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Hiro Health Care Practitioners

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25 papers 0 to 25 followers Hiro website
Tobias Opthof, Carol Ann Remme, Esther Jorge, Francisco Noriega, Rob F Wiegerinck, Arlin Tasiam, Leander Beekman, Jesus Alvarez-Garcia, Cristian Munoz-Guijosa, Ruben Coronel, Juan Cinca
BACKGROUND: The repolarization pattern of the human heart is unknown. OBJECTIVE: We performed a multisite analysis of the activation-repolarization patterns and mRNA expression patterns of ion channel subunits in isolated human hearts. METHODS: Hearts from three donors without reported cardiac disease were Langendorff perfused with the patient's own blood. A standard ECG was obtained prior to explantation. Up to 92 unipolar electrograms from 24 transmural needles were obtained during right atrial pacing...
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
Sofie Lindgren Christiansen, Christin Løth Hertz, Laura Ferrero-Miliani, Morten Dahl, Peter Ejvin Weeke, LuCamp, Gyda Lolk Ottesen, Rune Frank-Hansen, Henning Bundgaard, Niels Morling
In forensic medicine, one-third of the sudden deaths remain unexplained after medico-legal autopsy. A major proportion of these sudden unexplained deaths (SUD) are considered to be caused by inherited cardiac diseases. Sudden cardiac death (SCD) may be the first manifestation of these diseases. The purpose of this study was to explore the yield of next-generation sequencing of genes associated with SCD in a cohort of SUD victims. We investigated 100 genes associated with cardiac diseases in 61 young (1-50 years) SUD cases...
September 21, 2016: European Journal of Human Genetics: EJHG
Joris Robert Vermeesch, Thierry Voet, Koenraad Devriendt
The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially improved embryo selection for in vitro fertilization (IVF). Moreover, both invasive and non-invasive mutation scanning of the genome are helping to identify the genetic causes of prenatal developmental disorders...
September 15, 2016: Nature Reviews. Genetics
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss, Helger Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer
No abstract text is available yet for this article.
October 2016: European Journal of Human Genetics: EJHG
Fausto Barlocco, Iacopo Olivotto
No abstract text is available yet for this article.
August 30, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Arthur A M Wilde, Arthur J Moss, Elizabeth S Kaufman, Wataru Shimizu, Derick R Peterson, Jesaia Benhorin, Coeli Lopes, Jeffrey A Towbin, Carla Spazzolini, Lia Crotti, Wojciech Zareba, Ilan Goldenberg, Jørgen K Kanters, Jennifer L Robinson, Ming Qi, Nynke Hofman, David J Tester, Connie R Bezzina, Marielle Alders, Takeshi Aiba, Shiro Kamakura, Yoshihiro Miyamoto, Mark L Andrews, Scott McNitt, Bronislava Polonsky, Peter J Schwartz, Michael J Ackerman
BACKGROUND: Risk stratification in patients with type 3 long-QT syndrome (LQT3) by clinical and genetic characteristics and effectiveness of β-blocker therapy has not been studied previously in a large LQT3 population. METHODS: The study population included 406 LQT3 patients with 51 sodium channel mutations; 391 patients were known to be event free during the first year of life and were the focus of our study. Clinical, electrocardiographic, and genetic parameters were acquired for patients from 7 participating LQT3 registries...
September 20, 2016: Circulation
David H Birnie, Pablo B Nery, Andrew C Ha, Rob S B Beanlands
Clinically manifest cardiac involvement occurs in perhaps 5% of patients with sarcoidosis. The 3 principal manifestations of cardiac sarcoidosis (CS) are conduction abnormalities, ventricular arrhythmias, and heart failure. An estimated 20% to 25% of patients with pulmonary/systemic sarcoidosis have asymptomatic cardiac involvement (clinically silent disease). In 2014, the first international guideline for the diagnosis and management of CS was published. In patients with clinically manifest CS, the extent of left ventricular dysfunction seems to be the most important predictor of prognosis...
July 26, 2016: Journal of the American College of Cardiology
Jinxiang Zheng, Feng Zhou, Terry Su, Lei Huang, Yeda Wu, Kun Yin, Qiuping Wu, Shuangbo Tang, Jonathan C Makielski, Jianding Cheng
Increasing evidence observed in clinical phenotypes show that abrupt breathing disorders during sleep may play an important role in the pathogenesis of sudden unexplained nocturnal death syndrome (SUNDS). The reported Brugada syndrome causing mutation R1512W in cardiac sodium channel α subunit encoded gene SCN5A, without obvious loss of function of cardiac sodium channel in previous in vitro study, was identified as the first genetic cause of Chinese SUNDS by us. The R1512W carrier was a 38-year-old male SUNDS victim who died suddenly after tachypnea in nocturnal sleep without any structural heart disease...
June 2016: Medicine (Baltimore)
Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P Takahashi, Nicolas Charlet-Berguerand
Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform...
2016: Nature Communications
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
John R Giudicessi, Michael J Ackerman
No abstract text is available yet for this article.
July 2016: Circulation. Arrhythmia and Electrophysiology
Kiran Musunuru, Richard L Haspel
No abstract text is available yet for this article.
June 2016: Circulation. Cardiovascular Genetics
Roy Sriwattanakomen, Kenneth J Mukamal, Alexei Shvilkin
BACKGROUND: QT interval prolongation is a major arrhythmia risk factor. Standard QT interval limits are defined for preserved intrinsic atrioventricular and interventricular conduction. However, ventricular pacing (VP) prolongs the QRS duration, induces electrical remodeling, and therefore obscures the intrinsic QT interval. No consensus exists on QT interval monitoring during VP. OBJECTIVE: The aim of this study was to develop an algorithm to predict the QT interval during intrinsic conduction (IC) from the VP electrocardiogram...
October 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Akira Ueoka, Hiroshi Morita, Atsuyuki Watanabe, Koji Nakagawa, Nobuhiro Nishii, Satoshi Nagase, Tohru Ohe, Hiroshi Ito
BACKGROUND: Clinical and experimental studies have shown the existence of an arrhythmogenic substrate in the right ventricular outflow tract (RVOT) in patients with Brugada syndrome (BrS). To evaluate the importance of the RVOT, we evaluated the activation pattern of induced ventricular tachyarrhythmias using body surface mapping (BSM) in patients with BrS. METHODS AND RESULTS: We examined 14 patients with BrS in whom ventricular tachyarrhythmias were induced by programmed electrical stimulation...
July 25, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
M Juhani Junttila, Eeva Hookana, Kari S Kaikkonen, Marja-Leena Kortelainen, Robert J Myerburg, Heikki V Huikuri
BACKGROUND: Coronary artery disease is identified in ≈80% of victims of sudden cardiac death (SCD). Because the prevention strategies and public awareness have changed during the past decades, we studied the temporal trends in the pathogenesis of SCD. METHODS AND RESULTS: FinGesture (n=4031) is a prospective study designed to classify the phenotype and genotype profiles of SCD in a consecutive series of victims of SCD in Northern Finland. On the basis of Finnish law, all subjects who die suddenly undergo autopsy...
June 2016: Circulation. Arrhythmia and Electrophysiology
Arnon Adler, Michael H Gollob
No abstract text is available yet for this article.
April 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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
Belinda Gray, Richard D Bagnall, Lien Lam, Jodie Ingles, Christian Turner, Eric Haan, Andrew Davis, Pei-Chi Yang, Colleen E Clancy, Raymond W Sy, Christopher Semsarian
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited arrhythmia syndrome characterized by adrenergically stimulated ventricular tachycardia. Mutations in the cardiac ryanodine receptor gene (RYR2) cause an autosomal dominant form of CPVT, while mutations in the cardiac calsequestrin 2 gene (CASQ2) cause an autosomal recessive form. OBJECTIVE: The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant CPVT...
August 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Annalisa Milano, Marieke T Blom, Elisabeth M Lodder, Daniel A van Hoeijen, Julien Barc, Tamara T Koopmann, Abdennasser Bardai, Leander Beekman, Peter Lichtner, Maarten P van den Berg, Arthur A M Wilde, Connie R Bezzina, Hanno L Tan
BACKGROUND: Sudden cardiac arrest (SCA) ranks among the most common causes of death worldwide. Because SCA is most often lethal, yet mostly occurs in individuals without previously known cardiac disease, the identification of patients at risk for SCA could save many lives. In unselected SCA victims from the community, common genetic variants (which are not disease-causing per se, but may increase susceptibility to ventricular fibrillation) are found to be associated with increased SCA risk...
April 2016: Circulation. Cardiovascular Genetics
2016-06-14 04:04:45
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