PBL 7 stage 1 [0.999] [preliminary chat; handing out scenarios] S1: [8.693] it's a long one [12.008] oh oh [13.090] [laugh] S9_T1: [20.777] it is quite a long [one /length] S1: [24.492] does everyone want to just read it themselves rather than reading it out? : [27.744] [students read scenario] aDD: [30.859] sorry to interrupt S9_T1 that's for you S9_T1: [33.265] thank you aDD: [33.589] ok? S9_T1: [34.018] oh right that's fine S2: [284.403] i'm just going to draw : [284.903] [S2 draws pedigree of family on board] S1: [285.064] draw the pedigree [338.535] are there any, words and phrases anyone, doesn't understand wants to define? S3: [345.530] what does it mean hemizygosity ? S4: [351.838] i think it's when there's only like one copy S3: [355.210] hemizygosity? S4: [357.108] i think its cos it's only one there's only one copy or something S1: [377.901] are there any other ? S5: [379.650] C, GH [384.459] yeah S3: [386.746] is it not a techniques that's, com- S7: [387.987] yeah S4: [389.213] comparative geno S7: [390.138] genomic hybridisation S1: [415.605] also the i didn't know the non-polymorph TQ subtelomeric probe, i wasn't entirely sure (2) how they would, get a non polymorphic well if if it's not going to be non-polymorphic it's not going to, vary that much in the population S4: [434.835] yeah so it must be a, sequencing [?] or something S1: [437.636] mm S2: [447.540] [?] S1: [449.007] mm S2: [449.689] yeah S3: [452.203] but see for M because he's older, isn't it right that we put him there S1: [458.269] well we know he's there so we might as well draw him on S3: [460.704] yeah S1: [462.046] because we know he's healthy S3: [462.927] yeah S1: [463.802] so if it is something that's, carried in the family, knowing someone's ok it's probably, S2: [470.119] do you mean like, he should be on [directing to other side of board] S3: [472.359] yeah because he's older S1: [472.874] oh, oh ok S2: [475.057] [?] yeah? S9_T1: [475.059] technically yeah it should be [?] but it's ok just now , if you've not, (2) but you can't put [?] as long as you put their age in, that's the main thing which you've obviously done S3: [484.349] oh right S1: [502.988] is it ok? [503.935] [laughs] S7: [503.935] yeah S6: [504.336] yeah S7: [505.045] yeah S1: [507.735] ok so we want to move on to main issues? [522.772] [? mine] dysmorphic features S3: [530.757] dysmorphia in the face and, the head S5: [538.513] [?] S4: [550.003] and the developmental delay? S1: [570.245] i suppose confirming the possible abnormality in the karyotype is a real abnormality rather than something that's, happened during the culture, confirming if it's present or not. i don't know how to put that in a more succinct [583.701] [laughs] S2: [583.701] it's ok [584.391] [laugh] S4: [597.013] what about S's pregnancy S7: [599.080] uhum S6: [613.152] [?de-] de novo or er inherited disease : [629.626] [scribe is writing up points on board] S3: [632.958] have you got the, em paracentric inversion ? [651.460] techniques for cytogenetics such as karyotyping, eh chromosome painting S7: [655.692] painting S3: [669.662] and the use of subtelomeric sequence probes S1: [681.526] uhm CGH S6: [682.731] CGH S5: [683.168] CGH S6: [684.640] [?] [mumbles] S2: [691.166] it's like a test [talking about pen and board; rubs something out] S3: [701.569] did you get the [?], here? the CGH S2: [706.287] do you not want it as another, [?], or ? [ referring to grouping/place on w/b] S7: [709.219] yeah probably because of [?] S2: [711.052] yeah S3: [711.451] ok S1: [714.248] the telomeric screening, or just S7: [716.768] subtelomeric screening S6: [717.189] subtelomeric screening S1: [717.857] oh [738.484] is there any other main issues? S7: [740.606] i was wondering as to why the London Dysmorphology Database did not have this, deletion ? S2: [747.329] [?] [writes on board] S7: [748.194] syndrome. (4) dysmorphology database S1: [766.780] shall we start there maybe S3: [768.194] and there was something else the risk , of to S's pregnancy S6: [772.301] yeah S's- pregnancy S2: [772.567] can? S1: [773.748] can you just pop that with S's pregnancy? S6: [775.110] yeah S's pregnancy, yeah that's [?a key] feature S1: [778.826] i suppose tell her the time, [?] that the these investigations should all be at nine weeks S6: [784.844] nine weeks S4: [785.639] mm S1: [789.192] shall we is there any other main issues? shall we maybe start with the dysmorphology and the London, Dysmorphology Database? ehm (2) so what kind of what what is dys-, dysmorphology S3: [803.480] it's any abnormalities that you can, er see S6: [807.145] facial characteristics S7: [808.535] [?] S5: [809.767] physical, features S3: [813.016] anything that you believe is abnormal, i suppose S2: [817.191] abnormal S1: [817.471] yeah, get anything abnormal that kind of S2: [817.845] [laughs] S1: [819.478] [short laugh] S4: [824.754] so does that databases is it more about syndromes and things like that that are sort of like? S1: [829.976] i think the database just marries up, things that you can see that are odd, and if you see several things are odd together, what they might, indicate as and some syndrome that has been identified S7: [841.317] i think i remember in one of the lectures maybe we were told but if we we [? a photograph] of the patient into the databases the database might, you know it's likely, to work out syndromes that could be associated with the features S1: [855.845] i suppose it depends if there's, like certain features that aren't commonly seen and that'll be a kind of a, [861.964] [863.978] (3) got extra symptoms or there might missing [? syndromes] S4: [870.092] so do you think it might be, quite rare maybe what the, the wee boy had then? S1: [879.226] yeah S7: [879.369] yeah S2: [879.681] [laughs] S1: [880.700] so put rare question mark [?because we][very quiet/under breath] S7: [882.752] is it because it's rare or is it because it has, it does not have any distinct, features or S2: [890.480] it's kind of like a mixture of S7: [892.303] yeah S2: [892.488] the kind of features obviously that [?if it ] has no name it could be something that's, not so common [??] so S6: [893.501] rare S7: [898.894] exactly [??] so S2: [899.952] mm S1: [901.290] but i suppose some dysmorphic features are seen for lots of different, syndromes S3: [905.682] syndromes yeah S7: [905.682] syndromes S1: [906.713] so you're not going to pin it down to something S6: [908.862] but usually er head and facial abnormalities comes with intelligence abn- abnormities like head interpolation and er S3: [914.814] yeah S7: [914.814] yeah S4: [916.969] but i think that's the developmental, delay S3: [918.195] yeah S6: [918.643] [? features/teachers ??] S1: [925.328] especially from kind of chromosomal, caused like inversions and, translocations [? there's] quite a lot of those, have got intelligence S7: [935.024] yeah like the S told, the two Q [?twenty] seven presents mental retardation and [ micro [?]] S6: [941.124] yeah] S3: [941.361] yeah S1: [947.604] ok so, so we're just thinking the database is just a, kind of syndromes with possible dysmorphisms that've been found S2: [981.645] [?][laughs] S1: [982.626] so i think, we've had developmental delay what exactly is developmental delay, have you got a (2) what is define i know it's got a specific kind of, S7: [993.574] yeah yeah it's S4: [994.251] it's reaching goals not being able to do S6: [995.698] it's related to education and, [?], just S2: [998.349] basically, [? if] we get bloods in for dev delay it will usually just say uhm, like a slow speaker or slow learner S5: [998.580] the [?] or or S6: [1006.515] yeah S1: [1007.020] so is it more of a, mental thing rather than a it's not, like a S4: [1011.835] it's it's [?] it's both S1: [1012.609] a physical, [?] it's a phy- S2: [1012.785] it doesn't [?] S7: [1013.183] yeah S5: [1014.553] but but i think that yeah, there are many things involved, for example in some patients can be ah autism (2) and also their speech, isn't er S2: [1026.151] i think it's definitely something that's related, to like it's usually like a, for someone who has [?] dysmorphia or some sort of mental problems will have, developmental delays, it's not something you will have features for, you know it's not like a S3: [1038.725] it can be anything like walk slow, whatever [?] S2: [1042.354] yeah S1: [1042.877] so a bit like more, mental than, physical so not like slow growing, or S5: [1045.828] uhm S4: [1046.308] is it? [1048.056] is it not anything, just just like walking or eh- you know, or age of when you start walking is that not it, [?] as well S7: [1054.309] could be S2: [1057.195] not actually sure S4: [1057.533] no? S1: [1058.509] shall we just put both up S5: [1059.804] no [it's ?] you know like, it's S3: [1061.629] whether it's mental or physical S1: [1064.889] cos i suppose two can be, combined S3: [1066.580] yeah S2: [1078.044] [? inaudible- but about board writing?] S1: [1079.274] yeah S7: [1079.274] yeah S1: [1079.829] [laughter] S2: [1081.450] [?] S1: [1085.702] ok so we think, they think they've found the, two Q thirty seven problem so, to try and confirm that this is an abnormality, ehm S7: [1090.084] Q thirty seven : [1098.001] [scribe writing on board] S6: [1113.926] sequence of testing they start it from karyotyping S1: [1116.317] uhum S7: [1116.815] yeah S6: [1117.470] so karyotype was, abnormal S3: [1120.314] shorter chromosome two. (4) is the abnormality that they found was the person who [? converted]? (2) they just found it in, on chromosome two? on karyotyping, or did they find the paracentric inversion in chromosome painting? S7: [1141.931] see she wonders if it is a paracentric so she isn't really sure whether it's paracentric inversion S1: [1147.659] so she knows there's something in the short arm S7: [1147.659] S2: [1149.091] yeah S6: [1149.091] umm S3: [1150.034] so in karyotyping they just figured out the abnormal, er [?] was in the short arm S7: [1153.628] short arm S1: [1157.476] and then they've done the chromosome painting S6: [1159.009] FISH [?is] subtelomere S1: [1165.690] just it says the chromosome, pair what painting may or might reveal you agree to carry out the investigation that shows complete and exclusive coverage, of both chromosomes two. (3) so is that nothing missing then, and nothing no [?transo- ?] no mono[?zygous] S2: [1181.586] yeah nothing S7: [1190.362] there is a question as to what painting may or may not reveal S1: [1200.008] i don't know what, the resolution of painting is, (2) and whether, it also to it's S3: [1207.950] is it not for megabases [?megabyte] S2: [1211.726] but it it S1: [1213.734] megabases S3: [1214.657] megabases yeah, is it not for [?] S2: [1221.188] i don't really know S1: [1221.236] just put four or five mega bases : [1223.467] [laughter] S1: [1223.673] we [? won't go that ball park] S3: [1225.660] i just remember S38_T5 say ask this question in the lecture and someone told her, but i'm not sure S7: [1230.947] but will painting really help, to find out an inversion? because, painting is specific to chromosome numbers so S2: [1238.879] we've just had a lecture on that S7: [1240.169] yeah : [1240.169] [laughter] S1: [1240.235] yeah [?] S7: [1241.357] exactly yeah so if it's an inversion it must be written the chromosome right S4: [1245.160] so it will col- colour in the same S7: [1247.430] yeah if it [? be] painting S1: [1247.814] so [1249.429] i suppose you're what you're ruling out, it's involvement of another chromosome there, so you've not got something, it's definitely just something that's on chromosome two S7: [1253.444] yes [1254.953] and S3: [1256.972] but see in the lecture, she had these two chromosomes one was er the red one and at the end of it there was a gap, oh there was another chromosome it was coloured with [? sixteen] S7: [1266.043] there was a translocation S3: [1267.847] that was translocation right S7: [1268.272] yeah [1269.597] when you have translocation between different chromosomes then painting S3: [1272.822] can help S7: [1273.381] yeah, it can distinguish between the two chromosomes S1: [1275.705] so basically we're just ruling out that it's a translocation, by doing the painting S7: [1279.570] uhum S3: [1280.202] oh right S1: [1281.662] unless it's a very small, translocation, which the resolution of the painting might not pick up S3: [1288.596] yeah S7: [1288.596] yeah. but do you think painting could be the actual technique which we can, use for this case, like as in inversion if it is an inversion S1: [1298.220] well it seems like they've gone on to use other things S2: [1299.231] yeah, yeah S4: [1300.240] but would the, when they look at karyotyping do they not do that G band? so would they not identify whether it's an inversion then? S3: [1306.847] yeah exactly S2: [1307.252] they they would see it but um, i think [? from re] confirmation, i think, they they like usually for developmental delay er the swab it always goes to FISH and microarrays, they always do it just to double check, that the result is right from a S1: [1322.534] i suppose also karyotyping's not that high a resolution is there so you want to make sure that, it's not ehm S2: [1325.079] yeah the resolution's not, too high [1329.254] especially if it's a like small, small[??] S4: [1330.645] um S6: [1331.842] [? tumour i think] S7: [1333.099] so is this a micro [?] S1: [1341.976] so then after that they've kind of gone on to the subtelomeric, sequence S6: [1344.189] CGH S7: [1346.160] mm yeah that's another questions why would they go for the subtelomeric, ah sequencing S3: [1352.500] see i was thinking about the translocation and it was on the individual telomeres and that's how i was thinking, because it was subtelomeric so, they found something abnormal with telomeres, i don't know i'm not sure S9_T1: [1364.790] what do you know about, sub telomeric regions? S1: [1371.188] they're there [laugh+ group laugh] [1372.189] [laugh + group laugh] S9_T1: [1373.848] they're there yes S3: [1376.200] i remember a lecturer saying it's more useful, technique, but S1: [1381.143] is there, not quite a lot of, repeats, in that region S3: [1385.510] region [?] S4: [1385.963] no that's the telo- i think the telomeres the [?] S1: [1387.544] it's the telomeres themself S4: [1389.070] telomeres [? that being deleted] (2) so the subtelomeric, so they can em, i think there are unique to the - unique then [?] you can identify the chromosomes whereas if they put the telo- telomeric probes on, it will just em , S1: [1391.930] so S8: [1400.099] yeah S4: [1405.131] S1: [1405.445] like all S4: [1405.916] all of them S1: [1407.799] so the each telomeric probe's going to be specific to S3: [1410.904] yeah because each one has a unique subtelomeric region S7: [1416.933] isn't it each chromosome has a S3: [1418.188] each chromosome has a unique symptom S7: [1419.510] ok S1: [1420.567] and obviously at P and Q they are different, (2) for the same chromosome, and subtelomeric S3: [1426.379] for [?] S1: [1444.863] so is this a fairly constant region the subtelomeric, if it saying that [?essentially] part of [? them of the] population's the sequence is quite similar in everyone? (4) that they can use, is there a specific bit for these and to identify each chromosome is it going to be, the same in everyone ? S3: [1465.683] you mean that the [?] are [?] S1: [1468.426] yeah. (5) i suppose that's what we're kind of going on to the, (3) use then using second, is that second or S4: [1487.977] they used a, they went on and used another probe. but it's not, the er it's non non polymorphic S7: [1494.994] two Q subtelomeric S1: [1503.910] so why didn't they use that to start with? (2) is there no polymorphism? S4: [1517.557] but i suppose if you've got the, the ones the subtelomeric ones S2: [1522.103] it doesn't make sense to me S1: [1523.822] [laughs + some group laughter] S9_T1: [1524.849] it's quite complicated S7: [1525.734] i was quite wondering you see with, the pedigree i don't think, i mean S3: [1531.248] it's use- use- useless S7: [1533.180] yeah the pedigree is, not helping us because (2) i -we don't see any previous history S1: [1540.512] but the fact that there's no previous history there, is helping because it means there's quite more likely to be a de novo S7: [1542.619] yeah S6: [1543.999] yeah, could be de novo S7: [1544.941] could be [1547.451] de novo yes S3: [1547.922] so you have to test the parents if it wasn't in the parents then, it increases the chance of [?] that it's de novo [? present in the [?]] S7: [1556.451] yeah [1562.358] so i think it does not follow any inheritance pattern at all because, there's no previous cases so it must be de novo S3: [1568.709] [?] complicated S1: [1568.746] but, we don't know because it could be in S or J we haven't had those results yet, so that's S7: [1573.717] uhuh S6: [1574.205] balanced translocation to any of them, could cause you know S3: [1580.442] but i think the more complicated thing is that we don't know [? which] syndrome does it [??] S1: [1585.603] but we've found a there's a chromosomal, cause which is probably, don't necessarily need to put a name on it S2: [1592.640] probably even more so [??] S3: [1594.712] but we don't know what the effects it has rather than the dysmorphic features in the, [?] S7: [1600.228] yes S6: [1601.761] it's a [?] S1: [1602.647] i suppose we know that, much. (2) it's probably quite similar S3: [1606.833] and then is it like a progressive er progress, some sort of S1: [1610.184] don't know S3: [1611.254] yeah S7: [1612.288] but if two Q thirty seven does not have a [?] S2: [1615.844] cos like [?] like a lot of developmental delay [? symptoms] won't have names but it's just something that you can see once they've done like a karyotype or FISH or something like they'll say ok this [?], has nothing wrong with it that and they have like a multitude of things wrong with them but there's like no disease, because it's not well know or it could just be something, that's new , you know what i mean it's not like you know like having , Down Syndrome that's it you just have a [?], it's like, different things like cos like someone else could come with the exact same symptoms and have some other chromosome that's affected, or deleted or inverted so, you can't just specifically say or that chromosome , and that's what you're going to get. there's no such thing [?like] that. S7: [1629.785] mm [1644.200] mm S3: [1644.954] mm [1652.338] and we don't know which what age onset, is each [? child] S2: [1658.781] it's [shakes head] S3: [1660.226] so A's three years maybe [? if] she was four years then, she developed it S2: [1664.735] could be, by looking at something like, cos it's a like at the genetic level it could be obviously something like when you're born it's going to be something that, you'll see but you'll obviously need to if it's something like developmental delay it's something you won't see until the child starts to learn to speak or to walk or, something, but it's not something that you're going to develop at like ten years old, you know after being normal for such a long time  S6: [1678.003] um S1: [1683.130] she'd probably have some dysmorphic features S2: [1685.518] mhum , yeah maybe S1: [1686.732] cos obviously, it's quite pronounced that they've got to the stage of seeing a geneticist when he's four S2: [1689.235] yeah [1692.037] yeah S1: [1692.461] so you would think, a year difference that maybe they'd especially if they've noticed something in K they might S2: [1698.023] you would yeah by now S1: [1699.350] you'd've seen something. shall we go back to the pos- look at these possible results of the the non polymorphic testing on the parents? so what are possible S7: [1709.485] outcomes S1: [1710.214] outcomes. so if they're going to use this non-polymorphic two Q probe on it, on the family S2: [1719.206] [?] up here [indicating where she will write on board] S1: [1719.493] [?] [1724.206] is it non-polymorphic [reading from notes] S3: [1728.714] two Q subtelomeric S2: [1730.449]  : [1730.449] [scribe writing on board] S1: [1751.197] so the most straight forward outcome i suppose is you find, the same deletion in one of the parents S7: [1756.803] yeah but over here it's giving this showed apparent deletion of subtelomeric probe sequence at two Q three seven on one chromosome. so K has a deletion on one chromosome, so, probably if one of the parent has the same deletion shouldn't they be affected too S4: [1773.206] why not S2: [1773.661] [? yeah] that's what i was going to say [1775.239] [laugh] : [1775.239] [group laughs] S1: [1776.992] [?]the mosaicism S3: [1779.492] or there is S1: [1780.555] or a deletion (?) S3: [1782.734] yeah S6: [1783.076] balanced translocation would cause the [?] as well S4: [1783.207] do you think S3: [1788.685] well the balanced translocation you have, normal S4: [1792.120] then, they don't really have [??] translocation do they? S6: [1792.538] [?and] S1: [1792.848] polymorphisms S3: [1794.181] dysmorphism S6: [1794.720] yeah but in recombination, you might S7: [1797.729] no you mean a balanced translocation in one of the parents and the [?] of translocated chromosome [?] in the [?] yeah that's a possibility S6: [1800.187] could be a de novo [1801.300] in one of the parents , yes S4: [1808.052] but then then surely doing the subtelomeric probes will make, [? ] the deletion? : [1815.384] [scribe writing] S1: [1833.039] i suppose kind of our big question if there is, a deletion in one of the parents how can they not have the same symptoms S7: [1838.676] uhum S1: [1839.560] so we've got to give some explanation for it. (6) or do they not have this [1871.093] ok so the kind of the second, parental testing one, (2) which i'd to read a couple of times to make sense i think they're talking about the first set of probes, so the polymorphic probe they initially used, (2) and then the additional testing, with this non-polymorphic probe S2: [1892.313] [?] em, why would you not want FISH um, (2) maybe you could [? be] just do a microarray analysis which would be like base fluid deletion or something [??]? S4: [1906.609] is that S1: [1907.438] so that's why your going on to the CGH S4: [1907.805] [?test] CGH S3: [1910.179] [?] S1: [1911.032] [laughs] S2: [1912.799] [?] : [1913.653] [?S?] [exactly?] S1: [1914.967] there's a lot in it. so i suppose this one, it's the polymorphic region's deletion but the other non-polymorphic region is not deleted. so is that showing just (5) is it a polymorphism if it's causing, [? features?] [1939.352] (3) i don't know : [1939.352] [laughter] S7: [1940.716] i it's, i can't make sense out of it S9_T1: [1943.630] wha- what does it mean if, if you've got a polymorphism what deletion [? that?] makes that probe not bind? what does that, meanwhat does that mean [? does] it mean anything? S2: [1953.435] i don't actually know what it means at all [laughs] S6: [1953.435] [?] S1: [1955.221] it could just be a cha- a base change S9_T1: [1955.221] what what's a [? polymorphism] [1958.191] it's probably just a random , change you reckon it doesn't, matter so then you could use a probe that's, not got a polymorphic [? region] in it, (2) if you find [? ] sequencing what non-polymorphic probe does bind, what does that tell you, about the child? S7: [1976.984] that there is no [??] S6: [1977.327] [?] S9_T1: [1979.812] uh huh, (2) kind of. (4) the if the non-polymorphic if you've got a region [?of ] chromosome two, the [polyp?] the probe that's [?] polymorphic region doesn't bind properly, (2) but you take another probe that's, specific that's non-polymorphic and it binds S1: [1999.912] are they binding the same area? [2001.532] ok, that's what's confused me cos I'm thinking they're like, neighbouring areas S9_T1: [2002.841] yeah S7: [2005.505] [? have a ?] S1: [2007.141] so it's S9_T1: [2007.211] it's roughly the same area [?] S1: [2008.274] ok S3: [2008.884] so it's [?] a polymorphic and non-polymorphic probe binds to this area? [turned round to tutor] aDD: [2008.884] [? basically] S9_T1: [2013.560] yes S3: [2014.584] ahh S6: [2014.892] so either one should should bind? S3: [2017.502] one of them binds S9_T1: [2018.662] the the, probe that has polymorphism, in it doesn't bind, but the probe that's, not polymorphism, does bind S7: [2025.321] non S1: [2029.264] which means there isn't really a deletion there's just a polymorphism that's, stopping the probe from binding right S6: [2033.404] [?] S9_T1: [2033.404] yeah yeah [2037.793] just so you don't spend when you're investigating something that's, not quite, on track. (2) it is a quite a complicated one S3: [2046.245] so [?] the non-polymorphic probe, binds S9_T1: [2049.974] the non-polymorphic probe, binds yes S1: [2053.679] so therefore there is something there, there there isn't a deletion S6: [2056.690] deletion S1: [2057.665] so that kind of makes the third option makes much more sense, so that in this one the polymorphic probe, isn't binding and the non-polymorphic probe isn't binding earlier either which kind of suggests there is a deletion S2: [2072.216] ah right so the non-polymorphic binds [?] deletion S1: [2075.410] yeah S2: [2076.240] uhum S9_T1: [2076.905] why do you think they use the non, S1: [2078.769] sorry S9_T1: [2079.451] why do you think they use the polymorphic probe first? S1: [2082.989] i don't know S9_T1: [2084.078] what might be a reason why things are done in [?] S1: [2087.598] it's a better probe? S6: [2088.945] [?] S9_T1: [2089.207] might be a better probe S1: [2089.390] [?] better S4: [2090.606] what do you think? S6: [2091.202] [?] or not S9_T1: [2091.967] i suspect it's maybe a cheaper probe? i could be wrong, but i don't know why you'd use a [? non] polymorphic first unless it's a lot cheaper, or a better probe in general no one that they'd always use. but maybe it's just cheaper. S1: [2109.274] ok so the third outcome if you want to put the, neither of the probes is binding. which kind of indicates a polymorphism. (2) not indicates a polymorphism indicates a deletion, too many words [2124.167] [laugh] S3: [2124.455] so that's another option right? S1: [2126.149] that's the third, scenario that they give, that's what the significance S3: [2126.980] yes S2: [2132.630] one two three four five [referring to points on board] S1: [2135.103] well we've kind of the first two are [?] but the first one, why there might be a deletion in one parent [2158.332] so i suppose it's she asks what's the significance of each of the findings, and what further investigations will be required in each case. so what is the significance of each S2: [2170.942] well if there's a deletion [? the parents are not] affected then you're S1: [2174.687] [laughter] S2: [2174.687] [laughter] S7: [2174.687] [laughter] S1: [2177.118] but would they, would they then need to do something about em, the [? baby] pregnancy, if one parent has this deletion S2: [2185.158] yeah, one of the parents has a deletion then there's obviously a higher, risk to the pregnancy so S7: [2190.516] i think all these three scenarios are the possible outcomes the geneticist has, they used for [??] for the foetus [S2 nods] : [2202.230] [unknown?: would you do [?]] S2: [2208.064] well obviously they'd have to know about the parents  S1: [2214.198] well it depends which of our scenarios S2: [2216.754] um S1: [2217.329] with how the parents have, got it but who are not affected, so that's probably further investigation that you'd want to S2: [2224.040] [nods] S1: [2227.604] look at so something, (5) like screening the sample using CGH. (8) i suppose that's [?] the difficult one the middle one if there's, not a deletion, what is causing the dysmorphism? (5) so for the second scenario kind of, opens up, what do how find what's causing it so, you might want to do further investigations to see if it's something else there on a smaller scale S7: [2271.791] i don't , get [?using] it S1: [2274.792] the the second outcome if the polymorphic probe em shows, it doesn't bind, so it looks like there's a deletion, but the non-polymorphic probe does bind, so that means the problem isn't a deletion so therefore what's causing, the dysmorphism in K S7: [2291.051] yeah that's what i was telling you these scenarios, the geneticist has deduced from the pre-natal diagnosis? S1: [2296.955] these are for the parental testing. these are for the parents not for the, the prenatal S6: [2301.671] not for the prenatal S1: [2303.193] they've not done a prenatal yet. it's the parents they're testing, so it's what the testing of the parents will reveal about, their boy K S3: [2316.701] oh right it's parental not prenatal S7: [2319.049] yeah that's what S1: [2319.252] it says prenatal and then it says results for parental testing S7: [2322.166] yeah : [2322.886] [laughter] S1: [2323.756] it's confusing. (3) so does that make more sense? [looks around ] cool. (8) so then we'd, try and find something else that's causing it, (3) so we'd be looking at other, (2) screens, i suppose you'd probably want to check out the, polymorphic probe not binding , from that is a ( 3) polymorphism that's (3)causing that probe not to bind on to the [?] S4: [2364.088] i suppose if you kind of find it in one of the parents [? then/and] they're normal, so S1: [2369.927] uhum [2370.718] [laughter] [2371.510] so i suppose these second two scenarios are, for not finding it in the parents. so is it some sort of de novo in K S2: [2378.779] i think it's a de novo S1: [2378.823] S2: [2379.919] [laughs] S1: [2380.425] ok S2: [2381.383] that's it it's de novo aDD: [2381.933] [group laughs] S5: [2382.476] [?] S7: [2382.684] it's de novo S1: [2383.133] so i suppose if it is a de novo mutation in K somewhere, which it suggests by wha-the second or, the thir- the second or the third scenarios, you probably wouldn't need to do, prenatal testing S3: [2395.187] because they are S1: [2396.123] on the, baby pregnancy, you'd just do further testing to figure out what's going on in K. which probably would be less urgent than S3: [2397.093] pregnant S7: [2405.939] yeah S1: [2406.859] right so shall we look at something else cos we're getting bogged down S7: [2410.078] [laughs] S1: [2411.037] er, how about CGH cos [? there] that's what they have to go on, a sub, tele- a full sub, telomeric screening in K's sample, or a screen sample using CGH. (3) what do we know about either of them? S4: [2413.776] yeah S6: [2429.451] microarray aDD: [2430.738] [group laughs] S3: [2444.969] because of their comparative genomic hybridisation, what do they compare [telomeric ?] do they have like a central databases, they compare it to? em or? S1: [2455.984] i thought it was just like they got like a normal [hands for inverted commas], genome S2: [2460.484] [? i don't know ] S1: [2462.415] i thought, there's just a, standard normal, that they've cut up S3: [2468.139] that they compare it with S1: [2469.505] yeah S2: [2470.073] i think would make more sense, when they are analysing to have S1: [2473.620] cos it can't, otherwise it would just be, you wouldn't know if it was something was significant S7: [2477.993] yeah S3: [2478.059] yeah S1: [2479.181] cos you'd have to S3: [2480.354] yeah S1: [2482.001] so is CGH a type of microarray [S2 nods] S4: [2484.798] i think it's, what microarray's are based on S3: [2489.933] microarrays advanced rather, advanced than CGH S1: [2493.863] yeah. (4) so we've got like, hybridisation, so you've got your, probes S3: [2503.495] you need a lot of dyes in CGH as well S1: [2507.240] so we've got like all our, taking our, K's sample, and what would we be doing to it CGH S3: [2515.427] [?and ? have probes] of the normal, against the er K's DNA, i'm not sure but, what i guess is, that eh you'll have green, dye if it was the same then red dye if, there was a different, and or like you have yellow dye, and yellow dye [? indicates] that both them are, [?] this area i'm not sure S1: [2542.149] i've got i've got a pic- picture with lovely dots, in my head S3: [2544.288] yeah lovely dots S1: [2547.844] so we're basically comparing his sequence against another S3: [2550.623] [?his de novo ] yeah S1: [2551.709] and using different dyes to, (2) indicate whether it's the same or not, so trying to narrow down the regions that are different S3: [2559.858] yeah S7: [2568.629] can't we use a probe that's specific to two Q three seven deletion? S1: [2572.941] i think that might be what the full S6: [2573.887] that's the FISH S1: [2575.350] sub, is that what the full sub-telomeric screen is? S6: [2579.983] i think so because today er whater, today's lecture er er she was was talking, yeah they can use specific probes for specific deletion [S7 nodding] S7: [2585.182] they use specific probes S1: [2590.559] so would our full sub-telomeric screen be effectively using FISH, for the different regions ? S6: [2597.261] possible but i S7: [2598.050] possible S2: [2607.909] i'm not sure [gesturing to board] S1: [2609.282] no that's what we've [laughter] S7: [2610.358] [laughs] S1: [2610.677] [??] S3: [2611.834] and then what really confused me is, K's samples for hemizygosity was taken for inversion, to see whether there's an inversion in it or not, but why does he have hemizygots? that means that he has one copy of allele. i don't understand it S6: [2622.542] [? hemizygots to] S7: [2629.658] i think it says there's one normal copy of chromosome two, and another copy of chromosome two with an inversion so that becomes hemizygous because both are not the same, both are not different either that could mean [?hetrozygous] S3: [2642.756] so for the chromosome he has two alleles, right S7: [2645.896] yes S3: [2647.172] ok if he has, two alleles what does it say hermizygosity because in hemizygosity only one copy of the allele S7: [2654.173] yeah but they allowed you a limited inversion if there is an inversion there there will be still present, in the chromosome but [gesturing switch] S3: [2661.770] so there'll be one allele S7: [2662.559] the location would be different. so probably i'm guessing [you will find?] hemizygosity S4: [2668.226] where are we? S1: [2669.458] the very end, last paragraph. almost last paragraph S2: [2673.297] last one there [?][S5 also points] S5: [2677.153] i don't get it at all aDD: [2678.560] [laughter] S4: [2680.110] [?] S2: [2680.702] that should be a question, what is hemizygosity S5: [2683.199] yeah S1: [2683.330] ok let's just, pop that up there we can put that as one of our questions, what is hemizygosity and how do you use it, to look fo- to find the breakpoints of the translocation. oh inversion. S7: [2694.118] inversion [2694.837] [laughs] S9_T1: [2695.701] wh-what's homozygosity S7: [2698.987] both copies [? the same] S9_T1: [2701.355] are S7: [2701.878] [?] S3: [2702.338] identical allele S9_T1: [2703.476] are identical [?] S4: [2703.826] identical S9_T1: [2705.427] what's, hetrozygosity? S3: [2707.013] non identical S7: [2707.473] non identical S9_T1: [2708.603] uh huh, what do you think hemizygosity might be? S1: [2711.809] half identical S5: [2712.452] [? have] of one of [?] S9_T1: [2715.378] say that again S6: [2716.227] [? ?] S5: [2716.377] they have on-on one of them S9_T1: [2719.088] they only have one, did you say S5: [2720.345] yeah S9_T1: [2721.168] yes i think you're getting along the right lines : [2723.184] [ laughter] S9_T1: [2725.001] uhum.[?] S4: [2727.556] is it not like cos it's not like the X [? RY] gene would be hemizygous [? and ?], is that not what [? ] S9_T1: [2732.519] yep [2733.806] it is meant to [?] you're only meant to have one copy of [?] so S4: [2734.112] yeah you've only got one, uhuh [responding to 9_T1] [2736.195] yeah S5: [2736.573] ah S1: [2739.051] so is, that looking to see if there is bits that are missing due to the inversion, so that the breakpoints, there's a complete, and not, the little tiny bit missing, so that would be the bit that would be hemizygous if there was a bit that was missing. (3) could, also have it as a question : [2756.073] [laughter] S1: [2758.952] ok so em what have we, still got to we've looked, at confirmation of the abnormality, ahm we've talked about, whether it's de novo or inherited, (2) have we done paracentric inversion? what is a paracentric inversion? S6: [2774.858] [?] S3: [2775.735] that is involved er the inversion is stronger is it's involved, away from the centre[?], because para [?] centric is [? ] [board moved down; noisy; inaudible] S2: [2803.993] centric? S1: [2805.104] uhum S2: [2813.674] just put inversion [referring to board] S1: [2825.631] we've talked about the rest S3: [2830.165] no we didn't talk about telomeric sequence S6: [2831.479] no. S's pregnancy ? S1: [2834.505] no i meant the, in my head i said the rest of the cytogenetic techniques [smiles] S3: [2838.940] oh yeah S7: [2838.940] [?] S1: [2839.339] but ehm so yeah we've still got S's pregnancy risk, and i think , (2) yeah S4: [2848.473] so that that kind of, S's pregnancy does that depend on what we find in the parents? so it's kind of like, can't [?] S6: [2853.659] [?] S7: [2853.659] yeah S1: [2855.775] linked if it's de novo or if it's in one of the parents S3: [2859.250] yeah [2863.112] they didn't do , the parental tests , it was just assumptions right? S7: [2867.977] yes S1: [2868.550] uhum. (2) i suppose the difficulty is, if these, they've looked for these deletions, and they've not fo-for the second one, if the polymorphic probe, looks like it's a deletion the non polymorphic, doesn't so there could be a deletion somewhere else, that they haven't picked up on in the karyotyping , which they haven't looked for, when they've tested the parents so there could still be a risk , of something being passed on , but just not this S3: [2896.976] area S1: [2897.237] two Q thirty two because they think it's actually there S3: [2898.610] yeah [2900.505] like something next to it or S7: [2900.505] yeah S1: [2902.458] um S7: [2903.685] i think there is a deletion in, the polymorphic probe in both the second and the third option S1: [2909.904] um S7: [2910.573] it's only the non polymorphic sequence that, either binds or doesn't bind it's the only point probable [?] S1: [2918.404] but if it's that's if it's because the polymorphism which is stopping the probe binding, it might not be because there's a deletion it's just because the probe can't, bind . S7: [2927.845] uhm S3: [2928.189] yeah S1: [2928.807] so i suppose that, (2) complicates S3: [2937.609] so doesn't the risk em depend on the population risk? or is it lower? is it higher S2: [2947.042] what what would be population risk though like cos it's S3: [2947.242] cos there's no family history S1: [2950.472] i suppose if it's de novo S2: [2952.521] yeah S6: [2952.521] yeah S1: [2952.979] if it is a de novo in, two Q it would probably it would be whatever the, population risk is for that S3: [2959.551] uhm S1: [2966.697] i suppose you'd have to absolutely find, the, deletion in K and, find that that is not in the parents, to say that it was like a population risk otherwise it is, still going to be an increased risk S2: [2972.849] uhm [2976.265] yeah S3: [2981.920] yeah S1: [2982.744] you can't , pin down exactly what's S6: [2986.056] how long usually the testing for the the parental ah takes? like a week or two or less or S2: [2993.055] uhm, (2) the karyotyping would take only about probably ah, i think it's ten days cos it would probably go as an urgent so em (2) and FISH would only take about a week S6: [3004.225] yeah because, ah S1: [3005.381] so is that at the same time? or would you karyoptype after cos karyot- karyotype after then the FISH after ? S2: [3008.905] no [3011.011] it'd go at the same time like once you've done the harvest and you've dropped your slides for kayrotyping whatever's left over is sent straight to FISH S1: [3016.782] ah ok S6: [3016.782] FISH [?] because she's nine weeks pregnant and S3: [3019.056] yeah S2: [3020.023] it'd be an urgent they'd do it as quickly as they could S6: [3020.962] yeah S9_T1: [3024.576] yeah there's [?] standard how long, how long is all these tests [? whether it's], S6: [3028.811] yeah cos they ca- they can't take eh they can take the amniocentesis since she's eh S7: [3032.425] [??] S6: [3034.462] or else later , cos they can [? ] will do the clinical [?] S1: [3043.624] i suppose because it's a series of different outcomes, which S2: [3043.801] yeah [3047.830] pretty sure the reporting time for [?] is ten days, might be wrong though [??] ten S6: [3052.700] ten days ? umhum ok S2: [3053.153] yeah S4: [3055.657] it's probably on one of those slides from S S2: [3058.811] S yeah ? done that? [3059.622] [laughs] S3: [3059.641] [??] or not S1: [3067.354] ok is there anything else that we haven't really talked about? (2) i suppose we haven't really talked about what FISH is, we've kind of, talked about CGH S2: [3076.539] see today's lecture [3077.766] [laughs] S7: [3077.962] oh yeah S1: [3078.345] yeah aDD: [3078.856] [group laughter] S7: [3080.327] ok S6: [3082.824] do we need to speak about the management of the disease? or, no need for that S1: [3088.845] it's not really a disease as such it's a syndrome S4: [3089.885] we don't know what it is S7: [3091.330] it's a syndrome S4: [3091.736] i think S2: [3091.824] yeah like with dev delay so it should be therapy like S1: [3092.447] so it would be S6: [3094.813] yeah S1: [3095.722] it would depe- depend on what S2: [3097.447] how severe it is and what S1: [3097.974] yeah S5: [3099.814] so it should be multi scenario i think it's a [? type of], (2) things neurologic and biologic, physical S6: [3111.050] that's why i said management it's not treatment it's just management aDD: [3114.228] [laughter] S6: [3114.982] management S2: [3116.156] [??] [laughter] S5: [3117.021] yeah, certain [? i have] : [3117.607] [laughter] S1: [3121.002] ok. shall we, think about some questions then? there's quite a few that are quite big scary [3128.885] [laughter] [3133.123] not scary no. interesting. (2) so we've got what is hemizygosity S3: [3141.947] only what is hemizygosity because it's a bit general S1: [3144.702] so how about well yeah do you want to change it to what is hemiztogisty and, what, em how would it be used, to examine the possible breakpoints? or useful in S3: [3157.859] inversions S4: [3159.155] so that would be more, looking at that region, seeing what's, genes are involved or S2: [3165.765] [?] inversions? S1: [3168.582] for looking at K's, inversion S2: [3169.911] oh S1: [3172.929] cos otherwise it would be S6: [3173.993] yeah S9_T1: [3180.038] how would you look at it? how what type of screening S1: [3190.072] use a lot of markers, that'd be molecular, potentially S9_T1: [3197.076] that could maybe be part of the question S1: [3225.979] ok shall we next question go back to kind of the first things we talk about ? S6: [3229.983] clinical features of S1: [3231.634] yes so maybe the dysmorphia and the developmental delay what do we kind of like, think about that or have we got everything that we've still got, questions about S2: [3241.614] i want to take off the [referring to the board] S1: [3243.360] yeah S2: [3243.651] [? ? a three] [3245.080] [scribe clears board] [3245.462] they can't [??] S1: [3245.753] quite simple [3276.736] has anyone got any questions left about dysmorphic features or, that they that would need to be looked at cos [? there's not] S7: [3283.364] i was just wondering whether we are sure that K's got an inversion because she says just wonders possible [?], paracentric inversion so, we are really sure that he has an inversion? S3: [3290.686] [?]inversion S1: [3296.012] hmm. (2) i suppose if you looked at in detail you'd be able to determine if there was something there or not S7: [3300.798] yeah : [3300.798] [laughter S 7 & S1] S3: [3309.574] you could have looked at the em London Dysmorphology Database but it's useless as, it didn't find the syndrome [?] S9_T1: [3315.864] what what might you want to look at with regards dysmorphology which you didn't mention, that you have brackets S2: [3323.292] [?more/dysmorphic] features S9_T1: [3324.884] oh ok cos, what is dysmorphia of the face and neck S2: [3329.468] face [? and neck] S6: [3332.164] was it [?] S2: [3333.039] [?] S9_T1: [3335.068] [? what did you ] think about ? S6: [3357.837] at least we can have, development- developmental delay there [concurrent hm/affirmative sounds] S5: [3361.378] yeah that's a [?] S1: [3361.658] uhum S6: [3362.562] yeah S1: [3373.105] and i suppose because we it's been mentioned how would you use the London Dysmorphology Database to, find a likely syndrome just whoever's doing that question could go on and have, just have a wee look and maybe a screen shot or something S2: [3383.400] uhm S6: [3418.285] diagnosis of the case like how to confirm the S3: [3420.454] yeah S4: [3422.241] do you think that's all the techniques then all the different S5: [3422.950] testing S3: [3424.856] yeah S6: [3425.701] techniques S1: [3426.302] do we want to maybe separate up the techniques and say how they will be used in this case and then, so we can kind of clarify what each of them is a bit, more and S2: [3437.928] we have what is FISH that will be molecular S6: [3439.086] karyotyping S4: [3442.738] yeah S1: [3443.707] i think because we've done karyotyping before we're probably all quite clear on what that, so jot S2: [3448.133] i'd say more of the focus on this it's going to be more S1: [3450.396] FISH CGH and then subtelomeric, (3) we wanted three separate questions. (11) we should say and how would be used in this case. (23) S9_T1: [3495.208] what specifically in FISH what, what aspect of FISH do you want to look at cos you've mentioned quite a lot S6: [3503.870] subtelomeric? S9_T1: [3506.398] somebody'll do subtelomeric probably S3: [3508.775] chromosome painting S9_T1: [3509.513] yeah i think, (2) cos i think that was mentioned quite a lot it's not something you've done that much of [? yet] S7: [3515.194] yeah S4: [3515.654] [?] this morning S9_T1: [3516.639] oh did you? S6: [3516.979] just this morning S9_T1: [3517.662] oh right ok S7: [3519.824] and i think S3: [3521.436] is that the one that you told me is just for translocation S7: [3524.234] [nods then] [3526.274] no no S4: [3527.350] i think that's, the one you you were talking about your red and blues, green S3: [3529.260] yeah S7: [3529.260] yeah the green and the red S3: [3530.697] yeah that part S6: [3547.582] the em [looks at notes] S1: [3552.510] so the possible outcomes of S2: [3556.786] talk about [?] so, like S1: [3556.931] testing S3: [3559.406] yeah [3573.440] what do you mean by this question? S1: [3577.101] i suppose i'm thinking about it in terms of, pregnancy risk, how the different outcomes of testing affect the risk of, the risk to the pregnancy S3: [3586.292] and how could you search for it S1: [3589.711] i suppose we've got our three outcomes here, and how might each of those, change the risk to S's pregnancy, (2) think that might be quite a difficult one to do S2: [3602.434] yeah. (3) it's all hypothesis really S1: [3607.428] yeah S2: [3618.977] is that us S1: [3620.531] what do you think? is there anything else anyone? S6: [3625.637] [? inaudible] S3: [3629.065] should we say something about the [?] or is it, have to be with the outcomes i guess S4: [3634.294] i think that would come with outcomes eh? S1: [3636.390] shall we maybe split outcomes then? (2) cos we've only got six questions S6: [3642.224] yeah, i think we should S1: [3644.019] cos that's quite a, and then have, one person concentrate on the de novo S3: [3655.591] [? think there's a big] chance S1: [3657.837] [laughs] S4: [3658.870] what are you doing? S3: [3659.731] CGH S6: [3660.246] [laughs] [3660.871] ? be ready for the next [? ] S9_T1: [3662.359] see with your question two i think that could actually be should be split into two parts S1: [3666.762] so there's lots of little bits S9_T1: [3669.238] uhum S4: [3672.018] so it's developmental S9_T1: [3672.551] cos dysmorphology and developmental delay are two very different, subjects so i think that that could be two S1: [3678.114] so you could have dysmorphology in the dysmorphology database and then, developmental delay S9_T1: [3681.159] uhum S4: [3683.823] i'll have a look at developmental delay S7: [3687.467] so (does that mean) i'll get dysmorphia S5: [3689.609] dysmorphia S6: [3692.029] i'll do the FISH S5: [3695.183] dysmorphic for me S6: [3697.942] i'll do some FISHing aDD: [3698.916] [laughs] S2: [3716.554] me [scribe adding name to quesiton] S5: [3718.920] dysmorphic S7: [3721.942] i think i'll do the subtelomeric sequencing [laughter] S1: [3727.539] [?] S2: [3729.630] subtelomeric it that [?] S1: [3730.813] yeah S3: [3731.217] mm S1: [3734.887] i think it would be quite unfair to give S8 six seven because that's quite, difficult to understand [3740.807] [laughter] [3743.176] for not being here to have a discussion what we really mean S2: [3746.722] do you want me and you to do S1: [3746.766] so [3748.041] shall we do that and then, S8 give her, the first question S3: [3754.426] we don't need a pedigree right? S6: [3756.465] i think it's quite, it's straightforward S1: [3756.989] it's quite simple S2: [3756.989] no S3: [3757.974] yeah S7: [3760.910] i'm sorry but i was actually wondering as to why do the clinical geneticists you know, say that, conclude not really conclude guess, about this translocation as one of the options S2: [3778.045] because of the parents you mean? S1: [3778.111] cos that's S7: [3779.536] yeah S2: [3779.836] oh right ok S7: [3780.395] i was wondering as to why didn't he consider it an option S4: [3784.313] when they looked at the wee boy though they've done that chromosome painting and it says it shows complete and exclusive coverage of both chromosomes two so I don't know , [3792.175] cos like you remember the lecture this morning and you had the grey area where the [? ] didn't stain, and i think that might have indicated but i don't know what's [? it's] kind of size S3: [3800.383] yeah S1: [3804.005] so there's nothing missing so that's why we think it's an inversion S2: [3807.913] yeah cos obviously they must have tested the boy's blood and, think there's there's an inversion so [? i suppose eventually] they'd think there's a balanced translocation S1: [3817.485] unless it was really weird inversion S2: [3819.632] yeah S3: [3821.296] maybe deletion and inversion, or both of them are S4: [3827.260] and then, use the probe S2: [3829.516] [?] S3: [3829.516] so it's not [? one case] like there's not, a deletion or, there is a deletion or something else, like inversion [translocation ?] S4: [3833.333] right ok [aside?] S1: [3837.707] i suppose that comes down to why is there there's a deletion in the parents why don't they have a problem S3: [3842.391] yeah S1: [3842.978] but i supppose that's something we're going to have to look at in our, possible outcomes [laugh] right is everyone else clear on what S2: [3846.407] [laugh] S9_T1: [3850.590] see the subtelomeric bit make sure ah S7 you're doing that you look at eh, why we're interested in subtelomeric [??] S7: [3858.190] yeah [3860.033] yeah because it's really, building the curiosity why subtelomeric S3: [3863.582] telomeric S9_T1: [3864.546] yes i'm sure you'll there's loads of stuff like loads of literature and that so you should be able to do that S4: [3872.579] so there's a small deletion [? chain] in the [?] but it wouldn't necessarily pick something up [?] S9_T1: [3877.770] i suppose [it's worth] mentioning if it was a, three base pair deletion yeah[?], yeah you might want to S4: [3880.983] yeah [3883.242] there's a [? resolution] [?] S1: [3884.951] [?] [3895.691] is everyone happy? S7: [3896.682] yeah : [3897.173] [laughter] S1: [3898.385] it's snowing you must be happy S7: [3900.094] really S3: [3900.702] it's the last day for PBL right? [to S9_T1] S9_T1: [3902.414] yeah well there's Friday feedback but then i think there's, [?something] next week's schedule? S4: [3907.854] yeah S9_T1: [3908.159] [?] S7: [3908.335] yeah it says feedback for , students [?] feedback on PBL S4: [3913.182] that's with E PBL [3914.180] [?] S9_T1: [3914.180] on his PBL? S4: [3915.125] but i think that S6: [3915.748] it says ten i don't know why S7: [3916.790] yeah S9_T1: [3917.216] it must mean seven, i think, i don't know oh right so you are feeding back to each other on this PBL then I think S4: [3923.688] oh i thought maybe it was you that was feeding back to us S6: [3925.133] yeah S9_T1: [3926.513] well yeah obviously i think it's different, we need to check that, you may want to do as well as you can on this one, you're all going to be feeding back to each other, you may want to em, (2) it is quite a complex it is the most complex PBL obviously [? for the end of term] : [3930.561] [group laughter ] S3: [3942.361] [?] S9_T1: [3944.875] does somebody want to explain to S8 as well [?] what's she's doing, or does somebody want to, like discuss it with her. cos otherwise she'll be like , K's inversion what S6: [3945.158] [?] : [3955.222] [laughter] S1: [3958.689] will you see her, potentially [to s7] S3: [3958.689] [?] S7: [3962.106] no S1: [3962.434] no S7: [3963.314] we don't stay together S3: [3965.260] [?] S9_T1: [3965.260] maybe : [3965.523] [a lot of overlap; inaudible parts] S6: [3965.681] why not give her S7: [3966.510] [?] comes tomorrow S9_T1: [3967.100] just e-mail her like, scribe S6: [3972.948] so next meeting going to be over here ? i mean ah S5: [3975.247] or are we in the [?] S9_T1: [3976.756] oh we're in the PBL room actually that's right cos S24_T3's group are going to do a practice, with the computer cos they didn't have a go this term at all they weren't scheduled in the lecture theatre so they haven't had a chance to present so, [?] S6: [3989.935] yeah S9_T1: [3992.821] great yeah that's fine, that should definitely cover everything with those questions S6: [3994.419] all right? S1: [3999.124] we're all [?] S9_T1: [4003.670] scribe do you want to S1: [4005.116] just get rid of my woolly head S2: [4006.859] [laughs] S9_T1: [4007.203] well that's not bad at all for a complex scenario that's good. i'm going to look at the snow S1: [4013.511] it's calming down a little bit S9_T1: [4015.418] it has hasn't it ? oh actually yeah it's not bad S1: [4019.108] but it is forecast to keep on sn- snowing until about five S9_T1: [4021.073] is it? S4: [4023.479] you're kidding S1: [4024.267] no S3: [4024.883] snowing until when S1: [4026.604] about five but it's difficult to tell, on the radar but S3: [4027.502] oh S4: [4030.389] [laughs] [4031.276] you've been checking it have you ? S1: [4032.330] i've been checking it S6: [4032.827] [?] S1: [4034.337] well i just my mum needs to make a decision about whether she's coming down or not, so S6: [4038.028] [?] S1: [4039.139] but, she doesn't want to get stuck S3: [4041.827] she doesn't live in Glasgow right? S1: [4043.180] she lives near Aberdeen S3: [4044.679] oh right S1: [4045.276] so my dad's away so she's coming down to do Christmas shopping, cos my sister's working most of Christmas and to see us for a bit but S6: [4052.220] i hope they're not going to shut the airports later on [end of recording]. PBL 9 stage 1 S10: [0] S18_T2: [42.221] can someone close the door please? S8 would you get up it's open. S12: [61.350] so let's start by reading the scenario [63.821]  S16: [71.172] sorry [?] why did you pick that bit? S18_T2: [77.222] wo-worry about that later S17 just do the PBL just now NOTES: [80.476] [all reading scenario] S12: [251.374] ok? S10: [252.124] yeah S12: [253.823] so we have L? that's right, yeah? S10: [256.667] yeah S13: [256.667] yeah S12: [257.584] L yeah. L thirty six and J, L is eleven weeks pregnant and they worry about the risk , of the baby of having neural tube defect. so, let's start with the main issue. what do you think the main issues here? S14: [274.447] Spina Bifida. or maybe the ante-natal screening. (2) she's (5 ) S18_T2: [287.054] [?] board pen [?] S17 ( 21) S10: [319.178] population screening (4) S14: [326.760] is it population or ante-natal? S10: [328.570] prenatal [?] S14: [329.640] yeah. S8: [330.261] yeah prenatal S14: [331.581] umm. S13: [331.932] yeah. (5) S15: [335.988] risk of this in populations S8: [340.102] um? S15: [340.643] the risk the risk of this, Spina Bifida in population. S13: [346.185] don't think they're [?] S12: [347.805] [?] (4) S14: [355.161] maybe the age of the mother? S10: [357.265] yep S14: [360.120] and eh, the gestational age S13: [363.001] yes she's risk of Down Syndrome cos she's over thirty S14: [366.242] excuse me? S13: [367.691] the age as well the Down Syndrome S14: [370.072] yeah .and also the gestational age, which is suitable with S13: [374.484] yeah S10: [374.849] they can have a maternal age and something Spina Bifida and then [?] as well? S13: [378.783] i don't know S14: [379.664] i don't know either S10: [380.925] [?] S13: [381.912] i don't know why [?] S12: [384.874] here we have tests also S14: [385.697] the age S10: [387.508] ancestry oh yeah [?] S14: [390.108] there is also presence of the husband, maybe ? there is another issue presence of the husband S15: [395.301] presence of the S16: [396.972] what do you mean? S13: [397.873] i mean the husband's here, eh that may that might bring an issue, that they not agree to do the test or not or and the others. could be S12: [405.255] ah it would be about the Down Syndrome yeah ok. [408.684] could be about the Down. S16: [410.025] but they didn't mention any , they S12: [411.575] so put put a counselling as a main issue S8: [414.843] ok S14: [417.764] they mention she is accompanied by her husband S16: [419.994] yeah but they didn't ive any issues S14: [422.151] so is it important i mean S16: [424.152] but we don't know S10: [426.146] well, didn't they say i wonder whether both parents would have to give consent? anyway so, if she wants to- S8: [430.582] yeah [432.811] yeah it's whether they [?] S14: [433.634] if her view S10: [434.621] yeah S12: [435.192] so i should be inform the mother or the presence of the husband S14: [438.602] yes i mean S16: [439.274] but when they say they get together it means that they, probably agree to S15: [443.109] they both agree S16: [444.410] yeah S14: [445.084] yes in this situation i mean here i, that takes pay my attention that, is it necessary that the husband should be here not in this situation maybe like Cystic Fibrosis where it's up to the parents [?if] they want to do ah screening test or not, so if one of them refuse what about, er is it legal to do the screening test or? S10: [466.115] because [?like] she's going to go ahead you mean S14: [469.159] mm S12: [470.721] [??] to that so, any other issues ? S14: [473.727] family history because L er, L herself has Spina Bifida. S16: [475.823] she [?] S12: [480.595] also, eh leaflet? S8: [482.596] [?] S14: [483.277] oh yeah S12: [484.929] leaflet S8: [486.890] er information? S12: [487.970] yeah. information S14: [490.971] i mention they mention also that L, a long time to get pregnant. so, is there fertility the [?]? (3) S16: [493.167] what [?] [502.976] severity of the disease? S14: [504.370] does the fer- fertility S15: [506.525] severity of the disease? S12: [507.243] maybe that related to the disease S14: [507.365] means S8: [509.264] ok maybe factor. the severity of the disease? S14: [511.831] i don't know. that's why. (7) you understand the importance of this point here? (2) long time to get pregnant . S13: [525.472] is it the Spina Bifida that's causing the the difficulties getting pregnant or is it something else? S15: [530.675] diagnostic tests. (4) S16: [535.854] tha- that would go together with prenatal screening S8: [539.186] yeah which is prenatal screening is not diagnostic treatment S14: [542.060] yeah S16: [542.469] no the S15: [543.353] screening is the whole population. they don't [?]. (3) the diagnostic test is a prenatal. [?] S8: [549.731] yeah. (6) S14: [556.396] i think screening is not whole population sometimes whole population S15: [560.317] well sometimes possible for the [?] S14: [561.243] yeah. after screening er, er, the maybe er, can determine who is at risk and then we do the diagnosis to see CS [?abnormalities] or not S15: [573.899] so we can do screening for a particular family S14: [576.739] mhum S15: [577.239] yeah? S14: [577.589] something like that yeah. (5) S15: [583.287] what are the sensitivity of the test? S14: [585.167] accurate S15: [586.478] accuracy S14: [587.236] how accurate is the test. (16) and also the side effects of the tests, they mention and whether the tests, will affect the baby yes S8: [608.067] risk S16: [612.499] other mm, (3) other methods for like, babies? S14: [619.838] mm? S16: [620.377] IVF S10: [621.164] like kind of assisted reproduction ? S16: [623.395] er S8: [625.156] sorry? S14: [625.987] what is your point? S16: [626.374] because they obviously want a child. they really want a child. so, maybe we could offer them some other S8: [635.659] alternative S14: [637.650] what do you mean? S16: [640.464] cos it says here right S14: [642.625] yeah S16: [643.175] they want to get pregnant. so, if we find out about the disease could we offer them some S14: [648.667] she is already pregnant S16: [650.693] what? S14: [651.173] she is already pregnant S16: [653.166] yeah yeah but like, if if it doesn't term then, should we give them other options as well? S12: [653.959] i don't know is she? S14: [658.890] you mean if, he was if the baby was affected and they terminate the pregnancy S16: [662.935] yeah S14: [663.306] you are looking for after that? S8: [665.536] it would be in counselling right? S16: [667.096] yeah it should be in counselling S10: [669.277] so the justification is that on already affected individuals like, if you're going to test, let's say for Cystic Fibrosis and stuff then what kind of implications would that have for people affected if you're kind of making it public or, as if it were a bad thing. the same with, you know this like you she might like, people that don't have a Spina Bifida child might be, maybe more erm, you know, open to terminating pregnancy but if you tell her that hers is Spina Bifida then she S13: [697.495] because she already had it S10: [697.893] she she already has herself she won't, you know she is kind of it it says something kind of negative, you know, as if it's a bad thing whereas she wouldn't be might not as willing to terminate. so like if they kind of take into account already already affected peopleand the affect that a screening programme would have on their [? identity] S15: [710.928] i guess [715.743] i think you know even Spina Bifida can be treated by you know surgery or something S8: [720.961] what? S14: [721.041] according to the type S15: [723.362] Spina Bifida is uh when the neural tube doesn't close S14: [723.723] Spina S8: [727.462] ah S15: [728.673] it S8: [729.773] what happens to S15: [731.003] the during development of the embryo the neural tube they don't close S8: [734.825] oh it doesn't close S14: [736.387] sorry explain please. i think it's interruption in the [?neural] column. (3) if you think this is the spinal column. (3) [starts drawing to illustrate on board] so instead of being continued, there will be space in between one of the vertebrae. and we know that the spinal chord the spinal chord is here. so sometimes it is interrupted but the results advantage. but other times, some of the spinal chord goes out. so in that situation what you have said of the surgery, if there is no spinal chord out it is easy to make surgery, and remove, the cyst here usually the ski- the skin is here, and you see that there is a cyst comes from the back of the child, so there is no spinal chord. in that cyst it is easy they make, just surgery and remove it . there is a, a danger, dangerous for the lady or the child when there is, a space directly between there is no [? bone] can protect that part . but they can live. but in the case that during the spinal chord here, they couldn't cut . but they need to cut sometimes, and the end result would be the the child would be paralysed. S15: [746.053] [?]it would mean the half of the [?] [aside not all audible] S8: [812.276] mm S14: [813.883] so this is the Spina S18_T2: [814.836] ca- can i just interject here? we have a doctor here doctor W. she has Spina Bifida. part of the staff over you might have i don't know seen her she's over in genetics. [?] S14: [827.137] yeah. so those people who live normally means that the Spina Bifida, er the spinal chord didn't goes out. S18_T2: [834.578] she she's para- she's in a wheel chair, and S14: [838.319] oh yeah, so that means the spin- the spinal chord was out and they need to cut it because if they didn't cut it , so it would be a very high risk of meningitis and because the nerves will be exposed to the, er atmosphere and that's not good . S15: [853.814] so you're saying the, babies going to have a high risk of a lump? S14: [857.865] excuse me? S15: [858.755] it's going to have hump. a hump. S14: [859.756] yes. lump S15: [861.180] the back is going to S14: [862.575] there's a lump on the back yes in the lower back S15: [863.720] [?] S14: [865.419] um? S10: [866.100] does it grow? with age if you didn't if it wasn't treated? S13: [868.617] if you just left it ? with the [?] S10: [869.686] would it [?] worse S14: [871.447] no si- since since the child was eh born you will see that the cyst. the problem that he will yeah? he will be at very high risk of having meningitis. so it's not so the problem is not that it was grow on time no. that it's he will die because of meningitis if he didn't cut it ( 4) S10: [893.110] ok S12: [894.431] any more issue? S14: [896.804] Down syndrome i think. we haven't mention Down Syndrome. S12: [899.277] what's that bit? a- S16: [900.053] age right? S14: [901.035] uhum S15: [901.465] that's age related. i don't think so. it's related to Spina Bifida. S14: [902.205] but [905.661] mm and also they, talk about that the nurse, explain to the parents. so they might pay our attention to the informed choice. er we need, the parents need to er they have health personnel er has to explain to them everything, and then they can S13: [917.298] mm S8: [927.202] yeah information S14: [929.554] information? oh yeah S12: [931.514] should it be like in ethic part does the nurse, has a right to talk about like, medical information or explaining without the permission ? is it ethic? S8: [944.054] i found the nurse i think [?] S14: [945.794] what do you mean? who? S8: [947.257] maybe she has S12: [947.609] [?] talking about the patient S15: [949.970] but she says that you need to speak to one of the consultants also [954.318] ok. [?] she says that S16: [954.318] ok S14: [956.180] and she she show them leaflet, so that's means, her job is like this sometimes. (3) S12: [964.768] what about here i wondering if, the disease it will be mildly or severely ? S14: [970.749] yeah. yeah. she ask about the child has Spina Bifida S8: [975.060] variations disease S10: [976.060] yeah S8: [976.965] sorry? S12: [977.346] variation S10: [977.957] variations and severity ? S15: [980.521] severity of the disease . [?] S12: [981.410] ah ok. (5) S16: [987.439] that's it right? S14: [988.354] mm. [yes sound] (6) S16: [994.133] so that's it. S14: [995.149] have we mentioned the gestational age? (2) S13: [998.480] not gestational [?]. how S10: [999.178] like eleven weeks you mean? S14: [1000.795] eleven weeks yeah. yeah in the mornings S8: [1001.382] the eleven weeks uhum [1004.148] what about [? the mornings?] S14: [1004.780] because eh some of eh screens. like eh amniocentesis and e S16: [1007.588] just [?] S10: [1010.037] CBS would have to be first S14: [1010.769] CBS. in different gestational age . (2) so what's appropriate for them now S15: [1016.724] i had one more question, er since she is eleven weeks pregnant, er can we detect the Spina Bifida while it's scanning or MRI scan or something? S13: [1025.585] or does it have to be later on? S14: [1027.363] yeah? S13: [1028.198] i don't know, but i'd imagine you'd have to see it later on when it's more developed cos at eleven weeks you're not really going to see [?] S16: [1032.544] you S15: [1035.768] so S16: [1036.100] if it's just a lump can we just, ultra sound it? S15: [1039.061] [?] S10: [1040.271] [?] S16: [1041.462] cos you could see the, every baby you could see the S10: [1046.013] is there maybe a way you could test by a chemical marker from the mother's blood before, as as i said at eleven weeks you might see the development of the spine or you know you would see something but maybe not you mightn't pick it up whereas at least if you pick up markers like, alpha-fetoprotein. S16: [1055.988] well S14: [1059.445] i think alpha-fetoprotein yeah alpha-fetoprotein S10: [1061.957] were there four markers? S16: [1063.330] no but that's for CF S10: [1063.770] [?] and BHCG and S16: [1066.911] that's for CF S10: [1067.943] no they're for Down Syndrome. in the class that we just had that there was four bio-chemical markers for neural tube defects. [??] [overlaps; inaudible] S14: [1072.370] yeah S8: [1074.108] neural tube [??]. [?] for Down Syndrome. S14: [1076.116] no you could not use it for Down, [1078.781] for Down Syndrome and other disease but not S10: [1081.133] which would apply here too for if she's [? had] assisted reproduction. S8: [1083.229] she [??]. S14: [1083.292] yeah. S8: [1085.007] the mother [?] S12: [1085.068] the baby'll have [?] eleven weeks. or just at birth . S10: [1089.132] i'd say it was before birth though it would have to happen but, it would have to be [?] S13: [1092.879] if the baby had Spina Bifida would we be able to see it on ultra sound at eleven weeks or not S14: [1098.338] i don't know exactly when we can see the, but , i assume that it would be in the late pregnancy [?]. S8: [1104.943] yeah S16: [1105.606] but but then you get, you get the risk of like er, the baby won't term because of the test itself so. you get, one to two percent of the terminal risk, for prenatal as well. so you need to take that into account S8: [1122.625] risks S16: [1124.364] yeah pre natal risk yes S14: [1126.224] prenatal risk for what? S10: [1127.981] of testing S16: [1128.680] of testing S14: [1129.569] you mean accuracy S8: [1130.539] [?yeah] S14: [1131.980] you mean accuracy of the test or you mean that er S8: [1134.631] the risk to the pregnancy S10: [1135.856] like the ri- risk of miscarriage you mean from testing S14: [1137.476] oh yeah. [1138.807] i think we have mentioned that yeah? yeah. S8: [1141.642] yeah risks S14: [1142.657] yeah S15: [1144.038] so you're saying for the CVS test, the risk of pregnancy. ok. (3) S14: [1151.130] ok? S8: [1151.860] ok. can you go on? (6) S13: [1160.467] sorry S14: [1163.187] the ante-natal, screening S16: [1165.100] yeah S15: [1165.830] yeah [?] S10: [1166.763] yeah S13: [1167.601] prenatal? S14: [1170.634] today's eh one of the our classmate says what is the difference between ante-natal, and prenatal. but we have discussed that before yeah? NOTES: [1179.399] [group laughter] (5) S8: [1186.267] ok S14: [1187.156] ok S16: [1189.738] did we have Spina? right? S8: [1192.938] yeah, Spina Bifida Down Syndrome S14: [1197.534] so maybe we can say what's the diseases which we screen for ? S10: [1199.609] it's kind of what's next to the [?] S14: [1202.660] could we say that? S8: [1203.480] sorry ? S14: [1204.601] we can say what's em, what's what is the disease which we screen usually for ? S10: [1210.305] it's got it yeah S8: [1210.917] oh S14: [1211.397] i would have general NOTES: [1211.552] [multiple starts] S16: [1211.679] you [?] S12: [1212.759] you mean in general ? S14: [1213.775] yeah like i would have general S16: [1213.775] [?] the Spina and the [??] S14: [1216.255] Spina Bifida is one of them maybe S10: [1217.696] neural tube is the spine so S14: [1218.665] [?] also really? S10: [1219.775] [?] the [?] and that so Spina Bifida and Down Syndrome both. but Down Syndrome is that the same as S13: [1224.465] Down Syndrome is the neural trans- mut- transivity S16: [1224.592] it will [?] S14: [1227.069] -sivity [completing S13 turn] S10: [1228.268] what is that exactly ? i-i S13: [1230.435] is it not just there's a big er , S10: [1232.056] a lump? S13: [1234.378] when you look at it on the S12: [1235.979] ultra? S13: [1236.779] ultra scan it's like a big gap at the back of the baby's head isn't it S14: [1239.592] yeah. on the neck S10: [1241.414] like an opening? S8: [1242.805] no it's it's a fluid S13: [1243.378] no S16: [1244.177] it's a S13: [1244.268] a fluid it's a (2) S14: [1247.379] is it a hygromo or something yeah? S13: [1249.360] i don't know S14: [1250.150] one of the lecturers they he say hygromo? S18_T2: [1253.432] can i say to you, i mean i've got the core diseases and i think that's right , but this person's come because she's got Spina Bifida . S14: [1261.558] family history S18_T2: [1262.558] so i would think that Spina Bifida , and Downs are your main things the other things are incidental i don't want you to go off at a tangent here. Spina Spina Bifida Down's , and the other things are incid- are extras. i think there's quite a lot there? S14: [1263.473] yeah S8: [1266.181] main group [1269.673] ah S15: [1275.713] shouldn't she have screening [?] they are using the CVS samples for screening of twenty one . also we can use screening for thirteen and eighteen also S16: [1282.680] is, is Spina S15: [1285.648] because S16: [1286.369] Bifida inherited ? S13: [1288.450] er S15: [1288.450] no i'm just giving explanation [multiple laugh] S14: [1291.411] yeah he's right. yeah S15: [1292.023] sometimes it's S13: [1292.879] well apparently [?] normal, [laughter] i know that people that don't have Spina Bifida can can have [?] spine as well S14: [1297.514] we usually screen for [? ] in general yeah? S16: [1300.961] inherited disease S18_T2: [1301.953] you've got to read this, read your first sentence well i'll read it out er no read your third sentence. (4) S14: [1306.466] yeah [1313.071] third sentence S8: [1314.873] a long time to get pregnant S18_T2: [1315.751] uhuh. is there an added risk for a CVS ?or is ? S14: [1321.637] oh yeah S13: [1324.310] yeah S14: [1324.981] i understand your point . so S15: [1326.544] what S18_T2: [1326.671] she [?] and then she's eleven weeks already S15: [1329.349] do the Down Syndrome there [? already taken the] CVS samples. for the tests. S14: [1334.296] yeah. S18_T2: [1334.686] but her? has she had it done? S16: [1336.177] no S18_T2: [1336.717] this is this piece here? S16: [1338.718] she's only the eleven weeks. you can only do it after twelve . (3) S13: [1345.863] and if she's had difficulty getting pregnant she might not want to have a test that could increase the risk of miscarriage S14: [1349.806] yeah, but S16: [1351.052] she said we need to think about testing method on the mother, to see if it works S14: [1356.388] yeah. S10: [1358.189] so that's alternatives to CVS S13: [1359.769] alternatives yeah S10: [1361.108] alternatives to, actual, let's say, the basic test (6) S14: [1371.012] alternative you mean alternative, for amniocentesis and Chorionic Villus sample S10: [1374.886] yeah. yeah. S13: [1378.252] so does that mean [?] S8: [1378.992] so that would be a general blood test S14: [1379.892] yeah yeah [1382.064] and this is the main point S16: [1382.064] [?] the female blood NOTES: [1382.064] [multiple starts] S15: [1383.649] [?] S16: [1383.705]  S13: [1384.809] ha, you've highlighted it [referring to S14 handout] S14: [1386.572] yeah. i thought it's impossible to ah use it. you [?] ask for some information from it. yeah. and , er accuracy of the test i think is very important? accuracy, maybe (2) the false positive false negative and S12: [1403.736] they [?] this test for the screening test S14: [1406.957] um? S8: [1407.438] i'll just say diagnosis then. no the screening and diagnostic tests S12: [1411.617] but what would be the screening tests S16: [1414.412] you S14: [1414.902] it would be the same like that alternative test, yeah ? S13: [1418.503] hmm. S8: [1421.195] [?] the same as screening S14: [1422.774] yeah. S12: [1424.392] but which test you are talking about? S16: [1426.993] well it's probably going to be alternative because, well you should ask her , genetic- geneticist counsellor i think you have to give the option to the, family. you would you you would probably advise them, like the normal testing method, and also, the alternative. so- could you do that or should you just give alternative testing methods like S14: [1450.109] but this is S8: [1450.427] like chemical methods or bio chemical methods S16: [1452.529] it should probably be biochemical methods. it should be in S18_T2: [1456.089] what were your lectures today? what were you looking [?] S14: [1457.800] yeah. yeah. well we want to do screening so i didn't think that it's, it should we should name it as normal testing with her because it's not normal. we er, for screening the normal it would be ininvasive, and parento ascental and er amniocentesis S16: [1458.947] yeah [?] biochemical [?] S18_T2: [1474.578] nor- normal testing and screening, is here non invasive S14: [1477.040] yeah [1478.416] yeah S18_T2: [1479.332] did you say non invasive S14: [1480.432] yeah S18_T2: [1480.963] that's why i didn't realise. i thought you said it's invasive [?] S14: [1482.218] and they, and they are invasive i mean amniocentesis , uninvasive. yeah. so they S18_T2: [1485.838] yes uhuh. pre-tests tests are normally non invasive. S14: [1489.637] yeah. (4) S8: [1494.728] ok so is it the diagnostic tests or? S16: [1498.031] no, should be screening . S8: [1499.842] screening would where does it come under ? S10: [1501.974] i don't S14: [1502.824] screening doesn't (?) maybe alternative test . S10: [1505.306] yeah S14: [1505.916] because screening should be non-invasive. so , the main point the person who talk about this topic will talk about S8: [1511.846] we're trying to move on so that's why [?] S14: [1514.428] yeah S12: [1514.938] they also ask for diagnosis right? S14: [1517.121] diagnostic test yes. S12: [1518.622] yes. so, maybe there would be diagnosis ? S14: [1524.166] maybe in the diagnosis we need to do Chorionic Villus sample or, maybe , not sure. i mean if, er, the baby is high risk, and the screening test was positive, she might agree because she already be going to termination pregnancy so before that, she could do S8: [1541.450] diagnosis S14: [1542.450] yeah. maybe . (2)so screening can be diagnostic test also the accuracy and false positive false negative, it would ah, screening itself or another topic? S10: [1551.336] this could [?] [1554.099] they kind of go in with each of them i think ? S8: [1556.779] yeah S10: [1557.814] like risks and accuracy and everything [?]. (3) S14: [1564.037] but we already need to, have more topics to talk about S10: [1567.617] yeah. S14: [1569.098] so if we put one of them together ? S10: [1569.689] well S8: [1570.490] i think we should include conditions that cause the screening, like the age then the S10: [1576.197] yeah that would be and pop- would population [? genetics] go in with that as well? the [?] like, factors which are associated with risk and then population would be one then alternative would be another S14: [1578.347] yeah S8: [1585.130] ok S16: [1585.847] should we mention false positive S15: [1587.308] so what you want S10: [1588.007] oh yeah S8: [1589.236] so, factors S18_T2: [1590.864] i think that should be put up on the board because you've mentioned about accuracy and you've mentioned about false positive false negative that should be on the board now [last 4 words emphatic stress] S12: [1592.523] yeah S13: [1599.605] so make it S14: [1600.925] accuracy S15: [1603.566] and in the in the list also we can include the risks for the child affected S13: [1611.901] how do you get Spina Bifida ? they asked if her Irish ancestry has any [? influence] S15: [1615.999] whether S16: [1618.285] S10. well S15: [1618.733] i'm seeing the the [?] S13: [1620.137] [laughter k] NOTES: [1620.137] [laughter s13] S10: [1620.378] [?] incidence of Down Syndrome S16: [1622.953] anything on this? S10: [1624.525] i know there's a high incidence of Down Syndrome in Ireland, umm, but then, this was with maternal age like back, well fifty years ago everybody a lot of people were having children at seventeen eighteen you know it would have been normal to get married young you know with religion and everything . where- whereas, now people are getting married at an older age and whatever and so there's obviously going to be an increased, risk , i think it's more to do with kind of the with the times we're living in and stuff and , society , religion S8: [1658.594] well S16: [1658.594] well genet- S14: [1659.547] Irish [?] S16: [1660.505] genetic counselling like genetic counselling so if the baby's affected then what would you do? (12) S14: [1664.838] oh yeah S15: [1679.537] should i mention whether the tests will affect the baby or S14: [1679.791] yeah S8: [1682.090] yes that, that will come under the the risks S10: [1685.062] risks [1686.967] but that would be accuracy. maybe . S15: [1686.967] so that [??] S14: [1689.126] what's your point please? S15: [1690.316] no i'm saying that er, the test will affect the baby. how and whether the test will affect the baby so S14: [1693.791] oh right yes. S16: [1694.426] we we [1697.156] i thought S15: [1697.766] that come under accuracy or S16: [1699.995] i thought we got the risks screening because it's, less of a danger to the mother. why would then S15: [1705.823] ok but whatever diagnostic tests we are using like CVS or AS S16: [1709.612] no it wouldn't be CVS because S8: [1710.586] i think you could mention that under the tests. the screening tests S16: [1714.237] it's a screening test because ah S8: [1716.323] for each test you, can say that's also S14: [1718.991] so the person who talk about the screening he should mention er S15: [1722.928] the risks S14: [1723.725] er the non invasive one and the why not Chorionic Villus sample why not, amniocentesis, and the risks S8: [1726.618] [?] CVS [1731.621] yeah S10: [1733.599] would the leaflet go in with the genetic counselling like ? S14: [1736.075] looks like that S8: [1737.599] the information S10: [1739.000] yeah i think that like and somebody would have to , make a leaflet or [?] S16: [1740.520] but S14: [1740.847] maybe if you write leaflet down mean [?] genetic counselling S16: [1741.981] but if you do, but if you do Spina Bifida wouldn't you do the leaflet straight away as well or, but the leaflet sounded like the report from last week cos you need bits and pieces from S12: [1742.762] then we have design [?] S14: [1746.456] yeah maybe you will you mean S10: [1755.281] well no you put [?] S16: [1757.180] i mean you would normally have the general information S13: [1758.354] well not really because it's [1760.304] but it's for non scientists so it's going to have to be in simple form so you'll not need everyone's information cos that would be really scientific S8: [1761.378] you would give it S14: [1765.657] yeah S15: [1768.568] i was just wondering one thing that ah, Spina Bifida and ah Down Syndrome they are two completely different diseases so, do they need to be included in the same leaflet? because they are not hardly related to S13: [1774.289] uhum. so do you mean S16: [1778.480] no [1780.258] they're not going to be in the same leaflet S8: [1780.700] maybe S15: [1782.062] they have to be in two different leaflets because they are hardly related to each other S10: [1785.783] i think if there's an increased risk of one [? ] S14: [1786.992] why [?] S16: [1787.371] no you you would probably mention Down Syndrome at the end of the , of the Spina Bifida because of the age S15: [1794.483] [?]. yeah S8: [1794.737] perhaps S12: [1795.911] Spina means the disease we have here, maybe Down Syndrome would be like small part in the very end S10: [1797.792] yeah S14: [1797.792] mm [1802.047] but i think the person who are going S15: [1804.394] the leaflet is a common for all the populations so S8: [1806.617] yeah i think just give a common leaflet one for Down Syndrome and one for S15: [1810.618] you give a special leaflet for this family. and is that [?] is there a special leaflet for this family, because leaflet is actually for the world S8: [1810.698]  S16: [1816.978] but it's Spina , i the key point is S14: [1818.478] but she is she give S12: [1819.545] no [?] the leaflet . i think it would be yeah S15: [1821.641] yeah that would be it [? to S12] . S16: [1822.784] i think the key point is the screening test leaflet so i think it's got to do something , with the testing method, for both Spina Bifida and Down Syndrome S12: [1832.078] i think we should , general like symptoms , tests diagnosis S16: [1837.920] yeah. so it would be like so screening test i S15: [1838.359] so for for [?] S12: [1840.751] i i don't know if we should like do it two leaflets or S13: [1844.513] mm S12: [1845.105]  S14: [1845.212] i think the the type of the leaflet is already ready for us so we need to do it like that S8: [1845.273] well S18_T2: [1852.186] but but, is every parent who comes who's at risk of Spina Bifida, going to be at an age that's at risk for Down Syndrome? is every person who comes with a risk of Down's going to have a risk of Spina Bifida ? S15: [1857.085] [?] S14: [1861.467] no S8: [1862.927] [?] [very quite] S18_T2: [1863.958] so perhaps S14: [1864.769] so so [? we decide ], separate S18_T2: [1866.937] i don't i mean, there's actually nothing to say that you've got to do a leaflet although i think you should, but i just wondered is this, title a misleading title, to you S15: [1877.570] yeah S14: [1878.096] yeah [1880.558] so S16: [1880.558] but i thought it said here screening test for the two genes. so therefore S18_T2: [1886.750] they're you [? ] cycle [?] a leaflet telling you about screening tests, you're right about that S16: [1892.808] so it could just be, like this should i mean screening should be the same because you use chemicals just that S18_T2: [1900.291] but the the thing is , as one of you said before they are two totally separate conditions S14: [1905.504] yeah S18_T2: [1906.084] so, i mean this is working and it's a guide to the screening test for both of them S14: [1911.065] yeah S18_T2: [1911.495] that might be a bit complicated for you know for the man on the street to [?decide] S14: [1914.783] so do we do them separately? S13: [1915.155] although S18_T2: [1917.258] that wouldn't do any harm S14: [1918.940] ok S8: [1920.400] so is Spina Bifida also associated with the, age of the mother S14: [1924.889] i have mentioned about that , ah actually i know it's related to the folic acid deficiency, you know when pregnant lady they give us her they give ah them folic acid daily for the first three months. that's to prevent er Spina Bifida, but the maternal age i don't know anything about that. i don't know really S10: [1939.896] yeah S15: [1947.463] you mean with Spina S14: [1949.448] Spina Bifida S16: [1950.339] yeah S8: [1951.767] if it was related to the age maybe that's why they giving her [?] S14: [1955.640] mhum S16: [1956.345] no i think the age is not the problem because i think it is, because she just couldn't get pregnant that's why it's so late. i i don't think it's relevant i think Down Syndrome it's just another factor that you have to consider because she's quite old S14: [1966.570] so [1968.692] yeah [1970.562] we need two leaflet one for, Spina Bifida and one for Down Syndrome. and now we are six . we have six topics S12: [1979.165] do you know which abnormality causes Spina? S10: [1981.838] yeah is it mendelian ? or multi, genetic? or chromosomal S16: [1987.300] probably you should [?] S15: [1988.421] i know this is polygenic S10: [1989.321] polygenic S12: [1989.840] polygenic S14: [1993.235] i think here that there is no clear cut cause yes? S13: [1996.676] no there's not a clear cut S14: [1997.743] yeah S13: [1998.569] i don't know S10: [1999.239] causes of Spina S14: [1999.966] it's called neural tube defect. so during a pregnancy the neural tube, fail, to form em , the intact er nervous system S8: [2011.304] oh yeah S13: [2011.304] but is it due to the mother or the baby, like is it S14: [2015.665] in the [? perionesis] of the moth- of the baby but i don't know what is the cause exactly S10: [2020.265] isn't it to do with the environment in the womb itself like S14: [2023.836] there is a very large study i think in, is it in Nigeria ? i think Nigeria they say, they they talk about the effect of folic acid . i don't know really . S16: [2033.513] i , i think we need to look into the [?] micro S8: [2037.379] yes i think [?] S14: [2038.589] have we mentioned that? S8: [2040.040] all this i mean the effect diagram the age the family history, and disease, wouldn't it all come under, yeah S10: [2047.618] under factors that influence risk S14: [2050.476] oh S16: [2052.378] would, would that go under [?] S14: [2055.490] risk factors (2) S8: [2058.856] Spina Bifida no? S16: [2061.021] yeah wouldn't that be one of the S8: [2062.355] yeah i think then we just talk about diseases S10: [2065.156] i think yeah, because we don't know we all it's clear that nobody really knows much about Spina Bifida so that's a separate topic for someone em, to look into eh [?? overlap] S14: [2073.197] yeah. there is [? five]. S15: [2073.917] we know about Down Syndrome so S10: [2075.417] well we kind of know what Down Syndrome is S16: [2076.681] to we cover it (2) S14: [2080.123] oh you mean yeah. i understand your point. you mean just to mention that, she is also at risk of Down Syndrome and we need to do screening for Down Syndrome. but we don't need to talk about Down Syndrome again S13: [2088.411] yeah S8: [2091.583] yeah i think we already know it S14: [2092.944] yeah S18_T2: [2093.274] you don't need to go into the specifics of Down Syndrome but you do need to go into all the screening tests . S14: [2098.382] yeah S18_T2: [2098.862] you don't need to give details of the conditions but you do need to go into Spina Bifida S14: [2105.546] excuse me? S18_T2: [2106.467] you do need to give more information about Spina Bifida but i don't [?] to go into Downs S12: [2109.236] can you, like write the cause and clinical features of the Spina ? S14: [2109.348] yeah S13: [2111.522] yeah S14: [2116.222] mhum (3) S15: [2119.733] so we don't need to go into detail for Down Syndrome S13: [2120.800] [?] S10: [2122.706] that [?] S13: [2123.912] we've done it in lectures quite a lot em S10: [2125.870] we need to talk about the testing but you don't need to talk about clinical features and stuff that we know about anyway S14: [2126.003] yeah. because [?] [concurrent side ; inaudible ] S15: [2129.971] yeah but what do we include in the leaflet for Down Syndrome? S10: [2132.873] well you might you just S15: [2133.490] oh yeah S16: [2134.171] general like S13: [2134.570] screening methods isn't it like the S16: [2136.919] yeah screening methods S13: [2137.808] bi-bio- biochemical testing and S16: [2138.888] the four markers S15: [2140.476] just the testing not the, features and S16: [2144.324] no just screening tests S15: [2145.714] goes in the leaflet huh? S16: [2147.750] [?] today lecture remember the four markers i think you just [?] that S13: [2148.365] i think something describing S14: [2150.069] i think the one who will talk about or do the leaflet for Down Syndrome , he will not [?] he will try to, [?] subject and will not concentrate on the screening [?] method or, yeah ? S16: [2153.592] remember we get the c- the HCG] S10: [2157.276] [? CCG ][to S16] S16: [2159.371] that was the lecture today [??] S8: [2166.418] am i right to [?] S12: [2168.958] what is the side effect? S10: [2170.629] that's a [?] is it like S14: [2172.421] what i'm want to say that the one who will S18_T2: [2176.526] perhaps perhaps a leaflet about screening, for Spina Bifida and Down's, and another leaflet for Spina Bifida and the conditions , perhaps or just do the one. it's up to yourselves. i say you don't need to go into a lot of detail about Down's S14: [2193.801] yeah S15: [2193.801] what about prenatal screening ? S18_T2: [2196.043] you could perhaps do the one for the screening because the test is [?] but, you could perhaps give more information on Spina Bifida because that is your main topic S15: [2204.855] yeah S14: [2208.002] so only one? so only one instead of two S16: [2208.002] how S8: [2211.348] yeah spearate S16: [2215.558] what is the population risk for Spina Bifida S18_T2: [2218.474] i'm awful glad you used that word. i've been waiting for someone to use that word. speak up. (2) S16: [2226.771] ah population risk or S14: [2227.476] population S8: [2229.208] em , wouldn't that come under the factors that S12: [2233.269] or under Spina [?] S16: [2233.891] i think it would go under the causes S14: [2235.116] age [??] S12: [2237.496] it would be with the causes [?] S15: [2240.450] it is an inherited condition? S14: [2242.971] they want to S16: [2243.961] we don't know , we need to S13: [2245.911] actually yeah S10: [2246.356] cos like, didn't we were told that, Down Syndrome is not population risk associated because it's a general thing because it can happen [?] and if it's acknowledged that it can happened in any population so it's not like a high risk in the [?] so i suppose Spina Bifida obviously must have some sort of population risk [?] ancestry so it's, it would have to be eh distinct ? [S16 talking at same time] S13: [2249.157] i i [2254.228] it can happen in any S16: [2255.402] yeah it [2259.702] no the risk is constant. but but [? higher] S13: [2260.863] ahh S16: [2264.306] risk the risk is constant S12: [2267.722] but here the mum i think she had it right ? S14: [2267.976] i S13: [2270.322] yeah S14: [2270.322] yeah S8: [2271.052] yeah she has Spina Bifida S12: [2271.282] ok. so it could be the treated? S14: [2274.354] we don't know S10: [2274.711] yeah S14: [2276.236] because they just afraid there is nothing say that the foetus is affected , while because she had, history of Spina Bifida she will she ah she's worried about that her child might have Spina Bifida, we don't know S15: [2288.919] she has no idea? S14: [2290.014] yeah (3) S12: [2293.805] so [2295.705] Down's do we have Down Syndrome S14: [2297.571] so to the factor the one of the factors we talk about the age, the popu- population risk age, what else we have said ? S8: [2301.592] ah. yeah and the S16: [2308.584] would it be inherited? (2) S12: [2311.618] do you think that's to do with the [?] S13: [2311.618] i just think we need to know about Spina Bifida before S15: [2314.539] it's already in the scenario we can do this, more of it (6) S8: [2324.444] what else? i think that age and family history (5) S14: [2333.270] i think too it will also be the nutrition S16: [2335.040] what about S14: [2335.801] nutrition S8: [2336.622] ah right. S14: [2337.852] yeah this is not from S10: [2339.704] like what you said about folic acid and stuff? S14: [2341.784] yeah S10: [2342.064] nutrition in the mother do you mean like? S14: [2343.324] the mother yeah S16: [2344.395] [?] S15: [2345.483] the , the diagnosis S14: [2347.746] yes S13: [2350.246] so, it's the mother that causes the phenotype in the baby ? S16: [2353.892] wh- what about see when when when we did the lecture today in the morning we got the cut off, with the S14: [2361.519] yes S16: [2362.319] false positive false negative should we do that as well like this S14: [2365.087] this is under the accuracy i think S16: [2366.839] is that? oh yeah S14: [2367.940] yeah , and the - when it will be false positive false negative, the sensitivity and specificity S12: [2372.347] we have a question [?] the cut of what is it? S15: [2372.558] [?] S16: [2372.558] yeah NOTES: [2372.558] [multiple speakers; difficult to hear] S14: [2375.904] yes S12: [2376.224] on the diagram what's it called? S16: [2377.047] well you do you know like when you S8: [2379.206] the distribution? S10: [2380.095] yeah S12: [2380.813] [?], we've got S16: [2382.878] accuracy S15: [2383.277] the accuracy S12: [2383.848] you put it [?] ah ok S14: [2384.097] yes S8: [2385.578] here it's there S12: [2386.259] ok S14: [2386.820] and sensitivity and speci- specificity and lots of stuff S8: [2391.158] all right S14: [2392.682] yeah S15: [2394.714] so S16: [2394.714] do we have enough on the chart ? or are we missing majorly? S13: [2402.666] silence S18_T2: [2403.497] ah ha, (3) you've got, Spina Bifida so you're always going to go and classify that. you've got, em ( 2) the screening and diagnostic tests. (2) you've got accuracy for [?] the tests and you've got the risk for the em miscarriages you've talked about a leaflet . (3) S16 has tried how many times to bring in this difference in populations nobody's listening to him. but is there a difference? i know we've got ethnic background but, it's more than ethnic background you're looking for S13: [2423.067] uhuh for Spina Bifida S14: [2439.974] ethnic background [2445.595] uhum S8: [2446.579] the population risk? S18_T2: [2448.660] no not just population risk (4) S14: [2451.084] [?] S18_T2: [2456.235] help me boys , girls S10: [2457.990] like generally? S16: [2460.260] well it could be [?] S18_T2: [2461.641] you're Irish , right S10: [2462.626] yeah [laughing] S13: [2463.134] [laughter] S14: [2464.307] Irish S18_T2: [2464.644] i'm West of Scotland S15: [2465.166] so the prevalence ? S16: [2466.386] oh S18_T2: [2466.386] ok S13: [2467.096] and he's [?] S18_T2: [2467.288] he's S16: [2468.023] are they specific S14: [2469.284] father? S15: [2469.824] migrations? S18_T2: [2469.824] no no no S14: [2470.574] [?] effect S10: [2471.464] [?] affect? S8: [2471.464] [?] affect? S18_T2: [2472.857] no S16 said it S16: [2474.700] region specific so , they S15: [2477.928] the prevalence of the disease in the particular populations S18_T2: [2481.059] wonderful S15 NOTES: [2482.420] [laughter] S18_T2: [2483.831] wonderful, good. it's because it is different all over the world , and that is one of the things you are going to have to find out S8: [2490.860] ok so let's put it [?] heading one if that is ok? S18_T2: [2495.520] well that's up to you because you are going to be [?] S12: [2497.775] it could be with factors but i think maybe, two people should do factors because S10: [2500.982] yeah S8: [2501.553] yeah two people S15: [2502.052] is too much S10: [2503.052] one could do the, family history population and ethnicity and the other ones could do the biochemical diet age and stuff, could do a bit about [?] S14: [2503.052] yeah [2508.729] mm S8: [2509.936] ok so i put that under the S12: [2510.901] factors [?] S10: [2513.683] i'm [?] S13: [2516.347] see what else [?] [laughter S10: [2517.427] [?] S16: [2520.539] what? S10: [2521.139] [?] S18_T2: [2522.808] you can [?] potato [?] S10: [2523.904] yeah i thought that S18_T2: [2525.345] ?] potatoes as well S16: [2525.939] that was horrible as well S13: [2527.047] wasn't it? S15: [2528.466] but i think some of the (6) S16: [2536.310] but then they have [??] syndrome S10: [2538.856] [?] [laughter] (28) S12: [2568.528] with Spina can you mention classification? S8: [2573.753] classification S15: [2575.150] classification of Spina Bifida S14: [2577.118] severity of the disease S10: [2578.037] would severity [?be in] yeah. she said that S18_T2: [2580.761] well no no he was right , put that up S16: [2582.617] yeah S8: [2584.331] here S14: [2585.222] yeah S16: [2585.782] yeah (3) [2589.036] wasn't that S18_T2: [2589.407] but what is Spina Bifida is it's a neural tube defect isn't it? S14: [2592.972] yeah S18_T2: [2593.403] ut is it the only neural tube defect? S14: [2595.775] there is others as well S18_T2: [2596.855] well S8: [2597.966] ok so where do i put? the neural tube defects classification? S14: [2603.523] we will look, at the person who will, take that topic he will look what's the main issue and also classification, and he will told us S12: [2614.071] ok how genetic counselling, what do you think we should include in genetic counselling? S16: [2618.458] well you need to think about the worst possibility which is the baby has a disease like S12: [2624.396] so the options S16: [2626.491] [?maybe] S18_T2: [2627.729] it won't it won't S16: [2629.100] it all depends on the test and how accurate it is (4) S12: [2635.673] risks. risks. their options, variation S14: [2639.610] umm? S16: [2640.542] how would abortion be an option? S12: [2644.056] they will be S16: [2644.317] the baby's affected S8: [2646.475] do you mean the worst case? S14: [2648.947] according to you S16: [2649.797] abortion if if the baby like how severe is the disease if the baby S12: [2654.737] [?] S10: [2654.801] if the care S16: [2656.018] yeah what- what can you do ? S14: [2657.968] that might be with the genetic counselling? S8: [2659.564] genetic counselling? S16: [2660.655] yeah yeah probably S12: [2660.908] when they introducing counselling S16: [2662.881] sorry? S12: [2663.391] do you mean in the pregnancy? S16: [2664.811] yeah S8: [2667.195] so with genetic counselling risks S13: [2669.608] mhum S18_T2: [2670.546] i think you need to go on to questions now S10: [2672.536] yeah S14: [2672.910] ok S15: [2673.251] yeah (9) [2682.626] maybe, what's neural tube defects and , its types? (5) S8: [2691.999] should we focus on Spina ? S13: [2694.856] mhum S14: [2695.617] mhum yeah S8: [2696.253] so what's Spina (12) NOTES: [2698.494] [scribe writing] S12: [2709.793] shall we say neural tube defects ? Spina Bifida S14: [2712.325] say eh S8: [2713.637] no make it Spina ( ) S10: [2714.627] yeah (8) S14: [2723.199] and types S8: [2724.793] types? S14: [2725.613] types of classification (9) S12: [2735.278] anymore? S8: [2735.688] classifications S15: [2736.548] causes and symptoms (13) S8: [2751.167] and Down Syndrome S12: [2753.514] no i think S15: [2754.624] no no S8: [2754.657] [? second] S14: [2755.991] maybe screening tests now . instead of alternative tests S12: [2761.008] screening tests (5) S14: [2762.018] screening tests S12: [2767.523] and that will be for Spina right? S13: [2770.491] i think so S16: [2771.190] yeah S12: [2772.113] screening test would be for spina? S14: [2774.037] yeah S12: [2774.388] yeah S14: [2774.810] maybe for both S12: [2775.930] for both S14: [2776.697] for both yeah S12: [2777.161] [?] down [?is not] S8: [2779.872] should we make the screening tests [??] S16: [2782.933] but screening [?] invasive right? S15: [2785.800] what's that got to do with it? it was your question S16: [2789.158] screening non means non invasive right? because you need [? to use] bio-chemicals. S13: [2791.833] yeah S8: [2791.960] no you need S14: [2793.738] maybe the one who took the screening might er talk about, what's the criteria for screening test so should be un- er, non-invasive cheap er er affordable yeah something like that S8: [2800.419] yeah S16: [2805.246] [?fast] [2808.067] do you mean advanced like S14: [2809.977] the points which S16: [2811.324] [?] of screening test S14: [2812.897] there are like today, yes today's lecture she said that some of that's we couldn't use them as screening tests, just because they are not very comfortable, er even people don't accept them, invasive er, take a long time, yeah S16: [2815.389] or disadvantages S10: [2818.570] simple [?] S8: [2829.197] expensive S16: [2830.680] there was one where the the risk has to be smaller than the, the benefit S14: [2831.574] expensive yeah S18_T2: [2838.902] the benefits should outweigh the risks S14: [2840.834] mm S16: [2840.834] yeah S8: [2842.141] so S14: [2842.776] criteria S8: [2843.517] for a [?agree] screening programme S14: [2845.559] ok [?] she say yeah. (5) it would be the same with screening S16: [2856.116] it should be eh [? distribution] S8: [2857.441] [?] S13: [2857.441] yeah two together S12: [2858.648] under screening S14: [2859.473] the the one who will talk about screening test, who will talk about the criteria. (14 ) S15: [2880.944] the accuracy of the tests also come under S14: [2883.024] yeah [2883.773] comes under S15: [2883.773] accuracy and the risk of the test. (10) shouldn't it come in the same section? [referring to what scribe is writing on board] S12: [2897.734] no it would be next? we have [? specificity] right? S16: [2900.943] but then you, you need to mention false positive and false negative . S14: [2904.309] yes and there's a lot of calculations and, yeah special [?types] you know. (9) S15: [2905.643] [?] yeah S12: [2918.188] ok diagnostic tests (2) S10: [2921.530] are they like er further testing which you detect something and then go on to what, one of them (2) S12: [2924.792] yeah S14: [2928.920] tests only for, er Spina Bifida or also for Down Syndrome? S16: [2933.040] no both S12: [2933.681] both [2934.501] spinal and for Spina S16: [2935.141] i think S8: [2936.094] these are just diagnostic tests or common? S14: [2936.538] that's it. the diagnostic i think it's for Spina Bifida S16: [2941.047] but what about, after the results eh S13: [2943.524] say you've got a positive, screening test what you do afterwards S16: [2945.483] yeah S14: [2948.514] what do you mean like what ? S13: [2950.445] like if you're doing a screening test and you found that they had, they were positive for Spina Bifida S14: [2954.992] ok then we do diagnostic test ok? S13: [2956.642] and then the diagnostic yeah S14: [2958.122] what's the follow up? S13: [2959.562] you find out NOTES: [2960.503] [laughter] S8: [2966.006] so access. (3) [?] neural tube defects S10: [2972.006] i think she could split them up [??] but one could be [?] about and one would be about [?] other mutations . ( 38) S15: [2974.080] yeah S16: [3016.253] [? should we factor that thing? ] S18_T2: [3025.236] it shouldn't have factors that affect the screening test because, it's not the fact that the screening test isn't a factor by, it's factors that would S14: [3027.944] yeah S8: [3031.665] yeah [3034.078] criteria for screening. or risk [?] S10: [3035.248] affect it's S18_T2: [3035.248] uhuh yeah uhuh factors [? Which suggest] S14: [3039.473] factors for the disease S15: [3040.934] but there shouldn't be factors for causing Spina Bifida. S10: [3042.014] factors like risk? S8: [3045.319] yeah factors and fact [?] S14: [3045.319] yeah S10: [3045.959] that affect risk S18_T2: [3046.586] fact-factor S15: [3048.608] factors that cause Spina Bifida. (4) S14: [3054.607] we name the risk factors yes? S10: [3056.959] yeah S18_T2: [3056.959] they've got risk S14: [3058.419] risk factors for Spina Bifida S15: [3059.372] for [?] S18_T2: [3059.562] [?] you still need to do that S14: [3061.658] i mean the the age and all the high risk factors S15: [3063.881] yeah. (9) S16: [3074.079] diet? S10: [3076.238] yep S8: [3077.516] yeah. [?] mother's diet S12: [3078.651] [?] S14: [3080.937] folic acid. i'm not sure that we have to cover the spine test? S8: [3081.633] folic acid [3086.079] yeah S10: [3086.498] well we've got the [?] it's ok S14: [3087.539] it's something very common S18_T2: [3089.449] no- not in great detail, mention it S14: [3091.610] [[?] there is no much detail to cover S13: [3093.722] that's a [?] S15: [3095.595] the leaflet (24) S16: [3121.235] should there be two people, on the leaflet ? S8: [3125.109] might be yeah i S14: [3125.109] no S18_T2: [3127.231] work out if you've got enough questions for everybody and if there's not then, [?] two could do it [?] [mumbles] (2) S10: [3135.165] [?] counselling. (14) S18_T2: [3161.249] i think i think you've covered just about everything but , i think you actually still there's one more thing in, and that is i don't think you're em, perhaps there should be, one question on, ahm, (2) the incidence of Spina Bifida, in various populations over the world, that could be a separate one. i think that could possibly be a separate one (6) S16: [3191.560] so population risk right? S18_T2: [3193.661] now you've got a population risk [?] through ethnic background, but, it would be interesting to see, what, what am, the various countries in the world , if they've got one country's at higher risk than [? an other]. S16: [3206.865] but no one really [? compares?] S18_T2: [3208.356] no. no. S16: [3209.436] [?] what if it happens ? S14: [3210.718] people who has here are not interested to know the incidence of Spina Bifida in other parts of the world S16: [3215.910] make them [?] are not allowed NOTES: [3217.590] [group laughter] S13: [3221.290] cos it would help [?] send them back S18_T2: [3224.720] ok who's doing what then [?] S16: [3226.054] could you S10: [3226.845] if i was to do the [?] and then would er if, i did eight at the [?] S12: [3232.722] [?] S18_T2: [3235.325] well there'll be things that perhaps are that will be a little bit of cross over, and the person who chooses S10: [3236.149] be things that are S13: [3237.927] cross over [3244.404] no ah actually S10: [3244.722] cos i don't want to feel , like i'd like to do if i did eight i'd like to do a bit of five then , maybe for [?] or er S18_T2: [3250.522] well then you could the pass information on to the person, that that's doing, the rest of those factors right? you could give the the risk factor of the [? baby] send it back to the person who's doing five, who's doing the age and the diet all this sort of thing S10: [3266.275] yeah so maybe kind of separate yeah S18_T2: [3267.491] they they would be separate but you could help you could, give the information you find , say well this is an Irish-Scottish descent so, you could give the factor to that to the but you could do that factor [? you know that [?]] S16: [3280.389] [?] [overlap inaudible] S10: [3280.412] so my [?] would be , how receptive do you, and the general, er incidence maybe i could  S15: [3281.119] [?] [overlap inaudible] S13: [3285.095] you would you'd be eight S10 S18_T2: [3287.381] eight S10 wanted to do eight S8: [3288.837] eight S14: [3291.277] can i do three? [3293.547] accuracy and tests (5) S15: [3300.894] can i do the factors S13: [3303.075] five is that? S15: [3304.387] yeah, factors (3) S8: [3309.577] S15 and S12: [3310.275] that should be one or two factors ? S8: [3311.863] and somebody [?] S15: [3312.688] there's, there's hardly anything to mention i think [? factors] [?] S16: [3316.328] can i have one ? because maybe (4) S12: [3317.197] you can do the whole thing [3325.135] can i do two? screening tests (8) S13: [3336.104] i don't mind what i do this week [laughter] S10: [3339.816] what's [?] S8: [3340.746] leaflets S13: [3341.186] yeah S8: [3341.878] genetic counselling S12: [3343.731] S13 you S13: [3344.691] leaflets? S10: [3344.887] sorry? S13: [3346.132] it doesn't work for me NOTES: [3347.453] [laughter] S18_T2: [3348.951] is that what you want to do? S13: [3350.221] no . just [??] (2) S10: [3354.383] let's find out S8: [3355.135] and i'm [?] (4) S13: [3361.777] i've got diagnostic tests and genetic counselling (3) S8: [3368.635] ok S10: [3369.626] does that mean she [?] S8: [3370.266] genetic counselling and diagnostic tests (9) [3381.031] [? tests]. (6) S13: [3388.686] [?] S10: [3391.677] it's an interesting one to see actually i wouldn't mind any of them [?] S18_T2: [3395.013] are you doing that S8, are you doing the tests S8: [3396.596] i'm doing diagnostic tests S16: [3398.677] S10 [?] you are S10: [3400.878] [?my house?] S16: [3401.919] yeah. you ['re going ?] S18_T2: [3402.973] can i just say [?] [overlaps; inaudible] ah if anyone doesn't make it for Friday , we really need you to send in your reports i mean S17 you didn't i know you were ill last week [S17 yeah] but you really should have sent in a report to the rest of them because your your part is going to be covered . as it was, it was ok it actually was covered but if anyone can't make it they should still send the reports in. cos if the rest of students [?]. i just out of interest [?] maybe this [?] i don't know but i have Spina Bifida Occulta . i have Spina Bifida Occulta. and i'm fine . i'm not really, it has left me with a i have, problems with my back but um, we didn't know about it until i was twenty four , so ahm , i just thought i'd mention that fact . so. NOTES: [3403.250] [concurrents; inaudible] S17: [3413.261] yeah NOTES: [3439.619] [gr laughter] S13: [3453.566] [?] S14: [3453.566] there's a number of people who don't that they have Spina Bifida S12: [3455.979] [?] S18_T2: [3457.220] i didn't know about it until my daughter was a year old . cos i went to catch her but she ran [?] but i really couldn't move and i thought i'd slipped a disc or something hospital apparently i've one vertebrae that's shaped like a fish tail, and the one above [?] it's also a bit [?] , and er it was just caught in the middle , and that's it S10: [3475.481] that's really really [?] you know sort of slips out without looking S18_T2: [3480.461] and i am my hip replacement was done, the what someone said was my, uhm the erosion in the hip was the opposite side from everybody else's , and and that was probably due to the way i walked to compensate for my [?] eroded. S15: [3496.662] is it a slipped disc or a type of Spina Bifida ? S18_T2: [3499.883] Spina Bifida Occulta . Occulta that's what it's called sometimes that is [?] pain in the back but i don't know what that is it doesn't it's not [?]. S13: [3507.391] can i ask a question about my que- question? i'm doing the leaflet do you want us to do one on screening tests in general , and then a one on Spina Bifida , or one on Spina Bifida testing S18_T2: [3509.804] mhum S16: [3519.626] too much work S14: [3520.695] no S15: [3520.695] yeah S13: [3521.365] it's not S12: [3521.940] i think, you should like focus on screening for Spina, just [?] S13: [3527.053] right S14: [3528.417] Spina and, Down Syndrome . screening for S13: [3529.306] and Down Syndrome S15: [3530.462] you're in charge S18_T2: [3532.514] right? i think you should S14: [3532.854] yeah S13: [3533.314] the screening tests in general and then one, Spina Bifida S15: [3534.714] another S18_T2: [3536.644] if you don't then just do one S13: [3537.949] no it's fine . i like making leaflets it's quite S16: [3540.649] do do Spina Down Sy- S13: [3541.983] i like making things that just S12: [3542.211] [? especially are] the same as mine so S10: [3542.782] i get it S18_T2: [3545.640] [?] S16: [3547.030] cos the, the leaflet for the Spina Bifida i would, i would have the same sort of same information as well. S18_T2: [3553.521] ah but screening tests would have that. screening tests just it's just information about the screening tests, that you do S10: [3557.138] is that [?] [to S15] S15: [3558.710] screening [?] apparently [to S10 but concurrent with S18 & S16; not all audible ] S16: [3559.249] no no not about the screening test [?] the see S13 said she's going to do two , [?] the first one about screening tests the second one just about the the S10: [3563.169] they might not do it [?] S13: [3567.194] yeah in the [?] S10: [3567.350] [concurrent/aside with S15- not audible] S16: [3568.527] yeah, so that vaguely very similar to mine , which is [?] S13: [3571.449] [?] also for , the, the information about [?], leaflet for ah Spina Bifida and one leaflet for the screening tests [to S13] S18_T2: [3574.588] ah well usually [?] talk about if S13 putting together [?] [too many overlaps; inaudible] S14: [3582.176] well once i make the screening tests in general perhaps i would then [? have] to do , bio-chemical screening tests [to S14] S12: [3584.184] screening tests would be for Spina or Spina and Down ? S16: [3588.249] Spina and Down [to S12] S13: [3589.392] mhum S14: [3590.471] isn't saying that there is a lot here just to cover the screening, that would be S13: [3597.051] i'll find out i'll have [?] [to s14] S14: [3598.282] [laughs] S10: [3599.160] [?] [?first one in January] S13: [3601.965] yeah S10: [3602.606] going to give you the leaflets then? S12: [3604.732] [?] S18_T2: [3605.366] if you're all just going to get , [?] leaflets and copy [?] of the other one on the stand , so if you are going to an antennal clinic well you [?] stand, S13: [3614.828] yeah they've got a stand i'll look at the S18_T2: [3616.162] so you'd want one that says look at me first S13: [3618.067] pick me [S13 laughs] [3618.648] [S13 laughs] S10: [3619.400] that's it. S18_T2: [3619.400] you've got to adver- you've got to stand out to [?] S10: [3621.750] put it up [?like hers]. that's an idea. [S13 laughs] S13: [3622.385] [S13 laughs] S18_T2: [3625.446] you'll need to [?] you've got time [i'll see if you can book some [?]] i've been hearing that nobody is booking rooms for the midweek meetings S10: [3632.603] oh yeah they thought it was [?] S18_T2: [3634.583] that's happening. i'm sure my group would book a, room for a mid-week meeting wouldn't they ? or one of you go and do that now ? S8: [3640.939] the one in, in [?]? S16: [3643.020] sorry? S8: [3643.670] [?] group S10: [3644.559] S13 do you want to sign that? NOTES: [3644.940] end of PBL; now talking about permission form] S13: [3645.511] yeah S14: [3646.142] umm? S13: [3646.713] do i do i sign that? S10: [3648.003] sorry? PBL 10 stage 1 NOTES: [1.279] [O : sorry about that/ S24: no ..over][to observer about cable] [4.257] [students reading scenario] S24_T3: [143.204] can we have volunteers scribe and chair or will i just choose you? S19: [147.813] yeah obvious person S24_T3: [148.999] scribe thank you S19, who's going to chair this week S20: [155.668] i could chair S24_T3: [156.700] ok thanks S20 S20: [163.387] shall we wait for S22 or? S24_T3: [165.519] we'll give her another, eh minute or two but em, i don't know where she's gone S6: [172.124] i think she lost her [?] S19: [174.001] maybe she doesn't know, where we are S6: [177.591] she should know S24_T3: [178.609] she should i said on Friday S6: [179.777] i-i'll call her S24_T3: [181.077] ok [188.908] don't you have a a sheet that gives you the location of your PBLs S4: [193.029] yeah but she [?] S6: [193.915] this this time [?] S24_T3: [194.526] [?] i thought she might then go to, was it S9_t1? S2: [199.021] mm yeah that's S24_T3: [199.913] whereas L9_T1's in the, D's room i think ? S6: [203.723] that's her S24_T3: [204.229] so i think, possible, i think that's where we were meant to be isn't it D's office [210.122] i think, today. so you'd have thought she'd've gone along there [?] tutorial, wait till i just to check yeah first of January. oh there she is S4: [217.575] she's here S22: [218.175] i'm so sorry [220.581] i didn't know what [?] [?find] S24_T3: [222.731] there's your sheets, sorry could you pass that down S6: [227.755] got one of it ? S22: [229.817] ah no maybe it's just a [? ] S6: [232.319] ok [S2 passes h/o] S22: [234.068] thank you S6: [240.355] you will [?] S22: [241.947] no S24_T3: [246.741] you have a quick read at it S22 and then we'll get started just because weiI have a lab, fairly soon after the PBL so we can't really S22: [248.725] ok [253.577] yeah, that's our lab S24_T3: [254.340] [?] know we can't really run that late S22: [256.418] ok good S24_T3: [257.347] ok NOTES: [257.988] [reading scemario] S24_T3: [322.412] ok chair do you want to S20: [323.615] yeah sure [S19 gets up to go to board] [325.433] is there anything that people don't understand, any words or, i'm sure S19 will explain it [laughter] S23: [337.542] wh- what is CHT screening? anyone? S4: [341.232] i think that's the hypothyroid S23: [343.108] hypo- is it the congenital hypo thyroid yeah right S4: [344.530] congenital [345.951] i i assume that's what it is S20: [358.133] is that it? anything else? S19: [359.755] so? S20: [370.654] so i think the main, the main thing is obviously er, new born screening, ahm NOTES: [378.418] people nod [scribe writing on w/b] S22: [393.531] [inaudible aside] [whispers to S 6?] S23: [409.682] i think that we need to look into these three types of, er disorder S19: [414.731] yeah S23: [414.798] CF, ah Congenital Hypothyroidism and PKU S6: [420.319] PKU S20: [424.583] are they all the same [?] or newborn stage or prenatal screening, or is it just S2: [432.619] no it gets all just [?] S20: [433.170] [?] S23: [442.728] we have – i think there's, a confirmation for CF right? S6: [447.415] yeah S23: [447.592] to find, i think it's to find, what D told us the positive S6: [453.033] predictive value S23: [454.094] predictive S2: [454.412] yeah S23: [455.098] for this, this one. because like she has been [?] like for certain period of time that carrier status seems to be higher S6: [464.908] risk calculation S23: [465.841] yeah S19: [466.262] anymore?, type of tests ? S22: [470.062] er screening or S6: [470.823] the tests, yeah sorry S23: [471.168] for screening S19: [477.435] so S21: [481.445] calculate the sensitivity and specificity S6: [482.628] yeah S4: [484.500] and [? incidence] [485.502]  S21: [485.638] yeah and [?] also S24_T3: [490.894] remember do you just want the main the issues at this stage you're not going straight into, brainstorming S6: [495.651] yeah S19: [498.066] [??] specificity right? S20: [500.763] yeah S21: [501.732] [?] S4: [506.769] and [?] S6: [511.251] and S20: [513.438] see on, in the second paragraph it's like a, it talks about like the uptake of it and stuff, it's you know how it says a, a second blood spot sample, why why would you take a second blood surely you'd just get a S4: [527.236] is that not when the first one's high? you take a second one no? S6: [530.243] for the ARMS? S20: [530.626] no when when the first one's high the the the mutation analysis but when there's, five of them, had a raised IRT from the twenty nine with the mutations, [?] they've got a second bloodspot now S19: [538.224] yeah S6: [544.568] yeah S21: [544.839] so we needed to know the protocol S20: [547.160] yeah S6: [547.645] yeah S4: [547.846] yeah yes S19: [548.065] i don't know S23: [548.936] so we look at protocol of CF screening how they if they got high do they follow with a second one? S19: [550.904] CF S21: [555.737] yeah S4: [555.737] yeah S6: [556.830] do you know what [?] S2: [557.931] it could be also S6: [558.591] where where where is that here? [looking on handout; S23 indicates and explains] S23: [559.369] right here [560.000] they say, [?] after this twenty seven days of age when the newborn a sweat test S6: [565.506] a sweat test it's a sweat test it's not something it's a sweat test [566.506] it's a sweat test so it's not something S23: [566.871] a sweat test [567.876] it's a sweat test S6: [568.964] it's a sweat test S23: [569.402] a sweat test not a blood test S6: [571.246] i thought that [??] [572.808] S20: [574.551] so is this, second bloodspot? S23: [576.057] also [?]so so then, all all of the twenty nine, er second bloodspot [showing S6 on H/o] S20: [581.170] at twenty seven days S6: [581.877] oh second bloodspot ok S22: [582.423] oh bloodspots yeah S23: [583.847] so there's a bloodspot also a sweat test. so we've got to er look at the well is it i'm not sure do you think it's a protocol or is it because they are doing , er a it's like a S21: [594.839] diagnostic testing S23: [596.084] yeah [?] S19: [596.441] that's our [ ? ] yeah that's already diagnostic because, the screening test is just the the IRT S23: [603.385] so the second part is the S19: [603.826] right S6: [605.465] it's just diag- diagnostic S4: [606.962] i think the sweat test could be part of the diagnostic could it not? S23: [609.081] the sweat test is diagnostic S19: [610.393] oh right S6: [612.036] so they, they don't do it routinely unless you got high IRT S21: [612.197] no it's not diagnostic S19: [614.694] no S23: [616.650] yeah S21: [617.029] the diagnostic is to find ah mutations. DNA S19: [622.058] but it would be part of the diagnostic, eh process S23: [627.017] protocols for S19: [627.614] because you you wouldn't do that to every baby. only only if they already have, high IRT S23: [634.448] ok S6: [635.705] can you just put a note about that, just to find out ah S23: [637.185] yeah just S19: [637.746] what? S4: [640.198] [?] S6: [641.401] hum? S19: [641.983] where it says this? S6: [643.342] yeah the about the second sample if if that's a a S23: [647.060] the second blood- bloodspot S6: [648.098] is it part of a routine, or just in the case of the high level only S22: [650.832] oh [?] i [653.073] as i remember from the lectures because the, quality of the blood spots is not always like high quality that's, if they see something unusual and here it says like raised IRT levels they would do second bloodspot to just confirm that S6: [670.630] so just in case if there's a high IRT in the first sample, the first bloodspot? S22: [673.301] yeah maybe S2: [674.722] could be contamination as well you know they [?] S6: [676.308] yeah S22: [677.739] just to make sure, and maybe just also it's possible uhm, samples came a long way took a long time so, they would just do it second time S20: [679.210] well [689.456] but S6: [689.776] ok S20: [690.335] but what's the point of it if, like the twenty nine they've done it on you'd be confirmed as having a mutation so why would you bother with another, (2) and they only found one mutation but what would check for higher [?]IRT again? S22: [703.070] [?] two mutation but twenty nine with one mutation S6: [708.105] i think they would do the the S22: [709.786] [?] S6: [710.637] the mutation em ah testing S23: [712.660] ah S6: [713.160] after the second one i think S23: [714.409] i think S2: [714.940] yeah i think first [?] S23: [715.612] i think i think there's S21: [716.650] ah because when one mutation only S4: [718.400] but you only S21: [719.221] we need to two mutation or more S23: [721.148] i think because they may have one mutation, they either they can be a carrier or they have a mutation that's not detected so they are doing the sweat test and all this to confirm if, the child has S4: [727.500] yeah S6: [733.557] CF S19: [733.998] CF S22: [733.998] CF S23: [734.254] CF so that's why they said after the sweat test there's only two, only two confirm positive S4: [734.698] yeah S21: [738.518] yeah S6: [741.081] and those they go through the ARMS later on S23: [743.382] no they -they done the ARMS S6: [744.461] they done the ARMS already [acknowledging /repeating to show understanding to [ S21 yeah] S21: [745.117] yeah they done S19: [746.158] so that will be, part of the diagnosis right? S23: [748.994] yeah S19: [750.016] yeah S23: [750.420] that should be under diagnosis S4: [751.677] you may want to put something about the kit and the, mutations it does detect S23: [755.916] yeah S22: [762.874] did you put ARMS? S19: [764.460] no [765.399] no not yet S22: [765.399] you should put ARMS? S19: [768.177] that's part of [?] S23: [768.942] yeah [770.309] putting, we we will say that er for the thirteen mutation like because like it's seventy percent eighty percent we should yeah how much percentages there are, not in included (9)[watching Scribe add to board] [scribe writing, others reading also]so are we done for the first three paragraphs ? S6: [793.194] yeah i guess S23: [793.933] are we going to go to [? joke ] [group laughter] (5) NOTES: [796.028] [group laughter] S4: [797.712] yeah S23: [805.721] just just to check, PKU and CHT does it have correlation with CF? S19: [813.239] correlation? S22: [813.677] no i don't think so no S19: [814.639] no no S23: [815.297] because like S21: [815.829] no because you are talking about er S19: [817.603] different diseases S6: [818.041] different S21: [818.423] it's newborn screening yeah S23: [819.899] because like in the last one paragraph they said you think, parents accepted PKU, and CHT screening but, specifically declined CF, testing so i i'm just wondering S22: [826.623] ah b- S23: [830.205] testing so i i'm just wondering S2: [833.010] so i think its just a correlation it's just a case of they've been offered all these tests because they're common. so [?] so like there's like a link between them. S23: [840.226] uhum S2: [840.717] so S23: [847.231] ok S22: [853.954] so that's maybe ethical issue then uhm? not all parents accept DNA testing on their children S21: [860.994] yeah. so alternative screening to protocol, we need to talk about S19: [868.053] eh here they ask her to calculate sensitivity and specificity CF incidence blah blah S23: [875.330] yeah S20: [875.831] yeah S23: [876.812] but it's incidence well i think it would include carrier frequency, something like that. and she i think she asked that, is it possible to do a, population screening for carrier status. that's a bit a bit [?unsure ] S19: [896.936] population screening S20: [903.790] ok S4: [905.245] which [?] paragraph S23: [908.874] it's in the last paragraph [?] S2: [911.170] the forth one S23: [913.252] one two three four [?] five S4: [914.649] the forth one S6: [915.610] the fourth one is just asking about, she's wondering about it S23: [918.389] the frequency S20: [918.858] to calculate S23: [920.203] so i think S21: [921.373] the fifth one alternative screening protocol S6: [921.444] [?] S22: [925.474] [?] [quietly/under breath reading out?] S19: [941.000] umm S6: [941.402] so when when when when she uh uh um like J is wondering about about there're lots of people are not accepting, the ah possibility of DNA testing being carried out with their children do you think that we need to like a leaflet just to ah, to educate those ah, individuals? S22: [945.076] like it's S23: [958.179] to keep it S22: [961.193] what S6: [962.316] about er S22: [962.736] which part are you talking about S23: [964.173] CF for CF right S6: [965.266] for CF testing S23: [969.214] like maybe i think S6 S4: [970.569] i think maybe S6: [970.977] what's S4: [971.389] do you think we need to look at the reasons S20: [973.086] yeah what are [?] S4: [974.122] what are the reasons S6: [975.051] yeah, yeah ah like the reasons of why they don't want to do that S21: [977.741] no they don't like it S23: [980.037] just don't like it [laughter] S6: [980.146] just S19: [982.879] they just don't like it S23: [983.382] that's clear [986.879] that's the reason S24_T3: [986.879] so why why do they not like it? NOTES: [986.879] [group laughter] S22: [989.450] because they don't have much information about it S6: [991.549] yeah S4: [992.205] [?] S24_T3: [992.205] no what else ? what what else about CF? S22: [994.665] ah like [? ] [995.813] because then they are carriers? S6: [996.961] they they will be carriers S21: [998.994] or not S22: [998.994] but it doesn't change anything for them S24_T3: [1002.701] well S4: [1003.083] it might S6: [1003.805] for future children S21: [1004.341] [?] maternity S24_T3: [1006.343] well it might change a person's outlook no? S19: [1010.219] they might not want to know S20: [1011.855] yeah S6: [1013.115] put a question mark [2 laugh] S22: [1017.268] that's strange case . [laughs] why they don't want to know S23: [1021.579] maybe they're already married . they are [?] both carriers. what's the appeal? S20: [1028.076] no but S24_T3: [1028.864] well it's not so much in a child's case but if it was an adult and you were told you had, some sort of genetic disorder what, what might be the issues for you S20: [1030.682] yeah S6: [1038.171] they're just carriers S22: [1039.049] they're just carriers of it S6: [1040.085] they're carriers S23: [1040.577] ah S22: [1040.959] they want to S21: [1041.397] i don't like to know because maybe i will be worried S19: [1045.138] it's quite stressing S22: [1046.453] yeah S19: [1047.015] factor S23: [1047.864] you can for everyone everyone has some genetic erm how we say S19: [1048.914] yeah S22: [1054.188] susceptibility S23: [1055.339] susceptibility that mm you know, so you're everyone has not perfect [laughs & some others laugh] [1061.227] S6: [1062.598] is it psychological? [1064.688] maybe S19: [1066.890] it says here that she thinks, em with high IRT, there is a higher carrier frequency. so maybe S6: [1079.109] so she think that if there is any alternative screening protocol, then S19: [1081.733] yeah S21: [1083.172] we should say S23: [1084.908] yeah what alternative S6: [1088.192] also means non non molecular S23: [1089.493] [?] screening [1092.827] and one thing it just say about screening S4: [1094.362] well maybe not [? protocols] S22: [1094.886] maybe maybe it's about S6: [1095.629] it's not S4: [1096.603] [?] DNA S6: [1097.267] yes [to S4] S22: [1097.314] because S6: [1098.109] S22: [1098.189] no because this baby, is just new born baby and they think, baby should decide to have screening or not S6: [1106.392] baby cannot decide [laughter] S22: [1108.193] no, if if the baby is affected S6: [1111.525] so we need to look for other screening tests non non non molecular then? right? S22: [1116.718] non DNA tests? S6: [1117.659] yeah S4: [1118.471] i think previously they used to use maybe use the sweat tests S22: [1121.747] yeah S4: [1122.067] like that's one of the things that like years and years ago S19: [1126.280] but what's the difference if you if you diagnose with with molecular tests or with other, or with something else S22: [1129.033] yeah S6: [1133.980] they don't like that obviously [laughter] just think they're S19: [1137.779] yes they don't but why? S24_T3: [1139.183] well what's the thing one if you're doing a molecular test and it's genetic one person in the family has got it what could that possibly imply S2: [1147.046] others have it S23: [1147.538] you you got to check the whole family S19: [1148.648] but if you don't have the genetic test and one person has it anyway you know someone is, the carrier S6: [1154.765] it's better to know if you are a carrier or not S24_T3: [1156.922] but do you think everyone feels like that? S19: [1158.963] no S2: [1159.986] i think a bit like Huntingdon's disease [S9_T3 acknowledges with gesture ] like S6: [1162.615] but that's different Huntingdon's that's different S22: [1163.089] [?] NOTES: [1165.171] [inaudible S23] S24_T3: [1165.330] [?] there are obviously [?[?][group laughter] so S23: [1168.555] [?] S24_T3: [1170.252] does everyone look at it in the same way? S6: [1174.131] obviously obviously not S22: [1174.644] yeah S24_T3: [1176.513] does everyone want their DNA tested for example? S6: [1179.156] no no as far as this says over here no [group laughter] S24_T3: [1179.626] [their] DNA kept [? in a lab] S2: [1188.099] well it's certainly you know how like back in your country they do screening for is it [? term], or sickle cell and stuff you know some people might not want to know because it could change their chances of finding a partner and things so it could be like that for CF you know if someone, say you met someone and you found out you were a carrier S23: [1202.889] but but do you S22: [1204.166] i don't understand this logic [to S6] S23: [1205.890] ok we jump away from this S22: [1207.750] ok S23: [1208.251] you think you are car- even if you are carrier for maybe CF or anything, and you know, your partner and you are so completley in love that you would think you were ah you are carrier so ok sorry we go separate ways we think [?] S2: [1220.758] some cultures some cultures would do that though S22: [1220.813] why? no [1223.258] i mean it's like they could have normal babies if they even they are carriers S6: [1227.627] yeah S19: [1228.480] but there's a chance that you're not S22: [1229.314] it's [? PGD] S2: [1229.915] yeah there's a chance they could there's a chance there's not S23: [1232.819] yeah there's definitely a chance but will you think that S6: [1235.820] take the chances? S23: [1236.981] yeah S6: [1237.129] it's ok anyhow but we we need to know [group laughter], we need to know the other tests, write that down [S23 yeah] the other test S23: [1242.869] yeah just write [?] DNA tests S6: [1243.634] a non DNA test S21: [1245.547] also what about er talking about sorry S6: [1248.007] screening testing S21: [1249.109] er S23: [1249.319] yeah or S21: [1249.975] there are different types of ah mutations, for CF [1254.705] cos there are [?] S23: [1255.442] i think , that's we need the answer or check [?] S21: [1259.010] which one? S4: [1259.545] ARMS S23: [1259.775] for ARMS S4: [1260.116] [?] [1260.866] the ARMS [?] S23: [1262.181] yes because we haven't really branched out S21: [1263.922] ah ok S22: [1264.553] erm i think we should put the relation, or correlation between the CF and, uhm the IRT, levels S4: [1275.640] do you think she's S22: [1276.241] ah you already put that ? S4: [1277.382] [?] carriers [points to w/b] S19: [1280.005] relation between these? [pointing to points on w/b] S22: [1281.897] ah ok you already put that S6: [1283.324] ah already S23: [1285.074] then, maybe you'll just go to the next question if they, if the baby has been positively diagnosed with CF, what are the management or treatment for it this S19: [1299.849] for CF? S23: [1300.381] yeah for CF that's what that's the last question. next steps are in cases where babies have S4: [1305.517] so is that just S23: [1307.029] it's a follow up S4: [1307.430] how it's managed S23: [1308.414] how it's managed S22: [1309.415] yeah management of CF S21: [1310.932] yeah S6: [1312.132] to mutation? S23: [1313.963] yeah it will be like management treatment S21: [1316.751] also S23: [1318.118] we've two but two characterised mutation yeah S22: [1322.207] yes yeah this is one is, compound, heterozygous another one homozygous S23: [1329.602] actually i don't think that there's much difference S22: [1333.235] yeah. actually both are affected S4: [1337.638] it's it's a positive diagnosis S22: [1339.945] uhum [1343.170] do you S23: [1343.962] ok S22: [1344.363] ever [?] S4: [1344.733] main issues then? S23: [1344.742] do we S21: [1347.493] [? ] clinical features of CF [to S4] S23: [1350.062] [?] S4: [1350.077] i think that would maybe come under management stuff S21: [1352.468] ah ok S4: [1353.101] no? S20: [1353.562] what is it? S21: [1354.144] clinical features of CF S6: [1355.748] yeah that that would be part of that's the first one actually, right ? S19: [1359.170] which one? S23: [1359.421] er S6: [1360.186] PKU CH and CF you just put it? S24_T3: [1362.428] well you've got your issues you can really S6: [1364.013] yeah S23: [1365.052] we have [?][very quiet] S20: [1368.585] i don't think we really need to maybe we could mention like briefly like like if we were talking about the sweat test we could maybe talk about features a little bit but I don't think we need to S24_T3: [1376.485] yeah cos there's not much S19: [1378.016] and we already know we have done that before S22: [1380.038] i think that would go in management no? because the management is mainly trying to yeah S19: [1384.178] umm symptoms S20: [1385.341] yeah well but have it on like its own just talk about like management or how you'd manage S22: [1386.486] go from [?] the symptoms [1390.750] yeah S20: [1391.817] yeah S22: [1392.309] so that would be exactly same thing symptoms S24_T3: [1394.632] yeah S20: [1397.584] ok? S22: [1399.689] let's make [? a lab] S23: [1402.000] ok so we need to S6: [1405.200] the questions? S23: [1406.835] yes S22: [1407.342] [?] NOTES: [1407.452] [board being cleared] S24_T3: [1408.709] you can rub that stuff out probably that's there there's uhuh [directing to paper towel to clear w/b- next x turns about board/clearing board/old pbl notes on it ] [1411.947] there's [? tissues] there S6: [1415.570] ok [?] S19: [1417.976] looks like S20: [1419.248] ah it's our [? last] PBL S6: [1421.650] [??] [S23 & S6 aside conversation] S19: [1423.370] looks like like S20: [1425.351] [?] S19: [1426.190] [??]to S20 about board ] S2: [1427.229] it's PBL five S20: [1428.342] yeah [?] S23: [1431.876] next time you should sign it S20: [1433.133] yeah that that was the one i [?] S24_T3: [1435.210] you're obviously the only ones that used the board in here [laughter] S20: [1438.436] yeah S4: [1439.036] i thought we'd been here for translocation S2: [1439.968] yeah we were because i was drawing S6: [1442.365] yeah i thought, no we got we got two ah cytogenetic PBLs S4: [1447.836] [?] S2: [1449.038] we had the translocation one, with the empirical risk and everything S4: [1451.444] ah S6: [1452.255] yeah S4: [1452.318] did they have S23: [1452.920] er S2: [1453.840] and then what was the other one? S19: [1455.470] ok it's done [has finished clearing w/b] S20: [1456.094] ok S19: [1459.812] the map the S6: [1461.230] yeah S23: [1461.843] circle S6: [1462.600] circle S19: [1463.693] [?] [laughter] S20: [1464.825] yeah you were [?] (8) NOTES: [1466.096] [scribe drawing] S19: [1476.646] we have S21: [1477.909] Phenylketonuria S6: [1479.876] PKU S23: [1480.516] PKU CHT S22: [1484.079] yeah S6: [1485.195] CHT S23: [1486.226] [??] S21: [1487.729] CF S19: [1488.667] [?] S6: [1488.667] CF S21: [1490.109] CF S19: [1491.235] ok S6: [1497.029] PK S22: [1497.574] so we, for CF we have screening test and diagnostic tests right S21: [1501.847] yeah S19: [1502.117]  S4: [1508.673] so we're kind of mainly focussing on the CF then aren't we? S22: [1511.583] uhum S21: [1512.172] yeah S6: [1512.244] yeah S23: [1517.310] [? when] what alternative screening as well, under the same categories S6: [1524.187] um? S23: [1524.687] alternative screening S21: [1525.993] yeah the screening which we need to calculate S23: [1529.273] put another alternative so that [?] S22: [1531.350] oh like [1534.354] how we say? S19: [1535.505] mhm S23: [1536.438] alternative screening S19: [1538.000] sorry? S21: [1538.702] ah [multiple starts not audible] S22: [1538.702] i [multiple starts not audible] S23: [1540.197] alternatives S19: [1541.371] alternative ? S22: [1542.154] yeah S19: [1542.804] ah ok S21: [1543.546] no it's not included in screening. a new one S23: [1546.117] a new one S21: [1546.805] a new one S23: [1546.968]  S19: [1547.456] here? S21: [1547.898] yeah S6: [1547.953] it can be part of the screening actually S20: [1549.374] yeah S23: [1549.666] if it can be S19: [1550.537] yes because we have eh we have because S6: [1550.537] it'd be part of the [?] S21: [1552.217] we can do for screening to calculate incidence and eh S19: [1554.559] yeah S6: [1555.497] but but that's part of the screening you can do like alternative for, the screening S23: [1556.123] ah the screening S19: [1561.125] yeah S6: [1567.514] non DNA S19: [1570.155] non non DNA would be diagnosis, because the ARMS is a [? blood] a test is not a screening S22: [1572.742] [?] S23: [1574.874] [?] [1577.244] it's ok. then maybe you can go to diagnosis, the ARMS [1583.126] and sweat test S22: [1584.487] yeah diagnosis of the ARMS and S21: [1585.792] [?] mutation S22: [1588.012] ARMS and sweat test (3) S19: [1594.494] and here er non DNA test S23: [1596.756] non DNA S22: [1598.509] ah non DNA i think [1601.297] no you wouldn't put that S20: [1601.953] i don't [1603.032] i think S22: [1603.873] non DNA goes in screening S20: [1605.990] i think it it's, alternative screening protocols so it would be like if they said no you could offer something else screening wise so don't like it would be from the start it wouldn't just be the DNA thing it wouldn't, you wouldn't get screened for the IRT, test if they said no to the screening because they don't want a DNA test S22: [1610.964] another alternative S6: [1622.817] um S21: [1623.424] but we are not using DNA and screening test S23: [1626.115] no [?] S20: [1626.459] no but it's they want to find an alternative screening protocol so like, if it's just to look into whether, if they say no to, that because of the DNA test whether you could offer them something else S21: [1639.890] um S20: [1640.472] and like you could start from the same thing but it's just if you but it's just i think it's more if they just say no because we don't want a DNA test then [?] S6: [1643.570] so it should be just S19: [1650.413] ah so ok it's not an alternative to IRT but to this part right? [S20 nods] S20: [1656.517] well S23: [1656.517] i i think this should be S6: [1657.556] it should be there S23: [1658.667] it should be there S6: [1659.588] it should be part of the screening S22: [1660.180] because in diagnosis is not [?] is sweat test [ other inaudible people] S19: [1664.144] yes it is S22: [1665.107] so they don't have other information for diagnosis S19: [1667.019] because they they don't they S22: [1669.762] that's goes in screening they asking for S23: [1671.521] this is alternative screening S22: [1673.201] yeah [?] screening S6: [1673.310] because they declined that screening test for the CF S19: [1676.748] yeah yeah yeah S6: [1677.740] so that should be part of the screening it's not DNA S23: [1679.985] [?] yeah S22: [1680.405] yeah [1681.236] screening [looking to S6 for confirmation] S6: [1682.140] yeah S22: [1682.646] non DNA screening test S19: [1684.095] but you don't have DNA in the test S20: [1686.513] no no no if they say no S23: [1686.513] no no S6: [1687.744] it's not DNA it's it's not DNA S22: [1689.038] non DNA S19: [1690.680] yeah S6: [1691.188] non DNA S23: [1691.789] [laughs] S6: [1692.490] so yeah S19: [1693.584] anyway you don't have a [?] S6: [1695.273] [?] S22: [1695.780] yeah S23: [1696.331] it it's ok S6: [1697.551] but [?] so could be biochemical S22: [1698.613] that's not [1701.003] yeah it could be under the S21: [1702.494] but all screening is non DNA S6: [1705.930] that's why we're putting it there that's why we are putting it in screening [laughter] S22: [1706.321] yeah that's why we put it there S23: [1710.858] you are make sure everyone knows [laughter] S6: [1713.920] you're still not convinced huh? [laughter] S19: [1715.778] no [laughter] ok it's ==ok S20: [1718.758] it's like it's like the protocol is of, if they say, like they could get the IRT thing and then copy in the normal protocol you'd go on to DNA tests, but it's like if they don't want it because it'll go on to a DNA test, is there another sort of like like you know think of it like a flow chart, like instead of yeah S4: [1734.930] sort of like categories [?] [1738.429] yeah S19: [1738.702] i know [1739.960] that S20: [1740.893] yes but that's true that's [?] true S19: [1742.709] but, in the protocol, the moment you start doing, the only eh screening part is the IRT. the moment you start doing sweat test or ARMS that's already diagnosis S20: [1751.230] yeah S21: [1753.186] that's diagnosis S22: [1753.819] diagnosis S6: [1753.819] that's diagnosis S19: [1755.428] so that's why that's why i was saying S23: [1757.286] yeah [?you're right] S21: [1758.216] yeah [?] S23: [1759.700] i think under CF you can put calculations S22: [1763.577] ah like assessment of screening tests S23: [1765.822] assessment of the screening test S19: [1767.900] uhum S23: [1768.411] and also S6: [1769.271] sensitivity S22: [1770.712] yeah everything was just there S6: [1772.493] right. and specificity S22: [1778.642] [?] tests S23: [1780.844] but do do you think do you want include the, carrier frequency in there or, a separate one? S6: [1786.733] it should be i think S23: [1788.164] separate S19: [1788.675] i think these these one will have sensitivity specificity and the carrier frequency S23: [1792.330] yeah yeah [1794.048] the kind yeah ok S22: [1795.700] ah ok that could be go in, IRT because it's like carrier frequency related to IRT levels, that could go S20: [1805.230] sorry? S22: [1805.448] and then S6: [1807.580] thank you [laughter] S19: [1809.876] what else? carrier carrier frequency it was that? S23: [1813.578] yeah [1816.272] because like she's got S22: [1818.789] but that's not something related S19: [1820.352] [?] [false starts; inaudible ] yeah S6: [1820.734] incidence incidence S23: [1822.089] it's all incidence S21: [1829.432] management S19: [1830.852] uhuh S6: [1832.593] a part of [?] CF S22: [1841.813] ahm should we put like ethical issues and S23: [1845.841] yeah S21: [1846.291] yes S22: [1847.025] like they choice [1849.830] informed choice or what S19: [1851.298] in screening right? [writing to w/b] S23: [1851.572] [?] that's S19: [1853.048] in screening yeah S22: [1853.440] yeah S23: [1862.122] [? did you do some] about screening test? [1864.305] [?] S4: [1865.577] i think we need to say something about whole population screening S22: [1867.217] yeah i wanted to say like whole population screening S4: [1869.845] em we need to do something about whole population screening S6: [1872.570] for carrier frequency? S22: [1873.344] non carrier S4: [1873.344] carrier you know S22: [1875.202] uhum S6: [1875.743] yep S23: [1877.559] i think this one just she also wonders we just [?] [laughs] S22: [1880.724] yeah why, why we could we could say why it's not like, useful to do whole population screening S6: [1881.556] she just wondering yeah [1889.913] put a question mark because we're not sure. for carrier risk it's helpful or not S23: [1892.133] if it's S22: [1895.140] yeah S4: [1896.288] so it's kind of practicalities i suppose S22: [1898.310] uhuh. we could discuss that S21: [1904.193] i think we could [?] S22: [1904.909] i think S19: [1906.094] yeah S23: [1906.094] [?] that CF is more prevalent in which population NOTES: [1906.094] [ concurrent S6 & S23 ]not all audible S22: [1906.860] we can check S19: [1908.674] [?] S21: [1915.392] second one S19: [1915.562] oh yes second one is about S23: [1917.749] oh S22: [1919.608] uhm, trouble shooting in screening or [1925.570] like maybe we could talk about S6: [1925.570] [?] D discussed this a lot. is it useful to know the, uh, the carrier risk S19: [1926.773] eh that that would be like a protocol S22: [1927.390]  S21: [1929.397] yeah S19: [1929.828] because if you yeah that could mean S22: [1936.726] i think someone should make, like a flow chart. high scores first ehm S21: [1941.482] yeah [1943.835] like in the lecture S22: [1945.366] yeah S21: [1946.097] uhuh S23: [1946.097] any other thing? S6: [1946.977] [?][S23 still concurrent with S6] S22: [1949.848] [?] second bloodspot taking what both factors affecting it S23: [1954.312] [?] S19: [1955.842] something else? S23: [1956.344] [?]] S22: [1957.273] no i think that's about it S6: [1957.925] yeah S23: [1958.421] you you will miss [?]] S6: [1960.330] uhuh S24_T3: [1961.898] you've got the population what do you want to know in the population? is all this going to be relevant to CF? S23: [1961.990] maybe that's the usual one you can do a carrier status [?] you can check for CF [to S6] S4: [1968.844] the mutations in the population ? [S23 still concurrent not audible] S21: [1971.294] yeah mutations S22: [1972.088] yeah we should we should discuss S4: [1972.759] you won't [?] mutations and that in a specific population S21: [1978.171] the S19: [1978.390] where S4: [1979.123] just put it under population S19: [1980.303] diagnosis? S4: [1981.470] population S21: [1981.877] [?] population S19: [1985.934] mutations ? S22: [1986.991] yeah. you think we could ehm, screen whole population for the mutation that, usually occurs in that population ? [S6 & S23 finish concurrent] S6: [1995.149] as a carrier? S24_T3: [1995.649] what with that what what are you actually going trying to find out about, if you wanted to screen what what would you screen for S6: [2001.504] is it useful? S24_T3: [2002.543] uhuh S23: [2002.983] i think they're referring [? neural] check S24_T3: [2003.004] other [?] mutations of the that i mean that's what you're looking for isn't it? S20: [2008.427] yeah S24_T3: [2009.205] in a population S6: [2011.395] if you want to do the [?] S22: [2012.265] if someone's doesn't accept like, eh DNA test on their babies i don't think old people would accept, whole population screening S24_T3: [2021.496] no but is it i mean what what's the issue about whole population it it isn't the ethical thing what what else is it you're actually trying to say about, looking at the population S20: [2022.426] what S6: [2023.136] no S4: [2030.210] but it may not be practical to do. [?] expensive S24_T3: [2031.303] uhuh S23: [2034.532] expenses is while you are doing the carrier status you you ? can't pick up S22: [2037.371] and also S23: [2037.590] you you ? can't pick up S6: [2038.540] is that going to lower the population ah for carrier risk S23: [2039.102] yeah S22: [2040.159] or good [2041.848] point because S6: [2042.700] which i don't think so S19: [2043.440] yeah yeah S6: [2044.184] cos D has spoke about that before S22: [2046.215] because you don't know the carrier will marry the carriers or not carriers, so many questions S19: [2047.191] yeah S23: [2052.327] but there's one thing and one thing you can't pick up the carriers S24_T3: [2055.988] the same sample you're looking at CF just say in Scotland, is there any would some mutations be relevant in Scotland but, do you know i mean you'd be looking obviously at the practicalities of, S23: [2056.208] that's more tests S20: [2068.685] yeah uhuh S24_T3: [2068.752] the different mutations that [?] in that that whole population, is it worthwhile is it S23: [2074.509] is is population in Scotland very mobile? do they travel ? S22: [2075.059] no [2078.881] you could do that in isolated population but not in population that S23: [2081.981] or we just assume, Glasgow is Glasgow S24_T3: [2083.403] [?] kind of mutation do you get with CF? S22: [2085.093] yeah [2086.956] a thousand S21: [2087.486] the most common [?] the most common S24_T3: [2088.323] so could you possibly test the whole population for the S22: [2091.570] no S24_T3: [2092.171] well so S20: [2094.030] basically you just say why it just wouldn't work S22: [2096.818] just you know [group laughter] S6: [2097.911] [?] you just cut it short S22: [2100.918] yeah S19: [2101.574] that's going to be short S22: [2103.893] most important thing is why S23: [2105.423] yeah but we seem to have a lot of actions up there S22: [2108.158] yeah S23: [2108.466] we can put in other one of the questions S6: [2110.324] i think we've covered everything right? S22: [2111.582] yeah S21: [2112.730] yeah S6: [2114.006] questions S20: [2114.617] issues S23: [2114.968] ok S6: [2115.609] questions S19: [2118.959] i'll write it here S2: [2120.399] yep S19: [2121.802] so first S22: [2124.942] first new born []? S24_T3: [2126.776] that was the easy one at least S6: [2128.618] ah what does PKU CHT NOTES: [2131.486] [laughter] S24_T3: [2134.316] well i can see one even easier than that, the usual one S22: [2138.264] management S19: [2139.248] where where S23: [2141.129] what is S2: [2141.869] what is new born screening S22: [2143.403] yeah S24_T3: [2143.950] eh ok well i think S19: [2146.082] what are the screening tests for CF? or S24_T3: [2149.083] well i mean look at the bottom of your S22: [2149.284] or general [?] S24_T3: [2152.369] what have we got down there? S22: [2153.855] management S24_T3: [2154.238] what's the usual? , and S4: [2154.498] [?] uhuh S24_T3: [2155.428] and? S6: [2157.059] clinical features ok S22: [2157.474] ah clinical features S24_T3: [2158.239] uhuh S22: [2159.824] uhuh S19: [2163.924] clinical features and management? S6: [2165.786] yeah S23: [2165.979] also yeah S24_T3: [2166.362] in order in order to do the management what do you need to know S4: [2169.641] clinical features S24_T3: [2170.632] so. S19: [2194.952] ok S22: [2195.633] should we talk about in general about the new born screening like Phenylketonuria Congenital Hypothyroidism or, in detail S24_T3: [2202.442] you can mention then but you don't have to go too deeply in to em, PKU and CHT, cos the PBL [?] CF S21: [2210.832] yeah S24_T3: [2211.189] that's just uhuh a sort of secondary for S4: [2214.305] so she can [? do] something about this this this this this patient S24_T3: [2216.929] possibly if you're talking about screening then S6: [2218.696] but there is nothing over here about the those two diseases are they mentioned [?] so yeah S22: [2219.844] oh S19: [2223.568] for now they're just mentioning them S6: [2224.988] yeah S24_T3: [2225.092] [??] uhuh S19: [2229.794] the screening tests for like what is the screening maybe we could put like new born screening and protocol together protocol? S23: [2231.488] screening tests for CF S19: [2234.550] like what is the screening S22: [2236.710] maybe we could put like new born screening and, protocol together S6: [2242.381] protocol? S22: [2243.432] yeah like mentioning about Phenylketonuria and Congenital Hypothyroidism and [?] and then protocol for CF S6: [2247.534] IRT testing S20: [2250.562] standard protocol and then you can do a different way [?after] S23: [2251.142] ok S22: [2251.579] uhuh S19: [2253.236] what what is the screening protocol in new born babies? S21: [2258.522] focus on the screening S24_T3: [2261.752] i would mainly stick to CF to be honest S21: [2263.142] yeah S6: [2263.186] um S24_T3: [2271.042] it's just as S21 stated earlier it's just the fact that they've taken because they have the blood sample they couldn't do, all three tests S6: [2279.044] do you think we need to mention about the IRT? wouldn't that? S19: [2282.598] yeah S6: [2284.839] yeah S22: [2285.090] uhuh S23: [2285.340] S4: [2294.406] so is there standard and alternative? S20: [2296.785] yeah well if we've to find an alternative one for the, the DNA thing, that might take quite a bit of research cos it's probably not something you could just find [?] S24_T3: [2308.262] i don't think em S23: [2310.392] do you think the second? S24_T3: [2311.745] i mean do you think if, if she had the protocol do you think you'd get i mean what sort of information are you going to you get from that the screening protocol, i mean what is it is it do you know if there's a definitive test for CF? that, that's not DNA? S6: [2313.401] [?] S19: [2327.478] no, no no S24_T3: [2328.899] no? S21: [2329.446] no S24_T3: [2331.086] ok NOTES: [2331.687] [laughter] S6: [2332.015] what what what's the question again sorry? S24_T3: [2333.919] do you know if there's a definitive test that can be used that that's they rely on despite them being able to do DNA S21: [2339.823] so it's better it's better to cover the reason that's why the S19: [2341.682] sweat test S22: [2344.306] sweat test S19: [2344.743] sweat test S21: [2345.509] [?] S6: [2345.782] and just a sweat test S23: [2347.039] just a sweat test yeah S6: [2349.020] but that that that would, would be a definite will give you a definite answer? S21: [2352.097] yeah S24_T3: [2352.315] well you've got you'd have to find out obviously you're going to do the protocol? but you'll find out, by following the protocol if there's a non DNA what hopefully S6: [2358.247] non DNA S4: [2362.077] so that should be [??] S6: [2362.481] so that should cover the non DNA test as well? [2366.635] i'm going to be a big er S19: [2368.786] [?] NOTES: [2368.786] [laughter] S20: [2369.369] there's the flow chart S19: [2370.571] yeah S24_T3: [2372.339] well that's S20's just mentioned because you know how when you put your information in to tables and what did S20 just say there S22: [2372.539] alternative screening test S23: [2379.603] um flow chart S20: [2380.814] [laughs] S2: [2380.814] flow chart S24_T3: [2381.534] uhuh so it's [?] yeah [multiple s4 s ?/]in what form ? flow chart or S19: [2382.613] [?] a flow the practical S4: [2384.362] yeah S24_T3: [2384.799] yeah but in what form? S22: [2384.854] yeah [2386.354] flow chart or what S6: [2388.120] so non DNA including the non DNA S24_T3: [2389.118] so that the person knows that S23: [2394.257] [?] S20: [2395.440] saying that would you go in to the specifics of like, how IRT's related to CF like why or S24_T3: [2404.732] [nods] S23: [2405.465] i think that you need to cover that in screening part S20: [2407.846] in the screening bit of it S6: [2409.436] so you will cover the IRT and non DNA, testing on that question? you can just er S20: [2417.623] ok S19: [2418.293] well yeah because you we'll probably go into diagnosis as well (4) so you you think we should do an extra point just about IRT S24_T3: [2429.161] you had a the lecture this morning on screening yeah? S2: [2432.002] yeah S4: [2432.652] did we? S6: [2433.272] yeah NOTES: [2433.370] [all laugh] S24_T3: [2435.338] was that the wrong question to ask? S22: [2437.298] no we did like we did but for Down Syndrome ah S24_T3: [2441.056] oh right ok S22: [2441.587] second trimester screening for Down Syndrome S24_T3: [2442.773] right ok it wasn't CF right ok. i just wondered if it was CF at all S21: [2446.057] we didn't we didn't cover CF not [?] S22: [2446.439] no S6: [2447.095] no S20: [2448.407] not this morning S6: [2448.845] no not CF yeah S21: [2451.086] don't we S22: [2451.264] i think we have got that lecture tomorrow S21: [2453.755] yeah S24_T3: [2454.515] are you [?] so you've had [?] has given you S4: [2457.107] [??][ laughing] S21: [2458.146] ok S24_T3: [2459.185] what's so funny about that? [group laughing S24 not sure of an in joke?] S4: [2461.262] we need to [?] NOTES: [2463.121] [group laughing with S4] S24_T3: [2464.050] all right ok fine S21: [2467.385] but i think we didn't cover CF S22: [2469.065] no no no it's S24_T3: [2469.626] i was just asking about [?] S6: [2470.173] [?] S22: [2470.719] it's tomorrow's lecture yeah S24_T3: [2472.302] ok S6: [2474.054] all right S19: [2474.218] what else what else? S22: [2476.131] uhmm S6: [2476.781] the assess- S19: [2477.392] calculation, for sensitivity specificity ? S22: [2479.552] ok and incidence [2481.407] assessment of the tests S23: [2482.009] assessment of the tests S21: [2482.446] of tests yeah S23: [2485.179] the assessment of screening tests (14) NOTES: [2486.338] [scribe writing] S22: [2505.442] do you think we should include erm incidence carrier incidence in assessment of the test or in IRT, when we talking about IRT because that's also related, (4) to IRT it says higher frequence of carriers in the group of babies with high IRT levels S6: [2528.211] so it should be important [?as well] S19: [2528.218] that was a [?] point yeah S23: [2530.125] it [?] should be part of it, because it's the same you need to get information from that part [laughs/giggles ] S19: [2539.429] so here? NOTES: [2540.803] [scribe writing] S21: [2541.319] for a S19: [2545.502] incidence S6: [2546.272] and [?] (7) great S19: [2557.415] ok S22: [2562.280] diagnosis ? S21: [2564.057] no we've had diagnosis er [?] issuesand whole population should be together S6: [2566.357] if it's a ethical issue? S22: [2570.781] yeah S23: [2570.781] yeah i think yeah S21: [2571.656] yeah makes sense S23: [2573.679] makes sense at [?] issue in the whole population, screening S6: [2578.927] no carrier risk that's for the carrier risk S23: [2580.899] yeah the carrier risk for the whole population these two can be together S24_T3: [2584.367] well i would be you can make them separate S6: [2587.078] uhm? S24_T3: [2587.756] would you what what are you saying your having the population and the carrier risk together? surely if is ethical issues the same as screening? S22: [2596.981] no S6: [2597.471] no S2: [2597.635] no S23: [2598.564] no, i think we're putting them together it's because you might not have lots to write about whole population screening S6: [2598.892] no S19: [2605.999] yes you you probably will just take no? because [laughter ] NOTES: [2609.891] [laughter] S20: [2610.492] because of ethical issues like S24_T3: [2612.788] but i don't think it's that how you do it [group laughter] S20: [2615.412] yeah but the whole population could be could like mutations that are prevalent and then look at the mutations in other countries and, like cos cos like there's like in Glasgow there's like a huge number of people that are from outside Glasgow so they they won't have the same mutations and stuff so you won't be able to it's just [??] S23: [2617.907] no no but it's S22: [2626.435] yeah S23: [2633.539] ok then the whole population of [?] [? inaudible false starts?] S24_T3: [2637.392] on that then if you're if you're looking at the different population you're looking at the what? S22: [2641.644] diversity and history S24_T3: [2643.243] and S23: [2644.370] ethnicity S22: [2644.609] ethnicity, ethnic- history S24_T3: [2646.304] you're looking at how all the how S21: [2648.327] incidence? S6: [2649.584] not actually S24_T3: [2650.474] well [?] incidence or what else? S6: [2653.175] i think it's the population movement there's a lot of that in out and also the S24_T3: [2657.707] if you look at the if you're looking at mutations [?] all the S22: [2658.964] like the incidence within the population S24_T3: [2663.173] incidence what's the other word? S20: [2664.868] prevalence? S24_T3: [2665.619] no [group laughter]common S21: [2668.312] most common S24_T3: [2668.470] em S23: [2670.113] the most common mutation in the, that group of population S6: [2671.045] mutation S24_T3: [2672.631] no i suppose yeah S21: [2674.681] yeah S19: [2676.704] so are the whole population where [trying to formulate a question] S20: [2681.132] like well what about saying whole population, just cause? S24_T3: [2685.396] well what's what is it you're looking for in CF when you're talking about the population? what somebody mentioned it earlier S4: [2690.921] carrier risk S24_T3: [2692.507] carrier [? of] what? S4: [2694.256] frequency S22: [2694.693] frequency S24_T3: [2695.117] yeah S4: [2696.333] it's S6: [2697.114] [?] [group laughter] S24_T3: [2699.168] so that's what you're looking for in a population S22: [2699.874] yeah S19: [2702.764] so it would be common mutations and carrier frequency? S22: [2706.684] and we could put the whole population and carrier frequency S24_T3: [2707.301] well, you have a i'd have the mutation one separate as cos you're looking at the mutations for CF S21: [2716.811] yeah different types S24_T3: [2717.521] and then you're looking at em carrier status, frequency S20: [2723.399] like like S22: [2723.945] like different mutations S24_T3: [2724.328] [?] worth while looking in a population at the S20: [2725.421] yeah [2728.701] yeah right S19: [2732.027] how frequent (5) all right (7) S24_T3: [2753.283] what might you want to know about the mutation? S20 kind of touched on it, just, a minute ago when she was saying S19: [2761.432] eh different populations S24_T3: [2762.029] uhuh S19: [2763.615] that goes here right? (26) S6: [2783.624] er, (6) but again we we didn't mention about er the carrier er risk the carrier population, status, is it possible to screen the whole population for carrier status S22: [2803.883] yeah that's [?] S24_T3: [2806.865] so how do you work that one then ?(3) S19: [2812.292] because population S24_T3: [2816.313] i think S6's said it earlier about the S6: [2818.940] i mean is it is it useful to do a ca- a carrier carrier population S24_T3: [2822.151] [S24_T3 nods] S4: [2823.831] what about the practicalities or something like that ? screening the whole population S6: [2825.471] yeah S22: [2828.040] but i think that all goes in whole population screening and carrier frequency. [? although [?]] S24_T3: [2833.179] you're looking at different things are you not? what are you looking for the the one that's gone up there you're looking at mutations but what are you looking at for S6: [2841.918] should should we include it to the previous one? or or should S24_T3: [2844.505] no you could do it as a separate S23: [2846.596] [S23_T3 nods] S6: [2846.596] separate? ok S24_T3: [2847.797] there's not a lot of objectives [S6 yeah] in this particular ehm, PBL but S6: [2849.556] yeah S21: [2852.016] but still we we need to cover diagnostic testing and sweat test S22: [2856.061] yeah [? our] test S23: [2857.155] now we just need two more questions S6: [2862.168] that would be eight [watching scribe write on w/b] S23: [2865.175] so it could be ARMS S22: [2866.760] i think we could put a question that's just interesting because we had that it [? crim] lab also the, the most common mutations in Scotland ] [? delta F 5 0 one ] the mechanism how it works how it happens how it mutation like, cause the phenotype, that would be interesting S21: [2875.780] yeah S24_T3: [2885.515] is that not that are you not cover in mutations no? you could pop it in with different populations? S22: [2890.857] yes we could put there S19: [2893.408] it's there S22: [2897.330] uhm yeah i thought only about mutation but also what's the mechanism how they how they ehm, this genes aff- gene's effect on protein, because there's some like for in transport function or other functions [all the rest very quiet here] ` S19: [2898.561] [?] S23: [2917.044] i think S22: [2917.515] it would be interesting S23: [2918.358] no i think we that is ok S19: [2918.412] you mean the the [? fine] types of mutations? S22: [2921.723] yeah and how they work how they cause this disease because the different types of mutations, point mutations also i don't know splice site mutations and they have different, um affect on the protein S19: [2922.732] umm S21: [2938.968] but here they mentioned thirty different mutations so it's too much to cover all you know S19: [2944.036] yeah it would be [2946.113] well there's the classification that says eh these kind type of mutations ehm [?] S22: [2946.715] i mean not all but [2951.416] yeah there is many type of mutations in CF S19: [2955.137] there's five S22: [2955.597] there's one causing this disorder one S19: [2959.179] [?] into the membrane other one's [?] things like that but i don't know if that's S20: [2965.941] well if well see how what we've got but yeah if we don't have enough stuff we could put it in but, i don't think we really S19: [2967.909] if it's too short S22: [2977.083] and also i think some of those mutations we should know for the exam so it's good [laugh] beneficial to know it S19: [2984.419] yeah S22: [2984.934] yeah S23: [2986.644] we can go to diagnostics right ? S19: [2988.995] diagnosis S6: [2991.673] the ARMS test S24_T3: [2993.313] what time is it? [whisper] S4: [2995.992] [says time [?] twelve thirty two] S6: [2995.999] um? S19: [2997.673] diagnosis S6: [2997.673] yeah you got a little [to S24] S24_T3: [2998.616] no just cos i think we that's the problem in [?] we use the other rooms it's we've got five minutes [?] waiting to come in it's the problem when we use other rooms you see it's S19: [3011.867] again like diagnosis protocol or you want to get into each test S21: [3016.330] no it it's better to put ARMS and and sweat test [? together ] S22: [3019.001] yeah S6: [3020.214] sweat test [3026.819] that someone out or? S24_T3: [3028.652] yes cos when we hire the rooms you only get the hour so, hire rooms it sound like we pay you know i mean when we book the rooms S6: [3029.522] yeah S2: [3034.863] there's not much to write about sweat tests though S19: [3037.234] yes S20: [3037.760] yeah it should be together S2: [3037.760] it should it should be the one S20: [3039.236] yeah [?] carrier management S19: [3040.986] we we one more thing [?] these together we will need one more thing S23: [3041.806] we have mentioned [?] S6: [3043.008] we got management [?] [3046.835] all right you can give [?] S24_T3: [3047.272] you sometimes can't make up you know, enough objectives what you got there ethical issues haven't you? yes ?[S20 yeah] em i mean you have covered everything that you have to cover em, if there's something some well i mean S22's mentioned about pathways and things that's something that, you particularly want to do, so as long as you cover the PBL objectives then you know [?] S20: [3053.617] yeah S19: [3069.923] eh the types of mutations ? S6: [3072.899] no S19: [3074.047] we need one more thing S6: [3075.477] what S19: [3075.798] they or we do these separate but there's not much S6: [3078.694] we'll do them separately S2: [3079.459] no the sweat test there's nothing to write S6: [3080.990] ok S22: [3081.530] yeah S6: [3082.378] i'll do it S21: [3082.432] take it NOTES: [3083.012] [group laughter] S4: [3083.854] [?] S2: [3085.330] yeah i'll take [?] S6: [3087.190] thank you guys thank you S20: [3089.424] are you saying S4: [3089.703] but you know we've got thirty you know how you were saying there's thirty tests thirty mutations to do here, i think currently is there not fifty that they're doing downstairs and stuff like that? maybe [??] S21: [3099.687] no i think five S2: [3100.879] see the one with the assessment of IRT tests and stuff [??] maybe two people could do that because there's a lot S4: [3102.719] [?] [3105.755] i think they do a kit [?] fifty now S22: [3107.570] we could do that , [to S6] we could do that assessment of S19: [3109.920] isn't it going to be long? S2: [3111.831] ah it's not so much what to write but there's a lot of, with em S24_T3: [3115.890] sorry i'll need to push you with [??] we really need to S19: [3117.584] yeah S22: [3118.524] me and S6 for assessment S19: [3118.544] ok i think we should S24_T3: [3121.630] someone will have to quickly write down so that you can remember so you'll have to [?] S20: [3125.884] are we doing S22: [3126.322] [??] S20: [3127.682] are we doing ARMS and sweat together or as separate ? S2: [3129.820] yeah we should do it as one S20: [3131.132] one ok S19: [3132.294] ok yeah it's one S6: [3133.545] but you know i'm not going to be here [to S22 about objectives] S2: [3134.084] the first one S22: [3134.956] umm? S6: [3135.232] i'm not going to be here on Friday S21: [3135.888] [?] S22: [3137.362] oh no? oh ok it's not a problem anyway i want to do that one S4: [3138.236] so is there seven [??] [to S19] S24_T3: [3140.517] [??] because people waiting to come in and we need to have it written out sorry to rush you but unfortunately, it is [?] S19: [3140.587] [?] ARMS S6: [3147.210] so are you going to do separate the sweat and the ARMS? no no ok S19: [3149.016] no, [?] S20: [3152.570] er S19: [3152.909] S23 S20 what do you want? S23: [3154.511] ok i do the second one then, screening protocol S20: [3160.222] can i do the, is the whole population useful thing S19: [3163.742] where are we? the mutations NOTES: [3166.730] [S?] number S24_T3: [3167.276] the second one from the end i think is it ? S20? S20: [3169.736] yeah the second last one [?] S6: [3169.736] [?] [with S22 aside, inaudible] S19: [3170.666] ahm S4: [3172.157] i'll do the ethical issues S6: [3173.987] i will send you [?] S22: [3176.131] oh [??] that's ok anyway i want do that [to S6] S24_T3: [3178.991] so you quickly write down S19: [3180.123] S4 J? J? S4: [3181.658] anything doesn't matter S24_T3: [3182.970] G NOTES: [3183.954] [some laughter] S20: [3184.955] so who's not got one? S19: [3186.796] me, so, where are we ? S24_T3: [3190.414] the one above S20 S21: [3191.279] what's the mutations S22: [3194.184] so we are not putting mechanisms? of mutation, it's just so interesting [some laugh] S6: [3200.799] you do it then you know [some laugh] S22: [3202.002] ok you can do it S6: [3202.931] [? ] that stuff S22: [3204.119] i already finished assessment S24_T3: [3206.061] em, S19 will you send me a copy once you've got them typed out [ ? ] S19: [3209.491] yes. sure S20: [3213.974] S19 i think you've got [?] S19: [3216.588] you have everything? S20: [3217.627] yeah i've got [?] S19: [3218.994] with everyone's names? S20: [3220.495] yes S19: [3220.855] ok S24_T3: [3221.706] are you happy are you quite happy that you've got everything [?] take away S22: [3225.073] like take a photo S19: [3227.911] great S24_T3: [3228.506] are sure you're ok with that yes? you've got everything you need? S19: [3230.583] yes i have everything NOTES: [3231.448] [? inaudible asides as they tidy up and leave the room] S24_T3: [3232.058] thank you S4: [3233.528] S22 you've not signed it today S19: [3234.358] should i erase this S24_T3: [3235.798] yes please S21: [3238.818] it could be presentation on Friday? S24_T3: [3243.252] you can present yes that would be nice S22: [3244.951] i think i think in the it's S24_T3: [3245.923] [it would be nice for c as well] [3246.493] it would be nice for C as well [C observer] PBL 11 stage1 S25: [5.125] yeah i think it's S27: [6.078] ah S5: [8.237] [?] S26: [9.163] it's in my eye i think : [9.163] [lot of shuffling and settling ; inaudible] S25: [11.222] i hate that that. i always get eyelashes [??] go in to the eye and stuff i can never get it out so [?] S26: [14.651] yeah [??] because i wear contact as well i'm like, ow S25: [19.302] do you wear contacts? S26: [20.413] yeah oh i've gone eyelash shopping S28: [25.446] sorry S5: [31.405] i'm [??] S26: [33.881] [??] S25: [36.483] [laughts] : [37.755] [reading scenario] S25: [81.570] it's really strong [83.833] [laugh] : [213.507] [door opens] [218.069] [reading scenario] S26: [303.925] [??] just read that bottom bit S25: [305.995] yes S27: [305.995] yeah S26: [306.753] oh that's gorgeous (5) [313.659] i can't [?] S25: [314.738] that's [?] : [347.325] [someone quietly says something; inaudible] S31_T4: [355.681] so who's chair this week? S26: [366.534] silence (3) S28: [371.696] i can be (4) S31_T4: [376.981] scribe? S27: [381.161] i can do it but S25: [383.537] you've done it yeah S26: [386.094] i can do it S25: [386.811] ok S26: [389.515] do i need to [?] the white board [?] whiteboard S31_T4: [392.018] umm i think so yeah [396.344] there's one just here S25: [402.746] the problems? [405.325] i'll read it. i'll [?] [408.273] FS forty nine has, endometrial cancer diagnosed five years ago. her sister JC is currently healthy at fifty three, but J's son P thirty four was diagnosed with colon cancer two weeks ago and is about to undergo surgery to remove the cancer J's sister K thirty two is healthy, F's brother IS forty seven, is the father of J twenty three and I twenty one, but he has been living in England and out of touch with the family for some years since his divorce from his wife M forty eight. the father of J F and I died of bowel cancer in his late sixties, and their mother is still alive. FS has been in touch with J and I to suggest that they speak to the Clinical Genetics department because of all the cancers occurring in the family. F tells J and I that the doctors said that the cancers match the Amsterdam rules, which makes it possible that there is a genetic predispostion, to cancer in the family. J whose undergraduate studies included some cancer biology asks whether they found lots of polyps in P's colon, but F does not know. J and I made an appointment to speak to a clinical geneticist, but before they do this, they go online to find out more about inherited colon cancer, they discover that there is more than one kind of inherited colon cancer, including FAP HNPCC and MAP. they are getting quite worried about their risk of cancer and plan to find out, from the genetics department, about what kind of tests might be available to them, at the end of the consulation, with the clinical geneticist, J and I tell the geneticist, that they would like to go ahead with testing, no one in the family has had any genetic testing previously. : [408.273] [S25 reads out scenario to group] S28: [508.841] thank you very much, er S25 is there any terminology problem? S7: [514.276] FAP [?] S5: [515.381] [?] S7: [516.334] yeah MAP S25: [517.371] MAP i've never heard of. FAP, i think, Familial S5: [526.242] Familial Adenomatous Polyposis S25: [529.531] mm [laughs] yeah S29: [530.953] ok S27: [532.952] the others S5: [534.168] er S28: [534.623] ah S26: [534.866] can we just have cancer genes ? S29: [536.309] yeah S25: [536.359] yeah S5: [536.359] yeah S26: [537.189] [?] think[?] S25: [538.339] hereditary non polypo- polyposous S5: [539.821] uhuh it [?] S28: [539.821] ah uhuh S25: [541.344] it also, i know this is really silly i do know the word but i don't actully know what it, what is endometrial cancer S28: [547.179] uhuh me too S7: [547.786] me too S27: [548.244] yeah S5: [549.349] well you S28: [549.354] something inside? S25: [550.575] in the uterus S27: [551.088] endro is em, where is the baby? S25: [554.212] uterus S5: [554.630] uterus S7: [554.630] uterus S29: [554.959] the uterus S27: [555.279] yeah : [556.150] [laugh] S26: [557.756] endrometiral, it's a sort of lining of, something S25: [559.006] uhuh [560.582] uhuh S29: [560.741] yeah S7: [562.762] it is a lining of the uterus S25: [563.953] yeah, i thought that but i wasn't sure S28: [566.910] ? nobody else S25: [568.498] [laugh] i [?] pulled a muscle in my back and i can't, turn round S7: [570.708] and do you know S26: [571.180] [laughs] [573.336] [laughs] S25: [573.439] like i can't turn my neck S26: [573.945] do you want to [?] or S25: [575.109] i know [575.840] [laughs] [576.659] i think S26: [577.259] ah S28: [578.771] endrio like something inside yeah? S27: [580.803] endrio is inside. demetrial is er, the uterus S25: [581.177] uhuh S28: [582.200] right [583.598] yeah S25: [584.550] yeah. cos i thought that. but i just wasn't sure, cos it didn't go with the rest i thought you know there's something else. (4) S27: [585.849] [??] S28: [594.139] is that related to the area where is the colon is? S25: [597.286] i don't S7: [597.660] yeah the front in fact S25: [599.793] [laughs] [600.253] but i don't know i mean like, uteral. like something in the uterus and something in the colon, i don't know if they are, linked are they? S27: [607.745] i don't know if they are linked but there is S7: [609.382] the the colon is, the large intestine S29: [613.127] yeah : [613.127] ?? someone eyah S7: [613.438] and the endometrial is, the lining of the uterus, ah not quite linked. S26: [617.998] it's definitely the lining of the uterus S27: [619.851] i don't know is it, S5 what is endometrial S7: [619.851] yeah S25: [620.332] i think so, i'm not sure. S5: [624.172] ah? S27: [625.069] what is endrometrial? S7: [625.069] ? where is it? S5: [625.841] ah it's er from, i'd say er [?] it's er S26: [631.948] are you going to draw a uterus? are you S25: [633.786] [laugh] S5: [635.497] it's a, uterus. so, nerves of the the S25: [635.848] [laughs] [638.468] S26: [638.468] [642.307] it's a [?] lining of [?] S27: [643.657] yeah. S26: [643.715] S7: [644.874] yeah that's what sheds during? S25: [646.552] yeah S5: [646.552] ah the menstruate er the last er, layer . S26: [650.611] yeah S7: [650.738] yeah S5: [651.315] so [?] it change with the cycle S7: [654.231] yeah yeah S5: [656.341] so the cancer is around S27: [659.955] i don't think it's called endometrial, when it's er, you have an [?] it's [?]? S28: [664.581] so does this [??] [overlap] S27: [665.524] so you say women have it in uterus endometrial where men endometrial endometrial in the colon S5: [667.817] no no no . the, [overlap; not all audible ] about the uterus S29: [671.303] yeah S25: [673.032] i think it's just it drops off. off the [?] unless, you might get some kind of inherited colon cancers that have a link, you know S26: [674.002] shall i try and draw the family tree? S29: [675.987] yeah S25: [681.149] S26: [681.397] [??] S28: [681.715] are you S7: [682.768] S5 what is, A D, E N O [spelling out] S28: [683.346] it's, ah ok S5: [687.026] yeah, adeno [?] S25: [689.355] M C S7: [689.990] oh S28: [690.586] oh yeah S5: [691.234] i'm not sure it's i'm not sure if it's, the other two [?] S31_T4: [695.576] [? now that should be one that] : [695.576] ? S26: [697.376] is this mine? S28: [698.635] oh sorry : [698.991] ? S26: [699.502] it's ok S5: [702.008] and, (2) and well, most of the cases, about the, colon cancer so, [? more] than this is the, bowel [drawing] (3) that is (8) this is the bowel [referring to drawing] : [725.119] S/o? uhum [726.732] [laughter] S28: [727.683] yes S5: [729.016] bowel [? cancer] S29: [731.399] might be S5: [733.006] then ah, the, we call polyp, and em, one, em one thing the, external, polyp in the layer, this is [?]. ok? so, a polyo is like, protuberance S26: [733.260] tell me [?] S7: [753.073] yeah S26: [753.374] umhum S5: [754.397] you know? it's (5) so, it's normal, uh depends on the age but, er the studies, found that the people around, seventy years old S29: [770.562] uhum S5: [771.568] they have polyps and it's normal. ok? but in those cases, [refers to 3 on board] they they have polyps in the early age. around, i don't know, i mean twenty or thirty. so, the change that er, i mean the bad thing about the polyps, is that there is ah, transformation. and then, they grow and, they grow a lot of [?this] and they start to grow to to be [? external] [?]. ahm, this transformation, er result in [? cancer] S26: [810.003] right S7: [810.003] umm S28: [811.586] uhum S5: [812.544] ah the [?] the the symptoms of the patient referred is the the, the there is er blood in the faeces. S27: [820.123] ah S29: [820.350] ahh S28: [821.176] uhuh S5: [822.012] red blood S28: [824.793] is it a lot of blood or even, er S5: [824.857] red red blood S7: [827.714] just traces S5: [828.540] usu- can be er just drops traces. but red blood. that's important. fresh blood S25: [835.462] [?] you know the polyps in the one with the that the second type, see this, that could be non polyp as well S26: [839.874] uhum [841.650] you can get a non polyposous type of cancer S5: [844.891] yeah . this is S26: [845.695] different S5: [846.479] yeah it is, ok one of the, ways that you can get cancer in the bowel, ok? but there are many, so in in this case, you don't have, the polyps S26: [858.638] uhum S5: [859.229] ok so that's [?] (6) [867.256] ok but you know : [868.898] [laugh] S5: [870.433] and, this is the epithelium (3) and the appearance of many factors, that something can be developed S26: [881.806] uhum S5: [882.447] er up there and can damage. the, you know the other linings S26: [888.610] uhum S5: [888.732] [?] the bowel. not only polyps, are related can be other [?] (4) S28: [893.586] yeah S26: [899.007] can i just check you see [?] correct before i just leave it up there [talking about family tree] S27: [902.346] you shouldn't do F also S26: [904.276] i wasn't sure cos is it connected ? cos like these are both bowel, and then this was the endo am i calling it [?endrometrial] ? S7: [910.419] yeah S5: [911.006] i don't know S25: [911.308] yeah i think you normally should i- in general i think you should colour in everyone affected and then you always write underneath don't you what they've got. but i can't remember. (3) S26: [911.689] [?] [overlap] S7: [920.983] yeah S27: [921.278] yeah i think you just write, underneath their name, the type of cancer . S26: [925.535] so there's S25: [926.536] so (3) S27: [930.451] S25 do you want to sit here ? i can sit there. [ s25 bad neck, problems turning round] S25: [932.671] yeah actually that would be great right. please. [laughs; gets up and changes seat]] (8) [935.084] [laughs] S26: [943.491] which pen- ? where was the pen you were just using it's [?] ? cos it's better than this one ok? S29: [947.632] [?] [directing to pen] S28: [948.000] do you use the other pen ? S26: [948.825] oh no i think that one's just a bit better.[??] the same. [gets new pen from S5] (2) thank you. S27: [954.975] [??] S26: [956.736] yeah [?] S5: [958.567] does anyone knows what is the Amst- Amsterdam rules? S26: [962.197] no S25: [962.787] no S26: [963.346] i think that's something we need to look up S25: [964.283] no i'm sure we've had it in a lecture, but S26: [965.934] really? S25: [966.483] yeah well, i i just remember look- or maybe it was something else i was looking through, but i saw term and i thought oh it it's not new to me the term but i don't know what it is it must be like the criteria for S26: [976.222] which one? S27: [976.722] em S25: [977.162] Amsterdam rules S26: [978.283] ah S27: [978.283] [?the brother ] they found in the [? brother ]and er, two members in, different generations with [?] cancers S5: [986.278] umm S26: [986.864] do you guys want me to write i mean just a list of things or am i doing a, spider diagram what do you want me to do? S29: [989.595] yeah S25: [993.499] yeah list of things, yeah S28: [994.009] list of S26: [994.802] shall i just do it here or shall i [referring to parts of board] S25: [996.362] you could probably rub that out S29: [997.244] yeah S25: [998.133] the the [points]. yeah it is S28: [999.093] yeah. you can take it S26: [999.593] this? are you sure? S28: [1000.584] yeah S5: [1000.883] yeah S26: [1002.796] sorry S25: [1003.535] [laughs] sorry your uterus S26: [1004.165] you just drew it i know S5: [1004.610] [?] [??] S26: [1006.067] what about this one? S25: [1007.397] your interesting uterus [to S5] S28: [1009.308] i think it's mentioned here because the eh it's er affect the diagnosis. two different diagnosis do you think so? Amsterdam rules and the [quiet? others not sure what he is saying?] S5: [1018.156] er (3) S28: [1021.268] maybe eh, it's related to a the diagnosis method S25: [1022.243] [? no] S27: [1027.051] no i don't think so S29: [1027.331] [??] maybe the genetic cancer in the er in the family. how it's important S7: [1032.558] yeah even i was thinking the same S29: [1032.558] S27: [1033.108] yeah it think it would be the principle er, [? we should really look] the predisposition if it's genetic or not yeah S7: [1034.571] yeah S5: [1037.682] if it's not [?] S7: [1038.718] yeah S29: [1039.653] ah yeah S28: [1040.726] mm S26: [1041.291] so what's that? S25: [1041.937] let's find out [1042.890] [laughs] S26: [1044.287] what shall i write? S27: [1045.633] Amst- S25: [1045.878] about the Amsterdam rules. yeah [answer to S26] what [?] what are they. em S26: [1046.649] is that right? S27: [1051.449] and do you know why he asks, how many polyps they found in P's colon S26: [1056.903] oh because i think you can get, normal ones anyway normal polyps anyway it's just S25: [1059.641] uhuh S5: [1059.959] yeah S27: [1061.801] ah so it's the number of S25: [1063.340] yeah yeah, i think so so like FAP, when you have a really high number of polyps so you can then distinguish which kind of hereditary cancer it is S26: [1071.013] yeah because this one is not polp- this one has no polyps but it's still a type of cancer. i guess they can't be [??] sort of things don't they? S25: [1073.641] mhum S5: [1074.593] well because the other the the first one, you get, a lot it's full bowel. [??] it's not, you know like flat. it's, full of polyps. same familial. S25: [1076.562] mhum [1085.671] yeah S7: [1088.544] how do you find that out? S5: [1090.305] ah they perform a endo- an endoscopy S27: [1090.887] uhuh S26: [1092.665] endoscopy [?] S7: [1092.678] oh S26: [1094.507] they're like [?] S27: [1095.714] i know it S25: [1096.412] yeah. types of S5: [1097.428] uhuh S7: [1097.969] endoscopy's painful S25: [1100.349] inherited ones [to S26 who is writing on board] S28: [1100.603] camera? they use camera [gestures ] S25: [1102.191] uhum S5: [1102.636] yeah yeah, one S26: [1102.800] yeah [?] from the inside : [1104.140] [laughter] S5: [1106.420] they don't [then laughs]. with the [?] S25: [1115.895] you could do nice S28: [1115.895] it's always inherited? S26: [1117.235] with bowel cancer don't they S29: [1118.608] most of the S25: [1119.263] do you think they would then decide, like if if the Amsterdam rules is the criteria, for determining like for to say whether it is, genetic like you know em if you're predisposed or not, do you think then they use that, and then they say, oh ok could be, you know it matches it, so there might be a genetic predisposition and then that's how they decide what tests to use? S29: [1119.968] S27: [1139.745] yeah S25: [1140.133] yeah just to diagnose S27: [1141.149] and then they decide to [? determine] some things S26: [1143.745] with the em, the bowel cancer they do the screening tests for the over like fifties and they get just like a stool sample and they, so they check i think first they do is check the blood, i think that happens in all bowel cancers S25: [1152.418] uhum [1155.567] so it's like a first test like a first [1157.752] yeah i think you're right S27: [1159.911] [??] one S26: [1161.563] to bowel cancer, you have [?] the same like it's a screening test that goes out, to everyone and then you, like give like a stool sample, and they check it for blood. and if there's blood they bring you back for testing. i think like if you have polyps and stuff it gets maybe? S27: [1172.220] mhum S7: [1175.895] they give S27: [1176.826] yeah but they don't test for any gene mutations S26: [1180.181] no not then S25: [1182.254] em also can i just ask so the first paragraph, so P was diagnosed with colon cancer is that the same, as the bowel cancer? that I died of S28: [1190.017] yeah this is the one i want to ask S5: [1191.466] yeah. S25: [1192.361] so it's the same [?] thing. yeah. S28: [1192.998] it's the same thing S5: [1194.143] yeah maybe if you know the the location. but bowel is exactly [?whole] S25: [1198.452] yeah, that's what i thought S26: [1199.169] [?] is a specific part S27: [1201.817] the last one S25: [1202.928] so it's [?] S5: [1203.786] no it's colon [to s27]. bowel. S25: [1204.836] so do you think it's two different cancers? S27: [1205.436] [?] S26: [1207.580] i think just the it's all the intestine isn't it it's just different areas S7: [1210.033] this one is the rectum S5: [1210.530] [?] the bowel S28: [1212.321] yeah the colon S25: [1214.087] yeah S5: [1214.087] that part here [to board] S7: [1214.687] no i don't, that's the rectum. the entire thing is called the colon the [? ] thing the transfers and the [? descending] is the colon S5: [1221.707] bowel cancer, is normally [?related ] like you know, superior, type of S25: [1226.190] uhum S7: [1227.188] of the transfers? S5: [1228.071] yeah exactly. S7: [1228.712] uhuh S5: [1229.549] the colon is more uh [S5 points to board] yeah S7: [1232.078] ok S25: [1232.967] so do you think that those two people have got two different things? [? it's not] S27: [1237.125] or maybe they have the same thing but different S5: [1240.016] in different places [??] the same S25: [1241.032] oh ok right ok S26: [1242.407] we need to sort of we need to look up the you know bowel colon endometrial [? just] to see if there is a connection, [?] looks like there probably is S25: [1247.387] mhum S28: [1247.593] mhum yeah, yes. (2) : [1249.314] [s26 writing on board] S27: [1251.197] i think the difference [?is/in] the Amsterdam. Amsterdam rules it will say that, one woman with eh, endometrial [?] [say the relationship? ] (17) S5: [1257.357] yeah S25: [1270.071] so do you think, do we have do you think we'll have to do like, like an objective for each of the familial cancers? in terms of, cos we need to know what they are, and like like the risks, and stuff like that and the tests, that's what it's about? do you think we need to do each S27: [1277.501] mhum [1283.428] [ nodding] [1288.180] yeah because maybe the, genes are different S28: [1288.434] yes S25: [1291.038] yeah most probably are i'd imagine. S7: [1291.788] umm S25: [1292.848] S5: [1292.965] well what about if there is like, one mutation you know? and, you know it's specific for and [?] er, for the cancer you know if the, one mutation can produce, different types of cancer S25: [1301.919] uhum [1307.043] yeah S27: [1307.043] yeah S29: [1307.043] umm S26: [1308.975] it probably can S28: [1310.193] yes S26: [1310.696] yeah. in certain genes which is [?] [very quiet] S25: [1313.519] yeah. [?] S26: [1315.875] [??] (8) : [1316.120] [overlaps; not all audible] S28: [1326.040] many aspects of each, er cancer type because it is always link with everything S26: [1331.642] yeah S28: [1332.354] it's quite difficult to, predict S27: [1335.798] so do you want to do one option what causes S28: [1340.245] mhm S27: [1341.097] one mutation [??] S26: [1341.587] just needs S5: [1342.945] i i think yeah, i think, the most important here is [??]. there are some specfic genes [1351.098] S7: [1351.098] yeah S27: [1353.149] i want to do it, like one S7: [1355.316] together S29: [1355.316] together or, like separate? S7: [1356.295]  S26: [1358.029] it depends how much detail we want to go in to but i guess if you just want to read decide if you want to do all of them you can then [??] immense detail about [??] S5: [1358.293] sorry? S25: [1360.034] yeah S28: [1360.378] together but separate er S27: [1364.064] yeah but we don't know [?} S26: [1365.473] : [1366.386] some laughter S25: [1367.848] oh what were you going to say S28 S29: [1368.531] [?] or even [??] S28: [1370.111] uhm? S25: [1370.571] what were you going to say? together about what? S28: [1372.846] ehm yeah. (2) one objective but er, separate, er topics S26: [1373.386] pardon? : [1374.509] [someconcurrent here] S25: [1380.858] yeah S5: [1381.546] do we need each one separate? the S27: [1385.146] yeah maybe and [?] S28: [1386.406] right S25: [1387.775] J? is S26: [1387.928] i think we need questions on [??] S7: [1389.135] HNPCC S25: [1389.198] [??] S29: [1389.770] yeah S28: [1391.825] i don't know but it said here because, they they found out there's three inherited types S25: [1397.702] mhum S29: [1398.232] yeah S25: [1398.655] [?] S28: [1398.655] so maybe it's S25: [1401.328] always there's tests S7: [1402.493] i was thinking whether bowel cancer and endometrial and colon cancer were just trivial names given to these three? S26: [1409.869] yeah. i mean it's really like, broad isn't it bowel cancer S25: [1413.469] uhum S26: [1415.428] we could probably go on about [?] S5: [1416.776] yeah that's what i was thinking probably they are just trivial names when they actually in medical terms they're called [?] S26: [1420.098] [??] [1422.089] i mean if you, you've got cancer you're not going to say oh i have [?] S25: [1425.231] [laughs] yeah : [1425.231] [laugther] S7: [1425.730] yeah exactly it's just S25: [1428.715] em S27: [1429.493] yeah but it [?can/can't be], endrometrial S25: [1433.967] so S27: [1434.223] these are [?] from colon S25: [1435.865] and how how they are inherited, makes all these different things like are they you know, (3) dominant and you know, all right sorry sorry i thought, i didn't see genetic. (3) i know, quite formal isn't it? S7: [1436.690] ho- yeah S29: [1438.659] yeah S27: [1442.278] how inherited S25: [1455.111] em S29: [1457.414] they asked a funny question it is em Amsterdam rules S25: [1460.566] yeah S27: [1460.636] yeah [1464.792] the main thing the problem is that, no one has been tested before so, they should test someone who is alive and have the, cancer S25: [1472.857] mhum S27: [1474.447] not [?both] S25: [1475.085] like P yeah S5: [1475.587] P S29: [1475.968] i think F's mother must be tested first S26: [1479.451] mother? S27: [1480.122] the mother will S26: [1480.658] the mother's got cancer S27: [1481.738] the mother's alive S29: [1482.118] she's alive S25: [1483.642] yeah S27: [1484.023] yeah but she's from the other side . the mother has S26: [1486.253] she might not have any [?]. it's not i don't think it's a recessive thing, well we need to look in S27: [1489.640] [?] S29: [1490.281] yeah we S28: [1490.656] no, maybe no S5: [1492.053] i think usually the cancer, it is recessive as a gene but [he's ] here it's dominant S28: [1492.336] but too [?] S26: [1498.325] by one person, and you have the predisposition S7: [1498.975] yeah don't [1500.753] but we wouldn't know, when er, the you know there there could be variants of interst. because it's cancer, you never know [1508.496] if S28: [1508.562] counselling is, very important S26: [1510.721] if if he has bowel cancer, he [?] pass it on S7: [1511.674] yeah S29: [1512.204] S25: [1514.315] umm S26: [1515.036] pretty sure (2) S25: [1517.886] but then, i i see what you're saying but then i think what you might find is that, F, it's either totally unrelated or it's because of the father S7: [1525.633] uhum S25: [1526.136] do you know what i mean S7: [1526.736] yeah S25: [1527.433] so you probably then should test p S28: [1529.414] or F S26: [1530.609] i i think the first person you test it wouldn't be this one it'd be one it'd be someone with the the cancer would be first but for testing i mean that's the thing who would we test here? that would be S25: [1534.038] uhuh S27: [1536.959] yeah S7: [1537.158] yeah S27: [1540.325] because P has, if there's a mutation P has it for sure S25: [1545.657] mhum S27: [1545.657] it's not, you know it's not like er S5: [1548.578] that's why [?] S27: [1549.918] no er S7: [1553.531] i was just thinking as to how, what what could be the possibility that, P has bowel cancer because, J seems perfect at that age, i mean she's not normal, like fifty three years old p S25: [1563.288] MM S26: [1566.014] i think, S7: [1566.490] there could be [?] S26: [1567.505] cancer's really very varied i don't know exactly like bowel or colon but a lot of cancers, if you have like a gene for it, you pass on the gene and then you need another mutation on top of that to get cancer, so J could have the gene and she's just lucky she just hasn't had the extra mutation. but then P, got the gene as well and he's got the mutation it's like a double hit thing? the cancer S25: [1585.274] and afterward if you found out that that was the case that it's familial, J would then have to go for regular, check ups all the time cos she's going to get the same mutation the older she gets S7: [1585.407] [?] S26: [1591.237] yeah S5: [1592.218] yeah S7: [1592.958] yeah yeah exactly S5: [1594.539] [??] S7: [1595.047] yeah. so that was what i was wondering if F has, cancer at forty nine years old, and J is completely perfect at fifty three ? S25: [1602.941] yeah S27: [1603.894] yeah but it comes via the environment the cancer. cancer is not just, one gene cause S28: [1608.720] yeah. environment er, food S26: [1609.609] something like smoking a lot S25: [1611.895] yeah S26: [1612.556] food? S28: [1613.327] food always associated fats. oil and fats. S26: [1613.991] [?] would food have? [1615.706] yeah but that's [?] problem for bowel cancer like when you eat i guess it's one of the S25: [1615.879] yeah S5: [1619.008] yeah it's eh fat and, (2) target weight you know [? a lot] S28: [1624.778] because when when the oil exposed to high temperature it's change it's structure of the S5: [1628.873] ah also you know that is it ham and sausages it's a [?] yeah S28: [1630.016] [?] yeah S25: [1632.302] and we eat S26: [1633.635] yeah S25: [1635.016] that's ok S28: [1635.206] hetrocyclic it's called hetrocyclic compound, the the barbecue, the barbecue S26: [1640.303] is that when when they say when you, like not to, burn things? S28: [1643.452] yes S25: [1644.177] is that it? is that right? S28: [1645.312] burn no, eh, i i i'm not sure i i know about the coal S25: [1649.808] uhuh S28: [1650.408] we use in barbecue. it's contain hetrocyclic compounds S26: [1653.540] so so it's bad? S28: [1654.421] then it's, interact with the with the protein the, chicken or meat S26: [1656.843] oh right S25: [1659.346] cos i know you're talking about it's something about carbon, in, burning things that S27: [1659.637] and [?] S28: [1660.656] it's [?] : [1660.983] [lots of overlaps and concurrent; not all audible] S26: [1662.901] there's something about burning [?] i don't know S28: [1665.873] [? yes it's right] S5: [1666.904] no more barbecue S25: [1667.925] oh right S27: [1668.604] no : [1669.275] [group laugh] S25: [1670.065] it's quite is it am i right in thinking that colon cancer in, Britain is really high compared, to other, like S26: [1676.923] it's definitely high in general it's something like one in, S25: [1679.527] or is it in Europe ? you know in terms of like, : [1681.305] [S? uhuh] S26: [1682.152] it affects a lot of people it's i don't know exactly one in ten one in twenty five it affects, it's quite high it's like the second highest cancer [?] S7: [1687.042] yeah S5: [1688.072] generally it's very high in western countries S26: [1688.693] [?] S25: [1689.900] and like is it related to food? S5: [1690.979] because for the diet S25: [1692.313] uhum S5: [1692.770] because and er, people doesn't er, doesn't eat a lot of S27: [1697.533] vegetables S5: [1698.526] just about five per week S29: [1698.549] yeah S25: [1700.444] ah yeah S28: [1701.124] in Saudi Arabia it's the first highest S26: [1703.374] really? S28: [1704.064] cancer, the colon cancer yes S25: [1706.317] it's weird when you look at it i remember learning, in undergrad, like, i can't remember exactly but i think it's like the highest instances of stomach cancer is in Japan, and it's got to be due to all the salt content of fish, and that kind of thing like but whereas, they don't have any, i mean for example colon cancer because at the same time, they're eating lots of fish. do you know what i mean? so their diet's really healthy but it's actually kind of [ high in] yeah uhuh soya yeah exactly that‘s it it. it's really high in salt as well S28: [1718.966] oh yeah [1726.057] yes yes S5: [1726.502] [? no] S28: [1728.534] soya also S5: [1729.242] [?] yeah i S28: [1732.535] yeah S5: [1733.152] but then what, what is happening examine the fish they, they like to eat the fish, ah not very well cooked S25: [1738.232] mhum S28: [1740.549] umm S25: [1741.069] yeah yeah S5: [1741.860] and there is one bacteria. [?] S28: [1744.830] mhum S27: [1744.995] ahh S5: [1745.418] yes. go to the S28: [1747.344] increase the fat S5: [1747.725] [?]. yeah and increase the risk S25: [1748.297] mhum [1750.224] so is that right? oh so that's explains the fact that in S5: [1751.367] yeah S28: [1753.399] sushi : [1753.930] [group laugh] S7: [1756.257] yeah yeah S26: [1759.559] ? questions [laughter] S31_T4: [1759.559] moving on to questions S27: [1761.731] [?] genetic counselling S25: [1764.015] yeah S7: [1764.693] yeah S26: [1764.736] yeah S25: [1765.277] because they must have different prognoses. prognoses? [re pronouncing the plural] prognosi? : [1771.638] [group laughter] S26: [1772.108] it's [?] S7: [1774.495] can you help us? [to observer] : [1775.596] [Oberver: not really]` S25: [1776.075] [??] prognosi or? : [1780.581] [O/C prognoses S25: [1780.937] [laughs] S29: [1781.911] prognosis S27: [1784.899] i think there is no plural. there's no plural S25: [1791.770] i don't know S27: [1792.024] prognosis with different people S7: [1792.024] prognosis S26: [1794.391] do you think part of it will someone's going to have to do the pedigree S29: [1798.179] yeah that's i think er linked with genetic cancer S25: [1799.391] stick that in S26: [1800.280] there's a whole [?] S25: [1802.422] i know S26: [1802.761] maybe someone could do that and along side, S25: [1804.230] yeah S26: [1804.230] [?] do tests S29: [1805.360] what about : [1805.446] [overlpas not all audible] S26: [1805.890] yeah just stick genetic cancer down S28: [1806.017] yeah we would S27: [1806.843] [??] down S25: [1811.542] em, (3) what else ? S28: [1816.539] do you know which [?] S25: [1819.460] so S7: [1820.032] we should [? higher] S29: [1820.032] genetic testing S25: [1821.072] presumably if we decide on genetic tests that, we, think are suitable, we request the tests from L and M and they tell us what the results of the test or they just whether that's the right test to do? S31_T4: [1833.563] no they will give you the results if you ask for the right test S27: [1838.102] ah so then they will do [?] S31_T4: [1838.207] you've got you've got to be able to justify, the test that you are asking for. think of it kind of, if you were in the NHS S25: [1846.505] uhum, yeah S31_T4: [1847.956] you know is it going to be a really expensive test you're asking for is it a cheap test S25: [1851.884] do they have this kind of negotiating?? S31_T4: [1853.540] who are you testing ? that sort of thing S25: [1854.639] mhum S27: [1855.762] so someone has to find it first the, Amsterdam rules and various cancers, three types S25: [1860.335] yep S27: [1861.445] and then ask for the eh, the tests S25: [1862.240] type of test [1864.103] yeah S27: [1865.174] and then someone has to do the [?cancer/counselling] you know the tests S5: [1869.860] after the results S27: [1870.559] after the results S29: [1870.813] [??] S25: [1873.143] what the same person do you mean? S5: [1874.684] not the same but i mean S25: [1876.073] oh yeah it's the order we have to do it in yeah yeah S5: [1876.254] whatever the order the [?] sequence was S25: [1881.081] em S28: [1882.287] what about treatment? no treatment needed? S5: [1886.708] or the follow up S27: [1887.495] management S28: [1888.545] hum? S5: [1889.385] follow up S28: [1889.385] [?] my big brother he had the colon cancer, two years ago, he's a pharmacist he studied er pharmacology in Strathclyde two years ago. and he discovered the colon cancer and here here in Glasgow. when he was er, (2) going to toilet and with faeces there is blood. then he didn't say anything oh ok it's normal when he go back to Saudi Arabia he discover that it's colon cancer, but it was in early, stages so they do a radio therapy, and ehm, they changed the way, from they put ehm, a what do you call this? S27: [1889.844] management S5: [1892.130] because, colon cancer is eh, possibly to treat, especially, in early the stages S25: [1900.342] [??] [1905.074] [laughs] S5: [1920.954] yeah S7: [1930.762] stages S5: [1931.080] stages S25: [1931.319] yeah [1938.446] umm S27: [1942.320] an extra S28: [1942.892] er. plastic. when he got the faeces stuff [gesturing] and ah S26: [1948.375] a colostomy a colostomy bag ? or something S28: [1950.089] yeah. and then they when it's, ready and they take out the tumour they, connect it again. it's ok now yeah S25: [1957.684] is he alright? S5: [1958.911] oh. and how was, how long was S28: [1959.589] but he need to do check up every six months. er he's, thirty two S26: [1961.049] how old is he? [1965.876] is that quite young ? S29: [1966.765] yeah S5: [1967.301] it's young S26: [1967.654] it's young is it? S28: [1967.781] uhuh. yeah S26: [1968.954] S27: [1969.675] he should've been tested maybe, he has a genetic predisposition S28: [1972.850] uhum [1973.612] [some laughter] S25: [1974.355] that affects you though yeah S28: [1975.708] yeah that's S25: [1976.279] kind of thinking all the time like, but then at least you know if that was the case, at least you know that, if if you had the same thing you'd catch it early enough then it's pretty [?] . oh it's horrible though what a thought S28: [1985.677] uhuh [1988.730] it's only one symptom the blood with the faeces or there is another symptoms? S26: [1993.272] i think if like you can get maybe pain but no one would ever think oh that's cancer [?] of the stomach S25: [1996.725] yeah S28: [1996.795] yeah S29: [1996.859] yes S25: [1997.938] it's probably [?] maybe more like, symptoms but it's not for the normal person to see you know you can't see inside so it's like S26: [2002.193] and i think things like blood in, when you go to the toilet it's something it's probably quite a late symptom as well is it? it wouldn't be something you get straight away you wouldn't kind of S5: [2007.356] yeah S25: [2010.163] yeah and it develops you know like, to some extent S5: [2012.775] well also if sometimes you cannot see the blood no and you have to S26: [2013.643] you get sometimes S28: [2016.362] uhuh yes [2017.962] cos you just flush the, toilet S5: [2020.062] ah : [2020.133] [laughter] S25: [2020.311] not yet S28: [2021.581] don't look down S26: [2022.407] yes it's only a tiny bit of blood you wouldn't see it would you? S5: [2024.867] [?] you are not S29: [2025.455] or just made a mess : [2026.955] [laughter] S27: [2030.556] please help to draw it S5: [2032.486] no no no S28: [2033.034] but i think after this increasing of environmental factors and the food junk food, we need to check in the toilet S26: [2033.277] no S5: [2035.433] i'm [?sure] [2038.178] yeah : [2040.410] [laughter] S25: [2042.192] well especially in that say if you do have family history as well you're going to be more, observant S27: [2042.763] yeah S28: [2046.637] [? huh ] yes. S26: [2048.628] that's wrong [pointing to clock] S27: [2049.495] [??] S25: [2050.320] do you think we've missed, [??] [overlap] S26: [2051.711] i don't know if [?] [??] have i written everything down S7: [2058.843] S31? S31_T4: [2059.754] no you've pretty much covered it all you need to do is a report. that's all you [?] report [??] : [2060.636] [laughter] S26: [2064.058] a report? S25: [2066.224] oh for once we get the results S28: [2067.622] oh S26: [2068.644] that's [??] S25: [2070.986] so maybe that one person could do, S29: [2074.390] testing and the report [seems to be following but has said very little] S25: [2076.211] yeah testing and the report. exactly. because S29: [2076.211] S7: [2080.753] he's the one who's asking for the tests. the test also S26: [2083.179] shall i just [??] S25: [2084.669] oh yeah who, yeah. well maybe we should just agree now who we would test first. i'm pretty sure that in lectures if in problem sessions they have told us that the first person you do test is an affected person who'se affected in this case S26: [2084.690] S29: [2097.494] umm yes S25: [2099.273] but who S26: [2100.162] you'd like to go furthest back but he's dead. [points to pedigree] so S25: [2102.583] yeah S27: [2103.004] well S7: [2103.004] yeah S26: [2103.365] we don't know if this is connected. i would say P S27: [2104.335] yeah S25: [2104.805] yeah S29: [2108.216] yeah test p S25: [2108.851] and he's only been diagnosed two weeks ago P so he it should be pretty, relatively easy to, S7: [2110.946] because [?] [2113.195] uhum S26: [2113.550] because at the bottom it says J and, I tell the geneticist they would like to go in for testing but they can't get tested until they know what they're testing for S25: [2119.807] exactly yeah S26: [2120.231] so we need to find out if it's genetic [?] so that S25: [2123.787] so then maybe somebody once we get the test results back so whoever's doing like, i know S27: [2128.741] [? which] test S29: [2130.074] pardon? S25: [2130.571] yeah, yeah exactly or just saying like what do we say to, to J and I, even after we get the test results or, but then i suppose all you say is we test you with the same test. we're looking for this mutation. you know and if you find something S27: [2139.551] yeah S26: [2143.108] if they don't find anything though, do they then test them or do they not bother testing them? S27: [2148.110] well potentially [??] S25: [2148.554] it's test [?] S26: [2150.015] no exactly so they just say we're not having any genetic [?] S27: [2152.492] they then do screeing programme and S26: [2154.714] yeah maybe just screening S25: [2155.603] i think you're right and then if you had something recently which was the same thing you could find a familial mutation, if you're testing for something familial then, if if there's no mutation found yet, then you can't test people, that, aren't S26: [2166.055] do you think they just maybe have, screening more often S25: [2167.643] mhum S27: [2168.405] mhum S5: [2170.310] if they keep [?] maybe we [??] the problem S25: [2174.120] uhuh, exactly in the family. then how can you test other family members for S5: [2176.525] so [2178.589] yeah, one variable for S25: [2179.229] yep [2180.308] and [?] how how specific the test is? like if you pick up, if the test that you do on P picks up on ninety five percent mutations then you don't pick up anything, then you can say that J and I don't have, (3) there's a point five percent chance there's S26: [2195.668] yeah [2197.553] do we need to er em, go home and check the testing before we can come back and decide what tests to, ask for ? S7: [2202.443] yeah S25: [2202.506] i think so S26: [2202.824] so i think we should maybe do that, like tonight or tomorrow and then we'll meet mid week. and then we'll decide what we think's the right thing and then someone like maybe me or you [to s28] S27 check S27: [2204.030] yeah yeah S25: [2206.983] yeah S27: [2212.667] or we can do it on, Moodle S26: [2214.737] yeah S28: [2215.359] ok S27: [2215.715] yeah. you mean if someone finds, today in the test S29: [2220.618] we can discuss on moodle today S26: [2224.111] shall i, start getting some questions S27: [2224.619] do we S25: [2225.762] yeah S28: [2226.570] yeah S27: [2226.778] [??] S25: [2228.487] em what gets S27: [2229.127] on Moodle : [2230.207] eh S26: [2231.414] the same S7: [2232.115] yeah, that's why i told you S26: [2233.700] did you tell me? S7: [2234.405] yeah : [2234.840] [laughter- problem with board] S26: [2236.095] i don't want to cover all that up though. S29: [2239.144] pull it down S26: [2240.053] i i'll just, and i'll leave it up there S27: [2242.713] not really, you can clear it S29: [2244.531] just, just erase that [referring to pictures] S27: [2245.511] erase it : [2247.443] [laughter; referring to drawing by s5] S5: [2248.301] [??] S26: [2248.428] but it's so lovely S7: [2249.317] oh S29: [2249.762] [?] S26: [2251.032] i feel guilty S5: [2251.903] yeah : [2252.703] [laughter] S26: [2253.953] the guilt. (3) [erases visual] maybe you can draw it in your report : [2260.475] [laughter] S5: [2261.015] yeah yeah S25: [2261.333] the [?] S5: [2262.645] it's [?] S26: [2264.952] ok. so S25: [2266.159] so what is the first question S29: [2267.740] family questions S25: [2269.906] hmm. i i really don't know i kind of know the answer but S26: [2273.558] colon. actually that's testing what are the Amsterdam rules? S28: [2274.603] rules S5: [2275.025] [??] S7: [2277.258] yeah i think it must be S25: [2280.318] yeah S29: [2281.207] er do do you have to er, to get the er to to have the endometrial cancer? do you have to take a [?] it S26: [2289.491] i do think we need to look it up if it's connected in some way S29: [2289.491] S25: [2290.087] well i think so yeah [2292.890] yeah S5: [2293.507] then we [?] results and S26: [2293.859] i'm not sure which person will be doing it S25: [2295.484] but i'm not sure if we just find out and i i just don't know if it is connected i'm sure it will say in one of these three, oh females this this is [?] S7: [2296.056] but i [2303.396] yeah that is what S26: [2304.016] you're not that [?] so it would give S25: [2305.730] so if we don't find that out then we can just say really that it's unrelated. so maybe not, then. maybe the people looking at at the cancers should just keep that in mind, look out for it S27: [2318.017] i just think that, if the doctor said that the the cancers match the Amsterdam rules, the endometrial is connected S25: [2325.684] yeah S29: [2326.319] i got it yeah S5: [2326.382] and S25: [2326.742] yeah S26: [2326.827] probably S27: [2327.415] he [? said] only for two cancers . only [?] two cancers . S7: [2327.469] yeah S25: [2328.300] mind you've still got [??] S7: [2328.745] yeah S27: [2331.857] i don't know S25: [2334.451] yeah like present in every, every level. you know something like this it'll be like present in every generation S27: [2340.975] yeah S25: [2341.292] males and females affected S27: [2343.030] it was the young ones had er, a diagnosis for endometrial so it's not [? important] S25: [2347.586] yeah [2349.675] so you think ah yeah [ ? the [??] you'll think that it's definitely, linked S27: [2354.187] i think i don't know S25: [2357.578] so are the Amsterdam rules? (3) ehm, (2) do you think, i i just don't know i think, see the whole, familial question? should you do like, one objective, what what are the genetic causes of these three or, and and then like a second objective, how you'd diagnose blah blah blahor should it be like FAP the causes, the tests, do you know what i mean? S7: [2364.182] go on [2366.087] have S5: [2384.116] yeah i, i think it's best. because if you divide, it's going to be S26: [2386.211] [?] [inaudbile ; overlap] S7: [2389.229] [?] S26: [2389.597] [?] S5: [2390.847] and why is going to talk about you can say about the you know the mutation and maybe is it inherited like, autosomal recessive S25: [2397.896] yeah S26: [2398.437] it would be nice to have a report that's thorough about one thing rather than a report that says a little bit about three [yeah] and that report's a little bit about that three. one report, this is the cancer this is a test for it this S25: [2402.786] yeah S7: [2402.976] yeah S25: [2403.815] uhuh [2406.228] mhum S27: [2408.321] maybe we should [?] S26: [2410.483] mr chair (3) : [2411.616] [laughter] S28: [2414.928] in the first S26: [2415.500] do you think we should do these separate? S28: [2418.103] mhmm [see note in word] S26: [2420.201] [?] split them up? S27: [2421.143] i think yeah S29: [2423.374] yeah separate S28: [2424.073] yes S27: [2425.098] one S26: [2425.380] and we could do them separate S27: [2425.800] the last one [? quarter] S25: [2426.880] [??] to make sense because you're going to get the results so it's going probably to be one of them, and then we'll do the report on that one. for example. S29: [2426.943] and then you know how there's third S26: [2433.992] so [?i] saying them separate but like what is the actual question so the person doing them what are they looking up? S29: [2438.057] well that's S26: [2438.373] can't write [??]. what are the genetic causes of FAP and [?] S7: [2438.489] genetic causes of the FAP and then S28: [2438.674] inherited and then [2441.532] inherited colon cancer S7: [2442.802] tests to diagnose S27: [2443.483] diagnosis first S25: [2444.979] yes what is it S26: [2446.389] what is, i'll do it as one and then i'll just [?], so what is [reading what she is writing] (3) S7: [2449.724] yeah S28: [2454.745] type S29: [2456.106] FAP S26: [2457.793] what S27: [2459.295] main causes S26: [2461.262] so genetic causes ?[S27 nods] when we say what causes it do we mean the actual gene or do you want like all environmental factors do you know what i mean like S29: [2468.335] well if it's, like S26: [2469.667] both? S29: [2470.082] yeah S5: [2470.634] well yeah. that's important S26: [2472.222] oh S25: [2473.535] well if it's familial it's going to be mostly genetic if S5: [2474.127] but if S27: [2475.778] yeah you [??] S5: [2475.778] it can be into most of then it's genetic S29: [2476.159] yeah S25: [2478.858] mhum. and that the probably the environment is what speeds up the second mutation or whatever S7: [2482.573] yeah S27: [2483.335] yeah S26: [2484.902] got all that S25: [2488.108] how do how do you get it ? [watching what is being written] (3) S26: [2491.020] how different (5) S25: [2497.570] and should we put a little bit about prognosis [?] as well [? prognosis] (3) i mean that can be quite short in terms of you know, it's good or bad. good or bad S27: [2506.906] yeah but we know [?] it's eh S26: [2508.609] that could be somewhere in this follow up cancer bit if we need [?] S5: [2510.202] yeah. [2511.530] yeah follow up S25: [2511.657] that's true actually [to S26 point] (5) S26: [2518.071] so is that it yeah? S29: [2520.174] and [?] S7: [2520.563] yeah S25: [2521.530] [??] S26: [2522.008] so time screen. that's [??] [?for/four]. (3) S27: [2528.689] yeah but then, during the prognosis of the [??] S29: [2535.505] they're not [? ill] S27: [2536.268] yeah but the person needs to know everything about ? S26: [2539.371] it's [?] S29: [2539.562] FAP and S25: [2541.530] hmm S5: [2541.784] what the three you mean? S27: [2544.197] yeah if some does possible prognosis for these three, he has three [??]and then that S5: [2547.182] yeah S26: [2550.992] ask a [?question] S27: [2552.525] i think it's better to put it [pointing] S5: [2554.516] you want the prognosis in each one? the whole [?] S25: [2556.892] you could do that because i mean it's going be prognosis is going to depend on, the age of the person like the stage of the cancer like S27: [2563.897] yeah S26: [2564.551] what about inherited, stuff? is that going to go under this too? this looks like it might be quite, large S28: [2567.072] yeah S7: [2569.467] yeah S26: [2569.615] don't you think? S25: [2569.706] yeah [2570.471] i think it is going to be large S26: [2572.141] cos what causes it ? how many tests for it and what is it? is it inherited ? what's the prognosis, treatment S29: [2574.872] yeah [short laught] : [2578.301] [some laughter] S27: [2579.646] why [?] S28: [2580.748] i don't think so S26: [2581.990] no S28: [2582.515] no S29: [2583.021] yeah yeah S26: [2584.461] do you think it can [?]i don't know S25: [2585.541] i'm just not sure, like how are we going to work it S26: [2587.179] shall we separate it out? S29: [2588.567] because i think if you found out the test for each eh, for each one, then er it would be like overlap, between, (2) S25: [2589.197] once [2597.771] yeah S29: [2598.244] should it? S7: [2599.231] i think testing for, the three should be one question S27: [2603.983] yeah but it's not only testing, normal test you have to know, all the mutations that cause it S28: [2604.237] but it [?] S5: [2610.206] types S27: [2611.199] and yeah and you want, those things are [2615.400] [??] S26: [2617.141] [?] S25: [2620.126] yeah [2621.142] and like how do you, how do you, get it all together like, the diagnostic report is going to be S26: [2628.699] that's going to be based on just the test results i think that we get from [?] S25: [2630.858] uhuh S29: [2631.318] yeah S25: [2632.197] so, (4) someone's going to have to wait til Wednesday or whatever to start doing that part S27: [2639.751] that's why i said i think we do today the tests, or tomorrow morning to have the results maybe tomorrow afternoon? S26: [2646.316] cos i mean, we have a micro[?] report that's due in still Tuesday so i'm not going to start it tonight anyway S27: [2646.951] so that yeah S25: [2652.565] mmm S26: [2653.137] to be honest ? what do you think? (3) S27: [2657.746] ok how long will a report, take to do? S29: [2660.327] doubt if it's S26: [2660.614] i think this is going to be the shortest bit . that's the easiest one to do S27: [2660.614] yeah S25: [2664.968] yeah that's true. S7: [2665.286] short yes [?] S26: [2665.581] just use the cytogenetic format S28: [2667.826] yeah of course : [2668.410] [laugh] S26: [2668.461] change the words S27: [2669.015] but write fully S7: [2670.239] yeah S25: [2670.620] mhum S26: [2671.065] [laugh] S25: [2672.157] emm S26: [2672.652] we didn't we didn't kind of, decide S25: [2675.324] yeah S26: [2676.149] shall we see what other questions we have and then S29: [2677.673] yeah genetic counselling and pedigree, i think . [?not many] question S5: [2680.531] can be together S25: [2681.919] that [?again] genetic counsel. yeah S26: [2682.119] what would genetic counselling [?] S29: [2682.419] yeah S27: [2684.375] but then after you test you, S25: [2685.929] you know it's like, S27: [2687.135] it would be done after [?] S28: [2688.025] but genetic counselling S29: [2688.469] counselling yeah S7: [2689.231] yeah S28: [2689.803] [laughs] S25: [2690.283] because we don't know what's wrong S27: [2692.244] yeah that's it so, maybe you S28: [2692.244] uhuh S5: [2694.327] someone do it S28: [2695.047] the S5: [2695.555] but would we found find the results S26: [2696.908] what about [?], maybe someone needs to do the pedigree and then explain who we'd test first and why? S25: [2701.488] yeah S27: [2701.969] i think we don't know [?] [s26 raises eyebrows/questioning expression] (3) S25: [2706.311] yeah if you don't know the test you mean? S27: [2708.059] yeah S5: [2709.001] no but you mean that, they can how they those diseases are inherited S26: [2716.358] so S5: [2716.371] so. no i mean that you know the pedigree for example is autosomal recessive you expect, you know a kind of pedigree ? but this is dominant S25: [2723.293] hm S27: [2725.897] i don't believe that the cancer would be recessive. (2) i'm not sure S26: [2731.485] i think some can but really rare ones it's not a problem S25: [2735.090] and i think, what we've got here it's what we were talking about earlier like two mutations. one's inherited. get [?]. em S26: [2744.914] [??] S25: [2746.251] do you think it would though? [?] i'm just trying to think how we would S26: [2749.271] [?] S27: [2749.842] genetic [?counselling/cancer] i think S26: [2751.239] but what's the genetic counselling person going to say? S25: [2753.795] uhuh S29: [2754.732] same as, er who would be tested first (2) S25: [2759.538] [?] the whole family yeah S26: [2759.576] yeah i think maybe S28: [2761.189] the diagnosis S26: [2762.359] so, do we want someone to actually, do this ? S29: [2766.678] yeah S25: [2768.746] i mean it will take five minutes. really . (2) very very simple S7: [2772.710] yeah i think that maybe we should S29: [2772.710] five minute S25: [2774.457] full pedigree : [2776.166] [laughter] S26: [2776.570] [?] a lot of use. (2) S25: [2780.381] emm S26: [2781.824] and then S27: [2783.226] explain the [?] S26: [2785.017] like testing? S27: [2785.648] yeah S26: [2786.019] testing cascade S25: [2786.541] yep. (3) S26: [2790.046] cos the person that's doing this [refers to diagnostic report] isn't going to S25: [2792.298] well maybe they both [?] S26: [2794.592] if it's just the results of the test. it's not clear who's going to do testing S25: [2797.252] ahha [2799.040] [? it's you] S27: [2799.127] no you just write, that the [?] person who's going to do, (12) [S26 writing] S25: [2813.865] [? text you] [2816.356] em S26: [2816.700] ok so we've done this, S25: [2818.373] yeah tick them off, just so we can, you know just make sure we've included everything we said S26: [2818.945] perhaps the bowel cancer [2823.691] [? perhaps ] the bowel cancer? we've kind of done that one S25: [2827.212] yeah we have. yeah S26: [2827.590] [??] [2829.064] we've done the genetic types of bowel cancer S25: [2830.500] uhuh S26: [2832.402] i'll tick S25: [2832.824] yeah : [2834.012] [laughter] S26: [2835.252] how is it diagnosed? that'll be ? S25: [2837.856] how do we test S26: [2840.587] how is it inherited (2) S25: [2843.063] how we [?] S29: [2843.127] A- Amsterdam rules, i think that's [?] S26: [2844.704] is that Amsterdam rules? S27: [2845.984] no S5: [2846.429] it's in [?] one right? S25: [2847.953] yeah S29: [2848.779] i think yeah S7: [2849.160] yeah i i think S28: [2849.541] it's there S27: [2851.827] that's [??] S28: [2851.827] [?] S26: [2853.007] it's not [?] have to S5: [2853.515] what [?] knows S29: [2854.106] yeah just shove it in, with the first question S26: [2856.182] just shove it in there [laughing] S29: [2857.325] yeah : [2857.887] [laughter] S28: [2860.310] this i already, three types of how it's inherited yeah? S25: [2860.754] [??] S26: [2863.485] maybe the person that's doing pedigree can we still need two S25: [2864.617] what, what the, question two three four [?] S28: [2867.411] yeah S5: [2868.427] two three four yeah S25: [2868.731] yeah S28: [2869.253] because it's, here, so S25: [2869.380] yeah [2870.904] i think so S28: [2871.591] kind of inherited S25: [2872.809] mhum S5: [2873.781] yeah the causes S26: [2876.365] who will we test first what tests, how is it passed on [? to] the pedigree S27: [2880.557] we will not include in it the counselling. it will be separate S26: [2884.634] i'm just not sure what counselling's going to say. [??] are they the same? [concurrent/overlap; parts inaudible] S25: [2887.353] i'm not sure either [2888.312] [2888.904] yeah. i would really S27: [2890.619] just, explain what's cancer what causes it what S5: [2893.921] and the, proably the [?] S27: [2894.492] [?] [2895.953] yeah and just [?] screening or something. i don't know what S28: [2900.856] this will, go with the first before fo- er, [?] [?damage] S25: [2901.306] or maybe S26: [2903.427] maybe that can go under treatment together? maybe that all, S25: [2907.749] yeah S7: [2907.749] follow up S29: [2908.603] yeah S26: [2909.111] do we need to put this in? S25: [2910.445] and maybe the report? all together i don't know S26: [2913.176] oof S5: [2913.874] yeah that's called [?]. it's [?] S25: [2914.593] [laughs] S26: [2915.337] [?started] S7: [2916.033] [laughs] S5: [2917.966] you mean, genetic counselling and S26: [2918.968] yeah i think counselling with the follow up S28: [2921.190] yes i think so S29: [2921.687] yeah S26: [2922.017] maybe cos i think it like i just find it's quite, it's S25: [2926.222] yeah it's a bit it's just S26: [2926.684] maybe it's just [??] S5: [2927.541] because you have to explain the fifth but [to S25] not for S28: [2927.593] if say a few things to, let them feel ok, the ages : [2929.879] [concurrent S5 to S25 and S26 & S28 to whole group] S25: [2930.387] yeah [to S5] S5: [2931.721] but [?] S25: [2933.134] and what [??] what does it mean the S26: [2934.388] in the counselling will we, explain the inherited as well? (3) S25: [2939.849] yeah S28: [2940.040] [?] S25: [2943.469] i don't know i still S26: [2943.977] don't we don't want to overlap or miss stuff out either S27: [2946.849] so [?] S25: [2948.619] yeah [?] S26: [2950.258] right come on, [?] then we'll draw it S25: [2952.069] ok. em, em (2) S27: [2955.706] [?] S25: [2956.794] help S26: [2958.688] help? S25: [2962.776] well, when we get the diag- whoever does the when we get the test result and whoever's going to do the diagnostic report, then, you can then counsel people, do you know what i mean? like, then you can say, recommendations, for, treatment and counselling S27: [2975.324] yeah S26: [2975.387] mhum [2980.920] i think this should be in different separate objective, follow up i don't [?] S25: [2982.864] yeah no i do i do but i'm like you can't like i think, not that it's going to tie in in terms of the same objective but, (3) like, the the follow up in counselling will be based on what the clinician sees on the report S26: [2995.722] yeah S25: [2996.103] [yeah] do you know what i mean [mm] S7: [2996.413] yeah S26: [2996.738] mhum S29: [2997.190] [?] S26: [2998.065] and what the results are S25: [2999.595] uhuh so the clinician's going look at it and say oh this is what we've got for the family so here's how i'm going to counsel you. do you know what i mean? so S26: [3005.427] is this report going to be just based on like, P or is it going to be like, we tested P and we found this therefore we're going to test you S25: [3011.884] i think so S27: [3013.365] no S26: [3014.063] no? S27: [3014.658] no [3016.730] i think just the important, you take, for example both [?] and you do the test, and you have the results and, you just send the results to the [??] so you [?] S28: [3017.048] i don't think S26: [3025.258] i guess at the bottom of the report they always do [? give] a mini part of it anyway don't they? we recommend S25: [3027.728] uhuh S27: [3028.921] yeah S25: [3029.608] recommend counselling for other family members this is, a dominant, cancer syndrome S27: [3031.271] yeah S26: [3033.618] [?yes] S29: [3034.218] so genetic counselling and follow up in one question? S26: [3037.137] i don't know (2) S25: [3039.815] oh i just don't know S5: [3041.213] [??] S7: [3041.812] until [?] we cannot say one S28: [3042.483] yes S5: [3043.065] yeah S27: [3044.006] we have six so we can put them, in one list and we will have seven we'll have seven questions, we are eight people. [to S26] S28: [3046.356] why not S25: [3050.992] right so S27: [3051.246] [?graphically] S26: [3051.771] we need two more questions basically, and we need to make sure we've got everything in it S27: [3053.151] yeah uhuh S25: [3055.119] but do you think there's any one questions that's either, really big or not that big? do you know what i mean? S27: [3060.311] yeah S26: [3060.547] i think these're all quite big but i think they kind of need to be together. i don't know you can't really separate it so [? i] we're just stuck with it S25: [3062.665] uhuh S27: [3065.904] yes.(2) S25: [3068.635] right ok so S26: [3069.714] so do we want, so we want somebody to report S31_T4: [3070.984] [? i guess] after your report S26: [3073.588] pardon? S27: [3074.216] oh [?] S31_T4: [3074.731] i guess that would be the report. cos S25: [3076.192] ahah S27: [3077.829] [??] : [3078.486] [laughter] S25: [3079.704] ok S31_T4: [3081.391] cos that helps i think S25: [3082.781] [laughs] S26: [3083.324] so maybe two, people S25: [3084.975] so why don't S5: [3085.229] database S25: [3087.388] ah so that's S28: [3087.388] i think the first question like, explaining in general what is eh, colon cancer or bowel cancer or S29: [3094.310] is it a [?] for like, erm, colon S28: [3097.516] with a [?P] S7: [3097.909] F S29: [3098.272] F S5: [3099.200] it's a [?]. reports S29: [3099.263] two reports [3100.610] yeah S25: [3101.146] oh [long] : [3102.521] [some laughter] S25: [3103.404] yes S27: [3104.264] don't put [?the counselling/ cancer] there S5: [3104.264] no just, [?leave it there for] [overlaps; not all clear] S26: [3105.690] so we don't we we test her her to see if it's connected? cos if he's got the mutation like it doesn't prove that he's connected with that [??] S25: [3109.317] yeah [3110.644] yeah that's S29: [3110.707] that situation yeah S25: [3112.104] cos you know you do get [?] mutations [??] to say that [?] got the same cancer anyway S26: [3113.755] exactly S27: [3116.777] and but then if you find the mutation [?in P/you follow up ][s26 changes something on wb]then you test F and the other members? you have to test her S29: [3116.968] yeah so S26: [3123.890] maybe maybe what, we're getting at here is like we, we ask for two separate types of test one F one P two reports come back and the results from that would depend on what S25: [3129.351] i think [3133.134] and i i have S29: [3133.991] [??] something S26: [3134.562] but if it's connected you think oh no, and if it's not then [s25 yes] S25: [3136.813] yeah [3138.200] i think you'll find with P thirty four, i reckon you'll find that one of these cancers, appears younger, and stuff like that and you'll find another one a different one, is related to endometrial cancer as well S26: [3139.008] but yeah [3150.793] yeah maybe S25: [3151.785] that's exactly what i think will happen S26: [3153.778] so do what do we think diagnostic report times two? or not? S27: [3154.382] [??] S29: [3158.160] [??] S26: [3158.191] two separate diagnostic reports ? S7: [3159.686] yeah one for P and one for J S26: [3159.938] for one person [?] is that S29: [3161.271] but for one person S26: [3162.224] for one person or two, two different objectives S29: [3162.848] yeah [3165.118] because not that much in diagnostic report just, should be news and, uses : [3169.833] [group laughs ] S26: [3170.849] that's true [3172.738] i love that. ok so i'll leave it in there so one [? was] testing S28: [3173.072] [? i think maybe it could change ] S25: [3176.674] ok [3177.800] yeah S26: [3178.186] i think it could be two separate ones maybe S25: [3179.645] i think it might but see if you were to like divvy it up like in terms of, two people working on that one objective and they could, they could se- between even though someone else is going to talk about it, on two three and four, like how do you test, like maybe it's the two who do those reports, they could look into the tests we do and e-mail S38_T, get that cos then they're not going to be able to do much until the end of the week anyway or whatever like until they get the results back, ? so doing the diagnostic report maybe they could be responsible for, for this bottom bit , you know S26: [3198.966] mm [3210.914] shall we em, shall we see if we can get two more questions and if we can't, then we'll split this into two S25: [3211.474] no? S27: [3212.681] [??] S29: [3214.903] s27 i'm with you S25: [3217.402] sorry i'm sorry. never mind . it's ok S26: [3219.217] no no no i know what you're saying but shall we see if, we can get two questions if can't then we'll split that in to two reports two different people, if we can get two more questions then one person can do both? it doesn't really matter if person does one or two but, it will be the same it just means, if we can get more questions or not i think S27: [3232.468] i don't know S25: [3234.002] ok so S26: [3234.754] can we get two more questions if not, we might as well be two [??] S25: [3237.458] em what did you say there s28 S28: [3238.056] how many questions here? S26: [3239.308] you were saying em S25: [3240.355] about S26: [3241.069] sort of general bowel cancer but because we're doing the specific ones i don't know if general bowel cancer one would be S25: [3241.330] general [?] uhuh S28: [3245.634] but if we do the general, er background because we're, going to relate it to this case and, pedigree will go there (3) S25: [3256.906] i'm with you S28: [3257.223] yeah? good idea? S25: [3259.709] so. [cough] (2) yeah i think you're right S28: [3263.943] don't know it's up to you. um (4) [3271.310] what are the, er the endometrial cancers ? (2) it it's quite general for the bowel, and colon no? [various looking round] (4) S26: [3284.545] blank S27: [3284.545] i find this question extremely [? difficult] [one or two laugh] S5: [3287.233] which one? what did you say sorry S27: [3288.236] [laughs] S28: [3289.919] just background information about the, this type of cancer S5: [3292.041] endometrial [3294.039] oh, for which S29: [3295.069] so for like, for, S26: [3296.339] for just endometrial S28: [3298.077] endometrial or the three of them ? i don't know S26: [3300.340] i think though if you look it up you're going to end up, oh what bowel cancers i mean like oh it's caused by these genes and you're going, then you're going to end up in that that territory S28: [3304.277] endometrial, but it's [?] S27: [3305.283] yeah but S25: [3308.179] yeah S26: [3308.595] that's what i think S27: [3309.633] i think you don't [??] S5: [3310.881] [?] yeah S26: [3312.964] yeah so do that's why i haven't written it down S25: [3315.298] what S5: [3315.454] yeah the the, the mutations, of those cancers [? it is] anywhere if you looked for more information, maybe [?] it maybe not S7: [3324.230] yeah S5: [3324.357] and find [?], you will, to each one S28: [3324.484] mhum S7: [3324.707] S28: [3327.533] uhuh (2) S26: [3330.715] so is that a question then? [3334.603] so what is it? someone dictate it for me S27: [3339.062] when we say follow up what do we mean ? S25: [3341.453] [??] S26: [3342.103] yeah i've got treatment there but i don't know if that should be treatment S29: [3342.992] [??] [overlap; not audible] S5: [3344.644] yeah it S25: [3345.088] [?yeah] S27: [3345.913] [??] S26: [3346.825] so any different [?should be there?] S28: [3347.882] but i just have treatment S25: [3349.957] yeah S26: [3350.399] that was a [?] (4) S27: [3355.383] so you think then, that's numbers? (3) S26: [3360.890] we still [?] S28: [3361.507] no S27: [3362.899] yeah i think that they're S26: [3366.458] [?] i had [? said] S27: [3368.821] yeah i understand what S5: [3369.444] yeah and [3370.598] this is [?] S28: [3371.425] it's related but, what you going to write for genetic counselling and follow up? it's not a lot of, to write S26: [3376.577] [??] [3380.858] together S5: [3381.213] but but if, yeah well you have to explain i mean what you find in the the test, and, for example the [?] check ups, you know S28: [3390.526] uhuh S26: [3390.577] yeah it will depend on the test results won't it, depend on the test results S28: [3391.287] on the testing S5: [3392.074] yeah S27: [3392.517] yeah exactly [s27 yeah]? it depends on what time S5: [3393.342] and the [? pace of], [? what kind] S27: [3396.003] i think you'll find [?] because we have to find what, screening other things they do [??]. there are a lot of things S5: [3402.237] how [3403.634] yeah (2) S27: [3406.875] [??] S26: [3407.701] S31_T4 do you think we've left anything out? [pointing to list on board] S31_T4: [3410.365] not really S26: [3411.064] you happy we've got it all? S31_T4: [3412.715] for one you're missing [?] S25: [3414.439] i think S26: [3415.192] ah so we get another question or we split that now S31_T4: [3419.447] this is the [?] S26: [3420.521] mmm (2) S25: [3423.307] ehm (3) [3426.484] yeah i think split it into two S29: [3426.646] yeah let's split it S25: [3428.401] [laughs] [3428.911] but S26: [3430.409] but it would be nice if the two diagnostics diagnosis were the same format S29: [3432.454] no for just S25: [3433.800] yeah, yeah S26: [3434.361] as well, and if it's two different people they're probably going to do S25: [3437.293] and it's S29: [3437.371] are we S27: [3438.817] i thought [?] S26: [3439.566] i think ok : [3440.659] [laughs] S29: [3441.611] i thought we were [?] just testing S26: [3444.144] ah testing will be [taps on board at relevant point] S25: [3446.530] what [?] would it be S31_T4: [3449.278] i've got testing here as a separate objective so i don't know if that, actually helps any S25: [3452.181] ahha yeah [3455.729] well actually, we could make another could we not then just take testing out of the equation for two three and four S27: [3462.279] yeah that's what i thought S26: [3463.550] so just what causes it genetically or the genetic basis of it what it is S27: [3465.898] but i think that's one S25: [3467.359] and then S26: [3467.626] and inheritance S25: [3468.833] uhuh S26: [3469.552] and then do testing as a totally separate thing, and it means S7: [3470.738] yeah we could have tests separately S25: [3472.008] we could have it more about cancer syndrome and how it comes about and, uhum S27: [3477.478] so there are some definite causes and in the [?mutations] we split four and someoneelse, one [?] ? the mutation because we cannot test if we do not know the types of mutation S25: [3486.518] that's true S26: [3486.518] i think you can probably read it but then not put it in your report S27: [3486.518] [3489.484] yeah S25: [3490.507] and see when you're reading something out, like say for example Cystic Fibrosis it will say, you know [?] delta five oh eight you know like you just need, to put it down, you don't have to understand what it is [agreement sounds ] S7: [3496.503] yeah [3499.960] mmm [3500.624] [laughs] S25: [3501.357] cos someone else's going to understand, you know? [3506.755] you know but i mean like cos em someone else will say em, someone else will say in there part oh this is what delta five oh eight is [??] : [3507.625] [door opens ] S31_T4: [3508.546] two minutes] S7: [3509.181] yeah S26: [3514.008] but are we how are how are we how do we diagnose, these cancers, all cancers? or just these cancers? or just these cancers. because S25: [3518.453] no i think these S5: [3520.612] or each one S28: [3521.009] uhuh S7: [3521.880] the ages S26: [3523.914] all cancers [laughs] no but i mean like, do yo- like, do we think generic screening- no not screening S29: [3526.262] but if S25: [3530.199] cos i think we might find that some of them will be like the inherited cancers, they'll have, a completely different method i mean sporadic cancer you're not obviously going to go and test [?MLPA] first you know, so it'll be a totally different scenario S27: [3538.102] yeah [3541.342] i think we mean the molecular testing [?] these tests [?] S25: [3544.833] mm : [3545.849] [? we've got to ? step out] [?speaker not clear] S29: [3548.008] so, the eh for colon cancer and the er for endometrial cancer, just take for these two S26: [3556.785] no i'm not saying that S29: [3558.051] testing get, for F and P S25: [3560.698] uhmm oh see what you mean S26: [3563.803] i'm kind of assuming one of these is going to cause the endo one S25: [3566.340] me too S26: [3566.780] and if it doesn't, we totally ignored it S27: [3567.478] yeah and also the [??] S25: [3570.039] well why don't the person who's doing, S29 see i think you're right and if don't know anything about endometrial cancer when you're talking about the objectives you know then then find out about it, testing for it, if it doesn't come up S29: [3571.277] because [?] [3575.976] yeah S26: [3579.025] mm S27: [3580.480] if we don't find anything we can er, discuss the [?] i think we will, find S28: [3587.269] no : [3587.269] [some laughter] S31_T4: [3587.813] remember to relate everything back to the family S25: [3590.421] yeah S7: [3591.007] yeah S25: [3591.471] cos we've not been doing that so much actually have we yeah like this is what you would tell S29 [name in last scenario?] or whoever S26: [3593.766] the last one S31_T4: [3596.906] especially when it comes to like you know the test S29: [3598.761] yes S25: [3599.015] yeah S27: [3599.015] but after we did S25: [3599.947] uhuh S31_T4: [3600.222] that's fine [??] S25: [3601.898] ok S28: [3602.496] that's ok? S26: [3602.952] do we think, can we have another look is this ok? S31_T4: [3605.746] i think you're [?] S7: [3606.174] yeah S25: [3606.593] i think we've got everything down but i'm just not sure as to how like, (2) like, i don't know, do you think it's fair, like in terms of it's fair obviously if one person does all the like looking up the test and stuff because we're all going to and like and we need to do it soonish, S29: [3611.017] yeah S26: [3622.715] i think we should all go S25: [3624.048] we should all, uhuh S26: [3625.382] i think it's, yeah S25: [3626.826] ehm, do you think it would be best to do it i mean it's not going to take that longish, to have a quick look tonight, [S27 nods] cos even though we've got this report to do it might just be like fifteen minutes, out of study time and just, quickly have a look S27: [3637.803] yes S26: [3640.858] i can have a look S25: [3641.626] and then tomorrow, then rather than having to, then be like oh how and then we just get on with it once we get the results back S27: [3649.821] yeah S25: [3649.891] you know rather than waiting, i know we're not going to be doing too much, but rather than wait till like Wednesday to [?] them you know? S27: [3656.779] i think we can all have a look and discuss them all [??] tonight (2) S28: [3663.355] yes S5: [3663.843] yes S28: [3664.671] uhum S26: [3665.086] you know [?] it [?] looks like S27: [3667.008] yeah S26: [3668.917] hopefully we'll come up with the same stuff S27: [3668.917] we [? can't] wait S28: [3670.469] what if somebody [?] S7: [3672.533] questions S29: [3673.547] questions S26: [3674.057] ok S27: [3674.882] i think [?] S26: [3676.731] the first one? S27: [3677.598] or if someone else wants maybe they can [?] S26: [3679.443] maybe i'll use a different coloured pen, for that [to s5 ] S28: [3681.988] can i Amsterdam S27: [3682.936] yeah you want it? S28: [3684.079] i thought S27: [3685.218] take it take it : [3686.104] [laughter] S26: [3687.254] why but hang on, S30's not here, how's this going to work ? S28: [3690.493] ah ok S25: [3691.199] we'll just e-mail her and tell her her objective S26: [3692.620] well she gets what's left over : [3694.285] [laughter] S26: [3695.427] you'll do [?] S27: [3695.995] yeah [?]. [??] my name S26: [3699.336] oh oh can i go [??] S25: [3701.396] oh [3702.377] everyone S5 S5: [3704.317] yeah what i'm going to do S25: [3705.714] em, what em eh can i have two? please? but i'm easy if anyone else happens to want it like i [??] S26: [3711.493] [??] S28: [3713.020] can i do three? S26: [3714.506] they're [??] S25: [3716.841] they're all trying to get in here S7: [3718.562] i'll do five S25: [3719.524] [??]. sitting in here S26: [3719.524] oh [?] [3722.111] who said that? was that you? S28: [3723.309] [?] S29: [3727.319] i'll do seven (3) S25: [3731.899] what did you say? S26: [3733.054] i said oh dear what am i going to ?? : [3735.464] [laughter] S26: [3736.032] oh no [3737.741] who's left? S25: [3738.727] eh S30 and you S26: [3740.731] S30 and me? (2) i don't want to do pedigree S25: [3745.010] em, do you do you have a, electronic copy of the scenario [to S31_T4] S31_T4: [3749.214] eh i can get one yeah S25: [3750.325] to e-mail s30? [??] can e-mail her S29: [3750.960] yes e-mail S31_T4: [3753.055] then i'll e-mail you S26: [3754.008] actually that's better because she's not here to have seen that : [3756.857] [laugh] S25: [3757.056] oh yeah that's true. em [??] we can e-mail her her objective and she can kind of [to S31] and then tomorrow we can chat to her, at least then tonight she can at least know, that's she's not got the hardest objective you know, (2) yeah S31_T4: [3763.374] yeah no problem S26: [3771.645] is that all ok everyone? S25: [3772.373] perfect [3773.287] i think it's a very good em, set of objectives now that we've got it all down S26: [3773.517] i'll em [3776.806] ah i think that covers everything S25: [3777.835] yeah S26: [3778.518] i will take this down and, e-mail it out as my scribe duties [laughter] S25: [3780.833] perfect [3782.166] lovely jubly : [3782.591] [laughter] S31_T4: [3783.320] so this is the last time we'll be in here before the big PBLs, so do you want to have practice doing S25: [3786.548] oh [long] S26: [3786.929] oh S7: [3790.041] yeah [??] S26: [3790.394] that's a good idea we probably should S25: [3792.464] yeah S27: [3793.052] yeah S28: [3793.585] we [?] S27: [3794.254] yeah S5: [3795.049] presentation S26: [3795.539] i say till it gets to friday and then i'll change my mind and i won't do it S31_T4: [3798.830] if if you want to get the practice in S25: [3800.810] yeah i think we should i think personally that we've never done it before so S5: [3803.794] but S7: [3804.120] yeah S28: [3804.430] yeah it's a good idea S5: [3805.319] so we, do the report and [??] S26: [3805.973] oh [3808.474] oh that's a good point guys em, so we we still do reports like normal and then we do a separate power point, rather than you do a power point and a handout as a report and there's not much on there S5: [3809.490] [?bowel] S25: [3813.808] right and then yeah [3816.603] uhuh yeah yeah it's a report S26: [3817.410] is that fair? to make sure everyone does the same thing at least S25: [3819.143] yeah yeah definitely. so a report and then you can hand out, slides if you want [?] as like S26: [3822.890] [to S7 ] some people do PowerPoints and that will just be the report i'm saying we'll just do the report as normal, but if you want to do a PowerPoint that would be a separate thing S7: [3829.903] yeah yeah S26: [3830.856] yeah? just to make sure everyone S31_T4: [3831.681] it doesn't need to be anything fancy just do S26: [3832.682] yeah S25: [3833.523] yeah S26: [3833.777] switch everything [?] so someone does a long report and then someone else just does a powerpoint that's not like really fair is it? S31_T4: [3836.508] because you get some practice in PBL twelve, you've two of you will get to do the presentation S27: [3838.349] when do we [?] S26: [3842.160] i don't want to do it [then aside to S27] S31_T4: [3844.573] [??] get some practice [??] [aside, not all audible] S26: [3844.954] how [?] S25: [3846.826] i want a break : [3848.062] [laughter] S26: [3851.904] yeah write some, can i stay in here? just write this down S25: [3853.398] i really don't i'd much rather talk than S7: [3855.755] me i'd S26: [3856.159] i would much rather S25: [3856.730] than em S26: [3859.969] see i would much rather edit so because like we can S25: [3862.206] oh [??] we're finished : [3865.038] [people waiting at door; door opens] S27: [3866.943] enough S25: [3868.397] tell them we're finished S22 S28: [3868.595] ok S5: [3869.166] no separate [?] S26: [3870.309] guys do we have em, some sort of, a tutorial [??] today ? S25: [3871.516] [??] S28: [3872.722] yeah [? there's ] a tutorial : [3874.371] [laughter] S28: [3874.754] yeah S25: [3875.009] yeah S26: [3875.574] we do? what time is it? : [3878.499] [students packing up] [3879.197] [end of pbl] [3879.959] [last part of wave file- beginning pbl 11 stage 2] PBL 12 stage 1 S37_T5S1: [2.822] this is scary [students looking at example big PBL reports] S1_12_1: [4.800] [? S1] oh don't say that S37_T5_12-1: [5.727] [??] [7.339] it's amazing it's like S1_12_1: [7.767] it's like it's like a thesis S37_T5_12-1: [9.908] when you think [??] by the time you add in your you know your [??] at the back and then your appendix and things like that [??] S1_12_1: [13.022] yeah [to S37_T5] S37_T5_12-1: [23.160] who's scribe today? [24.386]  S37_T5S1: [25.180] [??] given you? S1_12_1: [26.745] no S37_T5_12-1: [27.625] there we are [facilitator handing out scenarios] S37_T5S1: [32.765] [? saying something to S32; inaudible] S37_T5_12-1: [46.516] [??] one S33_12_1: [48.021] yeah Comments 12_1: [48.625] [inaudible background chat] S1_12_1: [58.509] thank you [62.951] [?] i thought that was all scenario [?] it's just what to do [66.869] [laughs] Comments 12_1: [69.367] [?? inaudible background chat] [85.735] [?] S37_T5S1: [87.527] what's this ? [looking at PBL permission forms] [90.062] what are these papers? [93.276] this one [94.093] yeah [96.738] [??] just initial these boxes Comments 12_1: [102.240] [ student to observer questions: do we need [? ]as well?C= no i think friday [C=observer/researcher responding to Q about forms] S37_T5S1: [107.164] oh ok S1_12_1: [111.924] have we decided who's going to be chair? S37_T5S1: [113.907] i can do it S37_T5_12-1: [114.784] [?] we'll come back [??] Comments 12_1: [116.650] students reading scenario [and passing round copy of example 'big PBL' report] S37_T5S1: [240.667] good Lord [243.944] can i see that thing there? [asking for copy of big report to S1] S1_12_1: [245.304] uhum [passes report over] S37_T5S1: [245.736] thanks [255.566] holy [referring to report] [365.740] here you go [passes report to S32] [367.533] check that out S32_12_1: [368.955] are we supposed to read it? S35_12_1: [372.046] yeah S1_12_1: [372.478] yeah S37_T5S1: [372.973] i was just saying ok did you want to check this out? S32_12_1: [401.102] oh my God S37_T5S1: [401.922] yeah it's huge right? S32_12_1: [403.114] it's really [?] it's so huge [412.636] [? ] [reading large report] S1_12_1: [421.187] S34 [??] S37_T5S1: [422.857] er wait i think S32 also said she would are you chairing S32? S32_12_1: [425.577] i thought i was scribing S1_12_1: [425.886] scribing S35_12_1: [425.886] scribe S37_T5S1: [427.122] oh you're scribing? S32_12_1: [427.825] uhum S37_T5S1: [428.476] ok then i'll chair, ok [432.309] did you guys read? S35_12_1: [433.180] yep S36_12_1: [433.180] yeah S33_12_1: [433.793] yeah S37_T5S1: [434.223] ok S33_12_1: [434.925] [??] S37_T5S1: [436.457] yeah i'm also [?] S32_12_1: [438.330] yeah [443.066] oh my God i can't believe this [446.889] i haven't seen anything like this before [some laughter] S37_T5S1: [455.606] [? i think i'll just erase] the board S32_12_1: [457.422] yeah [gets up goes to board] [463.600] do we have a duster? [to S1 about cleaning board] S1_12_1: [469.044] there's spare chalk [?] S32_12_1: [471.417] ok S37_T5S1: [485.226] ok are you guys through? S1_12_1: [486.709] yep ready to go S37_T5S1: [487.921] do you want, to take a look through the, (2) [?][? sheet?] yeah i want to see that thing you, S33 did you see those giant PBLs? S33_12_1: [496.207] no i didn't see it S37_T5S1: [497.384] oh ok S33_12_1: [497.688] [??] S32_12_1: [498.420] i don't understand what are lip pits? S37_T5S1: [500.132] i also don't understand what lip pits are either S1_12_1: [500.525] i don't know what lip pits are i'm afraid S32_12_1: [504.094] i don't know [? this] S37_T5S1: [505.385] ok we should that should probably be our first point of action as we don't know what that is Comments 12_1: [507.032] [laughter] S1_12_1: [509.771] [? we could get one] S35_12_1: [509.771] [??] S37_T5S1: [510.858] was there was there anything else that anyone that was for me that was the only thing but were there any other words or anything S1_12_1: [514.916] [??] S35_12_1: [514.916] [??] S32_12_1: [516.969] second premolars or the stuff that S37_T5S1: [519.442] sorry? [referring to S36 not S32 question] S33_12_1: [519.442] [??] S36_12_1: [520.184] anti abortion groups S37_T5S1: [522.817] anti abortion group? S36_12_1: [523.583] yeah S37_T5S1: [524.226] as in they don't believe in termination of pregnancy S1_12_1: [525.598] yeah S36_12_1: [526.402] yeah S33_12_1: [527.515] so they are disagree or no? S37_T5S1: [529.351] yeah they don't yeah they disagree with abortion and S32 what were you saying? S33_12_1: [529.855] right S32_12_1: [532.373] the second premolars? S1_12_1: [533.811] it's just a set of your teeth S32_12_1: [535.859] ok S1_12_1: [537.185] so it's ehm S37_T5S1: [537.706] i think it's like these ones [ fingers in mouth to show] these ? S1_12_1: [539.260] [?] there S37_T5S1: [540.201] yeah it's up there S1_12_1: [541.115] it's the ones between your incisors and premolars so it's these [?] S33_12_1: [541.115] which ones? S37_T5S1: [543.588] yeah S32_12_1: [545.133] premolars S37_T5S1: [545.690] well yeah after these big sharp ones and then before the really flat ones S33_12_1: [549.642] yes [550.058] how does bilateral cleft S1_12_1: [550.433] [?] up there S37_T5S1: [553.675] em a bilateral cleft would [?imply] bilateral means on both sides S1_12_1: [557.240] yeah S37_T5S1: [557.853] so i think uhm she has cleft lip and palate on both sides of her mouth S1_12_1: [559.496] yes S33_12_1: [561.916] palate [?] S1_12_1: [563.218] palate is the, so use your tongue top bit in your mouth roof of your mouth is your palate S33_12_1: [567.440] yeah S1_12_1: [567.835] you've got a hard palate and the soft palate is the bit at the back S33_12_1: [569.899] yeah [570.740] but if they were S1_12_1: [570.988] so basically it's just it doesn't form straight through to underneath your [??] S37_T5S1: [572.904] [?] [to S32?] S1_12_1: [578.900] yeah S37_T5S1: [579.148] yeah S1_12_1: [579.429] but cleft lips are really common S33_12_1: [582.435] yeah S1_12_1: [582.630] which is why initially they were given ehm low recurrence risk S37_T5S1: [586.577] uhum [587.999] is there anything else? S1_12_1: [590.348] but cleft lip can just be you know just your lip or it could be [? involved ] in the hard palate or the hard and soft palate S33_12_1: [596.839] ok S32_12_1: [597.551] palate is the one that they say which is the palate i don't [?] S1_12_1: [600.171] the palate is the roof of your mouth [to S32 mainly] S32_12_1: [601.099] the roof of the mouth S1_12_1: [602.046] yeah and it has two bits so the kind of the bit that hangs down that is the soft palate S32_12_1: [602.582] ok [604.499] is there like a [606.109] cleft lip and palate they mean, it's S1_12_1: [608.764] it's they mean, both S32_12_1: [610.296] ok S1_12_1: [610.866] but you can just have a cleft lip S32_12_1: [612.844] right S36_12_1: [613.833] lip pits what does it mean lip pits? S37_T5S1: [616.103] lip pits we no one knows what that means S1_12_1: [618.522] no [it's?] S35_12_1: [619.450] i have it here on Wikipedia but it doesn't say anything [referring to smart phone screen] S37_T5S1: [622.500] what Comments 12_1: [622.630] [group laughs] S37_T5S1: [623.633] what does it -what do you mean? S35_12_1: [624.689] midline sinus of the upper lip, cutaneous condition that are divided into three types based on their location commissural upper lip lower lip, but there's no pictures here S37_T5S1: [633.366] that's too bad Comments 12_1: [634.059] [group laugh] S37_T5S1: [635.282] Wiki let us down S33_12_1: [637.446] what about assured? S37_T5S1: [639.236] assured? like if i keep telling you it's going to be ok i've given you assurance S33_12_1: [640.444] [?] [to S34 while she explains] [643.844] ah assurance ok S37_T5_12-1: [644.963] look at the picture, of the father S36_12_1: [648.048] yeah S32_12_1: [649.469] i can't see anything clearly from the picture S37_T5S1: [651.163] yeah oh ok [? it looks ?] has two dents in his lips S36_12_1: [651.163] i think there's [654.580] yeah S37_T5S1: [654.995] see there? S36_12_1: [655.342] i see it S37_T5S1: [656.146] yeah [657.382] see those two dents in his lip there [?i think] that's a lip pit S32_12_1: [657.382] oh S36_12_1: [659.731] i think [?] S37_T5S1: [663.441] yeah S36_12_1: [664.037] oh S37_T5S1: [665.088] i don't and oh you can see it in the daughter too see it in the daughter too S32_12_1: [666.695] yep yeah the daughter too yeah S37_T5S1: [669.362] which you can see also the cleft lip there too S32_12_1: [671.984] [?] cleft lip pits S37_T5S1: [673.248] ok cool S1_12_1: [674.108] if it's just cutaneous how bad a problem is it? if it's just involving your skin S35_12_1: [678.255] well i think it's indicative of something else S37_T5S1: [680.606] that's kind of yeah that's what they were implying here that it's indicative of a syndrome i think S32_12_1: [683.801] uhum S37_T5S1: [684.790] ok so did you want to go ahead with main issues everyone is clear on everything? S1_12_1: [686.891] yes ok S32_12_1: [687.324] ok S37_T5S1: [687.881] ok S32 [690.044] let's get some stuff up on the board S32_12_1: [692.335] so the main issue would be cleft lip? or lip pit or what? S37_T5S1: [695.817] oh i think lip lip pits is an a main issue S1_12_1: [698.693] yeah S32_12_1: [699.373] yeah S37_T5S1: [701.532] and then also bilateral cleft lip and palate S36_12_1: [703.762] yeah Comments 12_1: [704.636] [scribe writing on board] S33_12_1: [710.501] ahm there's also what about empiric risk what does it mean empiric? S1_12_1: [714.581] it from experience S33_12_1: [715.693] from experience S1_12_1: [716.373] so it's based on cases that've been identified S33_12_1: [719.080] oh S36_12_1: [722.986] what does empiric [??] S1_12_1: [725.521] it means the same S36_12_1: [727.050] is it [?] S1_12_1: [727.499] yeah S36_12_1: [727.789] [?] S1_12_1: [727.944] but cytogenetics is generally spec- specifically with the specific chromosome change, what risk what's there S37_T5S1: [734.596] yeah S1_12_1: [735.068] this is a more general, risk of, lip palate bilateral cleft lip and palate S36_12_1: [738.131] yeah S37_T5S1: [742.606] when he says when he says this was he looked up in a genetic textbook and gave them one in fifty based on being a multifactorial condition and empiric risk what's the multifactorial condition about a cleft lip and palate [?] S1_12_1: [751.511] meaning there's more than one S32_12_1: [752.748] more than one condition S1_12_1: [753.633] cos it could just be environmental it's not necessarily, it's not it's not a single disease single gene [?] S37_T5S1: [753.984] oh that has it? S32_12_1: [755.032] yeah S37_T5S1: [756.157] oh ok S32_12_1: [758.764] gene S37_T5S1: [759.607] so you're saying there's many different causes of a cleft lip and palate S1_12_1: [760.831] yeah, normally S32_12_1: [761.149] yeah [762.226] anything could you know actually many causes, there are S1_12_1: [764.277] yeah [to S32] S37_T5S1: [765.390] ok i understand [?] S1_12_1: [766.118] [? pathways] S37_T5S1: [768.126] ok so then based on that he just gave them a one in fifty of S1_12_1: [770.722] yeah S32_12_1: [771.203] yeah S37_T5S1: [771.543] of an empiric risk of how often the cleft lip and palate appeared bilaterally S1_12_1: [774.617] yeah [775.318] [??] S37_T5S1: [776.048] ok. so maybe we should put up, just a little -some genetic causes of cleft lip and palate like, what are some of the multifactorial causes S36_12_1: [783.577] [?] we narrow the causes for example, [?] S37_T5S1: [788.078] yeah like what S36_12_1: [788.595] chromosomes abnormalities for example and [?] S1_12_1: [789.982] yeah actually S32_12_1: [791.355] you have like a lot of causes S37_T5S1: [792.890] yeah there's a lot of them but we should maybe, (2) really relevant genetic causes S1_12_1: [798.215] [laughs] S36_12_1: [798.402] yeah S1_12_1: [799.190] i suppose it comes down to what they find specifically with especially it's linked to the lip pits S37_T5S1: [803.446] yeah S1_12_1: [804.373] in the data base S37_T5S1: [805.437] yeah S36_12_1: [806.136] ok S1_12_1: [807.048] so using databases S37_T5S1: [808.638] yeah S1_12_1: [808.902] to identify syndromes S37_T5S1: [810.757] yeah S36_12_1: [811.128] do you think it's too [?] you can find syndrome with this particular just because if the lip pits and bilateral S37_T5S1: [818.539] oh i'm sure you're going to get a lot of syndromes probably S36_12_1: [820.717] yeah but how can the narr- the narrow this syndrome S33_12_1: [823.192] yes S37_T5S1: [823.757] how do we narrow it down? well we look at the pedigree and we can look at inheritance patterns maybe S36_12_1: [828.990] i think [? from the pedigree] particularly then the inheritance pattern dominate S32_12_1: [832.088] yeah S37_T5S1: [832.570] it looks [? an awful lot] to me too S32_12_1: [833.445] yeah [??] S1_12_1: [833.880] and i think lip pits are a fairly rare feature S37_T5S1: [837.273] yeah S1_12_1: [837.863] i've not heard i've never heard of them S37_T5S1: [838.491] yeah i've never heard of them before in my life. ok so maybe put on er, maybe just make a note not it's maybe not a main issue but, can we have it looks like we have autosomal dominant inheritance but we can look at the inheritance pattern S32_12_1: [839.531] yeah S37_T5_12-1: [850.904] [??] S33_12_1: [853.146] [? ] [think about] ethical problems about abortion S37_T5S1: [856.484] yeah that's a really good idea. (2) ah it's a main issue sure S32_12_1: [860.750] abortion right? S1_12_1: [861.877] yeah S33_12_1: [862.542] abortion and ethical [??] S1_12_1: [866.028] i suppose that comes under genetic counselling S37_T5S1: [868.264] yeah S1_12_1: [868.928] cos you want to give them the information now, presuming that that would be something they'd want to consider S32_12_1: [875.424] uhmm S37_T5S1: [875.807] oh [? what are] missing second premolars, there's another feature we can put in there S32_12_1: [878.343] yeah [?] [886.682] oh this chalk it sucks. (4) ok S36_12_1: [894.342] er i think, screening test S33_12_1: [898.608] for what S37_T5S1: [899.040] screening test for what? S36_12_1: [900.703] it said eh the last the last sentence of the paragraph two S33_12_1: [904.622] mm S36_12_1: [905.132] eh the dentist said to them, they would get [? permission ?] to make their choice about any tests in pregnancies S1_12_1: [914.155] this is not, this isn't screening S35_12_1: [915.919] no S37_T5S1: [916.205] yeah it's not screening but i think it's just testing, S32_12_1: [918.267] testing S37_T5S1: [918.507] like what kind of test they're going to do on it. yeah what kind of tests would you do? you could do S32_12_1: [919.804] yeah S1_12_1: [923.676] it depends on the syndrome S32_12_1: [923.926] [?] [concurrent with S34 in audible] S37_T5S1: [924.488] yeah depends on the syndrome you test cos you S32_12_1: [926.362] first i need to, you need to look at the databases like S37_T5S1: [928.860] yeah and figure out what the tests S32_12_1: [930.012] [?] the [?] and then you will go ahead S37_T5S1: [933.365] yeah S32_12_1: [933.508] i think maybe [??] abnormalities related to that syndrome S33_12_1: [933.990] [??] [concurrent speaking to S1; inaudible] S1_12_1: [935.878] [? ] explain maybe? S37_T5S1: [937.988] yeah ultrasound maybe is the [?] S33_12_1: [939.413] [??] S32_12_1: [940.485] ultrasound? S37_T5S1: [941.110] they could could they see it on ultrasound? S33_12_1: [941.543] [??][overlap; inaudible] S32_12_1: [943.828] i don't know i don't think so S36_12_1: [945.758] [??] ultrasound S1_12_1: [946.298] i think [947.796] well they have [? picked up] cleft palate S37_T5S1: [948.212] [?] [949.171] yes cos you could pick up cleft lip and palate they're trying to P and D S33_12_1: [952.620] [?cleft?] we [??] the dentists and the dentists are always with X-ray to see [?] something S1_12_1: [959.644] that's for the baby [??] S37_T5S1: [960.739] we're talking S35_12_1: [961.105] [?] S37_T5S1: [961.488] yeah for the baby S36_12_1: [962.148] [?] S32_12_1: [962.284] shall we give testing options there i mean S1_12_1: [963.687] yeah S37_T5S1: [963.902] yeah yeah for sure testing testing's an issue S1_12_1: [968.046] cos if there's only the only way to pick something up would be, once the baby once the pregnancy's continued if there's not a specific abnormality that would then be a thing to S37_T5S1: [971.432] i think testing [976.740] yeah. exactly. maybe through ultrasound or? molecular testing whatever it is we have to do S1_12_1: [982.891] yeah S37_T5S1: [983.916] right cos it's testing we' have to figure out how to test the members of the family and also prenatal testing S1_12_1: [990.630] cos if there is a specific abnormality like a chromosomal one, could protection do ehm S37_T5S1: [995.614] like amnio or CVS or S1_12_1: [996.985] oh i'm thinking PGD S37_T5S1: [998.828] oh ok S33_12_1: [1000.922] what [?] S1_12_1: [1001.172] if that's if they were definitely well against abortion S36_12_1: [1001.776] [?] [1003.108] and what about the risk with [? they happen] about one in fifty just [??] from where they get this S37_T5S1: [1004.028] abortion yeah S33_12_1: [1012.306] from report S36_12_1: [1013.743] yeah just he say S37_T5S1: [1016.044] that's what, that's what they observed S36_12_1: [1016.044] yeah just he said one in fiftid one in fifty [1017.303] that is, correct or not? S1_12_1: [1019.926] that would be correct for cleft pal- cleft palate in general, but not for this specfic type of S37_T5S1: [1022.549] yeah S32_12_1: [1026.384] this Online Medelian Inheritance in Man is another database?? S37_T5S1: [1029.514] yeah OMIM S32_12_1: [1029.514] S1_12_1: [1029.992] OMIN S32_12_1: [1030.910] oh right S33_12_1: [1031.527] OMIM S1_12_1: [1032.288] it's basically everything, that or if [?] S37_T5S1: [1033.365] do we get databases up there S1_12_1: [1035.051] yeah S32_12_1: [1035.480] yeah we [?] S33_12_1: [1036.346] [??][speaks very quietly] S32_12_1: [1038.938] did we cover everything? S33_12_1: [1039.673] [? how] about, abortion S32_12_1: [1040.672] abortion tests and pregnancy, they're up S36_12_1: [1043.358] testing [?] S37_T5S1: [1044.870] i think we have most S1_12_1: [1045.245] shall we start brainstorming? S37_T5S1: [1046.244] yeah i think we have most of it, yeah S33_12_1: [1048.055] [??] S32_12_1: [1050.429] what is that any tests in pregnancy any action taken afterwards S37_T5S1: [1054.301] sorry? S32_12_1: [1055.257] the, after the any tests in pregnancy i mean S1_12_1: [1058.048] that's what S33 just saying, genetic counselling S32_12_1: [1061.324] counselling S1_12_1: [1062.551] [?] S33_12_1: [1062.551] [??] would be S37_T5S1: [1063.342] yeah [1065.933] oh we do have, oh we've got genetic causes yeah counselling [? as well] should be up there S1_12_1: [1072.002] especially if there's [?] dysmorphology might not be, er, might not know the genetic causes of the syndrome [? if] we can find there is a syndrome S37_T5S1: [1078.486] yeah S33_12_1: [1086.402] uhm is there any [?] something about anti abortion group er, somebody can talk about this group what is there S1_12_1: [1094.267] we've got, shall we move on to the brainstorming then we can discuss everything [?] cos that one's up S37_T5S1: [1099.256] yeah i think we have most of the main issues up we can S32_12_1: [1100.678] yeah, we covered everything [?] S37_T5S1: [1102.119] yeah. unless anyone else had anything to add? no? [1105.929] ok S33_12_1: [1105.941] maybe how about anti abortion group as, a topic S37_T5S1: [1110.738] uhm i think it's a little out of scope personally, i don't know what do you guys think? S1_12_1: [1112.674] yeah S35_12_1: [1115.420] i think [??] [agreeing with S34] S32_12_1: [1116.766] yeah S37_T5S1: [1117.108] ok. i think the general consensus is that it's a bit out of scope S33_12_1: [1119.684] ok S37_T5S1: [1120.795] cos we only get so many pages on S1_12_1: [1122.504] uhum S37_T5S1: [1125.055] ok, let's brainstorm S32_12_1: [1127.274] ok the main will be S1_12_1: [1128.932] isn't it just dysmorphology S36_12_1: [1130.177] dysmorphology S33_12_1: [1130.819] dysmorphology S1_12_1: [1131.697] [laughs] [1135.860] that covers S32_12_1: [1137.697] ok S37_T5S1: [1138.198] yeah we can go from there S1_12_1: [1139.249] uhum S32_12_1: [1143.555] then we have lip pits S37_T5S1: [1146.163] [laugh] S33_12_1: [1146.365] what about the can we include the pedigree? S36_12_1: [1148.744] [??] S37_T5S1: [1150.211] uhm yeah the pedigree will probably go in with the genetic counselling S32_12_1: [1153.485] ok lip pits and cleft lips everything will go round [?] S1_12_1: [1156.209] yeah S37_T5S1: [1156.733] yeah cleft lip and palate, then em missing, second premolars [1166.675] is there any difference between a bilateral? there is right? make sure it's bilateral cleft lip. that way we don't go down the wrong path by accident S35_12_1: [1175.680] yeah S32_12_1: [1178.616] cleft palate and S37_T5S1: [1179.284] and then missing second premolars S1_12_1: [1188.609] it's got S33_12_1: [1189.109] genetic causes and, other [? causes environmental] why you get it S1_12_1: [1195.304] it is quite interesting this one cos it's the dentist that actually refers them to the [?] S37_T5S1: [1198.177] yeah S32_12_1: [1198.658] yeah S37_T5S1: [1200.840] and databases, can go up dysmorphology S33_12_1: [1209.367] [?] testing do we know [? the ?] maybe? S32_12_1: [1212.615] inheritance patterns where are we supposed to put S1_12_1: [1215.738] [?]with causes S36_12_1: [1215.800] [?] S37_T5S1: [1217.531] yeah, S32 S33_12_1: [1218.361] [?] i think [??] S37_T5S1: [1220.047] yeah put it under causes and then S1_12_1: [1221.849] there's different causes, there might not be an inheritance pattern [?] multifactorial, cos it might just be, too many factors to have a S37_T5S1: [1230.803] yeah S1_12_1: [1231.052] [?] inheritance S37_T5S1: [1232.739] we could try, (2) we should look at genetics like either cytogenetic causes or molecular genetic causes S32_12_1: [1239.663] should abortion be in or not? i mean issues in abortion [addressing S34] S37_T5S1: [1243.994] yeah put it up we can [?] ethical issues off, off there S33_12_1: [1244.056] or [?] S32_12_1: [1256.048] ok S37_T5S1: [1256.617] good is there for dysmorphology is there really any environmental causes i guess like S1_12_1: [1260.920] there's loads S37_T5S1: [1261.901] really like what? like [? neurogens ] and like S1_12_1: [1262.597] yeah [1263.994] well cos it, dysmorphology is general it could be lots of different things S32_12_1: [1266.992] like even the stuff you take [??] cleft lip and palate you know what i mean? S37_T5S1: [1268.241] ok but like S1_12_1: [1269.492] dysmorphology can S37_T5S1: [1272.676] really? S1_12_1: [1273.205] dysmophology is a spectrum so it could be, some in some people something that's normal, it could be a syndrome could be seen as abnormal like as D was saying like the number of [?] creases and so it's, S32_12_1: [1273.588] yeah S37_T5S1: [1283.250] yeah [1285.230] ok S32_12_1: [1285.265] mhum S37_T5S1: [1286.375] so then, let's split causes into environmental and then genetic yeah S1_12_1: [1289.705] genetic S33_12_1: [1297.493] so that mean if -if it is ah not genetic, there is no, test for that or, if it's genetic S37_T5S1: [1303.659] oh if it's not genetic i guess we like she's [?only going to ] research if we could ask if they were taking any, drugs or de- depending on environmental causes or if they live next to a nuclear power station or something S32_12_1: [1312.224] well [?] i think [?multi causes [?] anyway and S36_12_1: [1313.217] but [?] screening S1_12_1: [1314.587] yeah i think Comments 12_1: [1314.587] [concurrent- parts inaudible] S37_T5S1: [1317.058] i mean yeah S32_12_1: [1317.358] so you cannot say S37_T5S1: [1318.759] no i yeah (3)i think that there will definitely be, i think we'll get something obviously S32_12_1: [1325.854] yeah S37_T5S1: [1326.816] well we'll see S33_12_1: [1328.076] but also S36_12_1: [1328.608] [?] S33_12_1: [1329.513] just [?] S37_T5S1: [1332.034] i wonder if it's penet- i wonder if this is a penetrance thing S33_12_1: [1335.062] [?] S1_12_1: [1336.133] it looks pretty penetrant S32_12_1: [1337.133] yeah it looks pretty bad S37_T5S1: [1337.944] yeah but the lip pits look penetrant but, [?] think about it because, like we're saying the lip pits there's nothing, you know [?it's [not] like] you're going to have lip pit syndrome like maybe you have some gene like why in this baby, she has both of them together, do you know what i mean? S32_12_1: [1351.079] both of them together [??] S37_T5S1: [1352.814] yeah she's a cleft lip palate and the S35_12_1: [1354.134] well the cleft lip could be associated with [? pregnancy] S32_12_1: [1356.635] yeah S35_12_1: [1357.209] [? on ] the mom's side S1_12_1: [1358.010] yeah so the cleft, lip could be S32_12_1: [1360.900] yeah S35_12_1: [1360.954] yeah S37_T5S1: [1361.352] ok S1_12_1: [1361.352] so is it associated or is it something that's just happened S37_T5S1: [1364.442] yeah that's what i i guess that's what i'm getting at is that like cos they're saying here that the risk, they've unusual to have two rare conditions in one child and it might be part of a syndrome S1_12_1: [1366.503] [?] [1371.996] mmm S37_T5S1: [1372.310] but if it's part of a syndrome in the child, it would be non syndromic and off the family tree like S32_12_1: [1377.191] yeah i think S1_12_1: [1377.625] or or reducing it so it's not S37_T5S1: [1378.877] yeah that's, that's what i'm trying to say S1_12_1: [1381.345] so there's some sort of predisposition S37_T5S1: [1382.710] yeah [? some thing may ] modifying her genes or something like this because, if say you get we put it in the database and we get some, genetic some gene mutation S36_12_1: [1391.008] yeah S37_T5S1: [1391.507] we get a gene mutation we test these people they all have the mutation but why does she have both? so that's something to think about i don't know how to summarise that into a bubble S36_12_1: [1398.743] we we should, er consider about the abnormal, chromosomal abnormalities S37_T5S1: [1405.072] yeah i that, that's under causes, are there even you could S32_12_1: [1405.979] that's under causes S36_12_1: [1408.757] ah not separate it? not under the causes because i think just S37_T5S1: [1412.879] hum? S36_12_1: [1413.339] should be S37_T5S1: [1413.878] what? S1_12_1: [1414.322] that would be the cause though S37_T5S1: [1415.327] it would be the cause of it S36_12_1: [1416.452] ok S32_12_1: [1417.014] no [? when ] we're putting in questions [?] based on the [?] S36_12_1: [1419.262] yeah i S37_T5S1: [1420.261] ok i guess so you're what you're saying S36 is that you'd like to split genetic causes into chromosome abnormalities and molecular abnormalities, ok fair enough we can do that S36_12_1: [1425.133] yeah S32_12_1: [1427.756] ok so [? shall i just do it] S37_T5S1: [1429.505] [?] [concurrent with S1 inaudible both directing S32/scribe to somthing on board/layout] S1_12_1: [1429.505] well you don't S32_12_1: [1431.941] chromosomal S1_12_1: [1432.787] yeah S37_T5S1: [1433.188] just under yeah just divide genetic causes into, cytogentics and molecular genetics essentially S32_12_1: [1438.701] ok. we'll do it when we're [?writing] S37_T5S1: [1439.950] yeah yeah [1441.427] but that that's what you were trying to say ? [to S36] S36_12_1: [1443.069] yeah S37_T5S1: [1443.572] ok sorry S32_12_1: [1445.071] ok S37_T5S1: [1447.939] uhm, what were we talking before that we should talk about something about pe- penetrance and syndromes S35_12_1: [1452.623] but i think that will have to do with causes environmental and genetic though S37_T5S1: [1455.789] not necessarily because it could be S35_12_1: [1456.578] [?]causes [1458.439] [? well ] it falls under one of those S37_T5S1: [1459.966] kind of but, i don't know, because i guess what i'm trying to say is what what make this syndrome versus like we, we you know? like in her they're saying she might have a syndrome but these people, do they have the same syndrome or why if they have the same syndrome do they have different features? S1_12_1: [1471.695] but some syndrome's you don't have to have all the the, phenotypic features of the syndrome to have the syndrome S37_T5S1: [1474.693] yeah S32_12_1: [1475.255] yeah S37_T5S1: [1476.317] ok so maybe, we i don't know anything about syndromes so maybe, we can talk [laugh] just talk about what S36_12_1: [1481.375] what [?] cause the syndrome? S1_12_1: [1483.624] it's- i suppose it depends on what S32_12_1: [1484.748] [? talk for that right i mean ] having the same kind of [?] [addresses S34] S37_T5S1: [1488.193] yeah it was about it was like phenocopies and modified genes and stuff, but no phenocopy's the other way phenocopy's where you have the same wait the same gene no the same phenotypes but different genes S32_12_1: [1490.691] yeah phenocopying and [?] S36_12_1: [1496.847] no not the [?] different S37_T5S1: [1498.935] yeah ok S36_12_1: [1499.497] no not S32_12_1: [1499.560] [?is that] what they say or S36_12_1: [1501.721] for example just to have phenotype without the, the [?] genes or mutations S37_T5S1: [1506.879] i think that's penetrance and variability S32_12_1: [1508.372] yeah penetrance and variable expressions S37_T5S1: [1510.745] expression S32_12_1: [1511.438] yeah [1511.910] although we need [?] S37_T5S1: [1512.863] [?] syndromes S32_12_1: [1513.436] [laugh] S37_T5S1: [1515.310] we can check it just to, just to see S32_12_1: [1516.372] yeah [1517.695] are we missing out anything else? er termination S1_12_1: [1520.254] er counselling, probably [?] S37_T5S1: [1521.619] yeah [1524.875] and did we get testing? S1_12_1: [1525.152] [?] S32_12_1: [1526.314] yeah S36_12_1: [1526.687] yeah S37_T5S1: [1527.082] testing the, what kind of testing? maybe brainstorm about what kind of testing we can do, i guess it will depend based on what we get on the database but generally S32_12_1: [1530.902] yeah [1536.398] yeah S36_12_1: [1537.844] i think it is hard to decide S37_T5S1: [1538.656] i think what S1 said PGD, can go up there especially because they're anti abortion S1_12_1: [1543.216] or is it [? worth] PGD S37_T5S1: [1544.652] yeah like what we can look into like i don't know just things to look into S32_12_1: [1546.963] PGD ultrasound? S37_T5S1: [1548.150] yeah PGD ultrasound, er have you kept mentioning chromosome i think maybe chromosomes S32_12_1: [1552.709] karyotyping? S36_12_1: [1553.896] yeah S37_T5S1: [1554.024] yeah karyotyping, what other kinds just just to have a list so when we s- we have somewhere something to go off of S1_12_1: [1557.961] yeah S36_12_1: [1560.147] yeah S33_12_1: [1560.335] ok S37_T5S1: [1560.755] anyone? ideas? [1563.348] any ideas? S1_12_1: [1563.672] i suppose if you do find a specific molecular cause S32_12_1: [1564.759] by molecular which chromosome we find and [?] mutations S37_T5S1: [1567.617] yeah just like we said yeah S36_12_1: [1567.617] yeah S32_12_1: [1568.372] [?] mutations, do we just put molecular stuff S1_12_1: [1571.003] yeah just put molecular stuff S37_T5S1: [1572.319] [laugh] S1_12_1: [1572.319] [laugh] S36_12_1: [1572.319] [laugh] S1_12_1: [1574.621] there's no point listing every molecular [? step] S37_T5S1: [1576.599] yeah because we've no idea what it is but, something like that S32_12_1: [1579.826] ok Comments 12_1: [1584.159] [? someone inaudible] S37_T5S1: [1585.861] is there anything else that S1_12_1: [1587.217] i suppose the counselling is quite important in this family S32_12_1: [1589.700] yeah S37_T5S1: [1589.942] yeah completely S33_12_1: [1590.431] what about [?] S32_12_1: [1590.905] what about termination and everything S1_12_1: [1592.527] we should have [??] S33_12_1: [1593.377] after the genetic counselling? i don't know of the [?] talk about genetic, geneticist they are advise, the couple terminate? S1_12_1: [1603.755] no they would never do that. they would just give them the options S37_T5S1: [1604.567] oh yeah no S32_12_1: [1606.441] offer yeah just say S1_12_1: [1607.627] and tell them what the risks are S37_T5S1: [1609.805] ok so maybe we should put options and risks, under counselling just just to be specific S1_12_1: [1614.448] you'd never tell someone what to do, that would be highly unethical S33_12_1: [1615.636] [? to S1] [1618.445] uhum S37_T5S1: [1620.722] erm what else would counselling be based on? do you think S1_12_1: [1624.384] whether it's something that is how it's going to affect any future children S37_T5S1: [1628.509] yeah S1_12_1: [1628.821] yeah. cos this doesn't say there's any, apart from having a cleft lip and cleft palate which are both repairable S32_12_1: [1634.236] yeah S1_12_1: [1634.485] and the lip pits, are there any actual S37_T5S1: [1636.482] yeah S32_12_1: [1636.482] shall we talk about treatments and stuff i mean treatments because that's correction of the surgery [?and stuff] [directs to S34] S33_12_1: [1636.864] [?] S37_T5S1: [1640.202] yeah oh good yeah good idea S1_12_1: [1642.700] cos both of those are you can treat them quite easily with surgery so it's something you should be testing for S36_12_1: [1646.010] yeah S32_12_1: [1647.259] [? ?] nowadays S37_T5S1: [1649.321] yeah ok treatments is a good idea and then i think i agree with you i agree with you definitely S1_12_1: [1653.507] is is there something S37_T5S1: [1654.754] does it yeah is it worth them doing PND or PGD or, how do S1_12_1: [1655.321] that needs to be tested for [1658.937] especially if they are not happy with S33_12_1: [1660.230] [?] do you think the, what do you call it the [?surgery] S1_12_1: [1664.567] yeah S33_12_1: [1664.868] plastic surgery? S1_12_1: [1666.052] uhum S37_T5S1: [1666.258] yeah i think it is surgically repairable we should still talk about it for a complete PBL S32_12_1: [1669.960] yeah we need to S37_T5S1: [1671.553] and then uhm, can you throw up what S1 was saying S32? S1_12_1: [1675.564] is it worth testing for if it doesn't have a severe enough phenotype S32_12_1: [1675.564] [?] S37_T5S1: [1679.869] yeah ok S1_12_1: [1680.267] and even if it's treatable, so probably between testing and treatment S32_12_1: [1680.392] where? [to put on board] S37_T5S1: [1683.121] yeah somewhere in between S32_12_1: [1684.126] i'll put it here? S37_T5S1: [1684.941] yeah S1_12_1: [1685.326] because there might be some other phenotype that we don't know about like mental retardation or something like that S36_12_1: [1689.724] yeah S37_T5S1: [1690.000] yeah or if yeah well like i completely agree but if it's something that can be surgically repaired why would you S1_12_1: [1694.757] some cleft lip, has other involvement S37_T5S1: [1698.098] uhuhm S1_12_1: [1698.449] em S37_T5S1: [1700.315] yeah S1_12_1: [1701.115] skull [?], but i don't think that's most cleft lip S37_T5S1: [1703.825] but look at the baby is there anything else that looks strange about this baby? S36_12_1: [1707.785] i think it's eh, it has difficulty breathing S1_12_1: [1709.554] i think the S37_T5S1: [1711.519] like anything else we could put S35_12_1: [1714.693] not from this photo S37_T5S1: [1715.941] yeah it's hard to tell from the photo but [?] would you say it's cheeks look chubby or am i just being overly S32_12_1: [1715.941] yeah [?] picture or something S1_12_1: [1721.201] it's difficult to tell because it's kind of pulling a face S32_12_1: [1721.515] yeah it's it's S37_T5S1: [1722.773] yeah S32_12_1: [1723.201] yeah, it looks like that [S1 S34 S32] S1_12_1: [1725.221] so maybe have ehm divide it [?] are there any other dysmorphic features that the clinician the geneticist might want to look for other dysmorphic features S37_T5S1: [1726.729] it's kind of look like the [gesturing to face to demonstrate] S32_12_1: [1728.641] yeah S37_T5S1: [1732.845] oh ok S36_12_1: [1733.572] yeah yeah yeah S1_12_1: [1734.699] cos i think, the forehead looks quite narrow S36_12_1: [1738.167] yeah and also it's [?] S37_T5S1: [1738.634] yeah [1740.822] and what about the cheeks? [to S32 but overlap inaduible] S32_12_1: [1742.125] yeah [??] [to S34 but overlap inaduible] S37_T5S1: [1743.692] yeah the cheeks are [?] yeah S33_12_1: [1746.565] also the father i think [?] his lips S37_T5S1: [1749.812] yeah those are lip pits S36_12_1: [1750.645] yeah yeah lip pits S32_12_1: [1754.378] but er would we have to research on that i mean based on the picture S37_T5S1: [1757.010] well it's not a bad idea because if we if we put these things in and get nothing it's not a bad idea to have some other like whoever's doing the database we could brainstorm some other things to maybe try to include to see if we can get anything? S32_12_1: [1759.303] yeah S37_T5S1: [1767.940] so that sounds sensible S32_12_1: [1767.993] yeah S37_T5S1: [1769.648] [short laugh] S32_12_1: [1769.648] yeah S1_12_1: [1769.873] if we were trained genetic clinicians we'd have to think of it S37_T5S1: [1774.201] oh do you want to just list a couple that we had just in case they [?] on the database cos if cos if we go away and someone puts it in a database and we get nothing then that's [?] like ah so S32_12_1: [1776.636] yeah [1777.848] yeah [?or S1] [1779.947] yeah it's yeah totally [1782.175] we're going to have [?] S1_12_1: [1783.819] full cheeks S37_T5S1: [1784.825] yeah S32_12_1: [1785.353] full cheeks ok S37_T5S1: [1785.880] do you want to throw them up there S32? just i mean just in case S32_12_1: [1788.799] no yeah i mean S1_12_1: [1790.441] i agree S32_12_1: [1791.950] full cheeks then S36_12_1: [1793.369] full cheeks S1_12_1: [1793.472] she does have quite a small forehead S32_12_1: [1794.721] er, narrow i mean forehead? S1_12_1: [1797.009] yeah S32_12_1: [1797.071] what is that? a small one? S1_12_1: [1799.624] narrow forehead S32_12_1: [1800.268] narrow or? S35_12_1: [1800.993] i think that's S1_12_1: [1801.068] i'm not sure what you mean S35_12_1: [1801.866] i think she's got a a wide nose but that might be associated with the cleft lip palate S32_12_1: [1805.465] well you can't say that see that from the, from the angle i think anyway so S37_T5S1: [1809.270] but her nose does look wider than both of the parents' noses S35_12_1: [1812.249] yeah sure Comments 12_1: [1813.236] [group laughter] S35_12_1: [1814.404] yeah [? that's right] S37_T5S1: [1815.203] no i'm serious. i i i don't dis- i agree- i don't disagree with you S35_12_1: [1816.883] [?noses] S1_12_1: [1819.135] it just p- [unfinished] S35_12_1: [1819.135] i mean it could be associated with [?] S1_12_1: [1820.494] well put put everything up S37_T5S1: [1822.184] yeah i agree i would i think we should put everything and then S32_12_1: [1825.112] er narrow forehead S1_12_1: [1825.705] cos it might not be she's got a narrow forehead she might have wide cheeks S37_T5S1: [1828.982] yeah S1_12_1: [1828.982] S35_12_1: [1829.704] uhum S37_T5S1: [1830.317] well we can just put it there just S1_12_1: [1831.697] she's got quite low set ears S32_12_1: [1832.808] narrow forehead S37_T5S1: [1833.401] i also agree that the ears are low set S32_12_1: [1834.263] yeah low set low set ears yeah S1_12_1: [1836.256] and they're quite small, but it's difficult to tell where her hair is cos the [? rest of the background is black ] but Comments 12_1: [1840.574] [laughter] S32_12_1: [1842.149] oh my God we're getting so good at it S36_12_1: [1842.199] i think the [?] S37_T5S1: [1845.231] no it's not clear but i mean just it that way there's, rather than having S36_12_1: [1847.135] that's just [?inaudible] S32_12_1: [1848.203] i [? would say ] i think yeah the ears are really low set in this case i mean S37_T5S1: [1851.123] yeah S1_12_1: [1853.250] cos they're right down by where her ehm S32_12_1: [1854.549] yeah S37_T5S1: [1856.242] no i agree. well at least now we have some other things to go off so that way if we don't put it in the obvious ones we get like. S32_12_1: [1861.905] that's true S37_T5S1: [1862.585] you know or if we get a billion we can try putting these in to see if it, gives us anywhere i think it's a good idea. is everyone happy with the brainstorming session S32_12_1: [1864.632] yeah S35_12_1: [1871.220] yeah S32_12_1: [1871.220] anything else we need to include besides S36_12_1: [1871.220] yeah S37_T5_12-1: [1872.725] could i just say ehm, remembering you're all [you know] geneticists not clinicians, in the first paragraph we're talking about the multifactorial conditions and empiric risk, might that not be a learning objective? S32_12_1: [1887.707] empirical risk you're talking? yeah that's what i was just coming to say before she started off, i was just thinking that Comments 12_1: [1891.707] group laughter] S37_T5_12-1: [1892.826] i know you'll probably bring that in [?] other things but so [?] you might want to [?bring that it] S32_12_1: [1893.825] yeah i mean [1894.375] the [??] S1_12_1: [1898.136] so how you're going to deal with multifactorial conditions S37_T5_12-1: [1900.291] just want you to you know S32_12_1: [1901.315] yeah what kind of S37_T5_12-1: [1901.726] [?] S32_12_1: [1902.328] but risks did we put it somewhere? risk factors? S37_T5S1: [1905.388] we had it off of counselling S1_12_1: [1906.003] counselling but maybe just off the, just put how do you deal with multifactorial conditions S36_12_1: [1907.135] yeah S32_12_1: [1910.704] where [?] counselling or where do i need to put it [?] i put a new one S37_T5S1: [1912.308] er S37_T5_12-1: [1913.925] put it in the S1_12_1: [1915.326] yeah S37_T5_12-1: [1915.541] cos it it stands on it's own S37_T5S1: [1919.851] ok calculating risk for multifactorial conditions Comments 12_1: [1919.851] scribe writing on boards S37_T5_12-1: [1926.715] [?] S1_12_1: [1928.702] yeah S37_T5_12-1: [1929.114] [?][?clinical] [? ?] S32_12_1: [1936.552] ok S37_T5S1: [1937.522] ok so are we all set then S33_12_1: [1939.462] yeah S1_12_1: [1939.961] questions S37_T5S1: [1940.328] that seems good to me. ok let's make some questions S1_12_1: [1944.689] shall we do that [?] first then S32_12_1: [1945.301] shall i clear this off? S33_12_1: [1946.571] yeah S1_12_1: [1947.026] yeah S32_12_1: [1947.488] ok S1_12_1: [1948.643] is that the multifactorial S37_T5S1: [1950.037] sure S32_12_1: [1952.534] i think it's [?inside ] there already S37_T5S1: [1953.834] yeah we got everything in there S1_12_1: [1953.834] yeah Comments 12_1: [1954.947] [scribe clears part of board] S32_12_1: [1966.371] ok cool S37_T5S1: [1967.286] ok so er calculating, er risk for multifactorial conditions Comments 12_1: [1972.072] [scribe writes questions on board as they come up] S32_12_1: [1987.821] ok S37_T5S1: [1990.139] do you guys want to just go into a circle and everyone kind of contribute a questions? S1_12_1: [1993.413] yeah S33_12_1: [1993.640] ok S37_T5S1: [1994.154] ok [indicates to S35 to start but then S33 starts] S33_12_1: [1995.045] ah, the dysmorphology feature and the S32_12_1: [2000.215] the features? S33_12_1: [2001.602] features yes, all these features that [?] S1_12_1: [2005.427] what you need a question though S36_12_1: [2005.988] database [2006.972] database S35_12_1: [2008.175] databases and [?] features S36_12_1: [2009.091] databases and features S37_T5S1: [2011.570] what what is the question S1_12_1: [2013.025] we need to ask a question cos otherwise it's just a bit, random S35_12_1: [2017.066] yeah [? i think] S1_12_1: [2017.551] so how you'd use databases within these S32_12_1: [2018.952] how would you use the database S1_12_1: [2021.663] how would you use the databases so you [?] dysmorphologies S32_12_1: [2022.863] so to [??] S33_12_1: [2025.742] [?] depend on the database what are what is the er, the outcome, maybe S32_12_1: [2025.838] dysmorphological features [2031.546] should we be like ah, would it be more like a [?] session saying how would you go ahead and search for the database saying you know how would you use S1_12_1: [2038.681] yeah that might be S33_12_1: [2039.306] [?]yeah S32_12_1: [2039.667] like do we need to do that? S33_12_1: [2040.258] [?] S35_12_1: [2040.787] i think S37_T5S1: [2040.976] yeah make it how would you use the databases in this diagnosis in this case S32_12_1: [2043.438] yeah i mean like how would you, select like which are the important features and then for how would you S1_12_1: [2048.396] so how would you use databases to find syndromes for dysmorphologies, is that kind of S37_T5S1: [2053.445] in this case S33_12_1: [2053.767] do we S1_12_1: [2054.306] yeah S32_12_1: [2054.746] yeah S36_12_1: [2055.560] yeah S33_12_1: [2056.159] do we have to do this each [?] database or only one database? S37_T5S1: [2059.856] i think em S1_12_1: [2061.376] both S37_T5S1: [2061.893] what's going to happen depending is it like the last situation where we're going to find more information as we go right? S1_12_1: [2067.716] yes S37_T5S1: [2068.147] so i think that, when we meet we can maybe redefine some of these things depending on like this'll be we'll do this preliminarily? S1_12_1: [2075.585] yes someone of them'll be bigger [?things] S37_T5S1: [2077.309] yeah depending on what we depending on we end up getting from the database S1_12_1: [2079.184] all the [?questions?] it will come out from the search of dys- dysmorphology database S37_T5S1: [2083.722] yeah i completely agree so i think we can just do this so we have something kind of as a starting point and then when we meet again we can put everything more [?] freely S1_12_1: [2091.500] and it i think it's e- OMIM i don't think it's a search for, fea- for it could be like for dysmorphology features so, you'd have to use the dysmorphology database to find a syndrome and then search the syndrome you can't S37_T5S1: [2096.720] yeah [2101.518] and then try [2102.917] yeah S32_12_1: [2103.308] [? and then?] [2105.020] oh i'm sorry go ahead [interrupting S1] S1_12_1: [2105.499] no i'm finished S32_12_1: [2107.043] no i just started on the next thing i was going to, the causes right? er for the S33_12_1: [2111.166] yeah the causes right S37_T5S1: [2112.391] yeah S1_12_1: [2112.667] yeah S32_12_1: [2114.449] do we need to form like a question or something or just S37_T5S1: [2116.255] yeah just what are the causes of er S32_12_1: [2117.171] what [?] S1_12_1: [2118.200] it just makes it easier, then you kind of know what you're looking for why where what S37_T5S1: [2123.045] what are the causes of dysmor- of the observed dysmoprh- dysmorphic features or something like that S32_12_1: [2126.934] i'll put genetic and environmental? S37_T5S1: [2128.795] yeah S1_12_1: [2129.905] cos there might be specific things for the lip pits S37_T5S1: [2131.821] yeah S32_12_1: [2132.341] [?] S1_12_1: [2133.428] there's loads for cleft palate you could probably write a book on cleft palate S32_12_1: [2136.877] i know [?] S1_12_1: [2138.655] there are probably books on cleft palate S32_12_1: [2140.910] and environmental er inheritance patterns [? are we supposed ?] and chromosome, abnormalities S37_T5S1: [2148.758] i think you can just leave the question as genetic and environmental and then whoever's doing that question can kind of, copy down from there the more specific details S32_12_1: [2152.812] ok S33_12_1: [2155.398] [??] S1_12_1: [2159.332] pardon? S33_12_1: [2160.287] could it be possible to be related to [? with? ] also? [2164.088] S1_12_1: [2164.482] yes but that would probably come under the one of the genetic things S33_12_1: [2166.572] one of S37_T5S1: [2167.542] yeah S33_12_1: [2167.920] yeah S32_12_1: [2169.679] ok S37_T5S1: [2170.711] how do you use databases [referring to notes] Comments 12_1: [2170.711] [students checking notes to ensure points covered in questions] S33_12_1: [2171.530] [?] database S37_T5S1: [2172.794] S32_12_1: [2173.201] databases, er ethical issues abortion S33_12_1: [2175.492] abortion yeah S37_T5S1: [2176.404] yeah S1_12_1: [2176.775] so shall i then put that in counselling? S35_12_1: [2178.570] yeah [? that's nice] S32_12_1: [2179.431] ok i'll put as counselling and then S1_12_1: [2181.459] how would you counsel this family? S37_T5S1: [2182.488] yeah that's a good question S1_12_1: [2192.540] cos that question will change quite a lot once we know S37_T5S1: [2195.220] yeah we S1_12_1: [2195.768] what doctor M will have found when he looked at [?] S32_12_1: [2198.791] K S1_12_1: [2199.350] when he looked up the database S37_T5S1: [2199.383] K S32_12_1: [2200.611] counselling, and then S1_12_1: [2204.780] in this case S32_12_1: [2211.178] ok then we have what? risk options S37_T5S1: [2215.081] make sure whoever's doing causes is doing for the, er cleft lip and the lip pits and stuff for both S1_12_1: [2220.812] i suppose for the counselling you've got to be aware of ehm, what D was saying S32_12_1: [2224.049] oh the abortion [? also ] comes under counselling? S1_12_1: [2226.420] pardon? S32_12_1: [2227.067] the abortion and er, i mean er issues of abortion comes with the counselling S1_12_1: [2229.708] uhuh S37_T5S1: [2230.352] yeah S1_12_1: [2231.456] you've got to be careful what D was saying last week that just because someone is involved in an anti abortion group doesn't, you can't you still have to give them that option, or because if someone's in a specific religious group you still have to give them all the options cos they might come round to change their minds S37_T5S1: [2237.898] yeah S32_12_1: [2245.709] ok S37_T5S1: [2245.894] uhum S1_12_1: [2246.182] is that [?-co] what in what case that was S37_T5S1: [2247.265] yeah that is what [2249.639] that was for, i think it was for DMD erm, i'm not sure but i do remember him saying that. how to give genetic counselling and [?] S32_12_1: [2258.423] do we need to put treatments as a separate [?stuff] or will we put it in with something else? S1_12_1: [2261.926] i think it'll come S37_T5S1: [2263.801] i think that S32_12_1: [2265.321] probably must be just surgery or something or just S37_T5S1: [2267.807] i don't S1_12_1: [2268.507] yeah S37_T5S1: [2268.935] it depends the thing is that it's going to depend on what it is, if it if if we find something based on these two [?] the treatments going to be huge and there could be a lot of er research into gene therapy we have no idea what we're getting at i mean S36_12_1: [2271.392] yeah [2275.848] yeah [2276.430] yeah S1_12_1: [2276.818] we should just [2278.678] not not assign someone treatments for now but that would be something we have to think about after [?] S37_T5S1: [2282.046] yeah put it as a question and maybe no one will take it now we'll put it as a question because i think it, i think it's really important to have to complete the PBL S33_12_1: [2288.081] yeah S36_12_1: [2290.208] yeah S1_12_1: [2291.099] yeah S33_12_1: [2293.462] [?] for lip pits S32_12_1: [2297.030] i ok S35_12_1: [2299.174] [? sure] S33_12_1: [2301.491] what about testing for molecular [?] S32_12_1: [2306.934] testing what do we, ok S1_12_1: [2308.128] yeah one of the last. (5) ok how could you test for, cleft palate and lip pits S37_T5S1: [2319.256] yeah or whatever or whatever the syndrome is S1_12_1: [2319.420] [?prenatally ] and S37_T5S1: [2321.988] yeah S1_12_1: [2322.461] postnatally [? probably] to give them [?]. because there might not be any prenatal diagnosis necessarily S37_T5S1: [2330.091] to do yeah (2) yeah we need to think what prenatal testing postnatal testing, (2) and we yeah the testing will also change depending on, depending on what's what's identified and, what not S1_12_1: [2342.085] [?]yeah [2345.341] if it's something easy you could pick it up S35_12_1: [2345.487] yeah S37_T5S1: [2346.753] and whoever's doing the genetic counselling can, can they throw in a pedigree so we have, just for completeness S1_12_1: [2351.701] mhuhm S36_12_1: [2353.004] what about if the, first of all, go to the database and discover which is the syndrome and then you're [? by chance] and separate for S37_T5S1: [2361.816] yeah i think that this, i think that S36_12_1: [2362.811] [? do that too] but at now at for example i, i choose one [? but i didn't get any] information about this, syndrome S37_T5S1: [2363.740] [2369.396] yeah it's just preliminary just so we have some idea of what we want to include and then S32_12_1: [2371.066] yeah [?] S1_12_1: [2373.006] we might all go and have a little start reading and around it but not necessarily, start writing or S37_T5S1: [2378.126] yeah that's kind of what i think too is that we can just do it provisionally, and then maybe on Tuesday or Wednesday after everyone's kind of read and done a little research, we can get together again S36_12_1: [2385.276] yeah [2387.485] and then [?divide it up] S37_T5S1: [2388.583] yeah of course divide the questions flesh everything out S1_12_1: [2390.934] so that everyone's got an equal S37_T5S1: [2392.732] yeah so A that the work load's equal and B so that we actually that we know we're writing about the right thing S36_12_1: [2396.731] yeah S1_12_1: [2397.456] uhum S37_T5S1: [2398.426] right so was there S33_12_1: [2399.358] one more question for S36_12_1: [2402.052] but i think the counselling is genetics S37_T5S1: [2405.000] let's see what else do we have let's see if we've got everything [? ignoring S36 point; seems to move on?] S32_12_1: [2407.941] [??][reading list/from notes] S36_12_1: [2407.941] [?] S33_12_1: [2409.663] risk options S36_12_1: [2411.333] risk options and issues S37_T5S1: [2413.386] that's probably under counselling S32_12_1: [2415.710] i think [?] S36_12_1: [2416.059] yeah S37_T5S1: [2416.937] treatments we've got, (2) i think the the testing could be, maybe knocked into, one one of these depending, well i think one of these depending on what we get is going to be quite big, and then whatever's the biggest one we can maybe divide into two questions S32_12_1: [2428.669] yeah [2431.416] yeah we can do that S36_12_1: [2432.195] yeah S37_T5S1: [2433.345] because if er, yeah depending on what we get S36_12_1: [2436.990] mm S1_12_1: [2438.238] is S3 ill or S37_T5S1: [2440.210] i've no idea i haven't heard from her [? in days?] S1_12_1: [2441.881] is she [looks to tutor] S37_T5S1: [2442.474] yeah maybe she's sick S37_T5_12-1: [2442.959] [??] S33_12_1: [2442.983] [? she's sick] S1_12_1: [2444.252] ok so maybe, we maybe, if if we're going to meet on Wednesday maybe S36_12_1: [2449.869] yeah S1_12_1: [2450.018] just do six questions and then see where we are and then divide it back up if she's ill S37_T5S1: [2455.231] ok sure. (2) that works for me S36_12_1: [2458.937] i think the first [?] for every person see what on the database, and discover all syndrome S32_12_1: [2464.300] yeah the database is the first [? place] S36_12_1: [2465.323] and then Wednesday we see evidence of this? and then decide which syndrome and [?] the S32_12_1: [2469.904] but i think if going to like put cleft lip and palate we're going to turn up like, so S37_T5S1: [2474.306] that's why i think if we do some of the other things S32_12_1: [2476.318] yeah S1_12_1: [2476.714] [??] important because lip pits seem to be quite a rare feature, especially if the junior doctor hasn't picked it up but the dentist has S37_T5S1: [2476.751] that we talked about i mean [2479.587] yeah S32_12_1: [2479.678] yeah S37_T5S1: [2480.917] yeah [2484.867] yeah S36_12_1: [2485.319] ok S37_T5S1: [2486.791] so i think uhm, (2) so we're decided that do you guys everyone want to do some general research and then we'll meet on Wednesday and divide up the questions like S36 was saying or did you want to assign questions, just based on what we have everyone researches this, like research their particular area and [?] S32_12_1: [2499.654] yeah we just i we just er S33_12_1: [2501.809] [?] S32_12_1: [2501.871] because if we do it right now, so then after that also we can do research, and stuff[directs to S34] S37_T5S1: [2507.471] ok i think that might be the best thing just especially because we're so busy too that everyone takes, a certain area on Wednesday we meet S1_12_1: [2511.078] yeah [?or S32] S32_12_1: [2511.078] yeah [2513.395] i mean if it's going to be huge for someone else later we can just split it up and [?] S33_12_1: [2518.024] ok S37_T5S1: [2520.698] and then if you want like if you want to check the database, then then check it and then you know if we're interested i'll probably check it too because i'm interested and want to see, but i think that for Wednesday when we meet, we can just have some preliminary research on whatever [? topic] S32_12_1: [2525.602] yeah [2533.649] yeah or else everyone's going to have just a general idea until Wednesday and then afterwards S36_12_1: [2537.118] yeah S37_T5S1: [2537.333] yeah exactly S32_12_1: [2537.441] [?] S37_T5S1: [2538.626] and then if you're interested in somebody else's topic take a look and then, i mean that's always extra right if someone does extra then it's good [? to help them] S32_12_1: [2540.944] yeah [?] S36_12_1: [2545.065] that's [?ok] S37_T5S1: [2545.793] is that ok? S36_12_1: [2546.566] yeah S1_12_1: [2546.797] uhum S37_T5S1: [2547.343] ok so shall we, everyone ready to divide these things up S32_12_1: [2548.328] ok S1_12_1: [2549.675] shall we just take one each cos that's six and [?], then and then split something for S3 when we know exactly where we're are at S37_T5S1: [2552.475] that's what i was S32_12_1: [2552.747] [? i'll show you] one two three [2556.303] [??] S1_12_1: [2558.512] well i think that'll be fine for till Wednesday S32_12_1: [2559.429] yeah but [?] S37_T5S1: [2560.032] yeah provisionally until Wednesday i think so. and then cos on Wednesday we'll have to make another question for S3 S32_12_1: [2565.219] ok S37_T5S1: [2565.559] split whatever's big, this is just preliminary so i think it's ok S32_12_1: [2568.546] right ok S33_12_1: [2569.219] ok S32_12_1: [2569.923] so [?] S33_12_1: [2571.134] [?] i don't know, i didn't do that yet counselling S1_12_1: [2575.982] yeah? S33_12_1: [2576.252] yeah S1_12_1: [2576.700] do you want to do that? S33_12_1: [2577.453] uhum S32_12_1: [2577.976] ok S37_T5S1: [2578.192] ok S36_12_1: [2579.464] give me the [scribe writing; he waits] S32_12_1: [2585.112] ok S36_12_1: [2587.390] second one S1_12_1: [2589.168] databases S36_12_1: [2589.913] yeah S32_12_1: [2590.731] [? what ?] S36_12_1: [2592.104] [?] S35_12_1: [2594.611] [? can i] S36_12_1: [2594.988] i didn't have any information about it S35_12_1: [2597.046] do causes S36_12_1: [2598.878] and [?] S32_12_1: [2600.420] erhm where is it? [searching on board] S1_12_1: [2601.515] there third one S35_12_1: [2601.571] [?]causes [2604.210] that's for the clinically observed features right? S1_12_1: [2607.317] uhuh S32_12_1: [2607.317] yeah S35_12_1: [2608.002] so the three main things S32_12_1: [2609.397] yeah S35_12_1: [2609.857] ok S32_12_1: [2610.320] lip cleft and palate S37_T5S1: [2611.229] and then that the causes could definitely expand depending on what you can find in the database S35_12_1: [2611.229] [?] S1_12_1: [2614.329] yeah S35_12_1: [2615.486] i'll talk to her and find out what's [?] S1_12_1: [2616.779] yeah S37_T5S1: [2617.534] ok S1_12_1: [2617.534] cos cleft palate itself has got different causes S32_12_1: [2619.635] yeah S37_T5S1: [2620.551] yeah there's all i don't even know, yeah don't write anything concretely until we sort it out cos there are a million causes S32_12_1: [2626.102] yeah S36_12_1: [2626.546] just i, i'm wondering can i use the London database at home? S37_T5S1: [2630.374] no S36_12_1: [2631.639] just S32_12_1: [2631.917] you can use it S37_T5S1: [2632.267] just at school S36_12_1: [2633.219] i can use it from home? S1_12_1: [2634.213] no, cos it's a programme S37_T5S1: [2634.758] no it's a thousand pounds, to buy it S1_12_1: [2636.933] a programme rather than internet access S36_12_1: [2637.931] [??] S1_12_1: [2639.494] OMIM you can use it from home but you'd have to look to figure out what syndrome it is before you could look it up on any database S36_12_1: [2645.127] no but still[?] S32_12_1: [2645.836] i heard that D was saying that even on OMIM if you just put the clinical features, and [?] separate it by common [?input], it would you know it it's just function like the London S37_T5S1: [2654.881] really? S32_12_1: [2655.258] yeah that's what [?] cos he was like telling me how to do it and stuff it's just [?] S1_12_1: [2658.757] [??] S37_T5S1: [2659.267] i didn't know that either S32_12_1: [2660.636] yeah S37_T5S1: [2661.959] i didn't realise S1_12_1: [2662.300] but i think dy- London Dysmorphology S32_12_1: [2664.520] yeah is more specific S1_12_1: [2665.809] yeah S32_12_1: [2666.270] yeah but the OMIM you know, comes with really good stuff that's what i heard i don't know S37_T5S1: [2672.629] uhm, anyone mind if i do testing? S1_12_1: [2675.929] no go for it S37_T5S1: [2677.641] or i could do something else i'm not, whatever you guys don't like if you S1_12_1: [2680.543] go for it if that's what you fancy [2682.181] [laughs] Comments 12_1: [2682.234] [laughter] S36_12_1: [2683.346] [?] S1_12_1: [2683.697] unless [?] S37_T5S1: [2685.342] did you want to do testing S32? we always do the same ones? S32_12_1: [2688.680] it's ok S37_T5S1: [2689.463] if you wanted you can switch it S32_12_1: [2690.621] no no that's ok whatever you wish S1_12_1: [2693.261] er shall i do determining risk for multifactorial conditions, i think that's probably going to be quite small, well i don't know S35_12_1: [2701.562] you'll find out S1_12_1: [2702.465] yeah S36_12_1: [2703.044] uhm S32_12_1: [2703.474] ok. so i'm left with what? treatments? S1_12_1: [2705.467] treatments S37_T5S1: [2706.211] but then you've done treatments already before S32_12_1: [2708.137] yeah i think so S1_12_1: [2709.293] do you prefer to do multifactorial, conditions because i don't mind treatments it's S32_12_1: [2713.505] ok S1_12_1: [2714.005] yeah? S37_T5S1: [2716.452] and then whatever the seventh is, for S3 we'll see S32_12_1: [2720.461] yeah let's [? put it up there] S33_12_1: [2721.110] what do you think that, ah one that will be [? used for] objectives S1_12_1: [2724.607] the causes probably S37_T5S1: [2725.900] i think causes might be really big, testing testing could be bigger S36_12_1: [2727.661] and also S1_12_1: [2729.817] or nothing S37_T5S1: [2730.458] or nothing yeah depending on what it is it's either going to be a [?] S1_12_1: [2731.192] depending [2732.993] [?] S36_12_1: [2732.993] also [?] S1_12_1: [2734.130] counselling is quiet large S37_T5S1: [2736.521] yeah that's huge S36_12_1: [2737.309] because S32_12_1: [2737.719] that's nice S36_12_1: [2738.540] there's S1_12_1: [2739.465] there's a lot to consider in this one because you've kind of got no hard and fast answers [? for ] dysmorphology S32_12_1: [2741.672] yeah [? results] S37_T5S1: [2744.315] uhuh S1_12_1: [2745.162] but if we just leave it like that for now and then S32_12_1: [2748.352] who's breaking on the inheritance patterns and stuff for causes S33_12_1: [2751.366] [?] is S37_T5S1: [2753.112] ok S1_12_1: [2754.281] cos if there's an inheritance pattern it'll depend on the specific genetic causes S32_12_1: [2756.970] yeah this is true S37_T5S1: [2757.313] yeah S1_12_1: [2758.022] [2758.460] cos otherwise you won't, get one. erm so are we thinking Wednesday for meeting? or tomorrow? S37_T5S1: [2763.169] yeah S32_12_1: [2763.277] we need to decide on a time too S37_T5S1: [2764.732] we could even, i don't know i'm ok with tomorrow too it doesn't matter to me. basically we should just read i think we should read and come up with some and stuff and sit down again and go over it tomorrow so that there's actually something in each topic S33_12_1: [2766.337] tomorrow S1_12_1: [2774.072] yeah S32_12_1: [2776.856] so i mean actually then read this paper what was it all about [referring to scenario] S1_12_1: [2780.215] it's basically what we have to do S37_T5S1: [2781.489] yeah just gives us instructions on what to what to do S1_12_1: [2783.988] so S32_12_1: [2783.988] we need to like prepare just like the big PBLs S37_T5S1: [2785.668] er yeah [?five] yeah it should be like a big PBL S1_12_1: [2788.578] so basically, ehm three people present and give presentations which are five minutes each and two people will be editors of the whole, whole manuscript S32_12_1: [2797.956] cool S37_T5S1: [2799.088] yeah i think that if you're topic ends up being small then maybe those people can be either presenting or editing or something like that S1_12_1: [2803.830] editing [2805.231] yeah [2806.660] although we want to give presentations on interesting aspects so S37_T5S1: [2809.865] yeah we'll have to sort out too. but just because i mean someone could present someone else's, part S1_12_1: [2814.187] yeah S32_12_1: [2814.646] yeah S37_T5S1: [2815.123] ok that's no problem right? S1_12_1: [2816.499] and so we're thinking tomorrow then? S37_T5S1: [2818.099] yeah S33_12_1: [2818.539] ok S37_T5S1: [2818.993] yeah that way we get an early start on it because it could be big S32_12_1: [2821.479] yeah S35_12_1: [2821.830] ok what time S1_12_1: [2822.755] are we wanting to meet here or are we wanting to go and get a room in the library? S32_12_1: [2827.008] library? S33_12_1: [2828.080] [nods + inaudible] S37_T5S1: [2828.646] er whatever works i S32_12_1: [2829.826] yeah whatever is, ok for everybody S36_12_1: [2831.029] [?] S37_T5S1: [2832.052] i've labs tomorrow from two to four which kind of puts a wrench in everything S33_12_1: [2833.461] what [? inaudible; overlap; talking to S36] S1_12_1: [2834.647] ah ok. ehm [?] S32_12_1: [2837.287] before that er are you are we free in the lunch break or something? S37_T5S1: [2839.848] i'm free between twelve and two S36_12_1: [2840.603] [? ah] i think S33_12_1: [2841.644] [? what is it] we have S37_T5_12-1: [2843.163] you do meet the whole group at the end where you want to practise [? and that] S36_12_1: [2843.269] i think we have got [looking at timetable] S1_12_1: [2846.907] uhum [to S37_T5] [2848.147] uhum [to S37_T5] S37_T5_12-1: [2848.719] [?inaudible] S1_12_1: [2850.464] laughs [to S37_T5]] S37_T5_12-1: [2851.587] [??] S1_12_1: [2852.782] yeah. but i'm meant to be meeting my friend for lunch tomorrow but i can rearrange that, if that's the only time we can all meet S37_T5_12-1: [2858.892] in fact then get in quick for a time, you know go to C [? will make your [?] S1_12_1: [2863.507] we were we were going to go to the library and S37_T5S1: [2865.663] yeah the library's good S37_T5_12-1: [2867.141] no but i was referring to practising [?] S1_12_1: [2868.519] oh practise the presentation ah ok S37_T5_12-1: [2870.685] make, your time S1_12_1: [2871.855] quickly S37_T5_12-1: [2873.916] oh well you're only allowed an hour so this should be fine [?] because it S36_12_1: [2876.171] what time tomorrow because i have lab from one thirty, one thirty and three S1_12_1: [2881.042] how about S32_12_1: [2881.166] do we have lab? S1_12_1: [2882.244] how about late afternoon then S36_12_1: [2882.627] [?] S37_T5S1: [2883.541] i have lab between two and four i can meet at four, i can meet any time after four S1_12_1: [2886.124] meet at four four four thirty [2887.220] four four thirty S32_12_1: [2888.118] ok four thirty shall we meet? S1_12_1: [2889.195] meet in the library? S32_12_1: [2890.013] or five four thirty five, whatever's basically S37_T5S1: [2892.491] four thirty's fine S1_12_1: [2892.914] four thirty S36_12_1: [2893.183] what about between twelve two [?one] S1_12_1: [2896.955] i'm meeting my friend for lunch unfortunately S36_12_1: [2899.150] yeah i mean we have lunch [? and ] i don't know S1_12_1: [2901.223] ok S36_12_1: [2901.277] [? we'll talk?] S1_12_1: [2902.354] yeah four thirty? S37_T5S1: [2904.803] that's ok, is that a problem for you? S33_12_1: [2905.518] ok [?] S36_12_1: [2906.071] [?] S35_12_1: [2906.912] er S1_12_1: [2907.602] it wo- it won't be a it won't be a long meeting S32_12_1: [2909.198] which library? S1_12_1: [2910.247] the main library S32_12_1: [2910.615] the main one S33_12_1: [2910.869] the main library S32_12_1: [2911.701] main library? S1_12_1: [2912.108] up up at [? the main] campus S35_12_1: [2913.617] what what [?] where is this place? S32_12_1: [2913.886] up campus ok S1_12_1: [2915.988] the main library? S35_12_1: [2916.150] i know where the library is but where S37_T5S1: [2917.255] S1 do you mind i just [?] S32_12_1: [2918.333] actually there's a really [?] S1_12_1: [2919.249] i'll book a room and then [?] S32_12_1: [2920.642] meet outside the library S35_12_1: [2922.007] that's what i S1_12_1: [2922.806] we'll meet outside the library at four thirty and then, take everyone up cos the rooms are sometimes in weird places S35_12_1: [2924.530] [?] S32_12_1: [2927.063] yeah S35_12_1: [2927.925] ok S1_12_1: [2928.141] er S37_T5S1: [2928.940] ok so you know when you get there[?] S1_12_1: [2929.775] outside the main library then i'll [?] S32_12_1: [2931.251] yeah [2932.718] it's a nice place S37_T5S1: [2933.480] ok and then we can kind of, do research today sort everything out tomorrow and then S32_12_1: [2937.994] cool S1_12_1: [2938.058] that gives you a bit of time if you don't have a chance to do it this evening S37_T5S1: [2940.321] ok. S32 do you mind when you do the er, post the questions tonight, er can you post them tonight just for S3? S32_12_1: [2946.626] sure S37_T5S1: [2947.065] and then just let her know that we're meeting tomorrow, on Moodle S32_12_1: [2949.268] yeah S37_T5S1: [2949.694] just so she knows to come S32_12_1: [2951.674] yeah S37_T5S1: [2951.732] she knows what S33_12_1: [2951.732] i can tell her also S37_T5S1: [2953.345] oh ok yeah just let her know what's going to happen S32_12_1: [2954.872] you you have her number right? S37_T5S1: [2955.896] and when you let her S32_12_1: [2956.389] ah for this she will not S37_T5S1: [2957.340] [? we know] her name won't appear on the questions so maybe just write her a note saying you know we've not forgotten about you [?] S32_12_1: [2959.481] yeah [2961.231] sure S36_12_1: [2961.231] [?] yeah S37_T5S1: [2963.184] ok so just so it doesn't she doesn't see it and think we've ignored her completely S33_12_1: [2963.332] [?] S1_12_1: [2969.296] ok S33_12_1: [2969.612] [?] S32_12_1: [2969.668] ok is that it? S37_T5S1: [2970.797] happy? S36_12_1: [2971.705] yeah S37_T5S1: [2972.198] ok S36_12_1: [2972.652] ok S37_T5S1: [2973.291] great S36_12_1: [2975.736] so what are you Comments 12_1: [2975.745] [?various overlaps inaudible S36_12_1: [2976.382] oh shit i have to take it down [board work] S37_T5S1: [2978.659] [laughs] ah ha i'm going to take a picture of it [2980.910] let's see [?] [looking in bag for phone/camera] S36_12_1: [2986.034] time? [to S35] S35_12_1: [2986.553] ah two o'clock S37_T5S1: [2989.160] well that's easy enough (2) although i think i'm going to get a lot of glare [?] S37_T5_12-1: [2994.710] [?] and the other thing [?] up to ehm this is give it a [?]