Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.

Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program.

A Randomized Trial of Cardiac Catheterization With Fasting Versus Liberal Oral Intake: The CALORI Trial.

Background: Routine preprocedural fasting before cardiac catheterization remains common practice, despite a lack of robust evidence to support this practice. We investigated the impact of a liberal nonfasting strategy vs a standardized nil per os (NPO) regimen prior to cardiac catheterization.

Methods: Adult inpatients undergoing elective or urgent cardiac catheterization were randomized (1:1 ratio) to either NPO past midnight or ad libitum intake of liquids and solids (without dietary constraints) until immediately prior to the procedure.

Identifying genetic differences between bipolar disorder and major depression through multiple genome-wide association analyses.

Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).

Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.

Genome-wide meta-analyses of non-response to antidepressants identify novel loci and potential drugs.

Antidepressants exhibit a considerable variation in efficacy, and increasing evidence suggests that individual genetics contribute to antidepressant treatment response. Here, we combined data on antidepressant non-response measured using rating scales for depressive symptoms, questionnaires of treatment effect, and data from electronic health records, to increase statistical power to detect genomic loci associated with non-response to antidepressants in a total sample of 135,471 individuals prescribed antidepressants (25,255 non-responders and 110,216 responders). We performed genome-wide association meta-analyses, genetic correlation analyses, leave-one-out polygenic prediction, and bioinformatics analyses for genetically informed drug prioritization.

Commissioning health services for First Nations, regional, and remote populations: a scoping review.

Background: Commissioning for health services has been implemented as one approach to improve the quality and access to healthcare for First Nations, regional and remote populations. This review systematically scoped the literature for studies that described or evaluated the governance, funding, implementation and outcomes from health service commissioning targeting these groups in Canada, Australia, Aotearoa/New Zealand and the United States (CANZUS nations).

Methods: Seventeen databases were searched for relevant peer reviewed and grey literature studies published in English from 2010 to 2023.