• Journal of Audiology & Otology
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• v.25 no.4
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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.

• Korean Journal of Audiology
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• v.25 no.4
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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.

• Journal of the korean academy of Pediatric Dentistry
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• v.33 no.1
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• pp.116-121
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• 2006

Familial hypophosphatemia is the most common hereditary rickets which occur hypophosphatemia as the calcium concentration in the blood serum is normal but the phosphate concentration in the blood serum decreases by dysfunction of renaltubular phosphorus reabsorption. In spite of the low concentration of phosphate in the blood serum discharge of phosphate by urine and alkaline phosphatase increases remarkably. It is a sex-linked and normally male show severe clinical symptoms than female. This kind of familial hypophosphatemia patients show frontal bossing, square head, short of status for general finding, and for dental finding, thinning of limina dura and dental follicle, thin and hypoplastic enamel, enlarged pulp chamber and canal, high occurance rate of periapical and periodontal abscess and unknown cause of rarefying osteitis. This case is to report about the clinical finging and dental treatment of a child patient, who came to the hospital for treatment of deciduous teeth caries but was refered to pediatrics because the child showed clinically short of status, bow-leg and radiographically enlarged pulp chamber and canal, there as diagnosed as familial hypophosphatemia.

• Proceedings of the Korean Statistical Society Conference
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• 2005.05a
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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.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1972.03a
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• pp.2.2-2
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• 1972

Recently author have experienced three cases of familial sensori-neural hearing loss bilaterally which were complaints of hearing gradually for 6 years.

• Communications for Statistical Applications and Methods
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• v.12 no.2
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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.

• The Korean Nurse
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• v.19 no.5 s.108
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• pp.34-38
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• 1980

• Journal of the Korean Society of School Health
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• v.21 no.2
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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.

• Health Policy and Management
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• v.13 no.1
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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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• v.13 no.10
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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.