• Journal of Genetic Medicine
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• 제18권1호
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• pp.70-74
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• 2021

Cohen-Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to Weaver syndrome. CGS manifests as an overgrowth and intellectual disability, in addition to the characteristic facial features and organ anomalies. CGS has been reported in only 11 unrelated patients since 2015. A girl aged 6 years and 3 months presented with seizures. She had macrosomia, a dysmorphic face, and intellectual disability. Her mother and younger sister and brother also had macrosomia, intellectual disability, and similar facial features; additionally, her mother experienced seizures and had an arachnoid cyst, while her siblings had valvar pulmonary stenosis. Whole-exome sequencing for the proband revealed a mutation of EED (c.581A>G, p.Asn194Ser), which was also verified in the mother and both siblings using Sanger sequencing. This is the first report of familial CGS.

• 한국동물학회:학술대회논문집
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• 한국동물학회 1999년도 한국생물과학협회 학술발표대회
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• pp.139.1-139
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• 1999

No Abstract, See Full Text

• Journal of Preventive Medicine and Public Health
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• 제43권2호
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• pp.159-165
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• 2010

Objectives: We evaluated the reliability of the possible covariates of the baseline survey data collected for the Epidemiological Investigation on Cancer Risk Among Residents Who Reside Near the Nuclear Power Plants in Korea. Methods: Follow-up surveys were conducted for 477 participants of the cohort at less than 1 year after the initial survey. The mean interval between the initial and follow-up surveys was 282.5 days. Possible covariates were identified by analyzing the correlations with the exposure variable and associations with the outcome variables for all the variables. Logistic regression analysis with stepwise selection was further conducted among the possible covariates to select variables that have covariance with other variables. We considered that these variables can be representing other variables. Seven variables for the males and 3 variables for the females, which had covariance with other possible covariates, were selected as representative variables. The Kappa index of each variable was calculated. Results: For the males, the Kappa indexes were as follow; family history of cancer was 0.64, family history of liver diseases in parents and siblings was 0.56, family history of hypertension in parents and siblings was 0.51, family history of liver diseases was 0.50, family history of hypertension was 0.44, a history of chronic liver diseases was 0.53 and history of pulmonary tuberculosis was 0.36. For females, the Kappa indexes were as follow; family history of cancer was 0.58, family history of hypertension in parents and siblings was 0.56 and family history of hypertension was 0.47. Conclusions: Most of the possible covariates showed good to moderate agreement.

• 대한물리의학회지
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• 제11권3호
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• pp.111-118
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• 2016

PURPOSE: The aim of this study was to examine the ethical values of physical therapy. This study was launched to establish a foundation for this field of study by gathering data about current topic of ethical values in the field of physical therapy. METHODS: This investigation was conducted with 900 students from seven different universities in the Republic of Korea (three, four-year colleges. The methodology of this research was directed at revamping and supplementing ethical codes in the Korean Physical Therapy Association and establishing a set of ethics-related questions as inspired by the studies conducted by Youk and Choi. Each question was assigned a different point-value according to the standards of measurement that we established. RESULTS: The scores of participants and their sibling status, it appears that whether participants had siblings did significantly impact their ethical outlook. The scores based on sibling one and two siblings, more than three siblings, no sibling were 29.42, 29.03, 28.25, and 28.19, respectively (p<.05). But in examining the average ethics scores with regards to reported past experiences with ethics education, we can see that past experience significantly impacted the results of the study on medical ethics perceptions. The scores corresponding to responses that one did or did not have prior experience were 29.40 versus 28.99. CONCLUSION: It is crucial to assure that physical therapy students receive well-founded information and proper ethical value. We suggest that create an ethics education program to enhance physical therapists and physical therapy students.

• 성인간호학회지
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• 제17권1호
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• pp.3-11
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• 2005

Purpose: This study was conducted to investigate quality of life according to social support of elderly in the rural area. Method: The subjects of this study were 199 people aged over 60 who had been living in three rural areas. Date was collected through questionnaires from July 10th, to August 10th, 2003. Result: The most socially supportive people they answered were friends(80.9%), followed by children(74.9%), neighbors(71.9%), siblings(55.8%), spouse(53.3%), in descending order. Mean social support score for spouse was 13.36, for children 13.27, for friends 11.40, for neighbors 10.21, for siblings 10.20. A comparison of the average grade points per items according to the offerers of social support revealed spouse support(13.36 out of 18), children support(13.27), friends support(11.40), neighbor support(10.21), siblings support(10.20). The average of the quality of life score was 132.26 out of 220. A comparison of the average grade points per items within sub-areas of quality of life revealed the highest score of neighbor relationships(4.29 out of 5.00) and the lowest score of economic conditions (2.61) Quality of life scores correlated positively with social support scores(r=.734, p<.001). Variables significantly influencing quality of life were spouse support(36.1%), neighbor support (5.1%), age(2.2%), religion(1.7%). These variables explained 45.1% of the variance in quality of life. Conclusion: Social support for elderly people in rural areas identified this as a greatly effective factor for their quality of life. Therefore, it is necessary to develop health promotion programs connected with social support in order to enhance the quality of elderly people in rural areas.

• Clinical and Experimental Pediatrics
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• 제52권5호
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• pp.611-614
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• 2009

전신 홍반 루푸스는 자가 항원에 대한 자가 항체를 생성하여 염증을 일으켜 다양한 기관에 손상을 주는 자가 면역 질환이다. 발병 원인은 잘 알려져 있지 않으나, 전신 홍반 루푸스 환자의 가족 중에 전신 홍반 루푸스가 일반인보다 20배 이상 발병 위험이 높아 유전적인 요인이 관련되어 있을 것으로 생각된다. 저자들은 형제에서 발병한 가족성 전신 홍반 루푸스 증례를 경험하였고, 전신 홍반 루푸스와 연관된 조직적합 유전자인 HLA DRB1*1501과 DQB1*0602 유전자를 환아모와 형제들이 공유한 것을 발견하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제51권11호
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• pp.1241-1244
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• 2008

7번과 8번 염색체의 전위에 의한 염색체 이상 증후군은 드물게 보고되고 있어 그 임상적 특징에 대한 정보가 적다. 저자들은 비슷한 특이한 외형과 다발성 기형을 보인 오누이에서 동일하게 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군을 관찰하여 그 임상적 특징과 추적 관찰한 경과를 보고하는 바이다.

• 아동학회지
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• 제1권
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• pp.28-39
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• 1980

I. OBJECTIVES The aim of this study lies in examining following items: 1. Difference in creativity between boys and girls 2. Inter correlation of the sub-variables of creativity 3. Correlation between parent-child relationship and creativity 4. The relationship between creativity and number of siblings 5. Creativity and birth-order II. METHODS & PROCED URES 1. Instruments: Standardized Creativity Test and Parent-Child Relationship Test for children 2. Objects: 118 boys and 97 girls enrolled in primary schools in Seoul who were selected by random sampling 3. Procedure: (1) The data of the boy group and the girl group were analized by means of M,t, SD. (2)The relationships between creativity and the number of siblings as well as the relationship between creativity and birth order were analyzed by M. (3) Inter-correlations among the sub-factors of creativity were obtained in boys and girls. (4) Complex-correlations between creativity and parent child relationship were produced. III. RESULTS 1. There were no significant differences between boy and girl in creativity. 2. Inter correlation among the sub-factors of creativity Boy: The highest scores were obtained in fluidity, and adaptability, the lowest in originality and openness. Girl: The highest score were obtained in world scribbling and fluidity, the comparatively low were in originality and a match-problem. 3. Inter-correlation between creativity and parent-child relationship a. Father-son: The positive refusal type has the most significant relation and conflict type, discrepancy type, negative type in turn have significant inter-coorelations. b. Mother-son: Discrepancy type, conflict type, positive refusal type have high correlations, while negative refusal type, anticipation type, and anxiety show significance in 5% level. c. Father-daughter: Positive refusal type shows correlation of 5% level significance, while indulgence type shows negative correlation in 1% level significance. d. Mother-daughter: Discrepancy type shows 5% level significance, while indulgence type shows negative correlation in 1% level. 4. Concerning the number of siblings, it was found that, boys and girls alike, those grown among 3 or 5 showed most creativity. 5. Concerning the birth order, it was found that, boys and girls alike, the first child showed the most creativity, and the youngest showed the next to the most, while the middle showed the least creativity.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• 대한통합의학회지
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• 제9권3호
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• pp.1-8
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• 2021

Purpose : There is a lack of research on this field in the Republic of Korea, especially those that have seen the effect of interaction between siblings through sensory integration therapy (SIT). Therefore, this study sought to find out the effectiveness of SIT with siblings through the Revised Knox Preschool Play Scale (RKPPS) and playtime. Methods : The experimental group consisted of 10 disabled children, and 10 normal siblings of the disabilities joined the program as a helper. In addition, 10 children with disabilities conducted the intervention as a control group. The difference between the experimental group and the control group is whether they participate with their sibling or not during the intervention period. The present study was conducted a SIT for 40 minutes per week for the experimental and the control group and then had 10 minutes of an interview with the parents of children with disabilities. A total of 10 programs were implemented for 10 weeks. Results : The experimental group showed statistically significant differences in space management, material management, pretense/symbolic, participation, and total scores. The control group showed significant differences between pre and post results in the participation and the total scores. The experimental group and the control group showed significant differences in the pre-post comparison results. The comparison of post-intervention between both groups of the RKPPS and playtime results showed a statistically significant increase in the experimental group. Conclusion : The sibling SIT showed better play level and time than the individual therapy. However, comparisons before and after the intervention in the level of play showed significant results only in participation and total scores in the control group. Clinically, it is recommended to make good use of sibling relationships when applying SIT, and if that is not possible, continuous observation is needed that children who received treatment become familiar with the environment in which they can be treated.