Results 81 to 90 of about 165,259 (299)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Local Anaesthesia Suppressing Idiopathic Ventricular Tachycardia - A Cause of Non-inducible Arrhythmia During Electrophysiology Study

Indian Pacing and Electrophysiology Journal, 2013
A 13 year old boy having idiopathic ventricular tachycardia had non-inducible tachycardia twice on electrophysiology (EP) study due to suppression of arrhythmia by local anaesthetic agent, lignocaine.
Shomu Bohora, MD, Vishal Poptani, MD, Yash Lokhandwala, MD   +2 more
doaj   +1 more source

Facilitation of I Kr current by some hERG channel blockers suppresses early afterdepolarizations. [PDF]

, 2019
Drug-induced block of the cardiac rapid delayed rectifying potassium current (I Kr), carried by the human ether-a-go-go-related gene (hERG) channel, is the most common cause of acquired long QT syndrome.
Chen, I-Shan, Furutani, Kazuharu, Handa, Kenichiro, Kurachi, Yoshihisa, Sack, Jon T, Tsumoto, Kunichika, Yamakawa, Yuko   +6 more
core   +1 more source

Using skewness and the first-digit phenomenon to identify dynamical transitions in cardiac models [PDF]

, 2016
Disruptions in the normal rhythmic functioning of the heart, termed as arrhythmia, often result from qualitative changes in the excitation dynamics of the organ.
Easwaran, Soumya, Seenivasan, Pavithraa, Sinha, Sitabhra, Sridhar, S.   +3 more
core   +2 more sources

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Development of a Halothane-Adrenaline Arrhythmia Model Using In Vivo Guinea Pigs

Journal of Pharmacological Sciences, 2004
In vivo antiarrhythmic effects of diltiazem hydrochloride and nifekalant hydrochloride, a pure class III antiarrhythmic drug (Vaughan Williams’ classification), on adrenaline induced ventricular arrhythmias were examined in halothane anesthetized guinea ...
Yoshiaki Noda, Keitaro Hashimoto
doaj   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Usefulness of non-contact mapping for catheter ablation of ventricular tachycardias originating at the right ventricular outflow tract

Journal of Arrhythmia, 2014
Background: Different QRS morphologies are often observed in idiopathic ventricular tachycardias or premature ventricular contractions originating from the right ventricular outflow tract (RVOT).
Tadashi Hoshiyama, MD, Hiroshige Yamabe, MD, PhD, FJCC, Junjiroh Koyama, MD, PhD, Hisanori Kanazawa, MD, Miwa Ito, MD, Hisao Ogawa, MD, PhD, FJCC   +5 more
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source