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Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization : Clinical experience with 309 cases (FISH를 이용한 다운증후군과 에드워드증후군의 신속한 산전확인 : 309예의 임상적 고찰)

  • Kang, Jin-Hee;Lee, Sook-Hwan;Park, Sang-Hee;Park, Ji-Hyun;Kim, Ji-Youn;Han, Won-Bo;Kim, In-Hyun;Park, Sang-Won;Jang, Jin-Beum;Lee, Kyoung-Jin;Park, Hee-Jin;Jun, Hye-Sun;Lee, Kyung-Ju;Shin, Joong-Sik;Cha, Dong-Hyun
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.64-71
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    • 2007
  • Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

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Determination of plasma C16-C24 globotriaosylceramide (Gb3) isoforms by tandem mass spectrometry for diagnosis of Fabry disease (패브리병(Fabry) 진단을 위한 혈장 중 Globotriaosylceramide (Gb3)의 탠덤매스 분석법 개발과 임상 응용)

  • Yoon, Hye-Ran;Cho, Kyung-Hee;Yoo, Han-Wook;Choi, Jin-Ho;Lee, Dong-Hwan;Zhang, Kate;Keutzer, Joan
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.45-52
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    • 2007
  • Purpose : A simple, rapid, and highly sensitive analytical method for Gb3 in plasma was developed without labor-ex tensive pre-treatment by electrospray ionization MS/ MS (ESI-MS/MS). Measurement of globotriaosy lceramide (Gb3, ceramide trihex oside) in plasma has clinical importance for monitoring after enzyme replacement therapy in Fabry disease patients. The disease is an X-linked lipid storage disorder that results from a deficiency of the enzyme ${\alpha}$-galactosidase A (${\alpha}$-Gal A). The lack of ${\alpha}$-Gal A causes an intracellular accumulation of glycosphingolipids, mainly Gb3. Methods : Only simple 50-fold dilution of plasma is necessary for the extraction and isolation of Gb3 in plasma. Gb3 in diluted plasma was dissolved in dioxane containing C17:0 Gb3 as an internal standard. After centrifugation it was directly injected and analyzed through guard column by in combination with multiple reaction monitoring mode of ESI-MS/MS. Results : Eight isoforms of Gb3 were completely resolved from plasma matrix. C16:0 Gb3 occupied 50% of total Gb3 as a major component in plasma. Linear relationship for Gb3 isoforms w as found in the range of 0.001-1.0 ${\mu}g$/mL. The limit of detection (S/N=3) was 0.001 ${\mu}g$/mL and limit of quantification was 0.01 ${\mu}g$/mL for C16:0 Gb3 with acceptable precision and accuracy. Correlation coefficient of calibration curves for 8 Gb3 isoforms ranged from 0.9678 to 0.9982. Conclusion : This quantitative method developed could be useful for rapid and sensitive 1st line Fabry disease screening, monitoring and/or diagnostic tool for Fabry disease.

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Food Habits of the Glass eel Anguilla japonica in the West Coast Estuaries of Korean Peninsula Determined by Using C and N Stable Isotopes (안정동위원소를 이용한 서해연안 실뱀장어의 먹이 습성)

  • Kim, Jeong Bae;Lee, Won-Chan;Kim, Dae-Jung;Seong, Ki Baik;Choi, Hee-Gu;Choi, Woo-Jeung;Hwang, Hak Bin;Hong, Sokjin;Kim, Hyung Chul;Park, Sung-Eun;Shim, Jeong Hee;Kang, Chang-Keun
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.18 no.4
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    • pp.206-213
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    • 2013
  • Glass eels (Anguilla japonica) are caught in the west coast of Korea on their migratory route from the breeding grounds in the Mariana Trench along the North Equatorial Current and the Kuroshio Current. To identify the food source of natural glass eels, we analyzed the stable C and N isotopes of glass eels caught in April 2012 and investigated possible food sources in the survey area. In particular, with respect to the stable C and N isotopes of particulate organic matter, we extended the surveying area to the northern parts of East China Sea as well as the west coast of Korea. The stable C and N isotope ratios of the glass eels caught in the west coast were found to be $-20.7{\pm}0.1$‰ and $5.0{\pm}0.2$‰, respectively. The stable C and N isotope ratios of the particulate organic matter in the west coast of Korea, in which the glass eels are assumed to eat the particulate organic matter as food source, were estimated to be $-24.0{\pm}0.3$‰ and $2.8{\pm}0.4$‰, respectively. Similar data were obtained from the northern part of the East China Sea, $-24.5{\pm}0.5$‰ and $0.8{\pm}0.3$‰. The stable isotope ratios showed values differing from the stepwise increasing rates up the food web in natural aquatic ecosystem, showing that particulate organic matter in the west coast of Korea and East China Sea was not served as the glass eels food source. This result suggested that the glass eels caught in the west coast might not assimilate nutrition from the marine environment during long migration.

Development of an Automatic Liquid Feeder for Early Weaned Piglets (조기이유 자돈용 액상사료 자동급이기 개발)

  • 유용희;정일병;안정대;이덕수;강희설;최희철;전병수;박홍석
    • Journal of Animal Environmental Science
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    • v.7 no.1
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    • pp.1-12
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    • 2001
  • This study was conducted to develope an automatic liquid feeder for early weaning piglets and to test the efficacy of the system. The liquid feeder consists of water heating and discharge unit, dry diet storing and discharge unit, mixing and discharge unit, mixed liquid feed-delivering unit, and the central control part which control each unit, feeding frequency and the amount of feeding. For investigating the possibility of practical use, a feeding trial was carried out using eighteen three way crossbred piglets weaned on 19 days of age for the experimental period of six weeks. Experimental diet was provided in liquid form using the automatic liquid feeder for the first three weeks and in dry form for the later three weeks. The water heating and discharge unit exactly supplied warm water by 27 $m\ell$/s, into the mixing unit. The dry diet storing and discharge unit supplied dry feed by 3.7g/s, into the mixing unit. Being compared with the standard growth rate suggested by NRC, average daily gain of the piglets during the first three weeks of liquid feeding was lower by 10%, while it was higher during three weeks of dry feeding and over the whole experimental period by 24 and 17%, respectively. Feed/gain was 1.09, 2.14 and 1.89 for the first 3 weeks, later 3 weeks, and whole period, respectively. Diarrhea was observed for three days from day 3 to day 7 after feeding liquid diet, but no pig died of it. In conclusion, a preliminary test for the newly developed an automatic liquid feeder using 19 days of age weaning piglets showed that the unit was successfully operated without any major problems. Piglets raised on a liquid diet through the unit developed grew less during the first three weeks, but their growth and feed intake were greatly improved thereafter, indicating the developed automatic liquid feeder may be practically used in swine industry.

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Pharmacokinetics of amoxicillin trihydrate in cultured eel Anguilla japonica by single oral and intravenous administrations (Amoxicillin trihydrate의 단독 경구투여 및 정맥투여에 따른 뱀장어, Anguilla japonica 체내 약물동태학적 특성)

  • Jeon, Eun-Ji;Seo, Jeong-Soo;Kim, Jin-Do;Jung, Sung-Hee;Kim, Myoung-Sug;Hwang, Jee-Youn;Park, Myoung-Ae;Jee, Bo-Young;Kim, Jin-Woo;Kim, Yi-Cheong
    • Journal of fish pathology
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    • v.23 no.3
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    • pp.357-367
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    • 2010
  • The pharmacokinetic properties of amoxicillin trihydrate (Amox) were studied after single oral administration and single intravenous injection to cultured eel, Anguilla japonica, respectively (average $220{\pm}10\;g$, $28{\pm}1^{\circ}C$). Plasma samples were taken at 3, 5, 10, 15, 24, 30, 48, 96 and 144 h post-dose. The kinetic profile of absorption, distribution and elimination of Amox in plasma were analyzed fitting to a two-compartment model by WinNonlin program. In oral dosage of 40 and 80 mg/kg body weight, the peak plasma concentrations of Amox, which attained at 3~12 h post-dose, were 3.4 and $3.3\;{\mu}g/ml$, respectively. In intravenous injection with 1 mg/kg, the peak plasma concentrations of Amox, which attained at 9 h post-dose, was $7.2\;{\mu}g/ml$. The following parmeters were calculated for a single oral dosage of 40 and 80 mg/kg body weight, respectively: AUC (the area under the concentration-time curve)= 464 and $667\;{\mu}g{\cdot}h/ml$; $T_{max}$ (time for maximum concentration)= 2.1 and 3.6 h; $C_{max}$ (maximum concentration)= 3.04 and $3.4\;{\mu}g/ml$. Following intravenous injection at 1 mg/kg, this parameters were AUC= $748\;{\mu}g{\cdot}h/ml$; $C_{max}=4.2\;{\mu}g/ml$. The apparent oral bioavailability at 40 and 80 mg/kg were 1.6 and 1.1%, respectively. Despite using the trihydrate form of amoxicillin, the oral bioavailability was low in eel.

Components and Their Antioxidative Activities of Methanol Extracts from Sarcocarp and Seed of Zizyphus jujuba var. inermis Rehder (생대추(풋대추) 과육 및 씨 추출물의 항산화 효과 및 항산화 성분)

  • Yu, Mi-Hee;Im, Hyo-Gwon;Lee, Hyo-Jung;Ji, Young-Ju;Lee, In-Seon
    • Korean Journal of Food Science and Technology
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    • v.38 no.1
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    • pp.128-134
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    • 2006
  • Antioxidant activities of methanol extracts from sarcocarp and seed of Zizyphus jujuba var. inermis Rehder were investigated in vitro. Contents of total polyphenols in methanol extracts from sarcocarp and seed were 98.83, $138.99\;{\mu}g/mg$, respectively. Radical-scavenging activities of methanol extracts were examined using ${\alpha},{\alpha}-diphenyl-{\beta}-picrylhydrazyl$ and 2,2'-azino-bis(3-ethylbenzthiazoline-6-sulfonic acid) radicals, and hydrogen peroxide assay. Inhibition effects of methanol extracts on peroxidation of linoleic acid were examined by ferric thiocyanate and thiobarbituric acid methods. Both sarcocarp and seed of Zizyphus jujuba var. inermis Rehder showed relatively high antioxidant activities in various systems.

Comparison of Antioxidant Activities of Enzymatic and Methanolic Extracts from Ecklonia cava Stem and Leave (감태(Ecklonia cava) 줄기 및 잎의 효소적 추출물과 메탄올 추출물에 의한 항산화 활성비교)

  • Lee, Seung-Hong;Kim, Kil-Nam;Cha, Seon-Heui;Ahn, Gin-Nae;Jeon, You-Jin
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.35 no.9
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    • pp.1139-1145
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    • 2006
  • In this study, antioxidant activities of enzymatic and methanolic extracts from E. cava stem and leave were evaluated by measuring the scavenging activities on 1,1 diphenyl 2 picrylhydrazyl (DPPH), hydroxyl radical, hydrogen peroxide and the inhibitory effects on DNA damage induced by oxidative stress of cells. Enzymatic extracts were prepared by enzymatic hydrolysis of both stem and leave using food grade five different carbohydrases (Viscozyme, Celluclast, AMG, Termamyl, Ultraflo) and five proteases (Protamex, Kojizyme, Neutrase, Flavourzyme, Alcalase). The enzymatic extracts were lower than methanolic extracts in polyphenol contents, but higher in extraction yield by approximately 30%. The enzymatic extracts were superior to methanolic extracts in DPPH and H2O2 scavenging activities and DNA damage protective effect. There were no significant antioxidant activity difference between stem and leave, but the extracts of leave were relatively better than those of stem. In this study it is suggested that E. cava stem as well as its leave would be a good raw materials for antioxidants compound extraction and enzymatic hydrolysis would be a good strategy to prepare antioxidant extracts from seaweeds.

Usefulness of Customized Cervical Spine Immobilizer in Head & Neck Image-Guided Radiation Therapy with Tomotherapy® (토모테라피를 이용한 두경부암 영상유도 방사선 치료 시 개인별 경추고정용구의 유용성 평가)

  • Jin, Sung Eun;Chang, Se Wuk;Choi, Jung Hoan;Kim, Min Joo;Ahn, Seung Kwon;Lee, Sang Kyu;Cho, Jung Heui
    • The Journal of Korean Society for Radiation Therapy
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    • v.30 no.1_2
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    • pp.65-71
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    • 2018
  • Purpose : Standardized pillow may not support patient's individual cervical spine thoroughly when head and neck radiation therapy with $Tomotherapy^{(R)}$. Therefore, the purpose of this study was to make a comparative analysis for the difference of using standardized pillow only and using customized cervical spine immobilizer with standardized pillow. Materials and Methos : The head and neck cancer patients who are treated image-guided radiation therapy(IGRT) with $Tomotherapy^{(R)}$ were divided into two groups, 20 patients using standardized pillow only, and 20 patients using customized cervical spine immobilizer with standardized pillow. We achieved 20 mega-voltage computed tomography(MVCT) image per patient, compared curvature of the cervical spine in MVCT with curvature of the cervical spine in CT-simulation. Results : Results of comparative analysis were curvature consistency 95.9 %, maximum error of distance 41.9 mm, average distance error per fractionation 19.4 mm, average standard deviation 1.34 mm in case of using standardized pillow only, curvature consistency 98.9 %, maximum error of distance 12.9 mm, average distance error per fractionation 5.8 mm, average standard deviation 0.59 mm in case of using customized cervical spine immobilizer with standardized pillow. Conclusion : Using customized cervical spine immobilizer shows higher reproducibility and low distance error, therefore customized cervical spine immobilizer could be useful for head and neck cancer patients who need radiation therapy.

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Analysis of Antioxidant Activity and Serotonin Derivatives in Safflower (Carthamus tinctorius L.) Germplasm Collected from Five Countries (국외 수집 홍화 유전자원의 항산화 활성 및 세로토닌 유도체 함량 분석)

  • Jung, Yi Jin;Assefa, Awraris Derbie;Lee, Jae Eun;Lee, Ho Sun;Rhee, Ju Hee;Sung, Jung Sook
    • Korean Journal of Plant Resources
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    • v.32 no.5
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    • pp.423-432
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    • 2019
  • In order to select potential plant resources as functional materials and natural antioxidants, we evaluated antioxidant activity and serotonin derivatives of safflower germplasm collected from five countries. N-(p-Coumaroyl) serotonin (CS) and N-feruloylserotonin (FS) were analyzed by using Ultra Performance Liquid Chromatography (UPLC). Total polyphenol content (TPC) was determined by Folin-Ciocalteu method and antioxidant activities were estimated by 2,2-diphenyl-1-picryl-hydrazil (DPPH), 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid) diammonium salt (ABTS), Ferric reducing antioxidant power (FRAP) and Reducing power (RP) assays. The TPC showed a range of 28.25 to $90.53{\mu}g$ gallic acid equivalent (GAE)/mg dried extract (DE). DPPH, ABTS, FRAP and RP assay were in the range of 18.76 to 93.98, 48.91 to 163.73, 3.80 to 132.29 and 26.32 to $80.08{\mu}g$ ascorbic acid equivalent (ASCE)/mg DE, respectively. Among the five countries, safflower seed collected from Iran had the highest levels of serotonin derivatives and antioxidant activities than other countries (p<0.05). CS showed high correlation with TPC, ABTS and DPPH (r=0.673,0.727,0.820), and FS showed high correlation with DPPH (r=0.740). Accessions IT321214 and IT321215 could be useful for development of new functional materials and could be used as a source of valuable natural antioxidant materials.

Effects of Topical Moisturizers on the Skin of Healthy Full-term Infants and Toddlers (국소 보습제 도포가 정상 영유아 피부에 미치는 영향에 관한 연구)

  • Hyun, Moo Yeol;Lee, Yonghee;Oh, Won Jong;Yoo, Kwang Ho;Park, Kui Young;Kim, Myeung Nam;Hong, Chang Kwun;Kim, Beom Joon
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.41 no.1
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    • pp.63-71
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    • 2015
  • Moisturizers are the most prescribed products in dermatology. Treatment with moisturizers aims to maintain skin integrity and overall well-being by providing a healthy appearance. Moisturizers perform very important functions in baby care; however, there are few studies on the effects of moisturizers on the skin of infants. To investigate the effects of moisturizers on the skin of healthy full-term infants and toddlers, thirty-one healthy, full-term, 6- to 36-month-old infants and toddlers without any dermatologic conditions received moisturizer applied to the whole body except the eyes and diaper area after bathing twice daily for 4 weeks. Clinical assessments were conducted before treatment, immediately after the treatment period, and 1 and 4 weeks after treatment. At all visits, skin hydration, transepidermal water loss (TEWL), skin pH, and skin roughness were measured, the skin surface was photographed, and any adverse events were recorded. After using moisturizer, skin hydration significantly increased and TEWL and roughness significantly decreased. The skin pH was modified to mildly acidic and the skin surface was visually smoother than before treatment. There were no statistical significant differences of effects of moisturizers according to age and sex, and adverse events were not observed. The results of moisturizer application on the skin were increased skin hydration, recovery of barrier function, balancing skin pH within a mildly acidic range, and increasing the smoothness of the skin surface for 4 weeks.