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https://www.readbyqxmd.com/read/28917554/founder-populations-with-channelopathies-and-church-records-reveal-all-sorts-of-interesting-secrets-some-are-scientifically-relevant
#1
EDITORIAL
Peter J Schwartz, Lia Crotti
No abstract text is available yet for this article.
September 13, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28913817/return-to-play-in-2017-and-the-role-of-shared-decision-making-in-patients-with-inherited-and-acquired-channelopathies-and-cardiomyopathies
#2
REVIEW
Kia Afshar, T Jared Bunch
Shared decision-making is based upon a physician-patient encounter in which there is adequate education using aids if needed, a mutual discussion of how to assist the patient in weighing risks and benefits, and a supportive environment that allows the patient to deliberate on the clinical decision and make their own choice. This decision-making paradigm centers on the principles of autonomy and self-determination. Physical activity is a critical part of healthy lifestyle choices that helps lower risk of cardiovascular disease or the progression of it...
September 14, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28912179/classification-epidemiology-and-global-burden-of-cardiomyopathies
#3
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/28884460/potassium-channels-a-potential-therapeutic-target-for-parkinson-s-disease
#4
REVIEW
Xiaoyan Chen, Bao Xue, Jun Wang, Haixia Liu, Limin Shi, Junxia Xie
The pathogenesis of the second major neurodegenerative disorder, Parkinson's disease (PD), is closely associated with the dysfunction of potassium (K(+)) channels. Therefore, PD is also considered to be an ion channel disease or neuronal channelopathy. Mounting evidence has shown that K(+) channels play crucial roles in the regulations of neurotransmitter release, neuronal excitability, and cell volume. Inhibition of K(+) channels enhances the spontaneous firing frequency of nigral dopamine (DA) neurons, induces a transition from tonic firing to burst discharge, and promotes the release of DA in the striatum...
September 7, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28865303/defects-at-the-crossroads-of-gabaergic-signaling-in-generalized-genetic-epilepsies
#5
REVIEW
Jing-Qiong Kang
Seizure disorders are very common and affect 3% of the general population. The recurrent unprovoked seizures that are also called epilepsies are highly diverse as to both underlying genetic basis and clinic presentations. Recent genetic advances and sequencing technologies indicate that many epilepsies previously thought to be without known causes, or idiopathic generalized epilepsies (IGEs), are virtually genetic epilepsy as they are caused by genetic variations. IGEs are estimated to account for ∼15-20% of all epilepsies...
August 26, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28855170/a-wide-and-specific-spectrum-of-genetic-variants-and-genotype-phenotype-correlations-revealed-by-next-generation-sequencing-in-patients-with-left-ventricular-noncompaction
#6
Ce Wang, Yukiko Hata, Keiichi Hirono, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Kazuyoshi Saito, Nariaki Miyao, Mako Okabe, Keijiro Ibuki, Naoki Nishida, Hideki Origasa, Xianyi Yu, Neil E Bowles, Fukiko Ichida
BACKGROUND: Left ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next-generation sequencing and to evaluate genotype-phenotype correlations in LVNC patients. METHODS AND RESULTS: Using next-generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients...
August 30, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28851973/frequency-dependent-drug-screening-using-optogenetic-stimulation-of-human-ipsc-derived-cardiomyocytes
#7
Hendrik Lapp, Tobias Bruegmann, Daniela Malan, Stephanie Friedrichs, Carsten Kilgus, Alexandra Heidsieck, Philipp Sasse
Side effects on cardiac ion channels are one major reason for new drugs to fail during preclinical evaluation. Herein we propose a simple optogenetic screening tool measuring extracellular field potentials (FP) from paced cardiomyocytes to identify drug effects over the whole physiological heart range, which is essential given the rate-dependency of ion channel function and drug action. Human induced pluripotent stem cell-derived cardiomyocytes were transduced with an adeno-associated virus to express Channelrhodopsin2 and plated on micro-electrode arrays...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28851804/fkbp-association-with-ryr-channels-effect-of-clic2-binding-on-sub-conductance-opening-and-fkbp-binding
#8
Spencer J Richardson, Gregory A Steele, Esther M Gallant, Alexander Lam, Charles E Schwartz, Philip G Board, Marco G Casarotto, Nicole A Beard, Angela F Dulhunty
Ryanodine receptor (RyR) calcium channels are central to striated muscle function and influence signalling in neurones and other cell types. Beneficially low RyR activity and maximum conductance opening may be stabilised when RyRs bind to FK506 binding proteins (FKBPs) and destabilised by FKBP dissociation, with submaximal opening during RyR hyperactivity associated with myopathies and neurological disorders. However this is debated and quantitative evidence is lacking. Here we have measured altered FKBP binding to RyRs and submaximal activity with addition of wild-type (WT) CLIC2, an inhibitory RyR ligand, or its H101Q mutant that hyperactivates RyRs, likely causing cardiac and intellectual abnormalities...
August 29, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28841083/hypokalaemia-periodic-paralysis
#9
Liam J Stapleton
Hypokalaemic periodic paralysis is a rare skeletal muscle channelopathy causing flaccid paralysis, which predominantly presents in adolescents and young adults. I report a case of a 33-year-old Caucasian man who presented with sudden onset paralysis, following previous similar presentations without investigation. Blood tests revealed undetectable serum potassium levels in the context of paralysis. Other causes of hypokalaemia were excluded, and the patient was treated with planned lifelong prophylactic potassium replacement for a diagnosis of primary hypokalaemic periodic paralysis...
January 1, 2017: Scottish Medical Journal
https://www.readbyqxmd.com/read/28821499/primary-ventricular-tachycardia-in-paediatric-population-in-a-tertiary-centre
#10
Shuenn-Nan Chiu, Wei-Lun Wu, Chun-Wei Lu, Wei-Chieh Tseng, Kun-Lang Wu, Jou-Kou Wang, Mei-Hwan Wu
OBJECTIVE: To delineate the outcome of ventricular tachycardia (VT) in the paediatric population. METHODS: Patients who developed sustained VT between the ages of 0 and 18 years in a referral centre from 1991 to 2015 were enrolled. RESULTS: A total of 116 patients (67 male/49 female) had documented VT, and 53 (46%) had associated heart disease, namely cardiomyopathy in 20 (17%), structural heart disease in 19 (16%) and channelopathy in 14 (12%), and some of them presented with two types of associated heart disease...
August 18, 2017: Archives of Disease in Childhood
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
#11
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
https://www.readbyqxmd.com/read/28810874/sudden-cardiac-death-focus-on-the-genetics-of-channelopathies-and-cardiomyopathies
#12
REVIEW
Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso, Santo Gratteri
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope...
August 15, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28801377/ethnic-differences-in-genetic-ion-channelopathies-associated-with-sudden-cardiac-death-a-systematic-review-and-meta-analysis
#13
Tim Kong, Joseph Feulefack, Kim Ruether, Fan Shen, Wang Zheng, Xing-Zhen Chen, Consolato Sergi
BACKGROUND AND AIMS: Reports of allele frequencies encoding ion channel, or their interacting proteins associated with sudden cardiac death among different ethnic groups have been inconsistent. Here, we aimed to characterize the distribution of these genes and their alleles among various ethnicities through meta-analysis. METHODS: We conducted a systematic review and meta-analysis to assess the mean allele frequencies of channelopathy genes SCN5A, NOS1AP, KCNH2, KCNE1, and KCNQ1 among the Black, Caucasian, Asian, and Hispanic ethnicities...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28767663/contribution-of-exome-sequencing-for-genetic-diagnostic-in-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia
#14
Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch
BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2. The genetic cause remains unknown in ~50% of probands with routine desmosomal gene screening. The aim of this study was to assess the diagnostic accuracy of whole exome sequencing (WES) in ARVC/D with negative genetic testing. METHODS: WES was performed in 22 patients, all without a mutation identified in desmosomal genes...
2017: PloS One
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#15
Gaetano Vacanti, Riccardo Maragna, Silvia G Priori, Andrea Mazzanti
PURPOSE OF REVIEW: In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called 'channelopathies' that are associated with sudden cardiac death (SCD) in children: long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). RECENT FINDINGS: We will discuss the latest diagnostic criteria for channelopathies released by the European Society of Cardiology, the new data on BrS in children and the recent evidence supporting a genotype-specific therapy for LQTS type 3...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28757052/genetics-update-monogenetics-polygene-disorders-and-the-quest-for-modifying-genes
#16
REVIEW
Joseph D Symonds, Sameer M Zuberi
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships. In this review we give an overview of the factors that influence genotype-phenotype relationships across this group of diseases as a whole, using specific individual channelopathies as examples. We suggest reasons for the limitations observed in these relationships. We discuss the role of ion channel variation in polygenic disease and highlight research that has contributed to unravelling the complex aetiological nature of these conditions...
July 27, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28756098/phenotypic-variability-in-lqt3-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-and-their-response-to-antiarrhythmic-pharmacologic-therapy-an-in-silico-approach
#17
Michelangelo Paci, Elisa Passini, Stefano Severi, Jari Hyttinen, Blanca Rodriguez
BACKGROUND: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are in vitro models with the clear advantages of their human origin and suitability for human disease investigations. However, limitations include their incomplete characterization and variability reported in different cell lines and laboratories. OBJECTIVE: The purpose of this study was to investigate in silico ionic mechanisms potentially explaining the phenotypic variability of hiPSC-CMs in long QT syndrome type 3 (LQT3) and their response to antiarrhythmic drugs...
July 27, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28750076/targeted-next-generation-sequencing-detects-novel-gene-phenotype-associations-and-expands-the-mutational-spectrum-in-cardiomyopathies
#18
Cinzia Forleo, Anna Maria D'Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC), with higher morbidity and mortality. These diseases are genetically diverse and associated with rare mutations in a large number of genes, many of which overlap among the phenotypes. To better investigate the genetic overlap between these three phenotypes and to identify new genotype-phenotype correlations, we designed a custom gene panel consisting of 115 genes known to be associated with cardiomyopathic phenotypes and channelopathies...
2017: PloS One
https://www.readbyqxmd.com/read/28728690/contemporary-outcomes-in-patients-with%C3%A2-long-qt-syndrome
#19
Ram K Rohatgi, Alan Sugrue, J Martijn Bos, Bryan C Cannon, Samuel J Asirvatham, Christopher Moir, Heidi J Owen, Katy M Bos, Teresa Kruisselbrink, Michael J Ackerman
BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal cardiac channelopathy with a 1% to 5% annual risk of LQTS-triggered syncope, aborted cardiac arrest, or sudden cardiac death. OBJECTIVES: This study sought to evaluate LQTS outcomes from a single center in the contemporary era. METHODS: The authors conducted a retrospective study comprising the 606 patients with LQTS (LQT1 in 47%, LQT2 in 34%, and LQT3 in 9%) who were evaluated in Mayo Clinic's Genetic Heart Rhythm Clinic from January 1999 to December 2015...
July 25, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28728269/-calcium-sensitive-potassium-channelopathy-with-de-novo-kcnma1-mutation-a-case-report
#20
(no author information available yet)
No abstract text is available yet for this article.
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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