Results 41 to 50 of about 314,455 (204)

Good response to plasmapheresis and mycophenolate mofetil in a patient with anti-synthetase syndrome associated with peripheral neuritis and severe prosthetic aortic valve stenosis

Egyptian Rheumatology and Rehabilitation, 2022
Background Idiopathic inflammatory myopathies (IIM) are a disease complex that encompasses several distinctly acquired muscle illnesses. Anti-synthetase syndrome is a subset of IIM that is characterized by the presence of antibodies against aminoacyl ...
Zahraa Nour Eldine Ismail, Elham Azmy Abdulkader Abdellatif   +1 more
doaj   +1 more source

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature

Frontiers in Neurology, 2023
IntroductionRimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding
Xiao-jing Wei, Hui Sun, Jing Miao, Ru-qing Qiu, Zong-zhi Jiang, Zhen-wei Ma, Wei Sun, Xue-fan Yu   +7 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]

, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni   +43 more
core   +2 more sources

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

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core   +1 more source

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala

Annals of Indian Academy of Neurology
Bethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of ...
Jayaram Saibaba, Saranya B Gomathy, Santhakumar Senthilvelan, Ramkumar Sugumaran, Sunil K Narayan   +4 more
doaj   +1 more source

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

HGG Advances, 2023
Summary: Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases that ...
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad   +17 more
doaj   +1 more source

Beyond Visual Scoring: Computational Computed Tomography Analysis for High‐Resolution Computed Tomography–Based Quantification of Interstitial Lung Disease in Inflammatory Rheumatic Disease

Arthritis Care &Research, EarlyView.
Interstitial lung disease (ILD) is a significant cause of morbidity and mortality in patients with inflammatory rheumatic disorders (IRDs). High‐resolution computed tomography (HRCT) is widely considered the gold standard for the noninvasive assessment of ILD; however, its interpretation is constrained by substantial interobserver variability and the ...
Alexander Pfeil, Tobias Hoffmann, Ulf Teichgräber, Diane Renz, Denise Beckmann, Gunter Wolf, Nicole Schadewaldt, Bianca Lassen‐Schmidt   +7 more
wiley   +1 more source

Distal Myopathy

The Tohoku Journal of Experimental Medicine, 1990
Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. There were many reports in the past concerning the varieties of the distal myopathy. Distal myopathy is a rather rare disorder and it may be difficult to diagnose these cases.
openaire   +3 more sources