Results 51 to 60 of about 18,649 (278)

Treatment of idiopathic Inflammatory myopathies [PDF]

, 2014
Idiopathic inflammatory myopathies are a group of rare, disorders with the primary features of muscle weakness and inflammatory lesions identified in skeletal muscle specimens.
Bercovici, Einav
core  

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

BIN1 and ALDH1B1 Deficiency in Colonic Smooth Muscle Drives Mitochondrial Dysfunction and Fibrosis in Slow‐Transit Constipation

Advanced Science, EarlyView.
Slow‐transit constipation (STC) is a disabling motility disorder with unclear smooth‐muscle mechanisms. Spatial proteomic analysis of STC patient colon reveals both the central pathogenic role of smooth muscle cells (SMCs) in STC and novel regulators of intestinal motility, BIN1 and ALDH1B1.
Jianbo Liu, Hao Zhang, Wenhao Qiao, Ran Liu, Jie Sun, Xiaopei Li, Qin Li, Dongbo Zhao, Dawei Chen, Jingxin Li, Shuxiao Dong   +10 more
wiley   +1 more source

Idiopathic inflammatory myopathies and the lung

European Respiratory Review, 2015
Idiopathic inflammatory myositis (IIM) is a group of rare connective tissue diseases (CTDs) characterised by muscular and extramuscular signs, in which lung involvement is a challenging issue.
Jean-Christophe Lega, Quitterie Reynaud, Alexandre Belot, Nicole Fabien, Isabelle Durieu, Vincent Cottin   +5 more
doaj   +1 more source

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source

Failure of daratumumab in the treatment of anti-synthetase syndrome: A case report

SAGE Open Medical Case Reports
Anti-synthetase syndrome is a subset of idiopathic inflammatory myopathies, for which refractory disease can be difficult to treat. Daratumumab, an anti-CD38 monoclonal antibody primarily used in hematologic malignancies, has recently shown promise in ...
Nam Nguyen, Valérie Leclair, Rayan Kaedbey, Marie Hudson   +3 more
doaj   +1 more source

Inflammasomes and idiopathic inflammatory myopathies

Frontiers in Immunology
Idiopathic inflammatory myopathies (IIM) are a group of systemic autoimmune diseases characterized by muscle weakness and elevated serum creatine kinase levels.
Rui Sun, Jiyan Chu, Jiyan Chu, Ping Li
doaj   +1 more source

Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies

Journal of Cachexia, Sarcopenia and Muscle, 2023
Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies ...
Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou   +10 more
doaj   +1 more source

Inflammatory myopathies--a clinicopathologic study. [PDF]

, 1997
In this study, clinical, histopathological and immunological profiles were analysed in ten patients with inflammatory myopathies. Polymyositis and dermatomyositis were more common than other forms of inflammatory myopathies.

core  

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source