Right Atrial Function and Right Ventricular Diastolic Function and Their Relation With Exercise Capacity in OSAS.

Background: Right ventricular (RV) diastolic function and right atrial (RA) function are poorly characterized in patients with obstructive sleep apnea syndrome (OSAS), but may influence exercise capacity. We aimed to evaluate RA function and RV diastolic function in OSAS and study their relationship with exercise capacity.

Methods: Fifty-three patients with OSAS and thirty age- and gender-matched controls prospectively underwent echocardiography and cardiopulmonary exercise testing to investigate RV diastolic function, RA function, and exercise capacity.

A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong.

Genetic counselling plays a crucial role in the genomic era, assisting in disease risk determination, diagnosis and management. The lack of an accredited local training program for genetic counselling in Hong Kong has led to pragmatic on-the-job training and diverse practice models. In view of the needs for enhanced awareness in genomic counselling practices among healthcare professionals, a collaborative effort - the Hong Kong Genetic Counselling Practice Consortium - was initiated to develop genomic medicine in Hong Kong.

Impact of Zero Coronary Artery Calcium Scoring on Downstream Cardiac Testing and Cardiac Outcomes Compared With No Testing.

Background: The impact of coronary artery calcium (CAC) scoring on downstream resource utilisation and outcomes remains unclear, especially in those with zero CAC.

Methods: Consecutive CAC scores from two academic hospitals in Toronto, Ontario, were linked to population-based databases. Subjects with zero CAC without previous cardiovascular disease were propensity score matched with a non-CAC-tested control group for age, sex, cardiovascular risk factors, and comorbidities.

Risk of Heart Failure in Patients With Immune-Mediated Inflammatory Diseases: A Population-Based Study.

Objective: To evaluate the risk of heart failure (HF) in patients with immune-mediated inflammatory diseases (IMIDs) compared to the general population with and without diabetes mellitus (DM).

Methods: A population-based cohort study was conducted in patients with rheumatoid arthritis (RA), radiographic axial spondyloarthritis (r-axSpA), psoriatic arthritis, and psoriasis (PsO) in Ontario from 2011 until 2019. The study outcome was first hospitalization for HF.

SplitFusion enables ultrasensitive gene fusion detection and reveals fusion variant-associated tumor heterogeneity.

Gene fusions are common cancer drivers and therapeutic targets, but clinical-grade open-source bioinformatic tools are lacking. Here, we introduce a fusion detection method named SplitFusion, which is fast by leveraging Burrows-Wheeler Aligner-maximal exact match (BWA-MEM) split alignments, can detect cryptic splice-site fusions (e.g.