Publications by authors named "Chloe Puisney-Dakhli"
Long term exposure to particulate air pollution is known to increase respiratory morbidity and mortality. In urban areas with dense traffic most of these particles are generated by vehicles, via engine exhaust or wear processes. Non-exhaust particles come from wear processes such as those concerning brakes and their toxicity is little studied.
View Article and Find Full Text PDFArticle Synopsis
- Growing interest in neurodevelopmental disorders and advances in chromosomal microarray analysis have led to increased identification of neuro-susceptibility copy number variations (CNVs) with incomplete penetrance and variable expressivity, making detection tricky.
- The French research group "AchroPuce" has identified 17 specific CNVs that are considered significant in this context and has shaped current postnatal healthcare practices, but there's still no consensus for prenatal diagnosis.
- A survey of 121 French health professionals revealed strong support for reporting these PIEV CNVs to patients before birth, emphasizing the need for multidisciplinary consultation as a key approach for better recommendations in prenatal care and genetic counseling.
Objective: Uniparental disomy (UPD) is one of the common causes of imprinting disorders, which can have an impact on gene expression according to the origin of the parental chromosome. Paternal UPD14 leads to Kagami-Ogata syndrome (KOS), which has a more severe phenotype than maternal UPD14, also called Temple syndrome. Small supernumerary marker chromosomes (SSMCs) are defined as structural chromosomal abnormalities that may be inherited or come from micronucleus-mediated chromothripsis.
View Article and Find Full Text PDFArticle Synopsis
- First trimester ultrasound screening is typically done at 11-13 weeks of pregnancy, helping to assess fetal health but not fully detailing all organ developments yet.
- Increased nuchal translucency (INT) can indicate chromosomal abnormalities and was observed in a 14-week gestation fetus with univentricular congenital heart malformation, leading to further genetic testing.
- Genetic analysis revealed a deletion in the FOXF1 gene, linked to specific heart and lung conditions; this case marks the first known instance of prenatal diagnosis of alveolar capillary dysplasia due to this genetic deletion.