644 results match your criteria: "Necker-Enfants Malades University Hospital[Affiliation]"
mBio
December 2024
Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York, USA.
The alphavirus chikungunya virus (CHIKV) is a serious human pathogen that can cause large-scale epidemics characterized by fever and joint pain and often resulting in chronic arthritis. Infection by alphaviruses including CHIKV and the closely related Semliki Forest virus (SFV) can induce the formation of filopodia-like intercellular long extensions (ILEs). ILEs emanate from an infected cell, stably attach to a neighboring cell, and mediate cell-to-cell viral transmission that is resistant to neutralizing antibodies.
View Article and Find Full Text PDFKidney Int Rep
December 2024
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective of these guidelines was to develop clinical practice recommendations focusing on specific aspects of the kidney management of this disease.
View Article and Find Full Text PDFJ Clin Immunol
December 2024
Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
Purpose: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. Effective transition is crucial to improve health outcomes and treatment compliance among patients. Evaluations of existing transition programmes in European health centres identified the absence of disease-specific transition guidelines for PID and AID, as a challenge to the transition process.
View Article and Find Full Text PDFJ Exp Med
February 2025
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).
View Article and Find Full Text PDFCurr 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.
View Article and Find Full Text PDFGenet Med
December 2024
IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France. Electronic address:
Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.
View Article and Find Full Text PDFInt J Infect Dis
December 2024
Centre d'Investigation Clinique Antilles Guyane Inserm CIC1424, Centre Hospitalier de Cayenne, Cayenne, French Guiana; DFR Santé, Université de Guyane, Cayenne, French Guiana; CRB Amazonie, Centre Hospitalier de Cayenne, Cayenne, French Guiana.
Background: Diagnosis of HIV-associated histoplasmosis remains challenging. Our objective was to compare the performances of (1→3)-β-D-Glucan (BDG) and Aspergillus galactomannan (GM) antigen for the diagnosis of HIV-associated histoplasmosis.
Methods: We performed a diagnostic accuracy study using frozen primary serum specimens issued from consecutive hospitalized people living with HIV (PLWH) and blindly tested for BDG and GM using Fungitell® and PlateliaTM Aspergillus, respectively.
Epilepsy Behav
December 2024
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Full Member of EPICARE European Reference Network for Rare and Complex Epilepsies, Université Paris Cité, Paris, France; Dravet Syndrome Alliance France, 3 Sent. Des Larris 45330, Le Malesherbois, France; Imagine Institute, Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Paris, France. Electronic address:
RMD Open
December 2024
Sorbonne Université Service de médecine interne, AP-HP, Hôpital Saint Antoine, Paris, France.
Objective: We aimed to assess the prevalence of clonal haematopoiesis (CH) in patients with giant cell arteritis (GCA) compared with controls and individuals with other autoimmune diseases (AIDs) and to identify high-risk clinical/genetic profiles that could influence disease outcomes.
Methods: In a prospective observational study at three hospitals, we included 49 patients diagnosed with GCA, 48 patients with other AIDs and 27 control participants. We used next-generation sequencing to detect clonal haematopoiesis (CH) among them.
Acta Paediatr
December 2024
Department of Neonatology, Necker-Enfants Malades University Hospital, APHP, Paris, France.
Mucosal Immunol
November 2024
Laboratory of Pediatrics, Division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address:
Nat Microbiol
December 2024
Biology of Infection Unit, Institut Pasteur, Université Paris Cité, Inserm U1117, Paris, France.
Microbial pathogenesis is mediated by the expression of virulence genes. However, as microbes with identical virulence gene content can differ in their pathogenic potential, other virulence determinants must be involved. Here, by combining comparative genomics and transcriptomics of a large collection of isolates of the model pathogen Listeria monocytogenes, time-lapse microscopy, in vitro evolution and in vivo experiments, we show that the individual stress responsiveness of L.
View Article and Find Full Text PDFJ Clin Immunol
November 2024
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.
Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.
View Article and Find Full Text PDFBr J Ophthalmol
November 2024
Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, 149 Rue de Sèvres, 75015 Paris, France, Paris, France.
J Exp Med
December 2024
Section of Paediatric Infectious Disease, Department of Infectious Disease, Faculty of Medicine, Imperial College London, London, UK.
J Epidemiol Popul Health
December 2024
Department of Ophthalmology, Grenoble Alpes University Hospital, Grenoble, France; French Council of University Ophthalmologists (COUF), Paris, France; University Grenoble Alpes, HP2 Laboratory, INSERM U1300, Grenoble, France. Electronic address:
Aims: To describe pediatric ophthalmology surgery activity in private or public practice in metropolitan France in 2016 and to anticipate training needs in surgical pediatric ophthalmology.
Methods: We used the French National Health Care System database to identify all pediatric ophthalmology surgical procedures performed in 2016. The study included all children aged ≤14 years who had undergone ophthalmologic surgery.
Eye (Lond)
November 2024
Department of Ophthalmology, Necker-Enfants malades University Hospital, AP-HP, Paris, France.
The pathophysiology of optic disc drusen (ODD) has long been discussed. According to one leading theory, they develop from calcified mitochondria extruded from axons compressed by an unusually small scleral canal. To examine this hypothesis, we conducted a systematic review and meta-analysis evaluating the scleral canal size in patients with ODD (PO) in comparison to healthy subjects (HS).
View Article and Find Full Text PDFIntroduction: Real-world data from multinational observational studies are required to better understand the role and performance of isavuconazole in real-world practice in Europe.
Methods: A retrospective medical record review was conducted at 16 sites in Europe (France, Germany, Italy, Spain, and the United Kingdom). Eligible records were from patients aged ≥ 18 years at the time of isavuconazole initiation and received at least one dose of isavuconazole for suspected or confirmed invasive aspergillosis (IA) or invasive mucormycosis (IM) during the eligibility period (October 15, 2015 to June 30, 2019).
Eur J Med Genet
December 2024
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France; Imagine Institute, Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Paris, France.
Biallelic pathogenic variants in CNTNAP2, a gene encoding the contactin-associated protein-like 2, have been reported in patients with various clinical presentations including intellectual disability (ID), autistic spectrum disorders (ASD), psychiatric disorders, and focal epilepsy rarely associated to focal cortical dysplasia. We report four children carrying novel biallelic CNTNAP2 pathogenic variants. They present global developmental delay, psychiatric disorders, and focal epilepsy.
View Article and Find Full Text PDFLancet Child Adolesc Health
December 2024
French Center for Pediatric Stroke, Necker-Enfants Malades University Hospital, 75015 Paris; Inserm U1266, France. Electronic address:
Lancet Microbe
November 2024
Centre Hospitalo-Universitaire Régional de Tours, Department of Parasitology-Mycology-Tropical Medicine, Tours, France. Electronic address:
Am J Med
October 2024
Institut Pasteur, Centre Medical, Centre d'Infectiologie Necker-Pasteur, Paris, France.
Arch Pediatr
September 2024
Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants malades University Hospital, AP-HP Centre, Paris 75015, France.
Mucosal Immunol
September 2024
Laboratory of Pediatrics, Division Gastroenterology and Nutrition, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address:
Inflammatory bowel disease (IBD) chronicity results from memory T helper cell (Tmem) reactivation. Identifying patient-specific immunotypes is crucial for tailored treatment. We conducted a comprehensive study integrating circulating immune proteins and circulating Tmem, with intestinal tissue histology and mRNA analysis, in therapy-naïve pediatric IBD (Crohn's disease, CD: n = 62; ulcerative colitis, UC: n = 20; age-matched controls n = 43), and after 10-12 weeks' induction therapy.
View Article and Find Full Text PDFAm J Hematol
December 2024
Department of Pediatric Hematology and oncology, Nantes University Hospital, Nantes, France.