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The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFInfection-Related Hospitalization and Incident Heart Failure: The Atherosclerosis Risk in Communities Study.
J Am Heart Assoc
January 2025
Division of Epidemiology and Community Health, School of Public Health University of Minnesota Minneapolis MN USA.
Background: The immune response to infections may become dysregulated and promote myocardial damage contributing to heart failure (HF). We examined the relationship between infection-related hospitalization (IRH) and HF, HF with preserved ejection fraction, and HF with reduced ejection fraction.
Methods And Results: We studied 14 468 adults aged 45 to 64 years in the ARIC (Atherosclerosis Risk in Communities) Study who were HF free at visit 1 (1987-1989).
Previous surgery for lumbar spinal stenosis and association with amyloidosis and heart failure - A Danish nationwide study.
Amyloid
January 2025
Department of Cardiology, Copenhagen, Denmark.
Introduction: Cardiac Amyloidosis (CA) is characterised by amyloid fibril deposits causing heart failure (HF). Lumbar spinal stenosis (LSS) is recognised as a potential red flag for CA, but the association remains underexplored in large-scale studies.
Methods: This nationwide registry-based cohort study in Denmark included subjects ≥60 years with a history of LSS surgery.
Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFTemporary mechanical circulatory support utilization and outcomes in cardiogenic shock phenotypes: A comparative analysis of heart failure and acute myocardial infarction.
Cardiovasc Revasc Med
January 2025
Department of Cardiovascular disease, Henry Ford, Detroit, MI, USA.
Introduction: Cardiogenic shock (CS) is marked by substantial morbidity and mortality. The two major CS etiologies include heart failure (HF) and acute myocardial infarction (AMI). The utilization trends of mechanical circulatory support (MCS) and their clinical outcomes are not well described.
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