7 results match your criteria: "National Institute of Cardiovascular Disorders[Affiliation]"

Coronary artery aneurysms (CAAs) occur when an artery dilates 1.5 times the reference vessel. They occur most commonly because of atherosclerosis.

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Accidental penetrating injuries are common among children, either with a sharp or a blunt object. The screwdriver is an uncommon weapon; therefore, injuries caused by it represent an even rarer subset. Inadvertent injuries in the chest with a screwdriver as a stabbing weapon are extremely unusual.

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Congenital anomalous coronary arteries (CACAs) comprise an important variant of the coronary vasculature. They are benign in the vast majority of cases, whereas a small minority may be affected by serious consequences such as myocardial infarction, arrhythmia, cardiac arrest, and even death. We herein describe a 62-year-old man with sudden and severe substernal chest pain; Q waves in electrocardiographic leads II, III, and aVF; and positive serum troponin I enzyme.

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Direct infusion high-resolution mass spectrometry (DIHRMS) is a novel, high-throughput approach to rapidly and accurately profile hundreds of lipids in human serum without prior chromatography, facilitating in-depth lipid phenotyping for large epidemiological studies to reveal the detailed associations of individual lipids with coronary heart disease (CHD) risk factors. Intact lipid profiling by DIHRMS was performed on 5662 serum samples from healthy participants in the Pakistan Risk of Myocardial Infarction Study (PROMIS). We developed a novel semi-targeted peak-picking algorithm to detect mass-to-charge ratios in positive and negative ionization modes.

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To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CHD, including a new T2D association at a missense variant in HLA-DRB5 (odds ratio (OR) = 1.29).

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Apolipoprotein(a) isoform size, lipoprotein(a) concentration, and coronary artery disease: a mendelian randomisation analysis.

Lancet Diabetes Endocrinol

July 2017

Medical Research Council (MRC)/British Heart Foundation (BHF) Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, UK; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; National Institute for Health Research Blood and Transplant Research Unit, University of Cambridge, Cambridge, UK; Cambridge British Heart Foundation Centre of Excellence, University of Cambridge, Cambridge, UK. Electronic address:

Background: The lipoprotein(a) pathway is a causal factor in coronary heart disease. We used a genetic approach to distinguish the relevance of two distinct components of this pathway, apolipoprotein(a) isoform size and circulating lipoprotein(a) concentration, to coronary heart disease.

Methods: In this mendelian randomisation study, we measured lipoprotein(a) concentration and determined apolipoprotein(a) isoform size with a genetic method (kringle IV type 2 [KIV2] repeats in the LPA gene) and a serum-based electrophoretic assay in patients and controls (frequency matched for age and sex) from the Pakistan Risk of Myocardial Infarction Study (PROMIS).

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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Nature

April 2017

Center for Genomic Medicine, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.

Article Synopsis
  • The study aims to understand gene functions in the human genome by analyzing individuals with loss-of-function mutations, particularly in a Pakistani cohort where consanguinity is common, leading to higher rates of such mutations.
  • Researchers sequenced the protein-coding regions of 10,503 adults and identified 49,138 rare mutations predicted to disrupt 1,317 genes; they examined the effects of specific homozygous mutations on various biochemical and disease traits.
  • The study found that individuals with a homozygous mutation in the APOC3 gene exhibited reduced post-meal plasma triglyceride levels, highlighting the potential for using 'human knockouts' to gain insights into gene function and its impact on health.
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