• 제목/요약/키워드: Non-targeted analysis

검색결과 130건 처리시간 0.025초

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing

  • Chang, Mun Young;Kim, Ah Reum;Kim, Nayoung K.D.;Lee, Chung;Lee, Kyoung Yeul;Jeon, Woo-Sung;Koo, Ja-Won;Oh, Seung Ha;Park, Woong-Yang;Kim, Dongsup;Choi, Byung Yoon
    • Molecules and Cells
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    • 제38권9호
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    • pp.781-788
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    • 2015
  • Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the myosin motor and IQ2 domains, respectively. The p.L1291F variant was predicted to affect the structure of the actin-binding site from three-dimensional protein modeling, thereby interfering with the correct interaction between actin and myosin. From the literature analysis, mutations in the N-terminal domain were more frequently associated with residual hearing at low frequencies than mutations in the other regions of this gene. Therefore we suggest a hypothetical genotype-phenotype correlation whereby MYO15A mutations that affect domains other than the N-terminal domain, lead to profound SNHL throughout all frequencies and mutations that affect the N-terminal domain, result in residual hearing at low frequencies. This genotype-phenotype correlation suggests that preservation of residual hearing during auditory rehabilitation like cochlear implantation should be intended for those who carry mutations in the N-terminal domain and that individuals with mutations elsewhere in MYO15A require early cochlear implantation to timely initiate speech development.

유통업체의 정보물류시스템 아웃소싱 유형과 물류성과에 관한 실증연구 (An Empirical Study of Logistics Performance and Outsourcing Types of Korean Distributors)

  • 유창권
    • 유통과학연구
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    • 제12권4호
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    • pp.41-46
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    • 2014
  • Purpose - This study focused on providing strategic findings that make significant sense for companies that are looking for a future outsourcing strategy. The study analyzes the results of outsourcing in the information logistics systems field and verifies the results through experimental study of the performance delivered by logistics outsourcing types. Research design, data, and methodology - The study sample was assembled based on a random sampling method used to extract the initial 451 companies from a list of Korean distributors, wholesalers, and retailers. Following that sample process, 423 companies were confirmed by verifying their e-mail address and contacts (telephone and fax numbers), and were selected as initial research subjects. We reduced that number to 331 companies for the survey sample through telephone interviews in advance with the 423 companies that were targeted, in order to verify whether they are in the field of outsourcing of information logistics systems. The period of the survey extended from November 10, 2013 to January 10, 2014. The number of collected surveys totaled 181. We reviewed the contents of the survey responses, and reduced the number of research subjects to 175. In this study, we used a standard analysis to investigate whether there is a difference in distribution results based on different types of outsourcing information in the logistics system field and, through T-verification, we investigated whether the difference between distribution results in each group resulting from that standard analysis is statistically significant. Results - These results show that there is a difference in distribution outcome, based upon type of distribution outsourcing. In addition, we determined that they are meaningful results by confirming that, for usability and to improve the capabilities of a third-party logistics service supplier, both the choice of reasonable outsourcing types and the enhancement of various types of alliances are very important success factors. Taken together these study results, with a goal of enhancing the distribution capabilities of a Korean distributor, can be implemented to enhance management results achievable by supplying an information logistics system in the form of strategic outsourcing rather than in the form of simple outsourcing. In addition, the outcomes of logistics distributors in Korea that are using outsourcing in the logistics information systems field show high performance results in commercial endeavors in the following order: competitive, pre-competitive, non-competitive, and pro-competitive. Conclusions - This study focused on providing strategic findings. However, in the case of outsourcing in the field of information logistics systems of Korean distributors, there has been a focus on simple outsourcing rather than on strategic outsourcing; furthermore, there has been a concentration on non-competitive forms instead of pro-competitive forms, which could achieve better distribution results. This discussion is presented in more detail in the analysis results of this study.

자율공시수준과 회계이익의 질이 감사보수 및 감사시간에 미치는 영향 (The Effect of Voluntary Disclosure Level and Accounting Quality on Audit Fees and Audit Hours)

  • 정설희
    • 한국융합학회논문지
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    • 제9권4호
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    • pp.169-177
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    • 2018
  • 본 연구의 목적은 자율공시수준이 감사인의 감사보수 및 감사시간에 어떻게 영향을 미치는지 실증적으로 분석하고, 추가적으로 둘 간의 관계가 회계이익의 질에 따라 달라지는지 확인하고자 한다. 분석을 위한 최종표본은 2007년부터 2013년까지의 유가증권상장기업을 대상으로 감사보수(감사시간)는 4,572개(4,460개)의 기업/년 자료가 활용되었다. 본 연구의 실증분석결과는 다음과 같다. 첫째, 자율공시기업은 자율공시를 수행하지 않은 기업에 비해 감사인의 감사보수가 높은 것으로 나타났고, 자율공시기업만을 대상으로 한 경우에도 같은 결과가 나타났다. 둘째, 자율공시기업은 그렇지 않은 기업에 비해 감사인의 감사시간이 유의하게 증가하는 것으로 나타났고, 이러한 결과는 자율공시기업만을 대상으로 분석한 경우에도 일치된 결과가 나타났다. 셋째, 자율공시기업의 회계이익의 질이 좋지 못한 경우 감사인의 감사보수는 유의하게 낮아진 반면, 자율공시기업을 대상으로 한 경우에는 관련성이 확인되지 않았다. 넷째, 자율공시기업의 회계이익의 질이 나쁜 경우에는 감사인이 감사시간을 덜 투입하는 것으로 확인되었지만, 자율공시기업만을 대상으로 분석한 경우에는 이와 같은 사실이 확인되지 않았다. 본 연구는 자율공시수준에 따라 감사인의 감사위험이 달라진다는 사실을 감사보수 및 감사시간 측면에서 살펴보았다는 점에서 의의가 있다.

한국인의 폐선암 유전자 돌연변이: 차세대 염기서열 분석법을 이용한 검출 및 기존 유전자 검사법과의 일치도 분석 (Lung Adenocarcinoma Gene Mutation in Koreans: Detection Using Next Generation Sequence Analysis Technique and Analysis of Concordance with Existing Genetic Test Methods)

  • 백재하;조규봉
    • 대한임상검사과학회지
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    • 제55권1호
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    • pp.16-28
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    • 2023
  • 폐암은 크게 소세포성 폐암과 비소세포성 폐암으로 구분되며 비소세포성폐암이 차지하는 비율은 약 70%~80%이다. 비소세포성폐암 중 폐선암은 전체 폐암의 약 40%를 차지한다. 최근 유전자 프로파일링 기술이 발전하면서 종양의 발생 및 성장에 중요한 종양 유전자와 종양 억제 유전자의 변이에 대한 연구가 활발히 진행되어 폐암을 유발하는 특정 유전자들이 발견되면서 생존율에 큰 영향을 미치게 되었으며 특히 폐선암은 차세대 염기서열 분석법(next generation sequencing, NGS)을 이용한 동반진단을 통해 표적 치료로 생존을 높이는 데 도움을 얻을 수 있다. 본 연구는 한국인에서 폐선암을 유발하는 유전자 변이 검출을 위해 비소세포성폐암 환자의 파라핀 포매조직(formalin-fixed paraffin-embedded)으로 hematoxylin and eosin 염색을 시행하여 폐선암을 구분하였으며 정확한 폐선암 조직을 분류하기 위해 면역조직화학(immunohistochemistry, IHC)염색을 시행하였다. 그 결과를 바탕으로 NGS를 이용하여 유전자 변이의 종류와 패턴을 분석하였고 폐암을 유발하는 가장 대표적인 원인인 흡연과의 관계를 확인하였다. NGS 결과 단일염기서열변이(single nucleotide variation, SNV), 복제수변이 (copy number variation, CNV), 유전자 재배열을 확인하였으며 폐선암에서 SNV는 TP53 (44.6%), EGFR (35.7%), KRAS (10.7%), PIK3CA (6.2%), CDKN2A (4.4%) 순으로 발생하였고 CNV의 경우 EGFR (14%)이 가장 빈번하게 발생하였다. 또한 ALK, ROS1, RET 과 같은 유전자 재배열을 확인하였다. NGS의 신뢰도를 확인을 위하여 기존에 사용되고 있는 유전자 검사방법인 PCR-EGFR, IHC-ALK (D5F3), FISH-ROS1 검사를 추가적으로 시행하여 NGS 결과와 일치도를 확인하였다. 이 연구는 폐선암 환자에 대한 NGS가 여러 유전자의 돌연변이를 동시에 확인하여 치료 전략에 더욱 긍정적인 이익을 줄 수 있음을 보여준다.

Relationship of Smoking with Self-perceived Health and Selected Health Behaviors

  • Choi Eun-Jin
    • 보건교육건강증진학회지
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    • 제21권4호
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    • pp.35-49
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    • 2004
  • The purpose of this study was to analyze variables associated with smoking and selected health behaviors. This study targeted adult men and women over 20 of age. The sample population was drawn from the national sample, and the samples were chosen from the telephone book. A total of 1,500 cases were collected through a telephone based interview survey. As a tool for this study, a structured questionnaire was developed. the variables included self-perceived health status, and selected 7 health behaviors; smoking behavior, physical activities, eating habit, weight control, alcohol consumption, stress management, and cancer exam. The healthy life practice actions of Trans-theoretical model have been classified into five stages. Smokers were more likely than non-smokers to positive attitudes toward smoking and the impact of smoking in this study. This means that smokers's awareness toward the impact of smoking is very week. Smoking behavior was significantly related to other health related behaviors based on the correlation analysis. However, gender, engaging in regular physical activities, moderate consumption of alcoholic beverages, and receiving a cancer examination were the variables that can explain and predict a person's stages of adopting a non-smoking behavior. Self perceived health status was closely related to other health behaviors. Gender, age, and monthly household income were important demographic variables that have significant relationship with the self-perceived health status. Among the health behaviors, regular physical activities and weight control were significant predictable variables. Similar results have been found in the National health and Nutrition examination survey in Korea. As a result of this study, it was found that among the selected health behaviors, engaging in physical activity was an important variable to increase positive sense of health and non-smoking behaviors. Educational and policy level input is needed to increase awareness and provide chances to participate in fitness activities. To those who maintain exercise, the environmental support and diffusion of knowledge information and education data should be strengthened. To change attitudes toward smoking, more in-dept awareness campaign and education should be provided according to people's different behavioral status. In addition, not only diffusing health education data and delivering knowledge information through related programs, but also environmental support system that helps an individual maintain his/her action is required. Such a support system means settlement of the health enhancement base of school, workplace and community should be carried out, and the policy level support and regular programs should be provided and spread to the unit of community.

비이온성 혼합계면활성제를 이용한 O/W 유화액의 제조 : CCD-RSM을 이용한 최적화 (Emulsification of O/W Emulsion Using Non-ionic Mixed Surfactant: Optimization Using CCD-RSM)

  • 이승범;리광종;줘청량;홍인권
    • 공업화학
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    • 제30권5호
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    • pp.606-614
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    • 2019
  • 본 연구에서는 palm oil과 서로 다른 HLB (hydrophile-lipophilie balance) value를 갖는 Tween-Span계 비이온성 계면활성제를 혼합하여 O/W (oil in water) 유화액을 제조하고, 유화액의 유화안정성을 향상시키기 위한 최적 유화조건을 결정하였다. 이를 위해 CCD-RSM (central composite design model-response surface methodology)을 이용하여 각 계량인자의 주효과 및 교호효과를 해석하였으며, 두 가지 반응치를 동시에 만족하는 최적조건을 결정하였다. CCD-RSM의 계량인자로는 유화시간, 유화속도, HLB value, 계면활성제의 첨가량 등을 설정하고, 반응치로는 O/W 유화액의 점도와 평균액적크기를 설정하였다. CCD-RSM 최적화 분석결과 반응치인 O/W 유화액이 점도와 평균액적크기의 목표치를 동시에 부합하는 최적조건은 유화시간(12.7 min), 유화속도(5,551 rpm), HLB value (8.0), 계면활성제의 첨가량(5.7 wt.%)으로 산출되었으며, 이 조건에서의 CCD-RSM 예측결과는 점도(1,551 cP)와 평균액적크기(432 nm)이었다. 이 조건의 실제 실험 결과 오차율은 2.5% 이하로 나타나 O/W 유화액 제조과정에 CCD-RSM 최적화 분석을 적용할 경우 비교적 높은 유의수준의 만족하는 결과를 얻을 수 있었다.

중소기업의 현지브랜드 개발과 브랜드 컨설팅 프레임워크: 정부지원프로그램을 중심으로 (Local brands development and brand consulting framework for SMEs: Governmental supporting programs)

  • 김귀곤
    • 한국산학기술학회논문지
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    • 제11권5호
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    • pp.1845-1855
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    • 2010
  • 해외진출기업의 브랜드 개발을 위한 브랜드 컨설팅은 현지의 시장 및 소비자 분석, 그리고 기업의 역량 및 자원에 대한 진단을 포함한 내외부의 환경 분석에서부터, 브랜드 전략의 수립, 브랜드 컨셉의 개발, 그리고 디자인 개발에 이르기 까지 제품의 해외 런칭 이전에 선행되는 많은 단계들을 포함하는 개념이다. 따라서 해외진출 브랜드 컨설팅은 브랜드에 대한 전문성을 바탕으로 한 국제마케팅, 디자인, 그리고 국내외 상표권 전문가들의 공동노력이 이루어질 때만이 성공적인 수행이 가능하다고 할 수 있다. 본 연구는 해외진출기업의 브랜드 개발, 특히 기업역량이 대기업들에 비해 상대적으로 더 적은 것으로 평가되는 중소기업의 비영어권 국가 진출 시 현지브랜드 개발을 지원하기 위한 브랜드 컨설팅 프레임워크를 제시하기 위해서 진행되었다. 본 연구는 중소기업들을 대상으로 현지브랜드에 대한 수요조사 결과를 포함한다. 그리고 다년간에 걸친 시행착오를 거쳐 현장에서 이루어진 브랜드 컨설팅 프레임워크는 현지브랜드 컨설팅을 수행하는 브랜드 전문가뿐만 아니라 해외진출 브랜드 컨설팅을 의뢰하는 중소기업들에게도 상당히 의미 있는 지침이 되리라고 기대한다.

Mutational Analysis of Key EGFR Pathway Genes in Chinese Breast Cancer Patients

  • Tong, Lin;Yang, Xue-Xi;Liu, Min-Feng;Yao, Guang-Yu;Dong, Jian-Yu;Ye, Chang-Sheng;Li, Ming
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권11호
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    • pp.5599-5603
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    • 2012
  • Background: The epidermal growth factor receptor (EGFR) is a potential therapeutic target for breast cancer treatment; however, its use does not lead to a marked clinical response. Studies of non-small cell lung cancer and colorectal cancer showed that mutations of genes in the PIK3CA/AKT and RAS/RAF/MEK pathways, two major signalling cascades downstream of EGFR, might predict resistance to EGFR-targeted agents. Therefore, we examined the frequencies of mutations in these key EGFR pathway genes in Chinese breast cancer patients. Methods: We used a high-throughput mass-spectrometric based cancer gene mutation profiling platform to detect 22 mutations of the PIK3CA, AKT1, BRAF, EGFR, HRAS, and KRAS genes in 120 Chinese women with breast cancer. Results: Thirteen mutations were detected in 12 (10%) of the samples, all of which were invasive ductal carcinomas (two stage I, six stage II, three stage III, and one stage IV). These included one mutation (0.83%) in the EGFR gene (rs121913445-rs121913432), three (2.50%) in the KRAS gene (rs121913530, rs112445441), and nine (7.50%) in the PIK3CA gene (rs121913273, rs104886003, and rs121913279). No mutations were found in the AKT1, BRAF, and HRAS genes. Six (27.27%) of the 22 genotyping assays called mutations in at least one sample and three (50%) of the six assays queried were found to be mutated more than once. Conclusions: Mutations in the EGFR pathway occurred in a small fraction of Chinese breast cancers. However, therapeutics targeting these potential predictive markers should be investigated in depth, especially in Oriental populations.

크로스미디어 스토리텔링 사례 연구 -웹툰 <미생>의 드라마 <미생>으로의 재매개- (A Case Study of Cross-Media Storytelling : Remediation of Webtoon to Drama Series )

  • 김미라
    • 한국콘텐츠학회논문지
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    • 제15권8호
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    • pp.130-140
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    • 2015
  • 미디어 플랫폼이 증가하고 콘텐츠 시장의 경쟁이 치열해지면서 성공한 콘텐츠를 다른 미디어 장르로 재매개하는 크로스미디어 스토리텔링이 주목을 받고 있다. 특히 웹툰이 원천 콘텐츠(source genre)로 급부상하고 있는 가운데 본 연구는 웹툰 <미생>이 TV드라마로 재매개 되는 과정에서 어떤 방식으로 서사가 확장되고 개조되었는지 분석하고, 이러한 변형을 불러온 미디어의 특성과 수용자와의 관련성을 논의하였다. 분석결과 상대적으로 특정 대상층을 목표로 하는 웹툰 <미생>이 바둑의 기보를 바탕으로 종합상사 비정규직 계약사원을 중심으로 직장인의 삶과 애환을 담담하게 그려냈다면, 보다 폭넓은 시청자를 확보해야 하는 TV드라마에서는 사회적 이슈가 되고 있는 '비정규직의 애환', '직장내 성차별과 성희롱', '워킹맘의 애환' '신입 동기들간의 로맨스' 등 대중적 서사를 강화한 '확장' 전략을 사용하였다. 또 극적 재미를 위해 명확히 선악이 구분되는 인물 구도를 통한 갈등의 고조, 휴머니즘과 희극성의 강화를 드라마의 스토리텔링 전략으로 사용하였다.

두부전방전위자세에서 두개척추각과 자세변화에 따른 폐활량의 차이 (Difference of Vital Capacity According to Cranio-Vertebral Angle and Posture Change of Forward Head Posture People)

  • 김지연;박은지;유지민;이명희
    • 대한물리치료과학회지
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    • 제25권1호
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    • pp.44-51
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    • 2018
  • Background: In this paper, the relationship between the Cranio-Vertebral Angle (CVA) and the vital capacity in each position is reviewed, and the vital capacity in the position is studied. Methods: This study targeted 20 non-smoking female students of U university, which is located in Gyeongju-si. To review the Forward Head Posture (FHP) of each subject, CVA was measured, and FVC, FEV1, and FEF (25-75%) were measured and analyzed using a spirometer. Subjects were ordered to exhale three times with ease and then inhale up to their total lung capacity. After then, they were requested to exhale longer than six seconds. Then the inspiration and expiration were repeated. The measurement was executed in three positions, including supine, prone, and sitting. In each position the measurement was repeated twice, and a one-minute break was given between each cycle, so it was measured six times in total. SPSS 14.0 for Windows was used to analyze the data. The subjects' general properties were analyzed using descriptive statistics, and the correlation between the angle and the respiration variable result in each position was analyzed. The result of the respiration variable in each position was analyzed using the one-way ANOVA, and then a Scheffe post-hoc comparison was executed. Results: According to the analysis result of the correlation between the angle and respiration variable in each position, the sitting position and FEF (25-75%) showed a positive correlation (P<0.05). The respiration variable in each position showed a significant difference in FVC (p<0.05), and the Scheffe post-hoc comparison differed in prone and sitting positions. Conclusion: To increase the FVC of FHP patients, different exercises for each position can be applied, and the result of this study can be utilized as background data for further research.