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https://www.readbyqxmd.com/read/28340026/high-rate-of-subcutaneous-implantable-cardioverter-defibrillator-sensing-screening-failure-in-patients-with-brugada-syndrome-a-comparison-with-other-inherited-primary-arrhythmia-syndromes
#1
Giulio Conte, Mihoko Kawabata, Carlo de Asmundis, Erika Taravelli, Francesco Petracca, Diego Ruggiero, Maria Luce Caputo, François Regoli, Gian-Battista Chierchia, Alessandra Chiodini, Alessandro Del Bufalo, Tiziano Moccetti, Masahiko Goya, Kenzo Hirao, Alessandro Vicentini, Gaetano M De Ferrari, Pedro Brugada, Angelo Auricchio
Aims: Subcutaneous implantable cardioverter-defibrillator (S-ICD) can avoid important complications associated with transvenous leads in patients with inherited primary arrhythmia syndromes, who do not need pacing therapy. Few data are available on the percentage of patients with inherited arrhythmia syndromes eligible for S-ICD implantation. Aim of this study was to analyse the eligibility for S-ICD in a series of patients with Brugada syndrome (BrS), and to compare it with patients with other channelopathies...
March 7, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28336205/andersen-tawil-syndrome-clinical-presentation-and-predictors-of-symptomatic-arrhythmias-possible-role-of-polymorphisms-k897t-in-kcnh2-and-h558r-in-scn5a-gene
#2
Michalina Krych, Elżbieta Katarzyna Biernacka, Joanna Ponińska, Piotr Kukla, Artur Filipecki, Robert Gajda, Can Hasdemir, Charles Antzelevitch, Agnieszka Kosiec, Małgorzata Szperl, Rafał Płoski, Maria Trusz-Gluza, Katarzyna Mizia-Stec, Piotr Hoffman
BACKGROUND: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS. METHODS: This study consisted of 11 probands positive for KCNJ2 variants and 33 family members (mean age 30.0±17.3 years, female n=31). Additional genetic screening of 3 LQTS genes (KCNQ1, KCNH2, SCN5A) was performed in 9 families...
March 20, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#3
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
February 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28325512/-sudden-death-of-a-young-man-as-late-sequelae-complicating-a-pediatric-disease-about-a-case
#4
Clémence Pierry, Camille Franchet, Lucile Tuchtan-Torrents, Céline Macon, Julia Torrents, Caroline Capuani, Marie-Dominique Piercecchi-Marti
In France, sudden death is responsible every year for 40,000 deaths. The most frequent etiology is cardiac disease. Atheromatous-related pathology is the most common etiology beyond 35, but cardiomyopathies and channelopathies are responsible for a significant number of deaths in young adults. Some acquired disorders can also cause sudden cardiac death. We report the case of a 17-year-old man who died suddenly after sport. Autopsy and pathological study found multiple giant coronary aneurysms. Thrombosis and fibrous scar of myocardial ischemic events were observed...
March 18, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28316956/sudden-infant-death-syndrome-due-to-long-qt-syndrome-a-brief-review-of-the-genetic-substrate-and-prevalence
#5
REVIEW
Nikolaos S Ioakeimidis, Theodora Papamitsou, Soultana Meditskou, Zafiroula Iakovidou-Kritsi
The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible...
December 2017: Journal of Biological Research
https://www.readbyqxmd.com/read/28298626/gain-of-function-mutation-p-arg225cys-in-scn11a-causes-familial-episodic-pain-and-contributes-to-essential-tremor
#6
Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, Yu-Ping Wang
Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor. All essential tremor diagnoses were confirmed based on a review of the questionnaires, videotaped neurological examinations and was then reconfirmed by a senior neurologist specializing in movement disorders using published criteria...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28293191/an-exploration-of-charge-compensating-ion-channels-across-the-phagocytic-vacuole-of-neutrophils
#7
Juliet R Foote, Philippe Behe, Mathew Frampton, Adam P Levine, Anthony W Segal
Neutrophils phagocytosing bacteria and fungi exhibit a burst of non-mitochondrial respiration that is required to kill and digest the engulfed microbes. This respiration is accomplished by the movement of electrons across the wall of the phagocytic vacuole by the neutrophil NADPH oxidase, NOX2. In this study, we have attempted to identify the non-proton ion channels or transporters involved in charge compensation by examining the effect of inhibitors on vacuolar pH and cross-sectional area, and on oxygen consumption...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28290897/-the-brugada-syndrome-as-a-cause-of-sudden-death-diagnostics-and-clinical-manifestations-in-children
#8
I M Miklashevich, M A Shkolnikova
The Brugada syndrome is a hereditary potentially arrhythmogenic disease related to the category of channelopathies. It is manifested as syncopal states and sudden death in young people in the absence of structural cardiac disease. The basis of the disease is genetically determined abnormality of function of ionic channels of cardiomyocytes (sodium, potassium, calcium) phenotypically manifesting as sustained or transitory segment-ST elevation and high risk of polymorphic ventricular tachycardia, fibrillation, and sudden death...
October 2016: Kardiologiia
https://www.readbyqxmd.com/read/28290797/-the-brugada-syndrome-in-a-teenager
#9
I M Miklashevich, E V Kuleshova, S A Termosesov, M A Shkolnikova
The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD. BS is extremely rare among children and adolescents. We present here a clinical case of teenager (age 17 years) with BS manifested by syncopal state at the background of fever...
February 2017: Kardiologiia
https://www.readbyqxmd.com/read/28286482/restoration-of-epithelial-sodium-channel-function-by-synthetic-peptides-in-pseudohypoaldosteronism-type-1b-mutants
#10
Anita Willam, Mohammed Aufy, Susan Tzotzos, Heinrich Evanzin, Sabine Chytracek, Sabrina Geppert, Bernhard Fischer, Hendrik Fischer, Helmut Pietschmann, Istvan Czikora, Rudolf Lucas, Rosa Lemmens-Gruber, Waheed Shabbir
The synthetically produced cyclic peptides solnatide (a.k.a. TIP or AP301) and its congener AP318, whose molecular structures mimic the lectin-like domain of human tumor necrosis factor (TNF), have been shown to activate the epithelial sodium channel (ENaC) in various cell- and animal-based studies. Loss-of-ENaC-function leads to a rare, life-threatening, salt-wasting syndrome, pseudohypoaldosteronism type 1B (PHA1B), which presents with failure to thrive, dehydration, low blood pressure, anorexia and vomiting; hyperkalemia, hyponatremia and metabolic acidosis suggest hypoaldosteronism, but plasma aldosterone and renin activity are high...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28266935/genetic-causes-of-sudden-cardiac-death-in-the-young
#11
Andrea Mazzanti, Riccardo Maragna, Silvia G Priori
PURPOSE OF REVIEW: In this article, we discuss the most recent and relevant studies published in the field of inherited arrhythmogenic disorders, focusing in particular on channelopathies (Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia) and arrhythmogenic right ventricular cardiomyopathy (ARVC). RECENT FINDINGS: We discuss the updated diagnostic criteria for channelopathies released by the European Society of Cardiology, the new results on the value of programmed electrical stimulation in patients with Brugada syndrome, and the recent evidences supporting a genotype-specific therapy for Long QT syndrome type 3...
March 6, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28247534/heterogeneity-in-phenotype-of-hyperinsulinism-caused-by-activating-glucokinase-mutations-a-novel-mutation-and-its-functional-characterization
#12
Rosa Martínez, Ángel Gutierrez-Nogués, Concepción Fernández-Ramos, Teresa Velayos, Amaia Vela, María-Ángeles Navas, Luis Castaño
BACKGROUND: Mutations in the GCK gene lead to different forms of GCK-disease, activating mutations cause hyperinsulinemic hypoglycemia while inactivating mutations cause monogenic diabetes. Hyperinsulinism (HI) is a heterogeneous condition with a significant genetic component. The major causes are channelopathies, the other forms are rare and being caused by mutations in genes such as GCK. OBJECTIVE: To describe the clinical and genetic presentation of four families with activating GCK mutations, and to explore the pathogenicity of the novel mutation identified through functional studies...
March 1, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28246116/understanding-the-conformational-motions-of-rck-gating-rings
#13
REVIEW
Teresa Giraldez, Brad S Rothberg
Regulator of conduction of K(+) (RCK) domains are ubiquitous regulators of channel and transporter activity in prokaryotes and eukaryotes. In humans, RCK domains form an integral component of large-conductance calcium-activated K channels (BK channels), key modulators of nerve, muscle, and endocrine cell function. In this review, we explore how the study of RCK domains in bacterial and human channels has contributed to our understanding of the structural basis of channel function. This knowledge will be critical in identifying mechanisms that underlie BK channelopathies that lead to epilepsy and other diseases, as well as regions of the channel that might be successfully targeted to treat such diseases...
February 28, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/28238200/left-cardiac-sympathetic-denervation-case-series-and-technical-report
#14
C McNamara, P Cullen, M Rackauskas, R Kelly, K E O'Sullivan, J Galvin, D Eaton
BACKGROUND: Left cardiac sympathetic denervation (LCSD) is a surgical procedure that has been shown to have an antiarrhythmic and antifibrillatory effect. Evidence indicating its antiarrhythmic effect has been available for over 100 years. It involves the removal of the lower half of the stellate ganglion and T2-T4 of the sympathetic ganglia and is carried out as either a unilateral or bilateral procedure. With advancements in thoracic surgery, it can be safely performed via a minimally invasive Video-Assisted Thoracoscopic Surgery (VATS) approach resulting in significantly less morbidity and a shortened inpatient stay...
February 25, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28229199/-coronary-artery-disease-interventional-and-operative-therapeutic-options-after-cardiac-arrest
#15
M Behnes, K Mashayekhi, M Borggrefe, I Akin
Coronary artery disease (CAD) represents a common structural cause for developing cardiac arrest in older patients, whereas in young adults cardiac arrest is more often caused by cardiomyopathies and cardiac channelopathies. A structural heart disease is known in almost 50% of patients prior to cardiac arrest. The present review outlines current interventional and operative therapeutic options for patients surviving cardiac arrest. The focus is on associations between epidemiological data on the incidence of malignant arrhythmias causing cardiac arrest depending on the presence or absence of CAD...
February 22, 2017: Herz
https://www.readbyqxmd.com/read/28223225/the-control-of-cardiac-ventricular-excitability-by-autonomic-pathways
#16
REVIEW
Malcolm Finlay, Stephen C Harmer, Andrew Tinker
Central to the genesis of ventricular cardiac arrhythmia are variations in determinants of excitability. These involve individual ionic channels and transporters in cardiac myocytes but also tissue factors such as variable conduction of the excitation wave, fibrosis and source-sink mismatch. It is also known that in certain diseases and particularly the channelopathies critical events occur with specific stressors. For example, in hereditary long QT syndrome due to mutations in KCNQ1 arrhythmic episodes are provoked by exercise and in particular swimming...
February 13, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28202948/identification-of-pathogenic-variants-in-genes-related-to-channelopathy-and-cardiomyopathy-in-korean-sudden-cardiac-arrest-survivors
#17
Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-Jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki, Young Keun On
Pathogenic variants in genes related to channelopathy and cardiomyopathy are the most common cause of sudden unexplained cardiac death. However, few reports have investigated the frequency and/or spectrum of pathogenic variants in these genes in Korean sudden cardiac arrest survivors. This study aimed to investigate the causative genetic variants of cardiac-associated genes in Korean sudden cardiac arrest survivors. We performed exome sequencing followed by filtering and validation of variants in 100 genes related to channelopathy and cardiomyopathy in 19 Korean patients who survived sudden cardiac arrest...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28193892/kv1-1-channelopathy-abolishes-presynaptic-spike-width-modulation-by-subthreshold-somatic-depolarization
#18
Umesh Vivekananda, Pavel Novak, Oscar D Bello, Yuri E Korchev, Shyam S Krishnakumar, Kirill E Volynski, Dimitri M Kullmann
Although action potentials propagate along axons in an all-or-none manner, subthreshold membrane potential fluctuations at the soma affect neurotransmitter release from synaptic boutons. An important mechanism underlying analog-digital modulation is depolarization-mediated inactivation of presynaptic Kv1-family potassium channels, leading to action potential broadening and increased calcium influx. Previous studies have relied heavily on recordings from blebs formed after axon transection, which may exaggerate the passive propagation of somatic depolarization...
February 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28185290/computational-analysis-of-the-human-sinus-node-action-potential-model-development-and-effects-of-mutations
#19
Alan Fabbri, Matteo Fantini, Ronald Wilders, Stefano Severi
The sinoatrial node (SAN) is the normal pacemaker of the mammalian heart.  Over several decades, a large amount of data on the ionic mechanisms underlying the spontaneous electrical activity of SAN pacemaker cells has been obtained, mostly in experiments on single cells isolated from rabbit SAN. This wealth of data has allowed the development of mathematical models of the electrical activity of rabbit SAN pacemaker cells. Our aim was to construct a more comprehensive model of the electrical activity of a human SAN pacemaker cell, using recently obtained electrophysiological data from human SAN pacemaker cells...
February 9, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28183995/structure-of-a-eukaryotic-voltage-gated-sodium-channel-at-near-atomic-resolution
#20
Huaizong Shen, Qiang Zhou, Xiaojing Pan, Zhangqiang Li, Jianping Wu, Nieng Yan
Voltage-gated sodium (Nav) channels are responsible for the initiation and propagation of action potentials. They are associated with a variety of channelopathies and are targeted by multiple pharmaceutical drugs and natural toxins. Here, we report the cryo-EM structure of a putative Nav channel from American cockroach (designated NavPaS) at 3.8-Å resolution. The voltage sensing domains (VSDs) of the four repeats exhibit distinct conformations. The entrance to the asymmetric selectivity filter vestibule is guarded by heavily glycosylated and disulfide bond-stabilized extracellular loops...
February 9, 2017: Science
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