• Title/Summary/Keyword: 신생아기의

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A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.2
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    • pp.58-62
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    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

The Relation of Maternal Stress with Nutrients Intake and Pregnancy Outcome in Pregnant Women (임신부의 스트레스와 영양상태 및 임신결과와의 관련성)

  • Kim, Yi-Jung;Lee, Sang-Sun
    • Journal of Nutrition and Health
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    • v.41 no.8
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    • pp.776-785
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    • 2008
  • Maternal stress was one of the common symptoms that pregnant women could have experienced during pregnant period. The purpose of this study was to investigate the relation of maternal stress with maternal nutrients intake and pregnancy outcome. Subjects were 248 pregnant women and were recruited at two hospitals in Seoul area. Individual stress levels were divided by the stress scores (total 41 scores), as low stressed group (< 12) and high stressed group (${\geqq}12$). The social characteristics, nutrient intake, anthropometric measurements and pregnancy outcome were compared between low stressed group (LSG) and high stressed group (HSG) to recognize risk factor of maternal stress. We found that subjects experience stress by various factors which were concern about newborn (40.4%), concern about health (28.8%), economic difficulties (13.2%), depress (10.1%), family relationship (2.9%), concern of house work (2.5%), human relationship (2%). In HSG, unemployed rate (p < 0.05) and pre-pregnancy BMI (p < 0.05) were higher than in LSG. Family size in HSG was larger than that in LSG (p < 0.01). Doing regular exercise with the light activity level was significantly higher in LSG (p < 0.05). The nutrient intake in LSG was slightly higher than that in HSG, but not statistically significant. Pregnancy outcome was not significantly affected by the maternal stress. In conclusion, the risk of maternal stress may be related with a life style during pregnancy. Therefore, life style for maternal stress control, such as weight control and regular exercise is recommended to prevent maternal stress.

Healthy Korea 2010 : Role of the Health Educator (Healthy Korea 2010추진과 보건교육 인력 활용 전략)

  • Choi, Eun-Jin
    • Proceedings of The Korean Society of Health Promotion Conference
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    • 2004.10a
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    • pp.89-109
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    • 2004
  • The Korean Government has produced the Health Plan 2010 aimed at setting up healthy Korea objectives, policies on preventing chronic diseases, reshaping the country's health and medical infrastructure. The policy goal targets the people's healthy life expectancy at 75 by 2010, and includes healthy life practice measures including health education, health improvement services, and disease management measures, in achieving the objectives. Also, the plan provides life cycle-based health improvement and disease prevention services, as well as pushes ahead with projects with greater ripple effects in each area. To this end, the government is simultaneously pushing to operate an experts-centered health promotion committee and establishing the infrastructure including the augmentation of national health improvement funds. Through its Health Plan 20 I 0, the Korean Government will exert efforts to achieve its policy objectives as addressed in the measures by enhancing the national potential health and providing systematic disease prevention services.

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GENERAL STRATIGRAPHY OF KOREA (한반도층서개요(韓半島層序槪要))

  • Chang, Ki Hong
    • Economic and Environmental Geology
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    • v.8 no.2
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    • pp.73-87
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    • 1975
  • Regional unconformities have been used as boundaries of major stratigraphic units in Korea. The term "synthem" has already been propsed for formal unconformity-bounded stratigraphic units of maximum magnitude (ISSC, 1974). The unconformity-based classification of the strata in the cratonic area in Korea comprises in ascending order the Kyerim, $Sangw{\check{o}}n$, $Jos{\check{o}}n$, $Py{\check{o}}ngan$, Daedong, and $Ky{\check{o}}ngsang$ Synthems, and the Cenozoic Erathem. The unconformites separating them from each other are either orogenic or epeirogenic (and vertical tectonic). The sub-$Sangw{\check{o}}n$ unconformity is a non-conformity above the basement complex in Korea. The unconformities between the $Sangw{\check{o}}n$, $Jos{\check{o}}n$, and $Py{\check{o}}ngan$ Synthems are disconformities denoting late Precambrian and Paleozoic crustal quiescence in Korea. The unconformities between the $Py{\check{o}}ngan$, Daedong, and $Ky{\check{o}}ngsang$ Synthems are angular unconformities representing Mesozoic orogenies. The bounding unconformities of the $Ky{\check{o}}ngsang$ Synthem involve non-conformable parts overlying the Jurassic and late Cretaceous granitic rocks.

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Development and evaluation of Pre-Parenthood Education Program for high school students based on Home Economics subject (고등학생을 위한 가정교과 기반 예비부모교육 프로그램 개발 및 평가)

  • Noh, Heui-Yeon;Cho, Jae Soon;Chae, Jung Hyun
    • Journal of Korean Home Economics Education Association
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    • v.29 no.4
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    • pp.161-193
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    • 2017
  • The purpose of this study was to develop and evaluate pre-parenthood education program(PPEP) based on Home Economics(HE) subject for high school students. The development and evaluation of PPEP based on HE subject in this study followed ADDIE model except implementation through 4 processes such as analysis, design, development, and evaluation. First, program development directions were set in three aspects such as 'general development', 'contents', and 'teaching and learning methods'. Themes of the program are 11 in total such as '1. Parenting, what is being a parent', '2. Choosing your spouse, happy marital relationship, the best gift to your children', '3. Pregnancy and birth, a moving meeting with a new life', '4. Taking care of a new born infant for 24 hours', '5. Taking care of infants, relationship with my lovely baby, attachment', '6. Taking care of young children, my child from another planet', '7. Parents and children in healthy family', '8. Parent-child relationship, wise parents to make effective interaction with their children', '9. Parents safety manager at home,', '10. Practice to take care of infants', and '11. Practice of community nurturing support service development'. In particular, learning activities of the program have major characteristics such as 1) utilization of cases including practice problems related to parenting, 2) community exchange activities utilizing learned knowledge and techniques, 3) actual life project activities utilizing learning contents related with parenting, 4) activities inducing positive changes in current life of high school students, and 5) practice activities for the necessities of life such as food, clothing and shelter supporting development of children. Second, the program was developed according to the design. Teaching-learning plans and materials for 17 classes were developed according to 11 themes. The developed plans include class flow and teacher's reference. It starts with receiving a class-related message from a virtual child at the introduction stage and ended with replying to the message by summarizing contents of the class and making a promise as a parent-to-be. That is the basic frame of class flow. Learning materials included various plans and reports necessary for learning activities and they are prepared in details so that they can be play the role of textbooks in regular curriculum. Third, evaluation of developed program was executed by a 5 point Likert scale survey on 13 HE experts on two aspects of program development process and program development results. In the evaluation of development process, mean value was 4.61 and index of content validity was 97.4%. For development results, mean value was 4.37 and index of content validity was 86.9%. These values showed that validity in the development process and results in this study was highly secured and confirmed that PPEP based on HE was appropriate and valid to enhance parent qualifications of high school learners.