Background: The lifespan of insecticide-treated nets (ITNs) varies widely across settings, reflecting both intrinsic product characteristics and external factors related to use, care, and environment. While the resistance to damage (RD) score captures intrinsic product durability, there is no standardized metric to quantify contextual risks. This study presents a proof of concept for the Risk […]
Identification of amino acid metabolism-related biomarkers in liver fibrosis: a transcriptomic analysis with experimental validation
Background Liver fibrosis (LF) represents a pivotal pathological phase in the advancement of chronic liver disorders toward cirrhosis. Amino acid metabolism reprogramming plays a pivotal role in its pathogenesis, yet the underlying molecular mechanisms remain incompletely understood. Methods Integrating three public datasets (GSE14323, GSE84044, and GSE136103) with amino acid metabolism-related gene sets, we performed consensus […]
The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration
Rare coding variants can have large effects on disease risk and provide direct routes from human genetics to disease mechanisms and therapeutic targets, but their discovery is constrained by sample size, particularly for low-prevalence diseases. Here we establish the Biobank Rare Variant Analysis (BRaVa) consortium, a global rare variant association resource that integrates sequencing and […]
Willingness to Pay for Primary Health Care Services and Associated Factors in Eastern Kasai, Democratic Republic of the Congo
Background In the Democratic Republic of the Congo (DRC), health care financing relies heavily on out-of-pocket payments, limiting access to essential services. In a context of declining external funding and ongoing efforts toward Universal Health Coverage (UHC), understanding households willingness to pay (WTP) for health care is critical for designing sustainable financing strategies. This study […]
Tryptophan-Kynurenine shunt and depletion of indole-producing Firmicutes: A new Gut-Heart axis in Calcific Aortic Stenosis (GUT-CAS)
Introduction: Calcific aortic stenosis (CAS) is a progressive valvular disease characterized by lipid accumulation, inflammation, and osteogenic remodeling. Emerging evidence implicates gut microbiota-derived metabolites in cardiovascular pathology, yet their contribution to valvular disease remains poorly defined. The aim of this study was to investigate gut microbiota and metabolite signatures in patients with CAS and explore […]
Artificial Intelligence-Based Chatbots in Genetic Counseling Practice: Current Uptake, Utilization, and Perspectives
AI-driven chatbots have been utilized in healthcare to automate administrative tasks, improve patient education, and expand access to medical information; however, their role in genetic counseling remains underexplored. To investigate the adoption, perceptions, and potential utility of AI-based chatbots in genetic counseling practice, 217 genetic counselors and genetic counseling students from across North America were […]
MiR487a-3p and MiR6855-3p Facilitate Macrophage Pro-inflammatory Polarization and Lipid Accumulation in Atherosclerosis
BACKGROUND: MicroRNAs (miRNAs) regulate macrophage plasticity in atherosclerosis (AS). We tested the hypothesis that miR487a-3p and miR6855-3p accelerate AS by promoting macrophage inflammatory responses and metabolic dysregulation. METHODS: miRNA-seq and mRNA-seq were performed on peripheral monocytes from CAD patients and healthy controls. Macrophages in mouse aortas and human coronary arteries were characterized by flow cytometry […]
Wavelet Decomposition-Based Genomic Analysis of the Human Electrocardiogram
The electrocardiogram (ECG) encodes the electrical activity of the heart across multiple timescales, yet standard clinical analysis collapses this rich signal into a handful of scalar measurements that discard most of the waveform’s structure. Whether the frequency signals lost in this reduction carry heritable biological information relevant to cardiovascular disease risk remains unclear. Here we […]
Exercise Stress Echocardiography Unmasks Subclinical Cardiovascular Dysfunction in Midlife Women Following Hypertensive Disorders of Pregnancy
Background: Hypertensive disorders of pregnancy (HDP) are a risk factor for early cardiovascular disease in women, perhaps related to adverse cardiovascular reactivity to physiologic stress. Objectives: To evaluate the association of HDP subtypes with exercise stress echocardiography parameters. Methods: This retrospective cohort study linked exercise stress echocardiograms with delivery records. HDP was classified as none, […]
Using genetics to aid detection of adverse drug effects: a Mendelian randomisation analysis of genetically proxied GLP-1RA in 1,020,464 participants across three population-based cohorts
Background: GLP-1 receptor agonists (GLP1-RAs) are an established treatment for type 2 diabetes mellitus (T2DM) and obesity. Their widespread use is set to increase through both indication expansion and patent expiry. As well as efficacy, it is crucial to understand the safety of this drug class to enable optimal use. Here we demonstrate how a […]
Impact of minimum wage increases on homicide mortality in the US
Introduction: Even though state minimum wage (MW) is a policy lever that affects income and poverty and can prevent of violence, no prior study has comprehensively evaluated its impact in the United States (US). In this study, we estimated the impact of at least a $1 USD increase in state MW above the federal MW […]
Explainable AI for Data-Driven Design of High-Dimensional Predictive Studies
Predictive modelling is important for health data analysis and data-driven clinical decision-making. However, predictive studies are challenging to design optimally by hand when tens or even hundreds of features require selection, transformation, or interaction modelling. While complex machine learning models offer high performance, their "black-box" nature limits the clinical trust, transparency, and interpretability required for […]