433 results match your criteria: "Centre de Référence des Maladies Héréditaires du Métabolisme Tours[Affiliation]"

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.

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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.

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Total lung capacity is predictive of disease severity and survival in systemic sclerosis: A longitudinal analysis in 2347 patients from the French National Cohort Study.

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.

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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.

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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.

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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.

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Bone mineral density in French adults with early-treated phenylketonuria.

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.

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Recurrent respiratory papillomatosis in adults with lower respiratory tract involvement: a retrospective study of the OrphaLung and GETIF networks.

Eur 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.

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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.

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Efficacy of valaciclovir in preventing herpes zoster in patients receiving anifrolumab.

RMD 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.

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Safety of Fertility Treatments in Women With Systemic Lupus Erythematosus: Data From a Prospective Population-Based Study.

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.

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Homocystinuria in a 14-year-old girl with neurodevelopmental delay.

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.

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Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

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%).

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ORPHEE: A Real-World Study on rIX-FP Prophylaxis Use in Adolescent/Adult Patients With Hemophilia B.

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.

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Laboratory practices for the diagnosis and management of mucormycosis in France, 2024.

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.

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Management of portal vein thrombosis in cirrhosis - Authors' reply.

Lancet 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.

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Article Synopsis
  • * Of the women surveyed, 63% responded, revealing a postpartum depression prevalence of 16.4% when using a specific scoring scale (EPDS score of 13 or higher), which rose to 23.1% with a slightly lower cutoff (score of 11 or higher).
  • * Key risk factors identified included younger maternal age and being born in a non-European country, highlighting the need for tailored support and interventions for at-risk populations after cesarean delivery.
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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.

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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.

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Article Synopsis
  • Relapse after stopping immunosuppression treatment is common in Autoimmune Hepatitis (AIH) patients, and there's a need for better non-invasive biomarkers to predict this risk.
  • The study analyzed blood samples from 58 active AIH patients, 56 in remission, and 31 with NASH, focusing on the levels of activated T cell subsets and the cytokine BAFF.
  • Results showed that increased frequencies of certain activated T cells and high BAFF levels in remission patients were strongly linked to a higher chance of relapse after treatment withdrawal, suggesting these could serve as useful biomarkers for monitoring AIH.
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Article Synopsis
  • A study conducted in France during the 2023-24 RSV season analyzed the effectiveness of nirsevimab, a monoclonal antibody, in preventing RSV infections in infants, focusing on breakthrough cases.
  • Out of 695 RSV-infected infants, researchers sequenced the full-length RSV genome of 545 infants, identifying that 48% had breakthrough infections despite receiving nirsevimab.
  • While no resistance was found in RSV-A infections from nirsevimab-treated infants, two cases of RSV-B showed substitutions linked to resistance, indicating a potential concern for the antibody's effectiveness against this variant.
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Article Synopsis
  • * This study analyzed cases of C bantiana infections in France and its territories, involving patients who were diagnosed through a comprehensive surveillance program, focusing on survival rates and the presence of central nervous system (CNS) involvement.
  • * Out of 23 patients identified from 2002 to 2022, 65% had CNS involvement, with a notable increase in cases reported in 2022, indicating a possible correlation with environmental factors like rising temperatures.
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Effect of adequacy of empirical antibiotic therapy for hospital-acquired bloodstream infections on intensive care unit patient prognosis: a causal inference approach using data from the Eurobact2 study.

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:

Article Synopsis
  • Hospital-acquired bloodstream infections (HA-BSI) in ICU patients can be life-threatening, and this study aimed to see how early adequate antibiotic treatment affects 28-day mortality rates for patients who survive at least one day after infection onset.
  • Using data from a multicenter study with 2,418 patients, researchers found that those who received adequate treatment within 24 hours had a lower 28-day mortality rate (32.8%) compared to those who were inadequately treated (40%).
  • The study concluded that inadequate antibiotic therapy within 24 hours contributes significantly to 28-day mortality, indicating that quicker treatment could greatly improve patient outcomes in cases of HA-BSI.
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Article Synopsis
  • Advanced systemic mastocytosis (AdvSM) is a complex condition linked to poor outcomes, and while midostaurin is the first approved treatment, its long-lasting effectiveness is limited.
  • Various prognostic scoring systems like MARS, IPSM, and GPSM have been developed to assess patients' outcomes, but it's essential to tailor these scores to specific AdvSM subtypes for better accuracy.
  • A study of patients treated with midostaurin revealed that MARS and AdvSM subtype significantly predict overall survival, identifying five distinct patient subgroups with varying median survival times, highlighting the need for personalized management strategies.
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