• Journal of Genetic Medicine
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• v.5 no.2
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• pp.139-144
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• 2008

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.119-124
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• 2008

Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.

• Clinical and Experimental Pediatrics
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• v.45 no.8
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• pp.961-966
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• 2002

Purpose : We compared the underlying or associated diseases according to the frequency of platelet transfusions in neonates with thrombocytopenia to know the factors predicting which patients will require multiple platelet transfusions. We also compared mortality. Methods : A retrospective study was performed in 72 neonates who received the platelet transfusions in neonatal intensive care unit(NICU) between August 1996 and July 2001. Group I received one platelet transfusion and group II received two or more. We compared the frequency of underlying or assodiated diseases such as sepsis/disseminated intravascular coagulopathy(DIC), respiratory distress syndrome(RDS), intraventricular hemorrhage(IVH), patent ductus arteriosus (PDA), necrotizing enterocolitis(NEC), liver or renal disease, and mortality between two groups. Results : Of the 72 patients, 29(40.2%) received one and 43(59.7%) received two or more transfusions; 16(22.2%) received four or more. There were no statistically significant differences in gestational age, birth weight, sex, and maternal history between two groups. C-section rate was higher in group II(20.7% vs. 55.8%, P<0.05) and the incidence of PDA was higher in group I (55.2% vs. 30.2%, P<0.05). Otherwise, there were no statistically significant differences in the incidence of sepsis/DIC, RDS, IVH, RDS, CLD, NEC, liver or renal disease, pulmonary hemorrhage and hypoxic ischemic encephalopathy, and mortality between group I and group II. Conclusion : There was no significant difference in clinical morbidity and mortality according to the frequency of platelet transfusion in neonates with thrombocytopenia. Further study is needed to know the predicting factor for multiple platelet transfusions in neonates with thrombocytopenia.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.56-61
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• 2009

Purpose: Preeclampsia is a multifactorial disorder with genetic and environmental components. Recently, the STOX1 gene, identified as a candidate gene for preeclampsia in Dutch women, has been shown to be placentally expressed and subject to imprinting with preferential transmission of the maternal allele. The purpose of this study is to investigate whether there is an association between the STOX1 Y153H variation and preeclampsia in Korean pregnant women. Materials and Methods: This study involved 202 preeclamptic and 204 healthy pregnant women who were genotyped for the Y153H variant of the STOX1 gene using a commercially available SNapShot assay kit and an ABI Prism 3730 DNA Analyzer. Results: There were no significant differences in genotype frequencies of the Y153H variant of the STOX1 gene between preeclamptic patients and normal controls (P>0.05). The H allele frequency of the STOX1 Y153H variation was similar in patients with preeclampsia (87.1%) and in normal controls (86.5%). In addition, multiple logistic regression analysis showed that the YH, HH, and YH/HH genotypes were not associated with an increased risk of preeclampsia when compared to the YY genotype. Conclusion: This is the first study to characterize the Y153H variant of the STOX1 gene in Korean patients with preeclampsia. We found no differences in the genotype and allele frequencies between preeclamptic and normal pregnancies. Although limited by a relatively small sample size, our study suggests that the STOX1 Y153H variation is not associated with the development of preeclampsia in Korean pregnant women.

• Journal of Preventive Medicine and Public Health
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• v.18 no.1
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• pp.137-147
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• 1985

To assess the childhood immunization level of urban and rural areas, 250 mothers of $6{\sim}23$ months old children residing in Namsan 1 Dong, Taegu, and 264 mothers of the same age children residing in five areas of Kyungsan Gun where community health practitioners are assigned were interviewed in March, 1984. Immunization rate for BCG was 98.0% in urban area and 95.8% in rural area. Among children who had BCG vaccination 91.4% of them were immunized within 1 month after birth in urban area and 88.1% in rural area. The percentage of children who received three doses of DPT vaccine was 83.2% in urban, and 87.5% in rural area ana that for the polio vaccine was 80.8% in urban and 87.9% in rural area. Only a few children have never been immunized with either BCG or DPT or polio vaccine. Overall immunization rate for measles was 64.4% in urban area while it was 55.3% in rural area and that for mumps and rubella was 50.4% in urban area as compared with 36.0% in rural area. However, among children of 15 months old and above the percentage of measles vaccination was 85.3% in urban area and 73.7% in rural area. Mumps and rubella vaccination rate was 77.6% in urban area and 62.4% in rural area. These differences in measles, mumps and rubella vaccination rates between urban and rural areas were statistically significant (p<0.05). Such findings as improved immunization level, no significant differences in BCG, DPT and polio vaccination rate between urban and rural areas, and fewer mothers in rural area have not vaccinated their children than mothers in urban area because of their ignorance may be attributed to the general improvement of living standard and implementation of the maternal and child health services of the government. Nevertheless many of the mothers in rural as well as urban area have not immunized their children on time and measles, mumps and rubella vaccination rates are substantially lower than other childhood immunizations. Future immunization activity should be geared to reinforcing these areas.

• Neonatal Medicine
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• v.15 no.2
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• pp.142-151
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• 2008

Purpose : The aim of this study was to compare the clinical effects of modified porcine (Curosurf$^{(R)}$) and bovine (Newfactan$^{(R)}$) surfactants in the treatment of neonatal respiratory distress syndrome. Methods : Between April 2004 and December 2006, 65 neonates (birth weight ${\leq}$2,500 g and gestational age ${\leq}$35 weeks) with neonatal respiratory distress syndrome were treated in our neonatal intensive care unit with surfactant. Thirty-one neonates received Curosurf$^{(R)}$ and 34 neonates received Newfactan$^{(R)}$. The neonates were not enrolled if they had major congenital anomalies or meconium aspiration syndrome. We compared the changes in respiratory parameters after surfactant instillation, the incidences of acute and chronic complications, and the mortality between the two treatment groups. Results : Neonatal and maternal demographic characteristics were not different between the groups. The patterns of change in the respiratory parameters after surfactant instillation were not statistically different between the groups. The incidences of surfactant reinstillation and acute complications, such as pneumothorax, patent ductus arteriosus, pulmonary hemorrhage, and grade 3-4 intraventricular hemorrhage, were not different between the neonates who received Curosurf$^{(R)}$ and the neonates who received Newfactan$^{(R)}$. There were no statistically significant differences in the duration of mechanical ventilation, oxygen therapy, hospitalization, prevalence of bronchopulmonary dysplasia, periventricular leukomalacia, retinopathy of prematurity, necrotizing enterocolitis, and mortality between the groups. Conclusion : In the present comparative study, no significant differences in the clinical effects of Curosurf$^{(R)}$ and Newfactan$^{(R)}$ were observed.

• Journal of Yeungnam Medical Science
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• v.10 no.2
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• pp.298-305
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• 1993

In order to evaluate the clinical usefulness of maternal serum C-reactive protein measurement in early detection of infectious morbidity at term laboring women, serum C-reactive protein levels were measured in 521 healthy pregnant women ; 64 who were not in labor before term, 55 who were in labor before term, 71 who were not in labor at term and 331 who were in labor at term. The frequencies of elevated serum C-reactive protein level were compared in relation to the gestational weeks, the presence or absence of labor, the status of amniotic membranes and the degree of cervical dilation. The obtained results were as follows. 1. The frequencies of women with elevated serum C-reactive protein, 0.8mg/dl or higher and 2.0mg/dl or higher, in 521 health pregnant women were 12% and 4%, respectively. 2. C-reactive pretein levels of 0.8mg/dl or higher were more frequent in the group of women in labor than those not in labor(5.93%, vs. 13.73%, p<0.05), but the frequencies of C-reactive protein level of 2.0mg/dl or higher were not statistically different between both groups. The frequencies of C-reactive protein level of 0.8mg/dl or higher and 2.0mg/dl or higher were not statistically different between the groups before term and at term, intact and ruptured membranes, latent phase and active phase of labor, respectively. 3. Before term, C-reactive protein levels of 0.8mg/dl or higher and 2.0mg/dl or higher were more frequent in the group of women in labor than those not in labor(23.64 vs. 4.69, p<0.001 and 12.73% vs. 3.13%, p<0.05, respectively), but those statistical differences were not seen between both group at term. Above results and review of literature suggest that serum C-reactive protein level of 2.0mg/dl or higher may be reliable in early detection of infectious morbidity at term laboring women as well as laboring women before term, and the presence of subclinical infection should be suspected in the laboring women before term with serum C-reactive protein level of 0.8mg/dl or higher.

• Asian-Australasian Journal of Animal Sciences
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• v.28 no.3
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• pp.334-342
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• 2015

The present study was designed to evaluate how environmental factors in a dry-summer subtropical climate in Terceira-Azores (situated in the North Atlantic Ocean: $38^{\circ}43^{\prime}N27^{\circ}12^{\prime}W$) can affect dairy cow (Holstein) fertility, as well as seasonal influence on in vitro oocytes maturation and embryos development. Impact of heat shock (HS) effects on in vitro oocyte's maturation and further embryo development after in vitro fertilization (IVF) was also evaluated. For such purpose the result of the first artificial insemination (AI) performed 60 to 90 days after calving of 6,300 cows were recorded for one year. In parallel, climatic data was obtained at different elevation points (n = 5) from 0 to 1,000 m and grazing points from 0 to 500 m, in Terceira island, and the temperature humidity index (THI) was calculated. For in vitro experiments, oocytes (n = 706) were collected weekly during all year, for meiotic maturation and IVF. Further, to evaluate HS effect, 891 oocytes were collected in the cold moths (December, January, February and March) and divided in three groups treated to HS for 24 h during in vitro maturation at: C (Control = $38.5^{\circ}C$), HS1 ($39.5^{\circ}C$) and HS2 ($40.5^{\circ}C$). Oocytes from each group were used for meiotic assessment and IVF. Cleavage, morula and blastocyst development were evaluated respectively on day 2, 6, and 9 after IVF. A negative correlation between cow's conception rate (CR) and THI in grazing points (-91.3%; p<0.001) was observed. Mean THI in warmer months (June, July, August and September) was $71.7{\pm}0.7$ and the CR ($40.2{\pm}1.5%$) while in cold months THI was $62.8{\pm}0.2$ and CR was $63.8{\pm}0.4%$. A similar impact was obtained with in vitro results in which nuclear maturation rate (NMR) ranged from 78.4% (${\pm}8.0$) to 44.3% (${\pm}8.1$), while embryos development ranged from 53.8% (${\pm}5.8$) to 36.3% (${\pm}3.3$) in cold and warmer months respectively. In vitro HS results showed a significant decline (p<0.05) on NMR of oocytes for every $1^{\circ}C$ rising temperature ($78.4{\pm}8.0$, $21.7{\pm}3.1$ and $8.9{\pm}2.2$, respectively for C, HS1, and HS2). Similar results were observed in cleavage rate and embryo development, showing a clear correlation (96.9 p<0.05) between NMR and embryo development with respect to temperatures. Results clearly demonstrated that, up to a THI of 70.6, a decrease in the CR occurs in first AI after calving; this impairment was confirmed with in vitro results.

• Journal of agricultural medicine and community health
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• v.25 no.2
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• pp.427-440
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• 2000

A comparative study was made about health resources, medical care service statistics and public health service statistics by health subcenters at Jangdong and Jangpyung townships, Jangheung County, Chollanamdo before and after the unification of two health subcenter to improve their function. 1. While two general physicians, one dentist, 4 nurse aids arid one oral hygienist were working at two health subcenters with simple facility with examination room and public health office in 1997 prior to the unification, in 1999 after the unification of two health subcenters 14 staff including a specialist physician, a general physician, a dentist, a herb hygienist, a radiology technician and a physical therapist were working in the new health subcenters equipped with appropriate facilities in two storey building. 2. In 1997 before the unification the yearly total income of two health subcenters was 78,815 thousand won(about 14,000 won per capita) and the amount was 140,376 thousand won(about 25,000 won per capita) in 1999 after the unification. And the income was used for operation of health subcenters excluding personnel expense. 3. While 90.5% of visitors to the health subcenters came for general medical care, and 91.6% came for the revisit before the unification, after the unification 71.2% came for general medical care, 10.8% for dental care, 16.5% for oriental physician's care, 29.7% for the first visit and 70.3% for revisit. Most common problem cared for was musculoskeletal disorder like arthralgia. Average treatment cost per person per month was 9,363 won before the unification and 8,309 won after the unification. 4. Through the comparison of execution rate of public health services before and after the unification. the practice rate of most health service among target population including visiting service for chronic illness, maternal and child health service and immunization service increased after the unification. The practice rate of tuberculosis control service, hypertension control and diabetes management was a little decreased. In conclusion, continuous effort to satisfy all persons in two townships and evaluation are necessary to coincide with the spirit of unification of two health subcenters.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.2 no.1
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• pp.160-175
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• 1991

The purpose of this study is to investigate the parental marital relationships and the parent-child relationships of child psychiatric parents and its control group. This study was carried out two questionnaire instruments ; The marital satisfaction inventory(MSI) and the dyadic adjustment scale(DAS). The subjects are parents of the child psychiatric patients. A matched control group and parents of child psychiatric parents in Seoul area which were collected from July 1987 to September 1987, and classified into five subgroups : 1 Psychiatric disorder 2) Neurotic disorder 3) Tic disorder 4) Autistic disorder 5) Mental retardation. The results are as following ; 1) M.S.I scale scores of parents of patients group are lower than that of control group. 2) D.A.S scale score of parents of patients group is significantly lower than that of the control group(P<0.01). 3) The global distress scale(GDS) of the M.S.I. was most positively correlated with affective communication(AFC) and problem-sloving communication(PSC). 4) Female shoed more modern concept of role identification than male but tend to have heavier role assignment especially in child rearing practices which could be characterized by maternal domination. 5) Affective communication and sexual relationship between married couple and child rearing practices are influenced by their own family history of distress. 6) The marital global distress scale(GDS) score was highest in the parents of psychosis, the next in the parents of neurosis, autism, mental retardation, and tic disorder in descending order of severity. 7) The dyadic maladjustment score was highest in the parents of psychosis, the next in the parents of neurosis, tic, autism and mental retardation in descending order of severity. 8) Conflict in child rearing and parenting problems were particularly prominent in parents of the tic patients, and their marital relationship was not significantly disturbed. The above finding suggested that couple adjustment and marital dissatisfaction were closely related with child rearing problems and the children's disorder. So marital dissatisfaction and marital maladjustment seem to play a significant role in the genesis of psychosis and neurosis not much in autism and mental retardation.