☆ 4.5 Article

MELAS: A nationwide prospective cohort study of 96 patients in Japan

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2012)

期刊

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

卷 1820, 期 5, 页码 619-624

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ELSEVIER SCIENCE BV

DOI: 10.1016/j.bbagen.2011.03.015

关键词

Prevalence; MELAS; Cohort study; Natural course; Survival curve; Severity of disease

类别

Biochemistry & Molecular Biology Biophysics

资金

Ministry of Culture and Education in Japan [13670853, 16390308]
Evidence-based Medicine, Ministry of Health, Labor and Welfare in Japan [CCT-B-1803]
Academy of Finland, the Center for International Mobility in Finland
Heiwa Research Foundation in Japan
Grants-in-Aid for Scientific Research [13670853, 16390308] Funding Source: KAKEN

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摘要

Background: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) (OMIM 540000) is the most dominant subtype of mitochondrial myopathy. The aim of this study was to determine the prevalence, natural course, and severity of MELAS. Methods: A prospective cohort study of 96 Japanese patients with MELAS was followed between June 2003 and April 2008. Patients with MELAS were identified and enrolled based on questionnaires administered to neurologists in Japan. MELAS was defined using the Japanese diagnostic criteria for MELAS. Two follow-up questionnaires were administered to neurologists managing MELAS patients at an interval of 5 years. Results: A prevalence of at least 0.58 (95% confidential interval (CI), 0.54-0.62)/100,000 was calculated for mitochondrial myopathy, whereas the prevalence of MELAS was 0.18 (95%CI, 0.02-0.34)/100,000 in the total population. MELAS patients were divided into two sub-groups: juvenile form and adult form. Stroke-like episodes, seizure and headache were the most frequent symptoms seen in both forms of MELAS. Short stature was significantly more frequent in the juvenile form, whereas hearing loss, cortical blindness and diabetes mellitus were significantly more frequent in the adult form. According to the Japanese mitochondrial disease rating scale, MELAS patients showed rapidly increasing scores (mean +/- standard deviation, 12.8 +/- 8.7) within 5 years from onset of the disease. According to a Kaplan-Meier analysis, the juvenile form was associated with a higher risk of death than the adult form (hazard ratio, 3.29; 95%CI, 1.32-8.20; p = 0.0105). Conclusions and General Significance: We confirmed that MELAS shows a rapid degenerative progression within a 5-year interval and that this occurs in both the juvenile and the adult forms of MELAS and follows different natural courses. This article is part of a Special Issue entitled: Biochemistry of Mitochondria. (C) 2011 Elsevier B.V. All rights reserved.

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Incidence, Prevalence, Disease Course, and Treatment Strategy of Crohn's Disease Patients from the Veszprem Cohort, Western Hungary: A Population-based Inception Cohort Study Between 2007 and 2018

Lorant Gonczi, Laszlo Lakatos, Zsuzsanna Kurti, Petra Golovics, Tunde Pandur, Gyula David, Zsuzsanna Erdelyi, Istvan Szita, Peter L. Lakatos

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