Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.

Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.

Hip Fracture Intervention Study for Prevention of Hypotension Trial: a Pilot Randomized Controlled Trial.

Background: Hypotension during anesthesia for surgery for hip fracture is common and associated with myocardial injury, stroke, acute kidney injury, and delirium. We hypothesized that maintaining intraoperative blood pressure close to patients' preoperative values would reduce these complications compared to usual care.

Methods: A pilot feasibility patient- and assessor-blinded parallel group randomized controlled trial.

Assessment of Standards for Reporting of Diagnostic Accuracy (STARD) 2015 guideline adherence in medical imaging diagnostic accuracy studies published in 2023.

Background: The Standards for Reporting of Diagnostic Accuracy (STARD) 2015 guideline facilitates evaluation of key aspects of diagnostic test accuracy (DTA) studies and their findings, including the risk of bias and applicability of findings.

Objective: To evaluate the completeness of reporting in medical imaging DTA research in a sample of studies published in 2023.

Materials And Methods: A systematic search of Medline, Embase and the Cochrane Library was performed to identify medical imaging DTA studies published between January - June 2023 that assessed one or more index imaging tests compared to a reference standard and reported test performance using relevant outcome measures.

Baseline microbiota of blueberries, soil, and irrigation water from blueberry farms located in three geographical regions.

Bacterial microbiota was determined in fruit, soil, and irrigation water from blueberry ( spp.) farms located in Cundinamarca, Colombia; Mississippi, United States; and Jalisco, Mexico. Bacterial communities were studied using 16S ribosomal ribonucleic acid (rRNA) gene amplification by targeting the V3-V4 hypervariable region.