Apert described acrocephalosyndactyly as a clinical entity in 1906. At first he included a patient with craniofacial deformities combined with syndactyly of both the upper and lower extremities. This is a rare congenital disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. More than 200 cases have been reported in the world literature, and three cases in Korea. Authors experienced one case of the classic pattern of Apert's syndrome and treated surgically for syndsctyly.
Acrocephalosyndactylia ; Congenital Abnormalities ; Foot ; Hand ; Head ; Humans ; Korea ; Lower Extremity ; Syndactyly

Serum is free of cellular components. Because DNA is located in the nuclei or mitochondria of cells, serum could be assumed DNA free. Few previously published case reports to date have used serum for DNA typing. Here, we report on human genotyping via short tandem repeat (STR) analysis using serum as a sample, and discuss problems involved in the process.
DNA Fingerprinting* ; DNA* ; Humans ; Microsatellite Repeats* ; Mitochondria

No abstract available.
Nasal Bone*

Thrombomodulin (TM) is thrombin receptor present on the luminal surface of endothelial cells. Because the thrombin-TM complex acts as an anticoagulant, the functional variants or deficiency of TM may lead to increment of thrombotic tendency. In this study, we screened the genetic variants of the TM gene in patients with myocardial infarction (MI) and analyzed the genotype to elucidate the effects of genetic variations of TM gene on the development of the MI. We screened a promoter region and coding sequence of the TM gene using single strand conformation polymorphism-heteroduplex analysis and identified three common genetic variants: those were TM G-33A, TM Ala455Val, and TM C1922T. The genotype frequencies were investigated in the patients with MI (n=234) and control subjects (n=291) by the method of allele-specific oligomer hybridization. The frequencies of mutant genotypes (TM -33A, TM 455Val, and TM 1922T) were higher in patient group compared to the control subjects in males while there were no significant differences in females. In the multiple logistic regression analysis, TM 455Val and TM 1922T alleles were independent risk factors for MI (OR[95% CI: 1.799[1.125-2.878] p=0.014 and 5.624[1.019-31.025], p=0.048, respectively) in males. However, the genetic variations were not independent risk factors for MI in females. There were significant linkage disequilibriums among three genetic variants. These linkage disequilibriums explain the similar effects of three genetic variants on the development of MI. To investigate the effect of the TM G-33A mutation on TM promoter activity, the two TM promoter constructs (pTM-355 and pTM-125, bearing TM -33G or TM -33A) containing of firefly luciferase gene were transfected into HepG2, BAE, and CHO cells. The promoter activities were higher in the promoter constructs with TM -33G compared to the constructs with TM -33A in pTM-355. These results suggest the possibility of the positive predisposing effect of TM -33A allele on MI in males. The functional study for TM Ala455Val and TM C1922T should be followed to elucidate the genotype effects of these mutations on the development of MI. In this study, we identified three genetic variants of TM gene and showed the significant associations between genetic variants and MI in males. These results proposed that TM gene is an attractive candidate for genetic risk factor for MI in Koreans.
Alleles ; Animals ; CHO Cells ; Clinical Coding ; Cricetinae ; Endothelial Cells ; Female ; Fireflies ; Genetic Variation ; Genotype ; Humans ; Linkage Disequilibrium ; Logistic Models ; Luciferases ; Male ; Myocardial Infarction* ; Phenobarbital ; Promoter Regions, Genetic ; Receptors, Thrombin ; Risk Factors* ; Thrombomodulin

Proteinuria is common in pediatric and adolescent patients. Proteinuria is defined as urinary protein excretion at levels higher than 100-150 mg/m²/day in children. It can be indicative of normal or benign conditions as well as numerous types of severe underlying renal or systemic disease. The school urine screening program has been conducted in Korea since 1998. Since then, numerous patients with normal or benign proteinuria as well as early stage renal diseases have been referred to the hospital. Benign proteinuria includes orthostatic proteinuria and transient proteinuria. Most causes of proteinuria can be categorized into 3 types: 1) overflow, 2) tubular, and 3) glomerular. Although treatment should be directed at the underlying cause of the proteinuria, prompt evaluation, diagnosis, and long-term monitoring of these pediatric patients can prevent potential progression of the underlying disease process. This article provides an overview of proteinuria: its causes, methods of assessment, and algorithmic suggestions to differentiate benign from pathologic renal disease.
Adolescent ; Child* ; Diagnosis ; Humans ; Korea ; Mass Screening ; Proteinuria*

Proteinuria is common in pediatric and adolescent patients. Proteinuria is defined as urinary protein excretion at levels higher than 100-150 mg/m²/day in children. It can be indicative of normal or benign conditions as well as numerous types of severe underlying renal or systemic disease. The school urine screening program has been conducted in Korea since 1998. Since then, numerous patients with normal or benign proteinuria as well as early stage renal diseases have been referred to the hospital. Benign proteinuria includes orthostatic proteinuria and transient proteinuria. Most causes of proteinuria can be categorized into 3 types: 1) overflow, 2) tubular, and 3) glomerular. Although treatment should be directed at the underlying cause of the proteinuria, prompt evaluation, diagnosis, and long-term monitoring of these pediatric patients can prevent potential progression of the underlying disease process. This article provides an overview of proteinuria: its causes, methods of assessment, and algorithmic suggestions to differentiate benign from pathologic renal disease.
Adolescent ; Child* ; Diagnosis ; Humans ; Korea ; Mass Screening ; Proteinuria*

BACKGROUND: The purpose of this study was to evaluate the applicability of the Korean version of Fall Efficacy scale(FES) and Activities-specific Balance Confidence Scale(ABC) to Korean older adult through an examination of instrument`s internal consistency and validity METHOD: A sample of 90 Korean older adults who lived in a community completed a survey instrument which included Korean version of FES and ABC. Because of comparable data derived from each scale, fear of falling and quality of life, activity daily living were included. Concurrent validity, criterion validity and correlational validity were tested. Reliability was tested by internal consistency, test-retest method. RESULTS: Cronbach`s alpha was 0.9043 in FES, and 0.99623 in ABC. Test-retest correlations in all scales were higher than 7.0. Statistically significant association was found between fear of falling and both scales. Correlation coefficient between Quality of life(SF-8) and ABC was -0.142(p=0.049). Both FES and ABC are correlated significantly each other. CONCLUSION: The Korean version of FES and ABC appears to be a reliable and valid method for meas- uring fear of falling. These instruments may be useful in assessing the independent contribution of fear of falling. ABC scale may be more useful to detect loss of balance confidence in more highly functioning seniors.
Adult ; Humans ; Quality of Life ; Reproducibility of Results* ; Weights and Measures

BACKGROUND: As many as several weeks of incubation may be necessary for the recovery of mycobacteria when conventional culture media are used. Previous studies evaluating Mycobacteria Growth Indicator Tube (MGIT) as a rapid for the growth and detection of mycobacteria from clinical specimens have been reported. We compared MGIT with Ogawa media for the recovery of mycobacteria from clinical specimens. METHODS: Ninety nine clinical specimens received in the laboratory of Wonju Christian Hospital from June to September 199 were used for this study. The specimens from nonsterile body sites were digested, decontaminated, and concentrated, for culture and Ziehl-Neelsen stain, and specimen were inoculated onto MGIT tube and 3% Ogawa egg medium, and cultured for 8 weeks. RESULTS: Of the 38 specimens culture-positive for mycobacteria, 3 grew isolates in MGIT medium only, 8 grew isolates in Ogawa media only, and 27 grew isolates in both media. Mean (median, range) times to detection of mycobacteria were 13.7 (5.5, 2-48) days with MGIT and 19.6 (18, 13-37) days with Ogawa (P>0.05). The number recovered with MGIT plus Ogawa media was 24 (63.2%) within 14 days of receipt of specimen, and 31 (81.6%) within 21 days. The contamination rates were 31 % for MGIT and 1 % for Ogawa media. CONCLUSIONS: MGIT appears useful to quickly detect and identify mycobacteria from clinical specimens. However, because the number of culture-positive specimen in MGIT was not greater than those recovered with Ogawa media, MGIT should be used in combination with solid media to reduce turnaround times and increase the isolation rate.
Culture Media ; Gangwon-do ; Mycobacterium ; Ovum

BACKGROUND: As many as several weeks of incubation may be necessary for the recovery of mycobacteria when conventional culture media are used. Previous studies evaluating Mycobacteria Growth Indicator Tube (MGIT) as a rapid for the growth and detection of mycobacteria from clinical specimens have been reported. We compared MGIT with Ogawa media for the recovery of mycobacteria from clinical specimens. METHODS: Ninety nine clinical specimens received in the laboratory of Wonju Christian Hospital from June to September 199 were used for this study. The specimens from nonsterile body sites were digested, decontaminated, and concentrated, for culture and Ziehl-Neelsen stain, and specimen were inoculated onto MGIT tube and 3% Ogawa egg medium, and cultured for 8 weeks. RESULTS: Of the 38 specimens culture-positive for mycobacteria, 3 grew isolates in MGIT medium only, 8 grew isolates in Ogawa media only, and 27 grew isolates in both media. Mean (median, range) times to detection of mycobacteria were 13.7 (5.5, 2-48) days with MGIT and 19.6 (18, 13-37) days with Ogawa (P>0.05). The number recovered with MGIT plus Ogawa media was 24 (63.2%) within 14 days of receipt of specimen, and 31 (81.6%) within 21 days. The contamination rates were 31 % for MGIT and 1 % for Ogawa media. CONCLUSIONS: MGIT appears useful to quickly detect and identify mycobacteria from clinical specimens. However, because the number of culture-positive specimen in MGIT was not greater than those recovered with Ogawa media, MGIT should be used in combination with solid media to reduce turnaround times and increase the isolation rate.
Culture Media ; Gangwon-do ; Mycobacterium ; Ovum

PURPOSE: This study was to analyze the level of quality of life and sexual function of Hematopoietic Stem Cell Transplantation (HSCT) recipients. METHOD: Participants included 38 recipients of HSCT, attending hospital outpatient department. Data were collected using the quality of life scale and the sexual function scale. Data were analyzed using Descriptive statistics, t-test, ANOVA, Sheffe test, and Kruskal-Wallis test. RESULTS: The high score of quality of life was found in the participants with the 30s age (p=0.030), being employed (p=0.001), not having admission history after HSCT (p=0.012), and not having medication (p=0.017). The sexual function was significantly influenced by employment status (p=0.001) and irradiation therapy (p=0.043). There was a significant correlation between the quality of life and the sexual function (r=0.45, p=0.004). CONCLUSION: The sexual function have influence on the quality of life so that it is required to develop nursing interventions for sexual function to improve the quality of life of HSCT recipients.
Employment ; Hematopoietic Stem Cell Transplantation ; Humans ; Outpatients ; Quality of Life ; Sexuality