A5010512897- Inflammatory Myopathies and Dermatomyositis
- Autoimmune Neurological Disorders and Treatments
- Parkinson's Disease and Spinal Disorders
- Cytomegalovirus and herpesvirus research
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Genetics and Neurodevelopmental Disorders
- Prion Diseases and Protein Misfolding
- Nuclear Structure and Function
- Peripheral Neuropathies and Disorders
- Systemic Lupus Erythematosus Research
- Vasculitis and related conditions
- Eosinophilic Disorders and Syndromes
- RNA regulation and disease
- RNA Research and Splicing
- Liver Diseases and Immunity
- Alzheimer's disease research and treatments
- Neurogenetic and Muscular Disorders Research
Hokkaido University
2020-2025
Hakodate National Hospital
2021-2022
<title>Abstract</title> <bold>Background</bold> Anti-mGluR1 encephalitis is a form of autoimmune encephalitis, with limited reports globally and only two cases reported from Japan. There are uncertainties regarding the optimal immunosuppressive agents individual drug responses. Herein, we report case anti-mGluR1 Japan, notable for favorable outcome after an early rituximab initiation observed increase in cerebellar blood flow during disease stages. <bold>Case presentation</bold> The patient...
A 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 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 diagnosed inflammatory myopathy associated AMA. After treatment corticosteroids noninvasive...
POEMS syndrome is often associated with a poor prognosis. Elevated serum vascular endothelial growth factor (sVEGF) useful diagnostic marker high sensitivity and specificity. However, the relationship between sVEGF elevation polyneuropathy in remains controversial. We herein report case of without at first admission. 21 months after onset, patient tested positive for was diagnosed syndrome. Therefore, it important to repeatedly measure levels patients an atypical course when suspected, even...
Most cases of dementia with Lewy bodies (DLB) follow a chronic course. However, some rapidly progressive (RPD) are difficult to distinguish from other diseases. Herein, we report how differentiate DLB presenting RPD diseases and its pathological features, examples our own experience. A 70‐year‐old man psychiatric symptoms, including hallucinations delusions, was transferred hospital. We suspected Creutzfeldt–Jakob disease (CJD), but disease‐specific tests were all negative. The patient...
症例は42歳，男性．2度の冠動脈塞栓症の既往があり，筋疾患の精査目的に当科紹介となった．40歳頃から筋力低下を自覚し，肩甲周囲，上腕，下腿の筋萎縮を認めた．筋生検標本の免疫染色でエメリン蛋白の完全欠損を認め，遺伝子検査でemerin（EMD）遺伝子に病原性変異を確認しEmery-Dreifuss型筋ジストロフィー（Emery-Dreifuss muscular dystrophy; EDMD）と診断した．EDMDは発症早期の関節拘縮，肩甲上腕下腿型の筋萎縮，心機能障害を3徴とする．本症例では明らかな関節拘縮を認めなかったが，経過や臨床症状は症例により様々であり，早期診断することで心臓突然死を防ぎ得る．臨床診断に難渋した場合は当疾患も念頭に置き筋生検，遺伝子検査を行う必要がある．