Results 81 to 90 of about 16,999 (238)

Exercising electrocardiograms from Thoroughbred racehorses with exercise associated sudden death

Equine Veterinary Journal, EarlyView.
Abstract Background Exercise associated sudden death (EASD), defined as a fatal collapse in a closely monitored and previously presumed clinically healthy horse that occurs during exercise or within approximately 1 h after exercise, is disproportionately more common in equine than in human athletes.
Cristobal Navas de Solis, M. Durando, L. Nath, S. Durward‐Akhurst   +3 more
wiley   +1 more source

Is it time to loosen the restrictions on athletes with cardiac disorders competing in sport? [PDF]

, 2017
Sudden cardiac death (SCD) in young athletes is a rare and dramatic event. Initial consensus guidelines from 2005 recommend restriction from competitive sports for all athletes with hereditary cardiomyopathies and channelopathies, with very minor ...
Lambiase, P, Mueser, KT, Providência, R, Segal, O, Teixeira, C, Ullstein, A   +5 more
core   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Smith, Andrew H, Fish, Frank A, Kannankeril, Prince J   +2 more
core   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

Frontiers in Physiology, 2020
Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from benign ...
Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David B. Goldstein, Edward C. Cooper, Maria Roberta Cilio, Maurizio Taglialatela, Tristan T. Sands, Tristan T. Sands   +14 more
doaj   +1 more source

Insights into channel function via channel dysfunction [PDF]

, 2003
The nicotinic synapse has been a touchstone for advances in neuroscience ever since Jean Nicot, the French ambassador to Portugal, sent some tobacco seeds home to Paris in 1550 with a note that the New World plant had interesting effects when smoked. Now
Leite, John F., Lester, Henry A., Rodrigues-Pinguet, Nivalda   +2 more
core  

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]

, 2014
Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A., Dias-da-Silva, Magnus Régios, Kunii, Ilda Shizue, Maciel, Rui Monteiro de Barros, Paninka, Rolf M., Reche, Archivaldo, Simoes, Denise M. N., Zapata, Marlyn   +7 more
core   +4 more sources

Ventricular Tachycardia in the Absence of Structural Heart Disease [PDF]

In up to 10% of patients who present with ventricular tachycardia (VT), obvious structural heart disease is not identified. In such patients, causes of ventricular arrhythmia include right ventricular outflow tract (RVOT) VT, extrasystoles, idiopathic ...
Srivathsan, Komandoor, Lester, Steven J, Appleton, Christopher P, Scott, Luis R P, Munger, Thomas M   +4 more
core  

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis. [PDF]

, 2019
Periodic paralysis is an ion channelopathy of skeletal muscle in which recurrent episodes of weakness or paralysis are caused by sustained depolarization of the resting potential and thus reduction of fiber excitability.
Cannon, Stephen C, DiFranco, Marino, Mi, Wentao, Quinonez, Marbella, Wu, Fenfen   +4 more
core   +1 more source