Results 101 to 110 of about 441,361 (298)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Jiri Bonaventura, Ethan J. Rowin, Martin S. Maron, Barry J. Maron   +3 more
doaj   +1 more source

Role of Shear Wave Elastography in the Assessment of Myocardial Stiffness in Various Cardiomyopathies [PDF]

, 2023
Fábio Fernandes, Nathalia Conci Santorio, Natália de Melo Pereira, Caio Rebouças Fonseca Cafezeiro, Aristóteles Comte de Alencar, Bruno Vaz Kerges Bueno, Fernando Linhares Pereira, Maria Cristina Chammas   +7 more
openalex   +1 more source

Noradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy

The Anatomical Record, EarlyView.
Abstract Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.
Peter Hanna, Donald B. Hoover, Logan G. Kirkland, Elizabeth H. Smith, Megan D. Poston, Stanley G. Peirce, Chloe G. Garbe, Tasha K. Phillips, Steven Cha, Shumpei Mori, Jaclyn A. Brennan, John Andrew Armour, Eric Rytkin, Igor R. Efimov, Olujimi A. Ajijola, Jeffrey L. Ardell, Kalyanam Shivkumar   +16 more
wiley   +1 more source

Determination of selenium speciation in the muscle, kidney, and liver from different animals treated with different selenium supplements by HPLC‐ICP‐MS

Animal Research and One Health, EarlyView.
Dietary selenium (Se) deficiency is recognized as a global problem, and exogenous Se supplementation can effectively enrich its levels in animal bodies. Offal tissues are equally important as meat in Se enrichment. Varying properties among Se species require information beyond total Se concentration to fully evaluate health risk/benefits.
Xiaoqing Guo, Xueting Jia, Kai Zhang, Chaohua Tang, Xueyang Si, Bo He, Manus Carey, Lynda S. Perkins, Qingyu Zhao, Junmin Zhang   +9 more
wiley   +1 more source

Cytokine pathways driving diverse tissue pathologies in rheumatoid arthritis

Arthritis &Rheumatology, Accepted Article.
Rheumatoid arthritis is a complex systemic disorder characterised primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease e.g. of the lung with potentially devastating clinical consequences.
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Future Role of New Negative Inotropic Agents in the Era of Established Surgical Myectomy for Symptomatic Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Barry J. Maron, Martin S. Maron, Mark V. Sherrid, Ethan J. Rowin   +3 more
doaj   +1 more source

The Effect of Benralizumab and Mepolizumab on Use of Oral Glucocorticoids in Patients with Eosinophilic Granulomatosis with Polyangiitis

Arthritis &Rheumatology, Accepted Article.
Objective The Phase 3 MANDARA study demonstrated non‐inferiority of benralizumab versus mepolizumab for remission in patients with eosinophilic granulomatosis with polyangiitis (EGPA). More benralizumab‐treated patients achieved complete withdrawal of oral glucocorticoids (OGCs).
Parameswaran K. Nair, Bernhard Hellmich, Arnaud Bourdin, David R. W. Jayne, Florence Roufosse, Nader Khalidi, Lena Börjesson Sjö, Ying Fan, Christopher McCrae, Sofia Necander, Eva Rodríguez‐Suárez, Anat Shavit, Claire Walton, Peter A. Merkel, Michael E. Wechsler   +14 more
wiley   +1 more source

A case report of adolescent myofibrillar myopathy due to a de novo R406W pathogenic variant in desmin with symptoms of “hypertrophic cardiomyopathy”

Heliyon
Objective: Myofibrillar myopathies (MFM) are a group of sporadic and inherited progressive skeletal muscle disorders that can lead to physical disability and premature death. To date, pathogenic variants in different genes are associated with MFM.
Hongyan Xiao, Laichun Song, Liang Tao
doaj   +1 more source

Telomere Length of Peripheral Blood Leukocytes Predicts Disease Severity and Worse Survival in Systemic Sclerosis

Arthritis &Rheumatology, Accepted Article.
Objective Peripheral blood leukocyte telomere length (PBL‐TL) shortening is associated with systemic sclerosis related interstitial lung disease (SSc‐ILD). However, its association with other organ involvement, disease severity, and survival remains unclear.
Monica M. Yang, Shuo Liu, Michael Wax II, Seoyeon Lee, Sarah French, Paul J. Wolters, Francesco Boin   +6 more
wiley   +1 more source