Results 51 to 60 of about 778,376 (312)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Health-related internet information-seeking behaviour among patients with known or suspected cardiac arrhythmias: an exploratory cross-sectional questionnaire survey

BMC Digital Health
Background Despite the widespread availability of online health information, little is known about health-related internet information-seeking behaviour among patients with cardiac arrhythmias.
Sara Borges Antunes, Firat Duru
doaj   +1 more source

Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience

Children
Background. Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure, arrhythmias, sudden cardiac death (SCD), and thromboembolic events. It is challenging
Irma Battipaglia, Nicoletta Cantarutti, Marianna Cicenia, Rachele Adorisio, Virginia Battista, Anwar Baban, Massimo Stefano Silvetti, Fabrizio Drago   +7 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias

Cells, 2021
Both inherited and acquired cardiac arrhythmias are often associated with the abnormal functional expression of ion channels at the cellular level. The complex machinery that continuously traffics, anchors, organizes, and recycles ion channels at the ...
Camille E. Blandin, Basile J. Gravez, Stéphane N. Hatem, Elise Balse   +3 more
doaj   +1 more source

Understanding cardiac arrhythmias [PDF]

Archives of Disease in Childhood, 2005
This review highlights the applied science intrinsic to the interpretation of the electrocardiogram and cardiac arrhythmias in children.
S, Chakrabarti, A G, Stuart
openaire   +2 more sources

Investigation on Sudden Unexpected Death in the Young (SUDY) in Europe: results of the European Heart Rhythm Association Survey. [PDF]

, 2022
The aims of this centre-based survey, promoted and disseminated by the European Heart Rhythm Association (EHRA) was to investigate the current practice for the investigation of Sudden Unexplained Death in the Young (SUDY) amongst European countries.
Frampton, Katie, Scrocco, Chiara, Rudaka, I, Schulze-Bahr, E, Crotti, L, Remme, Carol A, Remme, CA, Wilde, Arthur A. M., Boveda, S, Kosiuk, J, de Asmundis, Carlo, Wilde, AAM, Iliodromitis, KE, Crotti, Lia, Kosiuk, Jedrzej, Marijon, Eloi, Remme, Carol A., Jubele, K, Schulze-Bahr, Eric, Boveda, Serge, Behr, Elijah R., Wilde, Arthur A M, Iliodromitis, Konstantinos E., Jubele, Kristine, Wilde, Arthur A.M., de Asmundis, C, Conte, G, Brugada, GS, Hofman, Nynke, Tfelt-Hansen, Jacob, Rudaka, Irina, Behr, Elijah R, Tfelt-Hansen, J, Iliodromitis, Konstantinos E, Hofman, N, Conte, Giulio, Marijon, E, Frampton, K, Behr, ER, Scrocco, C, Brugada, Georgia Sarquella   +40 more
core   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

ALCOHOL AND HEART RHYTHM DISORDERS

Рациональная фармакотерапия в кардиологии, 2015
Alcohol abuse and particularly extension of alcohol consumption in alcohol diseas increases the risk of cardiac arrhythmias development and aggravates existing arrhythmias.
A. O. Yusupova, A. S. Lishuta
doaj   +3 more sources

Protecting the ischemic heart : pharmacological protection against myocardial ischemia in rats in vivo and in vitro [PDF]

, 2004
Today in Switzerland approximately 40% of all deaths are due to cardiovascular diseases. More than half of these are due to ischemic heart disease. Among the fatal consequences of ischemic heart disease are life-threatening arrhythmias and myocardial ...
Butz, Silvia
core   +1 more source