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Controversial issues in the legal restriction for prenatal genetic testing in Korea (산전검사 대상 질환에 대한 법적 규제의 문제점에 대한 고찰)

  • Choi, Ji-Young;Jeong, Seon-Yong;Kim, Hyon-J.
    • 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.

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Systems for Production of Calves from Hanwoo(Korean Cattle) IVM/IVF/IVC Blastocyst III. Vitrification and One-Step Dilution of Hanwoo Blastocyst (체외생산된 한우 배반포기배로부터 송아지 생스을 위한 체계 III. 한우 배반포기배의 초자화 동결과 1단계 융해)

  • Kim, E.Y.;Kim, D.I.;Park, N.H.;Weon, Y.S.;Nam, H.K.;Lee, K.S.;Park, S.Y.;Yoon, S.H.;Park, S.P.;Chung, K.S.;Lim, J.H.
    • Korean Journal of Animal Reproduction
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    • v.23 no.4
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    • pp.293-301
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    • 1999
  • This study was to examine whether Hanwoo IVM/IVF/IVC blastocyst can be successfully survived in vitro/in vivo after vitrification and one-step dilution. For vitrification, blastocysts were serially exposed in glycerol (G) and ethylene glycol(EG) mixtures[10% (v Iv) G for 5 min., 10% G plus 20% EG (v/v) for 5 min., and 25% G plus 25% EG (v/v) for 30 sec.] which is diluted in 10% FBS added D-PBS. And then they were loaded in the straw, placed in cold nitrogen vapor for 3 min. and plunged into L$N_2$(-196$^{\circ}C$). One-step dilution within the straw was done in $25^{\circ}C$ and 36$^{\circ}C$ water for about 5 min. and 3 min., respectively. Recovered embryos after one-step dilution were cultured in cumulus cell mono-layered drop for 48 h or were transferred into recipient cows. When the embryo survival in vitro was assessed to re-expanded and hatched rates at 24 hand 48 h after one-step dilution, the results of vitrified group (85.4, 43.8%) was high, although these results were significantly lower than normal development (100.0, 63.3%) of control group, respectively (P<0.001, P<0.05). When in vitro survival of vitrified groups according to developmental stage was compared, the results of fast developed embryos (expanded blastocyst and early hatching blastocyst stage) were significantly higher than those of delayed developed one (early blastocyst stage) after one-step dilution (early hatching: 88.0, 48.0%: expanded: 81.1, 45.3%; early: 66.7, 14.3%) (P<0.05). Also, in case of in vitro survival of vitrified groups according to embryo age (day 7, 8 and 9), when embryo age was younger, in vitro survival was significantly higher (day 7: 67.3, 34.5%; day 8: 76.9, 40.7%; day 9: 60.9, 23.9%)(P<0.05). Finally, when in vivo development potential of vitrified and one-step diluted Hanwoo blastocysts was examined, 4 of 8 recipient (50%) cows became confirmed pregnant. These results demonstrated that our vitrification and one-step dilution technique can be applied easily and effectively on field trial without the equipment and embryological skills required for conservative dilution and transfer.

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Effects of Cooling Rate and Equilibration Time on the Survival and Development of Frozen-thawed Bovine Immature Oocytes (동결속도와 평형시간이 소 미성숙 난자의 동결 융해후 생존율에 미치는 영향)

  • 양병철;양보석;성환후;임기순;최선호;장원경;진동일;임경순
    • Korean Journal of Animal Reproduction
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    • v.25 no.1
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    • pp.19-28
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    • 2001
  • The present study was undertaken to investigate the effects of cooling rate and equilibration time on the survival, in vitro maturation and development to embryos of frozen-thawed bovine immature oocytes(Germinal Vesicle Stage). The cryoprotectants are used 10% ethylene glycol(EG) as permeating cryoprotectant and 0.05M soc.ose(S) or trehalose(T) as low molecular weight nonpermeating cryoprotectants and 5% ficoll(F) or polyvinylpyrrolidone(PVP) as high molecular weight nonpermeating cryoprotectants. Four freezing solution were uysed in this experiment(EFT: 10% EG + 5% F + 0.05M T, EFS: 10% EG + 5% F + 0.05M S, EPT: 10% EG + 5% P + 0.05M T, EPS: 10% EG + 5% P + 0.05M S). The best equilibration time and freezing solution was 15 min in EPT(83% survival rate of frozen-thawed bovine immature oocytes). When frozen-thawed bovine oocytes were cultured following IVM and IVF, there was no significant difference in cleavage and development rates among the EFT, EFS, EPT and EPS solutions. When 9 blastocysts derived from frozen bovine oocytes were transferred to 6 recipients, two recipients were pregnant. And one was aborted at 45 days of pregnancy and the other had a stillbirth.

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Micrographic Comparison of Proglottids and Ova in Some Tapeworms(Family: Diphyllobothridae) from Man (인체기생 열두조충류의 형태비교 및 진단적 소견)

  • 류장근;양용상;강성구;백승한;임신영
    • Biomedical Science Letters
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    • v.4 no.1
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    • pp.65-72
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    • 1998
  • Recently there have been frequent reports on human infection caused by the Diphyllobothridae in Korea. The adequate opportunities for Koreans to eat raw fish, the primary infection medium of cestodes and the human infection through drinking water by cyclops, the first intermediate host are believed to be main reasons for the infection. The first task of this study was to classify and diagnose the species by differentiating morphological characteristic between scolex and proglottids of cestodes. However, the initially available diagnosis was done with the patient's symptoms and the eggs obtained from his stool. It is important to differentiate the species by the eggs of Diphyllobothrium latum especially in that it can help get advance information for a more reliable analysis in the near future. The morphological and diagnostic results from proglottids and eggs of Diphyllobothrium latum, Diphyllobothrium latum parvum and Spirometra erinacei are as follows; In each kind of cestodes from the patient's stool, the shape and size of 50 eggs were measured. Eggs of Diphyllobothrium latum had an operculum and were ovoidal or ellipsoid to elliptical in shape. Eggs of Diphyllobothrium latum parvum were more ovoidal in shape and smaller in size than Diphyllobothrium latum. And eggs of Spirometra erinacei were asymmetrical in width and long and slender in shape. The average lengths and widths of Diphyllobothrium latum, Diphyllobothrium latum parvum and Spirometra erinacei were 61.4$\times$41.7 $\mu\textrm{m}$, 55.9$\times$41.4 $\mu\textrm{m}$ and 66.7$\times$36.4 $\mu\textrm{m}$, respectively. After the segments of each cestode were fixed, embedding and hematoxylin-eosin dyeing on a microtome-made specimen were done. The micrographs of the semicon's aceto-carmine dyed specimen showed that Diphyllobothrium latum and Diphyllobothrium latum parvum had a centrally-located genital gland and an opened uterine pore. The yolks were observed on both sides of proglottids and had a typical rosette pattern. Yet, Diphyllobothrium latum parvum was shown smaller than Diphyllobothrium latum in the micrograph. Proglottids of Spirometra erinacei displayed that the uterus was rolled spirally more than five to seven times, and connected successively to the seminal vesicle in the cirrus sac. Shown above, this study was performed to measure the size of eggs and analyze the morphological characteristics of proglottids and provided the measurements of three types of cestodes obtained by a light microscope.

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The Use of Pharmacogenomic Method for the Prediction of Antidepressant Responsiveness (약리 유전학적 방법을 이용한 항우울제 치료반응성의 예측)

  • Kim, Doh Kwan;Lim, Shinn-Won
    • Korean Journal of Biological Psychiatry
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    • v.9 no.1
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    • pp.25-33
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    • 2002
  • Serotonin transporter(5-HTT) is one of the major action site of antidepressants in neuronal cells. According to the recent studies, it is known that the functional polymorphism in the promoter region of the 5-HTT gene(5-HTT linked polymorphism repetitive element in promoter region, 5-HTTLPR) is associated with antidepressant responsiveness, and the distributions of 5-HTTLPR is various among the different populations. Our preliminary study suggested that it is possible to measure the endophenotype of 5-HTTLPR genotype by examining the pharmacodynamic research of the 5-HTT in platelet membranes. However, there are limitations to predicting the antidepressant responsiveness only from the endophenotypic characteristics of 5-HTT gene promoter polymorphism, and therefore we propose to use the pharmacogenomic methods for overcoming these limitations. We found that the significant correlations existed among the genetic polymorphisms of biogenic amine transporters whose structure and characteristics are similar to the 5-HTT, and the predictable odds ratio of antidepressant responsiveness are increased significantly by combining the effect with other associated polymorphisms, compared to the effect of 5-HTT promoter polymorphism only. These results support the hypothesis that antidepressant treatment has to be individualized according to the genetic and ethnic background of depressed patients. It would be possible to develope the evaluation tools to predict the antidepressant responsiveness and its side effect profile, if scientists reveal the genes related to the action mechanism as well as the metabolism of antidepressants so as to discover the interaction of those genes and contribution of endogenotypes toward antidepressant responsiveness.

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Experimental Models of Schizophrenia (정신분열병의 실험적 모델)

  • Cheon, Jin-Sook
    • Korean Journal of Biological Psychiatry
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    • v.6 no.2
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    • pp.153-160
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    • 1999
  • Animal models can provide a useful tool for the study of some aspects of psychiatric disorders and their treatment. The four criteria for the evaluation of animal models of psychiatric disorders are as following : 1) similarity of inducing conditions 2) similarity of behavioral state 3) common underlying neurobiological mechanisms 4) reversal by clinically effective treatment techniques. Several animal models have been proposed for schizophrenia : phenylethylamine model, L-dopa model, hallucinogen model, cocaine model, amphetamine model, phencyclidine model, noradrenergic reward system lesion model, reticular stimulation model, social isolation model, conditioned avoidance reaction, catalepsy test, paw test, self-stimulation paradigms, latent inhibition paradigms, blocking paradigms, prepulse inhibition of the startle reflex, rodent interaction, social behavior in monkeys, hippocampal damage, high ambient pressure, and models using selective breeding. Among them, animals with bilateral lesion of the hippocampus may provide an adequate animal model for several symptoms of schizophrenia, and ketamine model can reproduce negative symptoms and cognitive deficits as well as positive symptoms of schizophrenia. In conclusion, no model of schizophrenia is entirely representative of the disease, and findings gleaned from model systems must be cautiously interpreted. Furthermore, the process of developing and validating animal models must work in concert with the process to identify reliable measures of human phenomenology.

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Treatment and Prognosis according to Causative Organisms in Neonatal Bacterial Meningitis (신생아 세균성 뇌막염의 원인균에 따른 치료와 예후)

  • Kim, Dong Joon;Lee, Gwang Hoon;Lee, Hyung Won;Kim, Gil Hyun;Lee, Hak Soo
    • Pediatric Infection and Vaccine
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    • v.4 no.1
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    • pp.79-89
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    • 1997
  • Purpose : Neonatal bacterial meningitis is the disease which clinical manifestations are nonspecific and several neurologic complications may occur. We studied neonatal bacterial meningitis, particularly in treatment and prognosis according to causative organisms -gram positive and gram negative bacteria- to assist in treatment of neonatal bacterial meningitis. Methods : We analysed twenty-four cases retrospectively who had been admitted in NICU or pediatric ward in Chung-ang Gil hospital from Jan. 1991 to Jun. 1996, and who had proven causative organisms in culture or latex agglutination[n test in CSF. Results : 1) The ratio of male to female was 2.4: 1. The mean birth weight and gestational age in cases with gram positive bacterial meningitis were $2.91{\pm}0.79kg$ and $38.4{\pm}2.74$ weeks and those in cases with yam negative bacterial meningitis were $3.30{\pm}0.90kg$ and $37.7{\pm}3.33$weeks respectively. There was no significant difference between the two groups. 2) The perinatal predisposing factors were pematurity, mecoinium staining amnionic fluid, matemal diabetes and pregnancy-induced hypertension, etc. The clinical manifestations Were fever, seizure, poor oral intake and fontanel bulging, etc. There were eleven cases with early onset bacterial meningitis(four cases by gram positive bacteria, seven cases by gram negative bacteria), and thirteen cases with late onset bacterial meningitis(seven cases by gram positive bacteria, six cases by gram negative bacteria). There was no significant difference between the two groups in terms of onset. 3) There were eleven cases with yam positive bacterial meningitis and they were coagulase-negative staphylococci(three cases), group B streptococci(three cases), Staphylococcus aureus(two cases), Streptococcus viridans(two cases), and enterococci(one case). And there were thirteen cases with gram negative bacterial menir gitis and they were Escherichia coli(seven cases), Klevsiella pneumoniae(three cases), Pseudomonas aeruginosa(one case), Acinetobactor(one case) and Enterobacter(one case). 4) The initial CSF WBC counts in cases with yam negative bacterial meningitis were significantly higher than those in cases with gram positive bacterial meningitis but the CSF protein and glucose levels were no significant difference in the two groups statistically. 5) The number of cases with abnormal findings in brain ultrasonography was seven in gram positive bacterial meningitis and ten in gram negative bacterial meningitis. 6) There were relatively high sensitivity to penicillin derivatives, the first generation cephalosporin and vancomycin in gram positive bacteria and to the third generation cephalosporin and amikacin in gram negative bacteria. 7) The mortality rate was 20.8%(5 cases were expired or discharged hopelessly). There was no significant difference between the two groups in prognosis. Conclusions : We recommend active treatment in noenatal bacterial meningitis to improve prognosis because the prognosis is poor.

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Treatment of Early Glassy Cell Carcinoma of Uterine Cervix (초기 자궁경부 유리세포암의 치료)

  • Kim Ok-Bae;Kim Jin-Hee;Choi Tae-Jin
    • 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.

Toxicity Assessment and Establishment Acceptable Daily Intake of Penthiopyrad (펜티오피라드(Penthiopyrad)의 독성평가와 일일섭취허용량 설정)

  • Jeong, Mi-Hye;Hong, Soon-Sung;Park, Kyung-Hun;Kim, Chan-Sub;Park, Jae-Eup;Hong, Moo-Ki;Im, Moo-Hyeog;Kim, Young-Bum;Han, Bum-Seok;Han, Jeung-Sul
    • The Korean Journal of Pesticide Science
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    • v.14 no.4
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    • pp.478-489
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    • 2010
  • Penthiopyrad is a fungicide agent in types of pyrazole which is showing the effect of prevention in fungal disease and powdery mildew. In order to register this new pesticide, reports of acute toxicity and chronic toxicity by animal study were examined to set acceptable daily intake to evaluate hazards of consumers. Acute toxicity was low in toxic, and it did not have the effect of acute dermal toxicity, acute eye irritation, or skin sensitization. As the result of the study in chronic toxicity, the common effect of chemical appeared in the liver and thyroid which was proven as a toxic effect. Two-generation reproduction toxicity, genotoxicity, and prenatal development toxicity were not proven. As the result of carcinogenic study, increase of thyiroid follicular adenoma in the rat and the frequency of liver hepatocellar adenoma in mice were also increased. However, it was decided that the threshold value on the effect in chemicals could be controlled through study liver enzyme induction. Therefore, the ADI for penthiopyrad is 0.081 mg/kg/ bw/day, based on the NOAEL of 8.10 mg/kg bw/day of twelve-months dogs study and applying an uncertainty factor of 100.

우리나라의 출산력과 가정경제행태에 관한 연구

  • 노공균;조남훈
    • Korea journal of population studies
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    • v.10 no.2
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    • pp.17-45
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    • 1987
  • This study contributes to understanding women's labor market behavior by focusing on a particular set of labor force transitions - labor force withdrawal and entry during the period surrounding the first birth of a child. In particular, this study provides a dynamic analyses, using longitudinal data and event history analysis, to conceptualize labor force behaviors in a straightforward way. The main research question addresses which factors increase or decrease the hazard rates of leaving and entering the labor market. This study used piecewise Gompertz model, following the guide of the non-parametric analysis on the hazard rates, which allowed relatively detailed description on the distribution of timing of leave and entry to the labor market as parameters of interest. The results show that preferences and structural variables, as well as economic considerations, are very important factors to explain the labor market behavior of women in the period surrounding childbirth.

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