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Generation Victoria (GenV): protocol for a longitudinal birth cohort of Victorian children and their parents.
BMC Public Health
January 2025
Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
Background: In a world confronted with new and connected challenges, novel strategies are needed to help children and adults achieve their full potential, to predict, prevent and treat disease, and to achieve equity in services and outcomes. Australia's Generation Victoria (GenV) cohorts are designed for multi-pronged discovery (what could improve outcomes?) and intervention research (what actually works, how much and for whom?). Here, we describe the key features of its protocol.
View Article and Find Full Text PDFSexual and reproductive health is an essential part of comprehensive medical care. As the field of medicine becomes more specialized and siloed and the diagnostic work-up in surgery more advanced, the risk of anchoring diagnoses and partitioning of care increases. Thus, the fundamentals of a complete patient history and review of each body system remain critical in ensuring that surgeons establish a broad differential diagnosis; provide comprehensive, well-rounded care to patients; and create opportunities for patient counseling and interventions.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Background: Classical genome-wide association studies (GWAS) of Alzheimer's disease (AD), which successfully identified over 75 risk loci to date, are limited to the content of the imputation panels that typically do not cover all types of genetic variation, e.g., tandem repeats encompassing >55% of human genome.
View Article and Find Full Text PDFMind the Gap: A Neural Network Framework for Imputing Genotypes in Non-Model Species.
Mol Ecol Resour
January 2025
Section for Molecular Ecology and Evolution, Globe Institute, University of Copenhagen, Copenhagen, Denmark.
Reduced representation sequencing (RRS) has proven to be a cost-effective solution for sequencing subsets of the genome in non-model species for large-scale studies. However, the targeted nature of RRS approaches commonly introduces large amounts of missing data, leading to reduced statistical power and biased estimates in downstream analyses. Genotype imputation, the statistical inference of missing sites across the genome, is a powerful alternative to overcome the caveats associated with missing sites.
View Article and Find Full Text PDFMultimodality imaging features of systemic amyloidosis: a case report.
BMC Cardiovasc Disord
January 2025
Department of Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
Background: Systemic light chain amyloidosis is a rare and debilitating disease, especially for which initially presented with digestive tract involvement. Myocardial amyloidosis is highly aggressive with generally poor prognosis and often resulted in missed diagnosis or misdiagnosis with routine examination tools. Multimodality imaging play an important role in diagnosing the amyloidosis effect on multiple organs.
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