6,638 results match your criteria: "Assistance Publique Hôpitaux de Marseille; Aix-Marseille Université[Affiliation]"

A clinician viewpoint on the 2024 European guidelines on the management of patients with atrial fibrillation.

Arch Cardiovasc Dis

December 2024

Inserm ICAN 1166, Hôpitaux de l'est parisien (Saint-Antoine-Tenon), AP-HP, Sorbonne Université, 184, Faubourg-Saint-Antoine, 75571 Paris cedex, France.

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Background And Aims: Unsuccessful first-line conservative treatments for managing fecal incontinence (FI) lead to considering predominantly invasive options, posing challenges in terms of cost and patient acceptance of benefit/risk ratio. Recent data from a prospective randomized study have highlighted intramural rectal botulinum toxin (BoNT/A) injection as a promising minimally invasive alternative for urge FI, demonstrating efficacy at 3 months but lacking long-term evidence. This study aimed to evaluate the sustained efficacy and injection frequency of intramural rectal BoNT/A injection in the treatment of urge FI.

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Epidemiological and genetic characteristics of clinical carbapenemase-producing Enterobacterales isolates from Batna hospitals in Algeria.

BMC Infect Dis

December 2024

Laboratoire de Biotechnologie des Molécules Bioactives et de la Physiopathologie Cellulaire (LBMBPC), Faculté des sciences de la Nature et de la vie, Université Batna 2, Batna, Algérie.

Background: Carbapenemase-producing Enterobacterales isolates are associated with significant mortality and have emerged as a major problem in healthcare settings worldwide.

Objective: Our aim was to investigate the epidemiological and genotypic characteristics of carbapenemase-positive Enterobacterales isolates from patients hospitalised in three hospitals in the city of Batna, Algeria.

Methods: Between 2016 and 2019, a total of 5,316 clinical isolates were obtained.

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Challenging the narrative of alport syndrome spectrum: no link with cystic phenotype.

Nephrol Dial Transplant

December 2024

Centre de Néphrologie et transplantation rénale, Assistance publique-Hôpitaux de Marseille, La Conception Hospital, Marseille, France.

Background: Alport Syndromes (AS) are the second leading genetic cause of Kidney Failure (KF). Whether multiple kidney cysts (MKC) phenotype belongs to the AS spectrum remains debated.

Methods: This multicenter retrospective study focused on patients genotyped with pathogenic COL4A3, COL4A4, or COL4A5 variants (classified as ACMG-AMP 4 or 5) between January 2011 and January 2023 across four French university hospitals.

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Context: Mucopolysaccharidosis (MPS) requires urgent treatment to prevent neurological damage. While gene therapy holds promise for effectively treating these diseases with minimal toxicity, access remains limited for most patients. Consequently, advancing allogeneic hematopoietic stem cell transplantation (HSCT) for young children is crucial.

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Background: Valoctocogene roxaparvovec, an adeno-associated virus-mediated gene therapy for severe hemophilia A, enables endogenous factor (F)VIII expression and provides bleed protection.

Objectives: Determine valoctocogene roxaparvovec durability, efficacy, and safety 4 years after treatment.

Methods: In the phase 3 GENEr8-1 trial, 134 adult male persons with severe hemophilia A without inhibitors and previously using FVIII prophylaxis received a 6 × 10 vg/kg infusion of valoctocogene roxaparvovec.

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Background: Prophylactic cranial irradiation (PCI) is recommended to decrease the incidence of brain metastases (BM) in extensive-stage small-cell lung cancer (ESSCLC) without BM after response to chemotherapy. However, PCI is associated with significant neurocognitive effects, and new studies are debating its benefits. Moreover, the introduction of immunotherapy in the management of the disease has raised new questions, and there is a lack of data on PCI and immunotherapy.

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How hyperkalemia affects the heart: clinical implications.

Nephrol Dial Transplant

December 2024

Service de Soins Intensifs Néphrologiques et Rein Aigu (SINRA), French Intensive Renal Network, Tenon Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

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Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder often associated with drug-resistant epilepsy. The epileptogenic zone network (EZN) in PVNH is generally large, contraindicating surgery. Stereoelectroencephalography (SEEG) can be proposed to map the EZN and perform radiofrequency thermocoagulation (THC) with an efficacy rate of approximately 65%.

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CSNK2B Mutation: A Rare Cause of IGHD.

Clin Endocrinol (Oxf)

December 2024

Aix Marseille Univ, APHM, INSERM, MMG, UMR 1251, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, Marseille, France.

Objective: Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability. More recently, CSNK2B pathogenic variants have been reported in patients with mild intellectual disability and no history of epileptic symptoms.

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Screening and care for preclinical stage 1-2 type 1 diabetes in first-degree relatives: French expert position statement.

Diabetes Metab

December 2024

Université Paris Cité, Institut Cochin, CNRS, INSERM, Paris, France; Assistance Publique Hôpitaux de Paris, Université Paris Cité, Service d'Endocrinologie, Gynécologie et Diabétologie Pédiatrique, Necker Hospital, Paris, France.

The natural history of type 1 diabetes (T1D) evolves from stage 1 (islet autoimmunity with normoglycemia; ICD-10 diagnostic code E10.A1) to stage 2 (autoimmunity with dysglycemia; E10.A2) and subsequent clinical stage 3 (overt hyperglycemia), which is commonly the first time of referral.

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Vaccine policies in France and Europe.

Curr Opin Immunol

December 2024

CERMES3 (INSERM, CNRS, EHESS, Université de Paris), Villejuif, France.

This review outlines the outcome of the COVID-19 vaccination campaign in France and assesses the respective roles of information and coercion in its overall success. These data are then put into perspective of the evolution of vaccination acceptance in France.

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Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.

Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.

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Background: Patients with atopic dermatitis (AD) may discontinue dupilumab owing to dupilumab-induced ocular adverse events (DOAEs) or dupilumab-induced facial redness (DFR).

Objective: To evaluate DOAE and DFR outcomes after switching to tralokinumab or Janus kinase inhibitor (JAKi).

Methods: This retrospective study included 106 patients discontinuing dupilumab because of DOAEs and/or DFR.

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Fibrosis is one of the key healing responses to injury, especially within the heart where it helps to maintain structural integrity following acute insults such as myocardial infarction. However, if it becomes dysregulated then fibrosis can become maladaptive leading to adverse remodelling, impaired cardiac function and heart failure. Fibroblast activation protein is exclusively expressed by activated fibroblasts, the key effector cells of fibrogenesis, and has a unique extracellular domain that is an ideal ligand for novel molecular imaging probes.

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BackgroundWithin the International Health Regulations framework, the French High Council for Public Health was mandated in 2022 by health authorities to establish a list of priority infectious diseases for public health, surveillance and research in mainland and overseas France.AimOur objective was to establish this list.MethodsA multi-criteria decision analysis was used, as recommended by the European Centre for Disease Prevention and Control.

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Efficacy and Safety of Obinutuzumab in Immune-Mediated Thrombotic Thrombocytopenic Purpura.

Am J Hematol

December 2024

Centre de Référence Des Microangiopathies Thrombotiques, Service d'hématologie, Hôpital Saint Antoine, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France.

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Objectives: To evaluate the impact of a quality improvement initiative on intraoperative lymph node (LN) dissection adequacy.

Methods: A single-centre cohort of 781 naïve patients who underwent resection of non-small cell lung cancer with pathological LN involvement and survived beyond 90 days was reviewed. LN dissection metrics were compared before and after the implementation of a quality improvement initiative.

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Cryoglobulinemia - One Name for Two Diseases.

N Engl J Med

December 2024

Assistance Publique-Hôpitaux de Marseille, Marseille, France

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DBI/ACBP is a phylogenetically ancient hormone that stimulates appetite and lipo-anabolism. In response to starvation, DBI/ACBP is secreted through a noncanonical, macroautophagy/autophagy-dependent pathway. The physiological hunger reflex involves starvation-induced secretion of DBI/ACBP from multiple cell types.

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Aim: This study aimed to investigate temporal changes in smoking prevalence among adolescents aged 13-15 across 23 countries and to assess individual and country-level factors influencing smoking behaviour.

Methods: This study used data from 168 286 young adolescents aged 13-15 years obtained from the Global School-based Student Health, 2003-2021. Linear regression models and meta-analyses were conducted to analyse the changes in current smoking prevalence among young adolescents.

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Background And Aims: Systemic sclerosis (SSc) is an autoimmune connective disease characterised by excessive extracellular matrix deposition and widespread skin and internal organ fibrosis including various cardiac manifestations. Heart involvement is one of the leading causes of death among patients with SSc. In this study, we aimed to assess the effect of various vasodilator treatments.

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Hereditary angioedema in children: Review and practical perspective for clinical management.

Pediatr Allergy Immunol

December 2024

French National Reference Center for Angioedema (CREAK), Center of Excellence and Reference (ACARE), Internal Medicine Department, Grenoble Alpes University Hospital, Grenoble, France.

Background: Hereditary angioedema (HAE) in children has specific features and requires multidisciplinary management.

Methods: We performed a literature search and underwent in-depth discussions to provide practical tools for physicians.

Results: HAE is a rare, life-threatening genetic disorder.

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