Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation [PDF]
Molecular Genetics and Metabolism ReportsCarbamoyl phosphate synthetase 1 (CPS1) deficiency (OMIM#237300) is a rare inherited disorder due to complete or partial lack of the CPS1 enzyme. Polymyositis is a relatively rare systemic inflammatory autoimmune disease.
Kazuhiro Yokota +8 more
doaj +2 more sources
The Prevalence of Various Autoimmune Comorbidities in Patients with Inflammatory Bowel Disease [PDF]
EpidemiologiaIntroduction: Patients with inflammatory bowel disease (IBD) are at increased risk of developing other autoimmune disorders due to possible shared genetic, environmental, and immunological mechanisms.
Bipneet Singh +6 more
doaj +2 more sources
P096 A challenging case of calcinosis and weakness: polymyositis/scleroderma overlap syndrome [PDF]
Rheumatol Adv PractAdam Taylor +2 more
europepmc +3 more sources
BMC Cardiovascular Disorders, 2021 Background Anti-Ku is a rare antibody which can be positive in some rheumatic diseases and it might be related to cardiac involvement. Polymyositis is an inflammatory myopathy, and its cardiac involvement seldom presents as myopericarditis and anti-Ku ...
Weiping Tan +4 more
doaj +1 more source
Scientific Reports, 2023 Dermatomyositis and polymyositis are rare, idiopathic inflammatory myopathies. Interstitial lung disease is one of the most common and potentially severe extra-muscular manifestations of dermatomyositis and polymyositis and is strongly linked to poor ...
Qingqing Hu +5 more
doaj +1 more source
Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility. [PDF]
PLoS ONE, 2014 BACKGROUND:Accumulating evidence has shown that several non-HLA genes are involved in the susceptibility to polymyositis/dermatomyositis. This study aimed to investigate the involvement of C8orf13-BLK, one of the strongest candidate genes for autoimmune ...
Tomoko Sugiura +7 more
doaj +1 more source
Case of Polymyositis Associated with Celiac Disease: A Case Report
Pakistan Armed Forces Medical Journal, 2023 Polymyositis is an important subtype of idiopathic inflammatory myopathies characterized by muscle inflammation andweakness, often associated with other systemic diseases and malignancies.
Abdul Rehman Azeem +4 more
doaj +1 more source
Polymyositis-Like Myopathy With Anti-PL-12 Antibody Positivity and Coexisting Antiphospholipid Syndrome: Diagnostic and Management Challenges in the Absence of Systemic Features. [PDF]
CureusParga AD, Raheem I.
europepmc +3 more sources
Rheumatology, 2022 Introduction Muscle enzymes are an indicator of ongoing muscle damage and disease activity in patients with idiopathic inflammatory myopathy. Although platelet-related parameters have been shown to be useful as markers of disease activity in autoimmune ...
Gokhan Sargin +3 more
doaj +1 more source
BMC Medical Genomics, 2022 Background Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive involvement of ...
Cecilia Contreras-Cubas +7 more
doaj +1 more source