647 results match your criteria: "Necker Enfants Malades University Hospital[Affiliation]"

Levamisole in childhood idiopathic nephrotic syndrome: new promises, and advocacy for global access.

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.

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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic Variants.

Neurol 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.

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Assessment of obstructive sleep apnoea in children: What are the challenges we face?

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.

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Listeria monocytogenes-associated spontaneous bacterial peritonitis in France: a nationwide observational study of 208 cases.

Lancet 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:

Article Synopsis
  • Listeriosis, an infection caused by Listeria monocytogenes, can lead to a rare form called spontaneous bacterial peritonitis, which was the focus of a nationwide study using data from France between 1993 and 2022.
  • The study included 208 patients diagnosed with L monocytogenes-associated peritonitis and found that most were older males with significant immunosuppressive health issues, particularly cirrhosis and alcoholism.
  • The symptoms were often mild or vague, with only half of the patients showing common signs like fever or abdominal pain, highlighting the challenges in diagnosing this condition.
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Response: Do all individuals with Dravet syndrome have intellectual disability?

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.

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Features of cryptococcosis among 652 HIV-seronegative individuals in France: a cross-sectional observational study (2005-2020).

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.

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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.

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Bile-induced biofilm formation in requires magnesium efflux by an RND pump.

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.

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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.

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Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Haematologica

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.

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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.

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Subcutaneous anakinra in the management of refractory MIS-C in France.

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.

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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.

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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%).

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De novo variants in DENND5B cause a neurodevelopmental disorder.

Am 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.

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Early postnatal nutrition and renal consequences in preterm infants.

Pediatr 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.

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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.

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Article Synopsis
  • The study looked at using a special access point in the arm (axillary artery) for heart procedures in kids with heart problems from January 2019 to February 2023.
  • The researchers treated 30 babies and kids, mostly under 1 year old, and performed various heart surgeries using this method with some having to come back for more treatments later.
  • The results show that this technique is safe and can help doctors perform important heart procedures on young patients more effectively.
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Article Synopsis
  • Sodium dependent multivitamin transporter (SMVT) deficiency is a rare genetic disorder that causes health issues due to a lack of certain vitamins, affecting around 10 known families.
  • This study introduced 4 new patients from Algeria, all sharing a specific genetic mutation related to SMVT, confirming its harmful effects through RNA analysis.
  • The patients exhibited similar symptoms, including optic atrophy, severe vomiting, and rapid neurological decline, suggesting a common genetic background due to a "founder effect."
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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.

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Infections Differ Among Human Immunodeficiency Virus (HIV)-Seropositive and HIV-Seronegative Individuals: Results From a Nationwide Surveillance Program in France.

Open 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.

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Juvenile neuropsychiatric systemic lupus erythematosus: A specific clinical phenotype and proposal of a probability score.

Lupus

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.

Article Synopsis
  • Juvenile systemic lupus erythematosus (j-SLE) is a rare autoimmune disease affecting multiple organs, with neuropsychiatric involvement (j-NPSLE) leading to higher morbidity and mortality rates in affected youth.
  • *In a retrospective study of j-SLE patients, 44% were diagnosed with j-NPSLE, showcasing common symptoms such as cognitive issues, hallucinations, and mood disorders, with imaging revealing nonspecific brain changes.
  • *The study developed a risk score based on clinical features and cerebrospinal fluid analysis to improve the diagnosis and management of j-NPSLE, emphasizing the importance of early recognition and treatment.
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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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