Results 41 to 50 of about 264,698 (302)

Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation

Frontiers in Pediatrics, 2021
Aim: To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics.Methods: Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is caused by
Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Sergi Cesar, Elena Arbelo, Elena Arbelo, Paloma Jordà, Paloma Jordà, Ana García-Álvarez, Ana García-Álvarez, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Victoria Fiol, Josep Brugada, Josep Brugada, Josep Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano   +22 more
doaj   +1 more source

Cardiovascular outcomes with semaglutide versus tirzepatide in patients with obesity and atherosclerotic cardiovascular disease without diabetes

American Heart Journal Plus
Background: Comparative cardiovascular data on glucagon-like peptide-1 (GLP-1) agonists versus dual glucose-dependent insulinotropic polypeptide (GIP)/GLP-1 agonists in atherosclerotic cardiovascular disease (ASCVD) without diabetes are limited. Methods:
Mohamed Doma, Adham Ramadan, Mohammad Hosein Yazdanpanah, Farhan Naeem, Leon M. Ptaszek, Jeremy N. Ruskin   +5 more
doaj   +1 more source

REEP5 (Receptor Accessory Protein 5) Acts as a Sarcoplasmic Reticulum Membrane Sculptor to Modulate Cardiac Function

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
BackgroundHeart failure is a complex syndrome characterized by cardiac contractile impairment with high mortality. Defective intracellular Ca2+ homeostasis is the central cause under this scenario and tightly links to ultrastructural rearrangements of ...
Lei Yao, Duanyang Xie, Li Geng, Dan Shi, Jian Huang, Yufei Wu, Fei Lv, Dandan Liang, Li Li, Yi Liu, Jun Li, Yi‐Han Chen   +11 more
doaj   +1 more source

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

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

LRP6 acts as a scaffold protein in cardiac gap junction assembly

Nature Communications, 2016
LRP6 is known for its role as a Wnt co-receptor essential for the canonical Wnt/β-catenin signaling. Here, Li et al. show that LRP6 exerts a Wnt-independent scaffold function and regulates connexin 43 gap junction formation and coupling of cardiomyocytes
Jun Li, Changming Li, Dandan Liang, Fei Lv, Tianyou Yuan, Erlinda The, Xiue Ma, Yahan Wu, Lixiao Zhen, Duanyang Xie, Shiyi Wang, Yuan Liu, Jian Huang, Jingyi Shi, Yi Liu, Dan Shi, Liang Xu, Li Lin, Luying Peng, Jianmin Cui, Weidong Zhu, Yi-Han Chen   +21 more
doaj   +1 more source

How Cardiac Embryology Translates into Clinical Arrhythmias

, 2021
The electrophysiological signatures of the myocardium in cardiac structures, such as the atrioventricular node, pulmonary veins or the right ventricular outflow tract, are established during development by the spatial and temporal expression of ...
Monique R. M. Jongbloed, Boukens, Bastiaan J., Michiel Blok, Rivaud, Mathilde R., Jongbloed, Monique R. M., Mathilde R. Rivaud, Blok, Michiel, Bastiaan J. Boukens   +7 more
core   +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

Investigation of the prevalence of Cognitive Impairment and its risk factors within the elderly population in Shanghai, China

Scientific Reports, 2018
To investigate the prevalence of cognitive impairment and its risk factors among Chinese elders aged over 80 years, a community-based, cross-sectional study was conducted from May to June 2016 in Shanghai, China.
Longbing Ren, Yongtao Zheng, Lezhou Wu, Yijun Gu, Yusheng He, Bo Jiang, Jie Zhang, Lijuan Zhang, Jue Li   +8 more
doaj   +1 more source

Monomorphic Ventricular Arrhythmias in Athletes [PDF]

, 2019
Ventricular arrhythmias are challenging to manage in athletes with concern for an elevated risk of sudden cardiac death (SCD) during sports competition. Monomorphic ventricular arrhythmias (MMVA), while often benign in athletes with a structurally normal
Ravi H Dave, Dave, Ravi H, Jeffrey J Hsu, Noel G Boyle, Nsair, Ali, Ali Nsair, Boyle, Noel G, Tamara B Horwich, Horwich, Tamara B, Bradfield, Jason S, Jamil A Aboulhosn, Kalyanam Shivkumar, Shivkumar, Kalyanam, Shannon, Kevin M, Kevin M Shannon, Aboulhosn, Jamil A, Jason S Bradfield, Hsu, Jeffrey J   +17 more
core   +1 more source