Éditeur(s) : HAL CCSD
Résumé : International audience
Background Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. Methods We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. Results We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. Conclusions We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. Trial registration numbers NCT01746121 and NCT02397824
Journal of Medical Genetics

hal-01272929
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01272929
DOI : 10.1136/jmedgenet-2015-103302
PUBMED : 26502894

Éditeur(s) : Pergamon-elsevier Science Ltd
Résumé : The south-west lagoon of New Caledonia is a wide semi-open coral reef lagoon bounded by an intertidal barrier reef and bisected by numerous deep inlets. This paper synthesizes findings from the 2000-2008 French National Program EC2CO-PNEC relative to the circulation and the transport of suspended particles in this lagoon. Numerical model development (hydrodynamic, fine suspended sediment transport, wind-wave, small-scale atmospheric circulation) allowed the determination of circulation patterns in the lagoon and the charting of residence time, the later of which has been recently used in a series of ecological studies. Topical studies based on field measurements permitted the parameterisation of wave set-up induced by the swell breaking on the reef barrier and the validation of a wind-wave model in a fetch-limited environment. The analysis of spatial and temporal variability of suspended matter concentration over short and long time-scales, the measurement of grain size distribution and the density of suspended matter (1.27 kg 1(-1)), and the estimation of erodibility of heterogeneous (sand/mud, terrigenous/biogenic) soft bottoms was also conducted. Aggregates were shown to be more abundant near or around reefs and a possible biological influence on this aggregation is discussed. Optical measurements enabled the quantification of suspended matter either in situ (monochromatic measurements) or remotely (surface spectral measurements and satellite observations) and provided indirect calibration and validation of a suspended sediment transport model. The processes that warrant further investigation in order to improve our knowledge of circulation and suspended sediment transport in the New Caledonia lagoon as well as in other coral reef areas are discussed, as are the relevance and reliability of the numerical models for this endeavour.
Marine Pollution Bulletin (0025-326X) (Pergamon-elsevier Science Ltd), 2010 , Vol. 61 , N. 7-12 , P. 269-296

Droits : 2010 Elsevier Ltd All rights reserved.
http://archimer.ifremer.fr/doc/00014/12526/9401.pdf
DOI:10.1016/j.marpolbul.2010.06.023
http://archimer.ifremer.fr/doc/00014/12526/

Éditeur(s) : HAL CCSD MDPI
Résumé : International audience
Lead in childhood is well known to be associated with poor neurodevelopment. As part of a study on maternal anemia and offspring neurodevelopment, we analyzed blood lead level (BLL) with no prior knowledge of lead exposure in 225 mothers and 685 offspring 1 to 2 years old from Allada, a semi-rural area in Benin, sub-Saharan Africa, between May 2011 and May 2013. Blood samples were analyzed by inductively coupled plasma mass spectrometry. Environmental assessments in households and isotopic ratio measurements were performed for eight children with BLL extgreater 100 µg/L. High lead levels (BLL extgreater 50 µg/L) were found in 44% of mothers and 58% of children. The median BLL was 55.1 (interquartile range 39.2-85.0) and 46.6 (36.5-60.1) µg/L, respectively. Maternal BLL was associated with offspring's consumption of piped water and animals killed by ammunition. Children's BLL was associated with presence of paint chips in the house and consumption of animals killed by ammunition. In this population, with 98% of children still breastfed, children's BLL was highly associated with maternal BLL on multivariate analyses. Environmental measures and isotopic ratios supported these findings. Offspring may be highly exposed to lead in utero and probably via breastfeeding in addition to lead paint exposure
ISSN: 1660-4601

hal-01296778
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01296778
DOI : 10.3390/ijerph13030316
PUBMED : 26978384

Résumé : This synthesis report assesses the current state of the marine hydrobiological knowledge acquired in the surroundings of the Flamanville electronuclear site (north-west of Cotentin), in the framework of the various project and monitoring programs in the pelagic, benthic and halieutic domains carried out on this site since 1976. Each domain is divided, as much as necessary, into different study areas such as hydrobiology, phytoplankton, microbiology, crustacean larvae or macrophyte algae. For each area, a series of parameters, considered as representative of the evolution of this area, is studied. In this way, for the hydrological area, the sea water temperature and salinity, the mineral nutriment concentrations, the holagen compounds and the boron are monitored. The evolution of each of these parameters enabled us to draw the following conclusions. The vegetal and animal species' physiology is conditioned by climate changes. The study of the pluviometry and air temperature parameters shows that the 1986/2005 period is slightly less humid and warmer than the 1949/2005 period. This reflects also on the sea water temperature whose average values increase on a regular basis.
Ce rapport de synthèse fait le point sur l'état des connaissances hydrobiologiques marines acquises aux abords du site électronucléaire de Flamanville (nord-ouest Cotentin), dans le cadre des différents programmes de projet et de surveillance des domaines pélagique, benthique et halieutique, menés sur ce site depuis 1976. Chaque domaine est divisé, autant que nécessaire, en compartiments d'étude, tels que l'hydrologie, le phytoplancton, la microbiologie, les larves de crustacés ou les algues macrophytes. Pour chaque compartiment, une série de paramètres, jugés représentatifs de l'évolution de ce compartiment, est étudié. Ainsi, pour le compartiment hydrologique, sont suivis la température et la salinité de l'eau de mer, les concentrations en nutriments minéraux, les composés halogénés et le bore. Les évolutions de ces différents paramètres ont permis d'élaborer les conclusions suivantes. La physiologie des espèces animales et végétales est conditionnée par les changements climatiques. L'examen des paramètres pluviométrie et température de l'air montre que la période 1986/2005 est sensiblement plus humide et plus chaude que la période 1949/2005. Cela se répercute également sur la température de l'eau de mer dont les valeurs moyennes croissent régulièrement.

Droits : info:eu-repo/semantics/openAccess
http://archimer.ifremer.fr/doc/2006/rapport-6405.pdf
http://archimer.ifremer.fr/doc/00000/6405/