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Limb-girdle Muscular Dystrophy (지대형 근이양증)

  • Kim, Dae-Seong
    • Annals of Clinical Neurophysiology
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    • v.6 no.2
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    • pp.65-74
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    • 2004
  • Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

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Identification of Natural dyes used in 16th pink Dallryeong (Official's robe in Joseon Dynasty) Excavated from Cheonan, Chungnam (충남 천안시 출토 16세기 분홍 단령에 사용된 염재 동정)

  • Chae, Jeongmin;Ryu, Hyo-Seon
    • Journal of Conservation Science
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    • v.31 no.3
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    • pp.299-308
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    • 2015
  • Aim of this study is to identify dyestuff of the Dallryeong(official's robe in Joseon Dynasty, 16th century) excavated from Yuryang-dong, Cheonan, in 1996. For this purpose, extracted dyestuffs from Dallryeong fabric and from natural dyestuffs for red color(safflower, Sapanwood, Madder) which are presumed to have been used in the Dallryeong, are analyzed and compared by high performance liquid chromatography(HPLC). As a result, HPLC chromatogram of extracts of the Dallryeong's dyestuff and safflower are showed a peak at 17.5 minutes. The UV/Vis spectra of the samples are showed the maximum absorption wavelength at 519nm. This result is identical with the analysis of the previous studies on red dyestuff of safflower. In addition, the analysis of Mass Spectrometry(MS) showed the identical result of the peak with m/z 910. Following these results, excavated pink Dallryeong were considered to have been dyed with safflower.

Strengthening Families: The Re-structuring of Family Services in Hong Kong

  • Leung, Joe C.B.
    • 한국사회복지학회:학술대회논문집
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    • 2002.10a
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    • pp.3-19
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    • 2002
  • The problems and needs of families in Hong Kong are becoming more complex. Traditional family structures and functions are rapidly eroding. Moreover, family problems are further exacerbated by a growing number of socio-economic issues including rising divorce rates and extra-marital affairs. continuous family reunion migration from Mainland China, emotional and financial cost of caring for the older people and the changing economy which has pushed more families into hardship. In effect, more and more families are becoming vulnerable to risk. Traditional family services in Hong Kong are varied in mode, operation and provision, often overlapping in service boundaries with other family-oriented programs. In many instances, family service centers are stretched far beyond their capacity. As a consequence, they become too reactive, remedial and casework dominated. The University of Hong Kong Consultant Team recommended that family service programs have to protect vulnerable families and strengthen family capacities to promote maximum independence. The direction of family services is summarized as: strengthening families; child-centered, family-focused and community-based. New integrative family service centers aim at attaining the principles of promoting accessibility to users with minimum physical, psychological and administrative barriers; early identification of needs and intervention before the further deterioration of problems; integration of services cutting across program boundaries, and partnership between service providers to achieve efficient and effective use of scarce resources. Under the new model, multi-skilled teams can respond more proactively to a wide range of social needs, rather than addressing needs in isolation. To demonstrate the effectiveness of the new model, the consultant team has been commissioned by the government to evaluate the performance of these two-year pilot projects. More importantly, a coherent and family-friendly social policy should be formulated to strengthen family capacity against family-related problems.

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Noise Source Identification of Electric Parking Brake by Using Noise Contribution Analysis and Identifying Resonance of Vehicle System (차량 시스템의 소음 기여도분석 및 공진 규명을 통한 전자식 주차 브레이크 소음원 규명)

  • Park, Goon-Dong;Seo, Bum-June;Yang, In-Hyung;Jeong, Jae-Eun;Oh, Jae-Eung;Lee, Jung-Youn
    • Transactions of the Korean Society of Automotive Engineers
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    • v.20 no.3
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    • pp.119-125
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    • 2012
  • Caliper intergrated Electric Parking Brake (EPB) is an automatic parking brake system, attached to rear caliper. Because EPB uses luxury vehicles recently, the drivers of vehicles are sensitive to the EPB noise. EPB is operated by the motor and gear, so noise is generated by motor and gear. In order to reduce noise, One of EPB manufacturers uses helical gear and changes the shape of EPB housing. But these methods are not optimized for reduction of interior noise. There are many noise transfer paths into vehicle interior and it is difficult to identify the noise sources. Therefore, in this study, we performed contribution analysis and modal testing in the vehicle system. It is possible to distinguish between air-borne noise and structure-borne noise in the vehicle interior noise by comparing interior noise peak with resonance mode map.

Adaptation of Modal Parameter and Elastic Modulus Estimation Method for PSC Bridge Based on Ambient Vibration (상시 진동 계측을 기반으로 한 PSC 교량의 모드계수 및 탄성계수 추정기법 적용)

  • Lee, Sung-Jin;Kim, Saang-Bum;Choi, Kyu-Yong;Lee, Tae-Young
    • Proceedings of the Korean Society for Noise and Vibration Engineering Conference
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    • 2007.11a
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    • pp.574-577
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    • 2007
  • 본 논문에서는 실 시공 중인 PSC 교량에 대하여 풍하중에 의한 상시 진동 계측 자료을 기반으로, 교량의 동특성(고유진동수, 모드형상)을 추정하였으며, 이를 바탕으로 대상 교량의 탄성계수를 추정하여 정적 계측을 통한 탄성계수 결과와 비교하였다. 본 논문에서 사용한 동특성 추정 기법은, 대표적인 주파수 영역 해석 방법인 Frequency Domain Decomposition(FDD) 방법과 시간영역 해석 방법인 Stochastic Subspace Identification(SSI) 방법을 이용하였다. 탄성계수 추정은 유한요소모델과 계측 결과를 이용하여 두 개의 결과 차이가 수렴하도록 하는 반복 계산을 통해 탄성계수를 추정하였다. 우선, 탄성계수 추정 기법의 검증을 위해, 수치 해석을 통하여 그 기법을 검증하였으며, 해석 결과 정확한 탄성계수값을 추정하였으며, 이를 통해 본 논문에서 적용한 탄성계수 추정법에 대한 신뢰도를 확인하였다. 이를 바탕으로 사용된 추정 기법을 실 교량에 적용하기 위해 실제 상시 진동 계측 값을 바탕으로 실교량의 동특성 및 탄성계수를 추정하였다. FDD 및 SSI 기법을 통한 모드 해석 결과, 두 기법 모두 유사한 결과를 나타내어 FDD 및 SSI 두 방법에 대한 결과의 신뢰도를 확인 할 수 있었다. 추정 탄성계수 값은 거더 단면내 설치한 응력계 및 변형률계를 통한 계측 결과값의 범위 내에 있음을 확인하였다. 따라서 본 논문에서 적용한 교량의 상시 진동 데이터를 바탕으로 한동특성 및 탄성계수 추정법이 구조물의 대략적인 탄성계수 및 이에 따른 구조물의 전체적인 건전도를 파악하는데 도움이 되리라 생각된다.

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Application of Toxicogenomic Technology for the Improvement of Risk Assessment

  • Hwang, Myung-Sil;Yoon, Eun-Kyung;Kim, Ja-Young;Son, Bo-Kyung;Jang, Dong-Deuk;Yoo, Tae-Moo
    • Molecular & Cellular Toxicology
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    • v.4 no.3
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    • pp.260-266
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    • 2008
  • Recently, there has been scientific discussion on the utility of -omics techniques such as genomics, proteomics, and metabolomics within toxicological research and mechanism-based risk assessment. Toxicogenomics is a novel approach integrating the expression analysis of genes (genomic) or proteins (proteomic) with traditional toxicological methods. Since 1999, the toxicogenomic approach has been extensively applied for regulatory purposes in order to understand the potential toxic mechanisms that result from chemical compound exposures. Therefore, this article's purpose was to consider the utility of toxicogenomic profiles for improved risk assessment, explore the current limitations in applying toxicogenomics to regulation, and finally, to rationalize possible avenues to resolve some of the major challenges. Based on many recent works, the significant impact toxicogenomic techniques would have on human health risk assessment is better identification of toxicity pathways or mode-of-actions (MOAs). In addition, the application of toxicogenomics in risk assessment and regulation has proven to be cost effective in terms of screening unknown toxicants prior to more extensive and costly experimental evaluation. However, to maximize the utility of these techniques in regulation, researchers and regulators must resolve many parallel challenges with regard to data collection, integration, and interpretation. Furthermore, standard guidance has to be prepared for researchers and assessors on the scientifically appropriate use of toxicogenomic profiles in risk assessment. The National Institute of Toxicological Research (NITR) looks forward to an ongoing role as leader in addressing the challenges associated with the scientifically sound use of toxicogenomics data in risk assessment.

Vibrational Characteristics of the Deteriorated Railway Plate Girder Bridge by Full-scale Experimental Modal Analysis (Full-scale 실험 모드해석을 이용한 노후화된 철도판형교의 진동특성)

  • Kim, Joo-Woo;Jung, Hie-Young
    • Journal of Korean Society of Steel Construction
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    • v.24 no.1
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    • pp.119-128
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    • 2012
  • In this study, experimental vibration tests are performed on a real full-scale railway steel plate girder bridge, which resides in open-space environments. Using experimental modal analysis techniques, the modal parameters of the railway steel plate girder bridge yielded by the modal testing of the impact hammer are compared and investigated with the natural frequencies and mode shapes obtained by finite element analysis. This work focuses on the application of model updating techniques to measured experimental data and output-only data from an analytical vibration study that takes into account various geometric and material properties of the bridge members. A finite element model of the railway bridge structure is used to verify the modal experimental results. It is subsequently updated using the corresponding modal identification technique. The basic database is provided to evaluate damage, which can be determined based on the changes in the element properties, resulting from the process of updating the finite element model benchmark and experimental data.

Research on OS fingerprinting Method for Real-time Traffic Analysis System (실시간 트래픽 분석을 위한 운영체제 판별 방법에 관한 연구)

  • Lee, Hyun-Shin;Kim, Myung-Sup
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.36 no.5B
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    • pp.443-450
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    • 2011
  • The Internet has become an essential part in our modern life by providing useful information. So, the volume of Internet traffic has been increasing rapidly, which emphasizes the importance of network traffic analysis for effective network operation and management. Signature based analysis have been commonly used, but it is shown that the increase of signatures due to the increase of applications causes the performance degradation of real-time traffic analysis on high-speed network links. In this paper, we propose OS fingerprinting method for real-time traffic analysis. The previous problems can be solved by utilizing the OS information. The OS fingerprinting method for real-time traffic analysis, proposed in this paper, conducts under passive mode, and improves the limitation of a previous method such as low completeness and accuracy. In this paper, we enlarged an input data to improve completeness, and used the User-Agent field in HTTP packet to extract various OS signatures. Also, we changed an input data from packet to flow to improve accuracy.

Hydrophillic Interaction Chromatography-tandem Mass Spectrometry Method for Identification and Quantitation of 5-MeO-DIPT and its Metabolites in Rat Urine

  • Kim, Yoon;Kim, Un-Yong;In, Moon-Kyo;Lee, Jae-Ick;Kwon, Oh-Seung;Yoo, Hye-Hyun
    • Bulletin of the Korean Chemical Society
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    • v.32 no.4
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    • pp.1158-1164
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    • 2011
  • 5-Methoxy-N,N-diisopropyltryptamine (5-MeO-DIPT), a psychoactive tryptamine derivative, is a hallucinogenic drug of abuse. In this study, 5-OH-DIPT and its metabolites were identified and the quantitative method was developed and validated by using hydrophilic interaction chromatography-tandem mass spectrometry (HILICMS/MS). Chromatographic separation was achieved on an Atlantis HILIC silica column ($5{\mu}m$, $100{\times}2.1\;mm$). The metabolites of 5-MeO-DIPT in rat urine were characterized via Q1 scanning and product ion scanning. As a consequence, 5-MeO-IPT, 5-OH-DIPT, 6-OH-5-MeO-DIPT and their glucuronide conjugates were detected and identified as the metabolites of 5-MeO-DIPT. Subsequently, a quantitative method for 5-MeO-DIPT and its major metabolites, 5-MeO-IPT and 5-OH-DIPT, was developed in multiple reactions monitoring (MRM) mode. The calibration curves for all analytes evidenced good linearity over the concentration range of 1-1000 ng/mL with linear correlation co-efficients ($r^2$) in excess of 0.99. The intra- and inter-day accuracy and precision were 92.2-110.2% and 1.5-9.9%, respectively.

Nondestructive Damage Identification of Free Vibrating Thin Plate Structures Using Micro-Genetic Algorithms (마이크로 유전 알고리즘을 이용한 자유진동 박판구조물의 비파괴 손상 규명)

  • Lee, Sang Youl
    • Journal of Korean Society of Steel Construction
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    • v.17 no.2 s.75
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    • pp.173-181
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    • 2005
  • This study deals with a method to identify damages of free vibrating thin plate structures using the combined finite element method (FEM) and the advanced uniform micro-genetic algorithm.To solve the inverse problem using the combined method, this study uses several natural frequencies instead of mode shapes in a structure as the measured data. The technique described in this paper allows us not only to detect the damaged elements but also to find their numbers, locations, and the extent of damage.To demonstrate the feasibility of the proposed method, the algorithm is applied to a free vibrating steel thin plate structures with arbitrary damages. From the standpoint of computation efficiency, the proposed method in this study has advantages when compared with the existing simple genetic algorithms. The numerical examples demonstrate that the method using micro-genetic algorithms can possibly detect correctly the damages of thin plates from only several natural frequencies instead of their natural modes.