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Source: Internal Medicine
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Total 120 results found since Jan 2013.
Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure
Intern Med. 2021 Nov 13. doi: 10.2169/internalmedicine.8314-21. Online ahead of print.ABSTRACTNemaline myopathy (NM) is a rare muscle disease with various clinical types. In some cases, NM can lead to type 2 respiratory failure and right heart failure. We herein report a patient with congenital NM with nebulin gene mutation who presented with acute right heart failure and type 2 respiratory failure due to respiratory muscle paralysis after upper respiratory tract infection, needing a permanent ventilator for assistance. However, the limb and trunk muscle strengths were within normal limits. This case showed that NM should ...
Source: Internal Medicine - November 15, 2021 Category: Internal Medicine Authors: Mizuki Ito Sayuri Shima Nagao Ryunosuke Shoko Nakano Konoka Esaka Akihiro Ueda Shingo Maeda Ryoma Moriya Masashi Kondo Kazuyoshi Imaizumi Seiya Noda Masahisa Katsuno Ichizo Nishino Hirohisa Watanabe Source Type: research
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin
Intern Med. 2021 Oct 19. doi: 10.2169/internalmedicine.7733-21. Online ahead of print.ABSTRACTHereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and is considered quite rare. Respiratory insufficiency can be the sole symptom in the disease course. We herein report the first Japanese HMERF patient with a p.P31732 L mutation in titin. The patient manifested respiratory failure and mild weakness of the neck flexor muscle at 69 years old and showed fatty replacement of the bilateral semitendinosus muscles on muscle imaging. Our case indicates that HMERF with a heterozygou...
Source: Internal Medicine - October 21, 2021 Category: Internal Medicine Authors: Yasuteru Sano Satoko Ota Mariko Oishi Masaya Honda Masatoshi Omoto Motoharu Kawai Mariko Okubo Ichizo Nishino Takashi Kanda Source Type: research
Inflammatory Myopathy Associated with Anti-mitochondrial Antibody Presenting Only with Respiratory Failure
Intern Med. 2021 Jun 5. doi: 10.2169/internalmedicine.7448-21. Online ahead of print.ABSTRACTA 56-year-old woman presenting with type II respiratory failure was transferred to our hospital. She did not exhibit muscle weakness or elevated serum myogenic enzymes, but needle electromyography revealed myogenic changes in the limb muscles, and her blood tests were positive for anti-mitochondrial antibodies (AMA). Muscle histopathological findings included immune-mediated necrotizing myopathy, so she was diagnosed with inflammatory myopathy associated with AMA. After treatment with corticosteroids and noninvasive positive pressu...
Source: Internal Medicine - June 7, 2021 Category: Internal Medicine Authors: Shintaro Fujii Kazuhiro Horiuchi Yuki Oshima Katsuki Eguchi Azusa Nagai Ikuko Iwata Masaaki Matsushima Ichiro Yabe Source Type: research
An Autopsy Case of Antibody-negative Immune-mediated Necrotizing Myopathy with Severe Cardiac Involvement
Intern Med. 2021 Apr 12. doi: 10.2169/internalmedicine.6355-20. Online ahead of print.ABSTRACTA 41-year-old man was admitted with a chief complaint of dyspnea. Echocardiography showed diffuse severe hypokinesis in the left ventricle. Although his heart failure improved, high creatine kinase levels persisted. A muscle biopsy of the biceps brachii showed necrotic and regenerating fibers along with positive findings for major histocompatibility complex class I and membrane attack complex. He was diagnosed with antibody-negative immune-mediated necrotizing myopathy (IMNM). Steroid therapy was started, but he died due to ventri...
Source: Internal Medicine - April 12, 2021 Category: Internal Medicine Authors: Takumi Tamura Keisuke Miyajima Kazuki Watanabe Kazuki Ito Fumihiko Kin Ayako Okazaki Yasuyo Takashima Tomoyuki Watanabe Yoshitaka Kawaguchi Yasushi Wakabayashi Hiroaki Miyajima Yuichiro Maekawa Source Type: research
