Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

BCAA interactions: how do they influence broiler performance, intestinal morphometry, lipid profile, and liver health?

An experiment was conducted to assess the effects of the BCAA and their interactions on performance, carcass composition, lipid metabolism, liver health, and intestinal morphometry in broiler chickens. Male chickens ( = 1080) were randomly assigned into floor pens in a 3 × 3 factorial design with 3 dietary ratios of SID Leu:Lys (110, 150, and 190%), and 3 dietary ratios of SID Ile-Val:Lys (68-77, 78-87, and 88-97%). Performance parameters were assessed from 1 to 35 days of age.

Enhancing Diagnostic Precision: Intracardiac Echocardiography-Guided Endomyocardial Biopsy for Complex Right Atrial Mass.

An 80-year-old woman with a history of B-cell non-Hodgkin lymphoma presented to the emergency department with exertional dyspnea and lower limb edema. A transthoracic echocardiogram revealed a large extracardiac mass invading the right atrium. A diagnostic transcatheter endomyocardial biopsy guided by intracardiac echocardiography was performed.

Perceived Barriers to Leisure-Time Physical Activity Among Physically Active Individuals With Spinal Cord Injury.

Objective: To investigate barriers to leisure-time physical activity (LTPA) for physically active people with spinal cord injury (SCI).

Design: Prospective cross-sectional.

Setting: General community.

Severe malocclusion and oral health-related quality of life in adolescents aged 12-15 years.

Introduction: Malocclusion is a public health problem. The evidence of its impact on quality of life is contradictory and requires further studies.

Objective: The aim of this study was to estimate the prevalence of severe malocclusion and its impact on oral health-related quality of life in schoolchildren aged 12-15 years.