• Journal of Korean Neurosurgical Society
• /
• 제53권1호
• /
• pp.1-5
• /
• 2013

Objective : The purpose of this study was to evaluate the characteristics and surgical outcomes of familial hemifacial spasm (HFS) and to discuss the role of genetic susceptibility. Methods : Between 2001 and 2011, 20 familial HFS patients with ten different pedigrees visited our hospital. The data from comprehensive evaluation of these patients, including clinical, radiological and electrophysiological data and surgical outcomes were reviewed to characterize familial HFS and to compare the characteristics between familial HFS and sporadic HFS. Results : According to the family tree, the inheritance pattern was difficult to define clearly using these data. Radiologic findings suggested that the vertebral artery (VA) was a more frequent offender in familial HFS than in sporadic cases (35.0% vs. 10.0%, p<0.001). Chi-square test showed that there were no correlation between VA tortuosity and underlying morbidity such as diabetes or hypertension (p=0.391). Eighteen out of 19 patients who underwent microvascular decompression showed no residual spasm. Other features of familial HFS overlap with sporadic cases. These findings suggest that certain genetic susceptibilities rather than hypertension or diabetes may influence vascular tortuosity and HFS development. Conclusion : In this study, familial HFS seems not so different from sporadic cases. Authors thought familial HFS could have heterogeneous etiology. Further study of familial HFS including clinical, anatomic, genetic, and molecular information may help identify a gene or trait that can provide insight into the mechanisms of sporadic and familial HFS.

• Journal of Korean Neurosurgical Society
• /
• 제46권6호
• /
• pp.558-563
• /
• 2009

Objective : Moyamoya disease (MMD) is an uncommon cerebrovascular disorder, characterized by progressive occlusion at the terminal portion of the internal carotid artery. Incidence of the disease is high in East Asia and familial MMD accounts for about 15% of the disease. Although the pathogenesis is unknown, association of HLA class I or II alleles with MMD has been reported with conflicting results. We investigated whether there is a difference in HLA class II association between familial and non-familial forms of the disease. Methods : A total of 70 Korean children with MMD, including 16 familial cases (10 probands), and 207 healthy controls were studied. Among familial cases, only 10 probands were used for the HLA frequency analysis. High resolution HLA-DRB1 and DQB1 genotyping was performed using polymerase chain reaction (PCR)-sequence specific oligonucleotide hybridization and PCR-single strand conformation polymorphism methods. Results : The phenotype frequencies of HLA-DRB1*1302 (70.0%) and DQB1*0609 (40.0%) were significantly increased in familial MMD compared to both controls [vs. 15.5%, corrected p ($p_c$) = 0.008, odds ratio (OR) = 12.76; vs. 4.3%, $p_c\;=\;0.02$, OR = 14.67] and non-familial MMD patients (vs. 14.8%, $p_c\;=\;0.02$, OR = 13.42; vs. 1.9%, $p_c\;=\;0.02$, OR = 35.33). The frequencies of DRB1 and DQB1 alleles in non-familial MMD patients were not significantly different from those in controls. Conclusion : Our findings suggest that the genetic polymorphism of HLA class II genes or other closely linked disease relevant gene(s) could be a genetic predisposing factor for familial MMD.

• International Journal of Human Ecology
• /
• 제6권1호
• /
• pp.103-115
• /
• 2005

This study utilized data (a sample of 18,553 people born in 1958 in England, Scotland, and Wales) from the National Child Development Study of 1968 and 1991 to explore the influence of familial difficulties on the internalizing behavioral patterns during the early adolescent period and late life outcomes periods. In this paper, internalizing behavioral problems include 'depression', 'anxiety', 'hostility to adults', 'hostility to children', and 'withdrawal'. Late outcomes were analyzed in two different variables and one marital management domain: 'unemployment', 'seen doctors about emotional problems', 'divorce or separation; never lived as a couple; arguments end in violent behavior' The results indicate that young adolescents who had experienced familial difficulties also have internalizing behavioral problems giving them emotional and behavioral instability. The findings also show that familial difficulties during childhood positively contribute to late life outcomes such as unemployment, emotional problems, and marital management. This study suggests that in order to effectively respond to the needs of children and adolescents who have experienced various familial difficulties, counselors and educators must guide parents.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
• /
• 제32권6호
• /
• pp.506-513
• /
• 2006

The purpose of this study was to examine the familial tendency of the patients with mandibular prognathism in three generations and to define the relationship between the familial tendency and the skeletal class III morphology. The probands of this study were 103 orthognathic surgery patients with skeletal Class III malocclusions who had undergone (48 men, 55 women) mandibular set-back surgery. A questionnaire was given to patients who sought surgical treatment for excessive mandibular length, and all answers were confirmed in interviews. Lateral cephalograms were analyzed in cranial base parameters, mandibular positional parameters and mandibular skeletal parameters. In the examined families, 58.3% had at least one member other than the proband who had mandibular prognathism. The affected ratio of total relatives was 4.5%, and the value was higher in first-degree (13.4%) than second-degree (5.9%) and third-degree relatives (1.7%). The affected ratio was 51.9% in the offsprings who had at least one affected father or mother. The comparison of the groups according to the familial tendency showed no significant craniofacial skeletal measurments. In conclusion, skeletal class III malocclusion showed high familial tendency, suggesting a significant genetic influence in the etiology. However, the patient's familial tendency did not show the special craniofacial patterns compare to the subjects without familial tendency.

• 대한가정학회지
• /
• 제42권11호
• /
• pp.1-15
• /
• 2004

This study examined the interaction between children's peer experiences and familial support in relation to their psychosocial adjustment(self-esteem and lonelitness). Peer experiences were examined in terms of children's perceptions of peer acceptance and the reciprocity of best friendship. The subjects were 2754th or 5th graders residing in Seoul. It was found that the interaction between children's perceptions of peer acceptance and familial support, and that between the reciprocity of bort friendship and familial support were both significant predictors of children's loneliness whereas only the former was a significant predictor of children's self-esteem. The study results suggest that children's experiences from one type of interpersonal relationship should be examined in conjunction with their experiences in other types of relationships in order to better understand the psychosocial domains of child development.

• 한방재활의학과학회지
• /
• 제18권3호
• /
• pp.187-199
• /
• 2008

Objectives : The purpose of this study is to report the concept of familial scoliosis through eight cases. Methods : The family tree was constructed with eight cases which was diagnosed idiopathic scoliosis by physical examination and radiological study. Results : According to the family tree of this sibs, idiopathic scoliosis apparently behaves as an autosomal dominant inheritance. As to parents and grandparents, although they are not confirmed the appearance of idiopathic scoliosis, we know that they transmit trait to their descendants as a genotype. Conclusions : This study is shown that idiopathic scoliosis has a familial condition and provided useful information that can be used early diagnosis and treatment with screen tests based on the family tree.

• 가족자원경영과 정책
• /
• 제17권1호
• /
• pp.103-124
• /
• 2013

To improve family well-being of single-parents, the utilization of familial social resources-including formal supports, informal supports, and social capital-has become one of the most important family resource management issues. The purpose of this study was to compare the levels of familial social resources of single-parent households with those of two-parent households and to investigate the differences according to three factors, specifically poverty, family types by gender and age of parent, and householders' employment. In addition, the determinants of single-parent households' wellbeing were analyzed from two perspectives: economic wellbeing and psychological life satisfaction. Data from the 5th wave of the Korean Welfare Panel Study (KOWEPS) were used. The major findings were as follows. First, single-parent households utilized their familial social resources more actively than their counterparts, especially in terms of the formal support of child care. Second, single parent households utilized their familial social resources differently in relation to poverty, family types, and parents' employment. Third, the determinants of economic wellbeing and psychological life satisfaction were different according types of familial social resources. Based on these empirical results, policy implications for the future economic wellbeing of baby boomers were provided.

• Genomics & Informatics
• /
• 제3권4호
• /
• pp.159-165
• /
• 2005

The Korean Twin Register (n=154,783 pairs) was reported in 2002 as the first nationwide twin study in Korea and the largest study in Asia. The Twin Register has the information of disease outcomes since 1990, and basic clinical and questionnaire data from biennial health examination provided by Korea National Health Service. The author attempted to calculate some of the genetic parameters of cancers in this population. Common cancers in Korea known to have familial aggregation (colon and breast) and cancers of which familial aggregation is unclear (stomach cancer) were examined for their familial recurrence risks. There were 699 stomach cancers, 438 breast and 491 colorectal cancers cases in the twin register between 1991 and 2003. Like-sex twins showed recurrence risks (${\lambda}_{LS}$) of 5.1 (95% CI 3.7-6.9) for stomach cancers, 15.5 (95% CI1 0.9-20.2) for female breast cancers, and 28.1 (95% CI 23.5-34.4) for colon cancers. Colorectal cancers of female like-sex twins show significantly higher familial recurrence risk 40.7 (95% CI 34.6-47.4), suggesting higher genetic contribution in women than in men. The results show increased familial risks compared with previous studies from the same register and are largely compatible with other studies. The data of the Twin Register could be used for estimating population level genetic parameters, as well as base of the various studies.

• Clinical and Experimental Pediatrics
• /
• 제46권2호
• /
• pp.195-197
• /
• 2003

저자들은 비경화성 심근증을 동반한 두 자녀와 기질적 질환이 없이 발생한 동기능 장애 증후군 환자를 경험하였기에 문헌 고찰과 함께 가족성 동기능 장애 증후군 1례를 보고하는 바이다.

• Childhood Kidney Diseases
• /
• 제15권1호
• /
• pp.81-85
• /
• 2011

IgA 신병증은 전 세계적으로 가장 흔한 원발성 사구체 질환으로 성인의 경우 30% 정도가 만성신부전으로 진행하며 소아의 경우 10% 정도가 만성신부전으로 진행한다. IgA 신병증은 전신증상이 없이 현미경적 혈뇨와 간헐적인 육안적 혈뇨를 특징으로 하며 심한 경우 단백뇨를 동반한다. IgA 신병증의 원인이나 발병기전은 정확히 알려져 있지 않으며. 국외에서는 IgA 신병증이 유전되는 가계에 대한 보고와 함께 관련 유전자 연구가 활발하지만 국내에서는 이에 대한 증례가 매우 드물다. 저자들은 국내에서 가족 내유전된 IgA 신병증에 대한 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.