AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.

Background: Diagnosing genetic disorders requires extensive manual curation and interpretation of candidate variants, a labor-intensive task even for trained geneticists. Although artificial intelligence (AI) shows promise in aiding these diagnoses, existing AI tools have only achieved moderate success for primary diagnosis.

Methods: AI-MARRVEL (AIM) uses a random-forest machine-learning classifier trained on over 3.

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.

Purpose: The analysis of exome and genome sequencing data for the diagnosis of rare diseases is challenging and time-consuming. In this study, we evaluated an artificial intelligence model, based on machine learning for automating variant prioritization for diagnosing rare genetic diseases in the Baylor Genetics clinical laboratory.

Methods: The automated analysis model was developed using a supervised learning approach based on thousands of manually curated variants.

Myocardial hypertrophy is prevented by farnesol through oxidative stress and ERK1/2 signaling pathways.

Farnesol is a sesquiterpene found in several plants, with multiple pharmacological activities. However, pharmacological actions of farnesol in the treatment of cardiac hypertrophy are not yet reported. This study aimed to investigate the effect and regulatory mechanisms of farnesol against isoproterenol-induced pathological cardiac hypertrophy.

Resistance training improves cardiovascular autonomic control and biochemical profile of rats exposed to Western diet in the perinatal period.

Introduction And Objectives: Consumption of a Western diet during the perinatal period is associated with development of cardiovascular disease. Resistance training (RT) has been used to treat cardiovascular disorders. The aim of this work was to assess the effect of RT on cardiometabolic disorders in rats exposed to a Western diet in the perinatal period.

Resistance exercise mediates remote ischemic preconditioning by limiting cardiac eNOS uncoupling.

Background: Currently viewed as a complementary non-pharmacological intervention for preventing cardiac disorders, long-term aerobic training produces cardioprotection through remote ischemic preconditioning (RIPC) mechanisms. However, RIPC triggered by acute exercise remains poorly understood. Although resistance exercise (RE) has been highly recommended by several public health guidelines, there is no evidence showing that RE mediates RIPC.

Increased Nitric Oxide Bioavailability and Decreased Sympathetic Modulation Are Involved in Vascular Adjustments Induced by Low-Intensity Resistance Training.

Resistance training is one of the most common kind of exercise used nowadays. Long-term high-intensity resistance training are associated with deleterious effects on vascular adjustments. On the other hand, is unclear whether low-intensity resistance training (LI-RT) is able to induce systemic changes in vascular tone.