Exposure chambers for studying the partitioning of atmospheric PAHs in environmental compartments: validation and calibration using experimental and computational approaches.

The environmental partitioning of atmospheric polycyclic aromatic hydrocarbons (PAHs) conditions their entry into food chains and subsequent risks for human health. The need for new experimental exposure devices for elucidating the mechanisms governing ecosystemic PAH transfer motivated the elaboration of an original small-scale exposure chamber (EC). A dual approach pairing experimentation and computational fluid dynamics (CFD) was selected to provide comprehensive validation of this EC as a tool to study the transfer and biological effects of atmospheric PAH pollution in microsystems.

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Microdeletion at the 22q11 locus is characterised by a high clinical variability. Congenital heart defects (CHD) are the most life-threatening manifestations of the syndrome and affect approximately 50% of patients carrying the deleted chromosome 22. The causes of this phenotype variability remain unknown although several hypotheses have been raised.

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

The urofacial syndrome (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and facial abnormalities. The gene was mapped on chromosome region 10q23-q24. We report the first European cases of UFS.

Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.

Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11-q13. Mutations of UBE3A have recently been identified as causing AS in the latter group.