Hôpital Necker-Enfants Malades

Temporal trends and seasonal patterns of violent crime in France

Violent behavior is a major public health concern, yet whether different forms of violent crime follow similar or distinct seasonal patterns remains unclear. We analyzed monthly national counts of police-recorded violent offenses in France from January 2016 to December 2024 using...

Autoantibodies neutralizing type I IFNs underlie ~5% of herpes simplex encephalitis in adults.

Inborn errors of type I interferon (IFN-I) immunity account for ∼7-8% of herpes simplex encephalitis (HSE) cases in young children, but the pathogenesis of HSE in adults is largely unknown. We report that IFN-I autoantibodies (auto-Abs) in serum/plasma samples drawn before, durin...

Development and evaluation of a quality assessment tool for equality, diversity, and inclusion (QUALITY-EDI) within healthcare research

Implementing equality, diversity, and inclusion (EDI) in healthcare research is critical to ensuring findings are translatable and provide the greatest benefit to patients who need it most. A quality assessment scoring tool (QUALITY-EDI) was developed to evaluate the conduct of E...

Semaglutide for Treating Paediatric Craniopharyngioma‐Related Obesity: A Multicentre Case Series

ABSTRACT Aims Obesity is a complication of childhood craniopharyngioma that remains difficult to treat. We investigated whether semaglutide was associated with a decrease in BMI among adolescents with craniopharyngioma‐related obesity. Material and Methods This multicentre retros...

SENIOR ‐ IPI : An easily applicable prognostic index for first‐line large B‐cell lymphomas patients >80 years treated with curative intent

Summary Using LYmphoma Study Association clinical trials combining 438 first‐line large B‐cell lymphomas (LBCL) patients >80 years old, we defined SENIOR‐IPI, an easily applicable prognostic index for this elderly population treated with an anti‐CD20‐miniCHOP (cyclophosphamide, d...

Acute neuro-inflammatory presentation of ATP1A3 variants: Case reports of three patients with different phenotypes

Background ATP1A3 variants are responsible for rare neurological conditions such as Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP), and Cerebellar Ataxia Areflexia Pes Cavus Optic Atrophy and Sensorineural Hearing Loss (CAPOS). Intermediate phe...

Anti-thymocyte globulin triggers TNF-dependent cell death in T-cell acute lymphoblastic leukemia

T-cell acute lymphoblastic leukemia (T-ALL) accounts for one of the most aggressive hematological tumors associated with poor prognosis, notably for relapsed and refractory patients. Hence, an unmet medical need persists for T-ALL patients who fail to durably respond to conventio...

Cefepime exposure in prolonged or intermittent infusion in critically ill children

Aims Cefepime is commonly used in critically ill children for whom there is a high between‐subject variability. To reach the therapeutic pharmacokinetic (PK) target in critically ill patients, prolonged infusion of beta‐lactams seems to be the most efficient. The aim of this stud...

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge?

As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.

Daratumumab, lenalidomide, and dexamethasone in transplant-ineligible newly diagnosed multiple myeloma: MAIA final survival analysis

Abstract In previous analyses of MAIA, daratumumab plus lenalidomide/dexamethasone (D-Rd) significantly improved progression-free survival and overall survival (OS) versus lenalidomide/dexamethasone (Rd) in transplant-ineligible newly diagnosed multiple myeloma (NDMM). We report...

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

Cutaneous Pediatric Vasculitis: A Clinico-Histopathological Overview of Common and Novel Entities

Vasculitis encompasses a heterogeneous group of diseases characterized by the inflammation of blood vessels. In children, the diagnosis of vasculitis with cutaneous involvement relies on a combination of clinical evaluation, histopathological examination, and, in some cases, gene...

Comparative performance of CMV IgM and IgG avidity assays for diagnosing a recent primary infection in the first trimester of pregnancy

First-trimester (T1) cytomegalovirus (CMV) screening relies on IgG, IgM, and IgG avidity testing, but assay performance may vary according to the infection timing. To evaluate the ability of two IgM and three IgG avidity assays to detect maternal primary CMV infection (MPI) occur...

Surgical Morbidity and Short-Term Oncologic Status after Prophylactic-Intent Thyroidectomy in a Cohort of Children with MEN2 from the Multicenter GTE ENDOCAN-RENATEN Study

BACKGROUND: Children carrying germline RET mutations associated with multiple endocrine neoplasia type 2 (MEN2) are at high risk of developing medullary thyroid carcinoma (MTC). Prophylactic-intent thyroidectomy is recommended during childhood to prevent progression to advanced d...