• Journal of Genetic Medicine
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• v.9 no.2
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• pp.73-77
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• 2012

Purpose: Fragile X carrier detection before or at early pregnancy through a wide screening program may not only confer a risk of having offspring with Fragile X syndrome (FXS), but may also confer a risk for Fragile X-associated primary ovarian insufficiency and Fragile X-associated tremor/ataxia syndrome. However, prior to the implementation of such a program, the carrier prevalence in a population and the availability of effective screening test should be evaluated. The aim of our study was to determine the prevalence of premutation carriers and to evaluate the feasibility of screening test. Materials and Methods: The blood samples were obtained from 8,641 pregnant women with no family history of mental retardation. We performed a three-primer CGG repeat primed (RP) PCR using the AmplideX$^{TM}$ FMR1 PCR kit (Asuragen, Inc. Austin, TX, USA). Samples showing full mutation alleles were reflexed to Southern blot analysis for methylation status and sizing. Results: Among the 8,641 women, we found 8 premutation carriers (1:1,090, 0.09%) and 46 women with an intermediate allele (1:190, 0.53%). No woman was found to carry the fully mutated allele. All the detected alleles were within the CGG repeat range of 8-117. Among the 8,641 samples, 29 and 30 CGG repeats represent 66.6% of all cases. The CGG RP PCR method provides robust detection of expanded alleles and resolves allele zygosity, thus minimizing the number of samples that require Southern blot analysis. Conclusion: This is the first study that has focused on the prevalence of FXS premutation carriers and FMR1 allele distribution in normal pregnant women. These data have important implications for population-based fragile X carrier screening in Korea.

• Journal of Environmental Health Sciences
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• v.34 no.1
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• pp.12-19
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• 2008

We evaluated the relationship between birth weight and mercury exposure levels in Seoul, Korea, by following a cohort of pregnant women and the outcomes of their pregnancies between 2001-2005. Eighty-five pregnant women were recruited into this study after obtaining informed consent. Samples were collected at delivery from normal pregnant women who were living in the city of Seoul, Korea. Mercury concentrations in 85 sets of maternal and cord blood samples were measured using a gold-amalgam collection method. We used multiple regression analysis to analyze the effect of mercury exposure on birth weight. The mean levels of total mercury concentrations were 5.41(ppb) in maternal blood of pregnant women and 3.58(ppb) in umbilical cord blood. The mean concentration of umbilical cord blood mercury exposures was higher than the level recommended by WHO. There was a significant correlation between maternal and cord blood mercury concentrations. Mercury concentrations of umbilical cord blood was associated with birth weight. In addition, after adjusting for potential confounding factors, we found that mercury exposure may reduce the birth weight. This study suggests that exposure to mercury concentration during pregnancy contributes to the risk of low birth weight. Therefore, prenatal and environmental education for various and possible sources of mercury exposure might be necessary for the good health of babies. The finding of this study supports the construction of national policy for environmental health management.

• Women's Health Nursing
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• v.2 no.1
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• pp.5-24
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• 1996

The Delivery Process can be viewed as one of the developmental crisis that forces the majority of women. During the labor and delivery process the women may face a variety of problems and pain with all its subjectivity. This developmental crisis may lead a pregnant women to have a negative experience in delivery. For nurses, to help to pregnant women check with the crisis and perceived support and to positive experience. This study intended to analyze the pregnant women's delivery experience according to supporter during labor. The subjects for this study were 45 pregnant women who had normal delivery without complications, within 37 to 42 weeks of pregnancy. Data Collection was done from April 24th to May 20th 1995 by two instruments, a support measurement scale and a delivery experience measurement scale which were consisted it 18-items scale developed by researcher. The data was analyzed by SPPS program using descriptive statistic Kruskal-Wallis one way analysis and Spearman Correlation Coefficient. The result of this study are as follows. 1. Support distribution by support contents is shown is order of holding the hands (97.8%), help to urination(86.7%), bed arrangement(57.8%), massaging the arms and legs(55.6%), changes in posture(44.4%), teaching how to produce power(44.4%), while emotional support is disclosed in order of sympathy(97.8%), encouragement(82.2%), hearing the needs(60.0%), However, information support was as low as less than 33.3%. 2. The extent of delivery experience a Pregnant woman perceives is revealed in order of a sense of comfortableness(44%), satisfaction(43.2%), reduction of fear(43.2%), familiarity (42.8%), self-confidence (42.5%), decrease of laborpain(39.9%). 3. The extent of delivery support a pregnant woman perceives reveals that physical support($x^2$=22.4452, P=.000) and information support($x^2$=7.5187, P=.0233) Show a significant difference among the mothers group, the mothers-in-law group, the husbands group, but to significant difference was found in emotional support among them. 4. The extent of delivery experience a pregnant woman perceives represents a significant difference in order of the mothers group, the mothers in-law group, and the husbands group($x^2$=13.4255, P=.0012). 5. A positive correlation was manifested between the extent of support and delivery experience a pregnant woman perceives(r=.8643, P=.000). This information can be utilized as data to further the understanding delivery experience according to supporter. In Consequence, it is recommended that the range of family support limited to husband should be expended including mother and mother-in-law.

• Clinical and Experimental Reproductive Medicine
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• v.30 no.3
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• pp.223-231
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• 2003

Objective: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. Methods: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. Results: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Conclusion: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.4 no.1
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• pp.46-53
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• 1993

To find some involvement of environmental factors in autism, season of birth, birth order, and maternal age at birth of autistic children were investigated Total number of clinical outpatient autistic children was 357, which consisted of 319 male and 38 female, then male-to-female sex ratio was 8.4 to 1, and all subjects were born during $1986{\sim}1988.$ These data were compared with those of controlled general populations. The results were as follows : 1) In monthly and seasonal distributions of birth, autistic children were not different from normal control 2) Comparing with control group by Slater's and Greenwood-Yule's birth order calculation methods, there was no significant difference in birth order of autistic children 3) The maternal ages at birth in autistic group were significantly higher than those of control group(P<01) 4) High-risk pregnancies were significantly frequent in autistic group compared with control group(p<01)Our study supported the idea that at least some environmental factors, especially at-risk pregnancy, are involved in autism causation.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.53-57
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• 1998

Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

• 모자간호학회지
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• v.2 no.1
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• pp.5-20
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• 1992

This study was undertaken to identify the levels and affecting factors of the maternal role attainment(MRA) in the primipara during the postpartum period. The healthy ninety primiparous from the one university hospital and two local clinics in KwangJu city were selected and two Semantic Differential Scales (SD-Myself as Mothers, SD-My Baby) and the Pharis Self Confidence Scale were used in this study. Questionnaires were distributed at the 3rd days and the 4-6 weeks of the primiparous not showing any complication after normal delivery. The data collected were analysed statistically using t-test, Pearson's Product Moment Correlation Coefficient and ANOVA. The results obtained were summarized as follows; 1) On the 3rd day after the delivery, the scores of SD-myself as mother, SD-baby and Pharis Self Confidence were 70.6 points, 73.6 points and 78.6 points, respectively, showing the low level of MRA. 2) On the 4-6 weeks after delivery, the score of SD-myself as mother, SD-baby and Pharis Self Confidence were 72.8 points, 77.9 points, and 86.9 points, respectively, indicating the moderate level of MRA. 3) The mean scores of the SD scale and the Pharis Self Confidence during the postpartum periods were higher than those of the 3rd days, showing the SD-myself as mother (t=-2.09, P<.05), SD-baby(t=-4.12, P<.001), Pharis Self Confidence(t=-6.59, P<.001), respectively. 4) Positive correlations (r=.24$\sim$.69) were shown in the concepts related to the MRA and the cognitive-motor skill components and cognitive-affective skill components of the MRA became harmonious over time. 5) The relationships between the score of the MRA and the demographic and obstetric variables were as follows ; a) the score of the MRA in the twenties was higher than those of the thirties. b) the group with higher educational background showed higher MRA socres than the group with lower one. c) those who wanted pregnancy sustenance had higher MRA scores than those who did not. d) the group that did think of festus-feature represented higher MRA scores than those who did not. e) the group of mothers who have the daughters showed higher MRA scores than those who have boys. It can be concluded from the results that the MRA in the primiparous increased gradually, and that the cognitive-motor skills and cognitive-affective skills became harmonious over time. The level of the MRA was affected partly by the mothers general, obstetrical variables. Following suggestion were made oil the basis of the present study ; a) The longitudinal study on the MRA is needed. b) Multivariate analyses should be done for the identification of the factors influcening on the MRA. c) Education program for primiparous mother should be designed and developed to improve the MRA.

• Development and Reproduction
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• v.21 no.2
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• pp.157-165
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• 2017

One of the reasons to causing blood coagulation in the tissue of xenografted organs was known to incompatibility of the blood coagulation and anti-coagulation regulatory system between TG pigs and primates. Thus, overexpression of human CD73 (hCD73) in the pig endothelial cells is considered as a method to reduce coagulopathy after pig-to-non-human-primate xenotransplantation. This study was performed to produce and breed transgenic pigs expressing hCD73 for the studies immune rejection responses and could provide a successful application of xenotransplantation. The transgenic cells were constructed an hCD73 expression vector under control porcine Icam2 promoter (pIcam2-hCD73) and established donor cell lines expressing hCD73. The numbers of transferred reconstructed embryos were $127{\pm}18.9$. The pregnancy and delivery rate of surrogates were 8/18 (44%) and 3/18 (16%). The total number of delivered cloned pigs were 10 (2 alive, 7 mummy, and 1 died after birth). Among them, three live hCD73-pigs were successfully delivered by Caesarean section, but one was dead after birth. The two hCD73 TG cloned pigs had normal reproductive ability. They mated with wild type (WT) MGH (Massachusetts General Hospital) female sows and produced totally 16 piglets. Among them, 5 piglets were identified as hCD73 TG pigs. In conclusion, we successfully generated the hCD73 transgenic cloned pigs and produced their litters by natural mating. It can be possible to use a mate for the production of multiple transgenic pigs such as ${\alpha}-1,3-galactosyltransferase$ knock-out /hCD46 for xenotransplantation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.164-171
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• 2005

Purpose: The aim of this study was to evaluate the clinical characteristics, endoscopic findings and risk factors related to the upper gastrointestinal bleeding (UGIB) seen in full-term infants. Methods: A clinical analysis for 9 cases with UGIB confirmed by endoscopy was carried out retrospectively. Patients were admitted to the Department of Pediatrics, Eulji Hospital, from January to December 2003. Results: UGIB from gastric or duodenal mucosal lesions has been seen in 0.13% in newborns infants. All patients were full-term AGA neonates without asphyxic findings at birth. Hematemesis, melena or recurrent vomiting developed within $4.4{\pm}3.8days$ after birth. Vital sign and laboratory test was normal on admission. Endoscopic findings showed hemorrhagic gastritis in 6 cases and peptic ulcers in 3 cases. All patients were successfully managed by medical treatment for $18.6{\pm}5.0days$. On treatment, clinical symptoms improved within $0.9{\pm}0.3days$. Follow-up endoscopy was not performed because there was no recurrence of symptoms in all patients. Case mothers had no history of gastritis, ulcer or anti-ulcer medications before and during pregnancy. Conclusion: If the healthy full-term infants express UGIB within a few days after birth, it is necessary to take careful history of family, mother and delivery process and to practice endoscopy for mucosal lesions of the patients. A follow-up endoscopy dose not seem to be necessary if the infant is clinically well.

• Journal of Veterinary Clinics
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• v.7 no.2
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• pp.511-515
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• 1990

Induction of twinning was attempted by transfer of two whole- or demi-embryos in Holstein cows and heifers. Cows were superovulated with follicle stimulating hormone(FSH) administered twice daily in intra-muscular injection. On day of 6.5 to 7 post-estrus, embryos were collected nonsurgically, Normal morulae and early balstocysts were obtained from superovulated cows. The embryos were hisected with a micro-blade made from a razor. Twenty seven pairs of half embryos were successfully produced and 23 pairs of half embryos were transferred to recipients( Group A). Twenty cows were treated with low unit of FSH (3mg${\times}$2,2mg${\times}$2 ; Group B1, 2mg${\times}$2, 1mg${\times}$2, 1mg${\times}$2 ; Group 32) to induce double or triple ovulations. The cows of Group B1 and B2 were Inseminated artificially(A1) at following estrus. Twenty four heifers were bred by A1 and received an additional embryo into the uterine horn contralateral to the corpus luteum(CL) 6 days later(Group C). One embryo was transferred into each uterine hem of 16 heifers 6 days after estrus(Group D). Fourteen heifers were received two embryos into the uterine horn ipsilateral to the CL at day 6 of estrous cycle(Group I). Pregnancy rates at 60 days in Group A, B1, B2, C, D and E were 34.8％, 70.0％, 60.0％, 66.7％, 62.5％ and 57.1％, respectively. Twinning rates were 8.7％, 20.0%, 10.0％, 16.7％, 18.7％ and 21.4％, respectively. The present experiments demonstrate that FSH treatment( Group 31) and ipsilateral transfer( Group I ) of two whole-embryos are more useful methods to produce twins than the others.