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https://www.readbyqxmd.com/read/29147785/qt-interval-and-dispersion-in-drug-free-anorexia-nervosa-adolescents-a-case-control-study
#1
Monica Bomba, Lucio Tremolizzo, Fabiola Corbetta, Franco Nicosia, Francesca Lanfranconi, Gianni Poggioli, Karine Goulene, Marco Stramba-Badiale, Elisa Conti, Francesca Neri, Renata Nacinovich
Long QT values have been reported in patients with anorexia nervosa of the restricting type (ANr) potentially increasing the risk of fatal arrhythmia, especially if psychotropic drug treatment is required. Nevertheless, the previous studies on this topic are biased by drug exposure, long disease durations, and small sample sizes. This study is aimed at assessing QTc and QTcd values in ANr adolescents with recent onset and drug free, as compared to subjects affected by psychiatric disorders other than ANr. We evaluated QTc and its dispersion (QTcd) in a population of 77 drug-free ANr female adolescents and compared to an equal number of healthy controls (H-CTRL) and pathological controls (P-CTRL, mixed psychiatric disorders)...
November 16, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/29097701/two-missense-mutations-in-kcnq1-cause-pituitary-hormone-deficiency-and-maternally-inherited-gingival-fibromatosis
#2
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L Andoniadou, Joel A Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29072257/therapeutic-effects-of-a-taurine-magnesium-coordination-compound-on-experimental-models-of-type-2-short-qt-syndrome
#3
Meng-Yao An, Kai Sun, Yan Li, Ying-Ying Pan, Yong-Qiang Yin, Yi Kang, Tao Sun, Hong Wu, Wei-Zhen Gao, Jian-Shi Lou
Short QT syndrome (SQTS) is a genetic arrhythmogenic disease that can cause malignant arrhythmia and sudden cardiac death. The current therapies for SQTS have application restrictions. We previously found that Mg· (NH2CH2CH2SO3)2· H2O, a taurine-magnesium coordination compound (TMCC) exerted anti-arrhythmic effects with low toxicity. In this study we established 3 different models to assess the potential anti-arrhythmic effects of TMCC on type 2 short QT syndrome (SQT2). In Langendorff guinea pig-perfused hearts, perfusion of pinacidil (20 μmol/L) significantly shortened the QT interval and QTpeak and increased rTp-Te (P<0...
October 26, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29070771/imbalance-of-autonomic-nervous-systems-involved-in-ventricular-arrhythmia-after-splenectomy-in-dogs
#4
Nuttika Pastarapatee, Anusak Kijtawornrat, Chollada Buranakarl
The role of cardiac autonomic modulation on ventricular arrhythmia, known as ventricular premature complexes (VPC), after splenectomy was investigated. Twelve dogs undergoing splenectomy were divided into 2 groups: low VPC (<1,000/day, n=6) and high VPC groups (≥1,000/day, n=6). Electrocardiograph recording was performed prior to (D0), during the first three days (D1-3) and on day 9 (D9) after surgery. Arrhythmic indices, Tpeak-Tend , corrected QT interval and short-term variability of QT interval as well as heart rate variability (HRV) were evaluated...
October 26, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29067495/short-term-application-of-tocilizumab-during-myocardial-infarction-stat-mi
#5
Matthew B Carroll, Charles Haller, Christopher Smith
Acute myocardial infarction (MI) occurs when blood supply falls below critical levels and normal cellular maintenance mechanisms fail. Interleukin-6 (IL-6) is a proinflammatory cytokine released in MI and associated with poor clinical outcomes. Tocilizumab (TCZ) is a humanized monoclonal antibody against the IL-6 receptor. In a randomized, double-blinded, placebo controlled trial we assigned subjects admitted with MI a single TCZ dose of 162 mg subcutaneously vs. placebo in addition to standard of care medications and interventions...
October 24, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29060841/modeling-the-effects-of-amiodarone-on-short-qt-syndrome-variant-2-in-the-human-ventricles
#6
Cunjin Luo, Kuanquan Wang, Henggui Zhang
AIMS: The short QT syndrome (SQTS) is a new genetic disorder associated with atrial and ventricular arrhythmias and sudden death. The SQT2, SQTS variant, results from a gain-of-function mutation (V307L) in the KCNQ1-encoded potassium channel. Although pro-arrhythmogenic effects of SQTS have been characterized, less is known about the pharmacology of SQTS. Therefore, this study aims to assess the effects of amiodarone on SQT2. METHODS AND RESULTS: The ten Tusscher et al...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29060698/effects-of-island-distribution-of-mid-cardiomyocytes-on-ventricular-electrical-excitation-associated-with-the-kcnq1-linked-short-qt-syndrome
#7
Cunjin Luo, Kuanquan Wang, Henggui Zhang
AIMS: Short QT syndrome (SQTS) is a new genetic disorder of the electrical system of the heart. To date, there are six gene mutations in ion channels underlying SQTS. However, functional effects of spatial heterogeneities, such as island-distribution of mid-cardiomyocytes (M island) on ventricular electrical excitation in SQTS condition are poorly understood or even not understood at all. Therefore, this study used computational modelling to investigate such possible effects. METHODS: The spatial heterogeneities of ventricular tissue was studied by using ten Tusscher et al...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29042423/low-prevalence-of-inappropriate-shocks-in-patients-with-inherited-arrhythmia-syndromes-with-the-subcutaneous-implantable-defibrillator-single-center-experience-and-long-term-follow-up
#8
Boris Rudic, Erol Tülümen, Veronika Berlin, Susanne Röger, Ksenija Stach, Volker Liebe, Ibrahim El-Battrawy, Christina Dösch, Theano Papavassiliu, Ibrahim Akin, Martin Borggrefe, Jürgen Kuschyk
BACKGROUND: Up to 40% of patients with transvenous implantable cardioverter-defibrillator (ICD) experience lead-associated complications and may suffer from high complication rates when lead extraction is indicated. Subcutaneous ICD may represent a feasible alternative; however, the efficacy of the subcutaneous ICD in the detection and treatment of ventricular arrhythmias in patients with hereditary arrhythmia syndromes has not been fully evaluated. METHODS AND RESULTS: Patients with primary hereditary arrhythmia syndromes who fulfilled indication for defibrillator placement were eligible for enrollment...
October 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29021866/criteria-for-short-qt-interval-based-on-a-new-qt-heart-rate-adjustment-formula
#9
Simon W Rabkin
BACKGROUND: A short QT interval, within which an increased risk for atrial fibrillation and/or fatal cardiac arrhythmias occurs, has been difficult to define. METHODS: The lower percentiles of a new QTc formula were determined, using a precise mathematical fitting of the QT-heart rate relationship from the ECGs of 13,600 individuals from the NHANES II and III surveys. RESULTS: The QTc interval for persons in the lower fifth percentile, second (2...
October 2017: Journal of Arrhythmia
https://www.readbyqxmd.com/read/29016797/multiple-clinical-profiles-of-families-with-the-short-qt-syndrome
#10
D Akdis, A M Saguner, A Medeiros-Domingo, A Schaller, C Balmer, J Steffel, C Brunckhorst, F Duru
Aims: Short QT syndrome (SQTS) is a rare cardiac channelopathy characterized by a shortened corrected QT (QTc)-interval that can lead to ventricular arrhythmias and sudden cardiac death. The aim of this study was to investigate the clinical phenotypes and long-term outcomes of three families harbouring genetic mutations associated with the SQTS. Methods and results: Clinical data included medical history, physical examination, 12-lead ECG, 24-h Holter-ECG, and transthoracic echocardiography from three index patients and their first-degree relatives...
July 19, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29016765/broad-antiarrhythmic-effect-of-mexiletine-in-different-arrhythmia-models
#11
Gerrit Frommeyer, Jonas Garthmann, Christian Ellermann, Dirk G Dechering, Simon Kochhäuser, Florian Reinke, Julia Köbe, Kristina Wasmer, Lars Eckardt
Aims: Experimental studies and clinical reports suggest antiarrhythmic properties of mexiletine in different arrhythmias. We aimed at investigating mexiletine in experimental models of atrial fibrillation (AF) as well as in long-QT- (LQTS) and short-QT-syndrome (SQTS). Methods and results: In 15 isolated rabbit hearts, erythromycin (300 µM) was infused for simulation of long-QT-2-syndrome. In further 13 hearts, veratridine was administered to simulate long-QT-3-syndrome...
August 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28992529/a-comprehensive-structural-model-for-the-human-kcnq1-kcne1-ion-channel
#12
Horia Jalily Hasani, Marawan Ahmed, Khaled Barakat
The voltage-gated KCNQ1/KCNE1 potassium ion channel complex, forms the slow delayed rectifier (IKs) current in the heart, which plays an important role in heart signaling. The importance of KCNQ1/KCNE1 channel's function is further implicated by the linkage between loss-of-function and gain-of-function mutations in KCNQ1 or KCNE1, and long QT syndromes, congenital atrial fibrillation, and short QT syndrome. Also, KCNQ1/KCNE1 channels are an off-target for many non-cardiovascular drugs, leading to fatal cardiac irregularities...
September 29, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28966985/the-pharmacogenomics-of-a-mutation-hotspot-for-the-short-qt-syndrome
#13
Dawood Darbar, Mark McCauley
No abstract text is available yet for this article.
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/28954836/impact-of-qtc-formulae-in-the-prevalence-of-short-corrected-qt-interval-and-impact-on-probability-and-diagnosis-of-short-qt-syndrome
#14
Rui Providência, Nabeela Karim, Neil Srinivasan, Shohreh Honarbakhsh, Maria João Vidigal Ferreira, Lino Gonçalves, Eloi Marijon, Pier D Lambiase
OBJECTIVE: To assess the prevalence of short corrected QT (QTc) intervals and its impact on short QT syndrome (SQTS) diagnosis using different QT correction formulae. METHODS: Observational study. The prevalence of short QTc intervals was estimated using four different QT correction formulae in 14 662 young adults from the 'Sudden Cardiac Death Screening of Risk FactOrS' (SCD-SOS) cohort. Then, using data from this cohort and the pooled-cohort analysed by Gollob et al, comprising 61 patients with SQTS, we assessed the impact of the different QTc correction formulae on SQTS probability and diagnosis based on the Expert Consensus recommendations (QTc ≤330 ms or QTc 330-360 ms+1 additional risk feature)...
September 27, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28912179/classification-epidemiology-and-global-burden-of-cardiomyopathies
#15
REVIEW
William J McKenna, Barry J Maron, Gaetano Thiene
In the past 25 years, major advances were achieved in the nosography of cardiomyopathies, influencing the definition and taxonomy of this important chapter of cardiovascular disease. Nearly, 50% of patients dying suddenly in childhood or adolescence or undergoing cardiac transplantation are affected by cardiomyopathies. Novel cardiomyopathies have been discovered (arrhythmogenic, restrictive, and noncompacted) and added to update the World Health Organization classification. Myocarditis has also been named inflammatory cardiomyopathy...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28904293/characteristics-of-electromechanical-window-in-anesthetized-rabbit-models-of-short-qt-and-long-qt-syndromes
#16
Vudhiporn Limprasutr, Nakkawee Saengklub, Pradtana Meedech, Anusak Kijtawornrat, Robert L Hamlin
The current regulatory guidelines recommend the use of QT interval to assess the risk of arrhythmogenic potential of new chemical entities. Recently, the electromechanical window (EMW), the difference in duration between electrical and mechanical systole, has been proposed as markers for drug-induced torsades de pointes (TdP); however, data of EMW in short QT model are not available. This study aimed to characterize the EMW as a marker for drug-induced ventricular arrhythmias in anesthetized rabbit model of long QT syndrome type 2 (LQT2) and short QT syndrome (SQTS) infused with reference compounds known to lengthen or shorten QT intervals...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/28827816/circadian-pattern-of-short-term-variability-of-the-qt-interval-in-primary-prevention-icd-patients-eu-cert-icd-methodological-pilot-study
#17
David J Sprenkeler, Anton E Tuinenburg, Henk J Ritsema van Eck, Marek Malik, Markus Zabel, Marc A Vos
OBJECTIVE: Short-term variability of the QT-interval (STV-QT) was shown to be associated with an increased risk of ventricular arrhythmias. We aimed at investigating (a) whether STV-QT exhibits circadian pattern, and (b) whether such pattern differs between patients with high and low arrhythmia risk. METHODS: As part of the ongoing EU-CERT-ICD study, 24h high resolution digital ambulatory 12-lead Holter recordings are collected prior to ICD implantation for primary prophylactic indication...
2017: PloS One
https://www.readbyqxmd.com/read/28827789/positional-cloning-of-quantitative-trait-nucleotides-for-blood-pressure-and-cardiac-qt-interval-by-targeted-crispr-cas9-editing-of-a-novel-long-non-coding-rna
#18
Xi Cheng, Harshal Waghulde, Blair Mell, Eric E Morgan, Shondra M Pruett-Miller, Bina Joe
Multiple GWAS studies have reported strong association of cardiac QT-interval to a region on HSA17. Interestingly, a rat locus homologous to this region is also linked to QT-intervals. The high resolution positional mapping study located the rat QT-interval locus to a <42.5kb region on RNO10. This region contained no variants in protein-coding sequences, but a prominent contiguous 19bp indel polymorphism was noted within a novel predicted long non-coding RNA (lncRNA), which we named as Rffl-lnc1. To assess the candidacy of this novel lncRNA on QT-interval, targeted CRISPR/Cas9 based genome-engineering approaches were applied on the rat strains used to map this locus...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28814790/in-silico-investigation-of-a-kcnq1-mutation-associated-with-short-qt-syndrome
#19
Ismail Adeniran, Dominic G Whittaker, Aziza El Harchi, Jules C Hancox, Henggui Zhang
Short QT syndrome (SQTS) is a rare condition characterized by abnormally 'short' QT intervals on the ECG and increased susceptibility to cardiac arrhythmias and sudden death. This simulation study investigated arrhythmia dynamics in multi-scale human ventricle models associated with the SQT2-related V307L KCNQ1 'gain-of-function' mutation, which increases slow-delayed rectifier potassium current (IKs). A Markov chain (MC) model recapitulating wild type (WT) and V307L mutant IKs kinetics was incorporated into a model of the human ventricular action potential (AP) for investigation of QT interval changes and arrhythmia substrates...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28812984/modelling-the-effects-of-quinidine-disopyramide-and-e-4031-on-short-qt-syndrome-variant-3-in-the-human-ventricles
#20
Cunjin Luo, Kuanquan Wang, Henggui Zhang
Short QT syndrome (SQTS) is an inherited cardiac channelopathy, but at present little information is available on its pharmacological treatment. SQT3 variant (linked to the inward rectifier potassium current IK1) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF). Using biophysically-detailed human ventricular computer models, this study investigated the potential effects of quinidine, disopyramide, and E-4031 on SQT3...
August 16, 2017: Physiological Measurement
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