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Prenatal Diagnosis of the 22q11.2 Duplication Syndrome

  • Lee, Moon-Hee;Park, So-Yeon;Lee, Bom-Yi;Choi, Eun-Young;Kim, Jin-Woo;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Yang, Jae-Hyug;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.6 no.2
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    • pp.175-178
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    • 2009
  • The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.

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Development of Gated Myocardial SPECT Analysis Software and Evaluation of Left Ventricular Contraction Function (게이트 심근 SPECT 분석 소프트웨어의 개발과 좌심실 수축 기능 평가)

  • Lee, Byeong-Il;Lee, Dong-Soo;Lee, Jae-Sung;Chung, June-Key;Lee, Myung-Chul;Choi, Heung-Kook
    • The Korean Journal of Nuclear Medicine
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    • v.37 no.2
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    • pp.73-82
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    • 2003
  • Objectives: A new software (Cardiac SPECT Analyzer: CSA) was developed for quantification of volumes and election fraction on gated myocardial SPECT. Volumes and ejection fraction by CSA were validated by comparing with those quantified by Quantitative Gated SPECT (QGS) software. Materials and Methods: Gated myocardial SPECT was peformed in 40 patients with ejection fraction from 15% to 85%. In 26 patients, gated myocardial SPECT was acquired again with the patients in situ. A cylinder model was used to eliminate noise semi-automatically and profile data was extracted using Gaussian fitting after smoothing. The boundary points of endo- and epicardium were found using an iterative learning algorithm. Enddiastolic (EDV) and endsystolic volumes (ESV) and election fraction (EF) were calculated. These values were compared with those calculated by QGS and the same gated SPECT data was repeatedly quantified by CSA and variation of the values on sequential measurements of the same patients on the repeated acquisition. Results: From the 40 patient data, EF, EDV and ESV by CSA were correlated with those by QGS with the correlation coefficients of 0.97, 0.92, 0.96. Two standard deviation (SD) of EF on Bland Altman plot was 10.1%. Repeated measurements of EF, EDV, and ESV by CSA were correlated with each other with the coefficients of 0.96, 0.99, and 0.99 for EF, EDV and ESV respectively. On repeated acquisition, reproducibility was also excellent with correlation coefficients of 0.89, 0.97, 0.98, and coefficient of variation of 8.2%, 5.4mL, 8.5mL and 2SD of 10.6%, 21.2mL, and 16.4mL on Bland Altman plot for EF, EDV and ESV. Conclusion: We developed the software of CSA for quantification of volumes and ejection fraction on gated myocardial SPECT. Volumes and ejection fraction quantified using this software was found valid for its correctness and precision.

Effect of Treatment with Docosahexaenoic Acid into N-3 Fatty Acid Deficient and Adequate Diets on Rat Brain and Liver Fatty Acid Composition (필수 지방산 조성이 다른 식이의 docosahexaenoic acid 투여가 흰쥐 뇌 및 간의 지방산 조성에 미치는 영향)

  • Lim, Sun-Young
    • Journal of Life Science
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    • v.19 no.10
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    • pp.1417-1423
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    • 2009
  • Previous studies have suggested that docosahexaenoic acid (DHA) supplementation into n-3 fatty acid deficient diet improved spatial learning performance, but there was no significant difference in brain related function when DHA was added into a n-3 fatty acid adequate diet. Here, we investigated the effect of adding DHA into an n-3 fatty acid deficient or adequate diet on brain and liver fatty acid composition. On the second day after conception, Sprague Dawley strain dams were divided into four groups as follows; n-3 fatty acid deficient (Def), n-3 fatty acid deficient plus DHA (Def+DHA, 10.2% DHA), n-3 fatty acid adequate (Adq, 3.4% linolenic acid), and n-3 fatty acid adequate plus DHA (Adq+DHA, 3.31% linolenic acid plus 9.65% DHA). After weaning, male pups were fed on the same diets of their respective dams until adulthood. In brain fatty acid composition, the Def group showed a lower brain DHA (64% decrease), which was largely compensated for by an increase in docosapentaenoic acid (22:5n-6). Brain DHA in the Def+DHA group was increased to almost the same extent as in the Adq and Adq+DHA groups and there were no significant differences among them. Liver fatty acid composition showed a similar pattern to that of the brain, but liver DHA in the Def+DHA showed the highest percentage among the diet groups. In conclusion, n-3 fatty acid deficiency from gestation to adulthood leads to decreased brain DHA, which has been shown to be highly associated with poor spatial leaning performance. Thus, adequate brain DHA levels are required for optimal nervous function.

Early Identification of Gifted Young Children and Dynamic assessment (유아 영재의 판별과 역동적 평가)

  • 장영숙
    • Journal of Gifted/Talented Education
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    • v.11 no.3
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    • pp.131-153
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    • 2001
  • The importance of identifying gifted children during early childhood is becoming recognized. Nonetheless, most researchers preferred to study the primary and secondary levels where children are already and more clearly demonstrating what talents they have, and where more reliable predictions of gifted may be made. Comparatively lisle work has been done in this area. When we identify giftedness during early childhood, we have to consider the potential of the young children rather than on actual achievement. Giftedness during early childhood is still developing and less stable than that of older children and this prevents us from making firm and accurate predictions based on children's actual achievement. Dynamic assessment, based on Vygotsky's concept of the zone of proximal development(ZPD), suggests a new idea in the way the gifted young children are identified. In light of dynamic assessment, for identifying the potential giftedness of young children. we need to involve measuring both unassisted and assisted performance. Dynamic assessment usually consists of a test-intervene-retest format that focuses attention on the improvement in child performance when an adult provides mediated assistance on how to master the testing task. The advantages of the dynamic assessment are as follows: First, the dynamic assessment approach can provide a useful means for assessing young gifted child who have not demonstrated high ability on traditional identification method. Second, the dynamic assessment approach can assess the learning process of young children. Third, the dynamic assessment can lead an individualized education by the early identification of young gifted children. Fourth, the dynamic assessment can be a more accurate predictor of potential by linking diagnosis and instruction. Thus, it can make us provide an educational treatment effectively for young gifted children.

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The foundation and Characteristic on the Aesthetic of EuiJae Huh BaekRyun' Namjonghwa (의재(毅齋) 허백련(許百鍊) 남종화(南宗畵)의 예술심미 고찰)

  • Kim, Doyoung
    • The Journal of the Convergence on Culture Technology
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    • v.6 no.3
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    • pp.1-8
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    • 2020
  • EuiJae Hu BaekRyun is a symbol of Honam Namjonghwa and is respected as a teacher of Honam culture. He is from JinDo and is a relative of Sochi Heo Ryun and a disciple of Misan Heo Hyeong. The spirit of traditional Namjongghwa and the dignity of painting faithful to its technique have been obtained by themselves, and have made it his own. EuiJae organized a 'Yeonjinhoe' in Gwangju to raise his students. After liberation, a house was built under Mudeungsan Mountain. And showed another aspect as a social educator who emphasized and practiced national spirit while being a tea ceremony man. He excelled in Chinese poetry and painting theory, and expressed a unique field in calligraphy. especially worked as an artist good at poetry, caligraphy, and painting. EuiJae showed exceptional talent, especially in landscape painting. His tendency to paint was to follow Ye Chan's technique of drawing with a dry brush, placing importance on the energy of learning, and constantly trying new experiments with the technique of gisaeng. The world of EuiJae's works can be divided into three periods, based on the signature using the trend of painting or the change of perspective pursued, the era of EuiJae, the era of EuiJaeSanin, and the era of EuiDoin, which had a tendency of independent painting. EuiJae's contribution surpassed the artistic historical assessment that he had formed a big stem for the authentic Namjongghwa of Korean painting culture, which was part of Oriental painting. And recognizing that he was a fundamental teacher connecting modern times through the actual scenery based on NamDohwa's universal spirit and regional characteristics and the creative succession of emotions, he should inherit his passion for artistic spirit and tradition and experimental spirit.

A Comparative Study on Communication of Agricultural Innovation (농업 기술 전파 커뮤니케이션에 관한 비교 연구)

  • Kim, Sung-Soo
    • Journal of Agricultural Extension & Community Development
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    • v.7 no.1
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    • pp.121-136
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    • 2000
  • This study reports on a comparison between the Korean diffusion of agricultural innovation or extension service and the cooperative extension service in the United States of America. It focuses on relevant differences between the two systems and provides recommendation for improvement of the Korean system to insure success in important areas related to the diffusion of agricultural innovations. After a comparative study on diffusion of innovations it is clear that: in order to have a productive agriculture that makes effective and efficient use of natural resources and helps achieve sustainability goals, a mechanism that delivers knowledge to agricultural communities must be established and maintained. This mechanism is clearly an agricultural extension service that is cooperatively funded by federal, state and local governments and that insures participation of constituents in the process of establishing priorities and evaluating achievements. The success of US agriculture, the most productive in the world, is to a large degree to the Cooperative Extension Service. Based on the results of this study and the differences of the United States and Korea, the following recommendations should be emphasized for more effective communication for agricultural innovation and rural development in Korea: 1) In order to insure that extension educators are high caliber professional individuals, it is important to establish a system that nationally recognizes these individuals as such, and that provides a professional development path. 2) The results of the decision of transfer of extension educators to local governments has not yielded positive outcomes, especially in terms of professional status. It is clearly demonstrable that valuable professionals are leaving the service, that local governments do not have the will and resources to implement a successful extension program. 3) Because of the critical importance of diffusing innovations to agricultural producers in order to insure and quality and steady food supply, it is of critical importance that these issues be addressed before the extension service is further deteriorated. Given the cement situation, it is clear that the extension service should become nationally supported again in cooperation with local and state governments and that extension professionals be given appropriate rank at the national level, commesurate with their peers in research and teaching. 4) The common current committee practice of lengthy reporting and short discussion needs to be changed to one that results in char, brief and substantive action oriented goals. Joint participation by researchers, extension educators and farmers should be encouraged in planning, implementation and evaluation of communication for agricultural innovations. Roles and functions of committees for institutional cooperation, and or agricultural extension committees should be enlarged. 5) Extension educators should be encouraged to adopt new communication technologies to improve their diffusion of innovations methods. Agricultural institutions and organizations should be encouraged to adopt farmer-first and or client-oriented approach in agricultural extension and diffusion of agricultural technologies. The number, complexity and rapid change of information in agricultural extension require the development of a computer based information and report system to support agricultural extension. 6) To facilitate and expand the further development of communication for agricultural innovation and rural development, agricultural communication programs in universities especially in colleges of agriculture and life sciences. 7) To strengthening the sense of national and social responsibility communication for agricultural innovation and rural development among students in agricultural colleges and universities through participation in learning activities by proactive recruitment. 8) To establish and reinforce a policy that insures participation in communication for agricultural innovation and regal development activities. 9) To improve further development of communication for agricultural innovation and rural development in Korea, more research activities should be encouraged.

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Considerations for Helping Korean Students Write Better Technical Papers in English (한국 대학생들의 영어 기술 논문 작성 능력 향상을 위한 고찰)

  • Kim, Yee-Jin;Pak, Bo-Young;Lee, Chang-Ha;Kim, Moon-Kyum
    • Journal of Engineering Education Research
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    • v.10 no.3
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    • pp.64-78
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    • 2007
  • For Korean researchers, English is essential. In fact, this is the case for any researcher who is a non-native English speaker, as recognition and success is predicated on being published, while publications that reach the broadest audiences are in English. Unfortunately, university science and engineering programs in Korea often do not provide formal coursework to help students attain greater competence in English composition. Aggravating this situation is the general lack of literature covering this specific pedagogical issue. While there is plenty of information to help native speakers with technical writing and much covering general English composition for EFL learners, there is very little information available to help EFL learners become better technical writers. Thus, the purpose of this report is twofold. First, as most Korean educators in science and engineering are not well acquainted with pedagogical issues of EFL writing, this report provides a general introduction to some relevant issues. It reviews the importance of contrastive rhetoric as well as some considerations for choosing the appropriate teaching approach, class arrangement, and use of computer assisted learning tools. Secondly, a course proposal is discussed. Based on a review of student writing samples as well as student responses to a self-assessment questionnaire, the proposed course is intended to balance the needs of Korean EFL learners to develop grammar, process, and genre skills involved in technical writing. Although, the scope of this report is very modest, by sharing the considerations made towards the development of an EFL technical writing course it seeks to provide a small example to a field that is perhaps lacking examples.

Optimal supervised LSA method using selective feature dimension reduction (선택적 자질 차원 축소를 이용한 최적의 지도적 LSA 방법)

  • Kim, Jung-Ho;Kim, Myung-Kyu;Cha, Myung-Hoon;In, Joo-Ho;Chae, Soo-Hoan
    • Science of Emotion and Sensibility
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    • v.13 no.1
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    • pp.47-60
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    • 2010
  • Most of the researches about classification usually have used kNN(k-Nearest Neighbor), SVM(Support Vector Machine), which are known as learn-based model, and Bayesian classifier, NNA(Neural Network Algorithm), which are known as statistics-based methods. However, there are some limitations of space and time when classifying so many web pages in recent internet. Moreover, most studies of classification are using uni-gram feature representation which is not good to represent real meaning of words. In case of Korean web page classification, there are some problems because of korean words property that the words have multiple meanings(polysemy). For these reasons, LSA(Latent Semantic Analysis) is proposed to classify well in these environment(large data set and words' polysemy). LSA uses SVD(Singular Value Decomposition) which decomposes the original term-document matrix to three different matrices and reduces their dimension. From this SVD's work, it is possible to create new low-level semantic space for representing vectors, which can make classification efficient and analyze latent meaning of words or document(or web pages). Although LSA is good at classification, it has some drawbacks in classification. As SVD reduces dimensions of matrix and creates new semantic space, it doesn't consider which dimensions discriminate vectors well but it does consider which dimensions represent vectors well. It is a reason why LSA doesn't improve performance of classification as expectation. In this paper, we propose new LSA which selects optimal dimensions to discriminate and represent vectors well as minimizing drawbacks and improving performance. This method that we propose shows better and more stable performance than other LSAs' in low-dimension space. In addition, we derive more improvement in classification as creating and selecting features by reducing stopwords and weighting specific values to them statistically.

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An Analysis of the Use of Media Materials in School Health Education and Related Factors in Korea (학과보건교육에서의 매체활용실태 및 영향요인 분석)

  • Kim, Young-Im;Jung, Hye-Sun;Ahn, Ji-Young;Park, Jung-Young;Park, Eun-Ok
    • Journal of the Korean Society of School Health
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    • v.12 no.2
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    • pp.207-215
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    • 1999
  • The objectives of this study are to explain the use of media materials in school health education with other related factors in elementary, middle, and high schools in Korea. The data were collected by questionnaires from June to September in 1998. The number of subjects were 294 school nurses. The PC-SAS program was used for statistical analysis such as percent distribution, chi-squared test, spearman correlation test, and logistic regression. The use of media materials in health education has become extremely common. Unfortunately, much of the early materials were of poor production quality, reflected low levels of interest, and generally did little to enhance health education programming. A recent trend in media materials is a move away from the fact filled production to a more affective, process-oriented approach. There is an obvious need for health educators to use high-quality, polished productions in order to counteract the same levels of quality used by commercial agencies that often promote "unhealthy" lifestyles. Health educators need to be aware of the advantages and disadvantages of the various forms of media. Selecting media materials should be based on more than cost, availability, and personal preference. Selection should be based on the goal of achieving behavioral objectives formulated before the review process begins. The decision to use no media materials rather than something of dubious quality usually be the right decision. Poor-quality, outdated, or boring materials will usually have a detrimental effect on the presentation. Media materials should be viewed as vehicles to enhance learning, not products that will stand in isolation. Process of materials is an essential part of the educational process. The major results were as follows : 1. The elementary schools used the materials more frequently. But the production rate of media materials was not enough. The budget was too small for a wide use of media materials in school health education. These findings suggest that all schools have to increase the budget of health education programs. 2. Computers offer an incredibly diverse set of possibilities for use in health education, ranging from complicated statistical analysis to elementary-school-level health education games. But the use rate of this material was not high. The development of related software is essential. Health educators would be well advised to develop a basic operating knowledge of media equipment. 3. In this study, the most effective materials were films in elementary school and videotapes in middle and high school. Film tends to be a more emotive medium than videotape. The difficulties of media selection involved the small amount of extant educational materials. Media selection is a multifaceted process and should be based on a combination of sound principles. 4. The review of material use following student levels showed that the more the contents were various, the more the use rate was high. 5. Health education videotapes and overhead projectors proved the most plentiful and widest media tools. The information depicted was more likely to be current. As a means to display both text and graphic information, this instructional medium has proven to be both effective and enduring. 6. An analysis of how effective the quality of school nurse and school use of media materials shows a result that is not complete (p=0.1113). But, the budget of health education is a significant variable. The increase of the budget therefore is essential to effective use of media materials. From these results it is recommended that various media materials be developed and be wide used.

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Surgical Technique for Korean Artificial Heart(AnyHeart) Implantation Using a Right Thoracotomy Approach (우측 개흉술을 이용한 한국형 인공심장(AnyHeart)의 이식기법)

  • Son. Ho-Sung;Sun, Kyung;Shin, Jae-Seung;Lee, Sung-Ho;Jung, Jae-Seung;Lee, Hye-Won;Kim, Kwang-Taik;Kim, Seung-Chul;Won, Yong-Soon;Min, Byoung-Goo;Kim, Hyoung-Mook
    • Journal of Chest Surgery
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    • v.35 no.5
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    • pp.329-335
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    • 2002
  • Background: The surgical technique for biventricular assist device(BVAD) implantation has mainly consisted of cannulation procedures. A median sternotomy has been the technique of choice as it gives a surgeon an excellent exposure of the heart. However, considering that most patients require a future sternotomy or already have a previous sternotomy, sternotomy-related complication remains a major concern in BVAD implantation. Based on this consideration as well as the clinical experiences of conventional heart surgery, the authors have hypothesized that the cardiac chambers for BVAD cannulation can be approached from the right side of the heart. The purpose of this studs to develop a novel surgical technique of right thoracotomy for BVAD implantation in an animals study. Material and Method: For last two years, 16 (11 calves, 3 canines, and 2 sheep) out of 30 experimental animals with AnyHeart implantation underwent a right thoracotomy. The device was used as an implantable BVAD in 14 animals, a wearable BVAD in 1, and an implantable LVAD in 1. The chest cavity was entered through the 4th intercostal space or the 5th periosteal bed. As for the BVAD use, a right inflow cannula was inserted into the right atrial free wall and a right outflow cannula was grafted onto the main pulmonary artery. A left inflow cannula was inserted into the interatrial groove and a left outflow cannula was grafted on the innominate artery of the ascending aorta. The connecting tubes were brought out through the thoracotomy wound and connected to the pump located in the subcutaneous pocket at the right flank. Result: Except for the 5 animals for a lilting test or during the early learning curve, all recovered smoothly from the procedures. The inflow drainage allowed the pump output 6.5 L/min at the maximum with 3-3.5 L/min in an average. Of the survivors, there noted no procedure-related mortality or morbidity. Necropsy findings demonstrated the well-positioned cannula tips in the each cardiac chamber