📇 Rhumatologue · LA TRONCHE · (38) · Hospitalier
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2 raisons identifiées
Praticien-chercheur
12 articles scientifiques publiés — formation continue solide
Délais de RDV courts dans la région
120.1 rhumatos / 100 000 hab. — département bien doté
✨ Génération du profil synthétique IA en cours…
Articles déposés en accès libre sur l'archive ouverte des universités françaises (HAL) — gage d'activité de recherche en France.
Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.
Source : HAL — archive ouverte CCSD/CNRS (couvre articles, chapitres EMC, communications congrès, thèses).
HOPITAL NORD - CHU38
BD DE LA CHANTOURNE, 38700 LA TRONCHE
Secteur de conventionnement non disponible (médecin hospitalier ou non présent dans l'Annuaire santé CNAM des libéraux conventionnés).
Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).
Rheumatology (Oxford, England) · 2021
AbstractObjectivesTo evaluate the reliability of the OMERACT paediatric ultrasound (US) synovitis definitions and scoring system in JIA.MethodsThirteen sonographers analysed 75 images for the presence/absence of elementary lesions (binary scoring) and for grading synovitis, synovial hypertrophy, effusion and Doppler signals. Static US images of the second metacarpophalangeal joint (MCP-II), wrist, elbow, knee and ankle in JIA patients at different ages and different disease stages were collected with standardized scanning by two experienced sonographers. Intra- and inter-reader reliability were analysed with kappa coefficients.ResultsIntra-reader reliability was good for binary scoring (Cohen’s kappa 0.62, range 0.47–0.75), synovitis and synovial hypertrophy; excellent for Doppler signals (quadratic weighted kappa 0.77, 0.66–0.86; 0.76, 0.61–0.84; and 0.87, 0.77–0.94, respectively); and moderate for effusion (0.55, 0.24–0.76). Inter-reader reliability was good for synovitis and synovial hypertrophy (Light’s kappa 0.68, 95% CI: 0.61, 0.75 and 0.63, 0.54–0.71, respectively), excellent for Doppler signals (0.85, 95% CI: 0.77, 0.90), and moderate for binary scoring and effusion (0.48, 95% CI: 0.36, 0.64 and 0.49, 0.40–0.60, respectively). We obtained the best scores for the knee (0.71, 0.54–0.85) except for Doppler signals, with reliability higher for MCP-II. We found a trend toward better results in older children.ConclusionsThis is the first study establishing the reliability of the OMERACT paediatric US synovitis definitions and scoring system in the five most commonly affected joints in JIA. The reliability was good among a large group of sonographers. These results support the applicability of these definitions and scoring system in clinical practice and multicentre studies.
American journal of medical genetics. Part A · 2018
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz–Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly.
Pediatric neurology · 2009
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
European journal of pediatrics · 2025 · Journal Article
César T, Giovannini D, Deroux A, Bouillet L, et al.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2024 · Journal Article
Pagnier A, Dermesropian A, Kevorkian-Verguet C, Bourgoin-Heck M, et al.
Medecine sciences : M/S · 2024 · English Abstract
Milot A, Raikova M, Huzar C, Thellier V, et al.
Pediatric neurology · 2009 · Case Reports
Bing F, Nugues F, Grand S, Bessou P, et al.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) · 2004 · Clinical Trial
Cimma JP, Arnaud J, Labarere J, Guillard O, et al.
Medical and pediatric oncology · 2003 · Case Reports
Michalowski MB, Pagnier-Clémence A, Chirossel JP, Nugues F, et al.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2024 · Journal Article
Pagnier A, Dermesropian A, Kevorkian-Verguet C, Bourgoin-Heck M, et al.
Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie · 2007 · Case Reports
Teklali Y, Piolat C, Jacquier C, Nugues F, et al.
Journal of medical genetics · 2024 · Journal Article
Cuinat S, Quélin C, Effray C, Dubourg C, et al.
American journal of medical genetics. Part A · 2018 · Case Reports
Piard J, Lespinasse J, Vlckova M, Mensah MA, et al.
Rheumatology (Oxford, England) · 2021 · Journal Article
Rossi-Semerano L, Breton S, Semerano L, Boubaya M, et al.
Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie · 2007 · Case Reports
Teklali Y, Piolat C, Jacquier C, Nugues F, et al.
American journal of medical genetics. Part A · 2019 · Case Reports
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, et al.
Annales d'endocrinologie · 2017 · Journal Article
Hacquart T, Ltaief-Boudrigua A, Jeannerod C, Hannoun S, et al.