433 results match your criteria: "Centre de Référence des Maladies Héréditaires du Métabolisme Tours[Affiliation]"
Colorectal Dis
March 2025
Nantes University, CHU Nantes, Inserm, Clinical Investigation Centre CIC1413, Nantes, France.
Aim: Bowel dysfunction following sphincter-preserving rectal resection for cancer, commonly referred to as low anterior resection syndrome (LARS), significantly impacts patients' quality of life. Preventing this condition is essential for healthcare teams. Postoperative pelvic floor rehabilitation, including anal biofeedback therapy, has shown potential in alleviating established LARS symptoms.
View Article and Find Full Text PDFRespir Res
March 2025
Univ. Lille, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000, Lille, France.
Background: The management of severe SARS-CoV-2 pneumonia, alongside logistical constraints, evolved between the first and subsequent COVID-19 waves. This study aimed to compare the prevalence of early bacterial pulmonary co-infections and the incidence of ventilator-associated lower respiratory tract infections (VA-LRTI) across the first and second waves of the pandemic, and to characterize their microbiology.
Methods: Latter part of a multicenter retrospective European cohort analysis conducted in 35 ICUs.
J Autoimmun
March 2025
Service de Médecine Interne, Centre de Référence Maladies Autoimmunes Systémiques Rares d'Ile de France, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; APHP-CUP, Hôpital Cochin, F-75014 Paris, Université Paris Cité, Paris.
Background: Total lung capacity (TLC) is seldom assessed in the prediction of systemic sclerosis (SSc) disease severity.
Objective: To describe and analyse TLC in SSc.
Methods: We performed a retrospective multicentre study of SSc patients enrolled in the French national SSc cohort with at least one TLC assessment, described patients based on baseline TLC measurements, modelized TLC trajectories in SSc, and associated TLC measures with disease prognosis.
J Hepatol
February 2025
AP-HP, Hôpital Paul Brousse, Unité d'Hépatologie, UMR-1193, FHU Hepatinov, Villejuif.
Background And Aims: The objective was to describe the dynamics of noninvasive tests (NITs) in cirrhotic patients following sustained virological response (SVR) and to assess their correlation with hepatocellular carcinoma (HCC) risk.
Methods: The dynamics of NITs (Fib4, APRI and LSM) were described in patients with cirrhosis after SVR included between 2006 and 2015 in two prospective French multicentre cohorts (ANRS CO22 Hepather and CO12 CirVir). To assess their relationship with the risk of HCC, a joint modeling approach was employed using both standard and flexible models adjusted for age and sex.
Mol Genet Metab Rep
March 2025
CHRU de Tours, Service de Médecine Interne, Centre de Référence des Maladies Héréditaires du Métabolisme Tours, France.
Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance with a "second wind" phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the gene the common c.
View Article and Find Full Text PDFEur J Cancer
February 2025
Service de Pneumologie, Hôpital Jean Minjoz, Besançon, France.
Introduction: Sotorasib has shown efficacy in a phase 3 trial compared to docetaxel among previously treated non-small cell lung cancer (NSCLC) patients with a KRAS G12C mutation. However, its real-world effectiveness and tolerance, especially post-immunotherapy, remain debated.
Methods: This French retrospective multicentre study analysed NSCLC patients receiving at least one dose of sotorasib as part of early access program The main objective was to assess real-world progression-free survival (rwPFS), and secondary objectives included assessment of overall survival (rwOS) and sotorasib-related hepatotoxicity.
Mol Genet Metab
March 2025
Fédération d'Endocrinologie, Maladies Métaboliques, Diabète, et Nutrition, Hôpital Louis Pradel, Hospices Civils de Lyon, 69677 Bron Cedex, France; Hospices Civils de Lyon, Centre de Référence Des Maladies Héréditaires du Métabolisme de Lyon, Groupement Hospitalier Est, 69677 Bron Cedex, France; CarMen Laboratory, INSERM, INRAE, Université Claude Bernard Lyon 1, 69310 Pierre Bénite, France. Electronic address:
Phenylketonuria (PKU) treatment requires a low-phenylalanine (Phe) diet limiting natural protein intake, using medical low-protein foods and Phe-free amino acids (AA) supplements along with micronutriments' supplies. Current recommendations suggest maintaining this diet for life to prevent neuro-psychological effects of high Phe concentrations. The long-term consequences of such a diet are poorly understood, particularly on bone health.
View Article and Find Full Text PDFEur Respir J
March 2025
Service de Pneumologie et d'Oncologie Thoracique et Centre Constitutifs Maladies Pulmonaires Rares, Hôpital Tenon, AP-HP Sorbonne Université and OrphaLung, Centre National Constitutif de Référence des Maladies Pulmonaires Rares, Paris, France
Background: Recurrent respiratory papillomatosis (RRP) is a rare respiratory disease primarily caused by chronic human papillomavirus (HPV) infection of serotypes 6 and 11. It manifests in childhood (juvenile-onset recurrent respiratory papillomatosis (JoRRP)) and adulthood (adult-onset recurrent respiratory papillomatosis (AoRRP)), leading to progressive obstruction by papillomas in the upper airway and occasionally in the lower respiratory tract (LRT), including the lungs, with a potential for malignant transformation. This study aimed to delineate the characteristics of JoRRP and AoRRP with LRT involvement in adulthood.
View Article and Find Full Text PDFNat Commun
January 2025
Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.
Autoimmune liver diseases (AILD) involve dysregulated CD4 T cell responses against liver self-antigens, but how these autoreactive T cells relate to liver tissue pathology remains unclear. Here we perform single-cell transcriptomic and T cell receptor analyses of circulating, self-antigen-specific CD4 T cells from patients with AILD and identify a subset of liver-autoreactive CD4 T cells with a distinct B-helper transcriptional profile characterized by PD-1, TIGIT and HLA-DR expression. These cells share clonal relationships with expanded intrahepatic T cells and exhibit transcriptional signatures overlapping with tissue-resident T cells in chronically inflamed environments.
View Article and Find Full Text PDFRMD Open
January 2025
Assistance Publique-Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Centre de Référence des maladies auto-immunes et auto-inflammatoires systémiques rares de l'adulte d'Ile-de-France, Centre et Martinique, Service de Médecine Interne 2, Institut E3M, Paris, France, paris, France.
BJOG
April 2025
Service de Médecine Interne, Centre de référence Des Maladies Auto-Immunes et Auto-Inflammatoires systémiques Rares d'Ile-de-France, de l'Est et de l'Ouest, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP)-Université Paris Cité, Paris, France.
Objective: To assess safety of fertility treatments in women with systemic lupus erythematosus (SLE).
Design: Data from the multicentre French observational GR2 (Groupe de Recherche sur la Grossesse et les Maladies Rares) study (2014-ongoing).
Setting: Seventy-six centres in France.
J Fr Ophtalmol
December 2024
Department of Biochemistry, Bretonneau University Hospital, Tours, France; Université de Tours, Inserm, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours, France.
J Neurol
December 2024
Service de Médecine Interne, Centre de Référence Des Maladies Héréditaires du Métabolisme, UMR INSERM 1253 « iBraiN », Université de Tours, CHU de Tours, Tours, France.
Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).
Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%).
Eur J Haematol
March 2025
CRH, CRC-MHC (Centre de Référence de l'Hémophilie, Centre de Ressource et de Compétence Des Maladies Hémorragiques Constitutionnelles), University Hospital, Rennes, France.
Objectives: To assess the real-world efficacy and safety of recombinant factor IX albumin fusion protein (rIX-FP) in patients with hemophilia B (HB) in France.
Methods: Data on dosing frequency, weekly consumption, and bleeds before-and-after switching to rIX-FP, were collected from December 2021 to February 2024. Annualized (spontaneous) bleeding rates [A(s)BRs] were calculated only in patients on prophylaxis with a follow-up ≥ 6 months.
J Mycol Med
December 2024
Laboratoire de Parasitologie-Mycologie, Hôpital Européen Georges Pompidou, Hôpital Universitaire Necker, Unité de Parasitologie-Mycologie, Service de Microbiologie, Paris, France. Electronic address:
This study investigates the diagnostic practices for mucormycosis among 30 French University Hospital mycology laboratories, in 2024. All laboratories perform both direct examination and culture, with fluorescent brighteners being the most commonly used method for direct examination. While 77 % of the participating laboratories routinely identify Mucorales to the species level, with 70 % having adopted Mucorales-specific quantitative PCR, primarily for the diagnosis of invasive fungal infections.
View Article and Find Full Text PDFLancet Gastroenterol Hepatol
December 2024
Université Paris-Cité, Inserm, Centre de recherche sur l'inflammation, UMR 1149, Paris, France; Faculté de médecine de Tours, et service d'hépato-gastroentérologie, CHRU de Tours, ERN RARE-LIVER, Tours, France.
Am J Obstet Gynecol
October 2024
Department of Obstetrics and Gynecology, Bordeaux University Hospital, Bordeaux, France. Electronic address:
J Neurol Neurosurg Psychiatry
October 2024
Filière nationale, FILNEMUS, France.
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.
Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.
BMJ Open
October 2024
Médecine Intensive Réanimation, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.
Introduction: First-line oxygenation strategy in patients with acute hypoxaemic respiratory failure consists in standard oxygen or high-flow nasal oxygen therapy. Clinical practice guidelines suggest the use of high-flow nasal oxygen rather than standard oxygen. However, findings remain contradictory with a low level of certainty.
View Article and Find Full Text PDFSci Rep
October 2024
Nantes Université, CHU Nantes, INSERM, Centre de Recherche Translationnelle en Transplantation et Immunologie, UMR 1064, F-44000, Nantes, France.
Lancet Infect Dis
March 2025
Virology Department, Hôpital Ambroise Paré, Paris, France. Electronic address:
Lancet Microbe
November 2024
Centre Hospitalo-Universitaire Régional de Tours, Department of Parasitology-Mycology-Tropical Medicine, Tours, France. Electronic address:
Clin Microbiol Infect
December 2024
OUTCOMEREA Research Group, Drancy, France; Institut National de la Santé et de la Recherche Medicale, Infection Antimicrobial Modelisation Evolution, U1137, Team Decision Science in Infectious Diseases, Paris, France; Assistance Publique Hôpitaux de Paris, Bichat hospital, Medical and infectious diseases ICU, F75018, Paris France. Electronic address:
J Eur Acad Dermatol Venereol
September 2024
Department of Dermatology, Nantes Université, CHU Nantes, Nantes, France.
Am J Hematol
November 2024
French Reference Center for Mastocytosis (CEREMAST), Necker-Enfants Malades University Hospital, APHP, Paris, France.