Characteristics of Risk-Factor Profiles Associated with Stroke in Patients with Myotonic Dystrophy Type 1.

• Material Type: 博士論文
• Title: Characteristics of Risk-Factor Profiles Associated with Stroke in Patients with Myotonic Dystrophy Type 1.
• Author/Editor: Sugie, Miho; Sugie, Kazuma; Eura, Nobuyuki; Iwasa, Naoki; Shiota, Tomo; Nanaura, Hitoki; Izumi, Tesseki; Ueno, Satoshi
• Author Heading: Sugie, Miho; Sugie, Kazuma; Eura, Nobuyuki; Iwasa, Naoki; Shiota, Tomo; Nanaura, Hitoki; Izumi, Tesseki; Ueno, Satoshi
• Publication, Distribution, etc.: iMed Pub.
• Publication Date: 2016
• Publication Date (W3CDTF): 2016
• Alternative Title: 筋強直性ジストロフィー1型における脳卒中に関する危険因子の臨床的特徴
• Periodical title: Journal of Rare Disorders : Diagnosis & Therapy
• No. or year of volume/issue: 2 4
• Volume: 2
• Issue: 4
• Pages: Article No.19-
• ISSN (Periodical Title): ISSN : 2380-7245
• Degree grantor/type: 奈良県立医科大学
• Date Granted: 2017-03-15
• Dissertation Number: 乙第1392号
• Degree Type: 博士（医学）
• Text Language Code: eng
• Subject Heading: Myotonic dystrophy; Muscular dystrophy; Myopathy; Stroke; Arrhythmias; Atrial fibrillation; Dyslipidemia
• Target Audience: 一般
• Note (General): type:Thesis; Objective: Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant disorder with highly variable phenotypic expression. Some patients have diabetes mellitus, dyslipidemia, and/or arrhythmias, which are risk factors for stroke. However, the mechanism of stroke is poorly understood in patients with DM1. We studied the characteristics of risk-factor profiles for stroke associated with DM1. Patients and methods: We studied 77 patients with DM1 (45 men and 32 women) on the basis of the patients’ clinical histories and laboratory and genetic examination results. Results: The analysis showed that 26 patients (34%) had dyslipidemia, and 16 (21%) had diabetes. Arrhythmias were diagnosed in 46 patients (61%), including 11 (14%) with atrial fibrillation and 9 (12%) with conduction defects. Echocardiographic abnormalities were found in 28 patients (37%). Eight patients (11%) met the criteria for metabolic syndrome. We identified 2 patients (2.6%) with ischemic stroke caused by cardiogenic embolism among 77 patients with DM1. One had paroxysmal atrial fibrillation and sick sinus syndrome, and the other had cardiac dysfunction with an ejection-fraction of 35% and dyslipidemia. Both patients had highly expanded numbers of CTG repeats (1000 and 1500). Conclusion: To our knowledge, this is the first study to report a comprehensive analysis of risk-factor profiles for stroke in patients with DM1. Stroke is a relatively rare, but severe complication of DM1. Our results indicate that it is important to manage risk factors for stroke, especially cardiac involvement and arrhythmias.; 博士（医学）・乙第1392号・平成29年3月15日; Copyright: © 2016 Sugie M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.; identifier:Journal of Rare Disorders : Diagnosis & Therapy Vol.2 No.4 Article No.19 (2016); identifier:23807245; identifier:http://ginmu.naramed-u.ac.jp/dspace/handle/10564/3325; identifier:Journal of Rare Disorders : Diagnosis & Therapy, 2(4): Article No.19
• Source: fulltext; http://ginmu.naramed-u.ac.jp/dspace/bitstream/10564/3325/1/01_%e4%b9%991392%e6%9c%ac%e6%96%87%e3%81%ae%e8%a6%81%e6%97%a8.pdf; http://ginmu.naramed-u.ac.jp/dspace/bitstream/10564/3325/2/02_%e4%b9%991392%e5%af%a9%e6%9f%bb%e8%a6%81%e6%97%a8.pdf; http://ginmu.naramed-u.ac.jp/dspace/bitstream/10564/3325/3/03_%e4%b9%991392%e6%9c%ac%e6%96%87.pdf
• Access Restrictions: インターネット公開
• Related Material (DOI): 10.21767/2380-7245.100048
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 奈良県立医科大学 : 奈良県立医科大学機関リポジトリ GINMU