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Establishment and Application of Molecular Genetic Techniques for Preimplantation Genetic Diagnosis of Osteogenesis Imperfecta (골형성부전증의 착상전 유전진단을 위한 분자유전학적 방법의 조건 확립과 적용)

  • Kim, Min-Jee;Lee, Hyoung-Song;Choi, Hye-Won;Lim, Chun-Kyu;Cho, Jae-Won;Kim, Jin-Young;Song, In-Ok;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.35 no.2
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    • pp.99-110
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    • 2008
  • Objectives: Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples carrying genetic conditions that may affect their offspring. Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. At least 95% of cases are caused by dominant mutations in the COL1A1 or COL1A2. In this study, we report on our experience clinical outcomes with 5 PGD cycles for OI in two couples. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of alkaline lysis and nested PCR protocol using heterozygous patient's single lymphocytes in the pre-clinical diagnostic tests for OI. We performed 5 cycles of PGD for OI by nested PCR for the causative mutation loci, COL1A1 c.2452G>A and c.3226G>A, in case 1 and case 2, respectively. The PCR products were analyzed by agarose gel electrophoresis, restriction fragment length polymorphism (RFLP) analysis with HaeIII restriction enzyme in the case 1 and direct DNA sequencing. Results: We confirmed the causative mutation loci, COL1A1 c.2452G>A in case 1 and c.3226G>A in case 2. In the pre-clinical tests, the amplification rate was 94.2% and ADO rate was 22.5% in case 1, while 98.1% and 1.9% in case 2, respectively. In case 1, a total of 34 embryos were analyzed and 31 embryos (91.2%) were successfully diagnosed in 3 PGD cycles. Eight out of 19 embryos diagnosed as unaffected embryos were transferred in all 3 cycles, and in the third cycle, pregnancy was achieved and a healthy baby was delivered without any complications in July, 2005. In case 2, all 19 embryos (100.0%) were successfully diagnosed and 4 out of 11 unaffected embryos were transferred in 2 cycles. Pregnancy was achieved in the second cycle and the healthy baby was delivered in March, 2008. The causative locus was confirmed as a normal by amniocentesis and postnatal diagnosis. Conclusions: To our knowledge, these two cases are the first successful PGD for OI in Korea. Our experience provides a further demonstration that PGD is a reliable and effective clinical techniques and a useful option for many couples with a high risk of transmitting a genetic disease.

Food Safety Behavior of Low-Income Parents and Guardians of Infants in the U.S.

  • Kwon, Junehee
    • Journal of Community Nutrition
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    • v.4 no.2
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    • pp.71-77
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    • 2002
  • The U.S. government have concerned about food safety over the last two decades. The concept of the continuum, “from farm to table” was created to explore ways to prevent foodborne illnesses in all stages of food systems. On the continuum, consumers were recognized as the last line of defense to prevent foodborne illnesses, and much efforts were made to educate them safe food handling. This research was conducted to investigate infant formula handling and hand-washing behaviors of low-income families, especially parents and guardians of infants. The subject was selected from participants of the Special Supplemental Nutrition Program for Women, Infants, and Children(WIC), a federal program for low-income families in the U.S. Stratified 200 local WIC offices were randomly selected based on the number of WIC participants in each state, and 20 randomly selected WIC participants from each selected office were asked to complete questionnaires. SPSS for Windows was used for statistical analyses including frequency, cross- tabulation, and chi-square analyses. A total of 87 WIC offices returned completed question-naires (N = 1,598), and 492 were parents/guardians of infants. Most respondents were white (51.3%), high school graduates (41.5%) , and participated in WIC>1 yew. Most respondents (80.9%) teamed about food safety from WIC, and only limited number of respondents (10.2%) used the Internet for food safety information. Most respondents stored prepared formula safely (94.6%) and discarded formula left in the bottle after feeding (84.5%) , but fewer used brushes to wash formula bottles (71.3%) and boiled water(15.2%) Chi-square analyses showed respondents in different race/ethnicity had different food handling behaviors. Respondents showed generally good hand-washing behaviors as 94.2% always washing hands after using restroom, 93.2% after touching meat items, and 87.l% before preparing foods. Fewer respondents, however, washed hands after changing baby diapers (77.0%) and touching pets (67.2%). Researchers concluded that WIC education on food safety was effective, as limited food safety education covered during WIC education were followed well (e.g., storing prepared formula and discarding leftover). However, results also indicated that there were many behaviors needed to be reinforced especially to overcome family tradition and culture on food handling behaviors. The WIC may serve as good food safety resources and education agents utilizing mandatory education sessions because the vast amount of food safety information on the Internet was not readily accessible for this low-Income Population.

Plasma Concentrations of Fe, Cu, Mn, and Cr of Maternal and Umbilical Cord Blood during Pregnancy

  • Lee, Jong-Im;Lim, Hyeon-Sook;Cho, Young-Sook
    • Preventive Nutrition and Food Science
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    • v.7 no.3
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    • pp.282-286
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    • 2002
  • Anemia is prevalent among pregnant women in Korea, and Fe deficiency anemia is a major nutritional problem throughout the world. Because studies of Cu, Mn, and Cr levels excluding Fe are rare, we were interested in changes in the nutritional status of these trace minerals and their relationship to hematogenesis. Accordingly, we determined the changes in plasma Fe, Cu, Mn, and Cr concentrations of maternal and umbilical cord blood during pregnancy, and evaluated the relationships between them at different time points during pregnancy. A total of 81 women participated in the study: 26 subjects in the first trimester, 23 in the second, and 32 in the third trimester. Plasma Fe levels were lower significantly (p<0.05) in the third trimester. Plasma Cu level ($\mu\textrm{g}$/dL) in each trimester were 86.6$\pm$13.8, 111.6$\pm$27.9, and 114.0$\pm$29.7, respectively; with significant increases (p<0.()5) in the second and third trimester. Plasma Mn concentrations (pg/dL) in each trimester were 212.6$\pm$89.0, 234.0$\pm$140.0, and 240.3$\pm$166.0, respectively and tended to increase, though not significantly, as the pregnancies progressed. The plasma concentrations of Cr (pg/dL) in each trimester were 3.7$\pm$2.0, 3.1$\pm$1.0, and 2.4$\pm$1.2, respectively; and was significantly lower (p<0.05) in the third trimester. In umbilical cord blood, the plasma level of Fe was 194.8$\pm$74.6 $\mu\textrm{g}$/dL, Cu was 57.5$\pm$10.9 $\mu\textrm{g}$/dL, Mn was 482.4$\pm$111.1 pg/dL, and Cr was 9.3$\pm$2.8 pg/dL. Plasma concentrations of Fe, Cu, Mn, and Cr of cord blood were 300 %, 50 %, 200 %, and 370% as compared to those of maternal blood in the third trimester. These results suggest that an active transport mechanism for the transport of Fe, Mn, and Cr from mother to fetus may exist, whereas, for Cu, the placenta appears to have a blocking effect on the transport from mother to baby.

The Experience in Deciding for Childcare of Unmarried Lone Mother : Phenomenological Research (미혼 양육모의 양육 결정 체험 : 현상학적 연구)

  • Kim, Hye-Seon;Kim, Eun-Ha
    • Korean Journal of Social Welfare
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    • v.58 no.1
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    • pp.373-393
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    • 2006
  • This study aimed at understanding the experience in deciding for childcare of unmarried lone mother and searching for intervention methods through in-depth examination of the essence of the experience. To achieve this, the Colazzi analysis of phenomenological research was applied. The subjects of study were 7 unmarried lone mothers in early age of the twenties and thirties, who resided in an institution for unmarried lone mothers. An in-depth interview was held individually with them with question of "What is the experience in deciding for childcare as a unmarried lone mother" twice on the average from Nov. 2003 to Feb. 2005. The results found that a unmarried lone mothers' experience in childcare meant 'resurrection' through analyzing 22 themes and 7 theme clusters(confusion due to pregnancy, harsh feeling for reality suffering alone, feeling of love for a baby, mental conflict about childcare, decision toward childcare, firm in decision, hope for resurrection). Although the results of this study have the limitation of generalization due to phenomenological study, it will contribute to accepting and understanding mother-and-child families as one type of family rather than regarding them as being difficult or alienated in family and society, to recognizing the need of taking back their rights, and to suggesting intervention methods for unmarried lone mothers.

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Patterns of Ceremonial Foods for Middle-aged Residents in Ganghwa (강화 지역 중년 남.녀의 의례 음식 섭취 실태)

  • Kim, Eun-Mi
    • Journal of the East Asian Society of Dietary Life
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    • v.18 no.4
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    • pp.455-465
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    • 2008
  • The data for this study were collected in a survey conducted in Ganghwa. The questionnaire was specifically designed to identify ceremonial and prohibitive foods in Ganghwa. Quantitative and qualitative data were reported as frequencies, and $X^2$ analysis was employed to assess the relationships among religious. Ceremonial foods were important on the 15th of January by the lunar calendar(87.5%), the Korean Thanks giving Day(84.4%), New Year's Day(79.8%), and the winter solstice(77.4%). A table in celebration of a baby's first birthday included baekseolgi, rice cake with Indian millet and red bean, songpyeon, injeolmi, fruits, and japchae. Women who had delivered a child ate boiled rice and seaweed soup. Birthday parties was hosted in 67.0% of the homes. The reasons for not having a birthday party were the inability to make enough time(38.2%) and difficulties with work(19.4%). Pyebaek foods were jerked beef, chicken, jujube and chestnuts. A 60th birthday anniversary was the reason for 31.4% of the respondents to eat ceremonial foods, and a Memorial Day service that carried in the eldest son was the reason in 53.4% of the families. The Memorial-Day service foods were learned by a Catholic mother(66.7%), by the husband's Buddhist mother(37.9%), or by Confucianism(54.5%)(p<0.05). Therefore, it is important to increase the understanding of celebrational foods and to enforce systematic public relations.

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Men's Participation of the Market Work and the Housework - Focused on the Qualitative Analysis of the Contents in the Newspaper Articles (남성의 시장노동과 가사노동 - 신문기사 내용에 대한 질적 분석을 중심으로)

  • Cho Seong-Eun;Jeong Jee-Young;Yoon So-Young
    • Journal of Families and Better Life
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    • v.24 no.1 s.79
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    • pp.129-140
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    • 2006
  • The purpose of this study was to understand the labor division between men's housework and market work and to research the change of men's contribution to housework. And it was also examined what kinds of valuables work on a change in men's market work and housework. The information about men's change in the labor division was collected from the biggest 5 news papers in Korea for last five years for this study. And either men's new participation trend to household work did. Words searched for this study were men, labor, family, home, housewife, work, household work, father etc. Korean men have experienced a overloaded breadwinner role and have worked most in the world since 1960s. But Korean men's working time was continuously decreased a little every year. As Korean Companies had fired many worker during IMP economic crisis period, Korean men had to work more than before because of decreased fellows and they should have concentrated on their work at the sacrifice of private life and family-sharing time. On the other hand, some men were started to participate to do housework as a results of long-unemployment and early retirement after this periods. 5 day working system be in forced gradually since 2003 especially make men come back home and interest on housework. So Korean men's housework participation is gradually increasing by the practical application of sex-equitable politics such as 5 day working system and men's suspension regime for baby care. father's increased participation to children education and care, men's new family-oriented life style, dual-sexuality education system, and socially changed perception to husband housemaker. These interrelated trends demands us to shape a new labor division pattern in the family that make change the breadwinner/homemaker conception by the gender role. Now, all of family, men, women, and children have to join housework. It would help women, men, and all families make more human and equitable relationship.

A Study on the Knowledge of Child Development of Mothers with Infants (영아기 첫자녀를 둔 어머니의 아동발달지식에 관한 연구)

  • Cho, Bok Hee;Jung, Min Ja;Kim, Yang Eun
    • Korean Journal of Childcare and Education
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    • v.2 no.1
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    • pp.89-109
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    • 2006
  • The purpose of this study is to investigate the level of knowledge that mothers have on child development. To do so, a Knowledge of Child Development Inventory(KCDI) developed by Larsen &Juhasz(1986) was carried on to 156 mothers with an infant range from birth to age 24 months. The findings of the study were twofold: First, 70% of the questions on average were answered correctly by the participants. In other words, mothers generally demonstrated a high level of knowledge on child development. With regard to knowledge of child development, their knowledge on physical development of children was relatively low in comparison with that of cognitive and emotional development. In addition, mothers with a girl were more aware of child development especially in relation to child's emotional development. Also, mothers who delivered a heavier baby at birth possessed a higher level of knowledge concerning child's physical development. Second, other external factors, such as the level of family income and mother's education, played a significant role in affecting the level of knowledge on child development. Unsurprisingly, mothers with a higher income and education level demonstrated a higher level of knowledge on child's cognitive development. The findings of the study implicates that mothers seldom demonstrate a proper level of knowledge on child development. Hence, this study suggests that a practical, functional training services and resources for current and future mothers must be ensued.

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Evaluation of Genome Based Estimated Breeding Values for Meat Quality in a Berkshire Population Using High Density Single Nucleotide Polymorphism Chips

  • Baby, S.;Hyeong, K.E.;Lee, Y.M.;Jung, J.H.;Oh, D.Y.;Nam, K.C.;Kim, T.H.;Lee, H.K.;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.11
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    • pp.1540-1547
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    • 2014
  • The accuracy of genomic estimated breeding values (GEBV) was evaluated for sixteen meat quality traits in a Berkshire population (n = 1,191) that was collected from Dasan breeding farm, Namwon, Korea. The animals were genotyped with the Illumina porcine 62 K single nucleotide polymorphism (SNP) bead chips, in which a set of 36,605 SNPs were available after quality control tests. Two methods were applied to evaluate GEBV accuracies, i.e. genome based linear unbiased prediction method (GBLUP) and Bayes B, using ASREML 3.0 and Gensel 4.0 software, respectively. The traits composed different sets of training (both genotypes and phenotypes) and testing (genotypes only) data. Under the GBLUP model, the GEBV accuracies for the training data ranged from $0.42{\pm}0.08$ for collagen to $0.75{\pm}0.02$ for water holding capacity with an average of $0.65{\pm}0.04$ across all the traits. Under the Bayes B model, the GEBV accuracy ranged from $0.10{\pm}0.14$ for National Pork Producers Council (NPCC) marbling score to $0.76{\pm}0.04$ for drip loss, with an average of $0.49{\pm}0.10$. For the testing samples, the GEBV accuracy had an average of $0.46{\pm}0.10$ under the GBLUP model, ranging from $0.20{\pm}0.18$ for protein to $0.65{\pm}0.06$ for drip loss. Under the Bayes B model, the GEBV accuracy ranged from $0.04{\pm}0.09$ for NPCC marbling score to $0.72{\pm}0.05$ for drip loss with an average of $0.38{\pm}0.13$. The GEBV accuracy increased with the size of the training data and heritability. In general, the GEBV accuracies under the Bayes B model were lower than under the GBLUP model, especially when the training sample size was small. Our results suggest that a much greater training sample size is needed to get better GEBV accuracies for the testing samples.

The Effect of Social Support Intervention on Mood and Maternal Confidence of Premature's Mothers. (사회적지지 중재가 미숙아 어머니의 정서와 모성역할 자신감에 미치는 영향)

  • Lee, In-Hye
    • Journal of Korean Academy of Nursing
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    • v.30 no.5
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    • pp.1111-1120
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    • 2000
  • The purpose of this study is to examine the effect of social support intervention on mood and maternal confidence of premature's mothers. The social support intervention is known to induce improved mood state and provide information on caretaking so as to increase the maternal confidence in the mother of a premature. To systematically investigate its effect, this study employed a nonequivalent randomized post-repeated quasi-experimental design. The intervention was given individually to mothers of prematures five times spanning five weeks. The sample consisted of the 50 mothers (experimental 27, control 23) of a premature. The data were collected using the structured questionaires twice as post tests. Various instruments were used in this study. The POMS developed by Lee(1990) was used to measure the mothers' mood state, Mother and Baby Scales by Wolke et al (1987). The results are as follows: 1. For the hypothesis test to see the effect of the social support intervention, the mean of the experimental group and the control group was compared by means of t-test and the following results are obtained. Hypothesis I. "The mood state of mothers with social support intervention is more positive than that of the mothers without such intervention." was not statistically supported and thus discarded (t=.799, p=.429). However the mean scores were 49.68 and 51.38 for the experimantal and control group, respectively, indicating more positive mood for the experimental group. Hypothesis II. "The maternal confidence of mothers with social support intervention is higher than that of the mothers without the tervention." was statistically supported (t=3.667, p=.001). 2. The mean score of the mood state was highest before discharge (52.29), meaning most negative, declined to 49.68 shortly after the discharge, again increased a bit to 50.07 at four weeks after the discharge, and stabilized to 49.22 around six weeks after the discharge. On the other hand the mean score of the maternal confidence was continuously increased with time. In view of the above results, it is concluded that the social support intervention with a preprogrammed protocol has the definite positive effect on increasing the maternal confidence and positive effect on improving mother's mood state.

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Analysis Method of Parabens in Human Breast Milk by LC-MS/MS System (LC-MS/MS 시스템을 이용한 모유 중 파라벤류 분석법 확립)

  • Park, Na-Youn;Lee, Eun-Hee;Kho, Younglim
    • Journal of the Korean Chemical Society
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    • v.60 no.2
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    • pp.118-124
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    • 2016
  • Parabens were commonly used for preventing the growth of microorganisms as preservatives in the pharmaceutical, cosmetic and food industry. Also, parabens are known endocrine disruptors because of their estrogenic effects on human. Parabens affect the endocrine system and show adverse effect such as, genital malformations, precocious puberty and testicular cancer in young children, infants and fetuses. In this study, we developed analytical method for four parabens (methyl paraben, ethyl paraben, propyl paraben, butyl paraben) in human breast milk which frequently consumed by newborn baby. The analytes were extracted using liquid-liquid extraction (LLE) after enzyme hydrolysis with protease and lipase, then quantitative analysis was performed by liquid chromatography tandem mass spectrometry (LC-MS/MS). The method validation results were as follows; the linearity of calibration curves were excellent with coefficient of determinations (r2) higher than 0.999, the limit of detections (LODs) were 0.019~0.044 ng/mL, the accuracies were 85.3~105.9% and the precisions were lower than 10%. The average concentration ± standard deviation of parabens in ten human breast milk sample were MP 0.660 ± 0.519 ng/mL, EP 1.631 ± 2.081 ng/mL and PP 0.326 ± 0.320 ng/mL, and BP was not detected.