keyword
MENU ▼
Read by QxMD icon Read
search

andersen tawil

keyword
https://www.readbyqxmd.com/read/27789106/reversible-dilated-cardiomyopathy-caused-by-a-high-burden-of-ventricular-arrhythmias-in-andersen-tawil-syndrome
#1
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...
July 27, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
LETTER
Martha Abigaíl 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
https://www.readbyqxmd.com/read/26376421/-molecular-genetic-diagnostics-of-the-cause-of-ventricular-arrhythmias-in-children
#9
Anders Krogh Brøndberg, Jesper Vandborg Bjerre, Jens Cosedis Nielsen, Henrik Kjærulf Jensen
Andersen-Tawil syndrome (ATS) is a rare hereditary multi--system disorder consisting of a triad of symptoms, ventricular arrhythmias, periodic paralysis and dysmorphic features. The syndrome is associated with a loss of function mutation in the gene KCNJ2, which encodes the Kir2.1 inward rectifier potassium channel. We represent a case story of a 15-year-old girl who had unexplained arrhythmias for six years. Molecular genetic screening with a 75-heart-panel revealed a pathogenic KCNJ2 missense mutation. The patient was diagnosed with ATS...
September 14, 2015: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/26109178/coexistence-of-andersen-tawil-syndrome-with-polymorphisms-in-herg1-gene-k897t-and-scn5a-gene-h558r-in-one-family
#10
Michalina Jagodzińska, Małgorzata Szperl, Joanna Ponińska, Agnieszka Kosiec, Robert Gajda, Piotr Kukla, Elżbieta Katarzyna Biernacka
BACKGROUND: Andersen-Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. It is characterized by symptoms of ventricular arrhythmias, periodic paralysis or muscle weakness, and dysmorphic features. ATS can present with the triad of symptoms, any combination or none of them. Risk factors for dangerous arrhythmias are unknown. The study assessed the impact of K897T polymorphism in hERG1 gene and H558R polymorphism in SCN5A gene coexisting with R218Q mutation in KCNJ2 in one family on clinical manifestation...
March 2016: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/26103554/identification-and-functional-characterisation-of-a-novel-kcnj2-mutation-val302del-causing-andersen-tawil-syndrome
#11
Balázs Ördög, Lidia Hategan, Mária Kovács, György Seprényi, Zsófia Kohajda, István Nagy, Zoltán Hegedűs, László Környei, Norbert Jost, Márta Katona, Miklós Szekeres, Tamás Forster, Julius Gy Papp, András Varró, Róbert Sepp
Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. Clinical manifestations of the disease appear to vary greatly with the nature of mutation, therefore, functional characterisation of ATS-causing mutations is of clinical importance. In this study, we describe the identification and functional analysis of a novel KCNJ2 mutation, Val302del, identified in a patient with ATS...
July 2015: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/25814423/imipramine-for-incessant-ventricular-arrhythmias-in-2-unrelated-patients-with-andersen-tawil-syndrome
#12
Amee M Bigelow, Mohamed M Khalifa, John M Clark
No abstract text is available yet for this article.
July 2015: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/25780024/child-neurology-andersen-tawil-syndrome
#13
Mohammed Almuqbil, Myriam Srour
No abstract text is available yet for this article.
March 17, 2015: Neurology
https://www.readbyqxmd.com/read/25691870/ion-channelopathies-in-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-a-dynamic-clamp-study-with-virtual-ik1
#14
Rosalie M E Meijer van Putten, Isabella Mengarelli, Kaomei Guan, Jan G Zegers, Antoni C G van Ginneken, Arie O Verkerk, Ronald Wilders
Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) are widely used in studying basic mechanisms of cardiac arrhythmias that are caused by ion channelopathies. Unfortunately, the action potential profile of hiPSC-CMs-and consequently the profile of individual membrane currents active during that action potential-differs substantially from that of native human cardiomyocytes, largely due to almost negligible expression of the inward rectifier potassium current (IK1). In the present study, we attempted to "normalize" the action potential profile of our hiPSC-CMs by inserting a voltage dependent in silico IK1 into our hiPSC-CMs, using the dynamic clamp configuration of the patch clamp technique...
2015: Frontiers in Physiology
https://www.readbyqxmd.com/read/25616308/vanishing-weakness-and-persistent-cardiac-dysrhythmia-are-we-dealing-with-andersen-tawil-syndrome
#15
P Jhansi Rani, P Yashodhara, N V Sundarachary, U Veeramma, Shaik Mansoor Elahi, Sridhar Amalakanti, A Lalitha
Andersen Tawil Syndrome (ATS) is a very rare type of periodic paralysis; the authors present a case report from South India with features that have not been reported earlier. This case suggests many unexplored hypotheses for the disease and argues the need for physician sensitization of this entity.
July 2015: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/25496985/efficacy-and-safety-of-flecainide-for-ventricular-arrhythmias-in-patients-with-andersen-tawil-syndrome-with-kcnj2-mutations
#16
MULTICENTER STUDY
Koji Miyamoto, Takeshi Aiba, Hiromi Kimura, Hideki Hayashi, Seiko Ohno, Chie Yasuoka, Yoshihito Tanioka, Takeshi Tsuchiya, Yoko Yoshida, Hiroshi Hayashi, Ippei Tsuboi, Ikutaro Nakajima, Kohei Ishibashi, Hideo Okamura, Takashi Noda, Masaharu Ishihara, Toshihisa Anzai, Satoshi Yasuda, Yoshihiro Miyamoto, Shiro Kamakura, Kengo Kusano, Hisao Ogawa, Minoru Horie, Wataru Shimizu
BACKGROUND: Andersen-Tawil syndrome (ATS) is an autosomal dominant genetic or sporadic disorder characterized by ventricular arrhythmias (VAs), periodic paralyses, and dysmorphic features. The optimal pharmacological treatment of VAs in patients with ATS remains unknown. OBJECTIVE: We evaluated the efficacy and safety of flecainide for VAs in patients with ATS with KCNJ2 mutations. METHODS: Ten ATS probands (7 females; mean age 27 ± 11 years) were enrolled from 6 institutions...
March 2015: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/25415519/andersen-tawil-syndrome-with-early-fixed-myopathy
#17
Stela Lefter, Orla Hardiman, Donal Costigan, Bryan Lynch, John McConville, Collette K Hand, Aisling M Ryan
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed fluctuating weakness in addition to a fixed proximal myopathy. A 12-lead electrocardiogram showed prominent "U" waves, and McManis protocol prolonged exercise test showed an unusually early decline in the compound motor action potential amplitude by 51%...
December 2014: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/25410461/clinodactyly-and-syndactyly-diagnostic-clues-for-andersen-tawil-syndrome
#18
Carlos Andrade, Joana Meireles, Miguel Leão, Fernando Silveira
No abstract text is available yet for this article.
November 2014: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/25270337/-andersen-tawil-syndrome-a-review-of-its-clinical-and-genetic-diagnosis-with-emphasis-on-cardiac-manifestations
#19
REVIEW
Manlio F Márquez, Armando Totomoch-Serra, Gilberto Vargas-Alarcón, David Cruz-Robles, Oscar A Pellizzon, Manuel Cárdenas
The Andersen-Tawil syndrome is a cardiac ion channel disease that is inherited in an autosomal dominant way and is classified as type 7 of the congenital long QT syndromes. Affected gene is KCNJ2, which forms the inward rectifier potassium channel designated Kir2.1. This protein is involved in stabilizing the resting membrane potential and controls the duration of the action potential in skeletal muscle and heart. It also participates in the terminal repolarization phase of the action potential in ventricular myocytes and is a major component responsible for the correction in the potassium current during phase 3 of the action potential repolarization...
October 2014: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/25188014/muscle-channelopathies-recent-advances-in-genetics-pathophysiology-and-therapy
#20
REVIEW
Karen Suetterlin, Roope Männikkö, Michael G Hanna
PURPOSE OF REVIEW: This article reviews recent advances in clinical, genetic, diagnostic and pathophysiological aspects of the skeletal muscle channelopathies. RECENT FINDINGS: Genetic advances include the use of the minigene assay to confirm pathogenicity of splice site mutations of CLC-1 chloride channels and a new gene association for Andersen-Tawil syndrome. Mutations causing a gating pore current have been established as a pathomechanism for hypokalaemic periodic paralysis...
October 2014: Current Opinion in Neurology
keyword
keyword
63138
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"