📇 Rhumatologue · CRETEIL CEDEX · (94) · Salarié

M BERNARD MAITRE

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Auteur de référence en rhumatologie
50 articles scientifiques publiés — un praticien à la pointe de la recherche
Délais de RDV courts dans la région
134 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 CRETEIL CEDEX (94)SalariéRPPS 10001446862

📊 Reconnaissance scientifique : 51/100📝 359 articles publiés🇫🇷 Publications académiques françaises (8)

✨ Génération du profil synthétique IA en cours…

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Indicateurs publics agrégés sur 250 M+ d'œuvres scientifiques (OpenAlex, PubMed). Traduits ici en langage patient.

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Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

The European respiratory journal · 2021

📚 85 citations🎯 RCR 6.61Top 5% NIH🔓 Open Access📄 PDF gratuit ↗

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BackgroundPrimary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype–phenotype relationships have mostly arisen from small case series because existing statistical approaches to investigating relationships have been unsuitable for rare diseases.MethodsWe applied a topological data analysis (TDA) approach to investigate genotype–phenotype relationships in PCD. Data from separate training and validation cohorts included 396 genetically defined individuals carrying pathogenic variants in PCD genes. To develop the TDA models, 12 clinical and diagnostic variables were included. TDA-driven hypotheses were subsequently tested using traditional statistics.ResultsDisease severity at diagnosis, measured by forced expiratory volume in 1 s (FEV1) z-score, was significantly worse in individuals withCCDC39mutations (compared to other gene mutations) and better in those withDNAH11mutations; the latter also reported less neonatal respiratory distress. Patients without neonatal respiratory distress had better preserved FEV1at diagnosis. Individuals withDNAH5mutations were phenotypically diverse. Cilia ultrastructure and beat pattern defects correlated closely to specific causative gene groups, confirming these tests can be used to support a genetic diagnosis.ConclusionsThis large scale, multi-national study presents PCD as a syndrome with overlapping symptoms and variations in phenotype according to genotype. TDA modelling confirmed genotype–phenotype relationships reported by smaller studies (e.g.FEV1worse withCCDC39mutation) and identified new relationships, including FEV1preservation withDNAH11mutations and diversity of severity withDNAH5mutations.

Gender Differences in Idiopathic Pulmonary Fibrosis: Are Men and Women Equal?

Frontiers in medicine · 2021

📚 49 citations🎯 RCR 3.83Top 12% NIH🔓 Open Access📄 PDF gratuit ↗

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Background: Idiopathic pulmonary fibrosis (IPF) is characterized by a male predominance. The aim of the study was to explore gender differences in a well-designed French multicentre prospective IPF cohort (COhorte FIbrose, COFI) with a 5-year follow-up.Methods: Between 2007 and 2010, 236 patients with incident IPF were included in COFI. Gender characteristics were compared using a t-test, Chi-squared test and ANOVA, as appropriate. Survival analyses were performed.Results: Fifty-one (22%) females and 185 (78%) males with an average age at diagnosis of 70.1 ± 9.20 and 67.4 ± 10.9 years, respectively, were included in the cohort. Women were significantly less exposed to tobacco smoke [never n = 32 (62.7%) vs. n = 39 (21.1%), p &lt; 0.001] and to occupational exposure [n = 7 (13.7%) vs. n = 63 (34.1%), p = 0.012]. Baseline forced vital capacity, % of predicted (FVC%) was significantly better in women compare to men (83.0% ± 25.0 v. 75.4% ± 18.7 p = 0.046). At presentation honeycombing and emphysema on CT scan were less common in women [n = 40 (78.4%) vs. n = 167 (90.3%) p = 0.041] and [n = 6 (11.8%) vs. n = 48 (25.9%) p = 0.029], respectively. During follow-up fewer women were transplanted compared to men [n = 1 (1.96%) vs. n = 20 (10.8%) p = 0.039]. Medians of survival were comparable by gender [31 months (CI 95%: 28–40) vs. 40 months (CI 95%: 33–72) p = 0.2]. After adjusting for age and FVC at inclusion, being a woman was not associated to a better survival.Conclusions: Women appear to have less advanced disease at diagnosis, maybe due to less exposure history compare to men. Disease progression and overall survival remains comparable regardless gender, but women have less access to lung transplantation.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

American journal of human genetics · 2020

📚 47 citations🎯 RCR 2.71Top 18% NIH🔓 Open Access📄 PDF gratuit ↗

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M BERNARD MAITRE

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Activité de recherche & publications

Publications académiques en France

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Top publications · les plus citées

Publications scientifiques (50) — classées par pathologie

Transversal36

Recommandations4

Pédiatrie3

Épidémiologie & registres2

Essai clinique2

Revue générale2

Santé mentale / fatigue1

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