647 results match your criteria: "Necker Enfants Malades University Hospital[Affiliation]"
Kidney Int
May 2024
Pediatric Nephrology, Reference Center for Idiopathic Nephrotic Syndrome in Children and Adults, Necker - Enfants Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Cité University, Paris, France. Electronic address:
In the current issue of Kidney International, Sinha et al. present data from an open-label, noninferior, randomized controlled trial comparing 12-months of alternate-day prednisolone, given daily during infection, versus levamisole, in children with frequently relapsing or steroid-dependent nephrotic syndrome. This study suggests that both of these strategies are efficacious and safe.
View Article and Find Full Text PDFNeurol Genet
April 2024
From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
Background And Objectives: Hexokinase 1 (encoded by ) catalyzes the first step of glycolysis, the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic variants causing a neurodevelopmental disorder (NDD) have been reported in 12 individuals.
Methods: We investigated clinical phenotypes, brain MRIs, and the CSF of 15 previously unpublished individuals with monoallelic variants and an NDD phenotype.
Paediatr Respir Rev
April 2024
Pediatric Non-invasive Ventilation and Sleep Unit AP-HP, Necker Enfants Malades University Hospital, 149 rue de Sèvres, 75015 Paris, France; Paris Cité University, EA 7330 VIFASOM, Paris, France.
There is an increasing demand for the assessment of sleep-disordered breathing in children of all ages to prevent the deleterious neurocognitive and behaviour consequences of the under-diagnosis and under-treatment of obstructive sleep apnoea [OSA]. OSA can be considered in three broad categories based on predominating contributory features: OSA type 1 [enlarged tonsils and adenoids], type II [Obesity] and type III [craniofacial abnormalities, syndromal, storage diseases and neuromuscular conditions]. The reality is that sleep questionnaires or calculations of body mass index in isolation are poorly predictive of OSA in individuals.
View Article and Find Full Text PDFLancet Infect Dis
July 2024
Listeria National Reference Center and WHO Collaborating Center, Institut Pasteur, Paris, France; Antibiotic stewardship team, Department of Infectious Diseases and Tropical Medicine, Cochin Port-Royal University Hospital, APHP, Paris, France; Biology of Infection Unit, Institut Pasteur, Université Paris Cité, Inserm U1117, Paris, France; Université Paris Cité, Paris, France. Electronic address:
Epilepsia
June 2024
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades University Hospital, APHP, Member of European Reference Centre EpiCARE, Institut Imagine, INSERM, UMR 1163, Université Paris Cité, Paris, France.
Acta Ophthalmol
August 2024
Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France.
Clin Microbiol Infect
July 2024
Université Paris Cité, Department of Infectious Diseases and Tropical Medicine, Necker - Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), IHU Imagine, 75014 Paris, France; Mycology Department, Institut Pasteur, Université Paris Cité, National Reference Center for Invasive Mycoses and Antifungals, Mycology Translational Research Group, France.
Objectives: We aimed to describe features and outcomes of cryptococcosis among HIV-seronegative individuals in a large surveillance network for cryptococcosis in France.
Methods: We included incident cases of cryptococcosis in HIV-seronegative individuals from 2005 to 2020. We compared patient characteristics, disease presentations, cryptococcal antigen results, and induction antifungal treatments according to underlying disease.
Curr Opin Clin Nutr Metab Care
May 2024
Department of Neonatal Intensive Care, Oslo University Hospital, Oslo, Norway.
Purpose Of Review: For many decades, docosahexaenoic acid (DHA) supplementation was tested in premature infants to achieve an intake equivalent to the average level in breast milk, but this approach has led to conflicting results in terms of development and health outcomes. Higher doses of DHA closer to fetal accumulation may be needed.
Recent Findings: The efficacy of DHA supplementation for preterm infants at a dose equivalent to the estimated fetal accumulation rate is still under investigation, but this may be a promising approach, especially in conjunction with arachidonic acid supplementation.
mBio
May 2024
Institut Pasteur, Université Paris-Cité, UMR CNRS 6047, Genetics of Biofilms Laboratory, Department of Microbiology, Paris, France.
is a prominent member of the human gut microbiota contributing to nutrient exchange, gut function, and maturation of the host's immune system. This obligate anaerobe symbiont can adopt a biofilm lifestyle, and it was recently shown that biofilm formation is promoted by the presence of bile. This process also requires a extracellular DNase, which is not, however, regulated by bile.
View Article and Find Full Text PDFMed Mycol
March 2024
Parasitology-Mycology, University Hospital of Besançon, Besançon, France.
Our objective was to determine whether the twice-weekly screening of high-risk hematology patients by Mucorales qPCR on serum affects the prognosis of mucormycosis. Results from all serum Mucorales qPCR tests performed on patients from the hematology unit from January 2017 to December 2022 were analyzed. Patients with positive results were classified as having proven, probable or 'PCR-only' mucormycosis.
View Article and Find Full Text PDFHaematologica
August 2024
Department of Hematology and Bone Marrow Transplantation, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; French Reference Center for Aplastic Anemia, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris.
Neuro Oncol
July 2024
Department of Children and Adolescents Oncology, Gustave Roussy, Paris-Saclay University, Villejuif, France.
Background: Optic pathway gliomas (OPGs) represent 5% of childhood brain tumors. Successive relapses lead to multiple treatments exposing to late complications.
Methods: We included patients treated at Gustave Roussy (GR) between January 1980 and December 2015 for OPG, before 18 years old and alive at 5 years from diagnosis.
Front Pediatr
February 2024
CEREMAIA, Pediatric Rheumatology, Bicêtre University Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin Bicêtre, France.
Introduction: Multisystemic inflammatory syndrome in children (MIS-C) is a therapeutic emergency and can lead to myocardial dysfunction (17%-75%) and heart failure (52%-53%). Intravenous immunoglobulins (IVIG) and corticosteroids (CST) have been validated for the management of this condition. Recent reports suggest that an interleukin-1 (IL-1) receptor antagonist, namely anakinra, may be a valuable add-on to the 2019 novel coronavirus disease (COVID-19) treatment for refractory patients.
View Article and Find Full Text PDFJ Inherit Metab Dis
July 2024
Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth defects. Sapropterin dihydrochloride helps maintain blood Phe control, but there is limited evidence on its risk-benefit ratio when used during pregnancy.
View Article and Find Full Text PDFEur J Pediatr
May 2024
Neonatal Intensive Care Unit, APHP Necker-Enfants Malades University Hospital, Paris, France.
To characterize the neonatal hemodynamic profiles in recipients born after twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic selective laser coagulation (FSLC). Retrospective analysis during the first month of life of recipient twins. Of the 480 newborns born during an 11-year period, 138 recipient twins with prenatal FSLC were classified into four groups: no hemodynamic impairment (NoHI, n = 102, 74%), isolated high blood pressure (HighBP, n = 18, 13%), right ventricular outflow tract obstruction (RVOTO, n = 10, 7%), and cardiac failure (CF, n = 8, 6%).
View Article and Find Full Text PDFAm J Hum Genet
March 2024
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy.
The Rab family of guanosine triphosphatases (GTPases) includes key regulators of intracellular transport and membrane trafficking targeting specific steps in exocytic, endocytic, and recycling pathways. DENND5B (Rab6-interacting Protein 1B-like protein, R6IP1B) is the longest isoform of DENND5, an evolutionarily conserved DENN domain-containing guanine nucleotide exchange factor (GEF) that is highly expressed in the brain. Through exome sequencing and international matchmaking platforms, we identified five de novo variants in DENND5B in a cohort of five unrelated individuals with neurodevelopmental phenotypes featuring cognitive impairment, dysmorphism, abnormal behavior, variable epilepsy, white matter abnormalities, and cortical gyration defects.
View Article and Find Full Text PDFPediatr Res
February 2024
Department of Neonatology, APHP, Necker-Enfants Malades University Hospital, EHU 7328 Paris Cite University Paris, Paris, France.
Perinatal nutritional factors may lead to decreased nephron endowment, decreased kidney function, and long-term development of chronic kidney disease and non-communicable diseases. At the same time, optimal postnatal nutrition and catch-up growth are associated with better neurodevelopmental outcomes in preterm infants. Therefore, nutritional management of preterm infants is a major challenge for neonatologists.
View Article and Find Full Text PDFJ Infect
March 2024
Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Département des Maladies Infectieuses et Tropicales, F-69004 Lyon, France; Université Claude Bernard Lyon 1, CIRI, INSERM U1111, CNRS UMR5308, ENS Lyon, F-69372 Lyon, France.
Lancet Reg Health Eur
February 2024
Institut Pasteur, National Reference Centre and WHO Collaborating Centre Listeria, 75015, Paris, France.
Background: Large-scale studies are needed to clarify antimicrobial resistance in the foodborne pathogen () and the effectiveness of listeriosis treatment options. Here we examined the antimicrobial resistance patterns in over time and assessed genotype-phenotype concordances.
Methods: We analyzed 5339 isolates (2908 clinical and 2431 food isolates) collected in France and overseas territories, between 2012 and 2019.
Front Cardiovasc Med
January 2024
College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.
Kidney Int Rep
February 2024
Necker Enfants Malades University Hospital, APHP; Imagine Institute, Paris, France.
Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ. Although cystinosis was once considered a fatal pediatric disease, patients with cystinosis are living well into adulthood with advances in medical care, including kidney transplant and early and continuous use of cysteamine therapy.
View Article and Find Full Text PDFOpen Forum Infect Dis
February 2024
Department of Infectious Diseases and Tropical Medicine, Université Paris Cité, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Institut Hospitalo-Universitaire Imagine, Paris, France.
Among 1107 cryptococcosis cases from the French surveillance network (2005-2020), the proportion of HIV-seronegative individuals has recently surpassed that of HIV-seropositive individuals. We observed marked differences in patient characteristics, disease presentations, cryptococcal antigen results, infecting species, and mortality according to HIV serostatus.
View Article and Find Full Text PDFLupus
April 2024
General Paediatrics, Department of Infectious Disease and Internal Medicine, Robert Debré Mother-Child University Hospital, Reference Centre for Rheumatic, AutoImmune and Systemic Diseases in Children (RAISE), AP-HP, Paris, France.
Med Phys
May 2024
Radiology Department, APHP Bicêtre, Le Kremlin-Bicêtre, Paris, France.
Background: Radiation exposure from interventional radiology (IR) could lead to potential risk of skin injury in patients. Several dose monitoring software like radiation dose monitor (RDM) were developed to estimate the patient skin dose (PSD) distribution in IR.
Purpose: This study benchmarked the accuracy of RDM software in estimating PSD as compared to GafChromic film baseline in-vivo measurements on patients during cardiac, abdominal, and neurology IR procedures.
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