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Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment

  • Jae Hun Yun;Yong Hee Hong;Go Hun Seo;Young-Lim Shin
    • Journal of Genetic Medicine
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    • v.19 no.2
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    • pp.94-99
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    • 2022
  • Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

Korean Air: Bringing Art and Culture to the World (대한항공의 문화마케팅 전략)

  • Yoo, Chang Jo;Ahn, Kwang Ho;Kim, Dong Hoon
    • Asia Marketing Journal
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    • v.11 no.3
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    • pp.167-184
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    • 2009
  • In the ever competitive world airline industry, Korean Air has been seeking on the one hand to streamline its operations through cost control and at the same time to boost customer loyalty and retention through a strong service differentiation strategy. As part of their service differentiation strategy, Korean Air has been actively engaging in culture marketing campaign. Their main activity involves entering into an alliance with the three leading museums of the world. Beginning with the Luvre of France, Korean Air supported the development of voice narration system that included the Korean language. This case describes the efforts of Korean Air to go beyond simply being a company that transports people and packages, to a global leading carrier that links the cities, cultures, and arts of the world. In the process, the case introduces the strategies and detailed actions behind Korean Air's culture marketing efforts.

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A Research on Comparison of Cultural Idea of Horse Between Korea and Mongolia - In view of customs related to horse in Korea and Mongolia (한·몽 말 문화 연구 시론 -한국과 몽골의 말과 관련된 세시풍속을 중심으로-)

  • Yoon, Eun-Sook
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.24 no.4
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    • pp.347-358
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    • 2004
  • In Mongolia which consists of nomadic populations, horse has been loved by nomads and considered most important transportation means. Horses have been used when they were making long journey looking for new plain ground for grazing. Therefore, horse is closely connected with Mongolian nomadic culture. In Korea, too, horses had been considered one of most important means for transportation and military. The symbolism of horse that is represented in both Mongolia and Korea is Heavenly Horse which communicates with the God and it was sanctified as a Sacrificing Horse which was sent to God for sacrifice, and it was even worshiped as Divine Horse, the diety. As is the case of two of Mongolian customs associated with Mongolian language are 'the ceremony of horse's giving birth her young' and 'the ceremony of letting the mare go where it was before', all the cases are related with cattle's milk. The ceremony of 'horse's giving birth her young' is the ceremony where people hope that they would see the young can grow well which were born in early summer thus increasing the numbers of horse. To go with this, they perform a ceremony of Chachal in which they sprinkle the best quality white milk which is the symbol of good luck and hope they would produce plentiful of dairy products. The ceremony of 'letting the mare go where it was before' is also the ceremony where people hope to have many new born young horses thus produce more dairy products and Airag for the next year as milking is no more available for that you. Since the unified Silla Era, Koreans have performed a sacrifice rituals to horse in auspicious day. It's purpose is to see their horses get no disease and bear as many youngs as possible. The Back Ins Je, one of well blown festivals in Jeju Island, was originated from people's wish to prosper in stock farming. It can be said that the custom of Korea and Mongolia related with horse's giving birth was originated from the wishes to god for fertility and fecundity. On top of that, while Mongolians sprinkled horse's milk both on the ground and to the air hoping they would have increased houses and, thus, secure many dairy products, Koreans wish that they would see the increased number of horses and their healthy conditions through heavenly rituals.

The Sociocultural Characteristics of Korean Ethnics in Central Asia (중앙아시아 한인의 사회문화적 특성과 과제)

  • 정성호
    • Korea journal of population studies
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    • v.20 no.2
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    • pp.161-180
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    • 1997
  • There are about 400, 000 Korean ethnics living in Central Asia. Most of Koreans in Central Asia are leading a stable middle class life mostly engaged in farm work. With increase of educational attainment of their children, a number of Koreans are launching into political and academic circles as well as in the cultural world or the press. In recent years, however, the countries in this area(Uzbekistan and Kazakstan) for this study advocate an ethnic united policy to stabilize the politics and society and to carry out efficient transformation from the former socialistic economy to a market oriented economy. In addition, they are trying to recover the culture and the language of each nation which has been forgotten in the assimilation of Russia policy. Koreans have difficulty in adaption to this kind of change. In fact, a number of Koreans lost traditional culture and could not speak their mother language - Korean. Although they more or less maintain national consciousness, they recognize Uzbekistan or Kazakstan as their nation politically. They associated with North Korea unilaterally before the launching of the Perestroika policy. But after the Seoul Olympics held in 1998, there was movement to know and understand South Korea. There has been increased in the investment by Korean companies in Central Asia. Now, what is an alternative idea for Korean community consciousness\ulcorner It can be summarized as follows: 1) The increase of aid to Korean education institute : Considering the last few decades of Russia's strong racial assimilation policy, which leads most Koreans to lost their language and national culture, the priority should go to Koreans education. 2) Local Korean press support : Though Korean newspaper are published and Korean broadcasting is on the air currently in Uzbekistan and Kazakstan, they are suffering from qualified staff and poor financial status. Therefore, positive support should be established for these Korean mass communication media outlets to recover their own function and expand their dissemination powers quickly. 3) Research on the actual condition for Korean Community : It is essential to directly examine the local Korean community's regional distribution, population structure, Korean group's formation and operation, social and cultural understanding, racial consciousness, hope for their mother land and much more. 4) Increase of mother land and education opportunity : To stir up national culture and national consciousness within the Korean community, it is necessary to expand continuous opportunities for mother land visits and education training for local Koreans, especially for second and third generations.

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Effects of Cohort Size on Male Experience-Earnings Profiles in Korea (코호트 사이즈가 경력-임금 곡선에 미치는 영향)

  • 신영수
    • Korea journal of population studies
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    • v.10 no.1
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    • pp.50-69
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    • 1987
  • There are about 400, 000 Korean ethnics living in Central Asia. Most of Koreans in Central Asia are leading a stable middle class life mostly engaged in farm work. With increase of educational attainment of their children, a number of Koreans are launching into political and academic circles as well as in the cultural world or the press. In recent years, however, the countries in this area(Uzbekistan and Kazakstan) for this study advocate an ethnic united policy to stabilize the politics and society and to carry out efficient transformation from the former socialistic economy to a market oriented economy. In addition, they are trying to recover the culture and the language of each nation which has been forgotten in the assimilation of Russia policy. Koreans have difficulty in adaption to this kind of change. In fact, a number of Koreans lost traditional culture and could not speak their mother language - Korean. Although they more or less maintain national consciousness, they recognize Uzbekistan or Kazakstan as their nation politically. They associated with North Korea unilaterally before the launching of the Perestroika policy. But after the Seoul Olympics held in 1998, there was movement to know and understand South Korea. There has been increased in the investment by Korean companies in Central Asia. Now, what is an alternative idea for Korean community consciousness\ulcorner It can be summarized as follows: 1) The increase of aid to Korean education institute : Considering the last few decades of Russia's strong racial assimilation policy, which leads most Koreans to lost their language and national culture, the priority should go to Koreans education. 2) Local Korean press support : Though Korean newspaper are published and Korean broadcasting is on the air currently in Uzbekistan and Kazakstan, they are suffering from qualified staff and poor financial status. Therefore, positive support should be established for these Korean mass communication media outlets to recover their own function and expand their dissemination powers quickly. 3) Research on the actual condition for Korean Community : It is essential to directly examine the local Korean community's regional distribution, population structure, Korean group's formation and operation, social and cultural understanding, racial consciousness, hope for their mother land and much more. 4) Increase of mother land and education opportunity : To stir up national culture and national consciousness within the Korean community, it is necessary to expand continuous opportunities for mother land visits and education training for local Koreans, especially for second and third generations.

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Feasibility of Deep Learning Algorithms for Binary Classification Problems (이진 분류문제에서의 딥러닝 알고리즘의 활용 가능성 평가)

  • Kim, Kitae;Lee, Bomi;Kim, Jong Woo
    • Journal of Intelligence and Information Systems
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    • v.23 no.1
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    • pp.95-108
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    • 2017
  • Recently, AlphaGo which is Bakuk (Go) artificial intelligence program by Google DeepMind, had a huge victory against Lee Sedol. Many people thought that machines would not be able to win a man in Go games because the number of paths to make a one move is more than the number of atoms in the universe unlike chess, but the result was the opposite to what people predicted. After the match, artificial intelligence technology was focused as a core technology of the fourth industrial revolution and attracted attentions from various application domains. Especially, deep learning technique have been attracted as a core artificial intelligence technology used in the AlphaGo algorithm. The deep learning technique is already being applied to many problems. Especially, it shows good performance in image recognition field. In addition, it shows good performance in high dimensional data area such as voice, image and natural language, which was difficult to get good performance using existing machine learning techniques. However, in contrast, it is difficult to find deep leaning researches on traditional business data and structured data analysis. In this study, we tried to find out whether the deep learning techniques have been studied so far can be used not only for the recognition of high dimensional data but also for the binary classification problem of traditional business data analysis such as customer churn analysis, marketing response prediction, and default prediction. And we compare the performance of the deep learning techniques with that of traditional artificial neural network models. The experimental data in the paper is the telemarketing response data of a bank in Portugal. It has input variables such as age, occupation, loan status, and the number of previous telemarketing and has a binary target variable that records whether the customer intends to open an account or not. In this study, to evaluate the possibility of utilization of deep learning algorithms and techniques in binary classification problem, we compared the performance of various models using CNN, LSTM algorithm and dropout, which are widely used algorithms and techniques in deep learning, with that of MLP models which is a traditional artificial neural network model. However, since all the network design alternatives can not be tested due to the nature of the artificial neural network, the experiment was conducted based on restricted settings on the number of hidden layers, the number of neurons in the hidden layer, the number of output data (filters), and the application conditions of the dropout technique. The F1 Score was used to evaluate the performance of models to show how well the models work to classify the interesting class instead of the overall accuracy. The detail methods for applying each deep learning technique in the experiment is as follows. The CNN algorithm is a method that reads adjacent values from a specific value and recognizes the features, but it does not matter how close the distance of each business data field is because each field is usually independent. In this experiment, we set the filter size of the CNN algorithm as the number of fields to learn the whole characteristics of the data at once, and added a hidden layer to make decision based on the additional features. For the model having two LSTM layers, the input direction of the second layer is put in reversed position with first layer in order to reduce the influence from the position of each field. In the case of the dropout technique, we set the neurons to disappear with a probability of 0.5 for each hidden layer. The experimental results show that the predicted model with the highest F1 score was the CNN model using the dropout technique, and the next best model was the MLP model with two hidden layers using the dropout technique. In this study, we were able to get some findings as the experiment had proceeded. First, models using dropout techniques have a slightly more conservative prediction than those without dropout techniques, and it generally shows better performance in classification. Second, CNN models show better classification performance than MLP models. This is interesting because it has shown good performance in binary classification problems which it rarely have been applied to, as well as in the fields where it's effectiveness has been proven. Third, the LSTM algorithm seems to be unsuitable for binary classification problems because the training time is too long compared to the performance improvement. From these results, we can confirm that some of the deep learning algorithms can be applied to solve business binary classification problems.

Customer Behavior Prediction of Binary Classification Model Using Unstructured Information and Convolution Neural Network: The Case of Online Storefront (비정형 정보와 CNN 기법을 활용한 이진 분류 모델의 고객 행태 예측: 전자상거래 사례를 중심으로)

  • Kim, Seungsoo;Kim, Jongwoo
    • Journal of Intelligence and Information Systems
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    • v.24 no.2
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    • pp.221-241
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    • 2018
  • Deep learning is getting attention recently. The deep learning technique which had been applied in competitions of the International Conference on Image Recognition Technology(ILSVR) and AlphaGo is Convolution Neural Network(CNN). CNN is characterized in that the input image is divided into small sections to recognize the partial features and combine them to recognize as a whole. Deep learning technologies are expected to bring a lot of changes in our lives, but until now, its applications have been limited to image recognition and natural language processing. The use of deep learning techniques for business problems is still an early research stage. If their performance is proved, they can be applied to traditional business problems such as future marketing response prediction, fraud transaction detection, bankruptcy prediction, and so on. So, it is a very meaningful experiment to diagnose the possibility of solving business problems using deep learning technologies based on the case of online shopping companies which have big data, are relatively easy to identify customer behavior and has high utilization values. Especially, in online shopping companies, the competition environment is rapidly changing and becoming more intense. Therefore, analysis of customer behavior for maximizing profit is becoming more and more important for online shopping companies. In this study, we propose 'CNN model of Heterogeneous Information Integration' using CNN as a way to improve the predictive power of customer behavior in online shopping enterprises. In order to propose a model that optimizes the performance, which is a model that learns from the convolution neural network of the multi-layer perceptron structure by combining structured and unstructured information, this model uses 'heterogeneous information integration', 'unstructured information vector conversion', 'multi-layer perceptron design', and evaluate the performance of each architecture, and confirm the proposed model based on the results. In addition, the target variables for predicting customer behavior are defined as six binary classification problems: re-purchaser, churn, frequent shopper, frequent refund shopper, high amount shopper, high discount shopper. In order to verify the usefulness of the proposed model, we conducted experiments using actual data of domestic specific online shopping company. This experiment uses actual transactions, customers, and VOC data of specific online shopping company in Korea. Data extraction criteria are defined for 47,947 customers who registered at least one VOC in January 2011 (1 month). The customer profiles of these customers, as well as a total of 19 months of trading data from September 2010 to March 2012, and VOCs posted for a month are used. The experiment of this study is divided into two stages. In the first step, we evaluate three architectures that affect the performance of the proposed model and select optimal parameters. We evaluate the performance with the proposed model. Experimental results show that the proposed model, which combines both structured and unstructured information, is superior compared to NBC(Naïve Bayes classification), SVM(Support vector machine), and ANN(Artificial neural network). Therefore, it is significant that the use of unstructured information contributes to predict customer behavior, and that CNN can be applied to solve business problems as well as image recognition and natural language processing problems. It can be confirmed through experiments that CNN is more effective in understanding and interpreting the meaning of context in text VOC data. And it is significant that the empirical research based on the actual data of the e-commerce company can extract very meaningful information from the VOC data written in the text format directly by the customer in the prediction of the customer behavior. Finally, through various experiments, it is possible to say that the proposed model provides useful information for the future research related to the parameter selection and its performance.

Fruit price prediction study using artificial intelligence (인공지능을 이용한 과일 가격 예측 모델 연구)

  • Im, Jin-mo;Kim, Weol-Youg;Byoun, Woo-Jin;Shin, Seung-Jung
    • The Journal of the Convergence on Culture Technology
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    • v.4 no.2
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    • pp.197-204
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    • 2018
  • One of the hottest issues in our 21st century is AI. Just as the automation of manual labor has been achieved through the Industrial Revolution in the agricultural society, the intelligence information society has come through the SW Revolution in the information society. With the advent of Google 'Alpha Go', the computer has learned and predicted its own machine learning, and now the time has come for the computer to surpass the human, even to the world of Baduk, in other words, the computer. Machine learning ML (machine learning) is a field of artificial intelligence. Machine learning ML (machine learning) is a field of artificial intelligence, which means that AI technology is developed to allow the computer to learn by itself. The time has come when computers are beyond human beings. Many companies use machine learning, for example, to keep learning images on Facebook, and then telling them who they are. We also used a neural network to build an efficient energy usage model for Google's data center optimization. As another example, Microsoft's real-time interpretation model is a more sophisticated translation model as the language-related input data increases through translation learning. As machine learning has been increasingly used in many fields, we have to jump into the AI industry to move forward in our 21st century society.

A Case Study on the Experience of Science Teacher Participating in Peer Coaching Meetings (동료 장학 모임에 참여한 과학교사의 경험 사례 연구)

  • Chung, Haengnam;Choi, Byungsoon
    • Journal of The Korean Association For Science Education
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    • v.33 no.1
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    • pp.63-78
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    • 2013
  • Purposes of this study were to explore the process of experience that science teachers go through when participating in peer coaching meetings to improve teaching ability and to find out factors that affect each process of experience. The data were collected through recording of peer coaching meetings, videotapes of science class, and interviews. All the data were analyzed after transcription. The results of the study showed that even though Teacher K broke the ice and formed consensus among the peers by developing Content Representation (CoRe) at the beginning of the meetings, he became self-defensive rather than receptive of peers' opinions on the recorded class at the discussion session. But as the peer coaching went on, he realized that peer coaching was not about evaluation but rather on improving his teaching ability. In turn, he was able to look at his teaching in a more objective point of view and accepted suggestions from peer coaching discussion. The self-reflection of Teacher K acted as the key factor in the efforts to improve his teaching ability. He sought the concrete alternatives through the class analysis with fellow teachers and showed major changes in his teaching practice from the language habits, pronunciation, and speed of his speech to the interaction with students and class design. However, there was little change in knowledge of curriculum and assessment due to his strong orientation to improve students' grades as an academic high school teacher. Likewise, it was found that while peer coaching exert a strong influence on instructional methods and strategies of Teacher K, his strong orientation to improve students' grades hinders a balanced development of subcomponents of PCK.

A Study on the Operation Activation for Specialized High Schools in Chungcheongbuk-do (충청북도 전문계 고등학교 운영 활성화 방안 연구)

  • Lee, Sang-Hyuk;Jee, Soon-Duk
    • 대한공업교육학회지
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    • v.32 no.2
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    • pp.47-68
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    • 2007
  • The purpose of this research was on the operation activation for specialized high schools in Chungcheongbuk-do, and conducted a survey of chief teachers of Practical Art Subject and heads of each subjects in 32 specialized high schools in district about the system reform of vocational high school, promotion of characterization for each subject, modification of curriculum, reinforcement of direction guide, of which results were analyzed. Also, another survey of small and middle businesses was conducted to investigate the demand for human resources for industrial businesses in Chungcheongbuk-do and specialized abilities required by companies. Through the study, the reform of operation activation for specialized high schools in Chungcheongbuk-do were suggested as follows. First, Specialized high schools should more focus on educating application of a computer and the basic abilities in foreign language at the request of industry. Second, If more than 80% of vocational high school graduates go to junior colleges or universities, specialized high schools should reform their operation like general high schools. Third, Specialized high schools should expand the operation of customized curriculum for neighboring industry to raise employment rate. Fourth, Specialized high schools in Chungcheongbuk-do should reform their courses which can provide students with fundamental knowledge to work in industry related to BT and IT, as Osong medical complex and Ochang IT industrial complex are expanding gradually. Fifth, Employees in companies should be applied as guest teachers, and the principal should have a right to autonomy to operate their own curriculum. Sixth, 5 years rotation system for public schools should be revised to more than 10 years rotation system for special subjects in specialized high schools. Therefore, teachers will have ownership of the school by the revised system.