• Genomics & Informatics
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• 제20권3호
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• pp.28.1-28.7
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• 2022

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

• 한국사회복지학
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• 제44권
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• pp.146-177
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• 2001

One of the difficulties of female-headed families face is economic hardship. Low-income single mothers work long hours, become isolated and feel burdened for dual roles. And many of them don't have relatives to share parenting roles. As a result, children of low-income female-headed families are easy to be neglected and left to form a delinquency-prone group in neighborhood. Traditionally, it has been viewed that children in female-headed families have problems due to the loss of father role. However, study indicates that these children can adjust well if the relationship between mothers and children is consistent and adequate. An Intervention program for low-income female-headed elementary children was developed and delivered in two community social welfare centers. The purpose of the program is to raise self-esteem. Two goals were 1) management of daily living habits and 2) improvement of family relations. Social workers maintained contact with mothers to talk about children's behaviors and to prompt hugging and touching. In addition, workers helped children to form good relationships with peers and school teachers. Children were satisfied with the program. Their family relations were improved statistically significantly after the program(wilcoxon signed rant test z=-2.934 p<.05). However, their self esteem were not improved significantly (wilcoxon signed test z=-1.173 p>.05). Qualitative analysis of each children were also discussed. The implications of the study are the followings: Intervention programs need to be delivered separately for low-grade and high grade elementary children because they have different developmental needs. The program also need to include education on sex and marriage as well as aggression reduction. Society needs to provide more support to single mothers for their personal and parenting needs.

• 동의신경정신과학회지
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• 제21권4호
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• pp.219-231
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• 2010

Objectives : School refusal is usually considered as individual's behavioral problem. These days. however. the adolescents' school refusal needs some kind of medical approaches because it is related to mental disorder of the adolescents. Due to too much pressure and stress from the competition between classmates and from good performance in school. the number of adolescents who refuse to go to school is increasing. Despite this circumstance. school refusal is neither regarded as a single independent disorder nor endorsed as an officially classified disease. which makes difficult to conduct research on this issue and to establish standardized treatment for it. In addition. there is a lack of research on this topic. especially in oriental medicine. so there is no a case report or study on school refusal. This study is trying to comment on school refusal from the perspective of oriental medicine. Methods : We tried to examine the effect of oriental medicine treatment for school refusal with four adolescent cases. The patients commonly have at least more than one mental disorder (including depression disorder. anxiety disorder. and anorexia nervosa). have some problem with the relationship with their family. in particular with mother. do not have father or not be loved by their father. and have irregular eating habits. Thus. we diagnosed them as qi transforming into fire (氣鬱化矢) spleen-stomach deficiency cold (脾胃虛寒) and heart blood deficiency (心血虛) due to stress from the family issues and unhealthy eating habits. The patients received supportive therapy. family therapy. etc among many oriental mental treatments and their progress had been observed through hospitalization and outpatient treatment. Results : All four cases were reported positive progress on their symptoms and started coming back to school. We also examined whether they were well fitting into the school while they received outpatient treatment. and the results show that all four patients continue to settle down in normal school life. Conclusions : This study closely reviewed the mental disorder of school refusal cases and showed that the Oriental medical treatment was effective in helping the patients come back to school. More future research is required to better treatment for school refusal cases in oriental medicine.

• 한국연극학
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• 제48호
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• pp.85-125
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• 2012

Geun Hyung Park is one of the playwrights who consistently pursues his unique world of play. One of the characteristics that is constantly discovered in Park's plays is the motif of 'family.' Park chooses family as the motif in most of his work. Park particularly emphasizes 'family life' rather than 'individual life' to focus on the internal problems of families. Therefore, the motif of family in Park's plays takes a very important position in the content and theme. The Korean society imposes unique value on families and possesses a strictly obstinate family ideology. Park observes distorted family relations or individuals who cannot be happy within their families to identify the problems related to the family ideology that is deeply rooted in the Korean society. This is one of the important backgrounds for which Park is constantly dealing with 'family life.' This study selected five of Park's most famous plays to specifically examine Park's critical understanding of family ideology. First, his criticizes extreme family egoism by depicting a family that cannibalizes people to keep the family full. Park chooses 'absurd time and space' and the extreme subject of 'human flesh' to warn his audiences about the awful consequences of family egoism. His , which is the only piece that deals with family history among the five pieces selected, criticizes Korea's unique family-centered ideology by humorously depicting the history of the Cho family that is all about maintaining and worshipping the its clan. He reveals the unethical and hypocritical attitudes of the Cho family for the audiences to reconsider the family-centered ideology of the Korean society. In , he talks about the son and the father who lose his ethical authority and fail to perform his paternal responsibilities to criticize the traditional family ideology of patriarchism and suggests the pessimistic future of patriarchism. contrasts a blood-related family with an irresponsible father and a quasi-family to criticize the identity of blood-related families. In , Park depicts a 'smelly house' of a family in agonizing relations to deny the family myth and the maternal myth. He clearly shows how the ideals of family myth and maternal myth are distant from the reality. In result of this study, Park's criticism of family ideology appears in various forms. He comprehensively criticizes both the general family problems and the unique family issues of Korea. The family ideology of Korea is currently undergoing a radical change. It has been long since the traditional family ideologies have exposed problems to show the signs of crisis. Also, there have emerged various forms of families, including single-parent families, one-person families, adoption families, and multi-cultural families. In this respect, Park's critical understanding of family ideologies allows you to see the obvious family forms from a new perspective and greatly contributes to awakening the essential questions about families. Park's work is noticeable among the various artistic and literature pieces that deal with family issues because of his extraordinary skills to capture the key issues inherent in the problems of family ideologies.

• 한국노년학
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• 제30권1호
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• pp.241-260
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• 2010

이 연구의 목적은 쪽방지역에 홀로 사는 남성 노인의 삶의 경험이 갖는 의미와 본질을 밝힘으로서 이들의 경험에 대한 좀 더 풍부한 이해를 하는 것이다. 연구 참여자는 Y 쪽방지역에 거주하는 65세 이상 독거 남성 8명이다. 의도표집방법과 눈덩이 표집 방법을 사용하였으며, 포커스 집단 면담과 개별심층면담을 통해 자료를 수집하였다. 자료의 분석은 Giorgi의 4단계에 의거하였다. 연구결과 4개의 구성요소와 16개의 하위구성요소가 도출되었다. 쪽방에 홀로 사는 남성 노인들의 삶의 4가지 구성요소는 <마음 둘 곳 없어 외로운 신세: 아들, 남편, 아비구실 못해 가족을 지우고 살아옴, 몸은 머물지만 정들지 않는 쪽방 살이, 하루짜리 술친구에 머무는 사귐, 외로움을 안고가기>,<인색한 지원에 근근이 살아감: 쪽방처럼 사방이 막힌 인생살이에 우울함, 수급자라 휘둘리고 무시 받아 속상함>,<편견과 차별에 주눅 드는 삶: 아쉬워도 손 벌리지 못함, 가족을 꾸리지 못해 후회되고 냉대 받음, 다가가지 못하는 바깥세상 >,<사람노릇하며 살다가기: 홀로의 삶을 건사하여 독립을 유지하려함, 빚 갚는 마음으로 도움주기, 하릴없이 보내는 나날이 고역이라 일을 하고 싶음, 쪽방 사람들과 다르게 살아가기, 어른도리 하기, 마음을 다스려 현재의 삶을 수용함, 폐가 되지 않을 죽음을 준비하기>로 나타났다. 이러한 결과를 바탕으로 쪽방지역에 홀로 사는 남성 노인들의 삶의 경험에 대한 의미를 논의하고 사회복지적 함의와 후속 연구를 위한 제언을 제시하였다.

• 대한소아치과학회지
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• 제42권1호
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• pp.62-68
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• 2015

과잉치는 영구치열 또는 유치열에서 정상적인 개수의 치아 외에 추가적으로 발생한 치아를 말한다. 과잉치는 인접 치아와 구조물에 여러 가지 영향을 미칠 수 있기 때문에 영향을 미치기 전에 과잉치를 조기에 발견하여 관찰하며 치료계획을 세우는 것이 중요하다. 과잉치의 원인은 아직 정확하게 밝혀지지 않았으나 유전 및 환경적인 요소들이 기여한다고 추측이 되고 있다. 과잉치가 발생하는 경우에 하나의 과잉치가 발생하는 경우가 대부분이고 다수의 과잉치가 발생하는 경우에는 증후군의 일부로서 발생하는 경우가 많다. 증후군과 관계없이 여러 개의 과잉치가 발생하는 것은 매우 드물다. 한 남성과 그의 세 아들에게서 소구치 부위에 비증후군성 다수 과잉치가 발견되었기에 이 증례들에 대해 보고하고자 한다. 이 증례들은 과잉치 발생에 있어서 유전이 큰 영향을 미치며 가족력이 과잉치 조기발견의 중요한 단서가 될 수 있다는 것을 보여준다.

• 보건교육건강증진학회지
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• 제24권4호
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• pp.65-85
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• 2007

Objectives: The purpose of this study was to identify the major health problems of poor children, and to provide basic information for developing health care program for low income children in underserved area. Methods: Health data were collected through medical examination(KAHP Social Welfare Service) and analysed for 3,081 poor children in 106 local children's centers nationwide. Results: 1. The mean height and weight of poor children were lower than those of nonpoor children. The differences were increased by age. 2. The rate of relative low weight was higher in poor children than in nonpoor children. On the contrary, The obesity rate was higher in nonpoor children than in poor children. 3. Poor children were more likely to have vision problem, anemia, high blood pressure, and oral health problems than nonpoor children. 4. The Health problems of children were the most serious in single father family. Conclusion: In order to improve children's health status, health promotion program for poor children should be developed and implemented. Health promotion program should include activities including regular health examination, home visiting, nutrition support, managed health care, health counseling and education. And the community support network was suggested for the efficacy of the program, including home, school and community.

• Asian Pacific Journal of Cancer Prevention
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• 제17권1호
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• pp.139-145
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• 2016

Environmental tobacco smoke (ETS) is a major public health problem for all ages. Despite the high prevalence of smoking among the Saudi population, there is limited information about levels of urinary cotinine in Saudi children exposed to SHS. The aim of the study was to assess the exposure of schoolchildren to ETS, and measure their urinary cotinine levels. Multistage cluster sampling was carried out, where schoolchildren from 4 schools were randomly chosen from primary schools in Taif city. A questionnaire including questions on SHS exposure and smoking rules in the residence were sent to students parents/guardians. Urine samples were taken and analyzed for total cotinine using chemiluminescent immunoassay. Of the studied children, 38.4% had a smoking father, 61.8%, 41.2% and 49.3% of them were exposed to ETS indoors, outdoors and both indoors and outdoors respectively. The mean urinary cotinine was significantly higher among children exposed to ETS compared to unexposed children. Urinary cotinine levels in children with both indoor and outdoor exposure was significantly higher compared with its level in children with single exposure. A significant positive correlation was found between urinary cotinine concentrations and the number of cigarette packs smoked by parents, and the number of smokers in the residence. The mean urinary cotinine level was significantly higher in children who reported no smoking rules at the residence.. The study revealed a high exposure of Saudi children to ETS. An antismoking media awareness campaign on the harmful effects of ETS should be carried out, in addition to family counseling programs targeted to parents to protect their children from ETS.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.5-9
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• 2016

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2 ) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis. The computed tomography angiogram of the younger sister showed features of midaortic dysplastic syndrome. The brother had more prominent joint involvement than the sister. Their father (38 years) was also affected by uveitis; however, only minimal skin involvement was observed in his case. The paternal aunt (39 years) and her daughter (13 years) were previously diagnosed with sarcoidosis. Mutational analysis revealed a novel c.1439 A>G mutation in the NOD2 gene in both siblings. The novel c.1439 A>G mutation in the NOD2 gene was found in a familial case of BS. Although BS is rare, it should always be considered in patients presenting with sarcoidosis-like features at a young age. Early diagnosis of BS and prompt multisystem workup including the eyes and joints can improve the patient's outcome.

• 한국학교ㆍ지역보건교육학회지
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• 제11권2호
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• pp.13-28
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• 2010

Objectives: The purpose of this study was to examine health status and health behavior of adolescents by socioeconomic characteristics. Methods: Secondary analysis of the 2008 Korea National Health and Nutrition Examination Survey was conducted for 836 adolescence respondents. Results: First, the score of health status was 3.75 and high in 12-15 ages, living together with parents and private medical insured person. The score of oral health status was 2.85 and high in 12-15 ages, employed health insured, living together with parents. Second, dental treatment need was high in female, low income and dental checkup high in 12-15 ages and high income. Influenza vaccination was high in 12-15 ages. Diet contents was good in high income, living together parents and private medical insured and having breakfast was high in male, 12-15 ages, high income, living together with parents and private medical insured person. Third, smoking experience was high in male, low income, living together with single father or mother and drinking age was high in high income family. Forth, sinusitis was high in high income and small pox was high in low income. Conclusion: There might be many differences in the health status and health behavior of adolescents by sex, age, house income, type of family, private medical insurance. Our findings suggest that the need to develop appropriate health education program for high health problem behavior and intervention strategies for socioeconomic specified groups at greater risk.