Biallelic variants in genes regulating endosomal, lysosomal and autophagy pathways are increasingly implicated in severe neurodevelopmental disorders, yet the contribution of the Rab7 effector WDR91 to human disease remains incompletely defined. We report a child with a severe neurodevelopmental disorder characterized by progressive microcephaly, microlissencephaly, corpus callosum hypoplasia, and early-onset epilepsy, harboring compound heterozygous WDR91 […]
Association of Otolithic Integrity With Subjective and Functional Outcomes in Vestibular Rehabilitation: A Pilot Study
Variable recovery in vestibular rehabilitation underscores the need for objective biomarkers to identify patients at risk of poor clinical outcomes. This study aimed to establish proof of concept for a multidimensional prognostic framework using structural cervical vestibular evoked myogenic potential (cVEMP) and functional modified Clinical Test of Sensory Interaction on Balance (mCTSIB) markers to predict […]
Cardiovascular Adverse Events After Definitive Chemoradiotherapy for Lung Cancer in an Appalachian Population: Incidence and Machine Learning Based Prediction
Background Cardiovascular adverse events (CVAEs) after chemoradiotherapy (CRT) for lung cancer are major concerns in Appalachia due to high rates of smoking and pre-existing cardiovascular diseases (CVD). The objectives of this study were to characterize the incidence of CVAEs in this population and evaluate machine learning (ML) models for CVAEs risk stratification and mortality prediction. […]
Client and Health Care Provider Perspectives on Point-of-Care Testing for Sexually Transmitted Infections in Community Pharmacies in Uganda
Introduction : The World Health Organization (WHO) recommends testing for sexually transmitted infections (STIs), but laboratory-based and rapid or point-of-care (POC) testing are often unavailable and unaffordable, especially in low-resource settings, leading to empiric (usually antibiotic) treatment. Community pharmacies (CPs) are often the first point of contact for persons with symptoms of STIs, where pharmacists […]
A Protocol for Identifying Priorities for Women+ Health in the Maritime Provinces using a Priority Setting Partnership Approach
Background/Objectives: Women+ (e.g., women and individuals assigned female at birth) experience disproportionate health risks and persistent gaps in access to care, despite regionally coordinated health systems. Women+ health research remains significantly underfunded and understudied, contributing to inequities in diagnosis, treatment, and outcomes. This study aims to collaboratively identify and prioritize the most pressing unanswered research […]
Impact of sputum quality on Xpert MTB/RIF Ultra test results for tuberculosis: A multi-country study
Rationale: Sputum-based testing using Xpert MTB/RIF Ultra (Xpert) is the most common molecular testing method for diagnosing tuberculosis (TB). Objectives: To evaluate whether sputum quality influences Xpert positivity and diagnostic accuracy. Methods: We screened consecutive people for presumptive TB in India, the Philippines, Vietnam, Nigeria, South Africa, Uganda, and Zambia as part of the R2D2 […]
CorSeg-CineSAX: An Open-Source Deep Learning Framework for Fully Automatic Segmentation of Short-Axis Cine Cardiac MRI Across Multiple Cardiac Diseases
Background: Segmentation of the left ventricular myocardium, left ventricular cavity, and right ventricular cavity on short-axis cine cardiac magnetic resonance (CMR) images is essential for quantifying cardiac structure and function. However, existing automated segmentation tools are limited by small training datasets, narrow disease coverage, restrictive input format requirements, and the absence of anatomical plausibility constraints, […]
Multimodal Wearable and Survey Data Reveal Distinct Physiologic Profiles in Hypermobile-Ehlers Danlos Syndrome for Screening Advancements
Hypermobile Ehlers-Danlos Syndrome (hEDS) is a genetic connective tissue disorder characterized by hypermobile joints, chronic pain, fatigue, brain fog, orthostatic intolerance, and GI symptoms and dysmotility. Its heterogeneous presentation contributes to poor quality of life, inappropriate interventions, and prolonged diagnostic delays, often up to 10 years. This study primarily aimed to determine if physiological signals […]
Measuring the impact of lived experience and caregiver engagement in research on the research conducted: development and pilot testing of an assessment tool
Background. People with lived/living experience of health conditions, as well as caregivers, are increasingly engaged in research. This study aimed to develop and pilot test a new tool measuring the impact of lived/living experience engagement on the research. The measure is called the Measure of Engagement Tool for Research and lived Experience (METRE). Method. We […]
The Influence of Polypharmacy on Type 2 Diabetes Adverse Cardiovascular Outcomes in a Rural Cohort
Objective: In this study, we utilized a large-scale clinical database to evaluate the relationship between polypharmacy and adverse outcomes among type 2 diabetes patients in rural Montana to inform strategies that improve adherence, reduce preventable complications, and promote equitable diabetes care in underserved regions. Research Design and Methods: 591 patients from the Big Sky Care […]
Cross-Tabulating Epidemiological Covariates with AUDIT-C Data in Large-Scale Biobanks
Introduction: The Alcohol Use Disorders Identification Test-Consumption (AUDIT-C) is a widely utilized screening tool in large-scale electronic health record (EHR) biobanks. However, its categorical, range-based survey responses present a significant challenge for epidemiological research, especially where continuous quantitative variables may be preferred. Standard workarounds, such as assigning categorical midpoints or utilizing aggregate ordinal scores for […]
Identification of Human Transferrin Receptor as an Entry Co-receptor for Parvovirus B19 Infection of Human Erythroid Progenitor Cells
Parvovirus B19 (B19V), a member of the genus Erythroparvovirus within the Parvoviridae family, infects human erythroid progenitor cells (EPCs) of bone marrow and fetal liver, and causes various hematological disorders. The minor capsid protein VP1 of B19V contains a unique N-terminal region (VP1u) that facilitates virus binding and internalization into EPCs via its receptor-binding domain […]