Manioc : Portail | resultats 21 - 40 pour la recherche: chirurgie

Les frères de la Coste, flibustiers et corsaires
Auteur(s) : Besson, Maurice (1885-1946)
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Bulletin officiel de la Guyane française
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Bulletin officiel de la Guyane française
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Voyages aux Isles de l'Amérique (Antilles) : 1693-1705 : trente-deux illustrations d'après des documents de l'époque.Tome 1
Auteur(s) : Labat, Jean-Baptiste (1663-1738)
Auteurs secondaires : T'Serstevens, Albert (1886-1974)
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Histoire générale des Antilles. Tome cinquième et deuxième de la deuxième série
Auteur(s) : Dessalles, Adrien (1809-1870)
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Histoire des maladies de S. Domingue. Tome second
Auteur(s) : Pouppé-Desportes, Jean-Baptiste-René (1704-1748)
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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Auteur(s) : Prasad, Megana K. Geoffroy, Véronique Vicaire, Serge Jost, Bernard Dumas, Michael Le Gras, Stéphanie Switala, Marzena Gasse, Barbara
Auteurs secondaires : Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) ; Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS) DNA Microarrays and Sequencing Platform ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) Evolution Paris Seine ; Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA) - Centre National de la Recherche Scientifique (CNRS) - Université des Antilles et de la Guyane (UAG) - Université Pierre et Marie Curie - Paris 6 (UPMC) Service de médecine infantile III et génétique clinique [CHRU Nancy] ; Hôpital d'Enfants Brabois [CHRU Nancy] ; Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy) - Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy) - Université de Lorraine (UL) Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE) ; Institut National de la Santé et de la Recherche Médicale (INSERM) - Université de Lorraine (UL) Service d'odontologie [CHU Nancy] ; Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy) Faculté de Chirurgie Dentaire Human Genetics Institute ; Heidelberg University

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

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L'Amérique angloise, ou Description des isles et terres du roi d'Angleterre, dans l'Amérique. Avec de nouvelles cartes de chaque isle & terres
Auteur(s) : Blome, Richard (16..-1705)
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Adipose Tissue Is a Neglected Viral Reservoir and an Inflammatory Site during Chronic HIV and SIV Infection
Auteur(s) : Damouche, Abderaouf Lazure, Thierry Avettand-Fenoël, Véronique Huot, Nicolas Dejucq-Rainsford, Nathalie Satie, Anne-Pascale Mélard, Adeline David, Ludivine
Auteurs secondaires : Immunologie des Maladies Virales et Autoimmunes (IMVA - U1184) ; Institut National de la Santé et de la Recherche Médicale (INSERM) - Université Paris-Sud - Paris 11 (UP11) - Commissariat à l'énergie atomique et aux énergies alternatives (CEA) Service d'Anatomo-Pathologie ; Université Paris-Sud - Paris 11 (UP11) - Hôpital Bicêtre - Assistance Publique-Hopitaux de Paris Infection à VIH, réservoirs, diversité génétique et résistance aux antirétroviraux (ARV) (EA 7327) ; Université Paris Descartes - Paris 5 (UPD5) HIV, Inflammation et persistance ; Institut Pasteur [Paris] Institut de recherche, santé, environnement et travail [Rennes] (Irset) ; Université d'Angers (UA) - Université des Antilles et de la Guyane (UAG) - Université de Rennes 1 (UR1) - École des Hautes Études en Santé Publique [EHESP] (EHESP) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) Institute for Emerging Diseases and Innovative Therapies (iMETI) (IDMIT Center) Service de Médecine Interne et Immunologie clinique ; Hôpital Bicêtre Service de Chirurgie Viscérale Minimale invasive ; Hôpital Antoine-Béclère AP-HP

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
Two of the crucial aspects of human immunodeficiency virus (HIV) infection are (i) viral persistence in reservoirs (precluding viral eradication) and (ii) chronic inflammation (directly associated with all-cause morbidities in antiretroviral therapy (ART)-controlled HIV-infected patients). The objective of the present study was to assess the potential involvement of adipose tissue in these two aspects. Adipose tissue is composed of adipocytes and the stromal vascular fraction (SVF); the latter comprises immune cells such as CD4+ T cells and macrophages (both of which are important target cells for HIV). The inflammatory potential of adipose tissue has been extensively described in the context of obesity. During HIV infection, the inflammatory profile of adipose tissue has been revealed by the occurrence of lipodystrophies (primarily related to ART). Data on the impact of HIV on the SVF (especially in individuals not receiving ART) are scarce. We first analyzed the impact of simian immunodeficiency virus (SIV) infection on abdominal subcutaneous and visceral adipose tissues in SIVmac251 infected macaques and found that both adipocytes and adipose tissue immune cells were affected. The adipocyte density was elevated, and adipose tissue immune cells presented enhanced immune activation and/or inflammatory profiles. We detected cell-associated SIV DNA and RNA in the SVF and in sorted CD4+ T cells and macrophages from adipose tissue. We demonstrated that SVF cells (including CD4+ T cells) are infected in ART-controlled HIV-infected patients. Importantly, the production of HIV RNA was detected by in situ hybridization, and after the in vitro reactivation of sorted CD4+ T cells from adipose tissue. We thus identified adipose tissue as a crucial cofactor in both viral persistence and chronic immune activation/inflammation during HIV infection. These observations open up new therapeutic strategies for limiting the size of the viral reservoir and decreasing low-grade chronic inflammation via the modulation of adipose tissue-related pathways
ISSN: 1553-7366

Droits : http://creativecommons.org/licenses/by/
hal-01207287
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01207287
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01207287/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01207287/file/journal.ppat.1005153.pdf
DOI : 10.1371/journal.ppat.1005153

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