• Title/Summary/Keyword: BBS10

Search Result 326, Processing Time 0.041 seconds

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
    • /
    • v.11 no.1
    • /
    • pp.31-35
    • /
    • 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 Effect of Berg Balance Scale Evaluating Frequency for Dynamic Balance and Walking Speed of Patients With Stroke (버그 균형 척도 평가 빈도수가 뇌졸중 환자의 동적 균형 및 보행 속도에 미치는 영향)

  • Choi, Hyun-Suk;Kim, Hyun-Jin
    • Journal of Korean Physical Therapy Science
    • /
    • v.19 no.4
    • /
    • pp.7-15
    • /
    • 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.

  • PDF

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

  • Park, Hyoung-Jin;Lee, Yun-Lyul;Kwon, Hyeok-Yil;Shin, Won-Im;Suh, Sang-Won
    • The Korean Journal of Physiology
    • /
    • v.23 no.1
    • /
    • pp.79-87
    • /
    • 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.

  • PDF

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

  • Woo, Youngkeun
    • Physical Therapy Rehabilitation Science
    • /
    • v.7 no.1
    • /
    • pp.29-34
    • /
    • 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.

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

  • Kwon, Hyeok-Yil;Kim, Yil;Park, Hyoung-Jin
    • The Korean Journal of Physiology
    • /
    • v.24 no.2
    • /
    • pp.363-375
    • /
    • 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.

  • PDF

The Relationship Between Postural Control and Functional Performance Ability in Subacute Stroke Patients (아급성기 뇌졸중 환자의 체간 조절과 기능적 수행능력과의 관계)

  • An, Seung-heon;Cho, Gyu-Haeng
    • PNF and Movement
    • /
    • v.10 no.3
    • /
    • pp.7-18
    • /
    • 2012
  • Purpose : This study was to compare the difference Trunk Control Test(TCT), Postural Assessment Scale for Stroke(PASS-TC), and Trunk Impairment Scale(TIS) and its subscales in relation to the difference MBI(Modified Barthel Index), BBS(Berg Balance Scale), and to establish the association between MBI, BBS, Fugl Meyer-motor function(FM-M), and to predict MBI-subscales from the variables. Methods : 58 stroke patients, attending a rehabilitation programme, participated in the study. Trunk control was measured with the use of the TCT, PASS-TC, TIS, and the performance of Activities daily living was obtained by MBI, and dynamic balance ability(by BBS). Trunk control scores from the difference MBI, BBS were compared using the 1-way ANOVA(Mann Whitney U test) and the data were analyzed using Pearson product correlation. Multiple stepwise regression analyses were performed to identify prognostic factors for ADL subscale. Results : Trunk control scores showed significant differences between MBI(F=2.139~13.737, p<.05~.001), BBS(t=3.491~7.705, p<.01~.001). It was significantly related with value of the MBI(r=.25~.50), BBS(r=.38~.68), FMM( r=.31~.48). Stepwise linear regression analysis showed an additional, significant contribution of the TCT, in addition to the PASS-TC, dynamic sitting balance subscale of the TIS for measures of MBI subscales. Conclusion : Measures of trunk control were significantly related with values of MBI, BBS score, so the management of trunk rehabilitation after stroke should be emphasized. The use of both quantitative and qualitative scales was shown to be a good measuring instrument for the classification of the general performance of the stroke patients. Further study about trunk control is needed using a longitudinal study design.

Correlation of Berg Balance Scale and Functional Reach Test

  • Park, Eun-Young;Kim, Won-Ho
    • Physical Therapy Korea
    • /
    • v.14 no.4
    • /
    • pp.28-34
    • /
    • 2007
  • The purposes of this study were to provide the basic data and investigate the reliability of functional reach test and identify correlation of Berg balance scale (BBS) and functional reach test (FRT). The subjects were twenty healthy young adults and forty-five over 65 years old in order to compare balance ability. These data were analyzed by independent t-test and Pearson's correlation test using SPSS WIN 10.0. The results were as follows. Intrarater reliability coefficients of FRT was .976 and interrater was .942. FRT was significantly correlated with age, height, and BBS (p<.05). There were no significant differences in FRT and BBS by sex. There was significant difference in reach distance between below 74 elderly and above in FRT. FRT is very reliable test for balance and significantly correlated with BBS. Therefore, it is suggested that FRT is a clinically useful tool to substitute for BBS measuring balance ability in the elderly.

  • PDF

Correlation Between BBS, TUG and Lower Extremity Muscle Activity during Semi-Squat in Stroke Patients (뇌졸중환자의 반웅크리기 동안에 하지근활성도와 BBS, TUG와의 상관관계)

  • Park, Seung-Kyu;Yang, Dae-Jung;Kim, Je-Ho;Jeong, Yong-Sik
    • Journal of the Korean Academy of Clinical Electrophysiology
    • /
    • v.9 no.2
    • /
    • pp.7-12
    • /
    • 2011
  • Purpose : We studied the correlation between reference voluntary contraction (% RVC) of vastus lateralis (VL) and vastus medialis (VM), Berg balance scale (BBS), and timed-up & go (TUG) test. Methods : We recruited 30 stroke patients from a rehabilitation center at a hospital.? All subjects could walk with or without an assisting device. Subjects were evaluated with % RVC of VL and VM, BBS, and TUG. The data were analyzed using a Pearson correlation coefficient. Results : The % RVC of VL and VM and BBS (p<0.01) showed a significant positive correlation. TUG negatively correlated with % RVC of VL and VM and BBS (p<0.01). Conclusion : Lower extremity muscle activity increases balance and walking ability. We recommend the implementation of lower extremity strength exercises in the rehabilitation of stroke patient.

Performance Improvments of Inter-System Handoff for IMT-2000 (IMT-2000을 위한 시스템간 핸드오프의 성능 향상)

  • Choo, Hyun-Seung;Youn, Hee-Yong;Choi, Dae-Kyu
    • The KIPS Transactions:PartC
    • /
    • v.9C no.6
    • /
    • pp.945-952
    • /
    • 2002
  • For a successful inter-system handoff, several important issues must be handled and additional new features must be considered. This paper focuses on the cellular structure of small cells which are required for the high density of population and a handoff scheme designed between two heterogenous networks. Incase of inter-system handoff (ISHO), the time required to complete the handoff can vary and depends on the structure of networks. And also the transmission of additional signals can increase the probability of failure for ISHO. Here we propose the sub-boundary cell base station (Sub-BBS) to alleviate the role of the BBS. The Sub-BBS is adjacent to BBS in the same regional mobile network. 쪼en the mobile terminal enters Sub-BBS, the network starts finding a new route and after entering BBS, it initiates the transformation process. The proposed scheme significantly reduces the ISHO failure rate compared to the existing one which is the most recent and known as efficient.

Comparison of the Berg Balance and Fullerton Advanced Balance Scale for Predicting Falls in Patients With Chronic Stroke (만성 뇌졸중 환자의 낙상 예측을 위한 버그균형 척도와 플러턴 어드밴스드 균형 척도의 비교)

  • Kim, In-seop;Nam, Taek-gil;Kim, Gyoung-mo;Kim, Jun-seop;Kim, So-jeong;Kang, Jeong-ha
    • Physical Therapy Korea
    • /
    • v.25 no.1
    • /
    • pp.39-46
    • /
    • 2018
  • Background: The Berg Balance Scale (BBS) and the Fullerton Advanced Balance (FAB) scale have been used to assess balance function in patients with chronic stroke. These clinical balance scales provide information about potential risk factors for falls. Objects: The purpose of this study was to investigate the incidence of and risk factors of falls and compare the predictive values of the BBS and FAB scale relative to fall risk in patients with stroke through receiver operating characteristic analysis. Methods: Sixty-three patients with stroke (faller=34, non-faller=29) who could walk independently for 10 meters participated in this study. The BBS and FAB scale were administered. Then, we verified the cut-off score, sensitivity, specificity, and the area of under the curve. Results: In this study, the BBS and FAB scale did not predict fall risk in patients with stroke in the receiver operator characteristic curve analysis. A cut-off score of 37.5 points provided sensitivity of .47 and specificity of .35 on the BBS, and a cut-off score of 20.5 points provided sensitivity of .44 and specificity of .45 on the FAB scale. Conclusion: The BBS and FAB scale were not useful screening tools for predicting fall risk in patients with stroke in this study, but those who scored 37.5 or lower on the BBS and 20.5 or lower on the FAB scale had a high risk for falls.