• Title/Summary/Keyword: base-isolated

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Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings - a diagnostic conundrum

  • Mishra, Kirtisudha;Singla, Shilpy;Sharma, Suvasini;Saxena, Renu;Batra, Vineeta Vijay
    • Clinical and Experimental Pediatrics
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    • v.57 no.2
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    • pp.91-95
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    • 2014
  • Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.

Molecular Characterization of Plasmid from Bifidobacterium longum

  • Park, Myeong-Soo;Moon, Hye-Won;Ji, Geun-Eog
    • Journal of Microbiology and Biotechnology
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    • v.13 no.3
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    • pp.457-462
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    • 2003
  • The complete nucleotide sequence of a plasmid, pMG1, isolated from Bifidobacterium longum MG1 has been determined. This plasmid, composed of 3,862 base pairs with 65.1% of G+C content. harbors two major open reading frames (ORF) encoding putative proteins of 29 kDa (ORF I) and 71 kDa (ORF II). ORF I showed relatively high amino acid sequence homology with replication proteins of other plasmids from Gr Im-positive and -negative bacteria. Upstream of ORF I, four sets of tandem repeat sequences resembling the iteron structure of related plasmids were found. S1 endonuclease treatment and Southern blot analysis revealed that pMG1 accumulates single-stranded DNA (ssDNA) intermediate, which indicate i the rolling circle replication (RCR) mechanism of this plasmid. Homology search indicated that ORF II encodes plasmid mobilization protein, and the presence of highly conserved oriT sequence in the upstream of this gene supported this assumption. RT-PCR showed that only ORF I is expressed in vivo. Based on these results, pMG 1 was exploited to construct a shuttle vector, pBES2. It was successfully transformed into Bifidobacterium and maintained stably.

Damage index sensor for smart structures

  • Mita, Akira;Takahira, Shinpei
    • Structural Engineering and Mechanics
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    • v.17 no.3_4
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    • pp.331-346
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    • 2004
  • A new sensor system is proposed for measuring damage indexes. The damage index is a physical value that is well correlated to a critical damage in a device or a structure. The mechanism proposed here utilizes elastic buckling of a thin wire and does not require any external power supply for memorizing the index. The mechanisms to detect peak strain, peak displacement, peak acceleration and cumulative deformation as examples of damage indexes are presented. Furthermore, passive and active wireless data retrieval mechanisms using electromagnetic induction are proposed. The passive wireless system is achieved by forming a closed LC circuit to oscillate at its natural frequency. The active wireless sensor can transmit the data much further than the passive system at the sacrifice of slightly complicated electric circuit for the sensor. For wireless data retrieval, no wire is needed for the sensor to supply electrical power. For the active system, electrical power is supplied to the sensor by radio waves emitted from the retrieval system. Thus, external power supply is only needed for the retrieval system when the retrieval becomes necessary. Theoretical and experimental studies to show excellent performance of the proposed sensor are presented. Finally, a prototype damage index sensor installed into a 7 storey base-isolated building is explained.

In Vitro Determination of Intracellular Phosphorylated Metabolites of Antiviral Pyrimidine Analogs (Zidovudine의 In Vitro 세포내 대사물의 측정을 통한 약효 검색법 개발)

  • Han, Kyu-Won;Kim, Kil-Soo
    • Journal of Pharmaceutical Investigation
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    • v.32 no.4
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    • pp.285-290
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    • 2002
  • In order to assay the efficacy of newly synthesized antiviral compounds, in vitro studies of their active intracellular phosphorylated metabolites were established as compared with Zidovudine (ZDV). Antiviral base analogs require intracellular phosphorylation prior to the inhibition of HIV replication. Therefore, antiviral drugs concentrations in plasma have not reflected any direct relationship with activity or toxicity. A method has been developed to measure the concentration of total phosphorylated metabolites inside peripheral blood mononuclear cells using modified commercial radioimmunoassay (RIA). ZDV 5'-monophosphate was synthesized and used as a procedural control for RIA modification. PBMCs were isolated from whole blood and incubated with ZDV for 20 h to allow metabolic phosphorylation. Viable cells were extracted overnight with 60% methanol. After evaporation, the extract was reconstituted in Tris buffer. Samples were split into two fractions, one of which was treated with alkaline phosphatase (AP) to liberate phosphate groups. Concentrations of phosphorylated metabolites were determined by subtracting thε concentration of non-AP-treated fraction from that of the treated fraction. Recovery of phosphorylated ZDV from cell extracts was approximately 90%, and reproducibility was acceptable (coefficients of variation <15% for concentrations${\geq}$0.25 ng/mL). Intracellular concentrations $(0.135{\sim}5.019\;nmole/10^6\;cells)$ followed a nonlinear dose-response relationship over the range $0.015{\sim}2.996mM$ extracellular ZDV, with concentration-dependant saturation.

Biochemical Characterization of Recombinant UDP-Glucose:Sterol 3-O-Glycosyltransferase from Micromonospora rhodorangea ATCC 31603 and Enzymatic Biosynthesis of Sterol-3-O-β-Glucosides

  • Hoang, Nguyen Huu;Hong, Sung-Yong;Huong, Nguyen Lan;Park, Je Won
    • Journal of Microbiology and Biotechnology
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    • v.26 no.3
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    • pp.477-482
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    • 2016
  • A uridine diphosphate-glucose:sterol glycosyltransferase-encoding gene was isolated and cloned from the established fosmid library of Micromonospora rhodorangea ATCC 27932 that usually produces the aminoglycoside antibiotic geneticin. The gene consists of 1,185 base pairs and encodes a 41.4 kDa protein, which was heterologously expressed in Escherichia coli BL21(DE3). In silico analyses of the deduced gene product suggested that it is a member of the family 1 glycosyltransferases. The recombinant protein MrSGT was able to catalyze the transfer of a glucosyl moiety onto the C-3 hydroxy function in sterols (β-sitosterol, campesterol, and cholesterol), resulting in the corresponding steryl glucosides (β-sitosterol-3-O-β-ᴅ-glucoside, campesterol-3-O-β-ᴅ-glucoside, and cholesterol-3-O-β-ᴅ-glucoside). This enzyme prefers phytosterols to cholesterol, and also shows substrate flexibility to some extent, in that it could recognize a number of acceptor substrates.

Preparation of Highly Water Soluble Tacrolimus Derivatives: Poly(Ethylene Glycol) Esters as Potential Prod rugs

  • Chung, Yong-Seog;Cho, Hoon
    • Archives of Pharmacal Research
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    • v.27 no.8
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    • pp.878-883
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    • 2004
  • Tacrolimus (FK506), which is isolated from Streptomyces tsukubaensis, is a new potent immu-nosuppressant. Because of poor solubility in water, the conventional intravenous dosage forms of tacrolimus contain surfactants such as cremophor EL (BASF Wyandotte Co.) or hydroge-nated polyoxy 60 castor oil (HCO-60) which may cause adverse effects. This study relates to a polymer-tacrolimus conjugate, which can be dissolved in water, formed by chemically binding the sparingly soluble drug, tacrolimus, with the water soluble polymer, methoxypoly(ethylene glycol) (mPEG). Water soluble tacrolimus-mPEG conjugates have been synthesized and shown to be function in vitro as prodrugs. These conjugates are in the form of an ester wherein the 24-, 32- or 24,32-positions are esterified. The desired 24-, 32- or 24,32-esterified com-pounds were obtained by initially acylating of tacrolimus with iodoacetic acid at the 24-,32-, or 24,32-positions and then reacting the resulting acylated tacrolimus with a mPEG in the pres-ence of a base such as sodium bicarbonate. These conjugates were converted again into tac-rolimus by the action of enzymes in human liver homogenate, and the half-lives of the conjugates are approximately 10 min in the homogenate, indicating that the esterified tacroli-mus derivatives may be practically applicable as a prod rug for the immunosuppressant.

Development of On-line Performance Diagnostic Program of a Helicopter Turboshaft Engine

  • Kong, Chang-Duk;Koo, Young-Ju;Kho, Seong-Hee;Ryu, Hye-Ok
    • International Journal of Aeronautical and Space Sciences
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    • v.10 no.2
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    • pp.34-42
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    • 2009
  • Gas turbine performance diagnostics is a method for detecting, isolating and quantifying faults in gas turbine gas path components. On-line precise fault diagnosis can promote greatly reliability and availability of gas turbine in real time operation. This work proposes a GUI-type on-line diagnostic program using SIMULINK and Fuzzy-Neuro algorithms for a helicopter turboshaft engine. During development of the diagnostic program, a look-up table type base performance module are used for reducing computer calculating time and a signal generation module for simulating real time performance data. This program is composed of the on-line condition monitoring program to monitor on-line measuring performance condition, the fuzzy inference system to isolate the faults from measuring data and the neural network to quantify the isolated faults. Evaluation of the proposed on-line diagnostic program is performed through application to the helicopter engine health monitoring.

Development and Flight Test of Unmanned Autonomous Rotor Navigation System Based on Virtual Instrumentation Platform (Virtual Instrumentation 플랫폼 기반 무인 자율 로터 항법시스템 개발 및 비행시험)

  • Lee, Byoung-Jin;Park, Sang-Jun;Lee, Seung-Jun;Kim, Chang-Joo;Lee, Young-Jae;Sung, Sang-Kyung
    • Journal of Institute of Control, Robotics and Systems
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    • v.17 no.8
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    • pp.833-842
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    • 2011
  • The objectives of this research are development of guidance, navigation and control system for RUAV on virtual instrumentation and real flight test. For this research, the system is divided to DAQ (data acquisition) section, actuator section and controller section. And the hardware and software on each sections are realized on LabVIEW base. Waypoint guidance and control of auto flight are realized using PID gain tuning and waypoint vector tracking guidance algorism. For safe flight test, auto/manual switching module isolated from FCS (Flight Control System) is developed. By using the switch module, swift mode change was achieved during emergency flight case. Consequently, a meter level error of flight performance is achieved.

Mechanical Characterization of Lead-Rubber Bearing by Horizontal Shear Tests (수평 전단시험에 의한 납 삽입 적층고무베어링의 기계적 특성 평가)

  • 전영선;최인길;유문식
    • Journal of the Earthquake Engineering Society of Korea
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    • v.5 no.6
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    • pp.1-10
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    • 2001
  • In this study, the horizontal loading tests of 10ton and 200ton capacity of LRB(lead-rubber bearing) were performed for the evaluation of the dynamic properties of the LRB. It is noted from the test results that dynamic properties of the LRB are dependent on the loading frequency, vertical load and shear strain. A Slender bearing subjected to large deformation will tend to develop plastic hinges in the end regions of the lead plug which will cause the failure of the lead plug. It is recommended that the appropriate mechanical properties of LRB considering the level of structural response and input ground motion should be used in the design of base isolated structures.

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ON-LINE PSEUDO-DYNAMIC NETWORK TESTING ON BASE-ISOLATED BRIDGE USING WEB-BASED JAVA MONITORING SYSTEM (자바 모니터링 서버를 이용한 면진교량의 온라인 네트워크 유사동적 실험)

  • Park, D.U.;Yun, C.B.;Lee, J.W.;Nagata, K.;Watanabe, E.;Sugiura, K.
    • Proceedings of the Earthquake Engineering Society of Korea Conference
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    • 2005.03a
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    • pp.477-486
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    • 2005
  • 본 논문에서는 한국과 일본에 위치한 여러 연구기관들 사이에서 수행된 온라인 네트워크 유사동적 실험 결과에 대해 나타내었다.예제 구조물로는 4경간 연속의 면진 교량을 이용하였다. 실험 장비를 보유하고 있는 두 연구기관에서 면진 장치의 비선형 거동에 대한 실험을 수행하고 각 실험 결과를 조합하여 전체 구조의 동적 해석을 수행하였다. 본 논문에서는 먼저 인터넷을 이용한 두 가지 데이터 전송기법을 이용하여 두 기법의 효율성을 비교, 분석하였다. 또한 최근 국내에 위치한 두 연구기관 사이에서 수행된 실험 결과에 대해 논의하였다. 본 연구에서는 상대 연구기관의 실험 상황 및 수행된 실험 결과의 효율적인 모니터링을 위하여 웹 기반의 자바 모니터링 시스템을 개발하였다. 마지막으로 유선과 무선 인터넷을 이용한 온라인 실험 기법에 대하여 나타내었다. 그 결과, 온라인 네트워크 실험에 소요된 실험 시간은 데이터 전송 기법과 실험장비에 따라 매 시간 단계의 데이터 전송에 0.2-15초, 각 연구기관의 유사동적 실험에 1-10초의 시간이 소요되어 매우 큰 폭으로 변화함을 알 수 있었다. 또한 무선 인터넷을 이용한 온라인 실험의 경우, 뛰어난 이동성과 인터넷 보안성 등과 같은 여러 가지 장점을 가지고 있음을 알 수 있었다.

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