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https://www.readbyqxmd.com/read/29340884/-i-would-like-to-discuss-it-further-with-an-expert-a-focus-group-study-of-finnish-adults-perspectives-on-genetic-secondary-findings
#1
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, H Kääriäinen, A Haukkala
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome...
January 16, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29339700/assessment-of-the-relationship-between-reperfusion-success-and-t-peak-to-t-end-interval-in-patients-with-st-elevation-myocardial-infarction-treated-with-percutaneous-coronary-intervention
#2
Metin Çağdaş, Süleyman Karakoyun, İbrahim Rencüzoğulları, Yavuz Karabağ, Mahmut Yesin, Yalçın Velibey, İnanç Artaç, Doğan İliş, Süleyman Çağan Efe, Onur Taşar, Halil İbrahim Tanboğa
OBJECTIVE: T-peak-T-end (TPE) interval, which represents the dispersion of repolarization, is defined as the interval between the peak and end of the T-wave, and is associated with increased malignant ventricular arrhythmia and sudden cardiac death (SCD) in patients with ST elevation myocardial infarction (STEMI). Although prolonged TPE interval is associated with poor short- and long-term outcomes, even in patients with STEMI treated with successful primary percutaneous coronary intervention (pPCI), clinical, angiographic, and laboratory parameters that affect TPE remain to be elucidated...
January 2018: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/29339628/downregulation-of-long-non-coding-rna-kcnq1ot1-an-important-mechanism-of-arsenic-trioxide-induced-long-qt-syndrome
#3
Yanan Jiang, Weijie Du, Qun Chu, Ying Qin, Gulnara Tuguzbaeva, Hui Wang, Anqi Li, Guiyang Li, Yanyao Li, Lu Chai, Er Yue, Xi Sun, Zhiguo Wang, Valentin Pavlov, Baofeng Yang, Yunlong Bai
BACKGROUND/AIMS: Arsenic trioxide (ATO) is a known anti-acute promyelocytic leukemia (APL) reagent, whose clinical applications are limited by its serious cardiac toxicity and fatal adverse effects, such as sudden cardiac death resulting from long QT syndrome (LQTS). The mechanisms of cardiac arrhythmia due to ATO exposure still need to be elucidated. Long non-coding RNAs (lncRNAs) are emerging as major regulators of various pathophysiological processes. This study aimed to explore the involvement of lncRNAs in ATO-induced LQTS in vivo and in vitro...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29336400/successful-resolution-with-apixaban-of-a-massive-left-atrial-appendage-thrombus-due-to-nonrheumatic-atrial-fibrillation-a-case-report-and-review
#4
Bader Abu Ghalyoun, Matthew Lempel, Hamid Shaaban, Fayez Shamoon
A 32-year-old woman with a past medical history of paroxysmal atrial fibrillation, long QT syndrome, and implantation of an automatic iimplantable cardioverter-defibrillator (AICD) following cardiac arrest presented with disabling symptoms of paroxysmal atrial fibrillation due to recurrent AICD shocks. Before curative ablation, transesophageal echocardiography was performed to assess for existing thrombi. This is a rare case of successful resolution with apixaban of a massive left atrial appendage thrombus due to non-rheumatic atrial fibrillation that was successfully treated with apixaban...
January 2018: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/29332211/testosterone-mediated-upregulation-of-delayed-rectifier-potassium-channel-in-cardiomyocytes-causes-abbreviation-of-qt-intervals-in-rats
#5
Kimiko Masuda, Hiroki Takanari, Masaki Morishima, FangFang Ma, Yan Wang, Naohiko Takahashi, Katsushige Ono
Men have shorter rate-corrected QT intervals (QTc) than women, especially at the period of adolescence or later. The aim of this study was to elucidate the long-term effects of testosterone on cardiac excitability parameters including electrocardiogram (ECG) and potassium channel current. Testosterone shortened QT intervals in ECG in castrated male rats, not immediately after, but on day 2 or later. Expression of Kv7.1 (KCNQ1) mRNA was significantly upregulated by testosterone in cardiomyocytes of male and female rats...
January 13, 2018: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/29331839/functional-characterization-of-a-novel-herg-variant-in-a-family-with-recurrent-sudden-infant-death-syndrome-retracting-a-genetic-diagnosis
#6
Valentine Sergeev, Frances Perry, Thomas M Roston, Shubhayan Sanatani, Glen F Tibbits, Thomas W Claydon
Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2...
December 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29330129/estradiol-up-regulates-l-type-ca2-channels-via-membrane-bound-estrogen-receptor-phosphoinositide-3kinase-akt-camp-response-element-binding-protein-signaling-pathway
#7
Xiaoyan Yang, Xiaofang Mao, Gao Xu, Shasha Xing, Ansuman Chattopadhyay, Si Jin, Guy Salama
BACKGROUND: In long QT type-2 (LQT2), women are more prone to lethal arrhythmias called Torsade de Pointes (TdP) than men. We previously reported that 17-β-estradiol (E2) upregulates L-type Ca2+-channels and current (ICa,L) (∼30%) in rabbit ventricular myocytes by a classical genomic-mechanism mediated by estrogen-receptor-α (ER)α. In LQT2 ( IKr-blockade or bradycardia), the higher Ca2+ influx via ICa,L, causes Ca2+-overload, spontaneous sarcoplasmic reticulum Ca2+-release, and re-activation of ICa,L that trigger early afterdepolarizations (EADs) and TdP...
January 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29330128/exploiting-ion-channel-structure-to-assess-rare-variant-pathogenicity
#8
Brett M Kroncke, Tao Yang, Prince Kannankeril, M Benjamin Shoemaker, Dan M Roden
BACKGROUND: A 27-year-old female was seen for long QT syndrome. She was found to be a carrier of two variants, KCNQ1 Val162Met and KCNH2 Ser55Leu, and both were annotated as pathogenic by a diagnostic laboratory in part because of sequence proximity to other known pathogenic variants. OBJECTIVE: To assess the relationship between both the KCNQ1 and KCNH2 variants and clinical significance using protein structure, in vitro functional assays, and familial segregation...
January 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29326130/inward-rectifier-potassium-channels-kir2-x-and-caveolin-3-domain-specific-interaction-implications-for-purkinje-cell-dependent-ventricular-arrhythmias
#9
Ravi Vaidyanathan, Hanora Van Ert, Kazi T Haq, Stefano Morotti, Samuel Esch, Elise C McCune, Eleonora Grandi, Lee L Eckhardt
BACKGROUND: In human cardiac ventricle, IK1 is mainly comprised Kir2.1, but Kir2.2 and Kir2.3 heterotetramers occur and modulate IK1. Long-QT syndrome-9-associated CAV3 mutations cause decreased Kir2.1 current density, but Kir2.x heterotetramers have not been studied. Here, we determine the effect of long-QT syndrome-9-CAV3 mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms. METHODS AND RESULTS: Super-resolution microscopy, co-immunoprecipitation, cellular electrophysiology, on-cell Western blotting, and simulation of Purkinje and ventricular myocyte mathematical models were used...
January 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29314443/ryanodine-receptor-inhibition-by-dantrolene-effectively-suppresses-ventricular-arrhythmias-in-an-ex-vivo-model-of-long-qt-syndrome
#10
Gerrit Frommeyer, Julius Krawczyk, Christian Ellermann, Nils Bögeholz, Simon Kochhäuser, Dirk G Dechering, Michael Fehr, Lars Eckardt
AIMS: A significant antiarrhythmic potential of ryanodine receptor inhibition was reported in experimental studies. The aim of the present study was to assess potential antiarrhythmic effects of dantrolene in an experimental whole-heart model of drug-induced long-QT syndrome (LQTS). METHODS: In 12 isolated rabbit hearts long-QT-2-syndrome was simulated by infusion of erythromycin (300μM). 12 rabbit hearts were treated with veratridine (0.5μM) to mimic long-QT-3-syndrome...
January 4, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29309839/predictors-of-ecg-screening-failure-for-the-subcutaneous-implantable-cardioverter-defibrillator-in-children-a-prospective-multi-center-study
#11
Matthew Campbell, Jeremy P Moore, Narayanswami Sreeram, Johannes C von Alvensleben, Anjan Shah, Anjan Batra, Ian Law, Shubhayan Sanatani, Vincent Thomas, Farnoosh Nik-Ahd, Stephen Williams, Nina Nosavan, Jennifer Maldonado, Amelia Hart, Thuan Nguyen, Seshadri Balaji
BACKGROUND: Subcutaneous Implantable Cardioverter Defibrillator (SICD) shows promise for select patients at risk for sudden death. However, patients need to pass an ECG screening (ECG-S) test before they can receive an SICD. Predictors of ECG-S failure in children are unclear. OBJECTIVE: To identify the incidence and predictive factors for failure of ECG-S in children. METHODS: Children ≤18 years with a pre-existing ICD underwent SICD ECG-S...
January 5, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29309742/abnormal-repolarization-duration-during-everyday-emotional-arousal-in-long-qt-syndrome-and-coronary-artery-disease
#12
Richard D Lane, Harry T Reis, Chiu-Hsieh Hsu, Karl B Kern, Jean Philippe Couderc, Arthur J Moss, Wojciech Zareba
BACKGROUND: Rare high arousal negative emotions are known triggers of sudden death in individuals with preexisting heart disease. Whether everyday fluctuations in emotional arousal influence arrhythmia risk is unknown. METHODS: We studied 160 patients with the congenital Long QT Syndrome (LQTS), 199 patients with coronary artery disease, and two groups of matched healthy volunteers (n=53 and 50, respectively). Three-day home visits including a 12-hour Holter recording each day were completed...
January 5, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29305421/fluid-flow-modulates-electrical-activity-in-cardiac-herg-potassium-channels
#13
Samrat Roy, M K Mathew
Fluid movement within the heart generates substantial shear forces, but the effect of this mechanical stress on the electrical activity of the human heart has not been examined. The fast component of the delayed rectifier potassium currents responsible for repolarization of the cardiac action potential, Ikr, is encoded by the hERG channel. Here, we exposed hERG1a channel-expressing HEK293T cells to laminar shear stress (LSS) and observed that this mechanical stress increased the whole-cell current by 30%-40%...
January 5, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29275944/electrocardiographic-patterns-and-long-term-training-induced-time-changes-in-2484-elite-football-players
#14
Olivier Huttin, Christine Selton-Suty, Clément Venner, Jean-Baptiste Vilain, Pierre Rochecongar, Etienne Aliot
BACKGROUND: High-level physical training induces cardiac structural and functional changes, including 12-lead electrocardiogram modifications. OBJECTIVES: The purpose of this cross-sectional longitudinal study was to establish a quantitative electrocardiographic profile in highly trained football players. Initial and serial annual electrocardiogram monitoring over subsequent years allowed us to investigate the long-term effects of exercise on cardiac conduction and electrophysiological remodelling...
December 21, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/29275885/dynamic-qt-interval-changes-from-supine-to-standing-in-healthy-children
#15
Audrey Dionne, Anne Fournier, Nagib Dahdah, Dominic Abrams, Paul Khairy, Sylvia Abadir
BACKGROUND: QT-interval variations in response to exercise-induced increases in heart rate have been reported in children and adults in the diagnosis of long QT syndrome (LQTS). A quick standing challenge has been proposed as an alternative provocative test in adults, with no pediatric data yet available. METHODS: A standing test was performed in 100 healthy children (mean age, 9.7 ± 3.1 years) after 10 minutes in a supine position with continuous electrocardiographic recording...
January 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29258620/refractory-ventricular-fibrillations-after-surgical-repair-of-atrial-septal-defects-in-a-patient-with-cacna1c-gene-mutation-case-report
#16
Ai Kojima, Fumiaki Shikata, Toru Okamura, Takashi Higaki, Seiko Ohno, Minoru Horie, Shunji Uchita, Yujiro Kawanishi, Kenji Namiguchi, Takumi Yasugi, Hironori Izutani
BACKGROUND: Congenital long QT syndrome (LQTS) can cause ventricular arrhythmic events with syncope and sudden death resulting from malignant torsades de pointes (TdP) followed by ventricular fibrillations (VFs). However, the syndrome is often overlooked prior to the development of arrhythmic events in patients with congenital heart diseases demonstrating right bundle branch block on electrocardiogram (ECG). We present a case of an adult patient with congenital heart disease who developed VFs postoperatively, potentially due to his mutation in a LQTS related gene, which was not identified on preoperative assessment due to incomplete evaluation of his family history...
December 19, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/29250293/hypothetical-anatomy-of-brugada-phenomenon-long-qt-sine-long-qt-syndrome-implicating-morphologically-undefined-specific-brugada-s-myocells
#17
REVIEW
Petras Stirbys
The Brugada syndrome (BrS) is associated with increased risk of ventricular arrhythmias and sudden cardiac death. It generates genetically mediated arrhythmias posing a true pathophysiological challenge. In search of the similarities between BrS and long QT syndrome some novel insights are suggested. In patients with BrS the duration of QT interval is usually normal. Some investigators have found prolonged QT interval in the syndrome's natural course or the duration of QT segment have been extended by provocative tests unmasking BrS...
April 2017: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/29241489/hydroquinidine-prevents-life-threatening-arrhythmic-events-in-patients-with-short%C3%A2-qt%C3%A2-syndrome
#18
Andrea Mazzanti, Riccardo Maragna, Gaetano Vacanti, Anna Kostopoulou, Maira Marino, Nicola Monteforte, Raffaella Bloise, Katherine Underwood, Valentina Tibollo, Eleonora Pagan, Carlo Napolitano, Riccardo Bellazzi, Vincenzo Bagnardi, Silvia G Priori
BACKGROUND: Short QT syndrome (SQTS) is a rare and life-threatening arrhythmogenic syndrome characterized by abbreviated repolarization. Hydroquinidine (HQ) prolongs the QT interval in SQTS patients, although whether it reduces cardiac events is currently unknown. OBJECTIVES: This study investigated whether long-term treatment with HQ reduces the occurrence of life-threatening arrhythmic events (LAE) (cardiac arrest or sudden cardiac death) in SQTS patients. METHODS: In this cohort study on consecutive SQTS patients, 2 analyses were performed: 1) a matched-period analysis for the occurrence of LAE in 17 SQTS patients who received long-term HQ; and 2) a comparison of the annual incidence of LAE off- and on-HQ in 16 SQTS patients who survived a cardiac arrest...
December 19, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29241054/effect-of-auxiliary-group-for-p-type-organic-dyes-in-nio-based-dye-sensitized-solar-cells-the-first-principal-study
#19
Juan Li, Shijie Zhang, Di Shao, Zhenqing Yang, Wansong Zhang
Auxiliary acceptor groups play a crucial role in D-A-π-A structured organic dyes. In this paper, we designed three D-A-π-A structured organic molecules based on the prototype dye QT-1, named ME18-ME20, and further investigated their electronic and optical properties with density functional theory (DFT) and time-dependent DFT (TDDFT). The calculated results indicate that the scope and intensity of dyes' absorption spectra have some outstanding changes by inserting auxiliary groups. ME20 has not only 152nm redshifts to long wave orientation, but also 78% increased oscillator strength compared to QT-1, and its absorption spectrum broadens region even up to 1400nm...
December 5, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/29236230/gene-patents-in-canada-is-there-a-new-legal-landscape
#20
Katherine L Bonter, Carmela De Luca, Christi J Guerrini
In 2016, the Children's Hospital of Eastern Ontario (CHEO) announced the settlement of its patent lawsuit against US-based Transgenomic, Inc. At issue in the case was CHEO's ability to test for gene mutations associated with long QT syndrome (LQTS) that are described in Transgenomic's patents. CHEO challenged the patents as invalid, and Transgenomic ultimately agreed to license them on a royalty-free basis to CHEO and other healthcare institutions for LQTS testing and research. While widely celebrated in the media, the ethical rhetoric surrounding the settlement has at times obscured the practical and legal context in which it was made and will operate...
December 13, 2017: Molecular Diagnosis & Therapy
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