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https://www.readbyqxmd.com/read/28728690/contemporary-outcomes-in-patients-with%C3%A2-long-qt-syndrome
#1
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
#2
(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
https://www.readbyqxmd.com/read/28726852/autoimmune-channelopathies-questions-remain
#3
Jin Li, Ange Maguy
No abstract text is available yet for this article.
July 20, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28726851/autoimmune-cardiac-channelopathies-the-heart-of-the-matter
#4
Pietro Enea Lazzerini, Pier Leopoldo Capecchi, Franco Laghi-Pasini, Mohamed Boutjdir
No abstract text is available yet for this article.
July 20, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28721212/recent-advances-in-the-management-of-ventricular-tachyarrhythmias
#5
REVIEW
Syeda Atiqa Batul, Brian Olshansky, John D Fisher, Rakesh Gopinathannair
Ventricular arrhythmias are an important cause of cardiovascular morbidity and mortality, particularly in those with structural heart disease, inherited cardiomyopathies, and channelopathies. The goals of ventricular arrhythmia management include symptom relief, improving quality of life, reducing implantable cardioverter defibrillator shocks, preventing deterioration of left ventricular function, reducing risk of arrhythmic death, and potentially improving overall survival. Guideline-directed medical therapy and implantable cardioverter defibrillator implantation remain the mainstay of therapy to prevent sudden cardiac death in patients with ventricular arrhythmias in the setting of structural heart disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28712329/organotypic-cultures-of-cerebellar-slices-as-a-model-to-investigate-demyelinating-disorders
#6
Frédéric Doussau, Jean-Luc Dupont, Dorine Neel, Aline Schneider, Bernard Poulain, Jean Louis Bossu
Demyelinating disorders, characterized by a chronic or episodic destruction of the myelin sheath, are a leading cause of neurological disability in young adults in western countries. Studying the complex mechanisms involved in axon myelination, demyelination and remyelination requires an experimental model preserving the neuronal networks and neuro-glial interactions. Organotypic cerebellar slice cultures appear to be the best alternative to in vivo experiments and the most commonly used model for investigating etiology or novel therapeutic strategies in multiple sclerosis...
July 17, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28690545/spatial-patterns-of-excitation-at-tissue-and-whole-organ-level-due-to-early-afterdepolarizations
#7
REVIEW
Nele Vandersickel, Enid Van Nieuwenhuyse, Gunnar Seemann, Alexander V Panfilov
Early after depolarizations (EAD) occur in many pathological conditions, such as congenital or acquired channelopathies, drug induced arrhythmias, and several other situations that are associated with increased arrhythmogenicity. In this paper we present an overview of the relevant computational studies on spatial EAD dynamics in 1D, 2D, and in 3D anatomical models and discuss the relation of EADs to cardiac arrhythmias. We also discuss unsolved problems and highlight new lines of research in this area.
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28689025/venom-derived-peptide-inhibitors-of-voltage-gated-potassium-channels
#8
REVIEW
Raymond S Norton, K George Chandy
Voltage-gated potassium channels play a key role in human physiology and pathology. Reflecting their importance, numerous channelopathies have been characterised that arise from mutations in these channels or from autoimmune attack on the channels. Voltage-gated potassium channels are also the target of a broad range of peptide toxins from venomous organisms, including sea anemones, scorpions, spiders, snakes and cone snails; many of these peptides bind to the channels with high potency and selectivity. In this review we describe the various classes of peptide toxins that block these channels and illustrate the broad range of three-dimensional structures that support channel blockade...
July 5, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28685702/a-focus-on-pharmacological-management-of-catecholaminergic-polymorphic-ventricular-tachycardia
#9
Claudio Barbanti, Alice Maltret, Daniel Sidi
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a channelopathy characterized by adrenergic mediated ventricular arrhythmia. Untreated CPVT is a malignant syndrome with more than 50% of arrhythmic event and up to 25% of fatal or near-fatal cardiac event at 8 years follow-up. Prevention of sudden cardiac death starts with exclusion of competitive sports. Beta blockers (BB) are the cornerstone pharmacological therapy for prevention of cardiac event in CPVT patients. Dose of BB should be the highest tolerable, preferably nadolol...
July 7, 2017: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/28685698/medical-therapy-for-long-qt-syndrome
#10
George Adamos, Nicoletta Iacovidou, Theodoros Xanthos
Long QT syndrome (LQTS) is an arrhythmogenic disorder characterized by repolarization abnormalities with a propensity to cause life threatening cardiac events. The first manifestation of the syndrome may be sudden death, therefore, early diagnosis and therapy is of great importance. LQTS can be both congenital and acquired. The latter is most commonly seen in hospitalized patients and such individuals have an easily recognizable and reversible precipitating factor (electrolyte disturbances, certain drugs etc...
July 7, 2017: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/28676720/a-channelopathy-mutation-in-the-voltage-sensor-discloses-contributions-of-a-conserved-phenylalanine-to-gating-properties-of-kv1-1-channels-and-ataxia
#11
Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D'Adamo
Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the voltage-sensing domain and results in the substitution of the highly conserved phenylalanine 303 by valine (p.F303V). The contributions of F303 towards K(+) channel voltage gating are unclear and here have been assessed biophysically and by performing structural analysis using rat Kv1...
July 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28670758/congenital-long-qt-syndrome-and-torsade-de-pointes
#12
REVIEW
Nabil El-Sherif, Gioia Turitto, Mohamed Boutjdir
Since its initial description by Jervell and Lange-Nielsen in 1957, the congenital long QT syndrome (LQTS) has been the most investigated cardiac ion channelopathy. A prolonged QT interval in the surface electrocardiogram is the sine qua non of the LQTS and is a surrogate measure of the ventricular action potential duration (APD). Congenital as well as acquired alterations in certain cardiac ion channels can affect their currents in such a way as to increase the APD and hence the QT interval. The inhomogeneous lengthening of the APD across the ventricular wall results in dispersion of APD...
July 2, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/28669899/insights-into-channel-dysfunction-from-modelling-and-molecular-dynamics-simulations
#13
REVIEW
Maria Musgaard, Teresa Paramo, Laura Domicevica, Ole Juul Andersen, Philip C Biggin
Developments in structural biology mean that the number of different ion channel structures has increased significantly in recent years. Structures of ion channels enable us to rationalize how mutations may lead to channelopathies. However, determining the structures of ion channels is still not trivial, especially as they necessarily exist in many distinct functional states. Therefore, the use of computational modelling can provide complementary information that can refine working hypotheses of both wild type and mutant ion channels...
June 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28669898/relevance-of-tissue-specific-subunit-expression-in-channelopathies
#14
REVIEW
Hartwig Seitter, Alexandra Koschak
Channelopathies are a diverse group of human disorders that are caused by mutations in genes coding for ion channels or channel-regulating proteins. Several dozen channelopathies have been identified that involve both non-excitable cells as well as electrically active tissues like brain, skeletal and smooth muscle or the heart. In this review, we start out from the general question which ion channel genes are expressed tissue-selectively. We mined the human gene expression database Human Protein Atlas (HPA) for tissue-enriched ion channel genes and found 85 genes belonging to the ion channel families...
June 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28668989/sudden-unexplained-death-in-alcohol-misuse-sudam-patients-have-different-characteristics-to-those-who-died-from-sudden-arrhythmic-death-syndrome-sads
#15
Tracy Sorkin, Mary N Sheppard
There is growing awareness of sudden unexplained death in alcohol misuse (SUDAM) in which there is no obvious cause of death, no evidence of acute alcohol toxicity or alcoholic ketoacidosis, and the heart is morphologically normal. This study describes the characteristics of a cohort with SUDAM from a tertiary cardiovascular referral center and compares the findings with those of individuals who died from sudden arrhythmic death syndrome (SADS). Cases in this retrospective cross-sectional study were identified from a database of referrals to our center spanning approximately 40 years...
July 1, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28663329/long-qt-syndrome-and-sudden-unexpected-infant-death
#16
EDITORIAL
Chantal Van Niekerk, Barbara Ströh Van Deventer, Lorraine du Toit-Prinsloo
Long QT syndrome (LQTS) is an inheritable primary electric disease of the heart characterised by abnormally long QT intervals and a propensity to develop atrial and ventricular tachyarrhythmias. It is caused by an inherited channelopathy responsible for sudden cardiac death in individuals with structurally normal hearts. Long QT syndrome can present early in life, and some studies suggest that it may be associated with up to 20% of sudden unexplained infant death (SUID), particularly when associated with external stressors such as asphyxia, which is commonly seen in many infant death scenes...
June 29, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28662944/skeletal-muscle-channelopathies-rare-disorders-with-common-pediatric-symptoms
#17
Emma Matthews, Arpana Silwal, Richa Sud, Michael G Hanna, Adnan Y Manzur, Francesco Muntoni, Pinki Munot
OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy...
June 26, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28656511/hyperinsulinemic-hypoglycemia-clinical-molecular-and-therapeutical-novelties
#18
Arianna Maiorana, Carlo Dionisi-Vici
Hyperinsulinemic hypoglycemia (HI) is the most common cause of hypoglycemia in children. Impairment of cellular pathways involved in insulin secretion from pancreatic β-cells, broadly classified as channelopathies and metabolopathies, have been discovered in the past two decades. The increasing use of NGS target panels, combined with clinical, biochemical and imaging findings allows differentiating the diagnostic management of children with focal forms, surgically curable, from those with diffuse forms, more conservatively treated with pharmacological and nutritional interventions...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28639772/-multidisciplinary-cardiogenetic-counselling
#19
Florence Fellmann, Xavier Jeanrenaud, Nicole Sekarski, Katarzyna Michaud, Deborah Hersch, Heidi Fodstad, Zahurul A Bhuiyan, Jürg Schläpfer
Multidisciplinary cardiogenetic consulting offers a global clinical approach to patients suffering from channelopathies or hereditary cardiomyopathies. Mutation is discovered in around 50 % of the cases. Several experts are working together to bring probands and their families useful and necessary informations to help them understanding causes, consequences and support of their disease. This approach is developped in close collaboration with the treating physician.
May 24, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28637969/development-of-a-patient-derived-induced-pluripotent-stem-cell-model-for-the-investigation-of-scn5a-d1275n-related-cardiac-sodium-channelopathy
#20
Mamoru Hayano, Takeru Makiyama, Tsukasa Kamakura, Hiroshi Watanabe, Kenichi Sasaki, Shunsuke Funakoshi, Yimin Wuriyanghai, Suguru Nishiuchi, Takeshi Harita, Yuta Yamamoto, Hirohiko Kohjitani, Sayako Hirose, Fumika Yokoi, Jiarong Chen, Osamu Baba, Takahiro Horie, Kazuhisa Chonabayashi, Seiko Ohno, Futoshi Toyoda, Yoshinori Yoshida, Koh Ono, Minoru Horie, Takeshi Kimura
BACKGROUND: TheSCN5Agene encodes the α subunit of the cardiac voltage-gated sodium channel, NaV1.5. The missense mutation, D1275N, has been associated with a range of unusual phenotypes associated with reduced NaV1.5 function, including cardiac conduction disease and dilated cardiomyopathy. Curiously, the reported biophysical properties ofSCN5A-D1275N channels vary with experimental system.Methods and Results:First, using a human embryonic kidney (HEK) 293 cell-based heterologous expression system, theSCN5A-D1275N channels showed similar maximum sodium conductance but a significantly depolarizing shift of activation gate (+10 mV) compared to wild type...
June 20, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
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