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https://www.readbyqxmd.com/read/29331962/splicing-variant-of-wdfy4-augments-mda5-signalling-and-the-risk-of-clinically-amyopathic-dermatomyositis
#1
Yuta Kochi, Yoichiro Kamatani, Yuya Kondo, Akari Suzuki, Eiryo Kawakami, Ryosuke Hiwa, Yukihide Momozawa, Manabu Fujimoto, Masatoshi Jinnin, Yoshiya Tanaka, Takashi Kanda, Robert G Cooper, Hector Chinoy, Simon Rothwell, Janine A Lamb, Jiří Vencovský, Heřman Mann, Koichiro Ohmura, Keiko Myouzen, Kazuyoshi Ishigaki, Ran Nakashima, Yuji Hosono, Hiroto Tsuboi, Hidenaga Kawasumi, Yukiko Iwasaki, Hiroshi Kajiyama, Tetsuya Horita, Mariko Ogawa-Momohara, Akito Takamura, Shinichiro Tsunoda, Jun Shimizu, Keishi Fujio, Hirofumi Amano, Akio Mimori, Atsushi Kawakami, Hisanori Umehara, Tsutomu Takeuchi, Hajime Sano, Yoshinao Muro, Tatsuya Atsumi, Toshihide Mimura, Yasushi Kawaguchi, Tsuneyo Mimori, Atsushi Takahashi, Michiaki Kubo, Hitoshi Kohsaka, Takayuki Sumida, Kazuhiko Yamamoto
OBJECTIVES: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases in which both genetic and environmental factors play important roles. To identify genetic factors of IIM including polymyositis, dermatomyositis (DM) and clinically amyopathic DM (CADM), we performed the first genome-wide association study for IIM in an Asian population. METHODS: We genotyped and tested 496 819 single nucleotide polymorphism for association using 576 patients with IIM and 6270 control subjects...
January 13, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29301801/clinically-amyopathic-dermatomyositis-associated-with-anti-mda5-antibody
#2
Konstantinos Parperis, Amirali Kiyani
Clinically amyopathic dermatomyositis (CADM) is a rare entity that presents with cutaneous manifestations of classic dermatomyositis but without muscle weakness or abnormal muscle enzymes. It is more common in young white and Asian females. A subset of patients with CADM has a specific antibody known as anti-MDA5. These patients have a more aggressive course with distinct cutaneous features, pulmonary involvement and early death. Here, we present the case of a 64-year-old Caucasian male with no significant medical history who was admitted with marked weight loss and a painful rash for 6 months...
January 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29289262/clinical-heterogeneity-of-interstitial-lung-disease-in-polymyositis-and-dermatomyositis-patients-with-or-without-specific-autoantibodies
#3
Fang Chen, Shanshan Li, Tao Wang, Jingli Shi, Guochun Wang
BACKGROUND: The aim of this study was to compare the heterogeneity of interstitial lung disease (ILD) in patients with polymyositis and dermatomyositis (PM/DM) according to serological type. METHODS: A total of 182 patients with PM/DM-ILD were observed retrospectively. Antiaminoacyl-tRNA synthetase (ARS) and antimelanoma differentiation-associated gene5 (MDA5) antibodies were screened using immunoblotting approach. The patients with ILD were divided into 3 groups: MDA5 (with anti-MDA5 antibody), ARS (with anti-ARS antibody) and MSN (without anti-MDA5 or anti-ARS antibody) group...
January 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29287518/anti-mda5-positive-dermatomyositis-complicated-with-rapidly-progressive-interstitial-lung-disease-a-case-report
#4
Eva De Backer, Félix Gremonprez, Guy Brusselle, Pieter Depuydt, Jo Van Dorpe, Carole Van Haverbeke, Pieter C Goeminne, Eric Derom
CASE PRESENTATION:  We present a case of a 55-year-old Caucasian male with manifestations of dermatomyositis complicated with rapidly progressive interstitial lung disease (RP-ILD). Diagnosis of anti-MDA5 positive dermatomyositis was made. DISCUSSION:  Myositis specific antibodies (MSA) can be used for diagnosis and predicting prognosis in patients with polymyositis and dermatomyositis. Anti-MDA5 positive dermatomyositis should be considered in patients presenting with dermatomyositis and a disease course resembling antisynthetase syndrome in the absence of antisynthetase autoantibodies, especially if a remarkably high ferritin is noted...
December 29, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29229575/anti-melanoma-differentiation-associated-gene-5-mda5-dermatomyositis-a-concise-review-with-an-emphasis-on-distinctive-clinical-features
#5
REVIEW
Drew Jb Kurtzman, Ruth Ann Vleugels
Melanoma differentiation-associated gene 5 (MDA5) is a recently described autoantigen target in a subset of patients with dermatomyositis (DM). Anti-MDA5 DM is characterized by a unique mucocutaneous and systemic phenotype that includes cutaneous and oral ulceration, painful palmar papules, alopecia, panniculitis, arthritis, a lower incidence of myositis, and, importantly, an elevated risk of interstitial lung disease, with a potentially fatal course. Because the clinical features may differ substantially from those typically observed in cutaneous DM, the diagnosis is often overlooked, which may negatively affect patient outcomes...
December 8, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29225988/effective-administration-of-rituximab-in-anti-mda5-antibody-positive-dermatomyositis-with-rapidly-progressive-interstitial-lung-disease-and-refractory-cutaneous-involvement-a-case-report-and-literature-review
#6
Yuka Ogawa, Dai Kishida, Yasuhiro Shimojima, Koichi Hayashi, Yoshiki Sekijima
We describe the case of a 48-year-old man with dermatomyositis (DM) who demonstrated rapidly progressive interstitial lung disease (RP-ILD) and refractory cutaneous involvement together with high levels of anti-melanoma differentiation-associated gene 5 antibody (anti-MDA5-Ab). Even after combination immunosuppressive therapy including a corticosteroid, cyclosporine A, and intravenous cyclophosphamide, his respiratory insufficiency and cutaneous involvement progressively worsened. However, the administration of rituximab (RTX) resulted in clinical remission as well as a visible reduction in anti-MDA5-Ab levels, suggesting that RTX could be a useful remedy in cases refractory to conventional immunosuppressive agents, especially those of RP-ILD related to anti-MDA5-Ab-positive DM...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29162227/anti-mda5-positive-dermatomyositis-a-description-of-the-cutaneous-and-systemic-manifestations-in-2-cases
#7
N Barrientos, J J Sicilia, M J Moreno de Vega, J D Dominguez
No abstract text is available yet for this article.
November 18, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29106035/genetic-association-of-hla-drb1-multiple-polymorphisms-with-dermatomyositis-in-chinese-population
#8
Lin Jinming, Zhang Yongbiao, Qinglin Peng, Hanbo Yang, Jingli Shi, Mingliang Gu, Wenming Zhao, Guochun Wang
Genetic variation in human leukocyte antigen (HLA) plays an important role in the pathogenesis of dermatomyositis (DM). The aim of this study was to investigate the association of HLA class II with DM in China. 224 DM patients and 300 healthy controls were randomly enrolled at China-Japan Friendship Hospital. High resolution typing of HLA-DRB1 alleles was performed by sequencing based typing (SBT). The HLA-DQA1 and HLA-DQB1 alleles were determined by PCR sequence-specific primers (SSP). The frequencies of HLA-DRB1*09:01 (28...
November 6, 2017: HLA
https://www.readbyqxmd.com/read/29100298/assessment-of-anti-mda5-antibody-as-a-diagnostic-biomarker-in-patients-with-dermatomyositis-associated-interstitial-lung-disease-or-rapidly-progressive-interstitial-lung-disease
#9
Liubing Li, Qian Wang, Xiaoting Wen, Chenxi Liu, Chanyuan Wu, Funing Yang, Xiaofeng Zeng, Yongzhe Li
Anti-melanoma differentiation-associated protein 5 (MDA5) antibody have been found in dermatomyositis (DM)-associated interstitial lung disease (DM-ILD) and DM-associated rapidly progressive ILD (DM-RPILD). Due to the conflicting results regarding the association between anti-MDA5 antibody and DM-ILD or DM-RPILD and the diagnostic value of this antibody for DM-ILD and DM-RPILD, we performed this meta-analysis. A systematic search was performed to identify studies published to January 14, 2017. Sixteen publications with 491 DM with ILD versus 605 DM without ILD, as well as eighteen publications with 186 DM with RPILD and 790 DM without RPILD were included...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29093381/the-serum-ferritin-level-is-associated-with-the-treatment-responsivity-for-rapidly-progressive-interstitial-lung-disease-with-amyopathic-dermatomyositis-irrespective-of-the-anti-mda5-antibody-level-a-case-report
#10
Takeshi Osawa, Kozo Morimoto, Yuka Sasaki, Shuichi Matsuda, Kazunari Yamana, Ryozo Yano, Takashi Uchiyama, Hajime Goto
We herein report he case of a 61-year-old woman with rapidly progressive interstitial lung disease caused by clinically amyopathic dermatomyositis. Both the serum ferritin and anti-MDA5 antibody levels were elevated at the time of admission. Despite intensive treatment with corticosteroids, immunosuppressants, immunoglobulins and polymyxin B direct hemoperfusion, the patient died 75 days after symptom onset. Over the course of treatment, the anti-MDA5 antibody level continually decreased, while the serum ferritin level increased, suggesting that sequential measurements of the serum ferritin level might be useful for evaluating the treatment responsivity, irrespective of the anti-MDA5 antibody level...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29065773/describing-and-expanding-the-clinical-phenotype-of-anti-mda5-associated-rapidly-progressive-interstitial-lung-disease-case-series-of-nine-canadian-patients-and-literature-review
#11
S Hoa, Y Troyanov, M J Fritzler, I N Targoff, S Chartrand, A M Mansour, E Rich, H Boudabbouz, J Bourré-Tessier, M Albert, J R Goulet, M Landry, J L Senécal
OBJECTIVE: To describe and expand the phenotype of anti-MDA5-associated rapidly progressive interstitial lung disease (MDA5-RPILD) in Canadian patients. METHOD: All proven cases of MDA5-RPILD hospitalized in the University of Montreal's affiliated centres from 2004 to 2015 were selected for inclusion. RESULTS: Of nine consecutive patients, RPILD was the presenting manifestation in seven, whereas two patients developed RPILD 2 years after the onset of arthritis and of chronic interstitial lung disease...
October 25, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/29043891/rapidly-progressive-interstitial-lung-disease-in-a-patient-with-anti-mda5-positive-amyopathic-dermatomyositis
#12
A Nandy, S Gaïni, P Sore
No abstract text is available yet for this article.
October 18, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28983955/associations-between-anti-melanoma-differentiation-associated-gene-5-antibody-and-demographics-clinical-characteristics-and-laboratory-results-of-patients-with-dermatomyositis-a-systematic-meta-analysis
#13
Ju Li, Yan Liu, Yongsheng Li, Fang Li, Kai Wang, Wenyou Pan, Deqian Meng
Anti-melanoma differentiation-associated gene 5 (MDA5) antibody is a specific biomarker in patients with dermatomyositis (DM). Results from several studies that examined the relationship between anti-MDA5 antibody and the demographics, clinical characteristics and laboratory results of DM patients have been conflicting. The purpose of this study was to identify the relationship, if any, of anti-MDA5 antibody with demographics, clinical characteristics and laboratory results of DM patients. PubMed, Web of Science, Embase and the Cochrane Library databases were searched for studies without language restrictions conducted before 16 March 2017...
October 6, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28946702/astragalus-polysaccharide-protect-against-cadmium-induced-cytotoxicity-through-the-mda5-nf-%C3%AE%C2%BAb-pathway-in-chicken-peripheral-blood-lymphocytes
#14
Wanqiu Xie, Ming Ge, Guangxing Li, Linan Zhang, Zequn Tang, Ruyue Li, Ruili Zhang
Cadmium (Cd) is a known environmental pollutant that is associated with inflammation, oxidative stress, and cell apoptosis. Astragalus polysaccharide (APS) is a major component of Astragalus membranaceus, a vital qi-reinforcing herb medicine with favorable immuneregulation properties. To study the effect of APS on the inhibition of the cadmium-induced injury of peripheral blood lymphocytes (PBLs) in chickens through the MDA5/NF-κB signaling pathway, PLBs acquired from 15-day-old chickens were divided into control group, Cd group, APS + Cd group, anti-MDA5 mAb + Cd group, BAY 11-7082 (a nuclear factor kappa-light chain-enhancer of activated B cells [NF-κB] inhibitor) +Cd group, APS group, anti-MDA5 mAb group, and BAY 11-7082 group...
September 25, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28842784/neutrophil-extracellular-traps-may-contribute-to-interstitial-lung-disease-associated-with-anti-mda5-autoantibody-positive-dermatomyositis
#15
Yun Peng, Suhan Zhang, Yi Zhao, Yi Liu, Bing Yan
In dermatomyositis (DM), anti-melanoma differentiation-associated gene 5 (MDA5) autoantibody (autoAb) marks a subtype with low grade or absent muscle inflammation but frequent and rapidly progressive interstitial lung disease (ILD). The pathogenesis of ILD remains poorly unknown. The aim of the study is to explore whether neutrophil extracellular traps (NETs) are involved in the development of ILD in DM patients with anti-MDA5 autoAb. Patients with clinically amyopathic dermatomyositis (CADM, n = 20), classic dermatomyositis (cDM, n = 30), polymyositis (PM, n = 20), and healthy controls (HC, n = 20) were enrolled...
August 25, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28795873/anti-mda5-positive-dermatomyositis-an-emerging-entity-with-a-variable-clinical-presentation
#16
V Ortiz-Santamaria, A Babot, C Ferrer
No abstract text is available yet for this article.
August 10, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28722667/assessment-of-anti-mda5-antibody-as-a-diagnostic-biomarker-in-patients-with-dermatomyositis-associated-interstitial-lung-disease-or-rapidly-progressive-interstitial-lung-disease
#17
Liubing Li, Qian Wang, Xiaoting Wen, Chenxi Liu, Chanyuan Wu, Funing Yang, Xiaofeng Zeng, Yongzhe Li
Anti-melanoma differentiation-associated protein 5 (MDA5) antibody have been found in dermatomyositis (DM)-associated interstitial lung disease (DM-ILD) and DM-associated rapidly progressive ILD (DM-RPILD). Due to the conflicting results regarding the association between anti-MDA5 antibody and DM-ILD or DM-RPILD and the diagnostic value of this antibody for DM-ILD and DM-RPILD, we performed this meta-analysis. A systematic search was performed to identify studies published to January 14, 2017. Sixteen publications with 491 DM with ILD versus 605 DM without ILD, as well as eighteen publications with 186 DM with RPILD and 790 DM without RPILD were included...
July 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28711882/hla-drb1-alleles-as-genetic-risk-factors-for-the-development-of-anti-mda5-antibodies-in-patients-with-dermatomyositis
#18
Zhiyong Chen, Yan Wang, Masataka Kuwana, Xue Xu, Wei Hu, Xuebing Feng, Hong Wang, Akinori Kimura, Lingyun Sun
OBJECTIVE: Patients with polymyositis/dermatomyositis (PM/DM) who express anti-melanoma differentiation associated protein 5 (anti-MDA5) antibodies frequently present with interstitial lung disease (ILD). The aim of this study was to investigate the association of HLA-DRB1 with anti-MDA5 expression in PM/DM. METHODS: The frequency of DRB1 alleles was compared among 70 patients with PM, 104 patients with DM, and 400 healthy controls in a Han Chinese population. RESULTS: Frequencies of DRB1*04:01 [17...
July 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28668260/-amyopathic-dermatomyositis-dm-with-anti-mda5-antibodies-associated-with-bullous-pemphigoid-sj%C3%A3-gren-syndrome-and-gastric-malt-lymphoma
#19
B Garcia, F Dabouz, L Pascal, M Gillard, P Modiano
BACKGROUND: The inflammatory myopathies are a heterogeneous group of muscle diseases and comprise polymyositis, dermatomyositis (DM), myopathies associated with cancers, necrotising myositis and inclusion body myositis. DM occasionally exhibits few or no muscular signs: i.e. hypomyopathic/amyopathic DM. Anti-MDA5 dermatomyositis (DM) is a rare form of dermatomyositis that is frequently amyopathic; the prognosis is linked mainly to pulmonary involvement. PATIENTS AND METHODS: A 69-year-old woman treated for mucosa-associated lymphoid tissue (MALT) gastric lymphoma was referred for a bullous eruption...
October 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28566605/dermatomyositis-with-rapidly-progressive-interstitial-lung-disease-treated-with-rituximab-a-report-of-3-cases-in-japan
#20
Kenichiro Tokunaga, Noboru Hagino
We performed a retrospective chart review of three patients with hypomyopathic dermatomyositis and rapidly progressive interstitial lung disease. The patients were Japanese women of 71, 69, and 65 years of age. Two patients were anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody-positive and 1 was anti-aminoacyl-tRNA synthetase (anti-ARS) antibody-positive. Their respiratory statuses deteriorated despite the administration of glucocorticoid, calcineurin inhibitors, and intravenous cyclophosphamide therapy...
2017: Internal Medicine
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