• Title/Summary/Keyword: Screening

Search Result 8,967, Processing Time 0.045 seconds

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
    • /
    • v.4 no.1
    • /
    • pp.64-71
    • /
    • 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.

  • PDF

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
    • /
    • v.4 no.1
    • /
    • pp.45-52
    • /
    • 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.

  • PDF

Comparative Evaluation of 25-OH-VitD and 25-OH-VitD3 by Radioimmunoassay (방사면역 측정법에 의한 25-OH-VitD와 25-OH-VitD3의 비교 평가)

  • Lee, Young-ji;Park, Ji-hye;Lim, Soo-yeon;Cheon, Jun-hong;Lee, Sun-ho
    • The Korean Journal of Nuclear Medicine Technology
    • /
    • v.24 no.1
    • /
    • pp.33-38
    • /
    • 2020
  • Purpose Vitamin D is essential for maintaining bone health, controling cell proliferation or differentiation, strengthening immune function by controlling calcium metabolism in the body. Vitamin D deficiency can lead to increase the risk of rickets, osteoporosis, cardiovascular disease, diabetes and cancer. Especially, South Korea is one of the highest population proportion of vitamin D deficiency. Accurate determination of levels of 25-OH-VitD or 25-OH-VitD3 in blood serum is required for the diagnosis and treatment of vitamin D deficiency. In this study, radioimmunoassay of 25-OH-VitD and 25-OH-VitD3 was performed and compared to evaluate the effectiveness of Vitamin D radioimmunoassay. Materials and Methods Serum 25-OH-VitD and 25-OH-VitD3 levels were measured using radioimmunoassay. The interrelationship, reproducibility and population distribution rate were evaluated. In addition, the internal quality control was performed at Asan Medical Center from April 2017 to June 2019 and the result of external quality control (Interagency proficiency evaluation) of first and second half of 2018 hosted by the Korean Society of Nuclear Medicine Technology (KSNMT). Both tests were measured by same manufacturer's reagent. Results 25-OH-VitD showed a strong positive correlation on 97 samples, as 25-OH-VitD3 x 0.9 + 0.3 (R>0.9). In repeated measurement, the average Diff(%) value of the reproducibility evaluation of 25-OH-VitD and 25-OH-VitD3 were 7.7% and 7.4%, respectively. Population distribution results showed no statistically significant differences(p>0.05). The resultant value of internal quality control, which measured from April, 2017 to June 2019 in Blood test room of Nuclear Medicine at Asan Medical Center, showed average (CV%) 6.2% and 6.8%, respectively. As a result of the external quality control (interagency proficiency evaluation) Z value obtained under 2.0, as shown below; Conclusion The interrelationship, reproducibility, population distribution rate, internal quality control and external quality control between 25-OH-VitD and 25-OH-VitD3 radioimmunoassay shows superior outcome. Radioimmunoassay, which can be alone measured in the blood as 25-OH-VitD or 25-OH-VitD3, is considered suitable screening tests for the diagnosis of vitamin D deficiency.

Genotype Frequency of Human Papillomavirus Determined by PCR and DNA Sequencing in Korean Women

  • Lee, Kyung-Ok;Seong, Hye-Soon;Chung, Soo-Jin;Jung, Na-Young;Lee, Hye-Jung;Kim, Kyung-Tae
    • Korean Journal of Clinical Laboratory Science
    • /
    • v.38 no.2
    • /
    • pp.99-104
    • /
    • 2006
  • Human Papilloma viruses (HPVs) are etiological agents for cervical cancer and are classified into low- and high-risk categories. The aim of this study was to determine the frequency of the HPV genotype in the HPV screening test of Korean women using PCR-direct sequencing. Consensus primers of L1 legion were used for the amplification of HPV DNA and the PCR products (450 bps) obtained were analyzed by automatic sequencing. Sequences were compared with those in GenBank by using the BLAST program. Cervical swab samples of 3,978 women (20-73 years) were tested and the average age was 37.6 years. In this study, 1,174 samples were HPV positive out of 3,978 cervical swab samples screened (29.5%) and 136 samples (11.6%) showed a double infection. A total of 1,310 HPV genotypes were analyzed. The HPV positive rate was the lowest in the 20 years group (69.5%) and most of the samples of the > 60 years group were found HPV positive. Among thirty seven different HPV types identified by sequencing, 21 were HPV high risk types and 16 HPV low risk types were 69.8% (914/1,310) and 26.0% (340/1,310), respectively. In HPV high-risk types, 16 (13.21%), was the most frequently found. HPV 53 (9.62%) and 58 (9.24%) were also frequently found. This group was followed by HPV types 70 (5.50%), 33 (4.73%), 66 (4.20%), 18 (4.05%), 52 (4.05%), 31 (3.97%) and 56 (3.51%) in descending order of frequency. Among HPV low-risk types, 62 (4.20%), 6 (3.59%), 81 (3.59%), 84 (3.51%), and 11 (2.6%) were frequently found. In conclusion, PCR-direct sequencing could be used for quick and reliable typing of known and novel HPVs from clinical specimens. This data could be useful for epidemiological study of HPV and it also allows type-specific follow-up of women who have been treated for cervical intraepithelial neoplasia.

  • PDF

A Study on the Characteristics of Chuibyong(翠屛: a Sort of Trellis) in Paintings of Late Joseon Dynasty (조선 후기 회화작품에 나타난 취병(翠屛)의 특성)

  • Jung, Woo-Jin;Sim, Woo-Kyung
    • Journal of the Korean Institute of Traditional Landscape Architecture
    • /
    • v.31 no.4
    • /
    • pp.1-21
    • /
    • 2013
  • This study has researched the characteristics and elements of the chuibyong, a sort of trellis in the Joseon Dynasty through the old pictorial data. The results were as follows; First, as a result of the analysis for the 25 pictorial data in the Joseon Dynasty, the chuibyongs have usually functioned as screening the facility to protect the private life and dividing the spaces of the site, but it was internally regarded as the props which symbolized the dignity and elegance of high class. Especially, not only the faunas such as crane and deer, and the floras such as Pinus densiflora, Musa basjoo, bamboo species and Paulownia coreana, but also various garden elements including oddly shaped stone, pond and pavilion were shown in the surrounding area of the chuibyong, and they were considered as a series of combination that was needed in the ideal garden for the literati. Secondly, the chuibyong was recognized as the ideological object which was typical of the literati culture in the story derived from an ancient event of China. Such image has been reflected intactly in the garden culture, and the chuibyong has been used(considered) as the important scenery of the season to imitate and reenact the Chinese Classical Garden in the narrative painting. Thirdly, in terms of the shape and function, the chuibyong in the paintings in the Joseon Dynasty basically had the function of the shielding and spatial division. Fourthly, the height of the chuibyung was similar to the one of fence which exceeds the person's height or Youngbyek(影壁) which is installed in the front and the rear of the main gate in China, and the various shape's chuibyung was properly set up in many spaces. Lastly, the making of the chuibyong in Joseon Dynasty was related to the trend of the writer's culture which was popular nationally in Ming dynasty rather than the particular functions or the location conditions. Especially, the symbol expression of the chuibyong showed on 'Elegant Gathering in the Western Garden' which was brought from China was recreated in the mansion of the upper class in Hanyang city as the center, and the primary mode for the expression of the wealth and writer's spirit through the chuibyong was transformed into the high-quality's garden element which could be created in the royal palace or the mansion of the upper class. Also, the use of the chuibyung was changed by spreading into the residential style for common people after the mid-nineteenth century, and it means that the chuibyung was developed into Korean styles.

Comparison of PANA RealTyper HPV Kit with AdvanSure HPV GenoBlot Assay for Human Papillomavirus Genotyping (인유두종바이러스 유전자형 검사법 PANA RealTyper HPV Kit와 AdvanSure HPV GenoBlot Assay의 비교)

  • Kim, Yi Hyeon;Chung, Hae-Sun;Lee, Miae
    • Annals of Clinical Microbiology
    • /
    • v.21 no.4
    • /
    • pp.86-91
    • /
    • 2018
  • Background: The PANA RealTyper HPV kit (PANAGENE, Korea; PANA RealTyper) was developed to genotype human papillomavirus (HPV) and was based on multiplex real-time PCR amplification and melting curve analysis. In this study, we compared PANA RealTyper to the AdvanSure HPV GenoBlot assay (LG Life Sciences, Korea; AdvanSure assay) and attempted to evaluate the performance of PANA RealTyper. Methods: A total of 60 cervical specimens were collected from women undergoing routine cervical cancer screening. The AdvanSure assay and PANA RealTyper kit identified the same 20 high-risk genotypes. However, the AdvanSure assay identified 15 low-risk genotypes, while the PANA RealTyper kit identified only 2 but detected 18 low-risk genotypes. Results: Among the total 60 specimens, 54 high-risk genotypes (40 specimens) and 20 low-risk genotypes (18 specimens) were detected. The agreement rates of the assays ranged from 94.4 to 100% for high-risk genotypes. Among 9 genotypes that were positive in the PANA RealTyper kit but negative in the AdvanSure assay, 7 were confirmed as true positive (HPV genotypes 16 (n=1), 39 (n=1), 52 (n=1), 58 (n=2), 68 (n=2)). Among 4 genotypes that were negative in the PANA RealTyper kit but positive in the AdvanSure assay, 3 were confirmed as HPV genotype 59. Among the 19 low-risk genotypes positive in the AdvanSure assay, there were 2 cases of HPV 6 and 1 case of HPV 11. In comparison, only 1 positive case of HPV 6 was determined by the PANA RealTyper kit. Conclusion: The PANA RealTyper kit was comparable with the AdvanSure assay. The PANA RealTyper kit would be useful and suitable for HPV genotyping in the clinical laboratory.

A New Short Growth-Duration Rice Cultivar, "Keumo 3" (소득작물 전후작용 단기성 벼 품종 "금오3호")

  • Kang, Jong-Rae;Lee, Jong-Hee;Kwack, Do-Yeon;Lee, Jeom-Sik;Park, No-Bong;Ha, Woon-Gu;Park, Dong-Soo;Yeo, Un-Sang;Lim, Sang-Jong;Oh, Byeong-Geun
    • Korean Journal of Breeding Science
    • /
    • v.41 no.3
    • /
    • pp.292-298
    • /
    • 2009
  • A new rice cultivar "Keumo 3" was developed for adopting under double cropping system with after or before cash crop cultivation. It was selected from the cross-combination between YR17202 $F_2$/Shinkeumobyeo//YR15727-B-B-B-102. The parent, YR17202 $F_2$ individual plant, was used for tolerance to lodging, it derived from a cross between Nonganbyeo/Shinkeumobyeo. Nonganbyeo is well known to lodging tolerance cultivar, as well as biotic stress, because it was developed by crossing with Tongil type. And the YR15727-B-B-B-102 line used as another parent with short growth duration, likewise highly resistance to rice blast disease. The pedigree derived from the cross-combination YR17202 $F_2$/Shinkeumobyeo//YR15727-B-B-B-102 were generated to $F_7$, and a best line among them named as Milyang 201. After a series of yield trials, including local adaptability test conducted throughout the peninsular of Korea, Milyang 201 was registered with the name of "Keumo 3" in 2005. The cultivar belongs to a early maturing group and heads 4 days earlier than Keumobyeo, a standard cultivar. It has short culm, and less spikelet number per panicle than Keumobyeo. However, its milled rice yield grown under extremely late transplanting time, 10. July, over the 3 local sites for 2003-2005 years, averaged 4,48 MT/ha, which is 6% higher than the standard, Keumobyeo. "Keumo 3" has showed a durable resistance to leaf blast disease during fourteen blast nurseries screening covered from south to north in Korea for 2003-2007 years. And it was confirmed harbours pi-zt, a durable blast resistance gene. Moreover it was incompatible with 19 blast isolates under artificial inoculation, except one isolate, K1101. Additionally, "Keumo 3" exhibits resistance to $K_1$, $K_2$ and $K_3$ of bacterial blight pathogen, as well as strip virus disease resistance, and moderate resistance to dwarf virus disease. Consequently, the new rice cultivar "Keumo 3" would be well adopted where a bio stress makes a big problem annually.

A Low Irritant Liquid Cleanser Composition Developed by Multi-Screening Methods (다탐색(多探索)법을 통한 저자극성 액체 세정제 조성물 개발)

  • Kim Peter;Hyeon Ki-An;Chung Ji-Youn;Yoon Sam-Sook;Kang Han Chyul;Park Sun Hee;Ko King Il;Kim Ki Ho
    • Journal of the Society of Cosmetic Scientists of Korea
    • /
    • v.31 no.1 s.49
    • /
    • pp.51-58
    • /
    • 2005
  • Alkyl ethoxy sulfate type surfactants, widely used in commercial cleansers, are easily adsorbed to skin to often cause skin irritation and inflammation if not thoroughly rinsed nut. In order to replace or complement existing surfactants, we screened the existing surfactants through protein denaturation method, cell cytotoxicity assay and human IL-1$\alpha$ assay, etc. Fourteen surfactants have been chosen from among too irritant anionic, cationic and/or zwitter-ionic ones and investigated for cell cytotoxicity in human fibroblast cell lines using monolayer culture with the thirteen commercially available cleansers for sensitive skin. From these results, we selected 5 surfactants and 2 commercial cleansers (names not shown), such as sodium laureth sulfate (anionic), sodium cocoyl isethionate (anionic), sodium lauroamphoacetate (zwitter-ionic), and cocamidopropyl betaine (zwitter-ionic), alkyl polyglycoside (non-ionic). 20 formulations were made out of 5 surfactants and five of them were chosen through a protein denaturation method (lower than 3 M sodium dodecyl sulfate solution ($13.2\%$)), cell cytotoxicity and human patch test. These five selected formulations containing preservatives were compared to two selected commercial cleansers by cell cytotoxicity and human IL-1$\alpha$ ELISA assay using dermal equivalent. Finally, we selected the best formulation. To this formulation, fructan ($3\%$ or $5\%$) or/and portulaca extract ($3\%$ or $5\%$) well known for its anti-inflammatory and moisturizing effects were added and investigated for cell cytotoxicity using dermal equivalent. In cytotoxicity assay using dermal equivalent, two formulations containing $5\%$ fructan and $3\%$ or $5\%$ portulaca extract were less toxic than the others. In cytotoxicity assay and human IL-1$\alpha$ ELISA using 3D culture, the selected formulation containing $5\%$ fructan and $5\%$ portulaca extract showed better efficiency than those of the others and 2 commercial cleansers. As a result, we could develop a low irritant and safe liquid cleanser.

Isolation and Characterization of Elastase Inhibitor from Areca catechu (빈랑으로부터 Elastase 저해물질의 분리 및 특성조사)

  • 조중제;이건국;조병기;최정도
    • Journal of the Society of Cosmetic Scientists of Korea
    • /
    • v.26 no.1
    • /
    • pp.163-186
    • /
    • 2000
  • We have previously screened 150 medicinal plants on the inhibition of elastase and found a significant inhibitory effects of the extracts of Areca catechu L. on the aging and inflammation against the skin tissues. To isolate and identify the compounds having biological activity, we was further purified by each of the solvent fractions, silica gel column chromatography, preparative TLC and reversed-Phase HPLC. Peak in HPLC, which coincided with the inhibitory activity against elastase, was identified as Phenolic substance using various colorimetric methods, UV, and IR. $IC_{50}$/ values of phenolic substance purified from Areca catechu were 26.9 $\mu\textrm{g}$/$m\ell$ for porcine pancreatic elastase (PPE) and 60.8 $\mu\textrm{g}$/$m\ell$ for human neutrophil elastase (HNE). This Phenolic substance showed more potent activity than those of reference compounds, oleanolic acid (76.5 $\mu\textrm{g}$/$m\ell$ for PPE, 219.2 $\mu\textrm{g}$/$m\ell$ for HNE) and ursolic acid (31.0 $\mu\textrm{g}$/$m\ell$ for PPE, 118.6 $\mu\textrm{g}$/$m\ell$ for HNE). According to the Lineweaver-Burk Plots, the inhibition against both PPE and HNE by this phenolic substance was competitive with substrate. Phenolic substance from Areca catechu exhibited high free radical scavenging effect ($SC_{50}$/ : 6 $\mu\textrm{g}$/$m\ell$) and inhibited effectively hyaluronidase activity ($IC_{50}$/: 210 $\mu\textrm{g}$/$m\ell$). These results suggest that the Phenolic substance Purified from Areca catechu showed anti-aging effect by protecting connective tissue proteins.

  • PDF

In Vitro Cytotoxicity, Skin Regeneration, Anti-wrinkle, Whitening and In Vivo Skin Moisturizing Effects of Oncheongeum (온청음 물 추출물의 세포독성, 피부재생, 주름개선, 미백 및 보습 효과)

  • An, Tteul-E-Bom;Kim, Dong-Chul
    • The Journal of Korean Obstetrics and Gynecology
    • /
    • v.29 no.1
    • /
    • pp.14-34
    • /
    • 2016
  • Objectives: The objective of this study was to evaluate the effects of cytotoxicity, skin regeneration, anti-wrinkle, whitening and skin moisturizing of Oncheongeum (OCE).Methods: The cytotoxicity of OCE lyophilized aqueous extracts (yield=13.82%) was observed against human normal fibroblast cells and B16/F10 murine melanoma cells by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium Bromide (MTT) assay, and skin regeneration and anti-wrinkle effects were also evaluated through the assay of collagen type I synthesis compared to the transformation of the growth factor (TGF)-β1, hyaluronidase, collagenase and matrix metalloproteinase (MMP)-1 inhibitory assays compared to oleanolic acid (OA), and elastase inhibitory effects compared to phosphoramidon disodium salt (PP). In addition, OCE’s whitening effects were measured by a tyrosinase inhibitory assay and melanin formation test in B16/F10 murine melanoma cells compared to arbutin, and skin moisturizing effects were observed through a mouse skin water content test, respectively. Results: No OCE treatment-related cytotoxic effects appeared on human normal fibroblasts and B16/F10 murine melanoma cells. OCE concentration-dependently increased the collagen Type I synthesis on human normal fibroblast cells, and also effectively inhibited hyaluronidase, elastase, collagenase and MMP-1 activities. In addition, OCE inhibited melanin production of B16/F10 murine melanoma cells and activity of tyrosinase. And significant and dose-dependent increases of skin water content were detected in OCE-treated mouse skin compared to vehicle control skins. Conclusions: OCE showed favorable and sufficient effects in skin regeneration, anti-wrinkle, whitening and skin moisturizing in this experiment. But more detail mechanisms and studies on the skin protective efficiency of in vivo are needed with the screening of active biological compounds in individual OCE herbs.