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Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing (Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단)

  • Hong, Jun Ho;Kim, Se Hee;Lee, Seung Tae;Choi, Jong Rak;Kang, Hoon Chul;Lee, Joon Soo;Kim, Heung Dong
    • Journal of the Korean Child Neurology Society
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    • v.26 no.4
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    • pp.272-275
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    • 2018
  • KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

Independent I/O Relay Class Design Using Modbus Protocol for Embedded Systems

  • Kim, Ki-Su;Lee, Jong-Chan
    • Journal of the Korea Society of Computer and Information
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    • v.25 no.6
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    • pp.1-8
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    • 2020
  • Communication between system modules is applied using the Modbus protocol in industrial sites including smart factories, industrial drones, building energy management systems, PLCs, ships, trains, and airplanes. The existing Modbus was used for serial communication, but the recent Modbus protocol is used for TCP/IP communication.The Modbus protocol supports RTU, TCP and ASCII, and implements and uses protocols in embedded systems. However, the transmission I/O devices for RTU, TCP, and ASCII-based protocols may differ. For example, RTU and ASCII communications transmit on a serial-based communication protocol, but in some cases, Ethernet TCP/IP transmission is required. In particular, since the C language (object-oriented) is used in embedded systems, the complexity of source code related to I/O registers increases. In this study, we designed software that can logically separate I/O functions from embedded devices, and designed the execution logic of each instance requiring I/O processing through a delegate class instance with Modbus RTU, TCP, and ASCII protocol generation. We designed and experimented with software that can separate communication I/O processing and logical execution logic for each instance.

Implementation of virtual reality for interactive disaster evacuation training using close-range image information (근거리 영상정보를 활용한 실감형 재난재해 대피 훈련 가상 현실 구현)

  • KIM, Du-Young;HUH, Jung-Rim;LEE, Jin-Duk;BHANG, Kon-Joon
    • Journal of the Korean Association of Geographic Information Studies
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    • v.22 no.1
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    • pp.140-153
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    • 2019
  • Cloase-range image information from drones and ground-based camera has been frequently used in the field of disaster mitigation with 3D modeling and mapping. In addition, the utilization of virtual reality(VR) is being increased by implementing realistic 3D models with the VR technology simulating disaster circumstances in large scale. In this paper, we created a VR training program by extracting realistic 3D models from close-range images from unmanned aircraft and digital camera on hand and observed several issues occurring during the implementation and the effectiveness in the case of a VR application in training for disaster mitigation. First of all, we built up a scenario of disaster and created 3D models after image processing with the close-range imagery. The 3D models were imported into Unity, a software for creation of augmented/virtual reality, as a background for android-based mobile phones and VR environment was created with C#-based script language. The generated virtual reality includes a scenario in which the trainer moves to a safe place along the evacuation route in the event of a disaster, and it was considered that the successful training can be obtained with virtual reality. In addition, the training through the virtual reality has advantages relative to actual evacuation training in terms of cost, space and time efficiencies.

Area Classification of Hazardous Gas Facility According to KGS GC101 Code (KGS GC101을 통한 가스시설 폭발위험장소의 설정)

  • Kim, Jeong Hwan;Lee, Min-Kyung;Kil, Seong-Hee;Kim, Young-Gyu;Ko, Young Kyu
    • Journal of the Korean Institute of Gas
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    • v.23 no.4
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    • pp.46-64
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    • 2019
  • Technical practice code, KGS GC101 2018, for explosion hazard area selection and distance calculation of gas facility was enacted and implemented from July 12, 2018. This code includes whole contents of IEC60079-10-1 2015 (Explosive atmospheres Part 10-1: Classification of areas - Explosive gas atmospheres), and clarifies the interpretation of ambiguous standards or adds guidelines for standards. KGS GC101 is a method for classifying explosion hazard place types: (1) Determination of leak grade (2) Determination of leakage hole size (3) Determination of leakage flow (4) Determination of dilution class (5) Determination of ventilation effectiveness, finally (6) Determination of danger place (7) Explosion The range of dangerous places can be estimated. In order to easily calculate this process, the program (KGS-HAC v1.14, C-2018-020632) composed by Visual Basic for Application (Excel) language was produced by Korea Gas Safety Corporation. We will discuss how to use codes and programs to select and set up explosion hazard zones for field users.

Software Package for Pipe Hydraulics Calculation for Single and Two Phase Flow (배관 유동의 주요 변수계산을 위한 소프트웨어 시스템의 개발)

  • Chang, Jaehun;Lee, Gunhee;Jung, Minyoung;Baek, Heumkyung;Lee, Changha;Oh, Min
    • Korean Chemical Engineering Research
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    • v.57 no.5
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    • pp.628-636
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    • 2019
  • In various industrial processes, piping serves as a link between unit processes and is an essential installation for internal flow. Therefore, the optimum design of the piping system is very important in terms of safety and cost, which requires the estimation of the pressure drop, flow rate, pipe size, etc. in the piping system. In this study, we developed a software that determines pressure drop, flow rate, and pipe size when any two of these design variables are known. We categorized the flows into single phase, homogeneous two phase, and separated two phase flows, and applied suitable calculation models accordingly. We also constructed a system library for the calculation of the pipe material, relative roughness, fluid property, and friction coefficients to minimize user input. We further created a costing library according to the piping material for the calculation of the investment cost of the pipe per unit length. We implemented all these functions in an integrated environment using a graphical user interface for user convenience, and C # programming language. Finally, we verified the accuracy of the software using literature data and examples from an industrial process with obtained deviations of 1% and 8.8% for the single phase and two-phase models.

Investigation on the Correlation of Cremation and Buddism in United Shilla-Era Focusing on Religious Acts of Building Temples and Stupas (통일신라시대의 화장과 불교와의 상호관련성에 대한 고찰 조사(造寺)·조탑(造塔)신앙과의 관련성을 중심으로)

  • Cha, Soon Chul
    • Korean Journal of Heritage: History & Science
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    • v.41 no.1
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    • pp.57-78
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    • 2008
  • According to the previous studies about Shilla's cremate grave, in the process of importing the cremate grave, there has been correlation with Chinese Buddhism, and there have been a lot of mentions about the change of the grave, Yinwha(Stamp) patterns and its existence, and about the characteristics of the vessels to contain the bones. The cremate grave is categorized into two-parts type and mono-type, depending on the dead person. The cremate graves that are in local areas such as Wang-Gyeong, show difference in types. The typical vessel to contain the bones, called "Yeongyeol Gori Yoogaeho" is again proved to have existed from A.D 8c. ~ A.D 9c., judging from the Yinwha pattern stamp's existence. Yet, the Yeongyeol Gori Yoogaeho from 9th century used the patternless pottery, also seen from the Won-wha 10 yeon-myeong cremate grave. Due to the prosperity of Buddhism, when the "Mukuchonggwang Taranikyong(Sutra)", translated into Han language in 704 at Dang, was imported into Shilla, the funeral ceremonies of Shilla people changed from making cremate graves with vessels or scattering the bones in oceans, into building stupas in temples with hopes and wishes to bring oneself and family's fortune and the next life of the dead. As a result, the meaning of "Grave" disappeared for the cremate graves, and rather the ceremony changed into scattering bones and wishing fortunes for the dead person. In other words, the ancestor-worship ceremony which was focused on the tomb changed into commemorating the ancestors and wishing individual fortunes by the religious assembly in temples and the building process of stupas. In conclusion, this social change was the cause of the extinction of stone chamber with tunnel entrance and the tombs such as cremate grave.

Implementation of Plastic Bottle Classification System for Recycling (분리수거를 위한 페트병 분리시스템의 구현)

  • Park, Yongha;Park, Jihoon;Chung, Hoyeong;Lee, Joosang;Lee, Jungyeop
    • Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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    • 2021.05a
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    • pp.365-368
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    • 2021
  • In this study, a plastic bottle recycling bin system that utilizes an infrared sensor was implemented. The proposed system consists of a recognition unit, a control unit, an alarm unit, and a driving unit. The recognition unit detects the plastic bottle, measures the distance between the plastic bottle and the infrared sensor, extracts the value of the bottle, compares the extracted value with a standard range, and then transmits the control value to the control unit if the extracted value of the bottle is outside the standard range. In this case, the result of the presence or absence of a brand label or bottle cap is transmitted to the controller. The control unit opens the entrance of the recycling bin or alerts the alarm unit according to the result value transmitted from the sensor unit. In order to implement the proposed system, the recognition unit was implemented with an infrared sensor, and the control unit was made with an Arduino IDE controller, based on the C programming language. Additionally, the recognition unit and the control unit are able to communicate using analog signals. The proposed system accurately judges the presence or absence of a brand label and bottle cap of plastic bottles according to a predetermined algorithm. It then blocks the entrance of the recycling bin when a brand label or bottle cap is still attached. As the amount of waste discharged per person is relatively high and the majority of such waste is incinerated rather than recycled, the system proposed in this study is expected to increase the recycling rate of plastic bottles.

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A Modified grid-based KIneMatic wave STOrm Runoff Model (ModKIMSTORM) (I) - Theory and Model - (격자기반 운동파 강우유출모형 KIMSTORM의 개선(I) - 이론 및 모형 -)

  • Jung, In Kyun;Lee, Mi Seon;Park, Jong Yoon;Kim, Seong Joon
    • KSCE Journal of Civil and Environmental Engineering Research
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    • v.28 no.6B
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    • pp.697-707
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    • 2008
  • The grid-based KIneMatic wave STOrm Runoff Model (KIMSTORM) by Kim (1998) predicts the temporal variation and spatial distribution of overland flow, subsurface flow and stream flow in a watershed. The model programmed with C++ language on Unix operating system adopts single flowpath algorithm for water balance simulation of flow at each grid element. In this study, we attempted to improve the model by converting the code into FORTRAN 90 on MS Windows operating system and named as ModKIMSTORM. The improved functions are the addition of GAML (Green-Ampt & Mein-Larson) infiltration model, control of paddy runoff rate by flow depth and Manning's roughness coefficient, addition of baseflow layer, treatment of both spatial and point rainfall data, development of the pre- and post-processor, and development of automatic model evaluation function using five evaluation criteria (Pearson's coefficient of determination, Nash and Sutcliffe model efficiency, the deviation of runoff volume, relative error of the peak runoff rate, and absolute error of the time to peak runoff). The modified model adopts Shell Sort algorithm to enhance the computational performance. Input data formats are accepted as raster and MS Excel, and model outputs viz. soil moisture, discharge, flow depth and velocity are generated as BSQ, ASCII grid, binary grid and raster formats.

A Construction of the C_MDR(Component_MetaData Registry) for the Environment of Exchanging the Component (컴포넌트 유통환경을 위한 컴포넌트 메타데이타 레지스트리 구축 : C_MDR)

  • Song, Chee-Yang;Yim, Sung-Bin;Baik, Doo-Kwon;Kim, Chul-Hong
    • Journal of KIISE:Computing Practices and Letters
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    • v.7 no.6
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    • pp.614-629
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    • 2001
  • As the information-intensive society in 21c based on the environment of global internet is promoted, the software is getting more large and complex, and the demand for the software is increasing briskly. So, it becomes an important issue in academic and industrial field to activate reuse by developing and exchanging the standardized component. Currently, the information services as a product type of each company are provided in foreign market place for reusing a commercial component, but the components which are serviced in each market place are different, insufficient and unstandardized. That is, construction for Component Data Registry based on ISO 11179, is not accomplished. Hence, the national government has stepped up the plan for sending out public component at 2001. Therefore, the systems as a tool for sharing and exchange of data, have to support the meta-information of standardized component. In this paper, we will propose the C_MDR system: a tool to register and manage the standardized meta-information, based upon ISO 11179, for the commercialized common component. The purpose of this system is to systemically share and exchange the data in chain of acceleration of reusing the component. So, we will show the platform of specification for the component meta-information, then define the meta-information according to this platform, also represent the meta-information using XML for enhancing the interoperability of information with other system. Moreover, we will show that three-layered expression make modeling to be simple and understandable. The implementation of this system is to construct a prototype system of the component meta-information through the internet on www, this system uses ASP as a development language and RDBMS Oracle for PC. Thus, we may expect the standardization of the exchanged component metadata, and be able to apply to the exchanged reuse tool.

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A Study on the Planning of Nationwide Indexing Services for Korea (전국색인지간행협동체제 편성방안에 관한 연구)

  • Choi Sung Jin
    • Journal of the Korean Society for Library and Information Science
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    • v.12
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    • pp.39-86
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    • 1985
  • The main purpose of the present study is to survey the major iudexing bulletins of national nature in Korea, to define such problem areas as lacunae, duplicates and limitation in coverage in the indexing services currently available in Korea, and to make some suggestions for action for improving the existing indexing services in the light of general principles and the tradition and constraints unique to Korea. The major findings and conclusions reached at this study are summarised as follows: (A) A new indexing bulletin of general nature covering the entire field needs to be created in each of the following fields without an established indexing service available for the outcome of research and development activities in Korea. (1) Philosophy (2) Religion (3) Pure sciences (4) Art (5) Language (6) Literature (7) History (B) A new specialised indexing bulletin needs to be created in each of the following fields where indexing services are heavily utilised but no, or only partial, indexing service is available. (1) Social sciences (a) Statistics (b) Sociology (c) Folklore (d) Military science (2) Pure sciences (a) Mathematics (b) Physics (c) Chemistry (d) Astronomy (e) Geology (f) Mineralogy (g) Life sciences (h) Botany (i) Zoology (3) Applied sciences (a) Medicine (b) Agriculture (c) Civil engineering (d) Architectural engineering (e) Mechanical engineering (f) Electrical engineering (g) Chemical engineering (h) Domestic science (C) Publication of the indexing bulletins suggested in A and B above may be ideally carried on by a qualified and dependable learned society established in the respective fields and designated by the Minister of Education, and should be financially supported from the public fund under the provisions of Art. 27 of the Scientific Research Promotion Act of 1979. (D) The coverage and contents of the four indexing bulletins in the field of banking and financing published by the Library of the Bank of Korea are similar and considerably duplicated. It is, therefore, suggested that the four indexing bulletins are combined in one to form a more comprehensive and efficient bibliographical tool in the field and it is further developed into a general guide to the literature produced in the entire field of economics in Korea by gradually expanding its subject coverage. (E) For the similar reasons stated in D, the Index to the Articles on North Korea and the Catalogue of Theses on North Korea, both publisheds by the Ministry of Unification Library, are suggested to make into one. The Index to the Articles of the Selected North Korean Journals and the Index to the Articles of the North Korean Journals in Microfilm Housed in the Ministry of Unification Library, both published by the same Library, are also suggested to be combined in one. (F) The contents of the Catalogue of the Reports Submitted by Government Officials Who Have Travelled Abroad, published by the National Archives are included in the Index to the Information Materials Related to Government Administration, published by the National Archives. The publication of the former is hardly justified. (G) The contents of the Index to Legal Literature published by the Seoul National University Libraries and those of the Law Section of the Index to Scholastic Works published by the National Central Library are nearly identical. One of the two indexes should cease to be published. (H) Though five indexes are being published in the field of political science and four in the field of public administration, their subject coverage is limited. Naturally, these indexes are little usable to many other researchers in the two fields. A comprehensive index covering all the specialised areas in each field needs to be developed on one or all the existing indexes. (I) It is suggested that the Catalogue of the Scholastic Works on Curricula published by the National Central Library expands its subject coverage to become a more usable and effective index to all the researchers in the field of education. (J) The bimonthly Index to Periodical Articles and the specialised index by subject series published by the National Assembly Library, and the Index to Scholastic Works published by the National Central Library are expected to increase their coverage and frequency of publication to be used more effectively and more efficiently by all users in all fields till the indexing bulletins suggested in this study will fully be available in Korea.

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