📇 Rhumatologue · PARIS CEDEX 10 · (75) · Hospitalier

MME Emmanuelle BOURRAT

Pourquoi vous devez consulter ce praticien

4 raisons identifiées

Plateau technique de référence
Assistance publique – Hôpitaux de Paris (APHP) — équipements et expertise pointus pour les cas complexes
Auteur de référence en rhumatologie
28 articles scientifiques publiés — un praticien à la pointe de la recherche
Disponibilité géographique
2 lieux d'exercice — choisissez celui qui vous arrange
Délais de RDV courts dans la région
336.2 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 PARIS CEDEX 10 (75)HospitalierRPPS 10000548296

Publications actives

6 publications sur 5 ans

📊 Reconnaissance scientifique : 3/100📝 7 articles publiés🇫🇷 Publications académiques françaises (8)

✨ Génération du profil synthétique IA en cours…

Activité de recherche & publications

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

Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses

The Journal of allergy and clinical immunology · 2022

📚 53 citations🎯 RCR 5.28Top 7% NIH🔓 Open Access📄 PDF gratuit ↗

Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa

JCI insight · 2021

📚 41 citations🎯 RCR 3.28Top 14% NIH🔓 Open Access

Lire l'abstract Crossref ↓

BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating, and life-threatening inherited skin fragility disorder that comes about due to a lack of functional type VII collagen, for which no effective therapy exists. ABCB5 + dermal mesenchymal stem cells (ABCB5 + MSCs) possess immunomodulatory, inflammation-dampening, and tissue-healing capacities. In a Col7a1 –/– mouse model of RDEB, treatment with ABCB5 + MSCs markedly extended the animals’ lifespans. METHODS In this international, multicentric, single-arm, phase I/IIa clinical trial, 16 patients (aged 4–36 years) enrolled into 4 age cohorts received 3 i.v. infusions of 2 × 10 6 ABCB5 + MSCs/kg on days 0, 17, and 35. Patients were followed up for 12 weeks regarding efficacy and 12 months regarding safety. RESULTS At 12 weeks, statistically significant median (IQR) reductions in the Epidermolysis Bullosa Disease Activity and Scarring Index activity (EBDASI activity) score of 13.0% (2.9%–30%; P = 0.049) and the Instrument for Scoring Clinical Outcome of Research for Epidermolysis Bullosa clinician (iscorEB‑c) score of 18.2% (1.9%–39.8%; P = 0.037) were observed. Reductions in itch and pain numerical rating scale scores were greatest on day 35, amounting to 37.5% (0.0%–42.9%; P = 0.033) and 25.0% (–8.4% to 46.4%; P = 0.168), respectively. Three adverse events were considered related to the cell product: 1 mild lymphadenopathy and 2 hypersensitivity reactions. The latter 2 were serious but resolved without sequelae shortly after withdrawal of treatment. CONCLUSION This trial demonstrates good tolerability, manageable safety, and potential efficacy of i.v. ABCB5 + MSCs as a readily available disease-modifying therapy for RDEB and provides a rationale for further clinical evaluation. TRIAL REGISTRATION Clinicaltrials.gov NCT03529877; EudraCT 2018-001009-98. FUNDING The trial was sponsored by RHEACELL GmbH & Co. KG. Contributions by NYF and MHF to this work were supported by the NIH/National Eye Institute (NEI) grants RO1EY025794 and R24EY028767.

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Orphanet journal of rare diseases · 2022

📚 30 citations🎯 RCR 4.27Top 10% NIH🔓 Open Access📄 PDF gratuit ↗

Lire l'abstract Crossref ↓

AbstractTurner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS;Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.

Cookies & analyse de trafic

MME Emmanuelle BOURRAT

Pourquoi vous devez consulter ce praticien

Activité de recherche & publications

Publications académiques en France

Lieux de consultation(2)

Tarifs & secteur de conventionnement

Prendre rendez-vous & contact

Top publications · les plus citées

Publications scientifiques (28) — classées par pathologie

Transversal11

Pédiatrie6

Essai clinique3

Anti-IL-171

Anti-IL-231

Arthrite juvénile1

Case report / série1

Corticothérapie1

Économie santé1

Épidémiologie & registres1

Fièvres auto-inflammatoires1

Revue / méta-analyse1

Revue générale1

Vraie vie / RWE1

Datasets & protocoles partagés

Partager cette fiche