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Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement.
Neurol Ther
January 2025
Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. Noninvasive serum biomarkers have become key tools for diagnosing and monitoring ATTRv. This review examines the role of available biomarkers for neurological, cardiac, renal, gastrointestinal, and multisystemic involvement in ATTRv.
View Article and Find Full Text PDFHand acceleration time (HAT) as a diagnostic tool in the assessment of haemodialysis access-induced distal ischaemia (HAIDI): study protocol for a prospective cohort study in the Barcelona south metropolitan area.
BMJ Open
January 2025
Bio Heart Cardiovascular Diseases Research Group, Bellvitge Institute for Biomedical Research, L'Hospitalet de Llobregat, Barcelona, Spain.
Introduction: Chronic hand ischaemia may affect some haemodialysis patients with an arteriovenous fistula (AVF) or graft (AVG), a condition known as haemodialysis access-induced distal ischaemia (HAIDI). Duplex ultrasonography (DUS) can provide comprehensive insights into anatomical and perfusion properties, and measuring the hand acceleration time (HAT) has been demonstrated to be sensitive within the framework of chronic upper limb ischaemia.
Methods And Analysis: This single-centre, prospective cohort study will involve adult end-stage renal disease (ESRD) patients requiring either AVF or AVG for haemodialysis.
EDENT1FI Master Protocol for screening of presymptomatic early-stage type 1 diabetes in children and adolescents.
BMJ Open
January 2025
Institute of Diabetes Research, Helmholtz Munich German Research Center for Environmental Health, Munich, Germany
Introduction: The identification of type 1 diabetes at an early presymptomatic stage has clinical benefits. These include a reduced risk of diabetic ketoacidosis (DKA) at the clinical manifestation of the disease and a significant reduction in clinical symptoms. The European action for the Diagnosis of Early Non-clinical Type 1 diabetes For disease Interception (EDENT1FI) represents a pioneering effort to advance early detection of type 1 diabetes through public health screening.
View Article and Find Full Text PDFPoly-skilling and advanced practice roles in perioperative care: protocol for a realist synthesis of evidence.
BMJ Open
January 2025
Faculty of Medical Sciences, University College London, London, UK.
Introduction: An ageing population and a workforce crisis have triggered an ambitious UK strategy for sustained delivery of healthcare. In perioperative care (the management of patients from contemplation of surgery until full recovery), it is recognised that interventions are needed to place the workforce on a more sustainable footing through cross-functionality and skill-shifting, namely with advanced practice roles. However, despite some reports and reviews in the literature, it is unclear how skills development efforts may potentially support workforce transformation for an effective and resilient perioperative care workforce.
View Article and Find Full Text PDFExploring Molecular Genetics Research on Obesity in Malaysia: Protocol for a Scoping Review.
JMIR Res Protoc
December 2024
Endocrine and Metabolic Unit, Nutrition, Metabolism and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Selangor, Malaysia.
Background: Obesity presents a growing challenge to public health, and its intricate association with genetics continues to be a compelling field of study. In countries such as Malaysia, where diverse genetic backgrounds converge, exploring the molecular genetics of obesity is even more imperative.
Objective: This scoping review aimed to explore the literature on molecular genetics of obesity in Malaysia.
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