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Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course.
Circ Genom Precis Med
January 2025
Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston. (S.M.U., K.P., B.T., A.C.F., P.N.).
Background: Earlier identification of high coronary artery disease (CAD) risk individuals may enable more effective prevention strategies. However, existing 10-year risk frameworks are ineffective at earlier identification. We sought to understand how the variable importance of genomic and clinical factors across life stages may significantly improve lifelong CAD event prediction.
View Article and Find Full Text PDFAtrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease Models.
Circ Genom Precis Med
January 2025
Centre for Heart Lung Innovation, University of British Columbia, Vancouver. (K.H., M.A., L.R., Y.L., A.S., H.H., L.R.B., Z.W.L.).
Background: Protein-truncating mutations in the titin gene are associated with increased risk of atrial fibrillation. However, little is known about the underlying pathophysiology.
Methods: We identified a heterozygous titin truncating variant (TTNtv) in a patient with unexplained early onset atrial fibrillation and normal ventricular function.
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
January 2025
Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia. (A.B., J.S., A.C., J.I.).
Background: Females with hypertrophic cardiomyopathy present at a more advanced stage of the disease and have a higher risk of heart failure and death. The factors behind these differences are unclear. We aimed to investigate sex-related differences in clinical and genetic factors affecting adverse outcomes in the Sarcomeric Human Cardiomyopathy Registry.
View Article and Find Full Text PDFMortality Rates and Forensic Causes after Hip Fracture: A Retrospective Observational Study.
Arch Bone Jt Surg
January 2024
Özel Medicabil Hastanesi, Bursa.
Objectives: Despite the widely recognised high mortality rate among patients with hip fracture, the variation in death rates by gender and cause has been less explored. This study aimed to investigate mortality rates and causes of death in patients who underwent hip fracture surgery, and to compare them with those of the general population. A secondary objective was to compare the results of Internal Fixation versus Arthroplasty in these patients.
View Article and Find Full Text PDFFully automated coronary artery calcium score and risk categorization from chest CT using deep learning and multiorgan segmentation: A validation study from National Lung Screening Trial (NLST).
Int J Cardiol Heart Vasc
February 2025
Department of Radiology, Frimley Park Hospital NHS Foundation Trust, Camberley, Surrey, UK.
Background: The National Lung Screening Trial (NLST) has shown that screening with low dose CT in high-risk population was associated with reduction in lung cancer mortality. These patients are also at high risk of coronary artery disease, and we used deep learning model to automatically detect, quantify and perform risk categorisation of coronary artery calcification score (CACS) from non-ECG gated Chest CT scans.
Materials And Methods: Automated calcium quantification was performed using a neural network based on Mask regions with convolutional neural networks (R-CNN) for multiorgan segmentation.
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