High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.

International audiencePURPOSE:To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report six novel mutations, to characterize the biochemical features of a recurrent novel mutation and to study the clinical features of adRP patients.DESIGN:Retrospective clinical and molecular genetic study.METHODS:Clinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging and electroretinogram (ERG) recording. PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP. Peripherin-2 protein was produced in yeast and analyzed by Western blot.RESULTS:We identified 15 mutations, including 6 novel and 9 previously reported changes in 32 families, accounting for a prevalence of 10.3% in this adRP population. We showed that a new recurrent p.Leu254Gln mutation leads to protein aggregation, suggesting abnormal folding. The clinical severity of the disease in examined patients was moderate with 78% of the eyes having 1 to 0.5 of visual acuity and 52% of the eyes retaining more than 50% of the visual field. Some patients characteristically showed vitelliform deposits or macular involvement. In some families, pericentral RP or macular dystrophy were found in family members while widespread RP was present in other members of the same families.CONCLUSIONS:The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PRPH2 mutations cause highly variable phenotypes and moderate forms of adRP, including mild cases which could be underdiagnosed

Etude morpho-anatomique approfondie de l'endocrâne d'Actinoptérygiens du carbonifère des EUA et recherche du message phylogénétique des carctères de l'endocrâne des Actinoptérygiens basaux

Les Paléonisciformes sont un vaste ensemble paraphylétique d'Actinoptérygiens essentiellement paléozoïques, connus surtout par leur exosquelette. Leur endocrâne est rarement préservé et son anatomie n est connue que chez quelques rares taxons. Le présent travail vient accroître notre connaissance de l anatomie de ces structures par l étude morpho-anatomique détaillée de l endocrâne de trois taxons Carbonifères : Lawrenciella schaefferi Poplin 1984, le Paléoniscide C de Rayner (1951) et Kentuckia deani Rayner 1951. Pour ce faire, des méthodes d analyse modernes (CT scan, reconstruction de modèles 3D virtuels, analyses chimiques par MEB/EDX) ont été utilisées. Une étude phylogénétique a été réalisée uniquement sur la base de caractères de l endocrâne et du parasphénoïde. L arbre obtenu a permis de confirmer la paraphylie des Paléonisciformes ainsi que d élaborer de nouvelles hypothèses de relations de parenté différentes des analyses phylogénétiques antérieures.The "Paleonisciforms are a vast paraphyletic group composed essentially of Paleozoic Actinopterygians mainly known by their exoskeleton. Their endocranium is rarely preserved and its anatomy is only known for some taxa. The present work increases our knowledge of the anatomy of these structures thanks to detailed morpho-anatomical study of the endocranium of three Carboniferous taxa: Lawrenciella schaefferi Poplin 1984, Paleoniscid C of Rayner (1951) and Kentuckia deani Rayner 1951. In this purpose, modern analytical methods (CT scan, reconstruction of 3D models, chemical analyses by SEM / EDX) were used. A phylogenetic analysis is made uniquely on the basis of features from the endocranium and parasphenoid. The resulted tree confirms the paraphyly of the "Paleonisciforms" as well as elaborates new hypotheses of relationships different from previous phylogenetic analysesPARIS-Museum Hist.Naturelle (751052304) / SudocSudocFranceF

Les tableaux de bord sur les données dans les urgences : comment mieux les comprendre

Cet article a pour but de présenter les outils existants servant à la consultation des données concernant les services d’urgence par le personnel du réseau de la santé et des services sociaux (RSSS) et par le public. Ceux-ci peuvent s’avérer utiles pour la prise de décision afin de mieux répondre aux besoins des utilisateurs et des décideurs

In Vitro and In Vivo Bactericidal Activities of Vancomycin Dispersed in Porous Biodegradable Poly(ɛ-Caprolactone) Microparticles

Treatment of methicillin-resistant Staphylococcus aureus osteomyelitis requires a prolonged antibiotic therapy with vancomycin. Because of its weak diffusion, the in situ implantation of vancomycin could be interesting. The activity of vancomycin encapsulated in microparticles was evaluated in vitro and in vivo on rabbit osteomyelitis and showed a good activity compared to intravenous administration

The evolutionary conserved proteins CEP90, FOPNL, and OFD1 recruit centriolar distal appendage proteins to initiate their assembly

International audienceIn metazoa, cilia assembly is a cellular process that starts with centriole to basal body maturation, migration to the cell surface, and docking to the plasma membrane. Basal body docking involves the interaction of both the distal end of the basal body and the transition fibers/distal appendages, with the plasma membrane. Mutations in numerous genes involved in basal body docking and transition zone assembly are associated with the most severe ciliopathies, highlighting the importance of these events in cilium biogenesis. In this context, the ciliate Paramecium has been widely used as a model system to study basal body and cilia assembly. However, despite the evolutionary conservation of cilia assembly events across phyla, whether the same molecular players are functionally conserved, is not fully known. Here, we demonstrated that CEP90, FOPNL, and OFD1 are evolutionary conserved proteins crucial for ciliogenesis. Using ultrastructure expansion microscopy, we unveiled that these proteins localize at the distal end of both centrioles/basal bodies in Paramecium and mammalian cells. Moreover, we found that these proteins are recruited early during centriole duplication on the external surface of the procentriole. Functional analysis performed both in Paramecium and mammalian cells demonstrate the requirement of these proteins for distal appendage assembly and basal body docking. Finally, we show that mammalian centrioles require another component, Moonraker (MNR), to recruit OFD1, FOPNL, and CEP90, which will then recruit the distal appendage proteins CEP83, CEP89, and CEP164. Altogether, we propose that this OFD1, FOPNL, and CEP90 functional module is required to determine in mammalian cells the future position of distal appendage proteins

Addressing sexuality and sexual health with migrants. Practice guidelines

Sexual health is an integral part of overall health and should be discussed with all people who seek help. The Vaccination and Prevention working group of the French Infectious Diseases Society (SPILF) and the Migrant Commission of the French AIDS Society (SFLS) developed recommendations to address this issue with migrants presenting vulnerability factors. After defining sexual health and target migrants, practical recommendations were issued. Sexual health can be discussed simply with migrants or people with an immigrant background. Some migrants are exposed to sexual vulnerability due to their migration route, social isolation, administrative and housing insecurity, gender inequalities, and discrimination. Situations of sexual vulnerability, sexual violence, and female genital mutilation should be systematically identified and followed by appropriate care that respects the migrant's needs. Extended screening for HIV and sexually transmitted infections (STI) should be systematically offered as part of a "migrant health checkup" and completed, if necessary, with information on preventing tools for HIV, STIs, unwanted pregnancies, and sexual violence. In this population, it is important to check if vaccinations are up to date. Sexology and addiction counselling is sometimes useful. The specific needs of LGBTQIA+ people with an immigrant background should be taken into account

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

International audienc

Le contrôle des jeunes déviants

Les perceptions publiques de la jeunesse semblent se cristalliser autour de deux figures bien distinctes : d’un côté, une jeunesse ordinaire, dont on dit souvent qu’« il faut bien qu’elle se passe ». Elle est certes parfois turbulente, ou même politisée, mais ses désordres semblent transitoires et, du moins aux yeux d’une partie de la société, légitimes. De l’autre côté, une jeunesse menaçante, issue des classes populaires, qui met en échec les instances traditionnelles de socialisation et ne semble répondre qu’aux exigences de la rue, du quartier ou du gang. Si cette seconde figure n’est pas nouvelle, sa perception s’est sensiblement modifiée et le fossé s’est creusé entre les deux polarités. À la représentation des déviances comme des séquences prévisibles et presque inévitables de la vie des jeunes (hommes le plus souvent) d’origine populaire s’est substituée l’image de déviances ancrées, accompagnées de violences incontrôlées, menant de la petite délinquance à la grande criminalité, ou – ultime menace de notre époque – aux radicalisations les plus terrifiantes. Cet ouvrage met en lumière le fonctionnement des dispositifs de contrôle et les processus de typification qui contraignent en partie la jeunesse stigmatisée à ne pouvoir exister qu’à l’intérieur de cadres forgés pour elle. La multiplicité des territoires investigués, de la France au Brésil, en passant par le Québec et les États-Unis, permet de présenter une grande variété de cas et de dégager certaines tendances d’ensemble