Journal of Korean medical science
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J. Korean Med. Sci. · Dec 2011
Case ReportsHutchinson-Gilford progeria syndrome with G608G LMNA mutation.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. ⋯ He is on low dose aspirin to prevent thromboembolic episodes and on regular follow up. Gene study showed typical G608G (GGC- > GGT) point mutation at exon 11 in LMNA gene. This is a rare case of Hutchinson-Gilford progeria syndrome confirmed by genetic analysis in Korea.
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J. Korean Med. Sci. · Dec 2011
Korean-specific parameter models for calculating the risk of Down syndrome in the second trimester of pregnancy.
The purpose of the current study was to propose a Korean-specific parameter set for calculating the risk of Down syndrome in the second trimester of pregnancy and to determine the screening performances of triple and quadruple tests in Korean women. Using the data on triple or quadruple screening from three hospitals in Korea during 7 yr, we re-converted the concentrations of four serum markers to multiple of median values according to gestational age and maternal weight. After re-calculating the risk of Down syndrome in each pregnancy by multiplying maternal age-specific risk by the likelihood ratio values for the serum markers, screening performances and optimal cut-off values of triple and quadruple tests were analyzed. ⋯ The optimal cut-off value for the quadruple and triple tests was 1:250. We have presented a Korean-specific parameter set for Down syndrome screening. The proposed screening test using this parameter set may improve the performance of Down syndrome screening for Korean women.
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This study was conducted to estimate the socioeconomic costs of overweight and obesity in a sample of Korean adults aged 20 yr and older in 2005. The socioeconomic costs of overweight and obesity include direct costs (inpatient care, outpatient care and medication) and indirect costs (loss of productivity due to premature deaths and inpatient care, time costs, traffic costs and nursing fees). Hypertension, diabetes mellitus, dyslipidemia, ischemic heart disease, stroke, colon cancer and osteoarthritis were selected as obesity-related diseases. ⋯ These total costs represented about 0.22% of the gross domestic product (GDP) and 3.7% of the national health care expenditures in 2005. We found the socioeconomic costs of overweight and obesity in Korean adults aged 20 yr and older are substantial. In order to control the socioeconomic burden attributable to overweight and obesity, effective national strategies for prevention and management of obesity should be established and implemented.
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J. Korean Med. Sci. · Dec 2011
Characteristics of body fat, body fat percentage and other body composition for Koreans from KNHANES IV.
Accurate measurement of fat mass has become increasingly important with the increasing incidence of obesity. We assessed fat and muscle mass of Koreans with the Korea National Health and Nutrition Examination Survey IV (KNHANES IV). We studied 10,456 subjects (aged 20 to 85 yr; 4,476 men, 5,980 women). ⋯ In women, this ratio increased with age (P < 0.001). When we defined obesity according to the FMI classification, the rates of obesity were 6.1% (FMI > 9 kg/m(2)) in men and 2.7% (FMI > 13 kg/m(2)) in women. It is concluded that the muscle mass decreases and obesity increases with aging in Korean men, whereas both fat mass and obesity increase with aging in Korean women.