Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
ISSN: 1098-3600

hal-01134364
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134364
DOI : 10.1038/gim.2015.29
PUBMED : 25790162

Éditeur(s) : HAL CCSD
Résumé : National audience
Expositions environnementales et santé : évaluations, attentes et incertitudes. Applications à la présence des pesticides dans l’environnement et à la pollution de l’air urbain
Lyon, France

hal-01283641
https://hal.archives-ouvertes.fr/hal-01283641

Éditeur(s) : HAL CCSD Météo et Climat
Résumé : International audience
D'initiative française, le projet international HyMeX a pour objectif d'améliorer la compréhension du cycle de l'eau en Méditerranée, de sa variabilité, de l'échelle de l'événement météorologique aux échelles saisonnières et interannuelles, et de ses caractéristiques sur une décennie, dans un contexte de changement global. Le projet est motivé par le rôle déterminant des processus de mésoéchelle, couplés entre l'atmosphère, la mer et la terre, sur la variabilité du système climatique et sur le déclenchement d'événements hydrométéorologiques extrêmes (précipitations et inondations, vents forts et convection océanique, canicules et sécheresses). Le projet vise enfin à évaluer les conséquences de ces événements extrêmes sur la vulnérabilité sociale et économique de cette région et sa capacité d'adaptation.
ISSN: 0026-1181

hal-00828758
https://hal.archives-ouvertes.fr/hal-00828758
https://hal.archives-ouvertes.fr/hal-00828758/document
https://hal.archives-ouvertes.fr/hal-00828758/file/meteo_2013_80_23%20%281%29.pdf
DOI : 10.4267/2042/48792

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: An environmental health inequality is a major public health concern in Europe. However just few studies take into account a large set of characteristics to analyze this problematic. The aim of this study was to identify and describe how socioeconomic, health accessibility and exposure factors accumulate and interact in small areas in a French urban context, to assess environmental health inequalities related to infant and neonatal mortality.Methods: Environmental indicators on deprivation index, proximity to high-traffic roads, green space, and healthcare accessibility were created using the Geographical Information System. Cases were collected from death certificates in the city hall of each municipality in the Nice metropolitan area. Using the parental addresses, cases were geocoded to their census block of residence. A classification using a Multiple Component Analysis following by a Hierarchical Clustering allow us to characterize the census blocks in terms of level of socioeconomic, environmental and accessibility to healthcare, which are very diverse definition by nature. Relation between infant and neonatal mortality rate and the three environmental patterns which categorize the census blocks after the classification was performed using a standard Poisson regression model for count data after checking the assumption of dispersion.Results: Based on geographic indicators, three environmental patterns were identified. We found environmental inequalities and social health inequalities in Nice metropolitan area. Moreover these inequalities are counterbalance by the close proximity of deprived census blocks to healthcare facilities related to mother and newborn. So therefore we demonstrate no environmental health inequalities related to infant and neonatal mortality.Conclusion: Examination of patterns of social, environmental and in relation with healthcare access is useful to identify census blocks with needs and their effects on health. Similar analyzes could be implemented and considered in other cities or related to other birth outcomes.
ISSN: 1476-069X

halshs-01366285
https://halshs.archives-ouvertes.fr/halshs-01366285
https://halshs.archives-ouvertes.fr/halshs-01366285/document
https://halshs.archives-ouvertes.fr/halshs-01366285/file/art_10.1186_s12940-016-0163-7.pdf
PUBMED : 27449640

Éditeur(s) : HAL CCSD
Résumé : International audience
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hal-01283581
https://hal.archives-ouvertes.fr/hal-01283581