Results 71 to 80 of about 9,985 (188)

Sudden cardiac arrest in a young patient—a systematic diagnostic journey leading to the diagnosis: case report [PDF]

Exploration of Cardiology
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially life-threatening inherited arrhythmia disorder, often presenting in childhood or adolescence.
Mónica Dias, Sofia Fernandes, Sérgia Rocha, Carina Arantes   +3 more
doaj   +1 more source

A case of catecholaminergic polymorphic ventricular tachycardia masquerading as an intractable seizure

Annals of Pediatric Cardiology, 2020
A 5-year-old boy with the history of intractable seizure for the past 2 years was transferred to the emergency room for cardiopulmonary resuscitation because of the prolonged seizure and profound cyanosis.
Reza Shabanian, Manizheh Ahani, Shima Zandiyeh, Aliyeh Nikdoost, Minoo Dadkhah, Parvin Akbari Asbagh, Reza Shervin Badv   +6 more
doaj   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

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

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Frontiers in Neurology, 2020
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

TRPV4-pathy, a novel channelopathy affecting diverse systems.

, 2010
Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a calcium-permeable nonselective cation channel of unknown biological function. TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant
Ok-Hwa Kim, Andrea Superti-Furga, Kim, Ok-Hwa, Lausch, E, Tae-Joon Cho, Kim, OH, Ekkehart Lausch, Jin Dai, Sheila Unger, Shiro Ikegawa, Unger, Sheila, Lausch, Ekkehart, Superti-Furga, Andrea, Gen Nishimura, Cho, Tae-Joon, Nishimura, G, Superti-Furga, A, Nishimura, Gen, Ikegawa, Shiro, Dai, J, Ikegawa, S, Dai, Jin, Unger, S, Cho, TJ   +23 more
core   +1 more source

Analysis of individualized brain–gut association networks and transcriptional patterns in major depressive disorder

Interdisciplinary Medicine, EarlyView.
Individualized brain–gut association networks suggest potential neuropathological mechanisms in MDD and MDDSI. Multilevel brain–gut association changes involving HSV‐1 and inflammation may be relevant to MDD, whereas alterations related to insulin metabolism may play a potential role in the neuropathological mechanisms of MDDSI.
Wei Wang, Baoyuan Zhu, Yuanyuan Huang, Liqin Liang, Zhaobo Li, Yunheng Diao, Minxin Guo, Heng Zhang, Jing Zhou, Fengchun Wu, Kai Wu   +10 more
wiley   +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

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source