Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly to previously reported cases, the phenotype of our patients is characterized by delayed milestones, speech disturbance, intellectual disability, abnormal behaviours and a characteristic facial dysmorphism.

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification.

The strong positive-allometric relationship between brain size, cortical extension and gyrification complexity, recently highlighted in the general population, could be modified by brain developmental disorders. Indeed, in case of brain growth insufficiency, the pathophysiological relevance of the "simplified gyral pattern" phenotype is strongly disputed since almost no genotype-phenotype correlations have been found in primary microcephalies. Using surface scaling analysis and newly-developed spectral analysis of gyrification (Spangy), we tested whether the gyral simplification in groups of severe microcephalies related to ASPM, PQBP1 or fetal-alcohol-syndrome could be fully explained by brain size reduction according to the allometric scaling law established in typically-developing control groups, or whether an additional disease effect was to be suspected.

A finite-element analysis of Kienbock's disease.

A finite-element analysis model of the lunate was established using geometrical data obtained from cadaveric bones. The lunate cortex was modelled with triangular and quadrilateral elements and its intraosseous structure was represented either as a homogenous elastic structure or as an anisotropic network of cortical bone beams (trabeculae) with different orientations and thicknesses. Compressive loads applied to the metacarpus were distributed in the carpus against the fixed radius and ulna.

[Clinical study and prevalence of fetal alcohol syndrome in medico-social institutions of the Reunion Island].

Background: Fetal alcohol syndrome (FAS) is a major problem in the Reunion Island and the Public Health Authorities decided to determine its prevalence in their medico-social centers on 31 December 1996.

Material And Methods: A questionnaire was established to identify affected patients in the 20 medico-social centers in charge of 1320 children. Eighty-eight children were selected and 87 could be analyzed.