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Rhumatologue

Docteur PHILIPPE COUSSIRAT-COUSTERE

RPPS 10001105757

Diplômes

🎓 DES & spécialité ordinale

  • Rhumatologie (SM)

🏅 DU / DIU

  • Diplôme études médicales relatives à la Réparation juridique du dommage corporel

📚 CES (Certificat d'Études Spéciales)

  • CES Rhumatologie

🎓 Diplômes

  • DE Docteur en médecine

Source : Annuaire Santé ANS (FHIR Practitioner.qualification) · Mises à jour quotidiennes.

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Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).

Top publications · les plus citées

  • 1
    Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

    Nature genetics · 2026

    📚 4 citations🔓 Open Access📄 PDF gratuit ↗
    Lire l'abstract Crossref ↓

    Abstract Small nuclear RNAs (snRNAs) are essential components of the spliceosome. De novo variants in snRNA genes RNU4-2 (ReNU syndrome), RNU5B-1 and RNU2-2 have been linked to dominant neurodevelopmental disorders (NDDs), revealing a large unexpected contribution of noncoding RNA genes to genetic diseases. Here, through international collaborations, we analyze systematically 200 potentially functional snRNA genes in a French cohort of 34,329 people with rare disorders. We report RNU2-2 variants in 141 individuals, including 35 with recurrent dominant pathogenic variants and 91 affected members from 73 families with biallelic variants. Recessive RNU2-2 NDD is at least twice as frequent as the dominant form and often involves a de novo variant in trans with an inherited allele, consistent with the high mutability of snRNA genes. Dominant and recessive RNU2-2 NDDs share overlapping clinical features, with frequent epilepsy. Blood transcriptomics and DNA methylation analyses revealed subtle, variant-specific effects on splicing and episignatures. Our results support a gradient-of-impact model bridging dominant and recessive inheritance, and establish RNU2-2 variants as a principal contributor to NDDs, nearly as prevalent as ReNU syndrome.

  • 2
    Functional and return-to-sport outcomes after arthroscopic anatomic reconstruction of the lateral ligaments of the ankle

    Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons · 2025

    📚 3 citations
  • 3
    The Impact of Metabolic Complications in Pregnancy on Later Life Maternal Cardiometabolic Health: Findings From the ROLO Longitudinal Cohort Study

    BJOG : an international journal of obstetrics and gynaecology · 2026

    📚 2 citations🔓 Open Access📄 PDF gratuit ↗
    Lire l'abstract Crossref ↓

    ABSTRACT Objective To explore associations between pregnancy metabolic complications and maternal cardiometabolic health 10 years postpartum. Design Prospective Longitudinal Cohort Study following a randomised controlled trial. Setting Single‐centre. Population Pregnancy metabolic complication (pregnancy‐induced hypertension, impaired glucose tolerance, or gestational diabetes) versus an uncomplicated pregnancy in secundigravid women who previously delivered a macrosomic infant. Methods Health and lifestyle data were obtained from 422 women during pregnancy and again 10 years postpartum. Anthropometry, dual‐energy X‐ray absorptiometry scans, and non‐fasting blood samples were recorded 10 years postpartum. Unadjusted and adjusted linear regression explored associations between pregnancy metabolic complications and cardiometabolic markers with adjustment for potential confounders (study group allocation, age at follow‐up, maternal ethnicity, early pregnancy body mass index (BMI), use of cardiometabolic medications, maternal smoking at 10 years postpartum, and socio‐economic status). Main Outcome Measures Cardiometabolic risk profile 10 years postpartum. Results Of 422 women, 27.7% ( n = 117) experienced a metabolic complication in pregnancy. Pregnancy metabolic complications were associated with greater postpartum weight retention ( ß = 1.72, 95% CI 0.08, 3.36), higher BMI ( ß = 0.70, 95% CI 0.09, 1.31), greater visceral adipose tissue mass ( ß = 0.12, 95% CI 0.01, 0.23), greater total cholesterol ( ß = 0.36, 95% CI 0.15, 0.58), greater LDL‐cholesterol ( ß = 0.29, 95% CI 0.09, 0.50), greater triglycerides ( ß = 0.06, 95% CI 0.03, 0.32), and greater glucose ( ß = 0.22, 95% CI 0.03, 0.40) at 10 years postpartum. Conclusions Pregnancy metabolic complications were associated with an altered cardiometabolic risk profile 10 years postpartum.

Publications scientifiques (50) — classées par pathologie

Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).

Transversal30

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Revue générale8

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Épidémiologie & registres4

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Biomarqueurs / Auto-Ac2

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Génétique2

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Microbiote2

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csDMARDs1

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Économie santé1

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Essai clinique1

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Pédiatrie1

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Qualité de vie / PROMs1

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Santé mentale / fatigue1

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