• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.24-28
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• 2023

Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.

• Journal of the Korean Statistical Society
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• 제26권4호
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• pp.453-465
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• 1997

The family of power-divergence statistics conditional on margins is considered for testing homogeneity of .tau. multinomial populations with equal sample size and the exact Bahadur slope is obtained. It is shown that the likelihood ratio test conditional on margins is the most Bahadur efficient among the family of power-divergence statistics.

• 대한영양사협회학술지
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• 제12권4호
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• pp.350-357
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• 2006

The purpose of this study was to analyze the dietary behaviors and food intake patterns by sex, based on the data of nutrition counseling of health medical examination. The subjects were 5811(3258 males and 2553 females) of groups taken comprehensive medical testing in Gyeonggi area, and the total period was from January 1, 2005 through December 31, 2005. The subjects are composed of 56.1% male and 43.9% female. The results of this study show that of the females group were higher than those of the males in the case of dietary patterns. The averages intakes of milk products and beverages were significantly higher in male. Animal food intake ratio in the meal was significantly higher in male. In view of these facts, the relation factors of nutrients intakes may vary by sex. The averages of nutrients intakes were higher in male compared to female. Therefore, appropriate nutritional education should be conducted so that they have a healthy dietary habit.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.100-104
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• 2011

유전자 검사는 생명과학의 발달과 더불어 질병 진단 및 연구의 중요한 수단으로 일반화되고있으나, 태아에 대한 유전자 검사는 자기결정권이 없는 태아를 대상으로 하기 때문에 또 다른 윤리적, 사회적 문제가 있을 수 있으므로 특별한 주의를 기울여야 한다. 따라서 태아 유전자 검사를 시행하기 전에 유전 상담이 충분히 이루어져서 부모에게 병의 진단, 자연경과, 가능한 치료를 이해시키며, 질환의 유전방식과 가족의 재발 위험도를 평가하고 그에 따른 가능한 선택을 제시하여 가족들이 질환에 대해 최선의 결정을 할 수 있게 도움을 주어야 한다. 뿐만 아니라 태아 유전자 검사에 대한 현행법의 합리적인 법률 개정도 뒷받침되어야 한다.

• Child Health Nursing Research
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• 제7권3호
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• pp.342-358
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• 2001

The purpose of the study is both to develope the group counseling program applying Reality Therapy, by which positive body image could be conceived by adolescent women, by helping them identify their bodies as what they are, and then admit their real bodies, and also find out some practical methodologies of self-esteem, and to verify the program to show how effectively this program can be applied to them. Data were collected by self-reported questionnaires(body image and depression) from 59 high school girls in Seoul who were selected by criteria of this study, from the 1st of September to 10th of November, 2000. The experimental group participated in the group counseling by applying Reality Therapy with 8 sessions for 4 weeks. Descriptive statistics, homogeneity test, hypothesis testing, reliability were performed statistically by utilizing SAS pc program, and additionally the reaction due to the change of body image by adolescent women was also analyzed. The results drawn through the present study are as follows: 1. A hypothesis that 'adolescent women who participated in the group counseling program by applying Reality Therapy may get higher points on body image than adolescent women who did not participated' has been adopted (t=6.73, p=.000). 2. A hypothesis that 'adolescent women who participated in the group counseling program by applying Reality Therapy may get lower points on depression than adolescent women who did not participated' has been adopted (t=5.28, p=.000). 3. After applying the group counseling program, the degree of depression for upper group who obtained higher preliminary points on depression has decreased rather meaningfully more than that for lower group who obtained higher preliminary points(t=5.58, p=.000). 4. Reactions associated with positive change in body image of adolescent women who participated in the group counseling program by applying Reality Therapy has been shown to be body acceptance, enhancement of self-esteem, and change of value judgment of beauty. 5. The difference in the motivation and attitude of each group has been observed, by analyzing the reactions obtained from those who show the highest change of body image and those who show the lowest change of body image through the group counseling program by applying Reality Therapy. According to the present studies, it can be concluded that the group counseling program by applying Reality Therapy has turned out as an effective strategy for nursing intervention for adolescent women, by helping them form positive body images and reducing depression.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.89-93
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• 2008

"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the $21^{st}$ century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.

• 벤처창업연구
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• 제11권2호
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• pp.183-195
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• 2016

소상공인이 한국 경제에서 차지하는 비중이 높지만 전문적인 경영 역량이 부족하여 어려움에 처하는 경우가 많다. 그러나 이에 대한 실효성 있는 대안은 부족하다. 소상공인의 경영 문제에 관한 학계의 관심은 주로 성공적인 소상공인의 특징을 밝히거나 요인들 간의 관련성을 살펴보는 기술적이고 정량적 데이터 위주의 단편적 성과에 머물렀다. 한편 실질적인 경영 지원 과정을 통해 획득된 지식과 경험들을 이론적으로 논의하는 실천적 연구 성과는 찾아보기 어려운 형편이다. 2015년 6월부터 2015년 11월까지 경기도에 소재한 소상공인 업체들과 경기도 소재의 대학 및 경기도 소재의 중소기업진흥 기관이 공동으로 추진한 컨설팅 프로젝트에 실행 연구법을 부분 적용한 결과 트리플 힐릭스 이론 기반의 소상공인 컨설팅이 바람직한 결과를 가져온다는 사실을 알 수 있었다. 업체와 대학 그리고 공공 기관의 협업은 경영학을 배우는 학생들의 문제의식을 높이고 지식을 활용하는 기회를 부여하는 등 경영교육 상 목적 달성에 적절함도 확인했다.

• 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.

• Clinical and Experimental Pediatrics
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• 제64권4호
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• pp.149-156
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• 2021

Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous cafe-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.

• 한국산학기술학회논문지
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• 제20권9호
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• pp.103-110
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• 2019

본 연구는 대학생의 상담 관련 강의 수강 경험과 전공에 따라 공감능력과 감성지능이 차이를 보이는지 알아보는데 목적이 있다. 연구대상은 경기도 소재 대학의 대학생 313명이며, 가설 검증을 위해 통계적 분석 방법으로 독립표본 t검정과 일원배치 분산분석 및 Duncan의 사후검정을 실시하였다. 연구 결과, 대학생의 공감능력은 성별, 전공, 상담관련 강의 수강 경험에 따라 차이가 있는 것으로 나타났다. 대학생의 감성지능은 성별, 상담 관련 강의 수강 경험에 따라 차이가 있었다. 공감능력은 여자가 남자보다, 사회과학대학이 과학기술융합대학보다, 상담교육을 받은 학생이 받지 않은 학생보다 높게 나타났고, 감성지능은 여자가 남자보다, 상담교육을 받은 학생이 받지 않은 학생보다 높게 나타났다. 연구결과, 현재의 상담교육의 효과성은 확인할 수 있었으나, 전공에 따른 감성지능의 차이가 나타나지 않았다는 점에서 이론적 교육의 한계를 확인할 수 있었고, 교육을 통해 향상시킬 수 있는 공감능력이 현재의 커리큘럼으로 향상되지 못했다는 결과를 통해 실습 혹은 예술 매체 활용 등 상담 관련 교육 커리큘럼을 수정 혹은 보완해야 할 필요성을 부각시켰다는 점에서 본 연구의 의의를 찾을 수 있다.