Results 31 to 40 of about 4,799 (165)

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

Orphanet Journal of Rare Diseases, 2020
Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura   +8 more
doaj   +1 more source

Woody breast myopathy broiler show age-dependent adaptive differential gene expression in Pectoralis major and altered in-vivo triglyceride kinetics in adipogenic tissues

Poultry Science, 2021
: A study was conducted to understand the differentially expressed genes in Pectoralis (P) major under woody breast (WB) myopathy condition in a high yielding broiler strain using RNA-sequencing at the growing (d 21) and finishing (d 42 and d 56) grow ...
Pramir Maharjan, Antonio Beitia, Jordan Weil, Nawin Suesuttajit, Katie Hilton, Justina Caldas, Cole Umberson, Diego Martinez, Byungwhi Kong, Casey M. Owens, Craig Coon   +10 more
doaj   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

The value of myositis-specific autoantibodies in the diagnosis of idiopathic inflammatory myopathy and tumor risk prediction

Journal of International Medical Research
Objective To investigate the value of myositis-specific autoantibodies in the diagnosis of idiopathic inflammatory myopathy and tumor risk prediction in patients with clinically suspected idiopathic inflammatory myopathy. Methods This retrospective study
Lili Shi, Rong Min, Yanyan Wu, Jiahui Liu, Xia Liu, Peichang Wang   +5 more
doaj   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source

Case Report: Monoclonal Gammopathies of Clinical Significance-Associated Myopathy: A Case-Based Review

Frontiers in Oncology, 2022
Monoclonal gammopathies of clinical significance (MGCS)-associated myopathy is a group of muscular MGCS-based rare manifestations. It mainly includes amyloid light chain (AL) amyloidosis and sporadic late-onset nemaline myopathy with monoclonal ...
Hongbin Yu, Du He, Qing Zhang, Bei Cao, Weiping Liu, Yu Wu   +5 more
doaj   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Myopathies of endocrine disorders: A prospective clinical and biochemical study

Annals of Indian Academy of Neurology, 2014
Introduction: Major categories of endocrine myopathy include those associated with: Adrenal dysfunction (as in Cushing′s disease or steroid myopathy); thyroid dysfunction (as in myxedema coma or thyrotoxic myopathy); vitamin D deficiency; parathyroid ...
Vikas Sharma, Papori Borah, Lakshya J Basumatary, Marami Das, Munindra Goswami, Ashok K Kayal   +5 more
doaj   +1 more source

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

eNeurologicalSci, 2020
Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara, Yoshihiko Saito, Mutsufusa Watanabe, Saneyuki Mizutani, Masaki Kobayashi, Aritoshi Iida, Ichizo Nishino, Hiroto Fujigasaki   +7 more
doaj   +1 more source

A Case Report of Statin-Induced Immune-Mediated Necrotizing Myopathy Treatment Challenges

Case Reports in Rheumatology, 2022
Statin-induced necrotizing autoimmune myopathy is an immune-mediated necrotizing myopathy related to the use of statins. It is a very rare disease, which usually presents with proximal muscle weakness and frank elevation in creatine kinase levels ...
Anwar I. Joudeh, Mhd Kutaiba Albuni, Sara Seife Hassen, Phool Iqbal, Elsaid Mohamed Aziz Bedair, Salah Mahdi   +5 more
doaj   +1 more source