Hôpital Necker-Enfants Malades

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...