Results 71 to 80 of about 4,617,969 (324)

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

Takotsubo Cardiomyopathy in Myasthenic Crisis

, 2020
To the Editor: We report a case series of 4 patients with Takotsubo cardiomyopathy (TC) in the setting of myasthenic crisis (see Table 1, Supplemental Digital Content 1, http://links.lww.com/JCND/A36).
Matthew Katz, Tsang, B, Corbett, J, Joel Corbett, Stephen Walsh, Sabet, A, Pamela McCombe, Katz, M, Walsh, S, McCombe, P, Arman Sabet, Ben Tsang   +11 more
core   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

[Stress cardiomyopathy].

Casopis lekaru ceskych, 2007
Stress cardiomyopathy is a disease characterized by an acute systolic dysfunction of the left ventricle of the heart which is fully reversible and does not affect basal segments of the left ventricle. It is not accompanied by significant stenoses of the coronary arteries and it is caused by a preceding stressful situation.
M, Wiendl, J, Kettner, T, Marek, V, Karmazín, D, Kautznerová   +4 more
openaire   +3 more sources

Microfabricated Anisotropic Myobundles for the Scalable Production of Cardiac Tissue Grafts

Advanced Functional Materials, EarlyView.
Controlling the anisotropy of cardiac tissue remains an outstanding challenge in the field of cardiac tissue engineering. Here, we introduce an approach to generate anisotropic cardiac myobundles using cell‐adhesive, synthetic, electrospun fibers and stem cell‐derived cardiac fibroblasts.
Maggie E. Jewett, Javiera Jilberto, Margaret E. Stanley, David O. Ntim, Siddhi M. Bhirud, Avianna T. Schroeder, Gonzola X. Anyosa Galvez, Jingyi Xia, Samuel J. DePalma, Emmanouil Agrafiotis, Susan S. Xi, Amanda S. Bluem, Courtney M. Lestock, Adam S. Helms, David A. Nordsletten, Brendon M. Baker   +15 more
wiley   +1 more source

Takotsubo syndrome and COVID‐19: A systematic review

Health Science Reports, 2023
Background and Aims Takotsubo syndrome (TTS), also known as stress cardiomyopathy, is characterized by acute and transient left ventricular dysfunction and has increased during the COVID‐19 pandemic.
Hoomaan Ghasemi, Sina Kazemian, Seyed Aria Nejadghaderi, Mahan Shafie   +3 more
doaj   +1 more source

Oxidative Stress Signaling Mediated Pathogenesis of Diabetic Cardiomyopathy

Oxidative Medicine and Cellular Longevity, 2022
As a serious cardiovascular complication, diabetic cardiomyopathy (DCM) refers to diabetes‐related changes in myocardial structure and function, which is obviously different from those cardiomyopathy secondary to hypertension, coronary heart disease, and
Zhaobing Tang, Peng Wang, Chao Dong, Juan Zhang, Xiong Wang, H. Pei   +5 more
semanticscholar   +1 more source

Role of urate, xanthine oxidase and the effects of allopurinol in vascular oxidative stress [PDF]

, 2009
Oxidative stress plays an important role in the progression of vascular endothelial dysfunction. The two major systems generating vascular oxidative stress are the NADPH oxidase and the xanthine oxidase pathways. Allopurinol, a xanthine oxidase inhibitor,
Struthers, Allan D., Jacob George, George, Jacob   +2 more
core   +1 more source

PGC-1α Agonist Rescues Doxorubicin-Induced Cardiomyopathy by Mitigating the Oxidative Stress and Necroptosis

, 2023
Cardiomyopathy (particularly dilated cardiomyopathy (DCM)) significantly contributes to development and progression of heart failure (HF), and inflammatory factors further deteriorate the symptoms.
Manoj Kumar Tembhre, Ramakrishnan Lakshmy, Shipra, Neetu Bhari, Milind Padmakar Hote, S. Senthil Kumaran   +5 more
core   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source