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Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing
Seong Don Seo(서승돈),Hyung Jun Park(박형준),Hyun Seok Song(송현석),Hye Jin Kim(김혜진),Jin-Mo Park(박진모),Young Bin Hong(홍영빈),Ki Wha Chung(정기화),Byung-Ok Choi(최병옥) 한국생명과학회 2014 생명과학회지 Vol.24 No.3
Rimed vacuole을 가진 원위 근육병(distal myopathy with rimmed vacuoles, DMRV)은 제2형 유전성 봉입체 근육병으로도 불리며 초기 성인기에 발병하여 원위부의 근력약화를 보이는 임상양상과 rimmed vacuole의 근육병리소견을 특징으로 하는 상염색체 열성의 근육병이다. 이러한 DMRV의 원인은 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) 유전자의 돌연변이임이 밝혀져 있다. 저자들은 원위부 근력약화를 호소 하는 환자에서 전체 엑솜 염기서열분석을 이용하여 GNE 유전자의 복합 이형접합성 돌연변이(p.Asp176Val 및 p.Val572Leu)를 확인하여 DMRV를 진단할 수 있었다. 본 연구는 근육병의 정확한 분자진단에 있어서 전체 엑솜 염기서열분석의 유용성을 보여주었기에 이를 보고하는 바이다. Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy 2 is an autosomal recessive muscular disorder characterized by early adult-onset weakness of distal muscles and rimmed vacuoles in muscle biopsy. Mutations in the UDP-N-acetylglucosamine 2-epimerase/N-ace-tylmannosamine kinase (GNE) gene are associated with the development of DMRV. In this study, whole exome sequencing (WES) revealed compound heterozygous GNE mutations of p.Asp176Val and p.Val572Leu in a patient with distal limb weakness. Three hundred healthy controls did not show these mutations. All other variants found in distal myopathy-relevant genes were polymorphic. These findings confirmed that the patient had DMRV. This work underscores the usefulness of WES in improving the molecular diagnosis of myopathy.
늑막액에서 Cholesterol 측정의 진단적 의의에 관한 연구
이원돈(Won Don Lee),김옥란(Ok Ran Kim),이재용(Jae Young Lee),성천모(Chun Mo Sung),배혜상(Hae Sang Bae),서승천(Seung Cheon Seo),최병휘(Byung Hue Choi),허성호(Sung Ho Hue) 대한내과학회 1989 대한내과학회지 Vol.36 No.1
N/A The cholesterol of pleural fluids was measured in 30 patients various diseases with pleural effusion to investigate the utility of differential diagnosis of exudates from transudates. Six cases were pleural transudates and 24 cases were pleural exudates as by classified predefined criteria. The results were as follows: 1) Mean protein level in group 1 (transudates) was l.9±0.8 g/dl and 4.8±0.9 g/dl in group 2 (exudates). Mean pleural fluid to serum ratio in group 1 was 0.30±0.11 and 0.80±0.48 in group 2. 2) Mean LDH level was 40X29 IU in group 1 and 325+271 IU in group 2. Mean pleural fluid to serum ratio was 0.20±0.11 in group 1 and 2.01±1.90 in group 2. 3) Mean cholesterol level was 37±14 mg/dl in group 1 and 97±42 mg/dl in group 2. Mean pleural fluid to serum ratio was 0.18±0.06 in group 1 and 0.71±0.32 in group 2. 4) A protein level of 3.0 g/dl, LDH level of 200 IU, cholesterol level of 60 mg/dl and their pleural fluid to serum ratios of 0.5, 0.6 and 0.3 respectively were used as dividing lines separating transudates from exudates, and 0% was misclassified in group 1. Misclassified effusions in group 2 for each single parameter were: protein 0%, protein ratio 4%, LDH 29%, LDH ratio 20%, cholesterol 20%, cholesterol ratio 0%, and Light criteria 4%. We found the use of cholesterol level to be superior to the measurement of LDH level and inferior to protein level. The ratio of pleural fluid to serum cholesterol markedly improved the result. On the basis of the above results, it is suggested that pleural fluid cholesterol is a useful index in differentiating exudative from transudative pleural effusions.
서울시 청소원에서의 HBsAg 및 anti-HBs 의 발현빈도
이원돈,한성욱,허신채,김옥란,서승천,배혜상,엄석준 대한내과학회 1986 대한내과학회지 Vol.31 No.3
Hepatitis B virus is known to be transmitted through parenteral and nonparenteral route and the occurrence of HB virus markers increased in the poor sanitary condition. We tested 7,935 public sweepers for hepatitis B surface antigen(HBsAg) and hepatitis B surface antibody(anti-HBs) with RPHA method. The results were as follows: 1) The positive rate of HBsAg was 6. 41%, which was not higher than that of other workers. 2) The positive rate of anti-HBs was 16.04%. 3) The occurrence rate of HBs Ag and anti-HBs seems to be higher in public sweepers who work in poor working conditions, but we couldn't find any differences as compared with other groups previously studied.
강경훈,서승돈,황성규,서종근,박진성,박성파,이호원 대한신경과학회 2014 대한신경과학회지 Vol.32 No.3
A 43-year-old man presented with progressive ataxic gait of 5 months duration. His gait speed was almost normal, andhe did not exhibit shuffling, freezing, or festination. A formal neuropsychological evaluation revealed a deficit invisuospatial function and memory with mild frontal dysfunctions. Brain MRI revealed communicating hydrocephaluswith an Evans’ ratio of 0.32. After CSF removal by lumbar puncture the patient showed a marked improvement in gait aswell as frontal lobe functions, and was finally diagnosed as having idiopathic normal-pressure hydrocephalus.
반사 시스템 응용에 의한 북측면의 태양 복사에너지 강도
최원기,유경돈,서승직 대한건축학회 2004 대한건축학회논문집 Vol.20 No.11
This paper focuses on applications to a sun reflecting(hereafter referred to as suncatcher) system for the increase of solar radiant energy intensity in the north surface of building. This suncatcher system uses the same principle as reflecting solar collectors and is similar to the 'Le four solaire d'Odello' of French. This paper performs its fundamental study through the simplified numerical model. Preliminary results indicate the suncatcher system could provide profitable conditions for solar thermal collection of the north surface in all climates. As a passive device, application of suncatcher baffle outside the north surface in building could significantly increase the level of thermal collection on a sunny day. Consequently, the suncatcher system is proved to be an effective device for the improvement of environment performance in the north surface. An additional study is required to establish the complete suncatcher system on the basis of this research. This approach could have implications for energy efficiency and conservation, effectively utilizing the free resource of solar radiation.
Suncatcher System에 의한 북측면의 주광 및 열환경 성능 평가
최원기,서승직,김의종,유경돈 대한건축학회 2005 대한건축학회논문집 Vol.21 No.6
This paper focuses on applications to a solar energy utilizing(hereafter referred to as Suncatcher) system for the improvement of daylight and thermal performance in the north facade of building. This Suncatcher System uses the same principle as reflecting solar collectors and is similar to theLe four solaire d'Odelloof French. This paper performs its fundamental study through the simplified numerical model. Preliminary results indicate the Suncatcher System could provide profitable conditions for daylight and solar thermal collection of the north facade in all climates. As a passive device, application of Suncatcher System baffle outside the north facade in building could significantly increase the level of daylight and thermal collection on a sunny day. Consequently, the Suncatcher System is proved to be an effective device for the improvement of daylight and thermal performance in the north facade. An additional study is required to establish the complete Suncatcher System on the basis of this research. This approach could have implications for energy efficiency and conservation, effectively utilizing the free resource of solar radiation.
서종근,이호원,서승돈,박성파 대한수면연구학회 2013 Journal of sleep medicine Vol.10 No.2
Kleine-Levin syndrome is characterized by recurrent episodes of hypersomnia and associated cognitive and behavioral impairments. We present a 47-year-old female patient with recurrent hypersomnia and disorder of appetite. During each episode, patient slept more than 24 hours with hyperphagia or anorexia. Physical examinations, laboratory tests, and brain MRI showed no significant abnormality in the patient. Nocturnal polysomnographic study showed high sleep efficiency, reduced sleep latency and REM sleep latency, and increased sleep stage 1 & 2. The multiple sleep latency tests showed one episode of sleep-onset REM periods. This is the first atypical case of Kleine-Levin syndrome in Korea which showed short duration of episodes and hypersomnia combined with anorexia.
기관지 천식 환자에서 단기간의 부신피질호르몬제 투여가 뇌하수체 및 부신피질 기능에 미치는 영향
김옥란(Ok Lan Kim),서승천(Seung Cheon Seo),허성호(Sung Ho Hue),최병휘(Byung Hue Choi),배혜상(Hae Sang Bae),성천모(Cheon Mo Seong),이재용(Jae Yong Lee),최민석(Min Seok Choi),이원돈(Won Don Lee) 대한내과학회 1989 대한내과학회지 Vol.36 No.1
N/A Short-term, high dose corticosteroid therapy is often required for control of acute asthma episodes. To evaluate possible Hypothalamic-Pituitary-Adrenal (HPA)-axis suppression and recovery after such therapy, we studied 7 patients with adult acute asthma before and at 1, 3 and 7 days after completion of a 12 day course of corticosteroid. Corticosteroid was administered as a loading dose (methylprednisolone which was equivalent to 4 mg of hydrocortisone/kg body weight) and maintenance dose (equivalent to 3mg of hydrrcortisone/kg body weight/6 hours) for 3 days, followed by prednisolone (usual start dose was prednisolone 60 mg as a single daily morning dose). The dose was then reduced in half every 3 days. The function and reserve of the HPA-axis were evaluated with basal plasma cortisol, ACTH and short corticotropin stimulation tests. The results obtained were as follows: 1. Baseline plasma cortisol, ACTH, and cortisol responses to corticotropin before corticosteroid treatment were 10.3±5.6 ㎍/dl, 25.4±8.4 /㎍/ml, and 17.7±6.2 ㎍/dl, respectively. 2. One day after corticosteroid therapy, plasma cortisol and ACTH levels (3.9±2.4 ㎍/dl, 9.2±9.0 pg/ml) were significantly reduced compared to pretreatment levels (p<0.01. p<0.01), but the cortisol responses to corticotropin were preserved. 3. Three days after concluding the corticosteroid therapy, plasma cortisol and ACTH levels had returned to 68.9% and 71.7% of the pretreatment levels respectively, and were restored to near pretreatment baseline levels 7 days after treatment. These data suggest that a brief course of high dose corticosteroid treatment may limit the adrenal component of HPA responses for up to 7 days and patients may be at risk if they encounter major surgery or infection during this time.