• Title/Summary/Keyword: 결합적 연구방법론

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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.

Application of Radiological Study by Small Bowel Disease - Comparison of Diagnostic Results of Small Bowel Series and Abdominal Pelvic Computed Tomography - (소장 질환별 방사선학적 검사의 적용에 관한 연구 - 소장조영술과 복부골반전산화단층촬영의 결과 분석을 중심으로 -)

  • Lee, Hee-Jung;Son, Soon-Yong;Lee, Won-Hong
    • Journal of radiological science and technology
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    • v.28 no.4
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    • pp.279-286
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    • 2005
  • Purpose : There are two modalities, those are small bowel series(SBS) and abdominal pelvic computed tomography(CT), for diagnosis of small bowel disease. The aim of this study is to lend radiological technologists who are doing the two modalities assistance in the understanding characteristic of disease by comparing the two results. Meterials and method : 284 patients were examined the two SBS and abdominal pelvic CT together from 1999 to 2003. 250 ml $BaSO_4$ suspension 40 w/v% and 600ml carboxy methyl cellulose 0.5 w/v% were used for SBS. Abdominal Pelvic CT was examined in one hour before taking 450 ml $BaSO_4$ suspension 1.5 w/v%. The CT scan was done in 72 sec after 150 ml contrast media injection. the used protocol was helical mode 5:5 mm pitch 1.375:1, speed 27.50, exposure 120 kv, 240 mA, tube rotation time 0.5 sec. the statistic analysis was conducted with statistical program SPSS 10 version with frequency and crossing analysis. P-value less than 0.05 were considered significant. Results : In the results of SBS, normal findings were 131 patients(46.1%), inflammatory bowel disease(IBD) 64(22.9%), ischemia+ileocolitis+vasculitis 22(7.7%), Obstruction+stricture 21(7.7%) and Others 45(15.9%). In the results of abdominal pelvic CT, normal findings were 103 patients(36.3%), inflammatory bowel disease 65(22.9%), wall thickening+lymphadenopathy 42(14.8%), Fluid collection 17(6%), and Others 57case(20%). The same results of the two were 130patients(45.8%). 30patients(10.6%) of normal finding in SBS were diagnosed as wall thickening+lymphadenopathy and IBD in CT, and 15patients(5.3%) of normal finding in CT were diagnosed as ischemia+ileocolitis+vasculitis, mass and IBD in SBS(p<0.05). Transit time delay was diagnosed in 10patients(3.5%) on only SBS, wall thickening+lymphadenopathy was diagnosed in 20patients(7%) in only CT(p<0.05). Conclusion : We think that proper examination method will be selected in the small bowel disease, if we understand the characteristics of the disease and method.

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Epstein-Barr Virus Antibodies in Korean Mothers and Their Neonates (산모와 신생아의 Epstein Barr Virus 항체가에 관한 연구)

  • Shin, Young Kyoo;Eun, Baik Lin;Park, Sang Hee;Lim, Chae Seung;Kim, Young Sik
    • Pediatric Infection and Vaccine
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    • v.5 no.1
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    • pp.121-127
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    • 1998
  • Purposes : This study was performed to evaluate the seropositivities and levels of term pregnant women and their neonates, and the transplacental transfer rate of maternal Epstein-Barr Virus-specific IgG(VCA IgG and EBNA IgG) from term pregnant women to their neonates. Subjects and Methods : During Jan. 1, 1997 to Mar. 31. 1997, we collected the 42 pairs of sera from pregnant women and umbilical cord of their neonates in Korea University Ansan Hospital. The serum levels of VCA IgG and EBNA IgG were measured by the ELISA method. Results : 1) The seropositivities of VCA IgG were 100% in mothers and neonates. There was no statistical difference of mean VCA IgG levels between mothers and neonates. There was significant correlation of VCA IgG levels between maternal sera and neonatal umbilical cord sera(correlation coefficient r=0.5214, P<0.001). 2) The seropositivities of EBNA IgG were 100% in mothers and neonates. There was no significant difference of the mean EBNA IgG levels between mothers and neonates. There was significant correlation of EBNA IgG levels between maternal sera and neonatal umbilical cord sera (correlation coefficient r=0.7244, P<0.001). 3) There was no correlation between VCA IgG and EBNA IgG levels of maternal sera. Conclusion : Seropositivities of EBV CA IgG and EBNA IgG of term-pregnant women and their neonates were 100% and no significant differences of antibody levels were found in two groups. It seems that EBV Antibody levels in Korean mothers and neonates were high enough to protect primary EBV infection during early infancy.

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A Study of Adjustment for Beginning & Ending Points of Climbing Lanes (오르막차로 시.종점 위치의 보정에 관한 연구)

  • 김상윤;오흥운
    • Journal of Korean Society of Transportation
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    • v.24 no.5 s.91
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    • pp.35-44
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    • 2006
  • Acceleration and deceleration curves have been used for design purposes worldwide. The curve in design level has been regarded as an single deterministic curve to be used for design of climb lanes. It should be noted that the curve was originally made using ideal driving truck and that the curve is applied during design based on the assumption of no difference between ideal and real driving conditions. However. observations show that aged vehicles and lazy behavioring drivers nay make lower performance of vehicles than the ideal performance. The present paper provides the results of truck speeds at climbing lanes then probabilistic variation of acceleration and deceleration corves. For these purposes. a study about identification of vehicle makers, and weights for trucks at freeway toll gates and then observation of vehicle-following speed were performed. The 85%ile results obtained were compared with the deterministic performance curves of 180, 200, and 220 Ib/hp. It was identified that the performance of 85%ile results obtained from vehicle-following-speed observations were lower than one from deterministic performance curves. From these results, it may be concluded that at the beginning Point of climbing lanes additional $16.19{\sim}67.94m$ is necessary and that at the end point of climbing lanes $53.12{\sim}103.24m$ of extension is necessary.

Evaluation of a Water-based Bolus Device for Radiotherapy to the Extremities in Kaposi's Sarcoma Patients (사지에 발병한 카포시육종의 방사선치료를 위한 물볼루스 기구의 유용성 고찰)

  • Ahn, Seung-Kwon;Kim, Yong-Bae;Lee, Ik-Jae;Song, Tae-Soo;Son, Dong-Min;Jang, Yung-Jae;Cho, Jung-Hee;Kim, Joo-Ho;Kim, Dong-Wook;Cho, Jae-Ho;Suh, Chang-Ok
    • Radiation Oncology Journal
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    • v.26 no.3
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    • pp.189-194
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    • 2008
  • Purpose: We designed a water-based bolus device for radiation therapy in Kaposi's sarcoma. This study evaluated the usefulness of this new device and compared it with the currently used rice-based bolus. Materials and Methods: We fashioned a polystyrene box and cut a hole in order to insert patient's extremities while the patient was in the supine position. We used a vacuum-vinyl based polymer to reduce water leakage. Next, we eliminated air using a vacuum pump and a vacuum valve to reduce the air gap between the water and extremities in the vacuum-vinyl box. We performed CT scans to evaluate the density difference of the fabricated water-based bolus device when the device in which the rice-based bolus was placed directly, the rice-based bolus with polymer-vinyl packed rice, and the water were all put in. We analyzed the density change with the air gap volume using a planning system. In addition, we measured the homogeneity and dose in the low-extremities phantom, attached to six TLD, and wrapped film exposed in parallel-opposite fields with the LINAC under the same conditions as the set-up of the CT-simulator. Results: The density value of the rice-based bolus with the rice put in directly was 14% lower than that of the water-based bolus. Moreover, the value of the other experiments in the rice-based bolus with the polymer-vinyl packed rice showed an 18% reduction in density. The analysis of the EDR2 film revealed that the water-based bolus shows a more homogeneous dose plan, which was superior by $4{\sim}4.4%$ to the rice-base bolus. The mean TLD readings of the rice-based bolus, with the rice put directly into the polystyrene box had a 3.4% higher density value. Moreover, the density value in the case of the rice-based bolus with polymer-vinyl packed rice had a 4.3% higher reading compared to the water-based bolus. Conclusion: Our custom-made water-based bolus device increases the accuracy of the set-up by confirming the treatment field. It also improves the accuracy of the therapy owing to the reduction of the air gap using a vacuum pump and a vacuum valve. This set-up represents a promising alternative device for delivering a homogenous dose to the target volume.

The effect of growth hormone treatment in short children born small for their gestational ages (만삭 부당경량아로 출생한 저신장증 환아에서의 성장호르몬 치료 효과)

  • Seo, Joo Hee;Kim, Duk Hee
    • Clinical and Experimental Pediatrics
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    • v.49 no.3
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    • pp.312-316
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    • 2006
  • Purpose : Growth hormone(GH) has been recognized as an effective treatment for short children born small for their gestational ages(SGA), and nowadays it has been widely used for the treatment of short children born SGA. The aim of this study is to assess the efficacy of GH treatment for the children born SGA. Methods : The study population was made of 40 short children born SGA with GH-treated(n=26) and untreated control group(n=14). In order to evaluate the effect of GH treatment, the changes in standard deviation scores(SDS) of the GH-treated group were compared to the changes in SDS before and after treatment from the control group in the same period. Results : There were no differences between the GH-treated group and the control group in gestational age, birth weight, chronological age, target height and the period of follow-up observation; however, the GH-treated group had lower height SDS($-3.3{\pm}0.9$) than the control group($-2.4{\pm}0.4$) before treatment(P<0.05). The GH-treated group had gained $1.2{\pm}1.0$ height SDS during GH treatment while the control group had gained $0.5{\pm}0.6$ height SDS. In the GH treatment group, HDL-cholesterol increased from $48.5{\pm}9.9mg/dL$ to $56.1{\pm}8.7mg/dL$(P<0.05) and LDL-cholesterol decreased from $88.1{\pm}23.3mg/dL$ to $76.4{\pm}19.4mg/dL$(P<0.05) after treatment. There were no changes in total cholesterol, triglyceride, free fatty acid and fasting blood sugar. IGF-I increased from $224.9{\pm}191.3{\mu}g/L$ to $443.2{\pm}152.5{\mu}g/L$(P<0.05) and IGFBP-3 also increased from $3.7{\pm}1.3mg/L$ to $5.6{\pm}1.2mg/L$(P<0.05). Conclusion : We conclude that growth hormone treatment is effective in the treatment of short children born SGA.

Immunogenicity and Safety of a Combined Hepatitis B and Haemophilus influenzae Type b Conjugate(PRP-OMP) Vaccine(ComvaxTM; Merck & Co.) in Korean Infants (한국 영아에서 B형 간염과 PRP-OMP의 혼합백신(ComvaxTM; MSD사)의 면역원성 및 안전성)

  • Chung, Eun Hee;Ma, Sang Hyuck;Hong, Young Jin;Kim, Kyung Hyo;Kim, Jong-Hyun;Lee, Jin A;Lee, Hoan Jong
    • Pediatric Infection and Vaccine
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    • v.13 no.2
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    • pp.163-173
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    • 2006
  • Purpose : To reduce the number of injections necessary to vaccinate young infants, various combined vaccines have been developed. The $Comvax^{TM}$ manufactured by Merck & Co. is a combination of Hepatitis B and PRP-OMP conjugate Haemophilus influenzae Type b vaccine. The purpose of this study is to evaluate the immunogenicity and safety of $Comvax^{TM}$ in Korean infants. Methods : The infants who were vaccinated at 0 months of age with Hepatitis B vaccine, were recruited for this study after parental informed consent was obtained. The subjects were vaccinated with $Comvax^{TM}$ at 2 and 4 months of age. At each visit, infants were also immunized with DTaP, inactivated poliovirus vaccine, and pneumococcal vaccine when indicated. The serum anti-PRP and anti-HBs were measured at 2 months after the 1st dose(4 months age), and the 2nd dose(6 months age) by the ELISA and chemiluminescent microparticle immunoassay method, respectively. The local and systemic adverse reactions of vaccination were monitored for 3 consecutive days after each immunization. Results : Among sixty-five healthy infants(35 male infants) enrolled in this study; fifty eight(32 male infants) completed the scheduled immunizations. The geometric mean titers (GMTs) of anti-PRP at 2 months after the 1st dose and the 2nd dose were 1.96 ${\mu}g/mL$ (95% CI; 1.38~2.78) and 10.02 ${\mu}g/mL$ (95% CI; 7.04~14.26), respectively. Anti-PRP ${\geq}1.0$ ${\mu}g/mL$, was obtained in 63.2%(95% CI; 53.75~72.65) after 1 dose, and 96.6%(95% CI; 93.05~100) after 2 doses. The GMTs of anti-HBs were 38.32 mIU/mL(95% CI; 22.42~65.51), and 101.17 mIU/mL(95% CI; 65.94~155.25) at 2 month after the 1st dose and 2nd dose of $Comvax^{TM}$, respectively. Anti-HBs ${\geq}10$ mIU/mL was observed in 73.7%(95% CI; 65.07~82.33) after 1 dose and 94.8%(95% CI; 90.45~99.15) after 2 doses. Most of the adverse reactions after vaccination were mild. Irritability, the most common systemic reaction, was observed in 24.8%, followed by drowsiness(19.2%), poor feeding(19.2%) and fever(7.2%). Among the local reactions tenderness was observed in 25.6%, redness(${\geq}5$ mm) in 19.2% and swelling(${\geq}5$ mm) in 4.8%. Conclusion : The $Comvax^{TM}$ vaccine was highly immunogenic for PRP and safe in Korean infants. Although the hepatitis B vaccine component was administered at 0, 2, 4 months, this study showed good immunogenicity against HBsAg.

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Effect of Dexamethasone on Gene Expression of Surfactant Protein B and Surfactant Protein C (스테로이드제가 백서 폐의 Surfactant B와 C 유전자 발현에 미치는 영향)

  • Park, Ik Soo;Sohn, Jang Won;Yoon, Ho Joo;Shin, Dong Ho;Park, Sung Soo
    • Tuberculosis and Respiratory Diseases
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    • v.54 no.4
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    • pp.439-448
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    • 2003
  • Background : Surfactant protein B(SP-B) and surfactant protein C(SP-C) are important in accelerating surface spreading of surfactant phospholipid. The glucocorticoids accelerate the morphologic differentiation of epithelial cells into type II cells and increase the rate of phosphatidylcholine synthesis. The hydrophobic surfactant protein has been shown to be upregulated by glucocorticoids in vitro, however, its regulation in vivo is not well established. Methods : The authors investigated the effects of glucocorticoid on the accumulation of mRNA encoding SP-B and SP-C protein content of the lung. Adult rats were given different doses of subcutaneous dexamethasone and sacrificed at 24 hours and 1 week. SP-B and SP-C mRNA were measured by a filter hybridization method. Results : 1) The accumulation of SP-B mRNA at 24 hours after 0.2 mg/kg dexamethasone treatment was increased by 23.7%. 2) The accumulation of SP-B mRNA at 1 week after 2 mg/kg dexamethasone treatment was significantly increased by 96.6%(P<0.001). 3) The accumulation of SP-C mRNA at 24 hours after 0.2 mg/kg dexamethasone treatment was significantly increased by 42.7%(P<0.01). 4) The accumulation of SP-C mRNA at 1 week after 2 mg/kg dexamethasone treatment was significantly increased by 60.0% (P<0.01). Conclusion : The authors concluded that dexamethasone treatment in vivo resulted in increased levels of SP-B mRNA and SP-C mRNA. These results suggested that dexamethasone stimulates the synthesis of hydrophobic proteins associated with surfactant.

Evaluation of Serum Insulin-Like Growth Factor(IGF)-I, Insulin-Like Growth Factor Binding Protein(IGFBP)-2 and IGFBP-3 Levels in Healthy Korean Children (정상 어린이에서 혈청 인슐린양 성장인자-I과 인슐린양 성장인자 결합단백-2 및 -3의 농도 분석)

  • Yang, Gi Hoon;Jung, Hye Lim;Kim, Deok Soo;Shim, Jae Won;Shim, Jung Yeon;Park, Moon Soo
    • Clinical and Experimental Pediatrics
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    • v.48 no.3
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    • pp.298-305
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    • 2005
  • Purpose : We performed this study to evaluate the mean serum levels of insulin-like growth factor (IGF)-I, insulin-like growth factor binding protein(IGFBP)-2 and IGFBP-3 in healthy Korean children according to age and sex. Methods : Ninety two healthy children, consisting of 42 boys and 50 girls, were classified into five groups according to age : neonate; infancy; early childhood; late childhood; and adolescence. We measured serum levels of IGF-I, IGFBP-2 and IGFBP-3 by enzyme-linked immunosorbent assay(ELISA) and analysed the serum levels according to sex and age group. Results : For boys, the mean serum levels of IGF-I(ng/mL) in neonate, infancy, early childhood, late childhood and adolescence were $41.1{\pm}3.6$, $70.9{\pm}33.7$, $103.5{\pm}97.2$, $89.8{\pm}46.5$ and $51.4{\pm}27.8$, respectively. Those of IGFBP-2(ng/mL) were $8.2{\pm}3.4$, $5.8{\pm}0.4$, $9.3{\pm}4.0$, $9.5{\pm}1.1$ and $7.0{\pm}0.5$, respectively. Those of IGFBP-3(ng/mL) were $559.2{\pm}215.2$, $1,333.3{\pm}692.5$, $2,254.6{\pm}1,513.8$, $2,447.1{\pm}1,464.2$, $1,533.6{\pm}807.4$, respectively. For girls, the mean serum levels of IGF-I(ng/mL) according to five age groups were $53.3{\pm}9.5$, $99.3{\pm}45.8$, $69.6{\pm}51.1$, $106.2{\pm}67.0$ and $145.1{\pm}127.8$, respectively. Those of IGFBP-2 (ng/mL) were $9.1{\pm}7.4$, $5.3{\pm}0.9$, $6.9{\pm}2.0$, $10.5{\pm}3.0$ and $7.9{\pm}1.3$, respectively. Those of IGFBP-3(ng/mL) were $858.2{\pm}433.4$, $1,834.8{\pm}851.3$, $1,404.3{\pm}570.2$, $2,203.5{\pm}899.4$ and $2,029.3{\pm}1,316.7$, respectively. There were significant positive correlations observed between IGF-I and IGFBP-3 levels(r=0.589, P=0.000). Conclusion : IGF-I and IGFBP-3 levels increased as children get older. The peak level of IGFBP-3 was observed in late childhood for both boys and girls, suggesting a current trend of children reaching peak growth velocity before adolescence. The IGFBP-2 level was higher in neonates compare to infancy, suggesting that IGFBP-2 is an important substance for fetal growth.