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.
The purpose of this study was to understand the meaning and essence of leisure activities experienced by older females in rural communities and, in reference to that, to provide basic data to help develop health-promoting nursing intervention programs by investigating the indications of leisure and its effects on older individuals' life process. The qualitative research method of van Manen's Hermeneutical analysis and Phenomenological research are useful to study the true meaning and nature of experiences inherited from their language, belief, culture and social traditions. Consequently, the leisure that the women from the rural community were found to have experienced came down to a total of seven themes or activities: (a) to overcome loneliness through social interaction and get-togethers; (b) to achieve balance between body and mind by engaging in physical activities; (c) to try and help ease the burden on one's children; (d) to simply kill time; (e) to find oneself small pleasures; (f) to learn something new and feel proud; and (g) to live one's life as maintaining communication with the outside world. The study herein confirmed that the female elderly in rural area spend their free time on appreciating the nature, maintaining health and social interaction and hanging around with the peers of similar age to overcome economic woes and the feeling of estrangement unique in the social and economic context of rural communities.
Purpose: This study was conducted to assess the nutritional status of female marriage immigrants attending Korean language class in Gwangju, Korea by analyzing daily food and nutrient intake. Methods: Eighty-three female immigrants completed a survey. Anthropometric measurements were obtained, and dietary food intake was assessed using a 1-day 24 hour recall method. Results: The average length of residence in Korea was 5.3 years, and mean age of subjects was 31.0 years old. The home countries of subjects were Vietnam (50.6%), China (24.1%), Philippines (13.3%), and others (12%). Due to the length of residence, there were significant differences in body weight (p < 0.05), BMI (p < 0.05), percent body fat (p < 0.05), and diastolic blood pressure (p < 0.05). The subjects who were 30~49 years old consumed more vegetables and less seaweed than the subjects who were 20~29 years old. The other kinds of consumed foods were similar among groups in different age groups or lengths of residence in Korea. Average energy intake of subjects was 1,641.0 Kcal. The group with less than 5 years of residence showed higher cholesterol intake than the group with 5 or more years of residence in Korea (p < 0.05). There was no significant difference in nutrient intake between the groups of different age or length of residence. There was a positive association among dietary cholesterol intake and consumption of eggs, milk. and dairy products, and blood pressure. Conclusion: The study shows that length of residence affects rate of obesity and nutritional status. Further extensive research is needed to understand the effect of dietary changes and nutritional status of female marriage immigrants as well as for their successful adaptation to develop a more active and long-term nutrition education program.
Introduction: Stroke refers to a sudden brain disease that results in disorders in the anatomy of the brain. The cause is a sudden circulatory disorder of the cerebrovascular system that creates a consciousness disorder and hemiplegia. Despite aggressive treatment after the onset, stroke is a social problem because the patient has difficulty in recovering from sequelae that can include limb movement disorders, language disorders, and emotional disorders. In this study, we describe the effect of traditional Korean medicine treatment on the sequelae in a subacute cerebral infarction patient admitted to a Korean medical hospital. Case presentation: A 67-year-old male patient was diagnosed with cerebral infarction circa 2005, and his condition had not improved. Around March 15, 2018, he experienced the sudden onset of a cerebral infarction in his daily life. This was confirmed by a brain MRI, and he was hospitalized at other hospitals, but he showed no improvement. We conducted a manual muscle test (MMT) to evaluate the patient's exercise and strength. His gait level was measured to evaluate his degree of walking. He was treated with Bojungikgi-tang and acupuncture twice a day. After 34 days of inpatient treatment, the patient's exercise strength improved from Grade 2+~Grade 3 to Grade 3+ determined by the MMT, and his walking ability improved from Gait Level 3 to Gait Level 4. Conclusion: The findings of this study indicate that acupuncture and herbal medicine treatment can help treat patients with hemiplegia due to cerebral infarction.
Objectives This study aimed to assess the effects of oral administration of deer antler extracts on an osteoporosis-induced animal model. We analyzed the results of using deer antler single extracts on animal models with osteoporosis through a systematic review and meta-analysis. Methods We included osteoporosis studies in animal experiments that administrated deer antler extracts orally. We searched the following 13 databases without a language restriction: PubMed, EMBASE, Cochrane Library, Cumulative Index to Nursing and Allied Health Literature (CINAHL), China National Knowledge Infrastructure (CNKI), Wanfang, Korean Medical Database (KMbase), National Digital Science Library (NDSL), Korean Traditional Knowledge (Koreantk), Oriental Medicine Advanced Searching Integrated System (OASIS), Research Information Sharing Service (RISS), Korea Institute of Science and Technology Information (KISTI), and Koreanstudies Information Service System (KISS). We used Systematic Review Centre for Laboratory Animal Experimentation's risk of bias tool for assessing the methodological quality of the included studies. Results A total of 299 potentially relevant studies were searched and 11 were included for a systematic review. Nine studies used a single deer antler extract. A study compared the effects of single extracts of deer antler and antler glue, while another study compared the effects of three single extracts of deer antler, old antler, and antler glue. For evaluating the intervention effect, bone mineral density (BMD) was measured as the primary outcome, while the histomorphometric indicators of the bone and serum alkaline phosphatase and osteocalcin levels were used as the secondary outcome variables. On conducting a meta-analysis of studies on single deer antler extract, BMD was observed to be significantly increased compared to that in control group (standardized mean difference [SMD]=2.11; 95% confidence interval [CI]=1.58~2.65; Z=7.75; p<0.00001; I2=56%). As a result of meta-analysis, according to the concentration of deer antler, the group with high concentration showed statistically significantly higher BMD than the group with low concentration (SMD=1.28; 95% CI=0.74~1.82; Z=4.63; p<0.00001; I2=9%). Conclusions The research shows that the deer antler extracts have significant anti-osteoporotic effects on the osteoporosis-induced animal model. However the studies included in this research had a high methodological risk of bias. This indicates the requirement of considerable attention in the interpretation of the study results.
Journal of The Korean Association For Science Education
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v.37
no.3
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pp.417-427
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2017
Media is the medium that impart information beyond time and space. They refer to characters or images that serve as means to convey information. From old media such as newspapers and television to new media such as the internet and smart phones, media has developed cumulatively with the development of technology. The goal of media education is to develop the understanding of the properties of media, the ability of critical interpretation of media and selective acceptance. Furthermore it is to cultivate the ability to express meaning creatively and communicate through media. I carried out 'the research of Korean classroom instruction models based on media' with Korean language and social studies education researchers from July 2016 to December 2016. This study is a fundamental study of the project. Based on 58 research papers published between 2006 and 2016, research trends and factors were extracted through literature studies related to media-based science learning. The Result has shown that the studies related to media-based science learning is on the rise, and more than half of all researchers studied about elementary school students. The studies were divided into research on students, research on teachers and pre-service teachers, research on smart devices or media contents, and research on the development of digital textbooks. Among the four variables, there were many researches related to students' cognitive and affective development, and the development and application of media contents.
This study was conducted to measure the degree of Korean Gender Egalitarianism among the students from six different high schools(132 girls, 127 boys) in Sunchon si, Chunnam province from Dec. 7th to Dec. 15th in 1999. The survey on gender egalitarianism was done in relation to the public understanding of the subject matter, parents' hug times, and parent's communication skills. Korean gender egalitari- anism scale was standardized by Korea Woman Developmental Institutes in 1999. The data was analyzed by SAS program. Results were as follows: 1) Generally, girls are more conscious of gender egalitariannism than boys(t=-13.79, p<.001). Above all, the younger the students are, the more they feel equal(F=8.01, p<.01). In sibling cases, two sisters have the highest level of gender egalitarianism while two brothers have the lowest level of gender egalitarianism(F=9.20, p<.001). Students who come from religious families are more inclined to demonstrate gender equality(t= 2.42, p<.05). However, there is no difference in relation to the parents' ages or academic background or harmony within the family. 2) There is no difference that girls and boys generally communicate with their parents. In ages, 17 years old students communicate more than 18, 19 with parents(father F=3.97 p<.05ㆍmother F=5.31, p<.01). That is, the younger students can communicate with their mothers more often than the older ones. In sibling cases, two sisters have more openly communication to parents while two brothers have(F=2.84, p<.05). Students communicate with their parents regardless of parents' academic background. But those from the family in harmony have more open chance to communicate than those who are not in hamony(father F=21.66, p<.001ㆍmother F=13.37, p<.001). They can comm -unicate with their parents better when their fathers hug them than when they didn't get hugs(father t=-4.76, p<.001ㆍ mother t= -2.34, p<.05). They can also communicate with their patents better when their mothers hug them once or more than when they didn't get hugs(father t=-3.78, p<.001ㆍmother t=-5.64, p<.001). 3) There is no difference whether the father hugs or not, but the mother's hug is very important because students whose mothers hug them once or more have significantly more gender egalitarianism than those students whose mothers didn't do(t=-3.98, p<.001). Based upon these results, it is recommended that we reconsider the role of gender in the socialization of high school students and also include gender egalitarianism in sex education. In this context, further study should be done for the improvement of students' communication within the framework of egalitarianism based upon parents' hugs(semi-language). Continued study is especially important in regards to the mother's hug and its enhancement of the students' gender egalitarianism.
Objective : Health literacy (HL) is, defined as "the degree to which individuals have the capacity to obtain, process, and understand basic health information and services needed to make appropriate health decisions." Being old is one of the main risk factors with limited health literacy. This study aims to adapt Chew's health literacy scale into the Korean language and validate the scale for the use of the elderly. Methods : Data were drawn from the '2016 Seoul Survey on Elderly Health and Functional Assessment, which includes a total of 725 people aged 60 to 79. The sample was randomly divided into two groups for reliability and validity tests of the modified Chew's scale of 8 items. The Korean version of the questionnaire was developed by group translation, expert reviews, and forward-backward translation. Exploratory and confirmatory factor analyses were conducted to assess and validate the factor structure of the scale. Results : Results suggest the two-factor structure ("Understanding" and "Applying" of HL) with 8 items. Exploratory factor analyses of the first sample (n=400) revealed that the internal reliability of the scale was high (Cronbach's ${\alpha}=.904$). Principal axis factoring extracted two factors ("Understanding" and "Applying" of HL) and explained 78.3% of total variance (KMO=.872, Bartlett's ${\chi}^2=2431.3$, df=28, p<.001). Confirmatory factor analysis of the second sample (n=325) was performed and the two-factor model was supported (GFI=.960, CFI=.979, TLI=.969, RMSEA=0.075). Conclusions : This study provides evidence for adequate criterion and validity of the health literacy scale for the community dwelling elderly in Korea.
To understand the process of publication and distribution of ancient Korean novels under the Joseon dynasty and Japanese occupation, collecting information on the publication of various printed materials and estimating their publication date through various methods is extremely important. In this study, the characteristics and differences that appeared in the woodblock printing process were investigated using image comparison among editions of the Honggildongjeon (Tale of Honggildong) of Wanpanbon (完板本) (published in the Jeonju region) with other commercial editions of the ancient Korean novels. Additionally, the publication year of each edition was estimated. Printed images of different versions were compared with those of a recently discovered original series version and the changes in the process of carving replacement woodblocks were investigated and summarized. Various phenomena, such as differences in fonts, borderline shapes and integrity of printed characters, appearing in woodblock prints provided useful information for determining chronological relationships between the prints and estimating the approximate publication year for each edition. The various characteristics of woodblock printing obtained through this study are expected to serve as a reference for estimating the relationship between the printing method and the approximate publication date of old books and paper-based printed historical records.
The purpose of this study was to develop an integrated early childhood music education program using storytelling songs and to examine its possible effects by analyzing musical expression ability, language expression ability and creativity. In order to verify the effect of the program developed in the study, 68 4-year old preschoolers were selected from 2 preschools to be divided into an experimental group and a control group. The experimental group was given the integrated music education program 16 times in total (two times a week for 8 weeks). The data were analyzed by t-test. The results of this study were : First, it was found that the integrated early childhood music education program using storytelling songs had a positive effect on children's musical expression ability and linguistic expression ability. Second, it was found that the integrated early childhood music education program using storytelling songs had a positive influence among the sub-areas of creativity.
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