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https://www.readbyqxmd.com/read/29454019/channelopathies-go-above-and-beyond-the-channels
#1
EDITORIAL
Stephanie Schorge
No abstract text is available yet for this article.
February 14, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29431731/physiological-genomics-identifies-genetic-modifiers-of-long-qt-syndrome-type-2-severity
#2
Sam Chai, Xiaoping Wan, Angelina Ramirez-Navarro, Paul J Tesar, Elizabeth S Kaufman, Eckhard Ficker, Alfred L George, Isabelle Deschênes
Congenital long QT syndrome (LQTS) is an inherited channelopathy associated with life-threatening arrhythmias. LQTS type 2 (LQT2) is caused by mutations in KCNH2, which encodes the potassium channel hERG. We hypothesized that modifier genes are partly responsible for the variable phenotype severity observed in some LQT2 families. Here, we identified contributors to variable expressivity in an LQT2 family by using induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) and whole exome sequencing in a synergistic manner...
February 12, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29430560/epilepsy-is-associated-with-ventricular-alterations-following-convulsive-status-epilepticus-in-children
#3
Wail Ali, Beth A Bubolz, Linh Nguyen, Danny Castro, Jorge Coss-Bu, Michael M Quach, Curtis E Kennedy, Anne E Anderson, Yi-Chen Lai
Objective: Convulsive status epilepticus can exert profound cardiovascular effects in adults including ventricular depolarization-repolarization abnormalities. Whether status epilepticus adversely affects ventricular electrical properties in children is less understood. Therefore, we sought to characterize ventricular alterations and the associated clinical factors in children following convulsive status epilepticus. Methods: We conducted a 2-year retrospective, case-control study...
December 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29427308/shank3-mutations-and-hcn-channelopathy-one-size-does-not-fit-all
#4
Patricia Monteiro
Autism, from the Greek autos ("self") and ismos ("action") was initially described as a congenital lack of interest in other people. This article is protected by copyright. All rights reserved.
February 10, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29427087/neuroinflammation-alters-integrative-properties-of-rat-hippocampal-pyramidal-cells
#5
Federica Frigerio, Corey Flynn, Ye Han, Kyle Lyman, Joaquin N Lugo, Teresa Ravizza, Antoine Ghestem, Julika Pitsch, Albert Becker, Anne E Anderson, Annamaria Vezzani, Dane Chetkovich, Christophe Bernard
Neuroinflammation is consistently found in many neurological disorders, but whether or not the inflammatory response independently affects neuronal network properties is poorly understood. Here, we report that intracerebroventricular injection of the prototypical inflammatory molecule lipopolysaccharide (LPS) in rats triggered a strong and long-lasting inflammatory response in hippocampal microglia associated with a concomitant upregulation of Toll-like receptor (TLR4) in pyramidal and hilar neurons. This, in turn, was associated with a significant reduction of the dendritic hyperpolarization-activated cyclic AMP-gated channel type 1 (HCN1) protein level while Kv4...
February 9, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29426806/neonatal-epilepsies-clinical-management
#6
REVIEW
Marie-Coralie Cornet, Tristan T Sands, Maria Roberta Cilio
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). Historically, studies on treatment response and long-term consequences of neonatal seizures have lumped all etiologies together...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29414256/updated-recommendations-for-athletes-with-heart-disease
#7
Rachel Lampert, Douglas P Zipes
Professional society recommendations to decrease sudden cardiac death in athletes, including eligibility requirements with disqualification for athletes with diagnosed disease as well as preparticipation screening and emergency preparedness, were updated in 2015. The update includes new sections on aortic disease, channelopathies, and sickle cell trait, as well as a change in format from the previous binary yes/no format to the more nuanced and contemporary "class and level of evidence" format. Eighty-four of the 246 recommendations now carry Class II designation-"reasonable," or "may be considered...
January 29, 2018: Annual Review of Medicine
https://www.readbyqxmd.com/read/29412049/ion-channels-in-cancer-are-cancer-hallmarks-oncochannelopathies
#8
Natalia Prevarskaya, Roman Skryma, Yaroslav Shuba
Genomic instability is a primary cause and fundamental feature of human cancer. However, all cancer cell genotypes generally translate into several common pathophysiological features, often referred to as cancer hallmarks. Although nowadays the catalog of cancer hallmarks is quite broad, the most common and obvious of them are 1) uncontrolled proliferation, 2) resistance to programmed cell death (apoptosis), 3) tissue invasion and metastasis, and 4) sustained angiogenesis. Among the genes affected by cancer, those encoding ion channels are present...
April 1, 2018: Physiological Reviews
https://www.readbyqxmd.com/read/29411286/athletes-with-channelopathy-may-be-eligible-to-play
#9
REVIEW
N M Panhuyzen-Goedkoop, A A M Wilde
The European and Bethesda recommendations roughly state that any athlete with channelopathy is not eligible to participate in sports on a presumed risk of potentially life-threatening ventricular tachycardia or fibrillation. However, eligibility decision-making on a presumed risk of ventricular tachycardia or fibrillation is debatable. Channelopathies are primary electrical cardiac disorders and are usually transmitted as an autosomal dominant trait. Some of the channelopathies are potentially fatal in relation to exercise and predispose to life-threatening cardiac arrhythmias including ventricular tachycardia or fibrillation...
February 6, 2018: Netherlands Heart Journal
https://www.readbyqxmd.com/read/29410612/nav1-9-potentiates-oxidized-phospholipid-induced-trp-responses-only-under-inflammatory-conditions
#10
Corinna Martin, Carolin Stoffer, Milad Mohammadi, Julian Hugo, Enrico Leipold, Beatrice Oehler, Heike L Rittner, Robert Blum
Oxidized phospholipids (OxPL) like oxidized 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine (OxPAPC) were recently identified as novel proalgesic targets in acute and chronic inflammatory pain. These endogenous chemical irritants are generated in inflamed tissue and mediate their pain-inducing function by activating the transient receptor potential channels TRPA1 and TRPV1 expressed in sensory neurons. Notably, prototypical therapeutics interfering with OxPL were shown to inhibit TRP channel activation and pain behavior...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29405316/acquired-long-qt-syndrome-and-torsade-de-pointes
#11
REVIEW
Nabil El-Sherif, Gioia Turitto, Mohamed Boutjdir
Since its initial description by Jervell and Lange-Nielsen in 19571 , the congenital long QT syndrome (LQTS) has been the most investigated cardiac ion channelopathy. Although congenital LQTS continues to remain the domain of cardiologists, cardiac electrophysiologists, and specialized centers, the by far more frequent acquired drug-induced LQTS is the domain of all physicians and other members of the health care team who are required to make therapeutic decisions. This report will review the electrophysiological mechanisms of LQTS and TdP, electrocardiographic (ECG) characteristics of acquired LQTS, its clinical presentation, management, and future directions in the field...
February 6, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29396286/genetic-variants-in-post-myocardial-infarction-patients-presenting-with-electrical-storm-of-unstable-ventricular-tachycardia
#12
Advithi Rangaraju, Shuba Krishnan, G Aparna, Satish Sankaran, Ashraf U Mannan, B Hygriv Rao
Electrical storm (ES) is a life threatening clinical situation. Though a few clinical pointers exist, the occurrence of ES in a patient with remote myocardial infarction (MI) is generally unpredictable. Genetic markers for this entity have not been studied. In the present study, we carried out genetic screening in patients with remote myocardial infarction presenting with ES by next generation sequencing and identified 25 rare variants in 19 genes predominantly in RYR2, SCN5A, KCNJ11, KCNE1 and KCNH2, CACNA1B, CACNA1C, CACNA1D and desmosomal genes - DSP and DSG2 that could potentially be implicated in electrical storm...
January 30, 2018: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/29396171/atp1a3-spectrum-disorders-a-video-documented-history-of-7-genetically-confirmed-early-onset-cases
#13
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29391559/substitutions-of-the-s4div-r2-residue-r1451-in-nav1-4-lead-to-complex-forms-of-paramyotonia-congenita-and-periodic-paralyses
#14
Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine
Mutations in NaV1.4, the skeletal muscle voltage-gated Na+ channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical phenotypes. The R1451L is a novel pathogenic substitution found in two unrelated individuals. The first individual was diagnosed with non-dystrophic myotonia, whereas the second suffered from an unusual phenotype combining hyperkalemic and hypokalemic episodes of periodic paralysis (PP)...
February 1, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29387326/performance-of-electrophysiologic-study-in-an-asymptomatic-patient-with-type-2-intermittent-brugada-syndrome-to-do-or-not-to-do
#15
Kaveh Hosseini, Mansour Jahangiri, Ali Vasheghani Farahani
Background: Brugada syndrome (BrS) is an inherited channelopathy, which is associated with sudden cardiac death due to rapid polymorphic VT or VF. There is no definite consensus regarding the management of asymptomatic patients. Some experts advocate close follow-up; others propose the programmed stimulation for risk stratification. We aimed to evaluate the benefit of complete atrial and ventricular stimulation in patients with BrS and palpitation. Case Presentation: A 30-year-old man was admitted to our hospital because of a family history of sudden cardiac death (SCD) at age less than 45 years...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29384561/ocular-dipping-in-a-patient-with-hemiplegic-migraine
#16
Iga N Gray, Ana G Cristancho, Daniel J Licht, Grant T Liu
A 5-year-old girl presented with acute, rapidly progressive encephalopathy following minor head trauma and was found to have ocular dipping. Her encephalopathy was secondary to a channelopathy caused by a CACNA1A mutation. This is the first reported case of ocular dipping in an encephalopathic child with CACNA1A-confirmed hemiplegic migraine. [J Pediatr Ophthalmol Strabismus. 2018;55:e4-e6.].
January 31, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29373813/functional-regulation-of-large-conductance-ca2-activated-k-channels-in-vascular-diseases
#17
REVIEW
Yanrong Zhu, Peng Ye, Shao-Liang Chen, Dai-Min Zhang
The large conductance Ca2+-activated potassium channels, the BK channels, is widely expressed in various tissues and activated in a Ca2+- and voltage-dependent manner. The activation of BK channels hyperpolarizes vascular smooth muscle cell membrane potential, resulting in vasodilation. Under pathophysiological conditions, such as diabetes mellitus and hypertension, impaired BK channel function exacerbates vascular vasodilation and leads to organ ischemia. The vascular BK channel is composed of 4 pore-forming subunits, BK-α together with 4 auxiliary subunits: β1 subunits (BK-β1) or γ1 subunits (BK-γ1)...
January 23, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29360952/loss-of-kcnk3-is-a-hallmark-of-rv-hypertrophy-dysfunction-associated-with-pulmonary-hypertension
#18
Mélanie Lambert, Angèle Boet, Catherine Rucker-Martin, Pedro Mendes-Ferreira, Véronique Capuano, Stéphane Hatem, Rui Adão, Carmen Brás-Silva, Aurélie Hautefort, Jean-Baptiste Michel, Peter Dorfmuller, Elie Fadel, Tom Kotsimbos, Laura Price, Philippe Jourdon, David Montani, Marc Humbert, Frédéric Perros, Fabrice Antigny
Aims: Mutations in the KCNK3 gene, which encodes for an outward-rectifier K+ channel, have been identified in patients suffering from pulmonary arterial hypertension (PAH), and constitute the first described channelopathy in PAH. In human PAH and experimental pulmonary hypertension (PH), we demonstrated that KCNK3 expression and function are severely reduced in pulmonary vascular cells, promoting PH-like phenotype at the morphologic and hemodynamic levels. Since KCNK3 channel is also expressed in both the human and rodent heart, we aimed to elucidate the pathophysiological role of KCNK3 channel in right ventricular (RV) hypertrophy (RVH) related to PH...
January 19, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29350269/exome-analysis-in-34-sudden-unexplained-death-sud-victims-mainly-identified-variants-in-channelopathy-associated-genes
#19
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic cardiac diseases, which remained without any symptoms during lifetime. Approximately 30% of these sudden death cases have no definite cardiac etiology after a comprehensive medicolegal investigation and are therefore termed as sudden unexplained death (SUD) cases. Advances in high-throughput sequencing approaches have provided an efficient diagnostic tool to identify likely pathogenic variants in cardiovascular disease-associated genes in otherwise autopsy-negative SUD cases...
January 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29344776/dawning-of-a-new-era-in-trp-channel-structural-biology-by-cryo-electron-microscopy
#20
REVIEW
M Gregor Madej, Christine M Ziegler
Cryo-electron microscopy (cryo-EM) permits the determination of atomic protein structures by averaging large numbers of individual projection images recorded at cryogenic temperatures-a method termed single-particle analysis. The cryo-preservation traps proteins within a thin glass-like ice layer, making literally a freeze image of proteins in solution. Projections of randomly adopted orientations are merged to reconstruct a 3D density map. While atomic resolution for highly symmetric viruses was achieved already in 2009, the development of new sensitive and fast electron detectors has enabled cryo-EM for smaller and asymmetrical proteins including fragile membrane proteins...
January 17, 2018: Pflügers Archiv: European Journal of Physiology
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