• Title/Summary/Keyword: Genetic screening

검색결과 497건 처리시간 0.023초

보험업계(保險業界)의 과제(課題) (Future Medical Screening: A Challenge to the Insurance Industry)

  • 윤병학
    • 보험의학회지
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    • 제12권
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    • pp.50-55
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    • 1993
  • 1) 생명보험(生命保險)에서의 Screening은 사정조건(査定條件)이며 충분(充分)한 기능(機能)을 갖인 기구(器具)이다. 2) Screening 기술(技術)은 의학적(醫學的)으로 충분(充分)히 명시(明示)되여 있으며 장래(將來)에도 일반적(一般的)인 임상적(臨床的)인 Rule에 따라야 한다. 3) Screening Parameter는 연령(年齡)이나 Risk-Group에 의(依)한 질병(疾病)의 Pattern에 따라야 한다. 4) Screening Parameter에서의 예후(豫後)의 추론(推論)은 임상의학적관찰(臨床醫學的觀察)과 Rule를 모두 고처(考處)하는 한(限)에서는 합법적(合法的)이다. 5) 민감(敏感)한 성격(性格)의 Screening 기술(技術)은 일관성(一貫性)있게 취급(取扱)하기 의(依)해서는 대단(大端)히 특별(特別)한 Rule를 필요(必要)로 한다. 6) HIV-항체시험(抗體試驗)과 같은 Screening-Parameter는 그들의 새로운 시험범위내(試驗範圍內)에서는 계속적(繼續的)인 과학적(科學的) Feedback를 필요(必要)로 한다. 7) 유전의학적시험(遺傳醫學的試驗은 생명보험(生命保險) Screening에서는 아직 사용(使用)하고 있지 않지만 생명보험의학(生命保險醫學)에서는 장래(將來)의 역할(役割)과 가능성(可能性)에 대(對)해서 검토(檢討)해야 될 것이다. 8) 보험업계(保險業界)의 Screening은 가능한(可能限) 역선택(逆選擇)을 배제(排除)하고 보험청약자(保險請約者)나 보험자(保險者)의 쌍방(雙方)에서 평균여명(平均餘命)을 짧게하는 어떠한 결함(缺陷)에도 같은 지식(知識)으로 대비(對備)해야 한다. 9) Screening에서의 Informed Consent, Counselling과 Confidentiality는 현재나 더욱 발전된 장래에서도 알맞게 취급하지 않으면 않된다.

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Chorionic villus sampling

  • Shim, Soon-Sup
    • Journal of Genetic Medicine
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    • 제11권2호
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    • pp.43-48
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    • 2014
  • Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct method and the culture method. While the direct method may prevent maternal cell contamination, the culture method may be more representative of the true fetal karyotype. There is a concern for mosaicism which occurs in approximately 1% of cases, and mosaic results require genetic counseling and follow-up amniocentesis or fetal blood sampling. In terms of complications, procedure-related pregnancy loss rates may be the same as those for amniocentesis when undertaken in experienced centers. When the procedure is performed after 9 weeks gestation, the risk of limb reduction is not greater than the risk in the general population. At present, chorionic villus sampling is the gold standard method for early fetal karyotyping; however, we anticipate that improvements in noninvasive prenatal testing methods, such as cell free fetal DNA testing, will reduce the need for invasive procedures in the near future.

에탄올 생성능과 생존능이 우수한 효모균주의 분리와 동정 (Isolation and Indentification of Yeast Strains Producing High Concentration of Ethanol with High Viabi-lity.)

  • 강태영;오귀환;김근
    • 한국미생물·생명공학회지
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    • 제28권6호
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    • pp.309-315
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    • 2000
  • To isolate yeast strains producing high concentration of ethanol, 125 strains were subjected to screening. Initially 14 strains able to grow in a medium containing 15%(v/v) ethanol, 7 strains capable of growing in a medium containing 50%(v/v) glucose, 23 strains having relatively fast fermentation rates, 13 strains able to grow at $42^{\circ}C$ were selected. After secondary screening, 11 strains having relatively high ini-tial fermentation rate and producing high concentration of ethanol were selected. After tertiary screening 5 strains producing high concentration of ethanol were selected. These 5 strains were again for their ethanol produc-tion, residual sugar, and viability using fermentation medium containing 25% glucose. The strain producing the highest concentration of ethanol was 20-1 strain which produced 10.56%(v/v) ethanol in 4 days, and the highest viable strain was 11-1 which produced 10.35%(v/v) ethanol(13.1%. v/v) with the viability of 30.44% after 5 days of fermentation. Both of the 20-1 and 11-1 strains were identified as Saccharomyces cerevisiae.

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Identification of High Affinity Non-Peptidic Small Molecule Inhibitors of MDM2-p53 Interactions through Structure-Based Virtual Screening Strategies

  • Bandaru, Srinivas;Ponnala, Deepika;Lakkaraju, Chandana;Bhukya, Chaitanya Kumar;Shaheen, Uzma;Nayarisseri, Anuraj
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권9호
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    • pp.3759-3765
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    • 2015
  • Background: Approaches in disruption of MDM2-p53 interactions have now emerged as an important therapeutic strategy in resurrecting wild type p53 functional status. The present study highlights virtual screening strategies in identification of high affinity small molecule non-peptidic inhibitors. Nutlin3A and RG7112 belonging to compound class of Cis-imidazoline, MI219 of Spiro-oxindole class and Benzodiazepine derived TDP 665759 served as query small molecules for similarity search with a threshold of 95%. The query molecules and the similar molecules corresponding to each query were docked at the transactivation binding cleft of MDM2 protein. Aided by MolDock algorithm, high affinity compound against MDM2 was retrieved. Patch Dock supervised Protein-Protein interactions were established between MDM2 and ligand (query and similar) bound and free states of p53. Compounds with PubCid 68870345, 77819398, 71132874, and 11952782 respectively structurally similar to Nutlin3A, RG7112, Mi219 and TDP 665759 demonstrated higher affinity to MDM2 in comparison to their parent compounds. Evident from the protein-protein interaction studies, all the similar compounds except for 77819398 (similar to RG 7112) showed appreciable inhibitory potential. Of particular relevance, compound 68870345 akin to Nutlin 3A had highest inhibitory potential that respectively showed 1.3, 1.2, 1.16 and 1.26 folds higher inhibitory potential than Nutilin 3A, MI 219, RG 7112 and TDP 1665759. Compound 68870345 was further mapped for structure based pharamacophoric features. In the study, we report Cis-imidazoline derivative compound; Pubcid: 68870345 to have highest inhibitory potential in blocking MDM2-p53 interactions hitherto discovered.

산전 검진의 최신 지견 (The recent trend of prenatal screening)

  • 황도영
    • Journal of Genetic Medicine
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    • 제5권1호
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    • pp.7-14
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    • 2008
  • Twenty years have passed since a prenatal screening for Down syndrome and neural tube defect was applied to obstetric field. The Quad test (AFP, hCG, uE3, Inhibin-A) of the second trimester and the combination test (PAPP-A, hCG, NT) of the first trimester became popular now. The recent trend of prenatal screening is to combine these two screening tests together in order to increase a detection rate of Down syndrome. Three types of screening methods are introduced as follows; integrated test, sequential test and contingent test. In addition to combination of each test, an incorporation of characteristic ultrasound findings of Down syndrome is suggested for its risk calculation. The absence of fetal nasal bone would be a very useful marker especially in the first trimester screening test. According to a change of way calculating risk of Down syndrome, obstetrician's role will be more increased not by passive participation, but by active participation using ultrasound in risk calculation.

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The Simple and Rough Screening Method of Phosphorus Deficient Tolerance Rice

  • Hwang, Woon-Ha;Kim, Dae-Wook;Jeong, Jae-Heok;Jeong, Han-Yong;Lee, Hyen-Seok;Choi, Kyung-Jin;Lee, Gun-Hwi;Lee, In-Jung;Oh, Sung-Hwan
    • 한국작물학회지
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    • 제60권4호
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    • pp.412-420
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    • 2015
  • Even though phosphorus (P) is essential element for plant growth and development, it is not enough for crop production in soil. To breed more P deficient tolerance rice, screening and selection in rice population is needed. We tried to develop more simple and rough screening method for breeding of P deficient tolerance rice. In P deficient condition, tiller number was dramatically decreased among yield components in rice. Though this result, we confirmed tiller number could be the best marker in screening of P deficient tolerance rice. 480 rice genetic resources were cultivated in rice bed tray filled with P deficient soil for four weeks and each dry weight was measured. Among them, the 55 kinds of genetic resource were selected then cultivated in paddy field with 3 fertilizer conditions. Plant dry weight and tiller number in ripening stage were shown significant difference according to P condition. Plant dry weight and tiller number in ripening stage was highly correlated especially in P deficient condition. Furthermore, the tiller number in ripening stage and plant dry weight in rough screening were shown high degree correlation. Though these results, we might expect measuring of plant dry weight after cultivation in rice bed tray filled with P deficient soil could be a simple and effective screening method in selection of P deficient tolerance rice.

Screening of BCL-2 associated X protein gene polymorphism associated with scrotal hernia in domesticated swine using polymerase chain reaction-restriction fragment length polymorphism

  • Manalaysay, Jessica G.;Antonio, Nathaniel D.;Apilado, Ralph Lorenz R.;Bambico, Joseph F.;Mingala, Claro N.
    • Asian-Australasian Journal of Animal Sciences
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    • 제30권2호
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    • pp.262-266
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    • 2017
  • Objective: This study was conducted to screen scrotal hernia in domesticated swine from selected breeders in the Philippines. This defect is associated with a cytosine to thymine mutation in the BCL-2 associated X protein (BAX) gene of swine. Methods: Genetic screening was done by DNA extraction followed by amplification and digestion using polymerase chain reaction-restriction fragment length polymorphism, amplifying the 416 bp region of the BAX gene that was subjected to digestion using the Ear I enzyme. Sequencing was also conducted to validate the results. Results: Results revealed that out of 538 samples tested, 411 (76.4%) of the samples were found to be normal whereas the remaining were carriers of the mutation in which 80 (14.9%) were heterozygous mutants and 47 (8.7%) were homozygous mutants. Pietrain breed was found to have the highest incidence. Conclusion: Having a scrotal hernia eliminates the chances of using the boar as a breeder stock because the following generations arising from it would most likely exhibit herniation. It is therefore advised to establish a genetic screening method for Scrotal Hernia in the Philippines to eliminate the negative gene from the herd.

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

  • An, Se Jin;Kim, Sook Za;Kim, Gu Hwan;Yoo, Han Wook;Lim, Han Hyuk
    • Clinical and Experimental Pediatrics
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    • 제59권sup1호
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    • pp.45-48
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    • 2016
  • Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid ${\beta}$-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of $2.25{\mu}mol/L$ (normal, < $0.99{\mu}mol/L$). Urinary excretion of ethylmalonic acid was also elevated, as detected by urine organic acid analysis. To confirm the diagnosis of SCADD, direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Subsequent sequence analysis revealed compound heterozygous missense mutations c.164C>T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.

Screening of novel alkaloid inhibitors for vascular endothelial growth factor in cancer cells: an integrated computational approach

  • Shahik, Shah Md.;Salauddin, Asma;Hossain, Md. Shakhawat;Noyon, Sajjad Hossain;Moin, Abu Tayab;Mizan, Shagufta;Raza, Md. Thosif
    • Genomics & Informatics
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    • 제19권1호
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    • pp.6.1-6.10
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    • 2021
  • Vascular endothelial growth factor (VEGF) is expressed at elevated levels by most cancer cells, which can stimulate vascular endothelial cell growth, survival, proliferation as well as trigger angiogenesis modulated by VEGF and VEGFR (a tyrosine kinase receptor) signaling. The angiogenic effects of the VEGF family are thought to be primarily mediated through the interaction of VEGF with VEGFR-2. Targeting this signaling molecule and its receptor is a novel approach for blocking angiogenesis. In recent years virtual high throughput screening has emerged as a widely accepted powerful technique in the identification of novel and diverse leads. The high resolution X-ray structure of VEGF has paved the way to introduce new small molecular inhibitors by structure-based virtual screening. In this study using different alkaloid molecules as potential novel inhibitors of VEGF, we proposed three alkaloid candidates for inhibiting VEGF and VEGFR mediated angiogenesis. As these three alkaloid compounds exhibited high scoring functions, which also highlights their high binding ability, it is evident that these alkaloids can be taken to further drug development pipelines for use as novel lead compounds to design new and effective drugs against cancer.