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Total 115 results found since Jan 2013.
Hypoglycin A in Acer genus plants
Toxicon. 2023 Aug 29:107271. doi: 10.1016/j.toxicon.2023.107271. Online ahead of print.ABSTRACTHypoglycin A (HGA) is an amino acid occuring in the Sapindaceae family. Ingestion of certain Acer genus plants belonging to this family has been connected with atypical myopathy (AM) or seasonal pasture myopathy (SPM). To date, all cases of AM/SPM have been associated with sycamore (Acer pseudoplatanus) and boxelder maple (Acer negundo). The aim of this work was to determine and compare HGA in sycamore, boxelder and silver maple (Acer saccharinum), the trees known for HGA content, whose occurence is quite common in the Czech Repu...
Source: Toxicon - August 31, 2023 Category: Toxicology Authors: Tereza Novotn á Petr Jahn Eva Šamonilová Michaela Kabe šová Sabina Posp íšilová Petr Mar šálek Source Type: research
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patient...
Source: Orphanet Journal of Rare Diseases - August 11, 2023 Category: Internal Medicine Authors: Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Tags: Research Source Type: research
Anti-Ku antibody-positive systemic sclerosis and idiopathic inflammatory myopathies overlap syndrome in children: a report of two cases and a review of the literature
AbstractThe occurrence of anti-Ku antibody-positive idiopathic inflammatory myopathy (IIM) in pediatric patients is rare, and therefore, the clinical phenotypes of this disease in such patients remain obscure. We herein report two cases of Japanese female pediatric patients with anti-Ku antibody-positive IIM. One case was unique in that it was complicated by pericardial effusion. Another patient had severe and refractory myositis with immune-mediated necrotizing myopathy. In addition, we reviewed literatures involving a total of 11 pediatric patients with anti-Ku antibody-positive IIM. The median age of the patients was 11...
Source: Clinical Rheumatology - July 2, 2023 Category: Rheumatology Source Type: research
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation
Intern Med. 2023 Feb 15. doi: 10.2169/internalmedicine.0992-22. Online ahead of print.ABSTRACTDesminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed weakness in the soft palate and extremities. The myocardial tissue dissected during implantation of the ventricular-assiste...
Source: Internal Medicine - February 15, 2023 Category: Internal Medicine Authors: Naoki Takegami Akihiko Mitsutake Tatsuo Mano Yukako Shintani-Domoto Atsushi Unuma Nanaka Yamaguchi-Takegami Hiroyuki Ishiura Kaori Sakuishi Masahiko Ando Haruo Yamauchi Minoru Ono Shinichi Morishita Jun Mitsui Jun Shimizu Shoji Tsuji Tatsushi Toda Source Type: research
A young female case of asymptomatic immune-mediated necrotizing myopathy: a potential diagnostic option of antibody testing for rhabdomyolysis.
The anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody targets the enzyme HMGCR, which converts 3-hydroxy-3-methylglutaryl-coenzyme A to mevalonic acid in the cholesterol synthesis pathway [1], and is found in patients with a specific type of myopathy [2]. Anti-HMGCR immune-mediated necrotizing myopathy (IMNM) was also known as statin-induced myopathy, but a fairly recent report from Japan indicated that a statin history was shared mainly among elderly patients whereas relatively young patients did not have a history of statin use [4].
Source: Neuromuscular Disorders - December 24, 2022 Category: Neurology Authors: Ryo Sasaki, Taijun Yunoki, Yumiko Nakano, Yusuke Fukui, Mami Takemoto, Ryuta Morihara, Eri Katsuyama, Ichizo Nishino, Toru Yamashita Tags: Case report Source Type: research
Actual Telemedicine Needs of Japanese Patients with Neurological Disorders in the COVID-19 Pandemic
Conclusion We can contribute to the management of the COVID-19 pandemic and the medical economy by promoting telemedicine, especially for young patients with headaches or epilepsy.PMID:36418105 | DOI:10.2169/internalmedicine.9702-22
Source: Internal Medicine - November 23, 2022 Category: Internal Medicine Authors: Ryo Sasaki Taijun Yunoki Yumiko Nakano Yusuke Fukui Mami Takemoto Ryuta Morihara Koji Abe Toru Yamashita Source Type: research
