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Liver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.
Liver Int
February 2025
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy.
Brain Dev
January 2025
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro, Jongno-Gu, Seoul 03080, Republic of Korea. Electronic address:
Objective: The present study aimed to investigate the initial clinical features of infantile-onset genetic epilepsy and compare initial seizure variables and responses to sodium channel blockers between SCN1A and non-SCN1A group.
Methods: We selected 122 patients, comprising 58 patients with SCN1A mutations and 64 patients with mutations in other than SCN1A, from our institutional database.
Results: Patients identified in the SCN1A group tended to present with fever, prolonged seizure duration, and hemiclonic seizure semiology.
Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children.
J Clin Neurol
January 2025
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Background And Purpose: To determine the clinical phenotypes, relapse timing, treatment responses, and outcomes of children with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).
Methods: We collected the demographic, clinical, laboratory, and radiological data of patients aged <18 years who had been diagnosed with MOGAD at Seoul National University Children's Hospital between January 2010 and January 2022; 100 were identified as positive for MOG antibodies, 43 of whom experienced relapse.
Results: The median age at onset was 7 years (range 2-16 years).
An Unexpected Case of Generalized Tetanus.
Cureus
December 2024
Intensive Care Unit, Unidade Local de Saúde da Região de Aveiro, Aveiro, PRT.
Tetanus is a disease of the nervous system caused by a toxin produced by , an anaerobe found in high concentrations in the soil. The occurrence of tetanus is related to contaminated traumatic wounds, and most patients have had some failure in their immunization. However, there are rare case reports of generalized tetanus in patients with proper vaccination schemes who failed to receive appropriate prophylaxis after high-risk exposure.
View Article and Find Full Text PDFIntestinal icrobiota Transplant Prior to llogeneic tem Cell ransplant (MAST) trial: study protocol for a multicentre, double-blinded, placebo-controlled, phase IIa trial.
BMJ Open
December 2024
Centre for Haematology, Department of immunology and inflammation, Faculty of Medicine, Imperial College London, London, UK.
Introduction: Lower diversity of the gut microbiome prior to allogeneic haematopoietic cell transplantation (HCT) correlates with reduced survival after the intervention. Most patients undergoing HCT for a haematological malignancy have previously received intensive chemotherapy, resulting in prolonged neutropenic episodes requiring broad-spectrum antibiotics; use of these has been linked to reduced microbiome diversity. Intestinal microbiota transplant (IMT) is a novel treatment approach that restores this diversity.
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