Background: Hypertrophic cardiomyopathy (HCM) is a common heritable heart disease where the most frequently associated mutations occur in the myosin-binding protein C () sarcomere-associated gene. HCM is also a common veterinary clinical problem in certain cat breeds such as Maine Coons and Ragdolls, also most associated with mutations in . Mouse models of HCM in which mutations are introduced recapitulate some, but not all, features of human HCM.
View Article and Find Full Text PDFIntroduction: X-linked retinoschisis (XLRS) is a vitreoretinal dystrophy caused by gene mutations which disrupt retinoschisin-1 (RS1) function. Vital for retinal architecture, the absence of functional RS1 leads to the development of intraretinal cysts. Intravitreal injection of a gene therapy for treating XLRS caused ocular inflammation in high dose groups in a phase I/II clinical trial.
View Article and Find Full Text PDFBackground: Cardiovascular diseases (CVD) cause 19 million fatalities each year and cost nations billions of dollars. Surrogate biomarkers are established methods for CVD risk stratification; however, manual inspection is costly, cumbersome, and error-prone. The contemporary artificial intelligence (AI) tools for segmentation and risk prediction, including older deep learning (DL) networks employ simple merge connections which may result in semantic loss of information and hence low in accuracy.
View Article and Find Full Text PDFThe incidence of injuries reported in artistic gymnastics varies greatly. This is partly due to inconsistencies in defining and reporting injuries in artistic gymnastics. The objective was to develop consistent definitions and methodology for reporting injuries in artistic gymnastics.
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