• Clinical and Experimental Reproductive Medicine
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• v.35 no.4
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• pp.267-274
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• 2008

Objective: To evaluate the relationship between advanced stage endometriosis and polymorphisms in $\alpha$2-Heremans Schmidt glycoprotein (AHSG) gene in Korean women. Methods: One-hundred thirty women with endometriosis stage III and IV, and 224 women without endometriosis were enrolled. In these patients, we determined AHSG gene polymorphisms by PCR and RFLP (restriction fragment length polymorphism) analysis. Results: The genotype distribution of the AHSG gene polymorphism in the endometriosis group was not different from that of the control group (AHSG 1*1/AHSG 1*2/AHSG 2*2 frequencies were 56.2%/37.7%/6.2% and 55.8%/39.3%/4.9% for the endometriosis and control groups, respectively, p=.864). Also, the frequency of AHSG 2 haplotype was not different between endometriosis patients and controls (AHSG 1 haplotype /AHSG 2 haplotype rates were 75.0%/25.0% and 75.4%/24.6% for the endometriosis and control groups, respectively, p=0.894). Conclusion: AHSG gene polymorphism was not associated with the risk of advanced stage endometriosis in the Korean population.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.439-445
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• 2006

Purpose : ${\alpha}$-Galactosylceramide (${\alpha}$-GalCer)-stimulated human $V{\alpha}24$ natural killer T (NKT) cells exert antitumor activity against some leukemia in a CD1d dependent and TCR-mediated manner, but could not kill CD1d - negative neuroblastoma (NB) cells. There are few reports about the direct antitumor effect of highly secreted cytokines by these cells on activation. In this study, using a cell-free supernatant (SPN) collected from plate bound hCD1d/${\alpha}$ GalCer tetramers-stimulated NKT cells, we examined whether they could be helpful in the immunotherapeutic treatment of NB. Methods : Cells were cultured in IMDM. The cytokines produced by NKT cells were measured with Cytometric Bead Array (CBA) analysis. Cell viability was evaluated by calcein-AM fluorescence with digital image microscopy scanning (DIMSCAN). The percentage of specific apoptosis was calculated by flow cytometric detection of apoptosis using annexin V and 7-AAD. Results : The activated NKT cells secreted high levels of IL-2, INF-${\gamma}$, TNF-${\alpha}$. The SPN was significantly cytotoxic against four out of eight tested NB cell lines, through mainly apoptosis as evidenced by annexin-V staining and inhibition with the pretreatment of pancaspase blocker. This apoptosis was significantly inhibited when anti-TNF-${\alpha}$ and anti-IFN-${\gamma}$ neutralizing mAbs were used separately and it was completely abolished when the two mAbs were combined. Conclusion : IFN-${\gamma}$ and TNF-${\alpha}$ produced by NKT cells could exert synergistically direct antitumor activity through apoptosis on some NB cell lines.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1082-1089
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• 2005

Purpose : Abdominal obesity is encountered as a risk factor for cardiovascular diseases. However, the anthropometric cut-off value to estimate the cardiovascular risk, has not been suggested. This study was designed to find the relationship between the abdominal fat and various parameters of obesity to find the cardiovascular risk factors related to abdominal obesity and to establish practical methods to measure them. Methods : Twenty seven obese Korean adolescents of moderate to severe degree and 22 healthy adolescents were enrolled. The body mass index(BMI), arm circumference and skinfold thickness were measured. Furthermore, blood lipid, sugar, insulin and four different cytokines' levels were checked and the distribution of body composition was measured by bioelectrical impedance analysis. The subcutaneous and intra-abdominal fat thickness by abdominal ultrasonography(US) and the total and intra-abdominal fat area by abdominal computerized tomography(CT) were measured in the obese group. Results : The most accurate method to measure abdominal fat in children is abdominal CT and the fat mass measured by bioelectrical impedance was strongly correlated with it(r=0.954). It was also correlated with arm circumference, fat thickness measured by abdominal US, BMI, aspartate aminotransferase(AST), alanine aminotransferase(ALT) and triglyceride level. Conclusion : Abdominal CT is the most accurate method to measure intra-abdominal fat, and it can be replaced by abdominal US for cost effectiveness. The screening methods that can be used at school or in outpatient basis include bioelectrical impedance, waist/hip ratio, and arm circumference. The cardiovascular risk factors include leptin, triglyceride and insulin level.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1037-1041
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• 2006

Purpose : The prevalence of obesity and nonalcoholic steatohepatitis(NASH) was increased in adolescents. This study was performed to observe the prevalence of elevated aminotransferase levels in adolescents and to assess the correlations between aminotransferase levels and obesity related parameters(body mass index, waist circumference, hip circumference, waist to hip ratio and insulin level). Methods : We obtained weight, height, waist circumference and hip circumference from 2,417 male and 1,219 female adolescents. Mean age was $15.7{\pm}0.7$ years old. We measured fasting insulin, aspartate aminotransferase(AST) and alanine aminotransferase(ALT). Obese and overweight were defined as body mass indices(BMI) of more than the 95th, and 85th-94th percentiles, respectively, for age and sex. Results : The number of adolescents with obesity is 324(8.9 percent). 414(11.4 percent) subjects belonged to the overweight group. The average ALT level of obese, overweight and control groups were significantly different(obese : $32.1{\pm}34.3U/L$, overweight : $19.6{\pm}13.6U/L$, control : $12.7{\pm}6.7U/L$, P<0.001). The average AST level was also different according to group(obese : $27.8{\pm}16.5U/L$, overweight : $22.8{\pm}8.6U/L$, control : $20.8{\pm}8.5U/L$, P<0.001). AST and ALT were correlated with anthropometric parameters and insulin level. After multiple regression analysis, waist circumference was the significant predictive value for AST(r=0.234, P<0.001). Waist circumference, BMI and insulin levels were significant predictive values for ALT(r=0.435, P<0.001). Conclusion : The prevalence of abnormal aminotransferase was higher in the obese and overweight groups than control group. Waist circumference was useful to predict abnormal aminotransferase levels.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1073-1078
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• 2006

Purpose : This study was performed to assess how a fetal diagnosis of congenital heart disease affects parents, as regards pregnancy management and care of infants after birth. Methods : Database search to find out abnormal fetal echocardiography performed at Seoul National University Children's Hospital from July 1988 to June 2003 revealed 370 examinations. After excluding both arrhythmias without structural cardiac disease and multiple pregnancies, 299 pregnancies remained and this data formed the basis of this analysis. We retrospectively reviewed the medical records with special attention to pregnancy outcomes and also tried to find out factors influencing parental decisions on whether to continue or terminate pregnancy. Results : In this study, the mean gestation age at diagnosis was $28{\pm}6.0weeks$. The mean age of mothers was $30{\pm}3.9$ years old. Younger gestational ages at diagnosis(P=0.000), more severe grades of fetal heart disease(P=0.002) and younger mothers(P=0.014) correlated with terminations of pregnanies. But the grades of fetal status, the grades of associated anomaly, whether in-vitro-fertilization was carried out or not and numbers of previous children were not significant. Conclusion : This study found that the earlier gestational ages at diagnosis, younger maternal age and higher grades of fetal heart disease tended to lead parent to select abortions. Fetal echocardiographies were performed too late. Moreover Koreans have a biased view that malformation is a something incurable and a tragedy not only to oneself, but also to a family. So parents select terminations of pregnancy, even in curable cases. This is very unethical.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1056-1060
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• 2006

Purpose : As hearing ability affects language and cognitive development, early detection and intervention of congenital hearing defects is very important. We analyzed the result of newborn hearing screening using automated auditory brainstem response and estimated the incidence of congenital hearing defects in newborn infants in Korea. Methods : Hearing screening tests were done on 7,218 newborn infants who were delivered at Cheil General Hospital from July 1, 2004 to June 30, 2005. The first screening test was done on the second day of life with automated auditory brainstem response(AABR) using $ALGO{\bigcirc}^{(3)}$ Newborn hearing screener($Natus^{(R)}$ Medical Incorporated, San Carlos, USA) with 35 dB sound level. The newborn infants who did not pass the initial screening test took the second screening AABR test before discharge from the nursery. Infants who did not pass these screenings at the nursery were followed up at the Department of Otorhinolaryngology, Samsung Seoul Hospital. Results : Total 7,218 infants(83.3 percent of total 8,664 live births of the Cheil General Hospital) were screened in the nursery, and 55 of them failed to pass the newborn screening. Among 55 infants who were referred, six were lost during follow-up, and 14 were confirmed as hearing impaired. Six of them(42.8 percent) do not have any risk factors for hearing impairment. We can estimate that the incidence of hearing defects is about 1.9-2.8 per 1,000 live births. Conclusion : Automated auditory brainstem response is an effective tool to screen the hearing of newborn infants. Congenital hearing loss is more frequent than metabolic diseases on which screening tests are available in the newborn period. About 40 percent of infants who have hearing defects do not have any risk factors for hearing impairment. Therefore, universal newborn hearing screening must be recommended to all neonates.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.482-488
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• 2002

Purpose : We performed this study to evaluate the diagnostic usefulness of endoscopic finding of nodular gastritis, CLO and HpKit test for H. pylori infection in children. Methods : Gastroduodenal endoscopy and mucosal biopsy were performed on 212 children who visited our hospital between Jul. 1999 and May 2000 due to abdominal pain. We performed CLO and HpKit test for H. pylori with the time interval of 15, 30 minutes, 1, 2, 3, 24, 48, 72, 96, 120 and 144 hours. Histological examination of H. pylori was made by H-E or Alcian yellow stain with biopsy specimens. Sensitivity, specificity, positive predictive and negative predictive value of nodular gastritis, CLO and HpKit test were calculated from the analysis of above data. Results : Sensitivity and specificity of 3 hour-CLO test was 68.4% and 100% respectively. Sensitivity and specificity of 3 hour-HpKit test was 65.8% and 100% respectively. No significant difference in sensitivity and specificity was found between in 3 hour-CLO and HpKit test(P>0.05). Sensitivity of CLO test increased as time lapsed, but corresponding specificity did not decrease as time lapsed(sensitivity and specificity at 144 hours : 89.5% and 94.8% respectively). However, sensitivity of HpKit test increased as time lapsed, but specificity markedly decreased. Sensitivity and specificity of the nodular gastritis was 78.9% and 93.7% respectively. Conclusion : Both CLO and HpKit test have relatively low sensitivity and specificity for the detection of H. pylori in 3 hours of testing in children. The endoscopic finding of nodular gastritis is another good standard in the diagnosis of H. pylori infection in children.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.311-319
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• 2002

Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.585-590
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• 2003

Purpose : This study is designed to determine the prevalence of cardiovascular autonomic neuropathy and its relationship to risk factors in adolescents with diabetes mellitus(DM). Methods : Ninety-two diabetic patients(80 with type 1 DM and 12 with type 2 DM), ranging from eight to 26 years of age, were studied for cardiovascular autonomic function, and the relationship to age, duration of diabetes, glycated hemoglobin(HbA1c), urinary albumin excretion, and the presence of diabetic retinopathy and abnormal nerve conduction velocities(NCV) were analysed. Autonomic function was assessed by measuring heart rate variation during valsalva manoeuvre, deep breathing and standing from a lying position(30 : 15 ratio), and postural hypotension. Results : Among patients with type 1 DM, 22.5% had early, 8.7% had definite, and 1.3% had severe autonomic dysfunction, and among patients with type 2 DM, 16.7% had early, 8.3% had definite, and 8.3% had severe autonomic dysfunction. On logistic regression analysis including both type 1 and type 2 diabetic patients, the age of the patient(OR=1.133(1.003-1.279), P<0.05) and duration of diabetes(OR=1.148(1.009-1.307), P<0.05) significantly predicted cardiovascular autonomic dysfunction while HbA1c, blood pressure, urinary albumin excretion, and presence of diabetic retinopathy and abnormal NCV did not. The valsalva ratio was borderline or abnormal in 31.5% of patients, the heart rate variation on deep breathing in 41.3%, the 30 : 15 ratio in 14.1%, and postural hypotension in 9.8% of patients. The valsalva ratio and the heart rate variation on deep breathing significantly predicted cardiovascular autonomic dysfunction, but the 30 : 15 ratio and postural hypotension did not. Conclusion : Cardiovascular autonomic dysfunction was found in 32.6% of diabetic patients and 10.8 % of patients had definite or severe involvement. The risk of cardiovascular autonomic dysfunction increased with the patient's age and the duration of DM. This study suggests that the valsalva ratio and the heart rate variation on deep breathing are the most useful tests in evaluating the cardiovascular autonomic function in children and adolescents with DM.

• Clinical and Experimental Pediatrics
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• v.46 no.4
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• pp.340-344
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• 2003

Purpose : We evaluated allele frequencies and distribution of surfactant protein A2(SP-A2) in Korean neonates in order to estimate the prevalence of RDS, to find out new SP-A alleles, and to establish new steroid therapy. Methods : Genomic DNA was extracted from 71 neonates and served as a template in PCR for genotype analysis. SP-A gene-specific amplications and gene-specific allele determinations were performed using PCR-cRFLP methods. Results : The distribution for the alleles of the SP-A2 gene in the study population was 1A, $1A^0$, $1A^1$, $1A^2$, $1A^3$, $1A^5$, $1A^6$, $1A^7$, $1A^8$, $1A^9$, $1A^{11}$, $1A^{12}$. The specific frequencies for the alleles of the SP-A2 gene in the study population were : 1A=11.3%, $1A^0=38%$, $1A^1=12.7%$, $1A^2=9.2%$, $1A^5=15.5%$, $1A^7=2.9%$, $1A^8=4.9%$, $1A^9=2.2%$, others=3.3%. Conclusion : The frequency of $1A^0$ was higher than the other SP-A2 alleles in Korean neonates. This finding suggests that the prevalence of RDS in Korea may be low compared with other countries. However, this finding also suggests that Korean neonates have a high risk of infection.