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Hiro Health Care Practitioners

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38 papers 0 to 25 followers Hiro website
https://www.readbyqxmd.com/read/27161030/exercise-training-prevents-ventricular-tachycardia-in-cpvt1-due-to-reduced-camkii-dependent-arrhythmogenic-ca2-release
#1
Ravinea Manotheepan, Tore K Danielsen, Mani Sadredini, Mark E Anderson, Cathrine R Carlson, Stephan E Lehnart, Ivar Sjaastad, Mathis K Stokke
AIMS: Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is caused by mutations in the cardiac ryanodine receptor (RyR2) that lead to disrupted Ca(2+) handling in cardiomyocytes and ventricular tachycardia. The aim of this study was to test whether exercise training could reduce the propensity for arrhythmias in mice with the CPVT1-causative missense mutation Ryr2-R2474S by restoring normal Ca(2+) handling. METHODS AND RESULTS: Ryr2-R2474S mice (RyR-RS) performed a 2 week interval treadmill exercise training protocol...
August 1, 2016: Cardiovascular Research
https://www.readbyqxmd.com/read/27542394/development-and-validation-of-a-sudden-cardiac-death-prediction-model-for-the-general-population
#2
Rajat Deo, Faye L Norby, Ronit Katz, Nona Sotoodehnia, Selcuk Adabag, Christopher R DeFilippi, Bryan Kestenbaum, Lin Y Chen, Susan R Heckbert, Aaron R Folsom, Richard A Kronmal, Suma Konety, Kristen K Patton, David Siscovick, Michael G Shlipak, Alvaro Alonso
BACKGROUND: Most sudden cardiac death (SCD) events occur in the general population among persons who do not have any prior history of clinical heart disease. We sought to develop a predictive model of SCD among US adults. METHODS: We evaluated a series of demographic, clinical, laboratory, electrocardiographic, and echocardiographic measures in participants in the ARIC study (Atherosclerosis Risk in Communities) (n=13 677) and the CHS (Cardiovascular Health Study) (n=4207) who were free of baseline cardiovascular disease...
September 13, 2016: Circulation
https://www.readbyqxmd.com/read/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#3
REVIEW
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27915266/systematic-ajmaline-challenge-in-patients-with-long-qt-3-syndrome-caused-by-the-most-common-mutation-a-multicentre-study
#4
Stephan Hohmann, Boris Rudic, Torsten Konrad, David Duncker, Thorben König, Erol Tülümen, Thomas Rostock, Martin Borggrefe, Christian Veltmann
AIMS: Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. METHODS AND RESULTS: Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study...
December 2, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/27654714/medico-legal-perspectives-on-sudden-cardiac-death-in-young-athletes
#5
Antonio Oliva, Vincenzo M Grassi, Oscar Campuzano, Maria Brion, Vincenzo Arena, Sara Partemi, Monica Coll, Vincenzo L Pascali, Josep Brugada, Angel Carracedo, Ramon Brugada
Sudden cardiac death (SCD) in a young athlete represents a dramatic event, and an increasing number of medico-legal cases have addressed this topic. In addition to representing an ethical and medico-legal responsibility, prevention of SCD is directly correlated with accurate eligibility/disqualification decisions, with an inappropriate pronouncement in either direction potentially leading to legal controversy. This review summarizes the common causes of SCD in young athletes, divided into structural (hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, congenital coronary artery anomalies, etc...
September 21, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/26582592/genetic-testing-and-genetic-counseling-in-patients-with-sudden-death-risk-due-to-heritable-arrhythmias
#6
Katherine G Spoonamore, Stephanie M Ware
Sudden cardiac death due to heritable ventricular arrhythmias is an important cause of mortality, especially in young healthy individuals. The identification of the genetic basis of Mendelian diseases associated with arrhythmia has allowed the integration of this information into the diagnosis and clinical management of patients and at-risk family members. The rapid expansion of genetic testing options and the increasing complexity involved in the interpretation of results creates unique opportunities and challenges...
March 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27482086/leaky-ryr2-channels-unleash-a-brainstem-spreading-depolarization-mechanism-of-sudden-cardiac-death
#7
Isamu Aiba, Xander H T Wehrens, Jeffrey L Noebels
Cardiorespiratory failure is the most common cause of sudden unexplained death in epilepsy (SUDEP). Genetic autopsies have detected "leaky" gain-of-function mutations in the ryanodine receptor-2 (RyR2) gene in both SUDEP and sudden cardiac death cases linked to catecholaminergic polymorphic ventricular tachycardia that feature lethal cardiac arrhythmias without structural abnormality. Here we find that a human leaky RyR2 mutation, R176Q (RQ), alters neurotransmitter release probability in mice and significantly lowers the threshold for spreading depolarization (SD) in dorsal medulla, leading to cardiorespiratory collapse...
August 16, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27739532/organization-and-function-of-the-3d-genome
#8
Boyan Bonev, Giacomo Cavalli
Understanding how chromatin is organized within the nucleus and how this 3D architecture influences gene regulation, cell fate decisions and evolution are major questions in cell biology. Despite spectacular progress in this field, we still know remarkably little about the mechanisms underlying chromatin structure and how it can be established, reset and maintained. In this Review, we discuss the insights into chromatin architecture that have been gained through recent technological developments in quantitative biology, genomics and cell and molecular biology approaches and explain how these new concepts have been used to address important biological questions in development and disease...
October 14, 2016: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/27626620/the-emerging-role-of-calmodulin-regulation-of-ryr2-in-controlling-heart-rhythm-the-progression-of-heart-failure-and-the-antiarrhythmic-action-of-dantrolene
#9
Kafa Walweel, Ye Win Oo, Derek R Laver
Cardiac output and rhythm depend on the release and the take-up of calcium from the sarcoplasmic reticulum (SR). Excessive diastolic calcium leak from the SR due to dysfunctional calcium release channels (RyR2) contributes to the formation of delayed after-depolarisations, which underlie the fatal arrhythmias that occur in heart failure and inherited syndromes. Calmodulin (CaM) is a calcium-binding protein that regulates target proteins and acts as a calcium sensor. CaM is comprised of two calcium binding EF-hand domains and a flexible linker...
September 14, 2016: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/27318036/camkii-dependent-phosphorylation-of-ryr2-promotes-targetable-pathological-ryr2-conformational-shift
#10
Hitoshi Uchinoumi, Yi Yang, Tetsuro Oda, Na Li, Katherina M Alsina, Jose L Puglisi, Ye Chen-Izu, Razvan L Cornea, Xander H T Wehrens, Donald M Bers
Diastolic calcium (Ca) leak via cardiac ryanodine receptors (RyR2) can cause arrhythmias and heart failure (HF). Ca/calmodulin (CaM)-dependent kinase II (CaMKII) is upregulated and more active in HF, promoting RyR2-mediated Ca leak by RyR2-Ser2814 phosphorylation. Here, we tested a mechanistic hypothesis that RyR2 phosphorylation by CaMKII increases Ca leak by promoting a pathological RyR2 conformation with reduced CaM affinity. Acute CaMKII activation in wild-type RyR2, and phosphomimetic RyR2-S2814D (vs. non-phosphorylatable RyR2-S2814A) knock-in mouse myocytes increased SR Ca leak, reduced CaM-RyR2 affinity, and caused a pathological shift in RyR2 conformation (detected via increased access of the RyR2 structural peptide DPc10)...
September 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27821149/understanding-rare-and-common-diseases-in-the-context-of-human-evolution
#11
REVIEW
Lluis Quintana-Murci
The wealth of available genetic information is allowing the reconstruction of human demographic and adaptive history. Demography and purifying selection affect the purge of rare, deleterious mutations from the human population, whereas positive and balancing selection can increase the frequency of advantageous variants, improving survival and reproduction in specific environmental conditions. In this review, I discuss how theoretical and empirical population genetics studies, using both modern and ancient DNA data, are a powerful tool for obtaining new insight into the genetic basis of severe disorders and complex disease phenotypes, rare and common, focusing particularly on infectious disease risk...
November 7, 2016: Genome Biology
https://www.readbyqxmd.com/read/27787510/genome-variation-for-non-geneticists
#12
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
October 27, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27756708/a-type-2-ryanodine-receptor-variant-associated-with-reduced-ca-2-release-and-short-coupled-torsade-de-pointe-ventricular-arrhythmia
#13
Yusuke Fujii, Hideki Itoh, Seiko Ohno, Takashi Murayama, Nagomi Kurebayashi, Hisaaki Aoki, Malorie Blancard, Yoshihisa Nakagawa, Satoshi Yamamoto, Yumie Matsui, Mari Ichikawa, Keiko Sonoda, Tomoya Ozawa, Kimie Ohkubo, Ichiro Watanabe, Pascale Guicheney, Minoru Horie
BACKGROUND: Ventricular fibrillation (VF) may be caused by premature ventricular contractions (PVCs) whose coupling intervals are under 300ms, a characteristic of scTdP. OBJECTIVE: The purpose of this study is to analyze the underlying RyR2 variants in patients with the short-coupled variant of torsade de pointes (scTdP). METHODS: Seven patients with scTdP (34±12 years old, 3 females) were enrolled in this study. The RyR2 gene was screened by targeted gene sequencing methods, and variant minor allele frequency (MAF) was confirmed in three databases, and the pathogenicity was investigated in multiple in silico tools...
October 15, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27737802/cardiac-activation-repolarization-patterns-and-ion-channel-expression-mapping-in-intact-isolated-normal-human-hearts
#14
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: The purpose of this study was to perform a multisite analysis of the activation-repolarization patterns and mRNA expression patterns of ion channel subunits in isolated human hearts. METHODS: Hearts from 3 donors without reported cardiac disease were Langendorff perfused with the patient's own blood. A standard ECG was obtained before explantation. Up to 92 unipolar electrograms from 24 transmural needles were obtained during right atrial pacing...
October 11, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27672144/enhancing-literacy-in-cardiovascular-genetics-a-scientific-statement-from-the-american-heart-association
#15
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...
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27650965/genetic-investigation-of-100-heart-genes-in-sudden-unexplained-death-victims-in-a-forensic-setting
#16
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
https://www.readbyqxmd.com/read/27629932/prenatal-and-pre-implantation-genetic-diagnosis
#17
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
https://www.readbyqxmd.com/read/27628564/guidelines-for-diagnostic-next-generation-sequencing
#18
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
https://www.readbyqxmd.com/read/27590433/can-anthropology-improve-our-care-of-inherited-cardiac-arrhythmias-a-modest-proposal
#19
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
https://www.readbyqxmd.com/read/27566755/clinical-aspects-of-type-3-long-qt-syndrome-an-international-multicenter-study
#20
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
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