• Journal of Genetic Medicine
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• v.7 no.1
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• pp.37-44
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• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.16 no.6
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• pp.3934-3943
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• 2015

This study was conducted to investigate the incidence rate of metabolic syndrome, and the related factors were examined. 620 persons who had participated in both initial and second survey were selected. Initial survey was performed at the year of 2006 and second survey was performed at the year of 2010. Among them, 460 persons who didn't initially have a metabolic syndrome were selected as the final study subjects. They were classified into 2 categories; stationary normal group (352, 76.5%), and metabolic syndrome incidence group (108, 23.5%). The incidence rate of metabolic syndrome for the subjects was 25.2 per 1,000 person years. Sex, obesity, and smoking had significant effect on the incidence of metabolic syndrome. In multiple logistic regression analysis,after controlling variables, obesity index was found to be major factor in the incidence of metabolic syndrome. The risk of metabolic syndrome was increased by overweight or obesity. The strategy to control body weight should be emphasized for prevention of metabolic syndrome.

• Journal of Korean Ophthalmic Optics Society
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• v.14 no.3
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• pp.103-108
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• 2009

Purpose: This study was performed to assess the effects of metabolic syndrome and its components to cataract. Methods: We investigated the relation of metabolic syndrome and its components to cataract using data for 2,120 adults, aged 60 years or older, from the Korean National Health and Nutrition Examination Survey 2005, 2007. Using multiple logistic regression analysis, we presented significant odds ratio (OR) increase of cataract according to the number of metabolic abnormalities ${\leq}$1, 2, 3, ${\geq}$4). We also analyzed OR by the prevalence of metabolic components, and analyzed the effects of metabolic medication intakes to cataract prevalence using multiple logistic regression analysis. Results: The risk of cataract development was significantly increased according to the number of metabolic abnormalities, after adjusting for age, sex, life style, and social economic status variables (p for trend < 0.0001). In metabolic components, the disturbances of blood pressure (OR(95% Confidence Interval): 1.32(1.05,1.65)) and fasting glucose (1.35(1.09,1.67)) significantly increased the prevalence of cataract after adjusting for age and sex. Among these metabolic components, the significance of fasting glucose (1.26(1.01, 1.58)) was remained after adjusting for the other variables. Medication intake of hypertensive also increased the risk of cataract (1.49(1.14,1.96)). Conclusions: Metabolic syndrome and its components increased the risk of cataract, and some medication for treating hypertension was also associated with the cataract incidence.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.22 no.1
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• pp.94-103
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• 2021

The purpose of this study was to identify the association between regular physical activity (PA) types and metabolic syndrome (MetS) in fertile women. Data were obtained from the seventh Korea National Health and Nutrition Examination Survey (KNHANES VII-3, 2018). The sample consisted of 4,172 fertile women over 19 years of age. The data were analyzed using an independent t-test, χ2 test, and multiple logistic regression analysis for examining the association of regular PA and MetS. The prevalence of MetS in fertile women was 3.1% (n =128), and 1,972 fertile women (47.2%) practiced regular PA. Compared to the non-regular PA group, regular PA resulted in a significantly lower systolic blood pressure (p =.002), lower waist circumference (p <.001), lower fasting blood sugar (p =.007), and higher high-density lipoprotein cholesterol (p <.001). After controlling the confounding variables, multiple logistic regression showed that the regular PA group (odds ratio 0.59, 95% confidence interval 0.35-0.98, p =.040) and the regular muscle-strengthen PA group (odds ratio 0.34, 95% confidence interval 0.14-0.80, p =.013) were associated with a decreased risk of MetS. Therefore, regular PA, including muscle-strengthen PA should be considered to develop effective MetS intervention in fertile women.

• Journal of Korea Entertainment Industry Association
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• v.13 no.8
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• pp.357-365
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• 2019

Purposes: This study aimed to investigate the differences in the health-related quality of life (EQ-5D) in Korean adults according to gender, age period, and the metabolic syndrome or not. Methods: The study subjects were 5,021 adults, who completed all of the KNHANES VI-2. The subjects were categorized, using life periods, into young, middle-aged, and older adults. Methods were selected based on the KNHANES VI-2. IBM SPSS 25.0 was used for a complex samples cross-tabulation, general linear model and a complex samples t-test. Results: The HRQoL (EQ-5D) was higher in male(p<.001), in the young group by age(p<.001), and in the non-metabolic syndrome group(p>.05). In condition of the metabolic syndrome by gender, the female group's EQ-5D was higher in the non-metabolic syndrome group; there was the result of the complex samples independent t-test revealed significant differences in EQ-5D(p<.01). Conclusion: The HRQoL (EQ-5D) was higher in male, young, and in the non-metabolic syndrome group. Also, in condition of metabolic syndrome in female, there was the result of the complex samples independent t-test revealed significant differences in EQ-5D.

• The Monthly Diabetes
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• s.166
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• pp.20-23
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• 2003

• Korean Journal of Clinical Laboratory Science
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• v.49 no.2
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• pp.121-127
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• 2017

High sensitive C-reactive protein (hs-CRP) has been associated with metabolic syndrome (MetS) and its risk factors. This study aimed to evaluate the association between hs-CRP and the risk factors of MetS in elderly women with abdominal obesity. The diagnosis of MetS followed the AHA/NHLBI criteria, and abdominal obesity was defined using the WHO Asian-Pacific criteria. We used the data from 174 elderly women, with an average age of 74 years. They were classified into two groups: The absent group (N=97) and the MetS group (N=77). Hs-CRP was significantly higher in the MetS group (p=0.007). Hs-CRP had a positive correlation with abdominal obesity (r=0.190, p=0.014) and fasting blood glucose (r=0.240, p=0.002), while having a negative correlation with HDL cholesterol (r=-0.164, p=0.035). Moreover, hs-CRP was higher in the group with risk of high fasting blood glucose (p=0.006) and low HDL-cholesterol (p=0.010), even in elderly women with abdominal obesity.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.18 no.7
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• pp.565-568
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• 2017

Sjogren's syndrome is an autoimmune disease characterized by dry mouth and neutropenia. Although it does not commonly involve the central nervous system, Sjogren's syndrome sometimes affects small vessels through microangiopathic alterations. A 34-year-old woman was hospitalized for left upper quadrantanopia and a tingling sensation in the left hemibody. Brain magnetic resonance imaging revealed acute infarction in the right posterior cerebral artery territory. In laboratory tests, antinuclear (FANA2+) and anti-DNA antibodies (anti-SS-A (Ro)) were detected. Salivary gland scintigraphy revealed moderately decreasedexcretion of saliva. Based on these findings, we concluded she had Sjogren's syndrome. As in this patient, large vessel involvement in Sjogren's syndrome is far less common. Furthermore, it is difficult to administer antiplatelet drugsto patients with thrombocytopenia in Sjogren's syndrome. This is a case of the patient with Sjogren's syndrome that involved thrombocytopenia and large vessel invasion who was treated with antiplatelet drugs and hydroxychloroquine.

• Journal of Chest Surgery
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• v.34 no.7
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• pp.552-555
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• 2001

Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line, skeletal malformation and congenital cardiovascular defect. Two third of Noonan syndrome have cardiac anormalies, half with pulmonary stenosis. We have experienced two cases of pulmonary stenosis associated with other cardiac anomalies in Noonan syndrome. The first 31-year-old male patient had characteristic appearance of Noonan syndrome with severe infundibular pulmonic stenosis and patent foramen ovate. The second 28-year-old male patient had valvular and subvalvular Pulmonary stenosis with typical Noonan\`s face and stature. Pulmonary valvotomy and hypertrophied muscle bundles in the right ventricular cavity were resected in both cases. Patent foramen ovate was closed directly in the first case. Postoperative follow-up examinations revealed no symptoms and successful outcome.

• The Journal of the Korean bone and joint tumor society
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• v.8 no.3
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• pp.69-75
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• 2002

Werner's syndrome is a rare autosomal recessive disorder manifesting as premature aging. It is also known to be characterized by a high frequency of malignant tumors, especially sarcomas. However, Werner's syndrome may be not only a premature aging disease but also a cancer syndrome, because the malignant tumors in these patients are different from those of normal population with respect to involved site, histological type, and age of onset. Recent studies found Werner's syndrome was caused by a mutation of Werner helicase suggesting that WRN helicase may participate in metabolism and repair of DNA. And a dysfunction of WRN helicase may induce the genomic instability causing somatic mutations. Further studies of Werner's syndrome associated with sarcoma might give much informations about the normal aging process and the pathogenesis of sarcomas.