• Journal of Genetic Medicine
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• v.4 no.2
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• pp.186-189
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• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.143-147
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• 2005

Purpose : The aim of the this study was to evaluate the effect of various perinatal conditions on TSH and thyroid hormone levels in cord blood. Methods : Cord blood samples were collected from 130 neonates immediately after birth. TSH, $T_3$, and free $T_4$ levels were measured by the radioimmunoassay(RIA) method. The effects of gestational age, sex, birth weight, delivery method, perinatal asphyxia, maternal diabetes mellitus(DM), and preeclampsia on TSH and thyroid hormone levels were assessed by ANOVA test, Student t-test, and multiple regression analysis. Results : Birth weight and sex did not affect TSH and thyroid hormone levels. TSH level increased according to gestational age(P<0.05). TSH level was $4.42{\pm}0.66{\mu}IU/mL$ in infants born vaginally, which was higher than that of cesarian section delivery($3.31{\pm}0.33{\mu}IU/mL$)(P<0.05). TSH level was $5.18{\pm}0.93{\mu}IU/mL$ in asphyxiated newborns and $2.97{\pm}0.84{\mu}IU/mL$ in non-asphyxiated newborns(P<0.05). TSH level in infants with maternal DM($8.911{\pm}1.25{\mu}IU/mL$) was higher than that of infants without maternal DM($4.32{\pm}0.42{\mu}IU/mL$)(P<0.05). TSH level was $5.28{\pm}0.42{\mu}IU/mL$ in infants with maternal preeclampsia and $3.65{\pm}0.46{\mu}IU/mL$ in infants without maternal preeclampsia(P<0.05). Thyroid hormones were lower in infants with perinatal asphyxia(P<0.05). In asphyxiated infants, $T_3$ level was $75.33{\pm}55.65ng/mL$ and free $T_4$ was $0.54{\pm}0.21ng/mL$. $T_3$ and free $T_4$ level was $109.85{\pm}41.77ng/mL$ and $0.76{\pm}0.22ng/mL$ each in infants without perinatal asphyxia. Among the perinatal factors, gestational age, 1 min Apgar score and maternal DM influenced TSH level independently. Conclusion : In our study, cord blood TSH and thyroid hormone levels were affected by perinatal stress events.

• Food Science and Preservation
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• v.24 no.8
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• pp.1103-1112
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• 2017

This study was performed to investigate the effects of different cooking methods (boiling, roasting, stir-frying, and deep-frying) on folate retention in 6 kinds of mushrooms (Beech-, button-, Juda's ear-, oak-, oyster-, and winter-mushrooms) frequently consumed in Korea. In order to assure reliability of analytical data, trienzyme extraction-L casei method was verified and analytical quality control was also evaluated. Folate contents of mushrooms varied by 6.04-64.82 g/100 g depending on the type of mushrooms. and were significantly affected by cooking methods. Depending on cooking methods, folate contents of mushrooms decreased by 22-48%, 2-31%, and 17-56% for Juda's ear-, oak- and oyster-mushrooms, respectively, while 17-90% of folate was increased in Beech mushroom. Overall, the largest weight loss was found in boiled mushrooms, but the lowest one in deep-fried samples. True folate retention rates considering processing factor were less than 100% for all cooked mushrooms except for Beech samples. Overall, folate loss was the largest by boiling with water but the smallest by deep-frying. Both accuracy and precision of trienzyme extraction-L-casei method were excellent based on a recovery close to 100% and coefficient variations less than 3%. Quality control chart of folate analysis (n=26) obtained during the entire study and an international proficiency test (z-score=-0.5) showed that trienzyme extraction-L casei method is reliable enough for production of national folate database.

• Childhood Kidney Diseases
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• v.10 no.1
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• pp.33-39
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• 2006

Purpose : Neonatal hydronephrosis is diagnosed with an incidence of 4.5-7% of pregnancies. Recently, early detection of neonatal hydroneprosis with antenatal ultrasonography has be-come possible. But consensus about its management has not been reached, especially concerning surgical intervention. The purpose of this study is to analyze the natural course of neonatal hydronephrosis and to determine the guideline of surgical intervention and follow up study. Methods : Sixty nine hydronephrotic kidneys were confirmed from April 2001 to April 2005. All cases were rechecked by ultrasonography once at least and had a minimum follow-up of 6 months. We classified the patients into 4 groups according to the anterior posterior pelvic diameter(APPD) on perinatal ultrasonography. Ultrasonography to measure the APPD diameter and Society for Fetal Urology(SFU) grade, $^{99m}Tc-MAG3$ scan were done to a set protocol. Pyeloplasty was peformed according to the protocol. Results : Pyeloplasty was not needed in most cases where the APPD was below 10 mm and where the SFU grade were less than grade 3. Many cases with APPD 10 mm above or SFU grade III above had undergone pyeloplasty. We found a correlation between obstruction grade on MAG3 scan and whether surgery was performed or not. Conclusion : If APPD is above 10 mm, SFU grade is above grade 3 or urinary tract obstruction is suspected by MAG3 scan, pyeloplasty must be considered. In cases where APPD is below 10mm and SFU grade is less than grade 3, we can observe the natural course of neonatal hydronephrosis with consecutive follow-up. (J Korean Soc Pediatr Nephrol 2006;10:33-39)

• Clinical and Experimental Reproductive Medicine
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• v.37 no.2
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• pp.115-124
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• 2010

Objective: To testify whether the increased peripheral blood natural killer (pbNK) cells fraction and their cytolytic activity could coincide with patient's history of recurrent spontaneous abortion (RSA) and to evaluate these factors are can be valuable diagnostic markers in RSA. Methods: Women with a history of RSA comprised the patient group (n=35). Normal fertile women, who were experienced at least one healthy term birth without history of infertility or recurrent miscarriage, were included as the healthy control group (n=15). The pbNK cells of $CD3^-/CD56^+/CD16^+$ and their cytolytic activities against K562 cells were measured by flow cytometry and the values were compared between study and control groups. Results: Proportions of pbNK cells among peripheral blood monocytes (PBMC) ($14.2{\pm}5.2$ vs. $9.4{\pm}3.7%$, p=0.002, 95% confidence interval [CI], 1.8 to 7.8) was significantly higher in the patient group. The odds ratio of having RSA history was increased as 8.4 folds (59% of sensitivity, 80% of specificity, and 95% CI: 2.0 to 35.8) in patients who showed pbNK cells fraction above 12.1% which was determined as cut-off value by using ROC curve analysis. The cytolytic activities of pbNK cells which measured by three different ratio of effecter pbNK cells to target K562 cells and calculated by the percent of cytolytic K562 cells, were significantly higher in study group than that of control group (in 50:1 ratio, $48.3{\pm}19.0$ vs. $31.3{\pm}11.9%$, p=0.002; in 25:1 ratio, $37.0{\pm}18.1$ vs. $20.2{\pm}9.2%$, p<0.001; in 12.5:1 ratio, $23.5{\pm}12.7$ vs. $12.4{\pm}7.3%$, p=0.001). With the cut-off values of cytolytic activity of pbNK cells as 43.1% (50:1), 26.9% (25:1), and 17.4% (12.5:1) each, the risk of having RSA history was increased by 10.0, 11.4, and 15.0 folds in patients who had increased in each effector of pbNK to target of K562 cells ratio. Conclusion: The analysis of pbNK cells fraction and their cytolytic activity can be valuable diagnostic markers for RSA. We are going to planning the large scaled studies which include the data of obstetric outcomes in subsequent pregnancies to clarify our results of this study.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.2
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• pp.237-246
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• 1998

Objectives and Methods：This study investigated clinical characteristics, treatment modality, outcome of 57 children and adolescent inpatients(male 53, female 4) who were diagnosed as pervasive developmental disorder(PDD) by DSM-Ⅳ criteria recent five years. Results：1) The mean age at admission was $96{\pm}28.2$ months, and the mean age at which they first visited treatment facility was $52{\pm}26.6$ months. The mean hospitalization period was $43.7{\pm}31.3$ days. 2) Diagnosis：Twenty-seven(47.4%) of subjects met DSM-Ⅳ criteria for PDD NOS. Fifteen (26.3%) met for autistic disorder, nine(15.8%) met for Asperger's syndrome, and two(3.5%) met for childhood disintegrative disorder. 3) Comorbid diagnosis：The most common comorbid dignosis was attention deficit hyperactivity disorder(23.8%). 4) IQ test：IQ test for twenty-eight subjects was possible. The Average of the subjects was $70{\pm}27.5$. Fifteen(53.6%) of the subjects were approximate or under 70. 5) Neurology Abnormality：EEG findings of eleven(21.2%) subjects were abnormal, brain CT or MRI findings of eight subjects(21.6%) were abnormal. 6) Family Hx：Depressive disorder were found in Eight mothers(14%). Familial loading was found in twenty families(35.1%), and familial loading of PDD was found in three(5.3%). Conclusion：The most important thing for the management of PDD is early detection and early treatment. To do so, multidisciplinary team approach should be emphasized.

• Clinical and Experimental Reproductive Medicine
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• v.30 no.1
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• pp.39-45
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• 2003

Objective : To identify the factors affecting the complete fetal loss following multifetal pregnancy reduction (MFPR). Design: Retrospective clinical study. Methods : A total of 256 consecutive treatments of MFPR in IVF-ET cycles performed between 1992 through 2000 in Samsung Cheil hospital were analyzed. MFPR was done around 8 weeks of gestation by transvaginal ultrasono-guided aspiration in multiple pregnancies and reduced to singleton or twins. Stepwise logistic regression was performed to identify the factors affecting the final outcome of pregnancy after MFPR. Dependent variable was complete fetal loss and the independent variables were maternal age, paternal age, initial number of gestational sac (iGSNO), initial number of fetal heart beat, the number of remaining live fetus after MFPR, and chorionicity. Results: The total survival rate was 87.9%, and total fetal loss rate after MFPR was 12.1%. Total fetal loss occurred within four weeks from MFPR procedure was 1.95%. Total loss occurred after four weeks of procedure and before 24 gestational weeks was 8.2%. Seventy nine percent (202/256) of pregnancies delivered after 34 weeks of gestation. The survival rate of pregnancies reduced to singleton was significantly higher than that of pregnancies reduced to twins (93.5% vs. 86.7%, p<0.05). The mean ($\pm$SEM) gestational age at delivery was $36.2{\pm}1.0$ and $34.1{\pm}0.5$ weeks for pregnancies reduced to singletons and twins, respectively (p=0.065). Logistic regression analysis revealed that the maternal age, the number of initial gestational sac (iGSNO), and the number of remaining live fetus after MFPR significantly affected the rate of total fetal loss (Z = 0.174'age + 0.596'iGSNO + 1.324'remaining fetuses -12.07), (p<0.05). Conclusions: MFPR seems to be a relatively safe and efficient method to improve the obstetric outcome in high order multiple pregnancy. Because the maternal age, the number of initial gestational sac and the remaining live fetuses after MFPR affect the total fetal loss rate, restriction of the number of transferred embryos according to the age and MFPR to singleton fetus could be considered for the better obstetric outcome in IVF pregnancy.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.1
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• pp.29-39
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• 2004

Objectives: This study was performed to evaluate the laboratory system for successful PGD using fluorescence in situ hybridization (FISH) and the clinical outcome of PGD cycles in five years experiences. Methods: A total of 181 PGD-FISH cycles of 106 couples were performed, and diagnosed chromosome normality in the preimplantation embryos. The laboratory and clinical data were classified by the following optimization steps, and statistically analyzed. Phase I: Blastomere biopsy with two kinds of pipettes, removal of cytoplasmic proteins without treatment of pepsin and culture of biopsied embryos with single medium; Phase II: Blatomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with single medium; Phase III: Blastomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with sequential media. Results: A total of 3, 209 oocytes were collected, and 83.8% (2, 212/2, 640) of fertilization rate was obtained by ICSI procedure. The successful blastomere biopsies were accomplished in 98.6% (2, 043/2, 071) of embryos, and the successful diagnosis rate of FISH was 94.7% (1, 935/ 2, 043) of blastomeres from overall data. Embryo transfers with normal embryos were conducted in 93.9% (170/181) of started cycles. There was no difference in the successful rate of biopsy and diagnosis among Phase I, II and III. However, the pregnancy rate per embryo transfer of Phase III (38.8%, 26/67) was significantly (p<0.05) higher than those of Phase I (13.9%, 5/36) and Phase II (14.9%, 10/67). Conclusions: The laboratory optimization and experience for the PGD with FISH procedure can increase the pregnancy rate to 38.8% in the human IVF-ET program. Our facility of PGD with FISH provides the great possibility to get a normal pregnancy for the concerned couples by chromosomal aberrations.

• Radiation Oncology Journal
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• v.10 no.1
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• pp.59-67
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• 1992

From March 1979 through December 1986, 124 patients with early stage carcinoma of the uterine cervix received curative radiation therapy. According to FIGO classification, 35 patients were stage IB and 89 were stge II A. In stage IB, five year locoregional control, five year disease free survival, and five year overall survival was $79.0\%$, $76.4\%$ and $81.8\%$, respectively. In stage II A, five year locoregional control, five year disease free survival, and five year overall survival were $78.0\%$, $66.8\%$, and $72.1\%$, respectively. To identify prognostic factors, pretreatment parameters including age, ECOG performance status, number of pregnancies, history of diabetes mellitus and hypertension, histology, size and shape of primary tumor, CT findings and blood parameters were retrospectively analyzed in terms of locoregional control, disease free survival and overall survival using univariate analysis and multivariate analysis. In univariate analysis, tumor size on physicai examination and rectal invasion on CT significantly affected locoregional control, disease free survival and overall survival. Parametrial involvement on CT was a significant prognostic factor on locoregional control and disease free survival. Hemoglobin level affected disease free survival and overall survival. Histology and age were significant prognostic factors on locoregional control. In multivariate analysis excluding CT finding, tumor size on physical examination was a significant factor in terms of locoregioal control and overall survival. Hemoglobin level was significant in terms of disease free survival. In multivariate analysis including CT, histology was a prognostic factor on locoregional control and disease free survival. Hemoglobin level and rectal invasion on CT were significant factors on locoregional control.

• Radiation Oncology Journal
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• v.24 no.2
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• pp.123-127
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• 2006

Purpose: The purpose of this study was to investigate the clinical findings, treatment, and outcome of patients with glassy cell carcinoma of cervix. Materials and Methods: We reviewed all cases of glassy cell carcinoma of the uterine cervix confirmed and treated at the Dongsan Medical Center, Keimyung University, between January 1993 and December 2005. There were 7 cases with histopathologically confirmed gassy cell carcinoma. A tumor was diagnosed as glassy cell carcinoma if over 50% of the tumor cell type displayed glassy cell features. Six patients with stage IB had radical hysterectomy and bilateral pelvic node dissection, and 2 of them received adjuvant external pelvic irradiation with concurrent chemotherapy. Remaining one patient with stage IIA had curative concurrent chemoradiotherapy with external pelvic irradiation and brachytherapy. Results: There were 7 patients diagnosed as glassy cell carcinoma among the 3,745 (0.2%) patients of carcinoma of uterine cervix. The mean age of 7 patients was 44 years with range of 35 to 53 years of age. The most frequent symptom was vaginal bleeding (86%). By the punch biopsy undertaken before treatment of 7 cases, 2 only cases could diagnose as glassy cell carcinoma of uterine cervix, but remaining of them confirmed by surgical pathological examination. The mean follow up duration was 73 months with range of 13 to 150 months. All 7 patients were alive without disease after treatment. Conclusion: Glassy cell carcinoma of the uterine cervix is a distinct clinicopathologic entity that demonstrates an aggressive biologic behavior. However for early-stage disease, we may have more favorable clinical outcome with radical surgery followed by chemoradiothery.