국내 Fabry disease 환자의 a-Galatosidase A 유전자 돌연변이 검색

박기범,최지혜,강윤성,김선미,정향민,문영준,이광호 中央大學校 基礎科學硏究所 2001 基礎科學硏究所 論文集 Vol.15 No.-

Fabry disease(FD) is an X-linked recessive lysosomal disorder caused by a deficiency of a-galactosidase A(a-Gal A), localized at Xq22. Besides onset of pain and paresthesias in the extremities, FD was diagnosed by absence of a-Gal A activity. In this experiment the a-Gal A activity of Korean FD patients was spectrometrically analysed using an artificial substate, 4-Mrthylumbellifery1-a-D-galactoside. As expected, no a-Gal A activity was detected in lymphocytes and lymphoblastoid cells from FD patients. To screen the mutation in their a-Gal A genes, we performed single strand conformation polymorphism(SSCP) and PCR-direct sequencing form seven a-Gal A exons. The nonsense mutation was identified both in classically affected hemyzygotes and a heterozygote. They showed the C to T transition at nucleotide number 11,002, resulting in a arginine-to-stop(R342X). This result will be applicable for pre- and neonatal detection of FD and to define the genotype/phenotype correlation.

고주파 해저면 반사손실의 주파수 종속성 측정

박순식,최지웅,윤관섭,나정열 한양대학교 이학기술연구소 2002 이학기술연구지 Vol.5 No.-

During the last several decades, although there have been lots of efforts to develope the high-frequency bottom reflection loss model, the frequency dependence of bottom loss was not considered in most cases because the sea bottom was assumed to be generally much smoother and lower gradient than the sea surface. However, if the sea bottom is rougher than acoustic wavelength, the scattered field will be increased and the reflected field will be decreased. In this paper, the high-frequency bottom reflection losses were obtained through the measurement of reflected waves from the artificially-made-flat sandy bottom. The experimental data were compared with the values calculated by the forward loss model of Mourad & Jackson. Conseouently, we suggest the frequency dependence of bottom reflection loss. 기존 해저면 반사손실 모델들은 해저면을 해수면에 비해 거칠기와 경사도가 매우 평탄하거나 완만한 경계면으로 가정하므로 주파수에 따른변화를 고려하지 않거나 미약하다고 가정하였다. 그러나 고주파를 사용하는 소오나 시스템의 경우, 음파의 파장에 비해 해저면이 거칠다면 음파는 산란 영향이 증가하게 되므로 상대적으로 반사손실 또한 증가하게 된다. 따라서 본 논문에서는 임의로 모의된 사질 성분의 해저면에서 수십 ㎑ 이상의 고주파들을 사용하여 주파수별 반사손실을 계산하고, 이를 기존의 해저면 반사손실 모델과 비교하였으며, 해저면 반사손실의 주파수 종속성을 제시하고자 한다.

무기 이소시안화 및 티오시안화 전이금속 화합물의 구조에 관한 연구

박윤창,지광용,이미녕,이영희 성균관대학교 기초과학연구소 1989 論文集 Vol.40 No.1

IR, UV 그리고 EPR 분석을 통해 〔R_4N〕_2 〔M(NCX)_4〕 (이 때, R=CH_3^+, C_2H_5^+; M=Cd Cu, Zn, X=O, S) 화합물의 착이온에서 중심 금속이 N과 결합하고 있는지 아니면 O, S와 결합하고 있는지를 연구했다. 위의 모든 화합물은 금속이 N과 결합된 것으로 규명되었다. Cd(Ⅱ)과 Cu(Ⅱ) 화합물은 일그러진 정사면체 구조에 의해 C-N, C-S 신축진동수의 분리를 보였다. IR 스펙트럼에서 〔(C_2H_5)_4N〕_2 〔Cu(NCS)_4〕는 단일선의 C-N 신축진동수를 보인 반면, 〔(CH_3)_4N〕_2 〔Cu(NCS)_4〕는 일그러진 정사면체 구조에 기인한 이중선을 보였다. 〔(C_2H_5)_4N〕_2 〔(Cu(NCS)_4〕는 d-d 전이로 판단되는 넓은 전자흡수띠가 438nm 근처에서 관찰된 반면, 〔(CH_3)_4N〕_2 〔Cu(NCS)_4〕는 d-d전이에 의한 흡수띠가 관찰되지 않았다. 5% Cu(Ⅱ)이 혼입된 〔(C_2H_5)_4N〕_2 〔Cd(NCS)_4〕의 EPR 스펙트럼은 비등방성 구조를 지녔으나, 〔(CH_3)_4N〕_2 〔Cd(NCS)_4〕는 비등방성 뿐만 아니라 정규적인 정사면체 구조의 증거인 등방성을 상온에까지 지녔다. IR, UV and EPR spectra of the compounds whose formulas are 〔R_4N〕_2 〔M(NCX)_4〕, where R=CH_3^+, C_2H_5^+ and M=Cd, Cu, Zn;X=O, S have been studied in order to investigate whether the isocyanato, thiocyanato group is bonded to the central metal through the nitrogen atop or through the sulfur, oxygen atom in those complex ions. All above complexes showed that the metal is linked through the nitrogen atom. It was turned out to be that. the splitting in C-N and C-S stretching frequencies of Cd(Ⅱ) and Cu(Ⅱ) compounds is due to the distorted tetrahedral structure of those compounds. While IR spectrum of 〔(C_2H_5)_4N〕_2 〔Cu(NCS)_4〕 showed singlet C-N stretching frequency, 〔(CH_3)_4N〕_2 〔Cu(NCS)_4〕 showed doublet which indicates that the compound has a distorted tetrahedral structure. 〔(C_2H_5)_4N〕_2 〔Cu(NCS)_4〕 was observed to have a broad electronic absorption band near 438 nm which originates from d-d transition. On the other hand, 〔(CH_3)_4N〕_2 〔Cu(NCS)_4〕 did not show an absorption band due to d-d transition. EPR. spectrum of Cu(Ⅱ) doped 〔(C_2H_5)_4N〕_2 〔Cd(NCS)_4〕 showed anisotropic structure and 〔(CH_3)_4N〕_2 〔Cd(NCS)_4〕 showed both anisotropic and isotropic structure even at room temperature which is an evidence of regular tetrahedral structure.

조혈모세포로 형질도입에 있어서 Vesicular Stomatitis G Envelope의 효과

박지윤,유은선 梨花女子大學校 醫科大學 醫科學硏究所 2002 EMJ (Ewha medical journal) Vol.25 No.1

목적 : 조혈모세포에서 viral vector를 이용한 안정된 유전자 전달은 유전성 혈액질환의 유전자 치료의 실현에 우선되어야 한다. 그러나 실제로 조혈모세포의 생물학적 특성 등으로 인해 유전자 도입율이 현저히 낮아 임상적인 적용에는 제한이 있다. 저자들은 조혈모세포로 VSV-G 외막을 사용한 HIV vector의 형질도입 효과를 알아보고자 하였다. 방법 : VSV-G를 이용한 HIV-1 vector를 calcium phosphate coprecipitation 방법으로 293T 세포에 형질도입시켜 재조합 농축 바이러스를 얻었다. 분리한 CD34+세포에 재조합 농축 바이러스(10배 농축)를 넣은 다음 4㎍/㎖ polybrene(Sigma)를 첨가하였다. 각 well당 RPMI로 총 500㎕로 맞춘 다음 37℃, 5% CO_2 환경에서 배양하면서 24시간, 48시간 후에 형질도입의 효과를 유세포기와 면역형광 현미경으로 분석하였다. 결과 : HIV 재조합 바이러스가 형질도입된 CD34+ 세포는 YFP의 발현으로 초록색의 형광을 나타내었다. 유세포 분석상 CD34+ 세포로 형질도입율은 배양 24시간 후에는 4.7±2.4%였고, 48시간 후에는 5.7±2.7%였다. VSVG를 사용하지 않은 경우에서는 0.23±0.33%로 저조하였다. 결론 : VSV-G 외막에 의한 HIV vector를 사용하여 CD34+ 세포로 형질도입이 효과적임을 증명하였다. 이런 결과는 조혈모세포를 이용한 유전자 치료의 확대에 기여할 수 있을 것이다. Objectives : Stable gene transfer to human pluripotent hematopoietic stem cells is an attractive strategy for the curative treatment of many genetic hematologic disorders. In clinical tral, the level of gene transfer to this cell population have generally been low. In this study we have evaluated the efficiency of gene transfer to human umbilical cord blood(UCB) CD34+cells using vesicular stomatitis virus glycoprotein G(VSV-G) pseudotyped HIV-1 vector. Method : High titers of replication-defective VSV-G pseudotyped HIV-1 based vector encoding the enhanced yellow fluorescent protein were produced by transient transfection. Human CD34+cells purified from UCB were incubated with pseudotyped HIV supernatants for 24-48 hours. The transduction efficiency were measured by marker gene expression under the microscopy and flow cytometry. Results : Transduction rates into CD34+ were low at 0 and 24 hours, reflecting 4.7±2.4% at 24 hours, they were increased to 5.7±2.7% at 48 hours. Conclusion : We demonstrate efficient transduction of purified human UCB CD34+ by HIV vectors pseudotyped with VSV-G. The results extend the lentiviral vector to clinical gene therapy using human pluripotent hematopoietic stem cells.

리더십 평가에서 사회적 정보의 효과 : 서면 진술과 구두 진술 정보의 비교

박영석,윤지연 가톨릭대학교 사회과학연구소 2006 社會科學硏究 Vol.22 No.-

본 연구는 리더를 평가할 때 그 리더에 대한 행동, 태도, 역량 및 특성 등에 관한 주변 사람들의 의견, 즉 사회적 정보가 그 리더의 평가에 어떠한 영향을 주는지를 알아보고자 하였다. 이를 위해 두 개의 연구가 수행되었다. 연구1에는 대학생 106명이, 연구 2에는 대학생 136명이 피험자로 참여하였다. 실험 참여자들은 두 명의 리더들이 주인공으로 활동하는 약 25분 분량의 영상자료를 시청한 후, 필름 속 리더들을 LBDQ(리더행동기술질문지)를 사용하여 구조주도 행동과 배려 행동 차원에서 평가하도록 하였다. 필름 속 리더들은 각각 성과형 리더와 배려형 리더로 판단되는 활동을 하였다. 필름의 시청이 끝나면 실험 참여자들에게 사회적 정보를 화면을 통해 제시하였다. 연구 1에서는 자막을 통해 서면으로 사회적 정보를 제공하였고, 연구 2에서는 같은 대학생들의 인터뷰 장면을 동영상으로 보여 주며 구두로 사회적 정보를 제공하였다. 실험참여자를 두 집단으로 나누어 한 집단에게는 두 주인공이 서로 배려 행동을 많이 발휘하였다는 사회적 정보를 제공하였고, 다른 집단에게는 두 주인공이 서로 과제 지향적인 행동을 많이 발휘하였다는 정보를 제공하였다. 연구 1, 2를 통해 밝혀진 결과는 다음과 같다. 1) 평가자들은 객관적으로 관찰한 내용 즉, 필름 속의 리더가 발휘한 행동에 근거하여 리더를 평가하였다. 2) 평가자들은 사회적 정보의 영향을 받아 리더를 평가하였다. 3) 평가자들은 리더에 대한 평가차원 중 보다 애매하고 덜 구체적인 배려행동 차원에서 사회적 정보에 더욱 의존하였다. 논의에서는 본 연구의 시사점과 향후 연구 주제를 다루었다. This study examines the effects of social informations, in which other people's opinions about the leaders were conveyed, on the evaluation of leader behaviors. 106 subjects were participated in experiment 1 and 136 subjects in experiment 2. Subjects were observed two leaders in video tapes, 25 minute long and two leaders playing different leadership(Performance vs. Relation oriented), and then gave social informations about them before they evaluate leaders on LBDQ. Social informations from five peoples were conveyed by 'written statements' in experiment 1, and by 'oral statements' in experiment 2. In experiment 2, each five individual appeared in film and talked her/his opinions about two leaders. Subjects were divided to two groups and received different social informations. One group received 'two leaders are good performance leader' (social informations of Performance), and the other group received 'two leaders are good relation leader' (social information of Relation). Results indicate that 1) subjects evaluate leaders based on objective information, the observed behaviors in film, 2) subjects evaluate leaders on social informations too, 3) the effects of social information were stronger in Consideration dimension than Initiating-Structure dimension of LBDQ. The limitation and suggestion for further research were discussed.

전신성 흥반성 낭창에서의 생존율에 관한 연구

한지숙,박금수,조철호,고윤웅,윤진우,전상일 대한내과학회 1986 대한내과학회지 Vol.30 No.1

We retrospectively analyzed clinical and laboratory features of 58 patients with SLE for the survival and the factors which may have influenced the outcome from 1970 through 1983. The survival was calculated using the method of Merill and Shulman, taking the time of diagnosis and the onset of symptom as the starting point. We divided 58 patients with SLE into 2 groups, those whose survival was less than or equal to 2 years and those greater than 2 years, and compared clinical and laboratory features between them with particular emphasis on those factors which may have influenced the outcome. The results obtained as follows: 1) The estimated survival from diagnosis was 76.7% in 1 year, 62.3% in 2 years, 62.3% in 3 years, 59.6% in 4 years, 53.8% in 5 years and 50.6% in 10 years. The estimated survival from the onset of symptom was 65.5%, in 1 years, 59.54% in 2 years, 56.2% in 3 years, 52.2% in 4 years, 52.5% in 5 years, and 46.l% in 10 years. 2) There was a statisticaly significant difference in prognosis between 2 groups with regard to CNS involvement, serositis, and increased serum creatinine level(≥3.0mg/dl).

담도에 국한되어 증상을 유발한 석회쓸개즙 2 예

윤성우,이지영,하경호,이수경,한나,배효근,박선자 고신대학교 의과대학 2010 고신대학교 의과대학 학술지 Vol.25 No.2

Limy bile is a rare condition characterized by excessive precipitation of calcium carbonate in the gallbladder or bile duct. Recently we experienced two cases with obstructive jaundice in which limy bile in the common bile duct but not in the gallbladder for one case, and in the common bile duct and intra hepatic duct but not in the gallbladder for another case. The patients were treated by endoscopic sphincterotomy. Here, we report the cases and review the literature.

분산형 전원의 계통 연계에 따른 영향 및 시뮬레이션

심재선,박지웅,윤창대,임창민,장 현 三陟大學校 2006 論文集 Vol.39 No.-

As EG(Embedded Generation: photo- voltaic, wind, combined heat and power, fuel cell, small hydro etc.) grows fast in adopting to peak load reducing at the middle or the end of distribution system, there much has been interested in interconnection of EG. This paper discusses the various issue of a embedded generator to power system and shows the simulation of its various situation that could happen(focusing on load-flow by EG) by using a commercial software CYME(PSAF) for load-flow. With a result of above simulation, this paper shows a way of possible solution briefly.

하지 절단자 보행의 운동역학적 분석

임규찬,박윤서,배성제,정철수,신인식,김복영 師範大學 體育硏究所 1994 서울大學校 體育硏究所論集 Vol.15 No.2

This study was conducted to investigate the biomechanical characteristics of the gait pattern in an amputee for the purpose of improving the proper gait posture and designing the prosthetic. The subjects were six males amputees and one normal person. The ground reaction force was measured using AMTI force platform. The conclusions were as follows; 1. In case of amputee group, the ground reaction force was revealed in specific figure according to position in which they used the prosthetic, whereas in case of normal person the ground reaction force was revealed in the figure of two humps in regard of vertical axis. 2. In case of amputee group, the ground reaction force in time between fight foot contact and left foot contact was deviated from a figure of rectangle, whereas in case of normal person the ground reaction force was revealed in the figure of rectangle. 3. In case of amputee group, the ground reaction force referred to both feet angle point of view was revealed in irregular figure, whereas in case of normal person the ground reaction force was revealed about 47。

골다공증 환자에서 Alendronate (Marvil)의 1년간 치료효과

김효정,박지원,이수진,이관우,김현만,정윤석 대한내분비학회 2003 Endocrinology and metabolism Vol.18 No.1

연구배경: Alendronate는 골흡수 억제작용을 가진 비스포스포네이트 제재 중 하나로 골다공증의 치료와 예방에 사용되고 있으며 골밀도를 증가시키고 골다공증으로 인한 골절의 빈도를 감소시킨다고 보고되고 있다. 방법: 본 연구는 alendronate(Marvil??)가 골다공증의 치료에 미치는 효과를 검증하기 위하여 138명의 골다공증 진단을 받은 환자를 대상으로 시작하였고 1년 후 50명에서 골대사지표와 골밀도를 추적관찰하였다. 결과: Alendronate를 1년간 투여하였을 때 혈청 ALP는 38.3% 감소하였고 요중 DPD는 40.5% 감소하였다. Alendronate를 1년간 투여하였을 때 L2-4의 평균 골밀도는 6.7% 증가하였고 대퇴골의 평균 골밀도는 20.% 증가하였다. 4명(8%)에서 1년 이내에 새로운 골절이 발생하였고 이 중 3명은 척추골절, 1명은 대퇴골절이었다. 부작용으로 투약을 중단한 환자는 8명(5.8%)이었고 이 중 7명(5.1%)이 소화기증상을 호소하였다. 결론: 이상의 결과로 골다공증 환자에서 alendronate(Marvil??)의 1년간 투여가 골밀도를 증가시킴을 알 수 있었다. Background: To evaluate the effects of alendronate in preventing bone loss at the spine and hip in Korean cases of primary osteoporosis, we treated 138 patients with 10㎎ of alendronate daily. Of the 138 patients treated, 50 were treated for one complete year, and at their final visit, measurements were taken to assess the completed outcome of reatment, and the results from this small group were compared with those of the rest. The way this has been written causes ambiguity concerning exactly who was being studied. Check that my rewrite of this section conveys correctly the group that was studied, and how. Methods: The serum levels of calcium(Ca) and phosphorous(P), total alkaline phosphatase(ALP), the urine calcium creatinine ratio(Uca/cr) and urine deoxypyridinoline(DPD) were measured before, during, and after the 1 year treatment period. The bone mineral densities(BMDs) at the spine and hip were also measured before and after the treatment period. New clinical fractures and side effects, were evaluated during the treatment period. Results: The total serum ALP and urine DPD were decreased significantly, after the treatment period, by 38.3 and 40.5% respectively. The bone mineral density at the spine and hip were significantly increase after 1 year, by 6.7 and 2.0%, respectively. Of the 50 subjects who had completed a full year of treatment, only 4(8%) had developed new clinical fractures. Of the 138 patients who had been treated, 8(5.7%) discontinued the medication due to side effects. Of these, 7 had gastrointestinal symptoms, and 1 had skin eruption. Conclusion: Alendronate significantly decreased the total serum ALP and urine DPD and significantly increase spine and hip bone mineral density. Alendronate 10㎎ was effective in preventing bone loss in Korean cases of primary osteoporosis (J Kor Soc Endocrinol 18:56∼62, 2003)