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이형접합 COL6A1 돌연변이에 의한 Bethlem 근육병가족
박영은,손환준,이창훈,신진홍,김대성 대한신경과학회 2018 대한신경과학회지 Vol.36 No.3
Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype, and limb-girdle muscular dystrophy. These patients present with joint hyperextensibility and/or contractures as well as skin changes and muscle weakness, and so clinicians need to notice those extramuscular symptoms in order to achieve a correct diagnosis. We describe the clinical, pathological, and radiological features in a family with Bethlem myopathy caused by a COL6A1 mutation.
폐쇄수면무호흡에서 수면시간의 과소 평가와 관련 요인: 수면다원검사 결과를 이용한 후향 연구
황경진,이진산,손환준,김경혜,이명준,김지영 대한신경과학회 2019 대한신경과학회지 Vol.37 No.2
Background: The perception of sleep time in obstructive sleep apnea (OSA) is not well understood, some studies have reported that subjects with OSA have abnormal sleep perception. We hypothesized that the severity of OSA would affect the sleep perception of patients with OSA and investigated the associated factors that affect the sleep perception in OSA. Methods: Four hundred and sixty eight subjects with OSA were included in present study. Subjects with OSA were divided, depending upon their sleep perception. The first group included individuals who underestimated their time spent sleeping, the second group included those who did not underestimate their sleep time. The underestimation of sleep time is defined as the perceived total sleep time being less than 80% of that measured in polysomnography (PSG). All participants were analyzed their demographics, PSG parameter and questionnaires such as Beck Depression Inventory, Epworth Sleepiness Scale. Results: Of 468 participants, 179 (38.2%) subjects were included in the group that underestimating sleep. Gender (female, odds ratio [OR]=2.01, 95% confidence interval [CI]=1.25-3.22), depression (OR=1.75, 95% CI=1.03-2.97) and proportion of slow wave sleep (OR=0.98, 95% CI=0.96-0.99) were related to the underestimation of sleep. Conclusions: The underestimation of sleep in OSA is not directly related to OSA severity. Gender, psychiatric disorder, and sleep architecture are associated with the underestimating sleep in OSA.