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Hearts in Rhythm Organization

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8 papers 0 to 25 followers Recent papers in the fields of inherited arrhythmias and cardiomyopathies
David J Sprenkeler, Mathilde R Rivaud, Marc A Vos
No abstract text is available yet for this article.
October 10, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Seema Mital, Kiran Musunuru, Vidu Garg, Mark W Russell, David E Lanfear, Rajat M Gupta, Kathleen T Hickey, Michael J Ackerman, Marco V Perez, Dan M Roden, Daniel Woo, Caroline S Fox, Stephanie Ware
Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged...
September 26, 2016: Circulation. Cardiovascular Genetics
Peter J Schwartz, Federica Dagradi
Management of survivors of cardiac arrest is largely based on a traditional approach. However, during the past decade, arrhythmias of genetic origin have increasingly been recognized as contributing to many more cases than previously appreciated. This realization is forcing physicians managing the survivors of cardiac arrest also to consider family members. In this Perspectives article, we examine the appropriate management approaches for survivors of cardiac arrests related to channelopathies, cardiomyopathies, or ischaemic heart disease, and for their families...
September 2016: Nature Reviews. Cardiology
Aaron David Goldman, Laura F Landweber
The genome is often described as the information repository of an organism. Whether millions or billions of letters of DNA, its transmission across generations confers the principal medium for inheritance of organismal traits. Several emerging areas of research demonstrate that this definition is an oversimplification. Here, we explore ways in which a deeper understanding of genomic diversity and cell physiology is challenging the concepts of physical permanence attached to the genome as well as its role as the sole information source for an organism...
July 2016: PLoS Genetics
Julio Saez-Rodriguez, James C Costello, Stephen H Friend, Michael R Kellen, Lara Mangravite, Pablo Meyer, Thea Norman, Gustavo Stolovitzky
The generation of large-scale biomedical data is creating unprecedented opportunities for basic and translational science. Typically, the data producers perform initial analyses, but it is very likely that the most informative methods may reside with other groups. Crowdsourcing the analysis of complex and massive data has emerged as a framework to find robust methodologies. When the crowdsourcing is done in the form of collaborative scientific competitions, known as Challenges, the validation of the methods is inherently addressed...
July 15, 2016: Nature Reviews. Genetics
Gareth J Hollands, David P French, Simon J Griffin, A Toby Prevost, Stephen Sutton, Sarah King, Theresa M Marteau
OBJECTIVE: To assess the impact of communicating DNA based disease risk estimates on risk-reducing health behaviours and motivation to engage in such behaviours. DESIGN: Systematic review with meta-analysis, using Cochrane methods. DATA SOURCES: Medline, Embase, PsycINFO, CINAHL, and the Cochrane Central Register of Controlled Trials up to 25 February 2015. Backward and forward citation searches were also conducted. STUDY SELECTION: Randomised and quasi-randomised controlled trials involving adults in which one group received personalised DNA based estimates of disease risk for conditions where risk could be reduced by behaviour change...
2016: BMJ: British Medical Journal
Jason H Anderson, David J Tester, Melissa L Will, Michael J Ackerman
BACKGROUND: Targeted postmortem genetic testing of the 4 major channelopathy-susceptibility genes (KCNQ1, KCNH2, SCN5A, and RYR2) have yielded putative pathogenic mutations in ≤30% of autopsy-negative sudden unexplained death in the young (SUDY) cases with highest yields derived from the subset of exertion-related SUDY. Here, we evaluate the role of whole-exome sequencing in exertion-related SUDY cases. METHODS AND RESULTS: From 1998 to 2010, 32 cases of exertion-related SUDY were referred by Medical Examiners for a cardiac channel molecular autopsy...
June 2016: Circulation. Cardiovascular Genetics
Elizabeth Bass
No abstract text is available yet for this article.
June 7, 2016: Circulation
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