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-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.
Neurol Genet
December 2024
From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).
View Article and Find Full Text PDFAntiviral Assays: A Review of Laboratory Methods.
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Department of Biochemistry, Cell and Molecular Biology, West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Accra, Ghana.
Improving skin screening capabilities for Veterans with spinal cord injuries.
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Minneapolis Veterans Affairs Health Care System, Minneapolis, MN, USA.
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Clarity unveiled: A journey through time in cataract surgery.
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University of Derby, Derby, UK.
This historical research article offers a comprehensive examination of the evolution of cataract surgery from ancient practices to modern innovations. The historical trajectory of cataract treatment will be explored, beginning with ancient techniques such as couching in ancient civilisations and progressing through critical milestones in surgical advancement. The research delves into the challenges faced by early practitioners, the emergence of novel techniques and the pivotal contributions of pioneering surgeons throughout history.
View Article and Find Full Text PDFEvaluating the Impact of Phosphatidylethanol Testing on Hospital Outcomes.
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Hepatitis B Foundation, Doylestown, PA, USA.
Background: Alcohol dependence remains a significant global health issue, exacerbated by the coronavirus disease 2019 (COVID-19) pandemic. Phosphatidylethanol (PEth), a direct biomarker of recent alcohol consumption, offers improved specificity, sensitivity, and a longer detection window of 2 - 4 weeks compared to traditional biomarkers. This study evaluates the association between PEth testing and hospital outcomes in hospitalized patients by comparing outcomes among patients with positive PEth and negative PEth test results.
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