• Journal of Genetic Medicine
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• v.11 no.1
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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.

• The Korean Journal of Physiology
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• v.23 no.1
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• pp.79-87
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• 1989

Molecular property as well as biological activities of bombesin-like substance (BBS-LS) isolated from the skin of B. orientalis in Korea was compared with those of synthetic BBS-14. BBS-LS in the crude extract was applied on a Sephadex G-50, superfine column $(1.6{\times}112\;cm)$. On chromatogram, the first peak (3.5% of BBS-LS) was found ahead of synthetic GRP-27, and the second peak (rest) between synthetic GRP-27 and synthetic BBS-14. The main form of BBS-LS was successfully purified by using a column of alkaline alumina followed by sequential gel-filtrations on a column of Sephadex G-10, fine and a column of Sephadex G-50, superfine. Chromatographic analysis of the purified BBS-LS using a column of Sephadex G-50, superfine and reversed phase HPLC revealed that the main form of BBS-LS in the skin of B. orientalis could be distinctly different from either BBS-14 or GRP-27 in molecular size. The purified BBS-LS exerted biological activities quite identical to those of synthetic BBS-14. The results of the present investigation indicate that the skin of B. orientalis contains BBS-LS composed of two distinct forms. The main form of BBS-LS purified in the present study is heterogenous to both synthetic BBS-14 and GRP-27 in molecular size but identical to BBS in biological activities.

• The Korean Journal of Physiology
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• v.24 no.2
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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.

• Physical Therapy Rehabilitation Science
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• v.7 no.1
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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.

• Journal of Korean Physical Therapy Science
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• v.15 no.2
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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.

• The Journal of Korean Physical Therapy
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• v.20 no.4
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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.

• Journal of Korean Physical Therapy Science
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• v.19 no.4
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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.

• Proceedings of the Korean Society for Emotion and Sensibility Conference
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• 2002.05a
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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.

• Journal of Korean Physical Therapy Science
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• v.18 no.1
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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.

• The Journal of Korean Association of Computer Education
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• v.9 no.6
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• pp.41-51
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• 2006

Educators have recognized the usefulness of the e-BBS(electronic-Bulletin Board System) as an asynchronous communication medium for collaborative learning. However, theoretical outcomes to understand the structural analysis of thc e-BBS are not adequate enough. As a consequence, we are left with inadequate supportive tools to understand complex communication phenomena and to assist teachers to guide students to educational purposes. This can cause teachers to have a laissez-faire approach using BBS as a communication medium for education due to the lack of understanding the structural and overall situation. To address this issue, this paper presents a theoretical foundation to help understand the structure of discussion activities via the e-BBS and then presents a computational model, based on the structural analysis, for the behavioral analysis of participants. The formal representation of bi-directional discussion activities is realized by devising two graphs - the reply graph and the connection graph. Various measurements and statistics for the analysis are presented in the paper. To clarify the analysis, we classify the results produced through the analysis of discussion activities and participants' behaviors.