• 제목/요약/키워드: usefulness testing

검색결과 213건 처리시간 0.017초

Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel

  • Lee, Eun Hye
    • Clinical and Experimental Pediatrics
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    • 제61권4호
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    • pp.101-107
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    • 2018
  • Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy. Here, several early infantile epilepsy syndromes with strong genetic associations are briefly reviewed, and their genotype-phenotype correlations are summarized. Because the clinical presentations of these disorders frequently overlap and have heterogeneous genetic causes, next-generation sequencing (NGS)-based gene panel testing represents a more powerful diagnostic tool than single gene testing. As genetic information accumulates, genetic testing will likely play an increasingly important role in diagnosing pediatric epilepsy. However, the efforts of clinicians to classify phenotypes in nondiagnosed patients and improve their ability to interpret genetic variants remain important in the NGS era.

병렬 TTCN을 이용한 멀티 파티 프로토콜 적합성 시험 (Multi-pary protocol conformance testing using concurrent TTCN)

  • 손홍세;이병각;양대헌;송주석
    • 한국통신학회논문지
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    • 제22권2호
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    • pp.280-290
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    • 1997
  • The Single TTCN has been broadly used to describe the ATS(Abstract Test Suite) for the protocol confronance testing. But if the single TTCN is used to test the multi-party protocol with the non-deterministic factors, then huge amount of test notations are needed and also it is hard to understand the ATS. Therefore, the concurrent TTCN was proposed to solve these problems and the study in progress. In this paper, we did investigate and compare the characteristics of esisting single TTCN with those of the concurrent TTCN. In order to develop the ATS of the Q.2971 which is B-ISDN call/connection control protocol, the testing model was defined and the concurrent factors were extracted according to that model. As a result, we could verify the usefulness of the confcurrent TTCN.

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K개 지수분포의 상등에 관한 베이지안 다중검정 (Bayesian Testing for the Equality of K-Exponential Populations)

  • 문경애;김달호
    • Journal of the Korean Data and Information Science Society
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    • 제12권1호
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    • pp.41-50
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    • 2001
  • 독립이면서 지수분포를 따르는 K개 모집단의 평균차이에 대한 가설 검정방법으로 Beregr와 Perrichi (1996, 1998)가 제안한 내재적 베이즈 요인을 이용한 베이지안 방법을 제안한다. 이 때 모수에 대한 사전분포로는 무정보적 사전분포를 사용한다. 모의실험을 통하여 제안한 검정방법의 유용성을 알아본다.

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부분 베이즈요인을 이용한 로그정규분포의 상등에 관한 베이지안검정 (Bayesian Testing for the Equality of Two Lognormal Populations with the fractional Bayes factor)

  • 문경애;김달호
    • Journal of the Korean Data and Information Science Society
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    • 제12권1호
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    • pp.51-59
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    • 2001
  • 독립이면서 로그정규분포를 따르는 두 모집단의 평균 차이에 대한 검정으로 O'Hagan (1995)이 제안한 부분 베이즈요인을 이용한 베이지안 방법을 제안한다. 이 때 모수에 대한 사전분포로는 무정보적 사전분포를 사용한다. 제안한 검정 방법의 유용성을 알아보기 위하여 실제 자료의 분석과 모의실험을 이용하여 고전적인 검정방법과 그 결과를 비교한다.

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로그정규분포의 상등에 관한 베이지안 검정 (Bayesian Testing for the Equality of Two Lognormal Populations)

  • 문경애;신임희;김달호
    • Journal of the Korean Data and Information Science Society
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    • 제11권2호
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    • pp.269-277
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    • 2000
  • 독립이면서 로그정규분포를 따르는 두 모집단의 평균 차이에 대한 검정으로 Berger와 Pericchi(1996, 1998)가 제안한 내재적 베이즈 요인(intrinsic Bayes factor)을 이용한 베이지안 방법을 제안한다. 이 때 모수에 대한 사전분포로는 무정보적 사전분포(noninformative prior)를 사용한다. 제안한 검정 방법의 유용성을 알아보기 위해 실제 자료의 분석과 모의실험을 이용하여 고전적인 검정 방범과 그 결과를 비교한다.

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A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report

  • So, Min-Kyung;Huh, Jungwon;Kim, Hae Soon
    • Journal of Genetic Medicine
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    • 제18권2호
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    • pp.132-136
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    • 2021
  • Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease with a family history of diabetes and negative autoantibodies and may present with heterogeneous phenotypes according to the different subtypes. Here, we report a patient with early-onset diabetes who presented asymptomatic mild fasting hyperglycemia with the absence of autoantibodies. She was diagnosed with glucokinase (GCK)-MODY caused by a GCK variant, c.1289T>C (p.L430P), identified by targeted gene-panel testing, and the affected father had the same variant. We interpreted this rare missense variant as a likely pathogenic variant and then she stopped taking oral medication. This case highlights the usefulness of gene-panel testing for accurate diagnosis and appropriate management of MODY. We also note the importance of familial genetic testing and genetic counseling for the proper interpretation of MODY variants.

객체 지향 접근을 통한 LDAP 상호운용성 시험도구 구현 (Implementation of the LDAP interoperability testing tool with object-oriented approach)

  • 김연수;이숭희;이종협
    • 한국통신학회논문지
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    • 제30권5B호
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    • pp.247-252
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    • 2005
  • 현재 국외의 LDAP (Light-weight Directory Access Protocol) 상호운용성 시험을 위한 시험 도구가 있으나 이들은 소스가 개방 되어 있지 않아 시험 환경에 맞추기 위한 시험 항목의 수정이 어렵고, 차후 새로운 시험 항목의 추가 또한 힘든 상황이다. 그러므로 새로운 시험 도구에서는 개발 시간 단축과 시험 항목의 추가 및 변경의 용이성을 위해 객체지향 접근이 요구된다. 따라서 객체 지향 접근을 위해 객체 지향 언어인 자바를 이용해 시험도구를 구현하였다. 구현한 시험도구는 시험 항목 정보 중에서 이미 저장되어 있는 데이터에 알맞게 일부를 수정하여 시험이 가능하다. 또한 한번의 동일한 설정으로 최대 5개의 LDAP 서버를 동시에 시험 가능하다. 구현한 시험도구를 사용하여 두 대의 LDAP 서버를 대상으로 상호운용성 시험을 수행한 결과 정상적으로 동작됨을 확인하였으며, 시험 환경에 알맞도록 시험항목의 변경과 새로운 시험 항목의 추가가 용이함을 확인하여, 설계한 아키텍처의 유용성을 검증하였다.

요검사: 요시험지봉 검사의 유용성과 한계 (Urinalysis: The Usefulness and Limitations of Urine Dipstick Testing)

  • 한태희
    • Childhood Kidney Diseases
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    • 제17권2호
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    • pp.42-48
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    • 2013
  • 소변검사는 신장질환과 기타전신질환의 진단에 매우 중요한 검사이다. 요시험지봉검사을 이용하면 짧은 시간에 소변의 여러 가지 화학 성상(pH, 비중, 단백, 당, 케톤체, 잠혈, 빌리루빈, 우로빌리노겐, 아질산염, 백혈구-에스테라제)을 동시에 검사할 수 있다. 요시험지봉검사는 관련된 화학반응이 복잡하여 소변에 존재하는 산화물질, 환원물질, 착색물질의 영향을 받을 수 있어 위양성 위음성 반응이 흔히 발생한다. 요시험지봉검사로 신뢰할 수 있는 결과를 얻기 위해서는 검체를 깨끗하게 채집하고 주의를 기울여 검사해야 하며 요시험지봉검사 결과를 제대로 이용하기 위해서는 검사의 원리를 잘 이해할 필요가 있다. 요시험지봉검사에서 혈뇨, 단백뇨, 요로감염이 의심되면 확진을 위해 요검경검사를 실시하여야 한다.

전자정부 서비스의 지속적 수용 강화를 위한 통합적 접근 : 실증연구 (An Integrative Approach for Strengthening Continual Adoption of e-Government Services : An Empirical Study)

  • 임세헌
    • Journal of Information Technology Applications and Management
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    • 제20권1호
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    • pp.19-41
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    • 2013
  • This study analyzed the users acceptance of e-Government services. Many IT(Information Technology) adoption studies appeared the TAM(technology adoption model) of Davis[1989] as a theoretical background. The TAM composed of three factors those are the perceived easy of use, the perceived usefulness, and intention to adoption of IT. However, TAM did not explain the consequences of intention to adoption and antecedents of the ease of use and usefulness in IT adoption. To overcome limitations of TAM, many technology acceptance studies done. In this study, the researcher suggested the IT acceptance model for explaining users adoption of e-Government service based on the model of IT acceptance of Wixom and Todd[2005]. The model of Wixom and Todd[2005] based on the TAM of Davis[1989], IT adoption model of Taylor and Todd[1995] and, IS(Information Systems) success model of Delone and Mclean[1992, 2003]. For testing our research model, the researcher collected data from 200 users of e-Government services. The researcher analyzed in measurement model and structural model using statistical software. This study analyzed relationships among interaction, information quality, Web systems quality, satisfaction, ease of use, usefulness, and attitude to explain and predict influences of the users acceptance of e-Government services. The results of this study will provide useful information about develop a strategy for usage spread of e-Government services.

소비자의 프로슈머 성향이 인터넷 패션사이트의 구전효과에 미치는 영향 (The Effect of Consumer's Prosumer Propensity on the WOM Effect of Fashion Website)

  • 홍금희
    • 한국의류산업학회지
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    • 제14권1호
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    • pp.75-82
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    • 2012
  • Compared to off-line, on-line word-of-mouth has fast dissemination speed and extensive effects based on interactive features. Moreover, in the age of Web 2.0, on-line media has made consumers evolve from simple purchasers to producers, who intervene into product manufacturing through on-line WOM. According to this, this study is conducted to clarify how consumer's prosumer propensity affects WOM in detail when purchasing fashion products on-line through website interactivity and perceived usefulness of WOM. The results are as follows. 1. Consumer's prosumer propensity is classified in four dimensions: the propensity to participate, the propensity to relate, the propensity to amuse and the propensity to create. 2. The sample has shown low prosumer propensity overall, and there were no gender differences. 3. Testing structural equation model, it was clarified that the higher the consumer's prosumer propensity, the higher the consumer's evaluation of website interactivity and thus the greater the WOM effect through its perception of usefulness. 4. There were some differences in the path of structural equation model according to consumer's prosumer propensity. From the results, it can be concluded that consumer's prosumer propensity is a key factor in the on-line WOM. Therefore fashion businesses should actively utilize consumer's prosumer propensity to apply their opinion in the product planning stage or use it as the means of company-friendly viral marketing.