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https://www.readbyqxmd.com/read/29429799/accelerated-idioventricular-rhythm-degenerating-into-bidirectional-ventricular-tachycardia-following-acute-myocardial-infarction
#1
Yun-Tao Zhao, Hang Zhou, Yumin Cui
Bidirectional ventricular tachycardia (BVT) is a rare ventricular tachyarrhythmia. It is usually regular, demonstrating a beat-to-beat alternation in the QRS frontal axis that varies between -20° to -30° and +110°. The tachycardia rate is typically between 140 and 180 beats/min and the QRS is relatively narrow, with a duration of 120 to 150 ms. The etiology of published BVT cases is most commonly digitalis toxicity and, rarely, herbal aconitine poisoning, hypokalemic periodic paralysis, catecholaminergic polymorphic ventricular tachycardia (CPVT), myocarditis, and Andersen-Tawil syndrome...
January 8, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29379555/propafenone-is-not-effective-for-severe-ventricular-arrhythmias-in-andersen-tawil-syndrome
#2
Piotr Bienias, Anna Kostera-Pruszczyk, Maria Miszczak-Knecht, Michał Ciurzyński, Piotr Pruszczyk
No abstract text is available yet for this article.
January 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29125635/review-of-the-diagnosis-and-treatment-of-periodic-paralysis
#3
Jeffrey M Statland, Bertrand Fontaine, Michael G Hanna, Nicholas E Johnson, John T Kissel, Valeria A Sansone, Perry B Shieh, Rabi N Tawil, Jaya Trivedi, Stephen C Cannon, Robert C Griggs
Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing...
November 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29093808/sanger-sequencing-as-a-first-line-approach-for-molecular-diagnosis-of-andersen-tawil-syndrome
#4
Armando Totomoch-Serra, Manlio F Marquez, David E Cervantes-Barragán
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).  Recently, massive parallel sequencing, better known as next-generation sequencing (NGS),  is replacing the SSM for detecting mutations in cardiovascular diseases with a genetic background. The present opinion article wants to remark that "targeted" SSM is still effective as a first-line approach for the molecular diagnosis of some specific conditions, as is the case for Andersen-Tawil syndrome (ATS)...
2017: F1000Research
https://www.readbyqxmd.com/read/29023786/response-to-flecainide-test-in-andersen-tawil-syndrome-with-incessant-ventricular-tachycardia
#5
Marcos Fernández, María Del Rosario Marín, Juan Fernández-Armenta, Francisco Mora-López, Rafael Fernández Rivero, Antonio Berruezo, Lucas Cano Calabria, Rafael Vázquez García
No abstract text is available yet for this article.
October 12, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29017447/characterization-of-a-novel-kcnj2-sequence-variant-detected-in-andersen-tawil-syndrome-patients
#6
Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein
BACKGROUND: Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > G, p.Y145C) in this gene. The aim of this study was to investigate the effect of this variant on Kir2.1 ion channel functionality. METHODS: Mutant as well as wild type GFP tagged Kir2.1 channels were expressed in HEK293 cells...
October 10, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28956012/flecainide-ameliorates-arrhythmogenicity-through-ncx-flux-in-andersen-tawil-syndrome-ips-cell-derived-cardiomyocytes
#7
Yusuke Kuroda, Shinsuke Yuasa, Yasuhide Watanabe, Shogo Ito, Toru Egashira, Tomohisa Seki, Tetsuhisa Hattori, Seiko Ohno, Masaki Kodaira, Tomoyuki Suzuki, Hisayuki Hashimoto, Shinichiro Okata, Atsushi Tanaka, Yoshiyasu Aizawa, Mitsushige Murata, Takeshi Aiba, Naomasa Makita, Tetsushi Furukawa, Wataru Shimizu, Itsuo Kodama, Satoshi Ogawa, Norito Kokubun, Hitoshi Horigome, Minoru Horie, Kaichiro Kamiya, Keiichi Fukuda
Andersen-Tawil syndrome (ATS) is a rare inherited channelopathy. The cardiac phenotype in ATS is typified by a prominent U wave and ventricular arrhythmia. An effective treatment for this disease remains to be established. We reprogrammed somatic cells from three ATS patients to generate induced pluripotent stem cells (iPSCs). Multi-electrode arrays (MEAs) were used to record extracellular electrograms of iPSC-derived cardiomyocytes, revealing strong arrhythmic events in the ATS-iPSC-derived cardiomyocytes...
March 2017: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28491792/flecainide-treats-a-novel-kcnj2-mutation-associated-with-andersen-tawil-syndrome
#8
Hanora A Van Ert, Elise C McCune, Kate M Orland, Kathleen R Maginot, Nicholas H Von Bergen, Craig T January, Lee L Eckhardt
No abstract text is available yet for this article.
February 2017: HeartRhythm Case Reports
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
#9
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...
November 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#10
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...
May 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28106564/andersen-tawil-syndrome-with-early-onset-myopathy-2-cases
#11
Gokcen Oz Tuncer, Serap Teber, Muhammed Gültekin Kutluk, Pelin Albayrak, Gülhis Deda
No abstract text is available yet for this article.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28024840/intrafamilial-phenotypic-variability-in-andersen-tawil-syndrome-a-diagnostic-challenge-in-a-potentially-treatable-condition
#12
A Ardissone, V Sansone, L Colleoni, P Bernasconi, I Moroni
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27789106/reversible-dilated-cardiomyopathy-caused-by-a-high-burden-of-ventricular-arrhythmias-in-andersen-tawil-syndrome
#13
Saman Rezazadeh, Jiqing Guo, Henry J Duff, Raechel A Ferrier, Brenda Gerull
Andersen-Tawil syndrome (ATS) is caused by mutations in KCNJ2 (Kir2.1). It remains unclear whether dilated cardiomyopathy (DCM) is a primary feature of ATS. We studied a proband with typical physical features of ATS plus DCM and moderate to severe left ventricular dysfunction (left ventricular ejection fraction = 30.5%). Genetic screening revealed a novel mutation in Kir2.1 (c.665T>C, p.L222S). Functional studies showed that this mutation reduced ionic currents in a dominant-negative manner. Suppression of ventricular arrhythmias with bisoprolol led to normalization of left ventricular size and function...
December 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27698745/concomitant-presentation-of-anderson-tawil-syndrome-and-myasthenia-gravis-in-an-adult-patient-a-case-report
#14
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27145478/clinical-features-and-long-exercise-test-in-chinese-patients-with-andersen-tawil-syndrome
#15
Jie Song, Sushan Luo, Xin Cheng, Dongyue Yue, Wenhua Zhu, Jie Lin, Jun Huang, Jiahong Lu, Chongbo Zhao, Kai Qiao
INTRODUCTION: Andersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS. METHODS: Direct sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. Clinical features, therapeutic responses, and long exercise tests (LET) were retrospectively analyzed...
December 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27082780/7-t-35-cl-and-23-na-mr-imaging-for-detection-of-mutation-dependent-alterations-in-muscular-edema-and-fat-fraction-with-sodium-and-chloride-concentrations-in-muscular-periodic-paralyses
#16
Marc-André Weber, Armin M Nagel, Anja M Marschar, Philip Glemser, Karin Jurkat-Rott, Maya B Wolf, Mark E Ladd, Heinz-Peter Schlemmer, Hans-Ulrich Kauczor, Frank Lehmann-Horn
Purpose To determine whether altered sodium (Na(+)) and chloride (Cl(-)) homeostasis can be visualized in periodic paralyses by using 7-T sodium 23 ((23)Na) and chlorine 35 ((35)Cl) magnetic resonance (MR) imaging. Materials and Methods Institutional review board approval and informed consent of all participants were obtained. (23)Na (repetition time msec/echo time msec, 160/0.35) and (35)Cl (40/0.6) MR imaging of both lower legs was performed with a 7-T whole-body system in patients with genetically confirmed hypokalemic periodic paralysis (Cav1...
September 2016: Radiology
https://www.readbyqxmd.com/read/26937109/recurrent-syncope-in-the-andersen-tawil-syndrome-cardiac-or-neurological
#17
Michael David Fryer, Gerald Kaye, Susan Tomlinson
No abstract text is available yet for this article.
May 2015: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/26927354/identification-of-the-kcnj2-mutation-in-a-korean-family-with-andersen-tawil-syndrome-and-developmental-delay
#18
Na Ri Kim, Ja-Hyun Jang, Ga Won Jeon, Eun-Hae Cho, Jong Beom Sin
Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by the clinical triad of periodic paralysis, long QT with ventricular arrhythmias, and dysmorphic facial or skeletal features. However, the phenotypic heterogeneity and poor disease awareness of this syndrome can hinder an accurate and timely diagnosis. In this study, we describe a Korean family with Andersen-Tawil syndrome with a G215D mutation of the KCNJ2 gene revealed by diagnostic exome sequencing. Two sisters had severe growth restriction, characteristic facial anomalies, and developmental delay...
2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/26864374/bioelectric-signalling-via-potassium-channels-a-mechanism-for-craniofacial-dysmorphogenesis-in-kcnj2-associated-andersen-tawil-syndrome
#19
Dany Spencer Adams, Sebastien G M Uzel, Jin Akagi, Donald Wlodkowic, Viktoria Andreeva, Pamela Crotty Yelick, Adrian Devitt-Lee, Jean-Francois Pare, Michael Levin
KEY POINTS: Xenopus laevis craniofacial development is a good system for the study of Andersen-Tawil Syndrome (ATS)-associated craniofacial anomalies (CFAs) because (1) Kcnj2 is expressed in the nascent face; (2) molecular-genetic and biophysical techniques are available for the study of ion-dependent signalling during craniofacial morphogenesis; (3) as in humans, expression of variant Kcnj2 forms in embryos causes a muscle phenotype; and (4) variant forms of Kcnj2 found in human patients, when injected into frog embryos, cause CFAs in the same cell lineages...
June 15, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/26736094/andersen-tawil-syndrome-a-diagnostic-challenge
#20
LETTER
M Reyes Villatoro, Manlio F Márquez, Jorge Gómez-Flores, Santiago Nava, Luis Colín, Pedro Iturralde
No abstract text is available yet for this article.
February 15, 2016: International Journal of Cardiology
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