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Fragile X Syndrome and it's Association with Autism (약체X염색체 증후군과 자폐증과의 연관)

  • Yang, Moon-Bong
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.3 no.1
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    • pp.147-157
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    • 1992
  • The fragile X syndrome, which is considered to be synonymous with the Martin-Bell syndrome, is a relatively common form of X-linked mental retardation. The syndrome seems to occure in many different ethnic groups and its prevalence among mentally retarded males has been estimated to be in the order of 2 to 6%. The karyotypic hallmark of the syndrome is made up with a pronounced constriction near each tip of the long arm of the X chromosome(fragile site), shown in vitro only under conditions in which thymidylate production is blocked(lowered folate levels). Special culture media are needed to demonstrate this constriction site. Major clinical features associated with the syndrome include macroorchidism, large or prominent ears, significant emotional and behavioral dysfunctions such as hyperactivity, self-injury, lack of eye contact and social interaction, schizophrenia, autism, etc., and speech and language dysfunctions ranging from nonverbal to verbal speech with moderate to severe expressive language delays. Some have minor clinical features in common such as an increase in birth weight high forehead, prognathism, increased head circumference in infancy and childhood which did not persist into adult life. The recent research findings have shown that the fragile X syndrome is associated with infantile autism. Many patients with the fragile X syndrome fulfill the diagnostic criteria for infantile autism. Therefore it is recommendable that any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fragile X examination. In the present review, historical aspects, incidence, and clinical features are presented. Recent anecdotal reports of the association with autism and the clinical improvement following high dose folic acid treatment will be discussed.

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A CASE OF CORENELIA DE LANGE SYNDROME WITH MENTAL RETARDATION AND AUTISTIC DISORDER (정신지체와 자폐장애를 보이는 Cornelia De Lange 증후군 1예)

  • Kim, Se-Joo;Choi, Nak-Kyoung;Song, Jung-Eun
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.14 no.1
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    • pp.123-127
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    • 2003
  • Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

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Development of Program to Facilitate High School Students' Search for Potential College Majors and Future Career as Career Education: Focusing on Connection between High School Home Economics and College of Human Ecology Majors (진로교육 차원에서 고등학생의 전공적합성 탐색을 위한 프로그램 개발: 고등학교 가정교과-생활과학대학 전공 연계를 중심으로)

  • Jeon, Sohyeon;Kim, Seohyun;Go, Youngshin;Jung, Soohee
    • Journal of Korean Home Economics Education Association
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    • v.27 no.2
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    • pp.53-75
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    • 2015
  • In the modern society, the adolescence needs the career development competency which makes them probe changing social phenomenon critically and use the given environment and resources progressively. Thus, adolescence should be offered with the career development competency education, but the education in the school fields remains as school entrance coaching focusing on the academic clique and career coaching as a mere job education. As a result, the study connection between high school and university was destroyed and it caused students' study-unfitness and dropouts after the university entrance. Hence, career education to culture major suitability of high school students in the new paradigm should be developed through high school-university connection. So, this study developed a career education program through the collaboration among the professor of college of human ecology, a home economics specialist, undergraduates majoring in human ecology, and a high school student, using the ADDIE model. The result of this study is as followed. First, this study searched for the direction of the program for the career development competency reinforcement of high school students. Second, the program arranged the newest issues of each department of human ecology to make high school students come in contact with and study them easily, aiming at cultivation of major suitability of high school students. Third, the study established the teaching-learning materials that is managed by the high school-college of human ecology committee. Fourth, this program will be the good opportunity for students who are interested in departments of human ecology to check their major suitability.

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A Study on the Post Occupancy Evaluation of Urban Grand Park with Reference to the Perception of Residents -Focused on Ulsan Grand Park's Efficiency and User's Satisfaction- (주민의식에 기초한 도시 대공원의 이용후 평가 -울산 대공원의 공원효율성 및 이용 만족도를 중심으로-)

  • 성백진;최종희;이재근;권오복
    • Journal of the Korean Institute of Landscape Architecture
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    • v.32 no.2
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    • pp.11-24
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    • 2004
  • The purpose of this study is to present data on the human activities responding to the physical environment of ‘Ulsan’s Grand Parks by evaluating user behavior and activity, visiting motivations, and user satisfaction. This study was conducted using multi-methods such as interviews and questionnaires surveys. The main findings of this study can be summarized in six parts as follows: \circled1 Behavior patterns showed that the users visited the park left within 30 minutes and the frequency of visits was 1 or 2 times per week. They spent their time mostly on ‘walking’ and ‘picnicking’. The users visited regardless of the seasons or the day of the week. \circled2 The priorities for improvements were analyzed as follows: the users expressed their demands for ‘shadowing facilities’ like shelters and pergolas because they used these facilities frequently. Also, the users would like an ‘event program’, ‘sign system’ and ‘guide program’. \circled3 Analysis of the the user’s perception of the park showed that they perceive the park as ‘representative source of the landscape and open space in Ulsan and place for making contact with nature. \circled4 In examining the visiting motivations of the users of Ulsan Grand Park, it was revealed that people use the park for ‘time with family and friends’, ‘to escape from city life’, ‘to relieve fatigue. As a result of factor analysis, 4 factors were identified such as ‘physical motive(MF1)’, ‘exploratory motive(MF2)’, ‘social motive(MF3)’ and ‘emotional motive(MF4). \circled5 Park users’ evaluation for park facilities showed that people are satisfied with most of the facilities and especially, they have high level of satisfaction for ‘footpaths’, ‘squares’ and ‘picnicspace’. The evaluation of the park user’s of activity reveals that they are content with nearly all the variables. Especially, they have high level of satisfaction for the variables of ‘convenience for dynamic activities’, ‘making of a beautiful atmosphere, ‘accessibility from the outside’ and, ‘convenience in group activitie. Factor analysis of the park user’s of activity revealed 5 factors such as ‘convenience and interest factor (AF1)’, ‘park maintenance, management and use program(AF2)’, ‘visual beauty(AF3)’, ‘safety and accessibility(AF4)’ and ‘crowding(AF5)’. \circled6 Regression analysis was employed to get the predictor factors of overall satisfaction with a result of 60.0%($R^2$). The variance was explained as ‘quality of the picnic space’, ‘convenience and interest factor while using the park’, ‘park program for maintain and management in the park’, ‘visually beauty while using the park’, ‘safety and accessibility of the parks’, ‘quality of the pond’, ‘crowding’, ‘quality of the square’.

Exploring Requirements of the Smart Textiles for Bio-Signal Measurement Based on Smart Watch User Sensibility (스마트워치 사용자감성에 기반한 생체신호측정용 스마트 텍스타일의 요구조건 탐색)

  • Jang, Eunji;Kim, Inhwan;Lee, Eu-Gene;Cho, Gilsoo
    • Science of Emotion and Sensibility
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    • v.20 no.4
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    • pp.89-100
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    • 2017
  • Since smart devices are able to efficiently provide information without barriers of time and location, they are widely utilized with advent of the hyper-connected society. Especially, the smart devices have been developed in the form of wearable devices for mutual interaction between human and objects. Smart clothing, which embeds smart devices within clothes, measures and obtains a variety of bio-signals as it is in close contact with the human bodies. Conventional smart clothing generated wearers' discomfort because they were developed by simple attachment of electronic devices to clothes. Therefore, it is highly recommended to develop novel smart clothing based on smart textiles which integrate electronic devices as parts of textiles. As smart watches are currently the most available wearable devices in the market, smart watch users were selected in this study, for the purpose of investigating core needs of wearable smart device users based on the user experience and user's sensibility. Qualitative research was performed through semi-structured interview in order to obtain detailed answers about user sensibility based on smart watch user experience. After the in-depth interview, the user's sensibility was categorized into four aspects; functional, aesthetic, social, and empirical. Sensibility adjectives and key words were assigned to each aspect and their frequency was analyzed. It was the functional aspect of sensibility that the wearable device users require the most. The results of this study will be utilized as a fundamental data to develop the smart textiles required for the next generation of smart clothing which is attracting as a future wearable device.

Types of Neighborhood Environments and Life Satisfaction of Older Adults (노년기 근린환경 유형과 삶의 만족에 관한 연구)

  • Kang, Eun Na
    • 한국노년학
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    • v.37 no.3
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    • pp.669-686
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    • 2017
  • The purpose of this study is to investigate types of neighborhood environments and to verify whether the types of neighborhood environments are directly related to life satisfaction of older adults. To achieve this goal, I used'2014 National Survey on Older Koreans' data which surveyed the older adults aged 65 and over living in the community and a total of 10,281 respondents were analyzed. To determine the types of neighborhood environment, the time taken by walking from community organizations or places such as grocery stores, medical centers, administrative agencies, welfare centers, public transportation was used as an neighborhood environment indicators. As a results, there were six types of neighborhood environment: a leisure-welfare walk-limited type(20.3%), a leisure-welfare long-distance type(15.5%), a balanced proximity type(7.8%), a store-traffic type(35.8%), a traffic proximity type(10.1%), and a marginalized area type(11.3%). Compared to the balanced proximity type, older adults living in a store-traffic type and a marginalized area type were more likely to have negative life satisfaction. older adults who have higher life satisfaction were more likely to be female, more educated, get higher household income, and have a spouses or partner. Moreover, the better the health conditions, the higher the frequency of contact with children, siblings, friends and neighbors, the higher the satisfaction of life. Finding from the study highlight the importance of neighborhood environment in late life and provide implications for building age-friendly community.

Epidemiologic Studies of Reproductive Health in Male Workers (남성 근로자의 생식보건 역학연구)

  • Choi, Byeong Ju;Lee, Sanggil;Kim, Seonggyu;Sung, Jungmin;Ye, Shinhee
    • Journal of Korean Society of Occupational and Environmental Hygiene
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    • v.31 no.3
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    • pp.202-212
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    • 2021
  • Objectives: The reproductive health of female workers has been extensively investigated in South Korea and other countries worldwide. However, few studies have discussed the reproductive health of male workers. In this study, we reviewed the recent literature that reports on the effects of occupational exposure on the reproductive health of male workers and the health of their children. Methods: In May 2020 we used the PubMed search engine to search the literature over the last 10 years and chose case-control, cohort, and cross-sectional studies and reviews. We selected epidemiological studies that investigated the association between pre-pregnant occupational exposure and the reproductive health of male workers and the health of their children. We excluded case reports, non-epidemiological studies (animal experiments, cellular-level experiments, and similar articles), and studies that described postnatal occupational exposure. Results: We eventually selected 23 studies. The studies that included exclusively male workers reported that those employed in the agricultural sector or those exposed to pesticides showed lower blood levels of reproductive hormones and a high risk of lympho-hematopoietic system cancer in their children. Male workers exposed to complex organic solvents and organic compounds showed a high risk of poor semen quality, increased time to pregnancy, decreased blood levels of reproductive hormones, and a high risk of lympho-hematopoietic system cancer in their children. Male workers employed in occupations that involved significant social contact, or in the leather and livestock industries, and in occupations with high levels of exposure to lead and organic solvents showed a high risk of malignancies, including lympho-hematopoietic system cancer, neuroblastoma, and central nervous system tumors in their children. Studies that investigated both male and female workers reported that children of male smelters showed a high risk of premature birth, and children of male workers exposed to metals showed a high risk of hypospadias and cryptorchidism. Children of male welders and workers employed in the glass, ceramic, and tile industries showed a high risk of premature birth. Conclusion: The findings of this study will serve as basic data for further research on male workers' reproductive health and provide a scientific basis for the development of strategies to protect the reproductive health of males employed in high-risk occupations. Moreover, the results of this study may provide guidelines to improve the understanding of and knowledge on male workers' reproductive health.

A Research Analysis of QR code based on big data in Korea

  • Lee, Eun-ji;Kim, Soo Kyun
    • Journal of the Korea Society of Computer and Information
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    • v.26 no.9
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    • pp.189-200
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    • 2021
  • Recently, Information and Communication Technology and SMART Phone Technology have been rapidly developed. According to the increase of data use, the era of big data has come. With the approach of non-contact society, QR Codes are becoming inseparable in our lives. In this paper, we are trying to figure out the implications of QR Code research based on Big Data in Korea. The purpose of this study is to first examine the previous studies on "QR Code" and conduct an analysis on keywords by field using Big Data. Second, for data visualization WordCloud analysis and network analysis are performed on "QR Code" frequent keyword. Third, we would like to present the research direction to future researchers regarding "QR Code". In the results, First of all, research trends showed that research is on the rise and that various fields are being utilized. Second, the results of the analysis of frequent keyword resulted in similar results overall, with some differences depending on the field and year. Third, we found that the visualization results according to the frequent keyword were also analyzed in the same way as the frequent keyword analysis results. The practical implications of the theoretical findings are as follows. First, 'QR Code' needs to be studied as a means of information delivery, not as a technical aspect. Second, it can be seen that "QR Code" is developing reflecting social trends or issues. With both theoretical and practical implications, we are trying to provide the strategic ways of QR-code in future.

Choi Han-gi's Change of Ontological and Epistemological Paradigm (최한기의 존재와 인식에 관한 패러다임의 전환)

  • Rhee, Myung-Su
    • The Journal of Korean Philosophical History
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    • no.57
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    • pp.9-30
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    • 2018
  • The paradigm of existence and recognition was changed in the context of modernity in Choi Han-gi's thought, in which the resource of all things and all affairs was not li but ki and li could be guessed from ki. And there are lis in the sphere of recognition as well as in that of existence in Choi Han-gi's thought, which might be different from traditional thought system such as Neo-Confutionism. li is called Yuhaenguili in his ontological theory and Chucheukuili as one epistemological part. At anyhow there are many lis, which may be approached as the meaning of mechanism, in his philosophy. Besides there are, not only ontologically but also epistemologically, energetic factors, named as Unhwaki, whch are generating, moving, changing and altering. In his Kihak as an ki categorical thought, above all one's experience is of importance. He believed moral act, for example the expose of saving mind that was called Cheukeunjisim by Mencius, could be derived from social experience or contact. And he thought that the recognition of moral act might be achieved by the action of mysterious energy names as sinki of the essence of mind. Like these aspects, all things and all ones have their active, movable, and changeable natures in the sphere of both existence and recognition in Choi Han-gi's thought. In this way he got out of the previous ideas and presented practical and modern way of life to us.

The Economic Effect of E-Commerce during COVID-19: A Case Study through "H" Shopping Mall's Garlic Sales (COVID-19에 따른 전자상거래의 경제적 효과에 관한 연구: 'H' 쇼핑몰의 마늘 사례를 중심으로)

  • Han, JinAh;Kim, JeongYeon
    • The Journal of Society for e-Business Studies
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    • v.26 no.4
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    • pp.81-93
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    • 2021
  • Through processors, wholesale markets, intermediate sellers, and retailers, agricultural products have been distributed in a multi-level customary manner for a long time as they are easy to deteriorate and no not have a standardized system of size and quality. However, with the advancement of Internet networks and logistic services during the 2000s that facilitated the development of offline markets, and the rise of the non-contact purchase preference in direct response to COVID-19, previous offline consumers flowed into the online market to purchase agricultural goods. In other words, the volume of online agricultural transactions exploded since the pandemic. Against this social backdrop, this study focused on the difference in distribution costs as a result of converting from conventional offline distribution channels to online channels, and analyzed the reduced distribution costs through a case study of garlic sales on the online platform "H" shopping mall. The analysis found that considerable economic effects occurred, some of the effects being an approximate 39% decrease in distribution cost when comparing direct online transactions of the online shopping mall with other more traditional means, a reduced distribution cost rate of approximately 28%p, and increased profit for farmers.