• 제목/요약/키워드: BBs

검색결과 441건 처리시간 0.022초

Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10 : the first case identified in Korea

  • Yoon, Sung Chul;Lee, Hye Jin;Ko, Jung Min;Kang, Hee Gyung;Cheong, Hae Il;Yu, Hyeong Gon;Kim, Jae Hyung
    • Journal of Genetic Medicine
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    • 제11권1호
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    • pp.31-35
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    • 2014
  • Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

한국에 서식하는 무당개구리의 피부에서 추출된 Bombesin 유사물질의 분자적 이질성 및 생물학적 활성 (Isolation of Bombesin-Like Substances from the Skin of the Frog, Bombina orientalis: Its Molecular Heterogeneity and Biological Activity)

  • 박형진;이윤열;권혁일;신원임;서상원
    • The Korean Journal of Physiology
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    • 제23권1호
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    • pp.79-87
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    • 1989
  • Bombesin (BBS)은 유럽에 서식하는 무당개구리(Bombina bombina)의 피부로 부터 발견되었으며 이것은 14개의 amino acid로 구성되어 있음이 잘 알려져 있다. 한국에도 유럽의 무당개구리와 종(species)이 다른 무당개구리인 Bombina orientalis가 서식함이 알려졌으나 이 무당개구리의 피부에 BBS가 존재하는 지는 확실치 않다. 그러므로 본 실험에서는 한국에 서식하는 무당개구리의 피부로부터 BBS 유사물질(BBS-LS)을 추출하여 분자적 이질성과 생물학적 활성을 측정하고자 하였다. 박리한 무당개구리 피부를 100% methanol로 처리하여 얻은 추출물의 일부를 Sephadex G-50, superfine column에 부하하고 여기에서 얻은 chromatogram을 분석한 결과 BBS-LS의 3.5%는 합성 gastrin releasing peptide (GRP-27) 보다 앞에 용출되었으며 나머지 96.5%는 GRP-27과 합성 BBS-14의 사이에 용출되었다. alkaline alumina column과 Sephadex G-10, fine column 그리고 Sephadex G-50, superfine column을 연속적으로 이용하여 methanol 추출물로 부터 BBS-LS를 정제 하였다. 정제된 BBS-LS를 Sephadex G-50, superfine column으로 분석한 결과 합성 GRP-27과 합성 BBS-14 사이에 용출되어 BBS-LS가 이미 알려진 BBS-14와 분자의 크기에 있어서 다른 물질임을 알 수 있었다. 정제된 BBS-LS를 reversed phase HPLC로 분석한 실험은 이러한 결과를 더욱 확실히 뒷받침하였다. 정제된 BBS-LS를 합성 BBS-14와 비교하여 생물학적 활성을 검토한 결과 흰쥐에서 gastrin의 분비, 췌장액의 분비, 회장의 수축을 촉진하고 guinea pig 담낭의 수축을 증가시키는 등 이들 두물질이 매우 유사한 생물학적 활성을 지니고 있음을 발견하였다. 이러한 결과로 보아 한국에 서식하는 무당개구리의 피부는 서로 다른 두가지 형태의 BBS-LS를 함유하고 있으며 그 중에서 96.5%를 차지하는 BBS-LS는 합성 BBS-14와 분자적 이질성을 지니나 유사한 생물학적 활성을 지니고 있음을 알 수 있었다.

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한국산 무당개구리 피부에 존재하는 Bombesin 유사면역 반응물질의 순수정제 및 생물학적 활성 (Purification and Biological Activities of Bombesin Like Immunoreactivity from Skin of the Frog, Bombina orientalis in Korea)

  • 권혁일;김일;박형진
    • The Korean Journal of Physiology
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    • 제24권2호
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    • pp.363-375
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    • 1990
  • The present investigation was performed to purify bombesin-like immunoreactivity (BBS-LI) from the skin of frogs, B. orientalis inhabiting Korea. For extraction of BBS-LI, the fresh skin of 360 g from frogs was immersed in 1,800 ml of 100% methanol and then kept at $4^{\circ}C$ for 5 days. BBS-LI was partially purified by liquid chromatography using an alkaline alumina column followed by a Sephadex G-10 column. BBS-LI was further purified by using sequential HPLC of reversed phase C18 preparation, gel permeation, SP-ion exchange and reversed phase C18 analysis. BBS-LI in fractions of each step was monitored by radioimmunoassay for which bombesin antiserum with a titer of 1 : 188,800 was raised in a guinea pig. Eventually, two different BBS-LI were successfully purified and each BBS-LI showed the following character. 1) BBS-LI was well separated into two peaks in SP-ion exchange HPLC. One (BBS-LI-K1) bound to the column while the other (BBS-LI-K2) did not. 2) BBS-LI-K1, 73.8% of total BBS-LI, was not differentiated from synthetic bombesin in reversed phase C18 analytical and gel permeation HPLC. 3) BBS-LI-K2, 26.2% of total BBS-LI, eluted later than synthetic bombesin in reversed phase C18 analytical HPLC, but it eluted with a retention time identical to that of synthetic bombesin in gel permeation HPLC. 4) The two forms of BBS-LI and synthetic bombesin identically stimulated gastrin release and pancreatic exocrine secretion including volume, protein output and amylase output in anesthetized rats. It is concluded from the above results that the skin of B. orientalis contains two different forms of BBS-LI which are very identical to bombesin immunologically and biologically. In comparison with synthetic bombesin containing 14 amino acid residues, the major form shows quite similar pattern in all HPLC used in the present study, but the minor form exhibits quite different pattern in SP-ion exchange and reversed phase C18 analytical HPLG.

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Predictive analyses for balance and gait based on trunk performance using clinical scales in persons with stroke

  • Woo, Youngkeun
    • Physical Therapy Rehabilitation Science
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    • 제7권1호
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    • pp.29-34
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    • 2018
  • Objective: This study aimed to predict balance and gait abilities with the Trunk Impairment scales (TIS) in persons with stroke. Design: Cross-sectional study. Methods: Sixty-eight participants with stoke were assessed with the TIS, Berg Balance scale (BBS), and Functional Gait Assessment (FGA) by a therapist. To describe of general characteristics, we used descriptive and frequency analyses, and the TIS was used as a predictive variable to determine the BBS. In the simple regression analysis, the TIS was used as a predictive variable for the BBS and FGA, and the TIS and BBS were used as predictive variables to determine the FGA in multiple regression analysis. Results: In the group with a BBS score of >45 for regression equation for predicting BBS score using TIS score, the coefficient of determination ($R^2$) was 0.234, and the $R^2$ was 0.500 in the group with a BBS score of ${\leq}45$. In the group with an FGA score >15 for regression equation for predicting FGA score using TIS score, the $R^2$ was 0.193, and regression equation for predicting FGA score using TIS score, the $R^2$ was 0.181 in the group of FGA score ${\leq}15$. In the group of FGA score >15 for regression equation for predicting FGA score using TIS and BBS score, the $R^2$ was 0.327. In the group of FGA score ${\leq}15$ for regression equation for predicting FGA score using TIS and BBS score, the $R^2$ was 0.316. Conclusions: The TIS scores are insufficient in predicting the FGA and BBS scores in those with higher balance ability, and the BBS and TIS could be used for predicting variables for FGA. However, TIS is a strong predictive variable for persons with stroke who have poor balance ability.

BBS 평가 빈도가 뇌졸중 환자의 균형에 미치는 영향 (The Effects of BBS Evaluating Frequency for Balance in Patients with Stroke)

  • 양승훈
    • 대한물리치료과학회지
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    • 제15권2호
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    • pp.25-32
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    • 2008
  • Background: The purposes of this study were to examine whether “Berg Balance Sale(BBS)” had influence on the improvement of stroke patient's balancing ability, and to identify whether the effects had significant differences to these three groups that different frequency of BBS evaluation. Subjects were divided into three groups, a daily evaluating group (n=12), weekly evaluating group (n=12), and group that evaluating when admit and discharge (n=12). Methods: All patients were treated general neurorehabilitative physical therapy for daily during 4 weeks. All patients of these groups were evaluated balance function by using of BBS balance testing tool. Results: At the first week and after 4 weeks, balance function that of these groups was improved significantly (p<,05). Especially, daily evaluating group was improved the most. In the comparison differences between 3 groups, daily evaluating group and weekly evaluating group, daily evaluating group and group that evaluating when admit and discharge were exhibited differences significantly. But there was no significant difference between weekly evaluating group and group that evaluating when admit and discharge. Conclusion: According to the results as presented above, testing method, BBS is effects on stroke patient's balancing ability considerably. And if BBS which can apply evaluate balance function properly apply with conventional neurorehabilitative physical therapy, stroke patients would obtain significant effects on the improvement of balancing ability.

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뇌졸중 환자에서 BBS, STI, MBI, TUG, FRT, 낙상과의 상관관계 (Correlation Between BBS, FRT, STI, TUG, MBI, and Falling in Stroke Patients)

  • 이한숙;최진호
    • The Journal of Korean Physical Therapy
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    • 제20권4호
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    • pp.1-6
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    • 2008
  • Purpose: We studied the correlation between BBS (Berg Balance Scale), Functional Reach Test (FRT), Timed-Up & Go test (TUG), Stability Index (STI), MBI (Modified Barthel Index), and Fall History. Methods: We recruited 20 stroke patients from the Gang Dong Gu Health Care Center in Seoul, Korea. All subjects could walk with or without an assisting device. Subjects first completed a questionnaire pertaining to their fall history and Activity of Daily Living (MBI), and then were evaluated with BBS, TUG, FRT, and STI. We used the Tetrax posturography system that calculates a STI based on fluctuations in vertical ground reaction forces. The data were analyzed using a Pearson Correlation Coefficient. Results: The BBS and FRT (p<0.05) and MBI (p<0.01) showed a significant positive correlation. BBS negatively correlated with STI and TUG (p<0.01). Fall history and BBS, TUG, MBI, FR, STI did not correlate. Conclusion: The BBS helps predict weight shifting, walking, and ADL, but is not good for predicting fall risk. So, we need to study about factors that affect falling.

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버그 균형 척도 평가 빈도수가 뇌졸중 환자의 동적 균형 및 보행 속도에 미치는 영향 (The Effect of Berg Balance Scale Evaluating Frequency for Dynamic Balance and Walking Speed of Patients With Stroke)

  • 최현석;김현진
    • 대한물리치료과학회지
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    • 제19권4호
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    • pp.7-15
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    • 2012
  • Background : The purpose of this study is to determine the effect Berg Balance Scale(BBS) evaluating frequency on the walking speed and dynamic balance control in patient with stroke. Method : sixteen patient with stroke were randomly allocated to an experimental and control group of eight patients each. For the experimental group, we performed both general physical therapy and BBS and general physical therapy only for the control group. The general physical therapy programs for the 2 group were conducted for 1 hour 1 a day, 5 times a week for 4 weeks, and BBS for the experimental group was conducted for 1 time a week. Result : A comparison of the Berg Balance Scale(BBS). Timed Up Go test(TUG) and 10 meter Walking Test(10mWT) score obtained before and after the 4-week treatment revealed statistical significant different(p<.05) for the experimental group. BBS evaluated weekly and the first day and the last day evaluated in both groups after 4 weeks of BBS assessment improved significantly were (p<.05) especially in the assessment group on a weekly basis more improvement was. BBS weekly assessment group and the first day and on the last day, a group evaluation after 4 weeks in both the change of the TUG, 10mWT was significantly improved in the evaluation group(p<.05). Conclusion : 1 time a week of the BBS assessment of with stroke patients BBS, TUG, 10mWT that can help to improve. especially on a weekly basis, more has been improved.

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Prototype System Of The Electronic Bulletin Board Integrated Management System

  • Abe, Michiko;Sato, Kiwamu;Ogasawara, Naohito;Nunokawa, Hiroshi;Noguchi, Shoichi
    • 한국감성과학회:학술대회논문집
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    • 한국감성과학회 2002년도 춘계학술대회 논문집
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    • pp.39-43
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    • 2002
  • Various electronic bulletin board systems (BBS) exist on the Internet. A user has to use two or more BBS. Because his/her interests may not be restricted to only one subject and BBS satisfying his/her interests may not be restricted to only one also. Furthermore, in each BBS, two or more subjects are parallel discussed while the newest contribution is always carried out. Therefore, when a user tries to keep on perusing about a specific subject, it is necessary for the user to remember in which BBS the subject exists and in the past what article of the subject was read. In this paper, we are aiming to construct an electronic bulletin board integrated management system. In this system, a user is able to use two or more BBS just like one BBS. In this paper, we present a framework of the electronic bulletin board integrated management system and implementation of a prototype system.

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뇌졸중 환자의 균형, 인지, 기능회복, 일상생활 평가도구의 상관성 (The Correlation between the Balance, Cognition, Motor Recovery and Activity of Daily Living in Stroke Patie)

  • 조기훈;김찬문
    • 대한물리치료과학회지
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    • 제18권1호
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    • pp.61-67
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    • 2011
  • Background: The purpose of the present study was to determine correlations between the Berg Balance Scale (BBS), Modified Barthel Index(MBI), Mini-Mental State Examination(MMSE) and Fugl-Meyer motor function Assessment(FMA) in persons with strokes. Methods: We recruited 77 stroke patients from the Seoul Bukbu Geriatric Hospital in Seoul, Korea. Balance was measured by BBS. Activity of Daily Living was assessed using MBI. Cognitive function was examined using MMSE. Motor Recovery was measured using FMA. Data was analyzed using Pearson' correlation. Resurts: There were a statistically significant correlation between BBS and MBI, BBS and MMES, BBS and FMA upper extremity, BBS and FMA lower extremity. There were a statistically significant correlation between MBI and MMSE, MBI and FMA upper extremity, MBI and FMA lower extremity. There were a statistically significant correlated between FMA upper extremity and FMA lower extremity. Conclusions: This study will help rehabilitation program for stroke patients and will be the reference data for selection of therapy and evaluation method.

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구조적 분석에 의한 e-BBS 토의 활동 및 참여자의 행동 분석 (The Analysis of Discussion Activities and Participants' Behavior in the e-BBS based on a Structural Analysis)

  • 문교식
    • 컴퓨터교육학회논문지
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    • 제9권6호
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    • pp.41-51
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    • 2006
  • 비동기 통신 수단으로써의 e-BBS (electronic-Bulletin Board System, 전자게시판)는 협력 학습을 위한 유용한 매체로 알려져 왔다. 그러나 e-BBS의 구조적 분석을 이해하기 위한 이론적 결과는 이직 충분하지 못하다. 그 결과, 복잡한 의사소통 현상을 이해하고 교수자를 도와 학생들을 교육 목적으로 이끌 수 있도록 보조하는 적절한 도구의 부재를 초래하게 되었다. 그로 인해 BBS를 활용하는 교수자는 토의 상황의 구조적, 종합적 이해가 부재한 상태에서 거의 방임적으로 운영하게 된다. 이러한 문제점에 대처하기 위하여 본 논문에서는 BBS의 구조적 이해를 돕기 위한 이론적 토대를 제시하고 그를 바탕으로 토의 활동 참여자의 행동 분석을 위한 계산 모델을 제시하고자 한다. 쌍방향 토의 활동의 형식 표현은 응답 그래프와 연결 그래프의 두 그래프로 이루어지며 분석을 위한 여러 측정치와 통계량이 제시된다. 분석의 결과를 명확하게 제시하기 위하여 유형별로 분류한다.

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