Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant.

Background: While recently identified heterozygous PRPF8 variants have been linked to various human diseases, their role in neurodevelopmental disorders (NDDs) remains ambiguous. This study investigates the potential association between homozygous PRPF8 variants and NDDs. Most PRPF8 variants are primarily associated with retinal diseases; however, we analyze a family with multiple members diagnosed with NDDs.

Assessing Health Information Seeking Behaviors Among Targeted Social Media Users Using an Infotainment Video About a Cancer Clinical Trial: Population-Based Descriptive Study.

Background: The lack of information and awareness about clinical trials, as well as misconceptions about them, are major barriers to cancer clinical trial participation. Digital and social media are dominant sources of health information and offer optimal opportunities to improve public medical awareness and education by providing accurate and trustworthy health information from reliable sources. Infotainment, material intended to both entertain and inform, is an effective strategy for engaging and educating audiences that can be easily disseminated using social media and may be a novel way to improve awareness of and recruitment in clinical trials.

Artificial intelligence-enabled automated analysis of transmission electron micrographs to evaluate chemotherapy impact on mitochondrial morphology in triple negative breast cancer.

Advancements in transmission electron microscopy (TEM) have enabled in-depth studies of biological specimens, offering new avenues to large-scale imaging experiments with subcellular resolution. Mitochondrial structure is of growing interest in cancer biology due to its crucial role in regulating the multi-faceted functions of mitochondria. We and others have established the crucial role of mitochondria in triple-negative breast cancer (TNBC), an aggressive subtype of breast cancer with limited therapeutic options.

MicroRNA Expression in Asymptomatic Welders: Implications for Biomarker Discovery for Environmentally-Linked Neurodegenerative Disorders.

Chronic occupational exposure to metals in welding fumes has been implicated in the etiology of neurodegenerative diseases (NDDs), including Parkinson's disease (PD) and Alzheimer's disease (AD). Changes in microRNA (miRNA) expression have been associated with various neurodegenerative conditions. Circulating miRNAs, in particular, have emerged as promising, minimally invasive biomarkers for diagnosing and monitoring disease progression.

ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time.

Purpose: The ClinGen Hearing Loss Gene Curation Expert Panel (GCEP) was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen's semi-quantitative framework. ClinGen mandates timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong, every 2-3 years.

Methods: Thirty-five GDRs met the criteria for recuration within two years of original curation.