• The Journal of Korean Academic Society of Nursing Education
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• v.24 no.4
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• pp.463-477
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• 2018

Purpose: This study identifies correlations among information needs and knowledge about prenatal genetic screening and diagnosis (I-PGSD & K-PGSD), and attitude toward terminating pregnancy (ATP) among pregnant women in South Korea. Methods: A descriptive survey was conducted from January 2013 to April 2014 in South Korea. 222 pregnant women responded to three questionnaires developed by the authors. The questionnaire for I-PGSD consisted of 19 questions; 18 questions for K-PGSD; and 10 questions for ATP. Results: Mean scores were $80.46{\pm}11.73$ for I-PGSD; $14.86{\pm}3.74$ for K-PGSD; and $33.71{\pm}6.13$ for ATP. The ATP score was positively correlated with the I-PGSD and K-PGSD scores, but statistically significant with only I-PGSD (p=.006). I-PGSD scores were higher than average on three genetic syndromes (Down, Patau, and Edwards syndrome), on management after the diagnosis of positive fetal aneuploidy, and on test result interpretation after the amniocentesis and level II fetal ultrasonogram. Conclusions: In light of current legal and moral controversy regarding terminating pregnancy and rapidly advancing prenatal genetic testing technology, more prenatal genetic education for nurses and nursing students who teach pregnant women is needed. In addition, more professional counseling services provided by trained nurses are also required.

• 대한생식의학회:학술대회논문집
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• 2003.06a
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• pp.15-18
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• 2003

• The Journal of the Korean life insurance medical association
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• v.12
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• pp.50-55
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• 1993

After a short historical resume, screening is discussed on the basis of the current philosophy of Life insurance compaines in leading countries. This is followed by considerations with regard to the future in areas of major bearing on Life insurance screening which have emerged as important within the last decade. HIV-antibody testing is dealt with from the screening point of view followed by aspects regarding the applicability of tumour marker use in Life insurance medicine. Last but not least genetic testing will be addressed, taking into account prospects for the future, as well as the resulting responsibility in medical and underwriting terms. The major considerations and suggested guidelines can be summarized as follows: 1) Screening in Life insurance is a prerequisite for underwriting and is a well-functioning selection instrument. 2) Screening technologies are medically well defined and have to follow general clinical rules, also in the future. 3) Screening parameters should follow the patterns of diseases according to age and risk groups. 4) Screening parameters for prognostic use are legitimate as long as they are considered in conjuction with clinical medical observations and rules. 5) Screening technologies of a sensitive nature require very special rules for handling in the sense of "consequential ethies". 6) Screening parameters like HIV-antibody testing require ongoing scientific feedback in their new testing dimensions. 7) Screening in the form of genetic testing is as yet not used in Life insurance; its potential future role in Life insurfance medicine must, however, be discussed responsibly and in time. 8) Screening enables the insurance industry to rule out possible antiselection and provide for equal knowledge on the part of the insurance applicant and the insurer about impairements which shorten life expectancy. 9) Screening, informed consent, counselling and confidentiality must go hand in hand both now and to an even greater extent in the future.

• Journal of Genetic Medicine
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• v.11 no.2
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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.

• Microbiology and Biotechnology Letters
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• v.28 no.6
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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.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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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.

• Journal of Genetic Medicine
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• v.5 no.1
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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.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.60 no.4
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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.

• Asian-Australasian Journal of Animal Sciences
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• v.30 no.2
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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.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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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.