Results 41 to 50 of about 20,847 (184)

Management and Treatment of Andersen-Tawil Syndrome (ATS) [PDF]

Neurotherapeutics, 2007
Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1.
V. Sansone, R. Tawil
openaire   +3 more sources

Successful treatment of arrhythmia with β‐blocker and flecainide combination in pregnant patients with Andersen–Tawil syndrome: A case report and literature review

Annals of Noninvasive Electrocardiology, 2021
Andersen–Tawil syndrome (ATS) is a rare disorder characterized by a triad of ventricular arrhythmia (VA), dysmorphic features, and periodic paralysis.
Pongprueth Rujirachun, Apichaya Junyavoraluk, Manop Pithukpakorn, Bhoom Suktitipat, Arjbordin Winijkul   +4 more
doaj   +1 more source

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience

International Journal of Pediatrics & Adolescent Medicine, 2022
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, ventricular arrhythmia, and dysmorphic features. However, the classical features are not always seen in the syndrome; therefore, the diagnosis can be ...
Norah A. Alrashed, Waleed M. Al-Manea, Sahar A. Tulbah, Zuhair N. Al-Hassnan   +3 more
doaj   +1 more source

Child Neurology: Andersen-Tawil syndrome [PDF]

Neurology, 2020
Two images of patients in the article “Child Neurology: Andersen-Tawil syndrome” by Almuqbil and Srour,1 published online March 16, 2015, have been removed because the patients requested that their consent for publication be withdrawn. The removal of the images does not invalidate the paper because an extensive verbal description of the patients was ...
openaire   +2 more sources

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

BMC Medical Genetics, 2017
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 > 
Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein   +5 more
doaj   +1 more source

Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes

Biochemistry and Biophysics Reports, 2017
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.
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   +25 more
doaj   +1 more source

Coincidence of Andersen–Tawil syndrome and Marfan syndrome: A case report [PDF]

Annals of Noninvasive Electrocardiology, 2019
AbstractWe report on a 44‐year‐old woman with coincidence of two genetic disorders: Andersen–Tawil syndrome and Marfan syndrome. In both, life‐threatening arrhythmias could occur. A 44‐year‐old woman presented acute ascending aortic dissection with aortic arch involvement and chronic thoracic descending and abdominal aortic dissection.
Michalina Krych, Joanna Ponińska, Zofia T. Bilińska, Rafał Płoski, Elżbieta K. Biernacka   +4 more
openaire   +2 more sources

Factors Associated with Fibromyalgia Diagnosis amongst People Meeting Criteria: Results from UK Biobank

Arthritis Care &Research, Accepted Article.
Objective The diagnosis of fibromyalgia (FM) is challenging due to the absence of definitive biomarkers, numerous overlapping comorbidities and its reliance on patient‐reported symptoms. Discrepancies between diagnostic criteria and clinical practice imply the possibility of diagnostic biases, complicating timely and accurate identification. This study
Sung‐A Kim, Gary J. Macfarlane, Marcus J. Beasley   +2 more
wiley   +1 more source

Electrocardiogram in Andersen-Tawil Syndrome. New Electrocardiographic Criteria for Diagnosis of Type-1 Andersen-Tawil Syndrome [PDF]

Current Cardiology Reviews, 2014
Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified in patients with ATS.
Kukla, Piotr, Biernacka, Elżbieta K, Baranchuk, Adrian, Jastrzębski, Marek, Jagodzińska, Michalina   +4 more
openaire   +2 more sources

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source