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A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

  • Kim, Se-Hee;Lim, Byung-Chan;Chae, Jong-Hee;Kim, Ki-Joong;Hwang, Yong-Seung
    • Clinical and Experimental Pediatrics
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    • v.53 no.6
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    • pp.718-721
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    • 2010
  • Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the $CREB$ $binding$ $protein$ ($CREBBP$) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.

The use of topology optimization in the design of truss and frame bridge girders

  • Kutylowski, Ryszard;Rasiak, Bartosz
    • Structural Engineering and Mechanics
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    • v.51 no.1
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    • pp.67-88
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    • 2014
  • It is shown that topology optimization is a valuable tool for the design of bridge girders. This paper is a follow-up to (Kuty${\l}$owski and Rasiak 2014) and it includes an analysis of truss members' outer dimensions dictated by the standards. Moreover, a frame bridge girder mapped from a selected topology is compared with a typical frame girder on the basis of (Kuty${\l}$owski and Rasiak 2014). The analysis shows that topology optimization by means of the proposed algorithm yields a topology from which one can map a frame bridge girder requiring less material for its construction than the typical frame girder currently used in bridge construction.

Supporting System far Safe Appraisal and Management of Agricultural Structures using Relational Database and Geographic Information (관계형 데이터베이스와 지형정보를 이용한 농업구조물의 안전점검 및 이력관리 지원시스템)

  • 김종옥;김한중;이정재;고만기
    • Magazine of the Korean Society of Agricultural Engineers
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    • v.44 no.3
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    • pp.101-110
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    • 2002
  • Most of the agricultural structures are in shortage of feasible facility management because these structures are small in size and spacially distributed in rural area. Inspection tools based on visual inspections are generally used for agricultural structures in most of the countries, including Korea. It is necessary to survey data of the irrigation structures to maintain records, and to develop the interface program by constructing database of inspection data. This study was conducted to develop a system for safe appraisal and repair works on agricultural irrigation structures. Repair and rehabilitation method can be chosen from an optimum viewpoint if the information between the method and life-cycle management cost of agricultural structures is constructed in the database. In this study, the system assisting onsite field investigation and determining the typical rehabilitation method of typical agricultural structural problems such as fractures and cracks of members was developed.

An Enhanced Description Assistant for SOAP Message Exchange in SOA

  • Hung, Pham Phuoc;Byun, Jeong-Yong
    • Proceedings of the Korean Information Science Society Conference
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    • 2011.06a
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    • pp.336-339
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    • 2011
  • When SOAP messages carry vital business information, their integrity and confidentiality needs to be preserved. Concerns have been raised due to XML Rewriting attacks on SOAP message which create a foundation for typical faults in SOAP messages and make it vulnerable to use in Web Service environment. We have already provided a solution to tackle this problem on integrity of SOAP messages in earlier works by proposing a system called System Description Assistant. That system was able to identify and fix typical faults in SOAP messages. This paper mainly reflects future directions of our previous researches and enhances previous ones by adding more comprehensive functions to detect and possibly fix faults occurred due to XML rewriting attacks.

Analytical fragility curves for typical Algerian reinforced concrete bridge piers

  • Kibboua, Abderrahmane;Naili, Mounir;Benouar, Djillali;Kehila, Fouad
    • Structural Engineering and Mechanics
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    • v.39 no.3
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    • pp.411-425
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    • 2011
  • This paper illustrates the results of a seismic vulnerability study aimed to derive the fragility curves for typical Algerian reinforced concrete bridge piers using an analytical approach. Fragility curves express the probability of exceeding a certain damage state for a given ground motion intensity (e.g., PGA). In this respect, a set of 41 worldwide accelerometer records from which, 21 Algerian strong motion records are included, have been used in a non-linear dynamic response analyses to assess the damage indices expressed in terms of the bridge displacement ductility, the ultimate ductility, the cyclic loading factor and the cumulative energy ductility. Combining the damage indices defined for 5 damage rank with the ground motion indices, the fragility curves for the bridge piers were derived assuming a lognormal distribution.

Development of computational software for flutter reliability analysis of long span bridges

  • Cheng, Jin
    • Wind and Structures
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    • v.15 no.3
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    • pp.209-221
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    • 2012
  • The flutter reliability analysis of long span bridges requires use of a software tool that predicts the uncertainty in a flutter response due to uncertainties in the model formulation and input parameters. Existing flutter analysis numerical codes are not capable of dealing with stochastic uncertainty in the analysis of long span bridges. The goal of the present work is to develop a software tool (FREASB) to enable designers to efficiently and accurately conduct flutter reliability analysis of long span bridges. The FREASB interfaces an open-source Matlab toolbox for structural reliability analysis (FERUM) with a typical deterministic flutter analysis code. The paper presents a brief introduction to the generalized first-order reliability method implemented in FREASB and key steps involved in coupling it with a typical deterministic flutter analysis code. A numerical example concerning flutter reliability analysis of a long span suspension bridge with a main span of 1385 m is presented to demonstrate the application and effectiveness of the methodology and the software.

Spinal Nerve Root Swelling Mimicking Intervertebral Disc Herniation in Magnetic Resonance Imaging -A Case Report-

  • Kim, Yu-Yil;Lee, Jun-Hak;Kwon, Young-Eun;Gim, Tae-Jun
    • The Korean Journal of Pain
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    • v.23 no.1
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    • pp.51-54
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    • 2010
  • A herniated intervertebral disc is the most common type of soft tissue mass lesion within the lumbar spinal canal. Magnetic resonance imaging (MRI) is a useful tool for the assessment of patients with lower back pain and radiating pain, especially intervertebral disc herniation. MRI findings of intervertebral disc herniation are typical. However, from time to time, despite an apparently classic history and typical MRI findings suggestive of disc herniation, surgical exploration fails to reveal any lesion of an intervertebral disc. Our patient underwent lumbar disc surgery with the preoperative diagnosis of lumbar disc herniation; however, nothing could be found during the surgical procedure, except a swollen nerve root.

Instrumentation and Control Systems for Nuclear Power Plants (뉴스초점 - 원자력 발전소 계측제어 시스템)

  • Koo, In-Soo
    • Journal of the Korean Professional Engineers Association
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    • v.43 no.2
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    • pp.45-52
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    • 2010
  • At the end of last year, Korean nuclear power plants, APR-1400 and a research reactor have been contracted to build plants at United Arab Emirates and Jordan. Since 1959, a historical background of nuclear technologies in Korea is summarized. The safety requirements for Instrumentation and Control (I&C) systems in Nuclear Power Plants (NPP) are discussed. Specific descriptions on the typical safety classification of I&C systems, the definitions of the electrical class 1E and the countermeasures against common caused failures are provided. And summaries of typical I&C systems such as the protection systems, the control systems, the instrumentations, the monitoring systems and a control room in NPP are introduced. Strict requirements on the development of the digital computer systems in nuclear applications are described.

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Micromachined MoO3 Gas Sensor with Low Power Consumption of 0.5 Watt

  • Jang, Gun-Eik;Wu Q.H.;Liu C.C.
    • Transactions on Electrical and Electronic Materials
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    • v.6 no.4
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    • pp.173-176
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    • 2005
  • A new $MoO_3$ based microsensor with low power consumption was presented. Typical size of sensor was 5mm in width and 8mm in length. As a sensitive electrode, $MoO_3$ was successfully fabricated by IC technology on pyrex glass of $250{\mu}m$ in thickness. After annealing at $550^{\circ}C$ for 3hrs, the film was fully crystallized and demonstrated as pure $MoO_3$ structure. The grain size of $MoO_3$ was plat like and typical size was about $1{\mu}m$. Based on the results of sensitivity measurement, $MoO_3$ microsensor shows especially high selectivity to $H_2$ reducing gas atmosphere. The applied heater power was lower than 0.5 Watt.

-Performance Evaluation of $\bar{x}$ and EWMA Control Charts for Time series Model using Bootstrap Technique- (시계열 모형에서 붓스트랩 기법을 이용한 $\bar{x}$ 와 EWMA 관리도의 수행도 평가)

  • 송서일;손한덕
    • Journal of Korean Society of Industrial and Systems Engineering
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    • v.23 no.57
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    • pp.123-129
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    • 2000
  • The Bootstrap method proposed by Efron is non-parametric method which doesn't depend on the estimation of prior distribution refer to population. A typical statistical process control chart which is generally used is developed under the assumption that observations follow mutually independent and identically distributed within a sample and between samples. However, autocorrelation greatly affect the developed control chart under the assumption that observations are mutually independent. Many researchers showed that the result which was analyzed by using a typical control chart for the observations which has the correlation violated to the independence assumption can not be true. Therefore, we compared the standard method with bootstrap method and then evaluated them for x control chart and EWMA control chart by using bootstrap method which was proposed by Efron in the AR(1) model when the observations have correlation.

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