• Journal of Audiology & Otology
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• 제25권4호
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• 대한청각학회지
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• 제25권4호
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• 대한소아치과학회지
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• 제33권1호
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• pp.116-121
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• 2006

가족성 저인산혈증(famiial hypophosphatemia)은 근위 세뇨관의 인산 재흡수 기전의 결핍으로 혈청 칼슘 농도는 정상이나 혈청 인산 농도가 낮아져 저인산혈증을 나타내는 가장 흔한 유전성 구루병이다. 혈청 인산이 낮음에도 불구하고, 소변으로의 인산 배출이 증가되어 있고 혈청 알칼리성 인산 분해 효소의 상승이 현저하다. 주로 반성 우성 유전이며 보통 남아에서 여아보다 임상 증상이 심하다. 이러한 가족성 저인산혈증 환자의 전신적 소견으로는 앞이마의 돌출, 사각형 머리, 작은 키, 휜 다리가 나타나며, 치과적 소견으로 치조백선과 치낭의 비박, 얇은 법랑질 확장된 치수강과 근관, 치근단 농양과 치주 농양의 높은 발생률, 원인불명의 치근단 희박화 골염이 나타난다. 본 증례는 유치 충치 치료를 위해 내원한 환아가 임상적으로 작은 키와 휜 다리, 방사선적으로 많이 확장된 치수강과 근관이 관찰되어 소아과에 의뢰한 바 가족성 저인산혈증으로 진단받아 그 임상적 소견과 치과적 치료에 대해 보고하는 바이다.

• 한국통계학회:학술대회논문집
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• 한국통계학회 2005년도 춘계 학술발표회 논문집
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• pp.53-57
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• 2005

In this paper, we develp the group ordering referecne priors for the differecne of the intraclass correlation coefficient in familial data. Using marginal posterior distributions under those priors, we compare frequentist coverage probabilities.

• 대한기관식도과학회:학술대회논문집
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• 대한기관식도과학회 1972년도 춘계종합 학술대회 초록집
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• pp.2.2-2
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• 1972

최근 지각신경성난청에 대한 여러 가지 원인 규명이 밝혀져서 선천적으로 오는 신경성난청이 점차 감소되어 가고 있으나 아직도 우리나라에서는 많은 수의 신경성난청환자가 있어 국민보건 상 중요성이 강조되고 있다. 저자는 최근 3예의 가족적으로 나타나는 희귀한 신경성난청을 경험하였기에 보고하는 바이다

• Communications for Statistical Applications and Methods
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• 제12권2호
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• pp.395-411
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• 2005

In this paper, we develop the Jeffreys' prior, reference prior and the the probability matching priors for the difference of intraclass correlation coefficients in familial data. e prove the sufficient condition for propriety of posterior distributions. Using marginal posterior distributions under those noninformative priors, we compare posterior quantiles and frequentist coverage probability.

• 대한간호
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• 제19권5호통권108호
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• pp.34-38
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• 1980

• 한국학교보건학회지
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• 제21권2호
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• pp.35-46
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• 2008

Purpose: This study was a part of preliminary survey for establishing Korean HPS(Health Promoting School) model which was originally suggested by WHO. Methods: Three elementary and middle schools were sampled in urban and rural area across three level of social-economic status, and survey was conducted on one class in each grade by random selection. To measure mental health and social and familial factors, self-esteem scale, self-efficacy scale, depression scale, family cohesion scale, parent-child communication scale, adolescent's mental health and problem behavior questionnaire(AMPQ), and other question items about family status and economic level were conducted. Students' mental health level was compared by region, sex, grade, and other familial and economic factors. Results: Familial and social factors such as economical and educational level of parents, number of family members were different between rural and urban area. Also, students of rural area got lower scores at self-esteem, self-efficacy, but higher scores at extroverted problem behavior than their urban counterparts. In pre-school students, high grade students' self-esteem, and family cohesion scores were lower than low grade students. And sexual differences were found across problem behavior domain and region in middle school students. Especially, the students of single-parent family and lower economic family got insistently low scores at various mental health related scales. Conclusion: These results should be considered, when the HPS model is designed and applied in Korea.

• 보건행정학회지
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• 제13권1호
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• pp.1-22
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• 2003

The principal objective of this study was to analyze and conceptualize the socio-psychological burden in utilizing a nursing home for elderly. The subjects were five elderly from a private nursing home located in Seoul and their familial caregivers. An old male and three females were currently staying at the facility, and a female had been discharged already from there. Data were collected through depth interviews, observations and review of records at the facility For analysis, the data were classified by similar contents among significant expressions and factors in common. The subjects' motives to consider admission to the nursing home might be attributed to familial caregivers' burden, a shortage of support, environmental improvement and feeling of helplessness for the case elderly. The concept of burden is including family members' being badly off in living, their weariness, complications among family members, feeling psychological uneasiness, and hospital expenses. The identified image of nursing homes for the elderly in Korea was generally negative at the point of high cost, unreasonable requisites and limitations for admission to the facilities, inferior situations, and especially in that there were few long-term care facilities within the community boundary. From their experience of nursing homes, the interviewees have felt the sentiments of sorry for their old parents, with the thought of being an undutiful, bitterness, and empathy. Additionally, they expressed a sense of anxiety of relative deprivation against the fact that there were no long-term care facilities available for the middle class. On the basis of these, multi-dimensional needs could be identified for the elderly with chronic illnesses.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.5101-5104
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• 2012

Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.