Results 111 to 120 of about 116,069 (304)

Coexistence of central nucleus, cores, and rods: Diagnostic relevance

Annals of Indian Academy of Neurology, 2016
Background: Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. Objective: A retrospective reassessment of cases diagnosed as CMs
Sathiyabama Dhinakaran, Rashmi Santhosh Kumar, Ravindra Thakkar, Gayathri Narayanappa   +3 more
doaj   +1 more source

[Sarcoid Peripheral Neuropathy and Myopathy: A Diagnostic and Therapeutic Challenge].

Sarcoidosis is an idiopathic granulomatous multi-organ disease, primarily affecting the respiratory system, eyes, and skin, with less involvement in peripheral neurons and muscles.
Fujisawa, Miwako
core   +1 more source

Immune Complexes Shape the Pathogenicity of Autoantibodies in Systemic Autoimmune Diseases: Insights From an FcγRIIIA‐Reporter Assay

Arthritis &Rheumatology, EarlyView.
Objective Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.
Koji Suzuki, Masaru Takeshita, Yuki Imai, Hiroyuki Fukui, Kazunori Furuhashi, Kotaro Matsumoto, Jun Kikuchi, Keiko Yoshimoto, Yuko Kaneko   +8 more
wiley   +1 more source

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

T Cell Plasticity in Systemic Lupus Erythematosus Revealed by Large‐Scale T Cell Receptor Repertoire and Transcriptome Studies

Arthritis &Rheumatology, EarlyView.
Objective We aimed to characterize CD4+ T cell plasticity in human systemic lupus erythematosus (SLE) by leveraging T cell receptor (TCR) repertoire features as markers of prior lineage states, integrating TCR and transcriptomic profiling to delineate plasticity patterns and evaluate their association with clinical disease activity. Methods We used TCR
Yasuo Nagafuchi, Masahiro Nakano, Kaitlyn A. Lagattuta, Mineto Ota, Hiroaki Hatano, Haruka Takahashi, Takahiro Itamiya, Hajime Inokuchi, Soumya Raychaudhuri, Tomohisa Okamura, Keishi Fujio, Kazuyoshi Ishigaki   +11 more
wiley   +1 more source

Patients with chronic heart failure and predominant left atrial versus left ventricular myopathy

Cardiovascular Ultrasound
Background Left atrial (LA) and ventricular (LV) functional impairment often co-exist in patients with heart failure (HF). However, some patients with HF have a disproportionate LA or LV dysfunction.
Xuanyi Jin, Wan Ting Tay, Dinna Soon, David Sim, Seet Yoong Loh, Sheldon Lee, Fazlur Jaufeerally, Lieng Hsi Ling, A. Mark Richards, Adriaan A. Voors, Carolyn S. P. Lam, Joost P. van Melle   +11 more
doaj   +1 more source

Integrated Clinical and Proteomic Profiling of CD19 Chimeric Antigen Receptor T Cell Therapy in Progressive Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Objective To characterize the clinical, immunologic, and proteomic changes associated with CD19 chimeric antigen receptor T cell therapy in patients with progressive systemic sclerosis (SSc). Methods Patients with progressive SSc received CD19 chimeric antigen receptor (CAR)‐T cell therapy and were observed longitudinally for safety, clinical efficacy,
Chenhan Jia, Wanyi Lin, Zhangyi Zhao, Fenglin Wu, Chaoyu Gu, Yuankai Sun, Zhe Ding, Chang Wei, Xinyu Li, Cuiwei Xie, Peng Xia, Zhen Xia, Xuesong Liu, Shaoying Yang, Chunyan Zhang, Hanlin Yin, Liangjing Lu   +16 more
wiley   +1 more source

Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

Clinical Medicine Insights: Cardiology, 2016
Objectives Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in ...
Josef Finsterer, Claudia Stöllberger
doaj   +1 more source

Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy

Neurobiology of Disease, 2012
The genetic basis of oculopharyngeal muscular dystrophy (OPMD) is a short expansion of a polyalanine tract (normal allele: 10 alanines, mutant allele: 11–17 alanines) in the nuclear polyadenylate binding protein PABPN1 which is essential for controlling ...
Ami Mankodi, Thurman M. Wheeler, Reena Shetty, Kelly M. Salceies, Mark W. Becher, Charles A. Thornton   +5 more
doaj   +1 more source

Myopathy following postoperative ablative radioiodine for follicular carcinoma of the thyroid

, 2009
Hermione C Price, Vijay JayagopalCentre for Diabetes and Endocrinology, York Hospital, York, UKAbstract: We highlight a case of disabling myopathy following radioablative iodine treatment for follicular carcinoma of the thyroid.
Vijay Jayagopal, Hermione C Price
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