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Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
Orphanet J Rare Dis
December 2024
Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.
Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).
Trains scheduling problem with multiple lines.
Sci Rep
December 2024
Department of Mathematics, School of Advanced Sciences, Vellore Institute of Technology, Vellore, Tamil Nadu, 632014, India.
This study explores the problem of train scheduling (or) train timetabling and its impact on the administration of railway management. This is a highly dependable and effective public transportation system. The problem considers both single and multiple tracks along with multiple platforms with varying train capacities (like speed, passengers, and so on).
View Article and Find Full Text PDFReal-world multicentre cohort study on choices and effectiveness of immunotherapies in NMOSD and MOGAD.
J Neurol Neurosurg Psychiatry
December 2024
Department of Neurology and Institute of Neuroimmunology and MS (INIMS), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background: Recurrent attacks in neuromyelitis optica spectrum disorders (NMOSDs) or myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) can lead to severe disability. We aimed to analyse the real-world use of immunotherapies in patients with NMOSD and MOGAD, focusing on changes in treatment strategies, effects on attack rates (ARR) and risk factors for attacks.
Methods: This longitudinal registry-based cohort study included 493 patients (320 with aquaporin-4 immunoglobulin G (AQP4-IgG) seropositive NMOSD (65%), 44 with AQP4-IgG seronegative NMOSD (9%) and 129 MOGAD (26%)) with 1247 treatments from 19 German and one Austrian centre from the registry of the neuromyelitis optica study group (NEMOS).
Improving outcomes for very preterm babies in England: does place of birth matter? Findings from OPTI-PREM, a national cohort study.
Arch Dis Child Fetal Neonatal Ed
December 2024
Nuffield Department of Population Health, University of Oxford National Perinatal Epidemiology Unit, Oxford, UK.
Objective: Babies born between 27 and 31 weeks of gestation contribute substantially towards infant mortality and morbidity. In England, their care is delivered in maternity services colocated with highly specialised neonatal intensive care units (NICU) or less specialised local neonatal units (LNU). We investigated whether birth setting offered survival and/or morbidity advantages to inform National Health Service delivery.
View Article and Find Full Text PDFDifferentiating multiple sclerosis with predominant spinal cord and optic nerve involvement from other autoimmune demyelinating diseases using B cell immunophenotyping and gene expression profiling.
Mult Scler Relat Disord
December 2024
Istanbul University, Aziz Sancar Institute for Experimental Medical Research, Department of Neuroscience, Istanbul, Turkiye.
Objective: Multiple sclerosis (MS) may present with predominant involvement of the spinal cord and optic nerve (MS/w-SCON) and mimic other autoimmune inflammatory demyelinating disorders (AIDD) such as neuromyelitis optica spectrum disorder (NMOSD), and relapsing inflammatory optic neuritis (RION). Thus, biomarkers are required for effective differential diagnosis of AIDD.
Methods: Patients with MS/w-SCON (n = 20), MS without involvement of SCON (MS/wo-SCON) (n = 22), NMOSD (n = 16), RION (n = 15) and healthy individuals (n = 21) were included.
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