Prise en charge à domicile des enfants consultant aux urgences pédiatriques pour crise d'asthme

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Enquête prospective sur la fréquentation des adolescents dans un service d'accueil et d'urgences pédiatriques

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Le syndrome de Dyggve-Melchior-Clausen

Le syndrome de Dyggve-Melchior-Clausen est une maladie congénitale rare, décrite pour la première fois en 1962. Il s'agit d'une dysplasie spondylo-épiphysaire associée à un retard mental avec de nombreuses malformations osseuses grevant le pronostic fonctionnel du patient. Il existe un variant sans retard mental : la dysplasie de Smith-McCort. Seule une soixantaine de cas ont été décrits dans la littérature scientifique. Des études récentes ont permis de localiser le gène responsable de la maladie : le gène de la Dymecline, qui se situe sur le chromosome 18 et code pour une protéine ubiquitaire dans l'organisme, en particulier dans les os et le cerveau fœtal. La maladie est due à une mutation homozygote du gène, entraînant un déficit de cette protéine. Sa fonction est encore inconnue mais elle serait impliquée dans les processus de digestion cellulaire. Cette découverte permet ainsi un test diagnostique rapide et fiable et la mise au point d'un conseil génétique efficace.Dyggve-Melchior-Clausen syndrom is a rare congenital disease, first described in 1962. It is a spondyloepiphyseal dysplasia which associates mental retardation and osseous malformations, worsening patient's functional prognosis. There is a variant without mental retardation: Smith-McCort dysplasia. About sixty cases have been described in scientific literature. Recent studies allowed to locate the disease responsible gene: the Dymeclin gene located on chromosome 18 which encodes a widespread system protein, particularly in bones and foetal brain. Disease is caused by homozygous mutation, involving a Dymeclin deficiency. Its function is still unknown but it would be involved in cell digestion process. This discovery allows a fast reliable diagnostic test, and finalizes efficient genetic counselling.AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

PROBLEMES ACTUELS POSES PAR LES MORSURES DE VIPERE CHEZ L'ENFANT

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

International audienceDevelopmental and epileptic encephalopathies (DEE) are a group of neurodevelopmental disorders characterized by epileptic seizures associated with developmental delay or regression. DEE are genetically heterogeneous, and the proteins involved play roles in multiple pathways such as synaptic transmission, metabolism, neuronal development or maturation, transcriptional regulation, and intracellular trafficking. We performed whole exome sequencing on a consanguineous family with three children presenting an early onset (<6 months) with clusters of seizures characterized by oculomotor and vegetative manifestations, with an occipital origin. Before 1 year of age, interictal electroencephalographic recordings were well organized and neurodevelopment was unremarkable. Then, a severe regression occurred. We identified a novel homozygous protein-truncating variant in the NAPB (N-ethylmaleimide-sensitive fusion [NSF] attachment protein beta) gene that encodes the βSNAP protein, a key regulator of NSF-adenosine triphosphatase. This enzyme is essential for synaptic transmission by disassembling and recycling proteins of the SNARE complex. Here, we describe the electroclinical profile of each patient during the disease course. Our findings strengthen the association between biallelic variants in NAPB and DEE and refine the associated phenotype. We suggest including this gene in the targeted epilepsy gene panels used for routine diagnosis of unexplained epilepsy