A severe case of thrombocytopenia, anasarca, fever, renal insufficiency or reticulin fibrosis, and organomegaly syndrome with myocardial and skeletal muscle calcification despite hypocalcemia: a case report

Autor: Shogo Minomo, Yu Fujiwara, Shota Sakashita, Akito Takamura, Kaoru Nagata

Publikováno v: Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-7 (2021)

Abstract Background TAFRO (thrombocytopenia, anasarca, fever, renal insufficiency or reticulin fibrosis, and organomegaly) syndrome is a recently recognized disease with a variety of presentations of variable severity. In acute settings, this disease

Externí odkaz: https://doaj.org/article/5dcc3c9498de46329f0ab8aadd7844d2

A severe case of thrombocytopenia, anasarca, fever, renal insufficiency or reticulin fibrosis, and organomegaly syndrome with myocardial and skeletal muscle calcification despite hypocalcemia: a case report

Autor: Shogo Minomo, Yu Fujiwara, Akito Takamura, Shota Sakashita, Kaoru Nagata

Publikováno v: Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-7 (2021)

Background TAFRO (thrombocytopenia, anasarca, fever, renal insufficiency or reticulin fibrosis, and organomegaly) syndrome is a recently recognized disease with a variety of presentations of variable severity. In acute settings, this disease also inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffeceede50aa74621f05c1a3107ce6c3
https://pubmed.ncbi.nlm.nih.gov/33402219

Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis

Autor: Yoichiro Kamatani, Eiryo Kawakami, Yukiko Iwasaki, Kazuyoshi Ishigaki, Koichiro Ohmura, Takashi Kanda, Ryosuke Hiwa, Yuya Kondo, Hajime Sano, Keishi Fujio, Hisanori Umehara, Yasushi Kawaguchi, Ran Nakashima, Jiří Vencovský, Yukihide Momozawa, Jun Shimizu, Hector Chinoy, Akito Takamura, Tatsuya Atsumi, Tsuneyo Mimori, Atsushi Kawakami, Masatoshi Jinnin, Michiaki Kubo, Akio Mimori, Heřman Mann, Hiroto Tsuboi, Mariko Ogawa-Momohara, Yuta Kochi, Yoshiya Tanaka, Atsushi Takahashi, Tsutomu Takeuchi, Akari Suzuki, Janine A. Lamb, Kazuhiko Yamamoto, Hidenaga Kawasumi, Tetsuya Horita, Takayuki Sumida, Yuji Hosono, Keiko Myouzen, Robert G. Cooper, Yoshinao Muro, Hitoshi Kohsaka, Simon Rothwell, Toshihide Mimura, Manabu Fujimoto, Hiroshi Kajiyama, Shinichiro Tsunoda, Hirofumi Amano

Publikováno v: Chinoy, H, Rothwell, S, Lamb, J & et al 2018, ' Splicing variant of WDFY4 augments MDA5 signaling and the risk of clinically amyopathic dermatomyositis ', Annals of the rheumatic diseases . https://doi.org/10.1136/annrheumdis-2017-212149

ObjectivesIdiopathic 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bd91bdcf570065b24f41024ff89de6
https://doi.org/10.1136/annrheumdis-2017-212149

Splicing variant of

Autor: 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

Publikováno v: Annals of the rheumatic diseases. 77(4)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4d170a5cd7cd2f07dd777c769f86660b
https://pubmed.ncbi.nlm.nih.gov/29331962

Anti-EJ antibody positive interstitial lung disease with skin changes at the fingertips

Autor: Mari Kihara, Hitoshi Kohsaka, Mineto Ota, Akito Takamura

Publikováno v: Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology. 39(2)

Antisynthetase syndrome is characterized by the presence of anti-aminoacyl-tRNA synthetase antibodies and characteristic clinical features. We report an anti-EJ antibody-positive case presenting an ILD with slight hyperkeratotic skin changes on the f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be1654d37f103dc288679973d90e175
https://pubmed.ncbi.nlm.nih.gov/27212602