User:Etchevers/Notebook/Conference notes/2008/12/03

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Notes for meeting with Alexis 3-dec-2008

He will establish a chart of what exists in the freezers of the anapath department with respect to age, storage conditions, prefixation, destiny of the sections that the anapath had looked at – did they run any markers with immunohistochemistry on them?

Which if any fixative was applied before freezing?

Are there any paraffin blocks out there?

How many samples per teratoma? Are they hetero- or homogeneous?

Will also check out the 20-odd possibly available from Rennes.

Will start by following Celine in a first attempt at immunohistochemistry. Candice has prepared a list of slides in double – some for HIS and some for ISH. Will need to work with her tomorrow to make sure all is okay. Prefer having one rabbit Ig as negative control but use her DAKO kit mixed anti-mouse and anti-rabbit IgG-HRP as provided.

Will need to order Abcam ab21603 100 ul 380 euros = Nanog and ab19857 100 ul 380 euros = Pou5f1/Oct3-4 unless I have some sort of reduction!

Discussed getting “cone medullaire” from fetal pathology, Alexis would also like to obtain what he calls the “face anterieure sacro-coccygien” but I pointed out that in later pregnancy this is not likely to be the time when the teratoma begins, and also there will be possible problems in decalcification.

Found that around slide 300 in R708 embryo – does it work in in situ? Not clear but for immuno worth a try – the “cone medullaire” is pretty well represented.

Tania – beyond all the millions of things that seem to be bearing out for Meckel syndrome – nearly all the JBS (9) genes are also involved in Meckel and vice-versa, except for MKS1 and I think JBS5/8… - another nice thing is happening for Fowler syndrome. This is where tons of inappropriate blood vessels melt down the brain and get secondary hydranencephaly. Consanguineous Turkish family, three kids, a recidive and tour de genome sur puce 250K Affy SNPs. Two major regions, 17 and 13Mb I believe, and a couple of very small ones (but Tania made arbitrary cutoff at >5Mb). Recently, thanks to Ferechte and SOFFOET, second Turkish family similar situation, Tania expects might be related distantly and the same region may come out of the SNP results, even though only DNA from the two affected (one dead for 1 wk so bad DNA, one medical interruption of pregnancy). But also a non-consanguineous family, that might be more helpful in narrowing things down.

Organised pickup for all the pipi’s that need to go for analysis to the IRSN. Requested workers’ cards for the legal obligation that the ASN will ask for when we submit our modification request, from the IRSN Siseri site. Francoise Maillet from the ADR (DRH) explained that we are between “medecins du travail” but can prepare for that.

  • Heather 08:50, 5 December 2008 (EST):