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Total functioning capacity scale in Huntington's disease: natural course over time.
J Neurol
January 2025
LUMC Department of Neurology, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Background And Objectives: The total functioning capacity (TFC) assessment has been integral to Huntington's disease (HD) research and clinical trials, measuring disease stage and progression. This study investigates the natural progression of function in HD, focusing on changes in TFC scores related to age and CAG-repeat length, and evaluates TFC's strengths and weaknesses in longitudinal studies.
Methods: Using Enroll-HD platform's clinical dataset version 5, including Registry-3, we analysed data from 21,079 participants, with 16,083 having an expanded CAG repeat.
Alterations in cardiac function correlate with a disruption in fatty acid metabolism in a mouse model of SMA.
Hum Mol Genet
January 2025
Centre for Discovery Brain Sciences, Hugh Robson Building, George Square, University of Edinburgh, Edinburgh EH8 9XD, United Kingdom.
Spinal Muscular Atrophy is an autosomal dominant disease caused by mutations and deletions within the SMN1 gene, with predominantly childhood onset. Although primarily a motor neuron disease, defects in non-neuronal tissues are described in both patients and mouse models. Here, we have undertaken a detailed study of the heart in the Smn2B/- mouse models of SMA, and reveal a thinning of the ventriclar walls as previously described in more severe mouse models of SMA.
View Article and Find Full Text PDFLook-alike modelling in violence-related research: A missing data approach.
PLoS One
January 2025
Violence and Society Centre, City St George's, University of London, London, United Kingdom.
Violence has been analysed in silo due to difficulties in accessing data and concerns for the safety of those exposed. While there is some literature on violence and its associations using individual datasets, analyses using combined sources of data are very limited. Ideally data from the same individuals would enable linkage and a longitudinal understanding of experiences of violence and their (health) impacts and consequences.
View Article and Find Full Text PDFPDGFRα inhibition reduces myofibroblast expansion in the fibrotic rim and enhances recovery after ischemic stroke.
J Clin Invest
January 2025
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Ischemic stroke is a major cause of adult disability. Early treatment with thrombolytics and/or thrombectomy can significantly improve outcomes; however, following these acute interventions, treatment is limited to rehabilitation therapies. Thus, the identification of therapeutic strategies that can help restore brain function in the post-acute phase remains a major challenge.
View Article and Find Full Text PDFEvolutionary Pressures Shape Undifferentiated Pleomorphic Sarcoma Development and Radiotherapy Response.
Cancer Res
January 2025
Stanford University, Stanford, California, United States.
Radiotherapy is an integral component in the treatment of many types of cancer, with approximately half of cancer patients receiving radiotherapy. Systemic therapy applies pressure that can select for resistant tumor subpopulations, underscoring the importance of understanding how radiation impacts tumor evolution to improve treatment outcomes. We integrated temporal genomic profiling of 120 spatially distinct tumor regions from 20 patients with undifferentiated pleomorphic sarcomas (UPS), longitudinal circulating tumor DNA (ctDNA) analysis, and evolutionary biology computational pipelines to study UPS evolution during tumorigenesis and in response to radiotherapy.
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