• Title/Summary/Keyword: Siblings

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Cohen-Gibson syndrome in a family: The first familial case report

  • Kang, Yeo Jin;Kim, Young Ok
    • Journal of Genetic Medicine
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    • v.18 no.1
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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.

Reliability of Covariates in Baseline Survey of a Cohort Study: Epidemiological Investigation on Cancer Risk Among Residents Who Reside Near the Nuclear Power Plants in Korea (코호트 기반 조사 공변수 자료의 신뢰도 평가 연구: 원전주변지역주민 역학조사연구)

  • Bae, Sang-Hyuk;Park, Bo-Young;Li, Zhong-Min;Ahn, Yoon-Ok
    • Journal of Preventive Medicine and Public Health
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    • v.43 no.2
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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.

The Research of Ethical Consciousness for Physical Therapy Student

  • Kim, Myung-Chul;Kim, Dong-Hyeon;Ahn, Chung-Joa
    • Journal of the Korean Society of Physical Medicine
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    • v.11 no.3
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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.

A Study on Quality of Life according to Social Support of Elderly in the Rural Area (일 지역 농촌 노인의 사회적 지지에 따른 삶의 질에 관한 연구)

  • Choi, Yeon-Hee
    • Korean Journal of Adult Nursing
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    • v.17 no.1
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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.

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Familial systemic lupus erythematosus in two Korean male siblings (형제에서 발병한 가족성 전신 홍반 루푸스)

  • Kang, Hyun Sik;Oh, Hyun Ju;Kim, Young Ree;Kim, Jae-Wang;Shin, Kyung-Sue
    • Clinical and Experimental Pediatrics
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    • v.52 no.5
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    • pp.611-614
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    • 2009
  • Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease characterized by the production of a wide range of autoantibodies, resulting in tissue damage. Although the susceptibility to SLE has been attributed to complex interactions between genetic and environmental factors, the influence of a genetic predisposition to SLE is supported by observations of familial aggregations. Family studies have found that siblings with an SLE-affected relative have a 20-fold higher risk of developing SLE compared with the general population. Here, we present a rare case of two male siblings with SLE. The clinical, laboratory, and histopathological findings of these individuals showed the characteristic features of SLE. Human leukocyte antigen (HLA) typing revealed that the brothers and their mother shared the common HLA haplotype of DRB1*1501 and DQB1*0602, which is significantly associated with disease susceptibility in both family-based and casecontrol studies. This report provides an opportunity to reveal the role of genetic factors in the development of SLE.

The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings (오누이에서 발생한 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군의 임상 증상)

  • Kim, Young Ok;Cho, Young Kuk;Song, En Song;Han, Dong Kyun;Choi, Ic Sun;Baek, Hee Jo;Kim, Chan Jong;Woo, Young Jong;Choi, Young Youn
    • Clinical and Experimental Pediatrics
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    • v.51 no.11
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    • pp.1241-1244
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    • 2008
  • We report on 2 siblings with a partial trisomy of 7q ($7q22{\rightarrow}qter$) and concomitant partial monosomy of 8p ($8p23.3{\rightarrow}pter$), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

The Study of Correlation between Parent-Child Relationship, Birth Order, and Creavity (부모(父母)-자녀관계(子女關係) 및 출생순위(出生順位)와 창의성간(創意性間)의 상관관계(相關關係) 연구(硏究))

  • Kim, Young-Nam
    • Korean Journal of Child Studies
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    • v.1
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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.

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Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

  • Kim, Ae Ryoung;Lee, Jong-Mok;Seo, Go Hun;Lee, Sang In;Bae, Hyunwoo;Lee, Yun Jeong
    • Journal of Genetic Medicine
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    • v.18 no.2
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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.

Effects of Sensory Integration Therapy with Sibling on Play Level and Time for Children with Disabilities

  • Chang, Ki-Yeon;Kim, Ki-Jong
    • Journal of The Korean Society of Integrative Medicine
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    • v.9 no.3
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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.