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Family screening for hypertrophic cardiomyopathy: Initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals.
Int J Cardiol
December 2024
Department of Cardiology, Cardiovascular Institute, Thorax Center, Department of Cardiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Aims: (i) Investigate the prevalence of hypertrophic cardiomyopathy (HCM) in individuals with pathogenic/likely pathogenic (P/LP) gene variants detected through family cascade testing in relatives, and (ii) evaluate phenotypic progression in genotype-positive phenotype-negative (G+/P-) individuals during follow-up.
Results: From 2000 to 2023, 273 individuals underwent cardiologic evaluation following P/LP variant detection through family screening. Upon initial evaluation, HCM was diagnosed in 128 (47 %) individuals.
Alpha-synuclein seed amplification assay longitudinal outcomes in Lewy body disease spectrum.
Brain
December 2024
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40139, Italy.
Evidence from neuropathological cohorts indicates that a CSF α-synuclein (α-syn) seed amplification assay (SAA) may provide quantitative kinetic parameters correlating with α-syn pathology burden in patients with Lewy body disease (LBD). Studies are needed to assess their longitudinal trend during the pre-symptomatic and clinical disease phases and their correlation with measures of disease progression. We aimed to assess the baseline α-syn CSF SAA kinetic parameters, their longitudinal variations and associations with clinical outcomes in a cohort of longitudinally repeatedly sampled Lewy Body disease patients, including clinically unimpaired (asymptomatic LBD) and neurologically impaired individuals.
View Article and Find Full Text PDFClinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.
J Pediatr (Rio J)
January 2025
Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre (HCPA), Grupo de Pesquisa em Neurogenética Clínica, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Neurologia, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, Brazil; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address:
Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil.
Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases.
Characterizing Clinical Progression in Cognitively Unimpaired Older Individuals with Brain Amyloid: Results from the A4 Study.
J Prev Alzheimers Dis
July 2024
Dorene M Rentz, PsyD, Department of Neurology, Brigham and Women's Hospital, 60 Fenwood Road, 9016S, Boston, MA 02115, USA Email: Telephone: 617-732-2385; FAX: 617-738-9122.
Background: Clinical Dementia Rating (CDR) global (CDR-G) and sum of box scores (CDR-SB) are commonly used as primary outcome variables to measure progression or treatment effects in symptomatic Alzheimer disease (AD) clinical trials.
Objectives: We sought to determine whether the CDR is sensitive to change in pre-symptomatic AD and whether there are specific CDR boxes that are dynamic during the multi-year Anti-Amyloid in Asymptomatic Alzheimer's Disease (A4) secondary prevention study.
Design: All participants entered the study with a CDR-G of 0.
Potassium dichromate sensitivity presenting as tefillin dermatitis: A retrospective cohort study.
Contact Dermatitis
September 2024
Department of Dermatology, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
Background: Tefillin are a religious article worn by Jewish men during daily prayer. Tefillin dermatitis secondary to potassium dichromate sensitivity is recognised, but data remain sparse.
Objective: To investigate the prevalence and clinical characteristics of tefillin dermatitis.
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