South Asia Rheumatic Heart Disease Genetics Network Data Access Committee
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ABSTRACT:
PROVIDER: EGAC00001001161 | EGA |
REPOSITORIES: EGA
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Project description:Rheumatic heart disease (RHD) is a major cause of cardiovascular death and disability amongst young adults. Building on a sample collection established for and genotyped in several earlier successful candidate gene studies, this case-control study investigated host genetic susceptibility to RHD using a genome-wide approach. The current dataset comprises over 850 individuals recruited in Uttar Pradesh, India, including cases of RHD based on echocardiographic diagnosis and controls recruited on the basis of normal echocardiograms. For this analysis all available samples were genotyped using the Illumina HumanCore-24 BeadChip platform. Efforts are now underway to establish new sample collections in other areas of India as well as Pakistan and later other neighbouring countries.
| EGAS00001003565 | EGA
Project description:The Genetic Association Information Network (GAIN) Data Access Committee was established in June 2007 to provide prompt and fair access to data from six genome-wide association studies through the database of Genotypes and Phenotypes (dbGaP). Of 945 project requests received through 2011, 749 (79%) have been approved; median receipt-to-approval time decreased from 14 days in 2007 to 8 days in 2011. Over half (54%) of the proposed research uses were for GAIN-specific phenotypes; other uses were for method development (26%) and adding controls to other studies (17%). Eight data-management incidents, defined as compromises of any of the data-use conditions, occurred among nine approved users; most were procedural violations, and none violated participant confidentiality. Over 5 years of experience with GAIN data access has demonstrated substantial use of GAIN data by investigators from academic, nonprofit, and for-profit institutions with relatively few and contained policy violations. The availability of GAIN data has allowed for advances in both the understanding of the genetic underpinnings of mental-health disorders, diabetes, and psoriasis and the development and refinement of statistical methods for identifying genetic and environmental factors related to complex common diseases.
| S-EPMC3617375 | biostudies-literature
Project description:Data Access Committee EGAC00001000506
| EGAC00001000506 | EGA
Project description:Data access committees (DACs) are critical players in the data sharing ecosystem. DACs review requests for access to data held in one or more repositories and where specific constraints determine how the data may be used and by whom. Our team surveyed DAC members affiliated with genomic data repositories worldwide to understand standard processes and procedures, operational metrics, bottlenecks, and efficiencies, as well as their perspectives on possible improvements to quality review. We found that DAC operations and systemic issues were common across repositories globally. In general, DAC members endeavored to achieve an appropriate balance of review efficiency, quality, and compliance. Our results suggest a similarly proportionate path forward that helps DACs pursue mutual improvements to efficiency and compliance without sacrificing review quality.
| S-EPMC11265613 | biostudies-literature
Project description:Heart failure (HF) is an emerging public health problem due to increasing hospitalisations, readmissions and direct healthcare costs. Transitional care (TC) aims to improve multidisciplinary care coordination in HF and provides a streamlined strategy to ensure discharge success. This article reviews the different TC models and interventions in HF, and compares their strengths, weaknesses and efficacies. Notably, a nurse-led TC model under the direct administration of a dedicated multidisciplinary team appears to be the superior model of care. The emerging use of remote technology to track patient progress adds value, as human resources are scarce. Several knowledge gaps are highlighted in this article. The authors share their local institutional TC experience and discuss its early impact on HF care.
| S-EPMC5490879 | biostudies-other
Project description:BackgroundThe prevalence and paradigm of antenatal heart disease are contrasting between high-income, industrialized, and low- and middle-income countries. In this systematic review, we report the prevalence of heart disease and its spectrum in pregnant women of South Asia.MethodsWe searched through different electronic databases (PubMed, Google-scholar, Embase, Cochrane Library) to locate relevant articles. Studies with sufficient data that met our inclusion criteria were included. Two reviewers independently screened the articles. Discrepancies were resolved by other reviewers. Subsequently, data extraction was done using a standardized form and quality assessment of studies using the Joanna Briggs Institute tool. Meta-analysis was done using R software.ResultsAfter various stages of screening 25 studies were included in the final quantitative synthesis. The pooled prevalence of heart disease among pregnant women was 1.46% (95% CI 0.99-2.01). Among those with heart disease, 70.25% (95% CI 64.87-75.38) had Rheumatic heart disease and 18.10% (95% CI 14.39-22.12) had congenital heart disease. The pooled prevalence of preterm labor and delivery among pregnant women with heart disease was 17.63% (95% CI 12.18-23.80). Similarly, the pooled maternal and fetal mortality rates were 26.14 (95% CI 12.47-43.55) and 50.48 (95% CI 29.59-75.83) per 1000 pregnant women with heart disease respectively.ConclusionAs pregnancy, itself is a prolonged state of physiologic stress, heart disease further adds to the risk both for the mother and fetus. Having such a high prevalence, efforts must be made to detect and closely monitor the condition antenatally, and decisions should be made according to the clinical conditions of the patient.
| S-EPMC9422311 | biostudies-literature
Project description:BackgroundGiven the rapidly growing burden of cardiovascular disease (CVD) in Asia, this study forecasts the CVD burden and associated risk factors in Asia from 2025 to 2050.MethodsData from the Global Burden of Disease 2019 study was used to construct regression models predicting prevalence, mortality, and disability-adjusted life years (DALYs) attributed to CVD and risk factors in Asia in the coming decades.FindingsBetween 2025 and 2050, crude cardiovascular mortality is expected to rise 91.2% despite a 23.0% decrease in the age-standardised cardiovascular mortality rate (ASMR). Ischaemic heart disease (115 deaths per 100,000 population) and stroke (63 deaths per 100,000 population) will remain leading drivers of ASMR in 2050. Central Asia will have the highest ASMR (676 deaths per 100,000 population), more than three-fold that of Asia overall (186 deaths per 100,000 population), while high-income Asia sub-regions will incur an ASMR of 22 deaths per 100,000 in 2050. High systolic blood pressure will contribute the highest ASMR throughout Asia (105 deaths per 100,000 population), except in Central Asia where high fasting plasma glucose will dominate (546 deaths per 100,000 population).InterpretationThis forecast forewarns an almost doubling in crude cardiovascular mortality by 2050 in Asia, with marked heterogeneity across sub-regions. Atherosclerotic diseases will continue to dominate, while high systolic blood pressure will be the leading risk factor.FundingThis was supported by the NUHS Seed Fund (NUHSRO/2022/058/RO5+6/Seed-Mar/03), National Medical Research Council Research Training Fellowship (MH 095:003/008-303), National University of Singapore Yong Loo Lin School of Medicine's Junior Academic Fellowship Scheme, NUHS Clinician Scientist Program (NCSP2.0/2024/NUHS/NCWS) and the CArdiovascular DiseasE National Collaborative Enterprise (CADENCE) National Clinical Translational Program (MOH-001277-01).
| S-EPMC11296249 | biostudies-literature
Project description:Limited arterial vascular access precluded necessary transcatheter intervention in a 22-year-old woman with repaired interrupted aortic arch type B. Alternative transcaval vascular access enabled percutaneous therapy. This practice evolution is likely to benefit the growing numbers of adults with congenital heart disease. (Level of Difficulty: Advanced.).
| S-EPMC7520567 | biostudies-literature
Project description:South Asians (SAs) are at heightened risk for cardiovascular disease as compared to other ethnic groups, facing premature and more severe coronary artery disease, and decreased insulin sensitivity. This disease burden can only be partially explained by conventional risk factors, suggesting the need for a specific cardiovascular risk profile for SAs. Current research, as explored through a comprehensive literature review, suggests the existence of population specific genetic risk factors such as lipoprotein(a), as well as population specific gene modulating factors. This review catalogues the available research on cardiovascular disease and genetics, anthropometry, and pathophysiology, and cancer genetics among SAs, with a geographical focus on the U.S. A tailored risk profile will hinge upon population customized classification and treatment guidelines, informed by continued research.
| S-EPMC6777562 | biostudies-literature
Project description:Data Access Committee EGAC00001001613
| EGAC00001001613 | EGA