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Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
J Neurol
January 2025
Department of Neurology and Neurosciences, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain.
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications.
J Community Genet
December 2024
Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for relatives of affected individuals. A digital risk-prediction tool that enables general population individuals to evaluate their cardiovascular risk based on family health history could be a responsible approach to facilitate early detection and improve public health, but development and use of such a tool is not without legal and ethical requirements. At the start of tool development, experts addressed potential legal and ethical implications.
View Article and Find Full Text PDFPeripheral artery disease, antithrombotic treatment and outcomes in European and Asian patients with atrial fibrillation: analysis from two prospective observational registries.
BMC Med
December 2024
Liverpool Centre for Cardiovascular Science at University of Liverpool, Liverpool John Moores University and Liverpool Heart & Chest Hospital, Liverpool, UK.
Background: In patients with atrial fibrillation (AF), the impact of peripheral artery disease (PAD) on oral anticoagulant (OAC) therapy use and the risk of outcomes remains unclear.
Objective: To analyse the epidemiology of PAD in a large cohort of European and Asian AF patients, and the impact on treatment patterns and risks of adverse outcomes.
Methods: We analysed AF patients from two large prospective observational registries.
Development of an asthma health-care burden score as a measure of severity and predictor of remission in SARP III and U-BIOPRED: results from two major longitudinal asthma cohorts.
Lancet Respir Med
January 2025
Division of Pulmonary Medicine, Department of Medicine, Mayo Clinic, Scottsdale, AZ, USA.
Background: Current asthma guidelines, including those of the European Respiratory Society (ERS) and American Thoracic Society (ATS), suboptimally predict asthma remission, disease severity, and health-care utilisation. We aimed to establish a novel approach to assess asthma severity based on asthma health-care burden data.
Methods: We analysed prospectively collected data from the Severe Asthma Research Program III (SARP III; USA) and the European Unbiased Biomarkers for the Prediction of Respiratory Disease Outcomes (U-BIOPRED; 11 European countries) to calculate a composite burden score based on asthma exacerbations and health-care utilisation, which was modified to include the use of short-acting beta agonists (SABAs) to reflect asthma symptom burden.
CHARACTERIZATION OF CYSTIC PANCREATIC LESIONS ON EUS, A SINGLE CENTRE EXPERIENCE.
J Ayub Med Coll Abbottabad
November 2024
Pakistan Institute of Medical Sciences, Islamabad-Pakistan.
Article Synopsis
- Pancreatic cystic lesions are becoming more common due to improved imaging techniques, necessitating thorough evaluation since some may be cancerous.
- The study analyzed patients with persistent abdominal pain at a military hospital over six months, leading to 88 cystic lesions identified through endoscopic ultrasound (EUS) and further assessment with fine needle aspiration (EUS-FNA).
- Results showed that most patients had a history of pancreatitis, with the majority of lesions located in the pancreatic body, primarily involving pancreatic pseudocysts, and all EUS procedures were successfully completed.
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