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https://www.readbyqxmd.com/read/29221324/the-role-of-sympathectomy-in-long-qt-syndrome
#1
REVIEW
Achilleas Antonopoulos, David Lawrence, Davide Patrini, Marco Scarci, Robert George, Martin Hayward, Sofoklis Mitsos, Nikolaos Panagiotopoulos
Long QT syndrome (LQTS) is an uncommon and potentially fatal cardiac channelopathy. Treatment options can be medical with β-blockers or surgical with implantable cardioverter defibrillator (ICD) implantations and left cardiac sympathetic denervation (LCSD). Purpose of this paper is through a literature review to identify the management algorithm and the role of sympathectomy in LQTS.
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29208948/a-novel-mutation-in-slc1a3-causes-episodic-ataxia
#2
Kazuhiro Iwama, Aya Iwata, Masaaki Shiina, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Takeshi Mizuguchi, Naomichi Matsumoto
Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino-acid transporter 1, which is a trimeric transmembrane protein responsible for glutamate transport in the synaptic cleft. In this study, we found a novel missense mutation, c...
December 5, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29186675/inactivation-of-mechanically-activated-piezo1-ion-channels-is-determined-by-the-c-terminal-extracellular-domain-and-the-inner-pore-helix
#3
Jason Wu, Michael Young, Amanda H Lewis, Ashley N Martfeld, Breanna Kalmeta, Jörg Grandl
Piezo proteins form mechanically activated ion channels that are responsible for our sense of light touch, proprioception, and vascular blood flow. Upon activation by mechanical stimuli, Piezo channels rapidly inactivate in a voltage-dependent manner through an unknown mechanism. Inactivation of Piezo channels is physiologically important, as it modulates overall mechanical sensitivity, gives rise to frequency filtering of repetitive mechanical stimuli, and is itself the target of numerous human disease-related channelopathies that are not well understood mechanistically...
November 28, 2017: Cell Reports
https://www.readbyqxmd.com/read/29184379/neurotransmitters-and-sodium-channelopathies-possible-link
#4
COMMENT
Michael F Hammer, Alejandra D C Encinas
Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing.
November 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/29179637/cone-dystrophy-and-ectopic-synaptogenesis-in-a-cacna1f-loss-of-function-model-of-congenital-stationary-night-blindness-csnb2a
#5
D M Waldner, N C Giraldo Sierra, S Bonfield, L Nguyen, I S Dimopoulos, Y Sauvé, W K Stell, N T Bech-Hansen
Congenital stationary night blindness 2A (CSNB2A) is an X-linked retinal disorder, characterized by phenotypically variable signs and symptoms of impaired vision. CSNB2A is due to mutations in CACNA1F, which codes for the pore-forming α1F subunit of a L-type voltage-gated calcium channel, Cav1.4. Mouse models of CSNB2A, used for characterizing the effects of various Cacna1f mutations, have revealed greater severity of defects than in human CSNB2A. Specifically, Cacna1f-knockout mice show an apparent lack of visual function, gradual retinal degeneration, and disruption of photoreceptor synaptic terminals...
November 28, 2017: Channels
https://www.readbyqxmd.com/read/29178380/current-matters-of-the-heart
#6
EDITORIAL
B Persson, Anja Bondke Persson
Cardiac function and the development and adaption of the cardiovascular system are among the classics in physiology, and as such are also among the flagship topics in Acta Physiologica. We regularly revisit according topics as, e.g. arterial hypertension, renal function and channelopathies, to provide you with an overview of the latest novel developments in the field. This article is protected by copyright. All rights reserved.
November 25, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/29176389/contemporary-genetic-testing-in-inherited-cardiac-disease-tools-ethical-issues-and-clinical-applications
#7
Francesca Girolami, Giulia Frisso, Matteo Benelli, Lia Crotti, Maria Iascone, Ruggiero Mango, Cristina Mazzaccara, Kalliope Pilichou, Eloisa Arbustini, Benedetta Tomberli, Giuseppe Limongelli, Cristina Basso, Iacopo Olivotto
: Inherited cardiac diseases comprise a wide and heterogeneous spectrum of diseases of the heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal hearts, that is, channelopathies. With a combined estimated prevalence of 3% in the general population, these conditions represent a relevant epidemiological entity worldwide, and are a major cause of cardiac morbidity and mortality in the young. The extraordinary progress achieved in molecular genetics over the last three decades has unveiled the complex molecular basis of many familial cardiac conditions, paving the way for routine use of gene testing in clinical practice...
November 14, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29173405/electrocardiographic-markers-of-sudden-cardiac-death-including-left-ventricular-hypertrophy
#8
REVIEW
Andrés Ricardo Pérez-Riera, Raimundo Barbosa-Barros, Mohammad Shenasa
Although the electrocardiograph (ECG) was invented more than 100 years ago, it remains the most commonly used test in clinical medicine. It is easy to perform, relatively cheap, and results are readily available. Interpretation, however, needs expertise and knowledge. New data, phenomenon, and syndromes are continually discovered by the ECG. It is important to differentiate between normal and abnormal ECGs first and then try to correlate the findings with clinical pathologies. Furthermore, the ECG is an integral part of the screening model for a variety of conditions such as channelopathies, athletes, preoperative risk profile, and remains the cardiologist's best friend...
December 2017: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29173400/channelopathies-as-causes-of-sudden-cardiac-death
#9
REVIEW
Peter J Schwartz, Michael J Ackerman, Arthur A M Wilde
This article reviews the main clinical aspects of 3 channelopathies: the long QT syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the Brugada syndrome. The text summarizes our views on clinical presentation and diagnosis, on risk stratification, and on therapy. Special attention is given to the progress in the understanding of the genetic bases and on the growing impact of genetics on therapy, which, at least in the case of long QT syndrome, now allows gene-specific management.
December 2017: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29167113/irritable-bowel-syndrome-ibs-patients-have-scn5a-channelopathies-that-lead-to-decreased-nav1-5-current-and-mechanosensitivity
#10
Peter R Strege, Amelia Mazzone, Cheryl E Bernard, Leila Neshatian, Simon J Gibbons, Yuri A Saito, David J Tester, Melissa L Calvert, Emeran A Mayer, Lin Chang, Michael J Ackerman, Arthur Beyder, Gianrico Farrugia
The SCN5A-encoded voltage-gated mechanosensitive sodium (Na(+)) channel NaV1.5 is expressed in human GI smooth muscle cells and interstitial cells of Cajal. NaV1.5 contributes to smooth muscle electrical slow waves and mechanical sensitivity. In predominately Caucasian IBS patient cohorts, 2-3% have SCN5A missense mutations which alter NaV1.5 function and may contribute to IBS pathophysiology. In this study examined a racially and ethnically diverse cohort of IBS patients for SCN5A missense mutations, and compared them to IBS negative controls, and determined the resulting NaV1...
November 22, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/29163222/an-update-on-sec61-channel-functions-mechanisms-and-related-diseases
#11
REVIEW
Sven Lang, Stefan Pfeffer, Po-Hsien Lee, Adolfo Cavalié, Volkhard Helms, Friedrich Förster, Richard Zimmermann
The membrane of the endoplasmic reticulum (ER) of nucleated human cells harbors the protein translocon, which facilitates membrane integration or translocation of almost every newly synthesized polypeptide targeted to organelles of the endo- and exocytotic pathway. The translocon comprises the polypeptide-conducting Sec61 channel and several additional proteins and complexes that are permanently or transiently associated with the heterotrimeric Sec61 complex. This ensemble of proteins facilitates ER targeting of precursor polypeptides, modification of precursor polypeptides in transit through the Sec61 complex, and Sec61 channel gating, i...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29161016/selective-voltage-gated-sodium-channel-peptide-toxins-from-animal-venom-pharmacological-probes-and-analgesic-drug-development
#12
Ying Wu, Hui Ma, Fan Zhang, Chun-Lei Zhang, Xiaohan Zou, Zhengyu Cao
Voltage-gated sodium channels (Navs) play critical roles in action potential generation and propagation. Nav channelopathy as well as pathological sensitization contribute to allodynia and hyperalgesia. Recent evidence has demonstrated the significant roles of Nav subtypes (Nav1.3, 1.7, 1.8 and 1.9) in nociceptive transduction and therefore these Navs may represent attractive targets for analgesic drug discovery. Animal toxins are structurally diverse peptides that are highly potent yet selective on ion channel subtypes and therefore representing valuable probes to elucidate the structures, gating properties and cellular functions of ion channels...
November 21, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29142081/genetic-and-molecular-regulation-of-extrasynaptic-gaba-a-receptors-in-the-brain-therapeutic-insights-for-epilepsy
#13
Shu-Hui Chuang, Doodipala Samba Reddy
GABA-A receptors play a pivotal role in many brain diseases. Epilepsy is caused by acquired conditions and genetic defects in GABA receptor channels regulating neuronal excitability in the brain. The latter is referred to as GABA channelopathies. In the last two decades, major advances have been made in the genetics of epilepsy. The presence of specific GABAergic genetic abnormalities leading to some of the classical epileptic syndromes has been identified. Advances in molecular cloning and recombinant systems have helped characterize mutations in GABA-A receptor subunit genes in clinical neurology...
November 15, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29141819/autoimmune-aquaporin-4-induced-damage-beyond-the-central-nervous-system
#14
REVIEW
Dian He, Anni Zhang, Ya Li, Gang Cai, Yuan Li, Shipeng Guo
Initially, it was believed that Aquaporin-4 (AQP4)- immunoglobulin G (IgG) only affected the central nervous system (CNS), and peripheral AQP4-expressing organs were usually spared. However, in recent years, increasing evidence has demonstrated that AQP4-IgG causes damage to peripheral organs beyond the CNS such as skeletal muscle, vestibulocochlear nerves, gastrointestinal tract, blood system, kidney, lung and placenta. Recently, the term "autoimmune aquaporin-4 channelopathy" has been proposed to incorporate a wide range of diseases associated with AQP4-IgG, including neuromyelitis optica spectrum disorders and AQP4-IgG-induced peripheral nerves system damage...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29138928/mechanisms-of-drug-binding-to-voltage-gated-sodium-channels
#15
M E O'Leary, M Chahine
Voltage-gated sodium (Na(+)) channels are expressed in virtually all electrically excitable tissues and are essential for muscle contraction and the conduction of impulses within the peripheral and central nervous systems. Genetic disorders that disrupt the function of these channels produce an array of Na(+) channelopathies resulting in neuronal impairment, chronic pain, neuromuscular pathologies, and cardiac arrhythmias. Because of their importance to the conduction of electrical signals, Na(+) channels are the target of a wide variety of local anesthetic, antiarrhythmic, anticonvulsant, and antidepressant drugs...
November 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29129644/role-of-kinase-coupled-trp-channels-in-mineral-homeostasis
#16
REVIEW
Vladimir Chubanov, Lorenz Mittermeier, Thomas Gudermann
Transient receptor potential (TRP) proteins TRPM6 and TRPM7 are α-kinase-coupled divalent cation-selective channels activated upon a reduction of cytosolic levels of Mg(2+) and Mg·ATP. Emerging evidence indicate that one of the main physiological functions of TRPM6 and TRPM7 is maintaining of cellular metabolism of Mg(2+) and likely other essential metals such as Ca(2+) and Zn(2+). Recent experiments with genetic animal models have shown that TRPM6 and TRPM7 are essential for epithelial Mg(2+) transport in the placenta and intestine...
November 9, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29129156/a-case-of-kcnq2-associated-movement-disorder-triggered-by-fever
#17
Radhika Dhamija, Howard P Goodkin, Russell Bailey, Chelsea Chambers, J Nicholas Brenton
The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29121758/tpeak-tend-dispersion-as-a-predictor-for-malignant-arrhythmia-events-in-patients-with-vasospastic-angina
#18
Wang Xianpei, Wu Sha, Gao Chuanyu, Yan Juanjuan, Chen Chong, Shi Yongen, Feng Yu, Lin Zhenhao
BACKGROUND: Tpeak-Tend interval (Tp-e interval) in electrocardiogram (ECG) has been reported to predict malignant arrhythmia events (MAE) in ST-segment elevation myocardial infarction and ion channelopathy. Tp-e interval and other ECG parameters as predictors for MAE was evaluated in patients with vasospastic angina (VA). METHODS AND RESULTS: Sixty-two patients with VA (Non-MAE group) and 20 patients with VA complicated by MAE (MAE group) were enrolled in our Division of Cardiology between January 2010 and December 2015...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29120016/the-subcutaneous-implantable-cardioverter-defibrillator-in-daily-clinical-practice
#19
Tardu Özkartal, Alexander Breitenstein, Ardan M Saguner, Devdas T Inderbitzin, Markus Wilhelm, Stefano Benussi, Francesco Maisano, Thomas F Lüscher, Frank Ruschitzka, Jan Steffel
INTRODUCTION: In Switzerland, the first implantation of a subcutaneous implantable cardioverter-defibrillator (S-ICD) took place in November 2012. Up until the end of 2016, a total of 111 S-ICDs have been implanted. The aim of this study was to summarise the experience of a tertiary centre in Switzerland and to discuss the results in the context of international registries. METHODS: All patients in whom an S-ICD was implanted between November 2012 and the end of December 2016 at the University Heart Centre Zurich were included in this study...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29099038/massively-parallel-sequencing-of-genes-implicated-in-heritable-cardiac-disorders-a-strategy-for-a-small-diagnostic-laboratory
#20
Ivone U S Leong, Alexander Stuckey, Daniele Belluoccio, Vicky Fan, Jonathan R Skinner, Debra O Prosser, Donald R Love
Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided into two groups: heritable cardiac disorders that affect the heart structure (cardiomyopathies) and primary electrical disorders (cardiac ion channelopathies). Genetic testing is vital as those suffering from cardiac ion channelopathies have structurally normal hearts, and those with cardiomyopathies may only show subtle abnormalities in the heart and these signs may not be detected during an autopsy...
October 10, 2017: Medical Sciences: Open Access Journal
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