• Title/Summary/Keyword: IVS

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BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis

  • Forat-Yazdi, Mohammad;Neamatzadeh, Hossein;Sheikhha, Mohammad Hasan;Zare-Shehneh, Masoud;Fattahi, Mortaza
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.3
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    • pp.1219-1224
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    • 2015
  • Background: To date several common mutations in BRCA1 and BRCA2 associated with breast cancer have been reported in different populations. However, the common BRCA1 and BRCA2 mutations among breast cancer patients in Iran have not been described in detail. Materials and Methods: To comprehensively assess the frequency and distribution of the most common BRCA1 and BRCA2 mutations in Iranian breast cancer patients, we conducted this meta-analysis on 13 relevant published studies indentified in a literature search on PubMed and SID. Results: A total of 11 BRCA1 and BRCA2 distinct common mutations were identified, reported twice or more in the articles, of which 10 (c.2311T>C, c.3113A>G, c.4308T>C, c.4837A>G, c.2612C>T, c.3119G>A, c.3548A>G, c.5213G>A c.IVS16-92A/G, and c.IVS16-68A/G) mutations were in BRCA1, and 1 (c.4770A>G) was in BRCA2. The mutations were in exon 11, exon 13, intron 16, and exon 20 of BRCA1 and exon 11 of BRCA2. All have been previously reported in different populations. Conclusions: These meta analysis results should be helpful in understanding the possibility of any first true founder mutation of BRCA1/BRCA2 in the Iranian population. In addition, they will be of significance for diagnostic testing, genetic counseling and for epidemiological studies.

Cloning, expression, and activity of type IV antifreeze protein from cultured subtropical olive flounder (Paralichthys olivaceus)

  • Lee, Jong Kyu;Kim, Hak Jun
    • Fisheries and Aquatic Sciences
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    • v.19 no.8
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    • pp.33.1-33.7
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    • 2016
  • Antifreeze proteins (AFPs) lower the freezing point but not the melting point of aqueous solutions by inhibiting the growth of ice crystals via an adsorption-inhibition mechanism. However, the function of type IV AFP (AFP IV) is questionable, as its antifreeze activity is on the verge of detectable limits, its physiological concentration in adult fish blood is too low to function as a biological antifreeze, and its homologues are present even in fish from tropic oceans as well as freshwater. Therefore, we speculated that AFP IV may have gained antifreeze activity not by selective pressure but by chance. To test this hypothesis, we cloned, expressed, and assayed AFP IV from cultured subtropical olive flounder (Paralichthys olivaceus), which do not require antifreeze protein for survival. Among the identified expressed sequence tags of the flounder liver sample, a 5'-deleted complementary DNA (cDNA) sequence similar to the afp4 gene of the longhorn sculpin was identified, and its full-length cDNA and genome structure were examined. The deduced amino acid sequence of flounder AFP IV shared 55, 53, 52, and 49 % identity with those of Pleuragramma antarcticum, Myoxocephalus octodecemspinosus, Myoxocephalus scorpius, and Notothenia coriiceps, respectively. Furthermore, the genomic structure of this gene was conserved with those of other known AFP IVs. Notably, the recombinant AFP IV showed a weak but distinct thermal hysteresis of $0.07{\pm}0.01^{\circ}C$ at the concentration of 0.5 mg/mL, and ice crystals in an AFP IV solution grew star-shaped, which are very similar to those obtained from other polar AFP IVs. Taken together, our results do not support the hypothesis of evolution of AFP IV by selective pressure, suggesting that the antifreeze activity of AFP IV may have been gained by chance.

Identification of Novel Mutations In Adenosine Deaminase Gene In Korean Leukemia Patients (한국인 백혈병 환자에서 아데노신 디아미나제 유전자의 새로운 변이의 확인)

  • Park, Ki-Ho
    • Journal of Life Science
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    • v.20 no.3
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    • pp.453-456
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    • 2010
  • Leukemia is the abnormal increase of hematopoietic progenitor cells in tissues, resulting in anemia, increased susceptibility to infection and impaired blood clotting. The adenosine deaminase (ADA) gene is an important druggable target for the treatment of leukemia patients. Genetic and molecular analyses were performed to determine the effects of ADA gene mutations in 20 leukemia patients in the Korean population. To analyze the relationship between genotype and phenotype, the ADA genomic DNAs - including 1,092 bp of 12 exons and partial intron sequences flanking each exon - were sequenced and compared. In this study, the known mutations in other diseases, more than 50 mutations already reported in patients with severe combined immunodeficiency disease (SCID) and autism, were not found, but two novel mutations in leukemia patients were discovered. They include one nonsense mutation (A>C at nt position 478, F101F) and one missense mutation (G>A at nt position 778, E260K). One missense mutation (G>A at nt position 22, D8Y) was also detected in 20 normal control patients (allelic frequency of 7.5%). Interestingly, subjects in the Korean population retained 2 bp insertion at the intron 6 (IVS6-52insGC), something that has never been shown in other populations. The genetic study to find out the correlation between the mutant alleles and leukemia patients revealed no association statistically (p>0.05). The mutation found in leukemia needs further study to determine its possibility as a molecular marker for the diagnosis of leukemia.

The Vulnerability Improvement Research Using Pseudo-Random Number Generator Scheme in EncFS (의사 난수 생성 방식을 이용한 EncFS의 취약점 개선 연구)

  • Jeong, Won-Seok;Jeong, Jaeyeol;Jeong, Ik Rae
    • Journal of the Korea Institute of Information Security & Cryptology
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    • v.26 no.6
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    • pp.1539-1550
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    • 2016
  • In modern society, the number of applications, which needs storage, is increased. Among them, the advance of FinTech increased the importance of storage encryption. FinTech storage, storing sensitive information, should be kept secure. Unless the storage is kept, many users will be damaged monetarily. To prevent this problem, we should encrypt the storage. A EncFS, which is one of the most popular storage encryption application, uses different IVs for each block to provide higher levels of security in the encryption algorithm. However, there is a vulnerability related to the usage of same IVs. In this paper, we propose a technique that decrypts the ciphertexts without knowing the secret key by using the vulnerability. Moreover, we show that the EncFS is not secure under IND-CPA model and propose a new scheme which is secure under IND-CPA model.

Association of circulating 25-hydroxyvitamin D levels with hypertension and blood pressure values in Korean adults: A Mendelian randomization study on a subset of the Korea National Health and Nutrition Survey 2011-2012 population

  • Kwak, So-Young;Cho, Yoonsu;Oh, Hannah;Shin, Min-Jeong
    • Nutrition Research and Practice
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    • v.13 no.6
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    • pp.498-508
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    • 2019
  • BACKGROUND/OBJECTIVES: Lower circulating 25-hydroxyvitamin D [25(OH)D] levels are associated with a higher risk of hypertension (HTN); however, it remains unclear whether the relationship is causal. We aimed to evaluate the causal effects of circulating 25(OH)D levels on the prevalence of HTN in the Korean population using the Mendelian randomization (MR) approach. SUBJECTS/METHODS: Epidemiological data, serum 25(OH)D data, and genomic DNA biospecimens were obtained from 2,591 participants, a subset of the study population in the Korea National Health and Nutrition Survey 2011-2012. Five 25(OH)D-related single nucleotide polymorphisms (SNPs; DHCR7 rs12785878, CYP2R1 rs10741657, CYP2R1 rs12794714, CYP24A1 rs6013897, and GC rs2282679), identified a priori from genome-wide association studies, were used as instrument variables (IVs) for serum 25(OH)D levels. In the MR analysis, we performed IV analyses using the two-stage least squares method. RESULTS: In the observational analysis, circulating 25(OH)D levels were found to be inversely associated with the HTN prevalence in ordinary least squares models (odds ratio: 0.97, 95% confidence interval: 0.96, 0.99) after adjusting for the potential confounders. There were differences in the circulating 25(OH)D levels across genotypes of individual SNPs. In the MR analysis, using individual SNPs as IVs, 25(OH)D levels were not associated with the HTN prevalence. CONCLUSIONS: We found no association between genetically determined circulating 25(OH)D levels and HTN in Korean adults. Our results are listed owing to the relatively small sample size and possible weak instrument bias; therefore, further studies are needed to confirm these results.

Association of coffee consumption with type 2 diabetes and glycemic traits: a Mendelian randomization study

  • Hyun Jeong Cho;Akinkunmi Paul Okekunle ;Ga-Eun Yie ;Jiyoung Youn ;Moonil Kang;Taiyue Jin;Joohon Sung;Jung Eun Lee
    • Nutrition Research and Practice
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    • v.17 no.4
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    • pp.789-802
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    • 2023
  • BACKGROUND/OBJECTIVES: Habitual coffee consumption was inversely associated with type 2 diabetes (T2D) and hyperglycemia in observational studies, but the causality of the association remains uncertain. This study tested a causal association of genetically predicted coffee consumption with T2D using the Mendelian randomization (MR) method. SUBJECTS/METHODS: We used five single-nucleotide polymorphisms (SNPs) as instrumental variables (IVs) associated with habitual coffee consumption in a previous genome-wide association study among Koreans. We analyzed the associations between IVs and T2D, fasting blood glucose (FBG), 2h-postprandial glucose (2h-PG), and glycated haemoglobin (HbA1C) levels. The MR results were further evaluated by standard sensitivity tests for possible pleiotropism. RESULTS: MR analysis revealed that increased genetically predicted coffee consumption was associated with a reduced prevalence of T2D; ORs per one-unit increment of log-transformed cup per day of coffee consumption ranged from 0.75 (0.62-0.90) for the weighted mode-based method to 0.79 (0.62-0.99) for Wald ratio estimator. We also used the inverse-variance-weighted method, weighted median-based method, MR-Egger method, and MR-PRESSO method. Similarly, genetically predicted coffee consumption was inversely associated with FBG and 2h-PG levels but not with HbA1c. Sensitivity measures gave similar results without evidence of pleiotropy. CONCLUSIONS: A genetic predisposition to habitual coffee consumption was inversely associated with T2D prevalence and lower levels of FBG and 2h-PG profiles. Our study warrants further exploration.

Effect of extracting solvents on physicochemical properties of vegetable seed oils and their suitability for industrial applications

  • Qeency Etim Essien;Michael Akomaye Akpe;Ofonime Okon Udo;Collins Irechukwu Nwobodo
    • Food Science and Preservation
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    • v.31 no.4
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    • pp.554-564
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    • 2024
  • The effects of extracting solvents on the physicochemical properties of vegetable oils extracted from four oil seed plants, namely Dennettia tripetala, Dacryodes edulis, Cola rostrata, and Persea americana, were studied. Vegetable oils were extracted using the Soxhlet method. The oils were used for determining % yield, acid value (AV), iodine value (IV), saponification value (SV), electrical conductivity (EC), and pH. The results revealed that the range of the mean % yield of oils extracted using hexane, carbon tetrachloride (CCl4), petroleum ether, acetone, and methanol, respectively, were 7.5-12.0, 9.0-22.0, 7.5-27.5 and 12.0-37.5 for the four oil Seeds respectively. Mean AVs of oils in mg KOH/g across the solvents were 3.1-3.7, 3.1-3.8, 2.5-3.9 and 2.4-2.8 for Cola rostrata, Dacryodes edulis, Dennettia tripetala and Persea americana respectively. Mean IVs of oils in gI2/100 g across the solvents were 33.25-33.97, 33.06-33.35, 32.06-33.76 and 33.00-34.00 for the four oil seeds, respectively. Mean SVs in mg KOH/g across the solvents were 191.00-197.44, 190.74-198.31, 194.11-202.52, and 182.23-199.44, respectively. Mean EC values ranged 0.31-0.32, 0.30-0.33, 0.30-0.33, and 0.31-0.32 µS/cm across the solvents, respectively. Mean pH values ranged from 6.1-6.4, 4.6-6.3, 6.2-6.4, and 6.1-6.3 across the solvents for the oils, respectively. The AVs of the oils suggest that they are edible oils, the IVs classify the oils as non-drying oils suitable for paint making, and SVs reveal that the oils are good for soap making. Hexane, petroleum ether, and CCl4 are suitable for oil extraction industrially, while D. edulis, D. tripetala, and P. Americana oils are economically viable oil resources due to their high percentage yield, SV and IV.

Mini PC control system for BYG type water supply units (BYG형 급수기의 MINI PC 제어 시스템)

  • 박용규;강영모
    • 제어로봇시스템학회:학술대회논문집
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    • 1993.10a
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    • pp.1167-1171
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    • 1993
  • A highly efficient hydropneumatic water supply system type BGY is designed and built in accordance with ISO standard. The technical features of BYG type pump unit can be summarized as follows: - reduce hydropneumatic tank capacity at the ratio of 1/10 - 1/30 compared with conventional method. - ISO standard pumps can be used. - the development of highly efficient water supply system type BYG is based on long-term experiences with the proven constant pressure water supply technique which minimize pressure fluctuation, rapid pilsation, etc. The text contains the operation principle of BYG type water supply system, introduction of closed cycle control process focused on Mini PC and experimental results of type BYG-IVS-90x45.

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Intelligent Online Driving System

  • Xuan, Chau-Nguyen;Youngil Youm
    • 제어로봇시스템학회:학술대회논문집
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    • 2000.10a
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    • pp.479-479
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    • 2000
  • Recently, IVS(Intelligent Vehicle Systems) or ITS(Intelligent Traffic Systems) are much concerned subjects of automotive industry. In this paper, we will introduce an Intelligent Online Driving System for a car. This system allows the driver to be able to drive the car just by operating an integrated joystick. The proposed driving system could be implemented into any car and the key point of the design is that the driver still can drive the car as normal without using the joystick. Our Intelligent Online Driving System includes the integrated joystick, steering wheel control system, brake and acceleration (B&A)pedals control system, and the central control computer system. Steering wheel and B&A pedals are controlled by AC servo-motors. The integrated joystick generates the desired positions and the embedded computer controls these two servomotors to track the commands given by joystick. The control method for two servo-motors is PID control.

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Model Averaging Methods for Estimating Implied and Local Volatility Surfaces

  • Kim, Nam-Hyoung;Lee, Jae-Wook;Han, Gyu-Sik
    • Industrial Engineering and Management Systems
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    • v.8 no.2
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    • pp.93-100
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    • 2009
  • In this paper, we review widely used methods to extract local volatility surfaces (LVSs) from implied volatility surfaces (IVSs) and suggest a model averaging method for constructing implied and local volatility surfaces weighted by trading volumes. It makes use of model averaging method by means of bandwidth priors, and then produces a robust LVS estimation. The method is shown to provide the information about the confidence interval of estimators as well as a rather less variable weighted mean value for the IVS and LVS. To show the merits of our proposed method, we conduct simulations on equity-linked warrants (ELWs) with reasonable and acceptable results.