A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

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 articleresearch support, non-u.s. gov't2016 Feb2015 10 26importe

Témoignages de mères usagères de substances psychoactives

À partir d'une étude sur le devenir des mères ayant été vues par l'équipe de coordination et d'intervention auprès des malades usagers de drogues (ECIMUD) de Mulhouse entre 2004 et 2006, des témoignages ont pu être recueillis fortuitement. Ces mères ont témoigné de leur combat réussi, bien souvent grâce à leur(s) enfant(s). Elles se sont montrées également en quête de reconnaissance d'un statut de bonne mère. Enfin, elles ont relevé la nécessité pour les professionnels de se comporter de fac¸on empathique et de leur offrir un étayage qu'elles apprécient d'autant plus qu'elles sont socialement défavorisées

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Ce chapitre d'ouvrage retrace l'histoire de vie d'une femme âgée de 55 ans - victime de l'alcool - porteur du syndrome d'alcoolisation complet. Il met en lumière toutes les difficultés à s'adapter à la vie en société et les investissements matériels et humains nécessaires tout au long de la vie des porteurs de ce syndrome

What women in France say about alcohol abstinence during pregnancy

International audienceIn spite of the implemented policies warning of the dangers of alcohol consumption for pregnant women, many women still continue drinking during pregnancy. This article focuses on the question of the representations of alcohol consumption during pregnancy in France. Alcohol consumption during pregnancy already constitutes a real taboo for the heath care professionals in France. It is extremely urgent and imperative that they recommend total abstinence during pregnancy, in order to avoid any irreversible consequences for the unborn babie

An adaptable environment, a successful school life for children suffering from FASD : the example of the Reunion Island

Site web de la conférence : http://www.interprofessional.ubc.ca/FASd

Vieillissement et réforme du système des retraites en Italie

Toutain Stéphanie. Vieillissement et réforme du système des retraites en Italie. In: Population, 52ᵉ année, n°2, 1997. pp. 441-449

L'activité après 55 ans en Italie

Toutain S. L'activité après 55 ans en Italie. In: Population, 54ᵉ année, n°3, 1999. pp. 555-572