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Sample records for detailed haplotype analysis

  1. iHAP – integrated haplotype analysis pipeline for characterizing the haplotype structure of genes

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    Lim Yun Ping

    2006-12-01

    Full Text Available Abstract Background The advent of genotype data from large-scale efforts that catalog the genetic variants of different populations have given rise to new avenues for multifactorial disease association studies. Recent work shows that genotype data from the International HapMap Project have a high degree of transferability to the wider population. This implies that the design of genotyping studies on local populations may be facilitated through inferences drawn from information contained in HapMap populations. Results To facilitate analysis of HapMap data for characterizing the haplotype structure of genes or any chromosomal regions, we have developed an integrated web-based resource, iHAP. In addition to incorporating genotype and haplotype data from the International HapMap Project and gene information from the UCSC Genome Browser Database, iHAP also provides capabilities for inferring haplotype blocks and selecting tag SNPs that are representative of haplotype patterns. These include block partitioning algorithms, block definitions, tag SNP definitions, as well as SNPs to be "force included" as tags. Based on the parameters defined at the input stage, iHAP performs on-the-fly analysis and displays the result graphically as a webpage. To facilitate analysis, intermediate and final result files can be downloaded. Conclusion The iHAP resource, available at http://ihap.bii.a-star.edu.sg, provides a convenient yet flexible approach for the user community to analyze HapMap data and identify candidate targets for genotyping studies.

  2. Analysis of Multiallelic CNVs by Emulsion Haplotype Fusion PCR.

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    Tyson, Jess; Armour, John A L

    2017-01-01

    Emulsion-fusion PCR recovers long-range sequence information by combining products in cis from individual genomic DNA molecules. Emulsion droplets act as very numerous small reaction chambers in which different PCR products from a single genomic DNA molecule are condensed into short joint products, to unite sequences in cis from widely separated genomic sites. These products can therefore provide information about the arrangement of sequences and variants at a larger scale than established long-read sequencing methods. The method has been useful in defining the phase of variants in haplotypes, the typing of inversions, and determining the configuration of sequence variants in multiallelic CNVs. In this description we outline the rationale for the application of emulsion-fusion PCR methods to the analysis of multiallelic CNVs, and give practical details for our own implementation of the method in that context.

  3. Analysis of DR4 haplotypes in insulin dependent diabetes (IDD)

    International Nuclear Information System (INIS)

    Monos, D.S.; Radka, S.F.; Zmijewski, C.M.; Kamoun, M.

    1986-01-01

    Population studies indicate that HLA-DR4 is implicated in the susceptibility of IDD. However, biochemical characterization of the serologically defined DR4 haplotype from normal individuals revealed five DR4 and three DQW3 molecular forms. Hence, in this study, they investigated the heterogeneity of the DR4 haplotype, using B-lymphoblastoid cell lines (B-LCL) generated from patients with IDD and seropositive for DR4. Class II molecules, metabolically labeled with 35 S-methionine, were immunoprecipitated with monoclonal antibodies specific for DR(L243), DQ(N297), DQW3(IVD12) or DR and DQ(SG465) and analyzed by two-dimensional polyacrylamide gel electrophoresis (2D-PAGE). The isoelectrofocusing (IEF) conditions employed in this study allow representation only of the DR4 haplotype from either DR3/4 or DR4/4 cell lines. The analysis of six different DR4 haplotypes from seven IDD patients, revealed the presence of two DR4 β and two DQW3 β chains. Three of the six DR4 β haplotypes analyzed shared the same DR4 β chain and three others shared a different one. Additionally five of the six haplotypes shared a different one. Additionally five of the six haplotypes shared the same DQW3 β chain and only one was carrying a different one. Different combinations of the two DR4 and two DQW3 β chains constitute three distinct patterns of DR4 haplotypes. These results suggest the prevalence of a DQW3 β chain in the small sample of IDD patients studied. Studies of a large number of patients should clarify whether IDD is associated with unique variants of DR4 or DQW3 β chains

  4. Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

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    Park, Joonhong; Kim, Myungshin; Jang, Woori; Chae, Hyojin; Kim, Yonggoo; Chung, Nack-Gyun; Lee, Jae-Wook; Cho, Bin; Jeong, Dae-Chul; Park, In Yang; Park, Mi Sun

    2015-05-01

    A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG. Our aim in this study was to investigate the origin of these common mutations of FANCA and FANCG. We genotyped 13 FA patients consisting of five FA-A patients and eight FA-G patients from the Korean FA population. Microsatellite markers used for haplotype analysis included four CA repeat markers which are closely linked with FANCA and eight CA repeat markers which are contiguous with FANCG. As a result, Korean FA-A patients carrying c.2546delC or c.3720_3724delAAACA did not share the same haplotypes. However, three unique haplotypes carrying c.307+1G>C, c.1066C > T, or c.1589_1591delATA, that consisted of eight polymorphic loci covering a flanking region were strongly associated with Korean FA-G, consistent with founder haplotypes reported previously in the Japanese FA-G population. Our finding confirmed the common ancestral haplotypes on the origins of the East Asian FA-G patients, which will improve our understanding of the molecular population genetics of FA-G. To the best of our knowledge, this is the first report on the association between disease-linked mutations and common ancestral haplotypes in the Korean FA population. © 2015 John Wiley & Sons Ltd/University College London.

  5. Haplotype association analysis of human disease traits using genotype data of unrelated individuals

    DEFF Research Database (Denmark)

    Tan, Qihua; Christiansen, Lene; Christensen, Kaare

    2005-01-01

    unphased multi-locus genotype data, ranging from the early approach by the simple gene-counting method to the recent work using the generalized linear model. However, these methods are either confined to case – control design or unable to yield unbiased point and interval estimates of haplotype effects....... Based on the popular logistic regression model, we present a new approach for haplotype association analysis of human disease traits. Using haplotype-based parameterization, our model infers the effects of specific haplotypes (point estimation) and constructs confidence interval for the risks...... on the well-known logistic regression model is a useful tool for haplotype association analysis of human disease traits....

  6. Genome-wide haplotype analysis of cis expression quantitative trait loci in monocytes.

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    Sophie Garnier

    Full Text Available In order to assess whether gene expression variability could be influenced by several SNPs acting in cis, either through additive or more complex haplotype effects, a systematic genome-wide search for cis haplotype expression quantitative trait loci (eQTL was conducted in a sample of 758 individuals, part of the Cardiogenics Transcriptomic Study, for which genome-wide monocyte expression and GWAS data were available. 19,805 RNA probes were assessed for cis haplotypic regulation through investigation of ~2,1 × 10(9 haplotypic combinations. 2,650 probes demonstrated haplotypic p-values >10(4-fold smaller than the best single SNP p-value. Replication of significant haplotype effects were tested for 412 probes for which SNPs (or proxies that defined the detected haplotypes were available in the Gutenberg Health Study composed of 1,374 individuals. At the Bonferroni correction level of 1.2 × 10(-4 (~0.05/412, 193 haplotypic signals replicated. 1000 G imputation was then conducted, and 105 haplotypic signals still remained more informative than imputed SNPs. In-depth analysis of these 105 cis eQTL revealed that at 76 loci genetic associations were compatible with additive effects of several SNPs, while for the 29 remaining regions data could be compatible with a more complex haplotypic pattern. As 24 of the 105 cis eQTL have previously been reported to be disease-associated loci, this work highlights the need for conducting haplotype-based and 1000 G imputed cis eQTL analysis before commencing functional studies at disease-associated loci.

  7. Haplotype analysis and linkage disequilibrium for DGAT1

    OpenAIRE

    Strucken, Eva M.; Rahmatalla, Siham; De Koning, Dirk-Jan; Brockmann, Gudrun A.

    2010-01-01

    This study focused on haplotype effects and linkage disequilibrium (LD) for the K232A locus and the promoter VNTR in the DGAT1 gene. Analyses were carried out in three German Holstein Frisian populations (including 492, 305, and 518 animals) for milk yield, milk fat and protein yield, and milk fat and protein content. We found that effects of the promoter VNTR were not significant and explain only a small amount of the variation of the QTL on BTA14. Haplotype effects were less significant tha...

  8. Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.

    Science.gov (United States)

    Dehghanian, Fatemeh; Silawi, Mohammad; Tabei, Seyed M B

    2017-02-01

    Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations. In this study, 13 unrelated classical PKU patients took part in the study detecting causative mutations. Mutations were identified by polymerase chain reaction (PCR) and direct sequencing in all patients. After that, haplotype analysis was performed by studying VNTR and PAHSTR markers (linked genetic markers of the PAH gene) through application of PCR and capillary electrophoresis (CE). Mutation analysis was performed successfully and the detected mutations were as follows: c.782G>A, c.754C>T, c.842C>G, c.113-115delTCT, c.688G>A, and c.696A>G. Additionally, PAHSTR/VNTR haplotypes were detected to discover haplotypes linked to each mutation. Mutation detection is the best approach for confirming PAH enzyme deficiency in PKU patients. Due to the relatively large size of the PAH gene and high cost of the direct sequencing in developing countries, haplotype analysis could be used before DNA sequencing and mutation detection for a faster and cheaper way via identifying probable mutated exons.

  9. Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk.

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    Sara Karami

    2009-09-01

    Full Text Available In the kidney vitamin D is converted to its active form. Since vitamin D exerts its activity through binding to the nuclear vitamin D receptor (VDR, most genetic studies have primarily focused on variation within this gene. Therefore, analysis of genetic variation in VDR and other vitamin D pathway genes may provide insight into the role of vitamin D in renal cell carcinoma (RCC etiology. RCC cases (N = 777 and controls (N = 1,035 were genotyped to investigate the relationship between RCC risk and variation in eight target genes. Minimum-p-value permutation (Min-P tests were used to identify genes associated with risk. A three single nucleotide polymorphism (SNP sliding window was used to identify chromosomal regions with a False Discovery Rate of <10%, where subsequently, haplotype relative risks were computed in Haplostats. Min-P values showed that VDR (p-value = 0.02 and retinoid-X-receptor-alpha (RXRA (p-value = 0.10 were associated with RCC risk. Within VDR, three haplotypes across two chromosomal regions of interest were identified. The first region, located within intron 2, contained two haplotypes that increased RCC risk by approximately 25%. The second region included a haplotype (rs2239179, rs12717991 across intron 4 that increased risk among participants with the TC (OR = 1.31, 95% CI = 1.09-1.57 haplotype compared to participants with the common haplotype, TT. Across RXRA, one haplotype located 3' of the coding sequence (rs748964, rs3118523, increased RCC risk 35% among individuals with the variant haplotype compared to those with the most common haplotype. This study comprehensively evaluated genetic variation across eight vitamin D pathway genes in relation to RCC risk. We found increased risk associated with VDR and RXRA. Replication studies are warranted to confirm these findings.

  10. Cluster analysis of European Y-chromosomal STR haplotypes using the discrete Laplace method

    DEFF Research Database (Denmark)

    Andersen, Mikkel Meyer; Eriksen, Poul Svante; Morling, Niels

    2014-01-01

    The European Y-chromosomal short tandem repeat (STR) haplotype distribution has previously been analysed in various ways. Here, we introduce a new way of analysing population substructure using a new method based on clustering within the discrete Laplace exponential family that models the probabi......The European Y-chromosomal short tandem repeat (STR) haplotype distribution has previously been analysed in various ways. Here, we introduce a new way of analysing population substructure using a new method based on clustering within the discrete Laplace exponential family that models...... the probability distribution of the Y-STR haplotypes. Creating a consistent statistical model of the haplotypes enables us to perform a wide range of analyses. Previously, haplotype frequency estimation using the discrete Laplace method has been validated. In this paper we investigate how the discrete Laplace...... method can be used for cluster analysis to further validate the discrete Laplace method. A very important practical fact is that the calculations can be performed on a normal computer. We identified two sub-clusters of the Eastern and Western European Y-STR haplotypes similar to results of previous...

  11. Analysis of Molecular Variance Inferred from Metric Distances among DNA Haplotypes: Application to Human Mitochondrial DNA Restriction Data

    OpenAIRE

    Excoffier, L.; Smouse, P. E.; Quattro, J. M.

    1992-01-01

    We present here a framework for the study of molecular variation within a single species. Information on DNA haplotype divergence is incorporated into an analysis of variance format, derived from a matrix of squared-distances among all pairs of haplotypes. This analysis of molecular variance (AMOVA) produces estimates of variance components and F-statistic analogs, designated here as φ-statistics, reflecting the correlation of haplotypic diversity at different levels of hierarchical subdivisi...

  12. Analysis of polymorphisms and haplotype structure of the human thymidylate synthase genetic region: a tool for pharmacogenetic studies.

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    Soma Ghosh

    Full Text Available 5-Fluorouracil (5FU, a widely used chemotherapeutic drug, inhibits the DNA replicative enzyme, thymidylate synthase (Tyms. Prior studies implicated a VNTR (variable numbers of tandem repeats polymorphism in the 5'-untranslated region (5'-UTR of the TYMS gene as a determinant of Tyms expression in tumors and normal tissues and proposed that these VNTR genotypes could help decide fluoropyrimidine dosing. Clinical associations between 5FU-related toxicity and the TYMS VNTR were reported, however, results were inconsistent, suggesting that additional genetic variation in the TYMS gene might influence Tyms expression. We thus conducted a detailed genetic analysis of this region, defining new polymorphisms in this gene including mononucleotide (poly A:T repeats and novel single nucleotide polymorphisms (SNPs flanking the VNTR in the TYMS genetic region. Our haplotype analysis of this region used data from both established and novel genetic variants and found nine SNP haplotypes accounting for more than 90% of the studied population. We observed non-exclusive relationships between the VNTR and adjacent SNP haplotypes, such that each type of VNTR commonly occurred on several haplotype backgrounds. Our results confirmed the expectation that the VNTR alleles exhibit homoplasy and lack the common ancestry required for a reliable marker of a linked adjacent locus that might govern toxicity. We propose that it may be necessary in a clinical trial to assay multiple types of genetic polymorphisms in the TYMS region to meaningfully model linkage of genetic markers to 5FU-related toxicity. The presence of multiple long (up to 26 nt, polymorphic monothymidine repeats in the promoter region of the sole human thymidylate synthetic enzyme is intriguing.

  13. Detailed Astrometric Analysis of Pluto

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    ROSSI, GUSTAVO B.; Vieira-Martins, R.; Camargo, J. I.; Assafin, M.

    2013-05-01

    Abstract (2,250 Maximum Characters): Pluto is the main representant of the transneptunian objects (TNO's), presenting some peculiarities such as an atmosphere and a satellite system with 5 known moons: Charon, discovered in 1978, Nix and Hydra, in 2006, P4 in 2011 and P5 in 2012. Until the arrival of the New Horizons spacecraft to this system (july 2015), stellar occultations are the most efficient method, from the ground, to know physical and dinamical properties of this system. In 2010, it was evident a drift in declinations (about 20 mas/year) comparing to the ephemerides. This fact motivated us to remake the reductions and analysis of a great set of our observations at OPD/LNA, in a total of 15 years. The ephemerides and occultations results was then compared with the astrometric and photometric reductions of CCD images of Pluto (around 6500 images). Two corrections were used for a refinement of the data set: diferential chromatic refraction and photocenter. The first is due to the mean color of background stars beeing redder than the color of Pluto, resulting in a slightly different path of light through the atmosphere (that may cause a difference in position of 0.1”). It became more evident because Pluto is crossing the region of the galactic plane. The photocenter correction is based on two gaussians curves overlapped, with different hights and non-coincident centers, corresponding to Pluto and Charon (since they have less than 1” of angular separation). The objective is to separate these two gaussian curves from the observed one and find the right position of Pluto. The method is strongly dependent of the hight of each of the gaussian curves, related to the respective albedos of charon and Pluto. A detailed analysis of the astrometric results, as well a comparison with occultation results was made. Since Pluto has an orbital period of 248,9 years and our interval of observation is about 15 years, we have around 12% of its observed orbit and also, our

  14. SNP and haplotype analysis reveal IGF2 variants associated with growth traits in Chinese Qinchuan cattle.

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    Huang, Yong-Zhen; Zhan, Zhao-Yang; Li, Xin-Yi; Wu, Sheng-Ru; Sun, Yu-Jia; Xue, Jing; Lan, Xian-Yong; Lei, Chu-Zhao; Zhang, Chun-Lei; Jia, Yu-Tang; Chen, Hong

    2014-02-01

    Insulin-like growth factor 2 (IGF2) is a potent cell growth and differentiation factor and is implicated in mammals' growth and development. The objective of this study was to evaluate the effects of the mutations in the bovine IGF2 with growth traits in Chinese Qinchuan cattle. Four single nucleotide polymorphisms (SNPs) were detected of the bovine IGF2 by DNA pool sequencing and forced polymerase chain reaction-restriction fragment length polymorphism (forced PCR-RFLP) methods. We also investigated haplotype structure and linkage disequilibrium (LD) coefficients for four SNPs in 817 individuals representing two main cattle breeds from China. The result of haplotype analysis showed eight different haplotypes and 27 combined genotypes within the study population. The statistical analyses indicated that the four SNPs, combined genotypes and haplotypes are associated with the withers height, body length, chest breadth, chest depth and body weight in Qinchuan cattle population (P growth traits; the heterozygote diplotype was associated with higher growth traits compared to wild-type homozygote. Our results provide evidence that polymorphisms in the IGF2 gene are associated with growth traits, and may be used for marker-assisted selection in beef cattle breeding program.

  15. The analysis of APOL1 genetic variation and haplotype diversity provided by 1000 Genomes project.

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    Peng, Ting; Wang, Li; Li, Guisen

    2017-08-11

    The APOL1 gene variants has been shown to be associated with an increased risk of multiple kinds of diseases, particularly in African Americans, but not in Caucasians and Asians. In this study, we explored the single nucleotide polymorphism (SNP) and haplotype diversity of APOL1 gene in different races provided by 1000 Genomes project. Variants of APOL1 gene in 1000 Genome Project were obtained and SNPs located in the regulatory region or coding region were selected for genetic variation analysis. Total 2504 individuals from 26 populations were classified as four groups that included Africa, Europe, Asia and Admixed populations. Tag SNPs were selected to evaluate the haplotype diversities in the four populations by HaploStats software. APOL1 gene was surrounded by some of the most polymorphic genes in the human genome, variation of APOL1 gene was common, with up to 613 SNP (1000 Genome Project reported) and 99 of them (16.2%) with MAF ≥ 1%. There were 79 SNPs in the URR and 92 SNPs in 3'UTR. Total 12 SNPs in URR and 24 SNPs in 3'UTR were considered as common variants with MAF ≥ 1%. It is worth noting that URR-1 was presents lower frequencies in European populations, while other three haplotypes taken an opposite pattern; 3'UTR presents several high-frequency variation sites in a short segment, and the differences of its haplotypes among different population were significant (P < 0.01), UTR-1 and UTR-5 presented much higher frequency in African population, while UTR-2, UTR-3 and UTR-4 were much lower. APOL1 coding region showed that two SNP of G1 with higher frequency are actually pull down the haplotype H-1 frequency when considering all populations pooled together, and the diversity among the four populations be widen by the G1 two mutation (P 1  = 3.33E-4 vs P 2  = 3.61E-30). The distributions of APOL1 gene variants and haplotypes were significantly different among the different populations, in either regulatory or coding regions. It could provide

  16. Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes

    KAUST Repository

    Chatterjee, Nilanjan

    2009-11-01

    Although prospective logistic regression is the standard method of analysis for case-control data, it has been recently noted that in genetic epidemiologic studies one can use the "retrospective" likelihood to gain major power by incorporating various population genetics model assumptions such as Hardy-Weinberg-Equilibrium (HWE), gene-gene and gene-environment independence. In this article we review these modern methods and contrast them with the more classical approaches through two types of applications (i) association tests for typed and untyped single nucleotide polymorphisms (SNPs) and (ii) estimation of haplotype effects and haplotype-environment interactions in the presence of haplotype-phase ambiguity. We provide novel insights to existing methods by construction of various score-tests and pseudo-likelihoods. In addition, we describe a novel two-stage method for analysis of untyped SNPs that can use any flexible external algorithm for genotype imputation followed by a powerful association test based on the retrospective likelihood. We illustrate applications of the methods using simulated and real data. © Institute of Mathematical Statistics, 2009.

  17. Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes

    KAUST Repository

    Chatterjee, Nilanjan; Chen, Yi-Hau; Luo, Sheng; Carroll, Raymond J.

    2009-01-01

    Although prospective logistic regression is the standard method of analysis for case-control data, it has been recently noted that in genetic epidemiologic studies one can use the "retrospective" likelihood to gain major power by incorporating various population genetics model assumptions such as Hardy-Weinberg-Equilibrium (HWE), gene-gene and gene-environment independence. In this article we review these modern methods and contrast them with the more classical approaches through two types of applications (i) association tests for typed and untyped single nucleotide polymorphisms (SNPs) and (ii) estimation of haplotype effects and haplotype-environment interactions in the presence of haplotype-phase ambiguity. We provide novel insights to existing methods by construction of various score-tests and pseudo-likelihoods. In addition, we describe a novel two-stage method for analysis of untyped SNPs that can use any flexible external algorithm for genotype imputation followed by a powerful association test based on the retrospective likelihood. We illustrate applications of the methods using simulated and real data. © Institute of Mathematical Statistics, 2009.

  18. Application of the Linux cluster for exhaustive window haplotype analysis using the FBAT and Unphased programs.

    Science.gov (United States)

    Mishima, Hiroyuki; Lidral, Andrew C; Ni, Jun

    2008-05-28

    Genetic association studies have been used to map disease-causing genes. A newly introduced statistical method, called exhaustive haplotype association study, analyzes genetic information consisting of different numbers and combinations of DNA sequence variations along a chromosome. Such studies involve a large number of statistical calculations and subsequently high computing power. It is possible to develop parallel algorithms and codes to perform the calculations on a high performance computing (HPC) system. However, most existing commonly-used statistic packages for genetic studies are non-parallel versions. Alternatively, one may use the cutting-edge technology of grid computing and its packages to conduct non-parallel genetic statistical packages on a centralized HPC system or distributed computing systems. In this paper, we report the utilization of a queuing scheduler built on the Grid Engine and run on a Rocks Linux cluster for our genetic statistical studies. Analysis of both consecutive and combinational window haplotypes was conducted by the FBAT (Laird et al., 2000) and Unphased (Dudbridge, 2003) programs. The dataset consisted of 26 loci from 277 extended families (1484 persons). Using the Rocks Linux cluster with 22 compute-nodes, FBAT jobs performed about 14.4-15.9 times faster, while Unphased jobs performed 1.1-18.6 times faster compared to the accumulated computation duration. Execution of exhaustive haplotype analysis using non-parallel software packages on a Linux-based system is an effective and efficient approach in terms of cost and performance.

  19. Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy.

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    Jaruzelska, J; Zietkiewicz, E; Batzer, M; Cole, D E; Moisan, J P; Scozzari, R; Tavaré, S; Labuda, D

    1999-07-01

    With 10 segregating sites (simple nucleotide polymorphisms) in the last intron (1089 bp) of the ZFX gene we have observed 11 haplotypes in 336 chromosomes representing a worldwide array of 15 human populations. Two haplotypes representing 77% of all chromosomes were distributed almost evenly among four continents. Five of the remaining haplotypes were detected in Africa and 4 others were restricted to Eurasia and the Americas. Using the information about the ancestral state of the segregating positions (inferred from human-great ape comparisons), we applied coalescent analysis to estimate the age of the polymorphisms and the resulting haplotypes. The oldest haplotype, with the ancestral alleles at all the sites, was observed at low frequency only in two groups of African origin. Its estimated age of 740 to 1100 kyr corresponded to the time to the most recent common ancestor. The two most frequent worldwide distributed haplotypes were estimated at 550 to 840 and 260 to 400 kyr, respectively, while the age of the continentally restricted polymorphisms was 120 to 180 kyr and smaller. Comparison of spatial and temporal distribution of the ZFX haplotypes suggests that modern humans diverged from the common ancestral stock in the Middle Paleolithic era. Subsequent range expansion prevented substantial gene flow among continents, separating African groups from populations that colonized Eurasia and the New World.

  20. Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence.

    Science.gov (United States)

    Ma, Jennie Z; Beuten, Joke; Payne, Thomas J; Dupont, Randolph T; Elston, Robert C; Li, Ming D

    2005-06-15

    DOPA decarboxylase (DDC; also known as L-amino acid decarboxylase; AADC) is involved in the synthesis of dopamine, norepinephrine and serotonin. Because the mesolimbic dopaminergic system is implicated in the reinforcing effects of many drugs, including nicotine, the DDC gene is considered a plausible candidate for involvement in the development of vulnerability to nicotine dependence (ND). Further, this gene is located within the 7p11 region that showed a 'suggestive linkage' to ND in our previous genome-wide scan in the Framingham Heart Study population. In the present study, we tested eight single nucleotide polymorphisms (SNPs) within DDC for association with ND, which was assessed by smoking quantity (SQ), the heaviness of smoking index (HSI) and the Fagerstrom test for ND (FTND) score, in a total of 2037 smokers and non-smokers from 602 nuclear families of African- or European-American (AA or EA, respectively) ancestry. Association analysis for individual SNPs using the PBAT-GEE program indicated that SNP rs921451 was significantly associated with two of the three adjusted ND measures in the EA sample (P=0.01-0.04). Haplotype-based association analysis revealed a protective T-G-T-G haplotype for rs921451-rs3735273-rs1451371-rs2060762 in the AA sample, which was significantly associated with all three adjusted ND measures after correction for multiple testing (min Z=-2.78, P=0.006 for HSI). In contrast, we found a high-risk T-G-T-G haplotype for a different SNP combination in the EA sample, rs921451-rs3735273-rs1451371-rs3757472, which showed a significant association after Bonferroni correction with the SQ and FTND score (max Z=2.73, P=0.005 for FTND). In summary, our findings provide the first evidence for the involvement of DDC in the susceptibility to ND and, further, reveal the racial specificity of its impact.

  1. KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes

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    Vojvodić Svetlana

    2015-06-01

    Full Text Available The killer cell immunoglobulin-like receptor (KIR gene cluster exhibits extensive allelic and haplotypic diversity that is observed as presence/absence of genes, resulting in expansion and contraction of KIR haplotypes and by allelic variation of individual KIR genes. We report a case of KIR pseudogene 2DP1 and 2DL1 gene absence in members of one family with the children suffering from acute myelogenous leukemia (AML. Killer cell immunoglo-bulin-like receptor low resolution genotyping was performed by the polymerase chain reaction (PCR-sequencespecific primers (SSP/sequence-specific oligonucleotide (SSO method and haplotype assignment was done by gene content analysis. Both parents and the maternal grandfather, shared the same Cen-B2 KIR haplotype, containing KIR 3DL3, -2DS2, -2DL2 and -3DP1 genes. The second haplotype in the KIR genotype of the mother and grandfather was Tel-A1 with KIR 2DL4 (normal and deleted variant, -3DL1, -22 bp deletion variant of the 2DS4 gene and -3DL2, while the second haplotype in the KIR genotype of the father was Tel-B1 with 2DL4 (normal variant, -3DS1, -2DL5, -2DS5, -2DS1 and 3DL2 genes. Haplotype analysis in all three offsprings revealed that the children inherited the Cen-B2 haplotype with the same gene content but two of the children inherited a deleted variant of the 2DL4 gene, while the third child inherited a normal one. The second haplotype of all three offspring contained KIR 2DL4, -2DL5, -2DS1, -2DS4 (del 22bp variant, -2DS5, -3DL1 and -3DL2 genes, which was the basis of the assumption that there is a hybrid haplotype and that the present 3DL1 gene is a variant of the 3DS1 gene. Due to consanguinity among the ancestors, the results of KIR segregation analysis showed the existence of a very rare KIR genotype in the offspring. The family who is the subject of this case is even more interesting because the father was 10/10 human leukocyte antigen (HLA-matched to his daughter, all members of the family have

  2. Hemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis.

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    Wittaya Jomoui

    Full Text Available Hemoglobin Constant Spring (Hb CS is an abnormal Hb caused by a mutation at the termination codon of α2-globin gene found commonly among Southeast Asian and Chinese people. Association of Hb CS with α°-thalassemia leads to a thalassemia intermedia syndrome commonly encountered in the region. We report chromosome background and addressed genetic origins of Hb CS observed in a large cohort of Hb CS among Southeast Asian populations.A study was done on 102 Vietnamese (aged 15-49 year-old and 40 Laotian (aged 18-39 year-old subjects with Hb CS and results compared with 120 Hb CS genes in Thailand. Hematological parameters were recorded and Hb analysis was performed using capillary electrophoresis. Hb CS mutation and thalassemia genotypes were defined by DNA analysis. Six DNA polymorphisms within α-globin gene cluster including 5'Xba I, Bgl I, Inter-zeta HVR, AccI, RsaI and αPstI 3', were determined using PCR-RFLP assay.Nine different genotypes of Hb CS were observed. In contrast to the Thai Hb CS alleles which are mostly linked to haplotype (+-S + + -, most of the Vietnamese and the Laotian Hb CS genes were associated with haplotype (+-M + + -, both of which are different from that of the European Hb CS.Hb CS is commonly found in combination with other thalassemias among Southeast Asian populations. Accurate genotyping of the cases requires both hematologic and DNA analyses. At least two independent origins are associated with the Hb CS gene which could indirectly explain the high prevalence of this Hb variant in the region.

  3. Calibrating Detailed Chemical Analysis of M dwarfs

    Science.gov (United States)

    Veyette, Mark; Muirhead, Philip Steven; Mann, Andrew; Brewer, John; Allard, France; Homeier, Derek

    2018-01-01

    The ability to perform detailed chemical analysis of Sun-like F-, G-, and K-type stars is a powerful tool with many applications including studying the chemical evolution of the Galaxy, assessing membership in stellar kinematic groups, and constraining planet formation theories. Unfortunately, complications in modeling cooler stellar atmospheres has hindered similar analysis of M-dwarf stars. Large surveys of FGK abundances play an important role in developing methods to measure the compositions of M dwarfs by providing benchmark FGK stars that have widely-separated M dwarf companions. These systems allow us to empirically calibrate metallicity-sensitive features in M dwarf spectra. However, current methods to measure metallicity in M dwarfs from moderate-resolution spectra are limited to measuring overall metallicity and largely rely on astrophysical abundance correlations in stellar populations. In this talk, I will discuss how large, homogeneous catalogs of precise FGK abundances are crucial to advancing chemical analysis of M dwarfs beyond overall metallicity to direct measurements of individual elemental abundances. I will present a new method to analyze high-resolution, NIR spectra of M dwarfs that employs an empirical calibration of synthetic M dwarf spectra to infer effective temperature, Fe abundance, and Ti abundance. This work is a step toward detailed chemical analysis of M dwarfs at a similar precision achieved for FGK stars.

  4. Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer

    International Nuclear Information System (INIS)

    Cox, David G; Kraft, Peter; Hankinson, Susan E; Hunter, David J

    2005-01-01

    Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women. We have described a haplotype in the BRCA1 gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear

  5. Deletion analysis of male sterility effects of t-haplotypes in the mouse.

    Science.gov (United States)

    Bennett, D; Artzt, K

    1990-01-01

    We present data on the effects of three chromosome 17 deletions on transmission ratio distortion (TRD) and sterility of several t-haplotypes. All three deletions have similar effects on male TRD: that is, Tdel/tcomplete genotypes all transmit their t-haplotype in very high proportion. However, each deletion has different effects on sterility of heterozygous males, with TOr/t being fertile, Thp/t less fertile, and TOrl/t still less fertile. These data suggest that wild-type genes on chromosomes homologous to t-haplotypes can be important regulators of both TRD and fertility in males, and that the wild-type genes concerned with TRD and fertility are at least to some extent different. The data also provide a rough map of the positions of these genes.

  6. Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1 and association with bipolar affective disorder in Taiwan

    Directory of Open Access Journals (Sweden)

    Lin Yi-Mei J

    2005-03-01

    Full Text Available Abstract Background Disturbances in serotonin neurotransmission are implicated in the etiology of many psychiatric disorders, including bipolar affective disorder (BPD. The tryptophan hydroxylase gene (TPH, which codes for the enzyme catalyzing the rate-limiting step in serotonin biosynthetic pathway, is one of the leading candidate genes for psychiatric and behavioral disorders. In a preliminary study, we found that TPH1 intron7 A218C polymorphism was associated with BPD. This study was designed to investigate sequence variants of the TPH1 gene in Taiwanese and to test whether the TPH1 gene is a susceptibility factor for the BPD. Methods Using a systematic approach, we have searched the exons and promoter region of the TPH1 gene for sequence variants in Taiwanese Han and have identified five variants, A-1067G, G-347T, T3804A, C27224T, and A27237G. These five variants plus another five taken from the literature and a public database were examined for an association in 108 BPD patients and 103 controls; no association was detected for any of the 10 variants. Results Haplotype constructions using these 10 SNPs showed that the 3 most common haplotypes in both patients and controls were identical. One of the fourth common haplotype in the patient group (i.e. GGGAGACCCA was unique and showed a trend of significance with the disease (P = 0.028. However, the significance was abolished after Bonferroni correction thus suggesting the association is weak. In addition, three haplotype-tagged SNPs (htSNPs were selected to represent all haplotypes with frequencies larger than 2% in the Taiwanese Han population. The defined TPH1 htSNPs significantly reduce the marker number for haplotype analysis thus provides useful information for future association studies in our population. Conclusion Results of this study did not support the role of TPH1 gene in BPD etiology. As the current studies found the TPH1 gene under investigation belongs to the peripheral

  7. Haplotype analysis and a novel allele-sharing method refines a chromosome 4p locus linked to bipolar affective disorder.

    Science.gov (United States)

    Le Hellard, Stephanie; Lee, Andrew J; Underwood, Sarah; Thomson, Pippa A; Morris, Stewart W; Torrance, Helen S; Anderson, Susan M; Adams, Richard R; Navarro, Pau; Christoforou, Andrea; Houlihan, Lorna M; Detera-Wadleigh, Sevilla; Owen, Michael J; Asherson, Philip; Muir, Walter J; Blackwood, Douglas H R; Wray, Naomi R; Porteous, David J; Evans, Kathryn L

    2007-03-15

    Bipolar affective disorder (BPAD) and schizophrenia (SCZ) are common conditions. Their causes are unknown, but they include a substantial genetic component. Previously, we described significant linkage of BPAD to a chromosome 4p locus within a large pedigree (F22). Others subsequently have found evidence for linkage of BPAD and SCZ to this region. We constructed high-resolution haplotypes for four linked families, calculated logarithm of the odds (LOD) scores, and developed a novel method to assess the extent of allele sharing within genes between the families. We describe an increase in the F22 LOD score for this region. Definition and comparison of the linked haplotypes allowed us to prioritize two subregions of 3.8 and 4.4 Mb. Analysis of the extent of allele sharing within these subregions identified 200 kb that shows increased allele sharing between families. Linkage of BPAD to chromosome 4p has been strengthened. Haplotype analysis in the additional linked families refined the 20-Mb linkage region. Development of a novel allele-sharing method allowed us to bridge the gap between conventional linkage and association studies. Description of a 200-kb region of increased allele sharing prioritizes this region, which contains two functional candidate genes for BPAD, SLC2A9, and WDR1, for subsequent studies.

  8. Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus.

    Directory of Open Access Journals (Sweden)

    Christopher G Bell

    2010-11-01

    Full Text Available Recent multi-dimensional approaches to the study of complex disease have revealed powerful insights into how genetic and epigenetic factors may underlie their aetiopathogenesis. We examined genotype-epigenotype interactions in the context of Type 2 Diabetes (T2D, focussing on known regions of genomic susceptibility. We assayed DNA methylation in 60 females, stratified according to disease susceptibility haplotype using previously identified association loci. CpG methylation was assessed using methylated DNA immunoprecipitation on a targeted array (MeDIP-chip and absolute methylation values were estimated using a Bayesian algorithm (BATMAN. Absolute methylation levels were quantified across LD blocks, and we identified increased DNA methylation on the FTO obesity susceptibility haplotype, tagged by the rs8050136 risk allele A (p = 9.40×10(-4, permutation p = 1.0×10(-3. Further analysis across the 46 kb LD block using sliding windows localised the most significant difference to be within a 7.7 kb region (p = 1.13×10(-7. Sequence level analysis, followed by pyrosequencing validation, revealed that the methylation difference was driven by the co-ordinated phase of CpG-creating SNPs across the risk haplotype. This 7.7 kb region of haplotype-specific methylation (HSM, encapsulates a Highly Conserved Non-Coding Element (HCNE that has previously been validated as a long-range enhancer, supported by the histone H3K4me1 enhancer signature. This study demonstrates that integration of Genome-Wide Association (GWA SNP and epigenomic DNA methylation data can identify potential novel genotype-epigenotype interactions within disease-associated loci, thus providing a novel route to aid unravelling common complex diseases.

  9. Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

    Science.gov (United States)

    von Salomé, Jenny; Liu, Tao; Keihäs, Markku; Morak, Moni; Holinski-Feder, Elke; Berry, Ian R; Moilanen, Jukka S; Baert-Desurmont, Stéphanie; Lindblom, Annika; Lagerstedt-Robinson, Kristina

    2017-12-29

    Lynch syndrome (LS) predisposes to a spectrum of cancers and increases the lifetime risk of developing colorectal- or endometrial cancer to over 50%. Lynch syndrome is dominantly inherited and is caused by defects in DNA mismatch-repair genes MLH1, MSH2, MSH6 or PMS2, with the vast majority detected in MLH1 and MSH2. Recurrent LS-associated variants observed in apparently unrelated individuals, have either arisen de novo in different families due to mutation hotspots, or are inherited from a founder (a common ancestor) that lived several generations back. There are variants that recur in some populations while also acting as founders in other ethnic groups. Testing for founder mutations can facilitate molecular diagnosis of Lynch Syndrome more efficiently and more cost effective than screening for all possible mutations. Here we report a study of the missense mutation MLH1 c.2059C > T (p.Arg687Trp), a potential founder mutation identified in eight Swedish families and one Finnish family with Swedish ancestors. Haplotype analysis confirmed that the Finnish and Swedish families shared a haplotype of between 0.9 and 2.8 Mb. While MLH1 c.2059C > T exists worldwide, the Swedish haplotype was not found among mutation carriers from Germany or France, which indicates a common founder in the Swedish population. The geographic distribution of MLH1 c.2059C > T in Sweden suggests a single, ancient mutational event in the northern part of Sweden.

  10. Haplotyping, linkage mapping and expression analysis of barley genes regulated by terminal drought stress influencing seed quality

    Directory of Open Access Journals (Sweden)

    Wobus Ulrich

    2011-01-01

    Full Text Available Abstract Background The increasingly narrow genetic background characteristic of modern crop germplasm presents a challenge for the breeding of cultivars that require adaptation to the anticipated change in climate. Thus, high priority research aims at the identification of relevant allelic variation present both in the crop itself as well as in its progenitors. This study is based on the characterization of genetic variation in barley, with a view to enhancing its response to terminal drought stress. Results The expression patterns of drought regulated genes were monitored during plant ontogeny, mapped and the location of these genes was incorporated into a comprehensive barley SNP linkage map. Haplotypes within a set of 17 starch biosynthesis/degradation genes were defined, and a particularly high level of haplotype variation was uncovered in the genes encoding sucrose synthase (types I and II and starch synthase. The ability of a panel of 50 barley accessions to maintain grain starch content under terminal drought conditions was explored. Conclusion The linkage/expression map is an informative resource in the context of characterizing the response of barley to drought stress. The high level of haplotype variation among starch biosynthesis/degradation genes in the progenitors of cultivated barley shows that domestication and breeding have greatly eroded their allelic diversity in current elite cultivars. Prospective association analysis based on core drought-regulated genes may simplify the process of identifying favourable alleles, and help to understand the genetic basis of the response to terminal drought.

  11. Detailed inelastic analysis of an LMFBR pipeline

    International Nuclear Information System (INIS)

    Hibbitt, H.D.; Leung, E.K.; Ohalla, A.K.

    1982-01-01

    The paper describes detailed inelastic analyses of a large diameter, thin walled pipeline configuration typical of liquid metal cooled reactor primary piping, subject to thermal shock, with intermediate periods of creep hold time. Three such analyses are compared. Two of these analyses are performed with recently developed elements based on a combination of Fourier and polynomial interpolation to describe the deformation of the pipe. One of these two analyses includes continuous deformation of the pipe wall between each elbow and the adjacent straight pipe segments, while the other neglects such ''end effects'' on the elbow deformation. The third analysis is based on a modified axi-symmetric shell element for modeling the elbows (neglecting and effects). The results thus provide an assessment of the relative cost and importance of including consideration of end effects in modeling a realistic piping system, as well as providing a similar comparison between the two basic deforming section pipe models (Fourier/polynomial versus modified axi-symmetric shells)

  12. Major soybean maturity gene haplotypes revealed by SNPViz analysis of 72 sequenced soybean genomes.

    Directory of Open Access Journals (Sweden)

    Tiffany Langewisch

    Full Text Available In this Genomics Era, vast amounts of next-generation sequencing data have become publicly available for multiple genomes across hundreds of species. Analyses of these large-scale datasets can become cumbersome, especially when comparing nucleotide polymorphisms across many samples within a dataset and among different datasets or organisms. To facilitate the exploration of allelic variation and diversity, we have developed and deployed an in-house computer software to categorize and visualize these haplotypes. The SNPViz software enables users to analyze region-specific haplotypes from single nucleotide polymorphism (SNP datasets for different sequenced genomes. The examination of allelic variation and diversity of important soybean [Glycine max (L. Merr.] flowering time and maturity genes may provide additional insight into flowering time regulation and enhance researchers' ability to target soybean breeding for particular environments. For this study, we utilized two available soybean genomic datasets for a total of 72 soybean genotypes encompassing cultivars, landraces, and the wild species Glycine soja. The major soybean maturity genes E1, E2, E3, and E4 along with the Dt1 gene for plant growth architecture were analyzed in an effort to determine the number of major haplotypes for each gene, to evaluate the consistency of the haplotypes with characterized variant alleles, and to identify evidence of artificial selection. The results indicated classification of a small number of predominant haplogroups for each gene and important insights into possible allelic diversity for each gene within the context of known causative mutations. The software has both a stand-alone and web-based version and can be used to analyze other genes, examine additional soybean datasets, and view similar genome sequence and SNP datasets from other species.

  13. [The haplomatch program for comparing Y-chromosome STR-haplotypes and its application to the analysis of the origin of Don Cossacks].

    Science.gov (United States)

    Chukhryaeva, M I; Ivanov, I O; Frolova, S A; Koshel, S M; Utevska, O M; Skhalyakho, R A; Agdzhoyan, A T; Bogunov, Yu V; Balanovska, E V; Balanovsky, O P

    2016-05-01

    STR haplotypes of the Y chromosome are widely used as effective genetic markers in studies of human populations and in forensic DNA analysis. The task often arises to compare the spectrum of haplotypes in individuals or entire populations. Performing this task manually is too laborious and thus unrealistic. We propose an algorithm for counting similarity between STR haplotypes. This algorithm is suitable for massive analyses of samples. It is implemented in the computer program Haplomatch, which makes it possible to find haplotypes that differ from the target haplotype by 0, 1, 2, 3, or more mutational steps. The program may operate in two modes: comparison of individuals and comparison of populations. Flexibility of the program (the possibility of using any external database), its usability (MS Excel spreadsheets are used), and the capability of being applied to other chromosomes and other species could make this software a new useful tool in population genetics and forensic and genealogical studies. The Haplomatch software is freely available on our website www.genofond.ru. The program is applied to studying the gene pool of Cossacks. Experimental analysis of Y-chromosomal diversity in a representative set (N = 131) of Upper Don Cossacks is performed. Analysis of the STR haplotypes detects genetic proximity of Cossacks to East Slavic populations (in particular, to Southern and Central Russians, as well as to Ukrainians), which confirms the hypothesis of the origin of the Cossacks mainly due to immigration from Russia and Ukraine. Also, a small genetic influence of Turkicspeaking Nogais is found, probably caused by their occurrence in the Don Voisko as part of the Tatar layer. No similarities between haplotype spectra of Cossacks and Caucasus populations are found. This case study demonstrates the effectiveness of the Haplomatch software in analyzing large sets of STR haplotypes.

  14. Haplotyping Problem, A Clustering Approach

    International Nuclear Information System (INIS)

    Eslahchi, Changiz; Sadeghi, Mehdi; Pezeshk, Hamid; Kargar, Mehdi; Poormohammadi, Hadi

    2007-01-01

    Construction of two haplotypes from a set of Single Nucleotide Polymorphism (SNP) fragments is called haplotype reconstruction problem. One of the most popular computational model for this problem is Minimum Error Correction (MEC). Since MEC is an NP-hard problem, here we propose a novel heuristic algorithm based on clustering analysis in data mining for haplotype reconstruction problem. Based on hamming distance and similarity between two fragments, our iterative algorithm produces two clusters of fragments; then, in each iteration, the algorithm assigns a fragment to one of the clusters. Our results suggest that the algorithm has less reconstruction error rate in comparison with other algorithms

  15. Association analysis of calpain 10 gene variants/haplotypes with gestational diabetes mellitus among Mexican women.

    Science.gov (United States)

    Castro-Martínez, Anna Gabriela; Sánchez-Corona, José; Vázquez-Vargas, Adriana Patricia; García-Zapién, Alejandra Guadalupe; López-Quintero, Andres; Villalpando-Velazco, Héctor Javier; Flores-Martínez, Silvia Esperanza

    2018-02-28

    Gestational diabetes mellitus (GDM) is a metabolically complex disease with major genetic determinants. GDM has been associated with insulin resistance and dysfunction of pancreatic beta cells, so the GDM candidate genes are those that encode proteins modulating the function and secretion of insulin, such as that for calpain 10 (CAPN10). This study aimed to assess whether single nucleotide polymorphism (SNP)-43, SNP-44, SNP-63, and the indel-19 variant, and specific haplotypes of the CAPN10 gene were associated with gestational diabetes mellitus. We studied 116 patients with gestational diabetes mellitus and 83 women with normal glucose tolerance. Measurements of anthropometric and biochemical parameters were performed. SNP-43, SNP-44, and SNP-63 were identified by polymerase chain reaction (PCR)-restriction fragment length polymorphisms, while the indel-19 variant was detected by TaqMan qPCR assays.  The allele, genotype, and haplotype frequencies of the four variants did not differ significantly between women with gestational diabetes mellitus and controls. However, in women with gestational diabetes mellitus, glucose levels were significantly higher bearing the 3R/3R genotype than in carriers of the 3R/2R genotype of the indel-19 variant (p = 0.006). In conclusion, the 3R/3R genotype of the indel-19 variant of the CAPN-10 gene influenced increased glucose levels in these Mexican women with gestational diabetes mellitus.

  16. Analysis of 24 Y chromosomal STR haplotypes in a Chinese Han population sample from Henan Province, Central China.

    Science.gov (United States)

    Shi, Meisen; Liu, Yaju; Zhang, Juntao; Bai, Rufeng; Lv, Xiaojiao; Ma, Shuhua

    2015-07-01

    We analyzed haplotypes for 24 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and 7 additional STRs (DYS388, DYS444, DYS447, DYS449, DYS522 and DYS527a/b) in 1100 unrelated Chinese Han individuals from Henan Province using AGCU Y24 STR kit systems. The calculated average gene diversity (GD) values ranged from 0.4105 to 0.9647 for the DYS388 and DYS385a/b loci, respectively. The discriminatory capacity (DC) was 72.91% with 802 observed haplotypes using 17 Yfiler loci, by the addition of 7 Y-STRs to the Yfiler system, the DC was increased to 79.09% while showing 870 observed haplotypes. Among the additional 7 Y-STRs, DYS449, DYS527a/b, DYS444 and DYS522 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Henan Han population clustered with Han origin populations and showed significant differences from other Non-Han populations. In the present study, we report 24 Y-STR population data in Henan Han population, and we emphasize the need for adding additional markers to the commonly used 17 Yfiler loci to achieve more improved discriminatory capacity in a population with low genetic diversity. Copyright © 2015. Published by Elsevier Ireland Ltd.

  17. Mapping Haplotype-haplotype Interactions with Adaptive LASSO

    Directory of Open Access Journals (Sweden)

    Li Ming

    2010-08-01

    Full Text Available Abstract Background The genetic etiology of complex diseases in human has been commonly viewed as a complex process involving both genetic and environmental factors functioning in a complicated manner. Quite often the interactions among genetic variants play major roles in determining the susceptibility of an individual to a particular disease. Statistical methods for modeling interactions underlying complex diseases between single genetic variants (e.g. single nucleotide polymorphisms or SNPs have been extensively studied. Recently, haplotype-based analysis has gained its popularity among genetic association studies. When multiple sequence or haplotype interactions are involved in determining an individual's susceptibility to a disease, it presents daunting challenges in statistical modeling and testing of the interaction effects, largely due to the complicated higher order epistatic complexity. Results In this article, we propose a new strategy in modeling haplotype-haplotype interactions under the penalized logistic regression framework with adaptive L1-penalty. We consider interactions of sequence variants between haplotype blocks. The adaptive L1-penalty allows simultaneous effect estimation and variable selection in a single model. We propose a new parameter estimation method which estimates and selects parameters by the modified Gauss-Seidel method nested within the EM algorithm. Simulation studies show that it has low false positive rate and reasonable power in detecting haplotype interactions. The method is applied to test haplotype interactions involved in mother and offspring genome in a small for gestational age (SGA neonates data set, and significant interactions between different genomes are detected. Conclusions As demonstrated by the simulation studies and real data analysis, the approach developed provides an efficient tool for the modeling and testing of haplotype interactions. The implementation of the method in R codes can be

  18. OPIC Greenhouse Gas Emissions Analysis Details

    Data.gov (United States)

    Overseas Private Investment Corporation — Summary project inventory with independent analysis to quantify the greenhouse gas ("GHG") emissions directly attributable to projects to which the Overseas Private...

  19. The PEC reactor. Safety analysis: Detailed reports

    Energy Technology Data Exchange (ETDEWEB)

    1988-01-01

    In the safety-analysis of the PEC Brasimone reactor (Italy), attention was focused on the role of plant-incident analysis during the design stage and the conclusions reached. The analysis regarded the following: thermohydraulic incidents at full power; incidents with the reactor shut down; reactivity incidents; core local faults; analysis of fuel-handling incidents; engineered safeguards and passive safety features; coolant leakage and sodium fires; research and development studies on the seismic behaviour of the PEC fast reactor; generalized sodium fire; severe accidents, accident sequences with shudown; reference accident. Both the theoretical and experimental analyses demonstrated the adequacy of the design of the PEC fast reactor, aimed at minimizing the consequences of a hypothetical disruptive core accident with mechanical energy release. It was shown that the containment barriers were sized correctly and that the residual heat from a disassembled core would be removed. The re-evaluation of the source term emphasized the conservative nature of the hypotheses assumed in the preliminary safety analysis for calculating the risk to the public.

  20. Detailed heart rate variability analysis in athletes.

    Science.gov (United States)

    Kiss, Orsolya; Sydó, Nóra; Vargha, Péter; Vágó, Hajnalka; Czimbalmos, Csilla; Édes, Eszter; Zima, Endre; Apponyi, Györgyi; Merkely, Gergő; Sydó, Tibor; Becker, Dávid; Allison, Thomas G; Merkely, Béla

    2016-08-01

    Heart rate variability (HRV) analysis has been used to evaluate patients with various cardiovascular diseases. While the vast majority of HRV studies have focused on pathological states, our study focuses on the less explored area of HRV analysis across different training intensity and sports. We aimed to measure HRV in healthy elite and masters athletes and compare to healthy, but non-athletic controls. Time-domain HRV analysis was applied in 138 athletes (male 110, age 28.4 ± 8.3) and 100 controls (male 56, age 28.3 ± 6.9) during Holter monitoring (21.3 ± 3.0 h). All studied parameters were higher in elite athletes compared to controls [SDNN (CI) 225.3 (216.2-234.5) vs 158.6 (150.2-167.1) ms; SDNN Index (CI) 99.6 (95.6-103.7) vs 72.4 (68.7-76.2) ms; pNN50 (CI) 24.2 (22.2-26.3) vs 14.4 (12.7-16.3) %; RMSSD (CI) 71.8 (67.6-76.2) vs 50.8 (46.9-54.8) ms; p HRV values than controls, but no significant differences were found between elite athletes and masters athletes. Some parameters were higher in canoeists-kayakers and bicyclists than runners. Lower cut-off values in elite athletes were SDNN: 147.4 ms, SDNN Index: 66.6 ms, pNN50: 9.7 %, RMSSD: 37.9 ms. Autonomic regulation in elite athletes described with HRV is significantly different than in healthy controls. Sports modality and level of performance, but not age- or sex-influenced HRV. Our study provides athletic normal HRV values. Further investigations are needed to determine its role in risk stratification, optimization of training, or identifying overtraining.

  1. Detailed Analysis of ECMWF Surface Pressure Data

    Science.gov (United States)

    Fagiolini, E.; Schmidt, T.; Schwarz, G.; Zenner, L.

    2012-04-01

    Investigations of temporal variations within the gravity field of the Earth led us to the analysis of common surface pressure data products delivered by ECMWF. We looked into the characteristics of global as well as spatially and temporally confined phenomena being visible in the data. In particular, we were interested in the overall data quality, the local and temporal signal-to-noise ratio of surface pressure data sets, and the identification of irregular data. To this end, we analyzed a time series of a full year of surface pressure operational analysis data and their nominal standard deviations. The use of pressure data on a Gaussian grid data allowed us to remain close to the internal computations at ECMWF during data assimilation. Thus, we circumvented potential interpolation effects that would otherwise occur in cylindrical projections of conventional map products. The results obtained by us demonstrate the identification of a few distinct outliers, data quality effects over land or water and along coastlines as well as neighborhood effects of samples within and outside of the tropics. Small scale neighborhood effects depend on their geographical direction, sampling distance, land or water, and local time. In addition, one notices large scale seasonal effects that are latitude and longitude dependent. As a consequence, we obtain a cause-and-effect survey of pressure data peculiarities. One can then use background corrected pressure data to analyze seasonal effects within given latitude belts. Here time series of pressure data allow the tracking of high and low pressure areas together with the identification of their actual extent, velocity and life time. This information is vital to overall mass transport calculations and the determination of temporally varying gravity fields. However, one has to note that the satellite and ground-based instruments and the assimilation software being used for the pressure calculations will not remain the same over the years

  2. Allelic variation of the inducible costimulator (ICOS) gene: detection of polymorphisms, analysis of the promoter region, and extended haplotype estimation

    DEFF Research Database (Denmark)

    Andersen, A.D.H.; Lange, Marianne; Lillevang, S.T.

    2003-01-01

    The human chromosome region 2q33 including the three costimulatory molecules CD28, CTLA-4 and ICOS, has been subject to much attention due to its linkage to a number of autoimmune diseases. The search for the causal relationship of this linkage has revealed several polymorphisms, but no variations...... in the amino acid sequences except for one polymorphism in, the leader sequence of CTLA-4. In the present study, we examined the ICOS gene of an unrelated group of healthy donors from the Danish population. We were able to report 16 intronic SNP, one intronic G-insert and two repeat regions in intron 4......, consistent with the [T](n) and the [GT](n) regions reported in a Japanese study. Putative haplotypes for the established SNP and repeat polymorphisms have been estimated by computational analysis. Sequencing of similar to3500 by of the upstream region of ICOS revealed an additional eight SNP of which two...

  3. Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

    Science.gov (United States)

    Mikhailova, S V; Babenko, V N; Ivanoshchuk, D E; Gubina, M A; Maksimov, V N; Solovjova, I G; Voevoda, M I

    2016-06-17

    Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis. We assumed that analysis of Caucasoid patients-living now in Western Siberia and having diseases associated with dietary habits and metabolic rate-will allow us to understand the processes of possible selection during settling of the northern part of Asia. Haplotype analysis of Northern Eurasian native and recently settled ethnic groups was performed on polymorphisms rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, rs1572982, rs2794719, rs807209, and rs2032451 of this gene. The CCA haplotype of the rs2071303, rs1800708, and rs1572982 was found to be associated with HLA-A2 (39 %) in Asian populations. Haplotype analysis for the rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, and rs1572982 was performed on Russian patients with some metabolic disorders or stomach cancer and among long-lived people. Decreased frequencies of the TTA haplotype (T in rs2071303, T in rs1800708, and A in rs1572982) were observed in the groups of patients with diseases associated with overweight (fatty liver disease, type 2 diabetes mellitus, or metabolic syndrome + arterial hypertension) as compared with the control sample. We detected significant differences in this haplotype's frequency between the patients with type 2 diabetes mellitus and Russian adolescents, elderly citizens, and long-lived people (χ(2) P value = 0.003, 0.010, and 0.015, respectively). No significant differences in frequencies of the alleles with mutations in coding regions of the HFE gene (C282Y, H63D, and S65C) were detected between the analyzed patients (with stomach cancer, metabolic syndrome, fatty liver disease, or type 2 diabetes mellitus) and the control Caucasoid sample. Monophyletic origin of H63D (rs1799945) was confirmed in Caucasoids and Northern

  4. Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.

    Directory of Open Access Journals (Sweden)

    Eric C Wooten

    2010-01-01

    Full Text Available Bicuspid Aortic Valve (BAV is a highly heritable congenital heart defect. The low frequency of BAV (1% of general population limits our ability to perform genome-wide association studies. We present the application of four a priori SNP selection techniques, reducing the multiple-testing penalty by restricting analysis to SNPs relevant to BAV in a genome-wide SNP dataset from a cohort of 68 BAV probands and 830 control subjects. Two knowledge-based approaches, CANDID and STRING, were used to systematically identify BAV genes, and their SNPs, from the published literature, microarray expression studies and a genome scan. We additionally tested Functionally Interpolating SNPs (fitSNPs present on the array; the fourth consisted of SNPs selected by Random Forests, a machine learning approach. These approaches reduced the multiple testing penalty by lowering the fraction of the genome probed to 0.19% of the total, while increasing the likelihood of studying SNPs within relevant BAV genes and pathways. Three loci were identified by CANDID, STRING, and fitSNPS. A haplotype within the AXIN1-PDIA2 locus (p-value of 2.926x10(-06 and a haplotype within the Endoglin gene (p-value of 5.881x10(-04 were found to be strongly associated with BAV. The Random Forests approach identified a SNP on chromosome 3 in association with BAV (p-value 5.061x10(-06. The results presented here support an important role for genetic variants in BAV and provide support for additional studies in well-powered cohorts. Further, these studies demonstrate that leveraging existing expression and genomic data in the context of GWAS studies can identify biologically relevant genes and pathways associated with a congenital heart defect.

  5. Meta-analysis reveals association between most common class II haplotype in full-heritage Native Americans and rheumatoid arthritis.

    Science.gov (United States)

    Williams, R C; Jacobsson, L T; Knowler, W C; del Puente, A; Kostyu, D; McAuley, J E; Bennett, P H; Pettitt, D J

    1995-01-01

    The association of RA with the alleles at the HLA system was tested among Pima and Tohono O'odham Indians (Pimans) of the Gila River Indian Community of Arizona. Serologic class I (HLA-A, -B, and -C) alleles were typed in 51 individuals with RA and in 302 without RA. Serologic class II (HLA-DR, DQ; DR52 DR53) alleles were typed in a subset of 47 with RA and 147 without RA. Molecular subtypes of DR3X6, DRB1*1402, and *1406 were determined in 29 individuals, 16 with RA and 13 without RA. Among the cases with RA, 46 of 47 had the serologic antigen HLA-DR3X6, as did 140 of 147 of those without the disease. However, this association was not statistically significant because of the high prevalence of the antigen in the controls. Data from Pimans were analyzed with similar results from the Tlingit and Yakima Indians. A meta-analysis employing the Mantel-Haenszel procedure, stratified by tribe, revealed a statistically significant association between the most common haplotype, DRB1*1402 DQA1*0501 DQB1*0301 DRB3*0101, and RA (summary odds ratio = 2.63, 95% confidence interval = 1.08, 6.46). There was also a statistically significant difference in the genotype distributions of one class I locus, HLA-C, between those with and without RA (chi 2 = 12.4, 5 df; p = 0.03). It is concluded that the association with the most common class II haplotype in full-heritage Native Americans might help explain their high prevalence of RA.

  6. Haplotype-based association analysis of general cognitive ability in Generation Scotland, the English Longitudinal Study of Ageing, and UK Biobank [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    David M. Howard

    2017-08-01

    Full Text Available Background: Cognitive ability is a heritable trait with a polygenic architecture, for which several associated variants have been identified using genotype-based and candidate gene approaches. Haplotype-based analyses are a complementary technique that take phased genotype data into account, and potentially provide greater statistical power to detect lower frequency variants. Methods: In the present analysis, three cohort studies (ntotal = 48,002 were utilised: Generation Scotland: Scottish Family Health Study (GS:SFHS, the English Longitudinal Study of Ageing (ELSA, and the UK Biobank. A genome-wide haplotype-based meta-analysis of cognitive ability was performed, as well as a targeted meta-analysis of several gene coding regions. Results: None of the assessed haplotypes provided evidence of a statistically significant association with cognitive ability in either the individual cohorts or the meta-analysis. Within the meta-analysis, the haplotype with the lowest observed P-value overlapped with the D-amino acid oxidase activator (DAOA gene coding region. This coding region has previously been associated with bipolar disorder, schizophrenia and Alzheimer’s disease, which have all been shown to impact upon cognitive ability. Another potentially interesting region highlighted within the current genome-wide association analysis (GS:SFHS: P = 4.09 x 10-7, was the butyrylcholinesterase (BCHE gene coding region. The protein encoded by BCHE has been shown to influence the progression of Alzheimer’s disease and its role in cognitive ability merits further investigation. Conclusions: Although no evidence was found for any haplotypes with a statistically significant association with cognitive ability, our results did provide further evidence that the genetic variants contributing to the variance of cognitive ability are likely to be of small effect.

  7. A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes

    Science.gov (United States)

    Cruciani, Fulvio; Santolamazza, Piero; Shen, Peidong; Macaulay, Vincent; Moral, Pedro; Olckers, Antonel; Modiano, David; Holmes, Susan; Destro-Bisol, Giovanni; Coia, Valentina; Wallace, Douglas C.; Oefner, Peter J.; Torroni, Antonio; Cavalli-Sforza, L. Luca; Scozzari, Rosaria; Underhill, Peter A.

    2002-01-01

    The variation of 77 biallelic sites located in the nonrecombining portion of the Y chromosome was examined in 608 male subjects from 22 African populations. This survey revealed a total of 37 binary haplotypes, which were combined with microsatellite polymorphism data to evaluate internal diversities and to estimate coalescence ages of the binary haplotypes. The majority of binary haplotypes showed a nonuniform distribution across the continent. Analysis of molecular variance detected a high level of interpopulation diversity (ΦST=0.342), which appears to be partially related to the geography (ΦCT=0.230). In sub-Saharan Africa, the recent spread of a set of haplotypes partially erased pre-existing diversity, but a high level of population (ΦST=0.332) and geographic (ΦCT=0.179) structuring persists. Correspondence analysis shows that three main clusters of populations can be identified: northern, eastern, and sub-Saharan Africans. Among the latter, the Khoisan, the Pygmies, and the northern Cameroonians are clearly distinct from a tight cluster formed by the Niger-Congo–speaking populations from western, central western, and southern Africa. Phylogeographic analyses suggest that a large component of the present Khoisan gene pool is eastern African in origin and that Asia was the source of a back migration to sub-Saharan Africa. Haplogroup IX Y chromosomes appear to have been involved in such a migration, the traces of which can now be observed mostly in northern Cameroon. PMID:11910562

  8. Comparative sequence analysis of the potato cyst nematode resistance locus H1 reveals a major lack of co-linearity between three haplotypes in potato (Solanum tuberosum ssp.).

    Science.gov (United States)

    Finkers-Tomczak, Anna; Bakker, Erin; de Boer, Jan; van der Vossen, Edwin; Achenbach, Ute; Golas, Tomasz; Suryaningrat, Suwardi; Smant, Geert; Bakker, Jaap; Goverse, Aska

    2011-02-01

    The H1 locus confers resistance to the potato cyst nematode Globodera rostochiensis pathotypes 1 and 4. It is positioned at the distal end of chromosome V of the diploid Solanum tuberosum genotype SH83-92-488 (SH) on an introgression segment derived from S. tuberosum ssp. andigena. Markers from a high-resolution genetic map of the H1 locus (Bakker et al. in Theor Appl Genet 109:146-152, 2004) were used to screen a BAC library to construct a physical map covering a 341-kb region of the resistant haplotype coming from SH. For comparison, physical maps were also generated of the two haplotypes from the diploid susceptible genotype RH89-039-16 (S. tuberosum ssp. tuberosum/S. phureja), spanning syntenic regions of 700 and 319 kb. Gene predictions on the genomic segments resulted in the identification of a large cluster consisting of variable numbers of the CC-NB-LRR type of R genes for each haplotype. Furthermore, the regions were interspersed with numerous transposable elements and genes coding for an extensin-like protein and an amino acid transporter. Comparative analysis revealed a major lack of gene order conservation in the sequences of the three closely related haplotypes. Our data provide insight in the evolutionary mechanisms shaping the H1 locus and will facilitate the map-based cloning of the H1 resistance gene.

  9. Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study.

    Science.gov (United States)

    Hardi, Hanaa; Melki, Rahma; Boughaleb, Zouhour; El Harroudi, Tijani; Aissaoui, Souria; Boukhatem, Noureddine

    2018-03-15

    Genetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic susceptibility to breast cancer in Moroccan population. We genotyped ERCC2 polymorphisms (rs1799793 (G934A) and rs13181 (A2251C)) and MTHFR polymorphisms (rs1801133 (C677T) and rs1801131 (A1298C)) using TaqMan SNP Genotyping Assays. Genotypes were compared in 151 BC cases and 156 population-matched controls. Allelic, genotypic and haplotype associations with the risk and clinicopathological features of BC were assessed using logistic regression analyses. ERCC2-rs1799793-AA genotype was associated with high risk of BC compared to wild type genotype (recessive model: OR: 2.90, 95% CI: 1.34-6.26, p = 0.0069) even after Bonferroni correction (p < 0,0125). MTHFR rs1801133-TT genotype was associated with increased risk of BC (recessive model, OR: 2.49, 95% CI: 1.17-5.29, p = 0.017) but the association turned insignificant after Bonferroni correction. For the rest of SNPs, no statistical associations to BC risk were detected. Significant association with clinical features was detected for MTHFR-rs1801133-TC genotype with early age at diagnosis and familial BC. Following Bonferroni correction, only association with familial BC remained significant. MTHFR-rs1801131-CC genotype was associated with sporadic BC. ERCC2-rs1799793-AA genotype correlated with ER+ and PR+ breast cancer. ERCC2-rs13181-CA genotype was significantly associated large tumors (T ≥ 3) in BC patients. None of these associations passed Bonferroni correction. Haplotype analysis showed that ERCC2 A-C haplotype was significantly associated with increased BC risk (OR: 3.71, 95% CI: 1.7-8.12, p = 0.0002 and p = 0.0008 before and after Bonferroni correction, respectively) and positive expression of ER and PR in BC patients. ERCC2 G-C haplotype was correlated with PR negative and

  10. Population haplotype analysis and evolutionary relations of the COL2A1 gene

    NARCIS (Netherlands)

    Meulenbelt, I.; Williams, G.J.; Koppele, J.M.T.E.; Giessen, G.C.D.E. van; Slagboom, P.E.

    1996-01-01

    We have determined the allele frequencies mad pairwise linkage disequilibria of restriction fragment length polymorphisms (RFLPs) distributed over the entire COL2A1 gene (spanning 23 · 6 kb) in a population of unrelated Dutch Caucasians. Pairwise linkage disequilibrium analysis of RFLP sites between

  11. Analysis of associations between major histocompatibility complex (BoLA) class I haplotypes and subclinical mastitis of dairy cows

    DEFF Research Database (Denmark)

    Aarestrup, Frank Møller; Jensen, N. E.; Østergård, H.

    1995-01-01

    The associations between BoLA class I haplotypes and subclinical mastitis were investigated using information on 333 cows from three different breeds and crossbreeds from 14 dairy herds in Denmark. Somatic cell count and bacteriological status were used as markers for subclinical mastitis....... Associations between BoLA class I haplotypes and IMI status were also determined. The association between BoLA class I haplotypes and subclinical mastitis was weak. The A10(W50), A11, A12(A30), A16, A19(A6), A21, A26, and A31(A30) alleles were associated with different markers of subclinical mastitis....... Susceptibility or resistance to the two bacteria categories was associated with different alleles. This study indicated that BoLA antigens may be involved in resistance to mastitis and that resistance may be specific for a particular pathogen....

  12. Haplotype Analysis Discriminates Genetic Risk for DR3-Associated Endocrine Autoimmunity and Helps Define Extreme Risk for Addison’s Disease

    Science.gov (United States)

    Baker, Peter R.; Baschal, Erin E.; Fain, Pam R.; Triolo, Taylor M.; Nanduri, Priyaanka; Siebert, Janet C.; Armstrong, Taylor K.; Babu, Sunanda R.; Rewers, Marian J.; Gottlieb, Peter A.; Barker, Jennifer M.; Eisenbarth, George S.

    2010-01-01

    Context: Multiple autoimmune disorders (e.g. Addison’s disease, type 1 diabetes, celiac disease) are associated with HLA-DR3, but it is likely that alleles of additional genes in linkage disequilibrium with HLA-DRB1 contribute to disease. Objective: The objective of the study was to characterize major histocompatability complex (MHC) haplotypes conferring extreme risk for autoimmune Addison’s disease (AD). Design, Setting, and Participants: Eighty-six 21-hydroxylase autoantibody-positive, nonautoimmune polyendocrine syndrome type 1, Caucasian individuals collected from 1992 to 2009 with clinical AD from 68 families (12 multiplex and 56 simplex) were genotyped for HLA-DRB1, HLA-DQB1, MICA, HLA-B, and HLA-A as well as high density MHC single-nucleotide polymorphism (SNP) analysis for 34. Main Outcome Measures: AD and genotype were measured. Result: Ninety-seven percent of the multiplex individuals had both HLA-DR3 and HLA-B8 vs. 60% of simplex AD patients (P = 9.72 × 10−4) and 13% of general population controls (P = 3.00 × 10−19). The genotype DR3/DR4 with B8 was present in 85% of AD multiplex patients, 24% of simplex patients, and 1.5% of control individuals (P = 4.92 × 10−191). The DR3-B8 haplotype of AD patients had HLA-A1 less often (47%) than controls (81%, P = 7.00 × 10−5) and type 1 diabetes patients (73%, P = 1.93 × 10−3). Analysis of 1228 SNPs across the MHC for individuals with AD revealed a shorter conserved haplotype (3.8) with the loss of the extended conserved 3.8.1 haplotype approximately halfway between HLA-B and HLA-A. Conclusion: Extreme risk for AD, especially in multiplex families, is associated with haplotypic DR3 variants, in particular a portion (3.8) but not all of the conserved 3.8.1 haplotype. PMID:20631027

  13. Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent

    International Nuclear Information System (INIS)

    Cavallone, Luca; Arcand, Suzanna L; Maugard, Christine; Ghadirian, Parviz; Mes-Masson, Anne-Marie; Provencher, Diane; Tonin, Patricia N

    2008-01-01

    small sample size did not permit analysis of all possible haplotypes, we observed that BRCA2 mutation carriers harboring the Ins16minus-72Arg haplotype had a significantly younger mean age of diagnosis of breast cancer. These observations suggest that investigations in a larger French Canadian sample are warranted to further elucidate the effects of TP53 variants on age of diagnosis of breast cancer among BRCA1 and BRCA2 mutation carriers

  14. Analysis of local influences in structural details of the bridges

    Directory of Open Access Journals (Sweden)

    Adam RUDZIK

    2015-03-01

    Full Text Available The article analyses the problems of local influences in structural details of bridges as the critical locations, whose damages or excessive force may directly affect the safety of users. These analyses are shown on selected examples. Presented is the example of local changes in the forms of proper vibrations in the node of the truss bridge that can be used in expert issues concerning the causes of damages. The second example are the changes in stresses in the stay cable anchorage element including the nonlinear material models. Models of this type can be successfully used by engineers as they allow for analysis of selected structural details without the need for detailed mapping of the entire structure, but only a selected section.

  15. Haplotype Analysis of the Pre-harvest Sprouting Resistance Locus Phs-A1 Reveals a Causal Role of TaMKK3-A in Global Germplasm.

    Science.gov (United States)

    Shorinola, Oluwaseyi; Balcárková, Barbara; Hyles, Jessica; Tibbits, Josquin F G; Hayden, Matthew J; Holušova, Katarina; Valárik, Miroslav; Distelfeld, Assaf; Torada, Atsushi; Barrero, Jose M; Uauy, Cristobal

    2017-01-01

    Pre-harvest sprouting (PHS) is an important cause of quality loss in many cereal crops and is particularly prevalent and damaging in wheat. Resistance to PHS is therefore a valuable target trait in many breeding programs. The Phs-A1 locus on wheat chromosome arm 4AL has been consistently shown to account for a significant proportion of natural variation to PHS in diverse mapping populations. However, the deployment of sprouting resistance is confounded by the fact that different candidate genes, including the tandem duplicated Plasma Membrane 19 ( PM19 ) genes and the mitogen-activated protein kinase kinase 3 ( TaMKK3-A) gene, have been proposed to underlie Phs-A1 . To further define the Phs-A1 locus, we constructed a physical map across this interval in hexaploid and tetraploid wheat. We established close proximity of the proposed candidate genes which are located within a 1.2 Mb interval. Genetic characterization of diverse germplasm used in previous genetic mapping studies suggests that TaMKK3-A , and not PM19 , is the major gene underlying the Phs-A1 effect in European, North American, Australian and Asian germplasm. We identified the non-dormant TaMKK3-A allele at low frequencies within the A-genome diploid progenitor Triticum urartu genepool, and show an increase in the allele frequency in modern varieties. In United Kingdom varieties, the frequency of the dormant TaMKK3-A allele was significantly higher in bread-making quality varieties compared to feed and biscuit-making cultivars. Analysis of exome capture data from 58 diverse hexaploid wheat accessions identified fourteen haplotypes across the extended Phs-A1 locus and four haplotypes for TaMKK3-A . Analysis of these haplotypes in a collection of United Kingdom and Australian cultivars revealed distinct major dormant and non-dormant Phs-A1 haplotypes in each country, which were either rare or absent in the opposing germplasm set. The diagnostic markers and haplotype information reported in the study will

  16. Haplotype Analysis of the Pre-harvest Sprouting Resistance Locus Phs-A1 Reveals a Causal Role of TaMKK3-A in Global Germplasm

    Directory of Open Access Journals (Sweden)

    Oluwaseyi Shorinola

    2017-09-01

    Full Text Available Pre-harvest sprouting (PHS is an important cause of quality loss in many cereal crops and is particularly prevalent and damaging in wheat. Resistance to PHS is therefore a valuable target trait in many breeding programs. The Phs-A1 locus on wheat chromosome arm 4AL has been consistently shown to account for a significant proportion of natural variation to PHS in diverse mapping populations. However, the deployment of sprouting resistance is confounded by the fact that different candidate genes, including the tandem duplicated Plasma Membrane 19 (PM19 genes and the mitogen-activated protein kinase kinase 3 (TaMKK3-A gene, have been proposed to underlie Phs-A1. To further define the Phs-A1 locus, we constructed a physical map across this interval in hexaploid and tetraploid wheat. We established close proximity of the proposed candidate genes which are located within a 1.2 Mb interval. Genetic characterization of diverse germplasm used in previous genetic mapping studies suggests that TaMKK3-A, and not PM19, is the major gene underlying the Phs-A1 effect in European, North American, Australian and Asian germplasm. We identified the non-dormant TaMKK3-A allele at low frequencies within the A-genome diploid progenitor Triticum urartu genepool, and show an increase in the allele frequency in modern varieties. In United Kingdom varieties, the frequency of the dormant TaMKK3-A allele was significantly higher in bread-making quality varieties compared to feed and biscuit-making cultivars. Analysis of exome capture data from 58 diverse hexaploid wheat accessions identified fourteen haplotypes across the extended Phs-A1 locus and four haplotypes for TaMKK3-A. Analysis of these haplotypes in a collection of United Kingdom and Australian cultivars revealed distinct major dormant and non-dormant Phs-A1 haplotypes in each country, which were either rare or absent in the opposing germplasm set. The diagnostic markers and haplotype information reported in the

  17. Analysis of HLA-A, HLA-B, HLA-DRB1 allelic, genotypic, and haplotypic frequencies in colombian population

    OpenAIRE

    Yazmin Rocío Árias-Murillo; Miguel Ángel Castro-Jiménez; María Fernanda Ríos-Espinosa; Juan Javier López-Rivera; Sandra Johanna Echeverry-Coral; Oscar Martínez-Nieto

    2010-01-01

    Introduction: The high polymorphism of the HLA system allows its typification to be used as valuable tool in establishing association to various illnesses, immune and genetic profiles; it also provides a guide to identifying compatibility among donors and receptors of organs transplants. Objective: To establish HLA-A, HLA-B, and HLA.DRB1 allele, genotype and haplotype frequencies among patients treated at Clinica Colsanitas SA. Methods: 561 patients coming from different regions in Col...

  18. Cask crush pad analysis using detailed and simplified analysis methods

    International Nuclear Information System (INIS)

    Uldrich, E.D.; Hawkes, B.D.

    1997-01-01

    A crush pad has been designed and analyzed to absorb the kinetic energy of a hypothetically dropped spent nuclear fuel shipping cask into a 44-ft. deep cask unloading pool at the Fluorinel and Storage Facility (FAST). This facility, located at the Idaho Chemical Processing Plant (ICPP) at the Idaho national Engineering and Environmental Laboratory (INEEL), is a US Department of Energy site. The basis for this study is an analysis by Uldrich and Hawkes. The purpose of this analysis was to evaluate various hypothetical cask drop orientations to ensure that the crush pad design was adequate and the cask deceleration at impact was less than 100 g. It is demonstrated herein that a large spent fuel shipping cask, when dropped onto a foam crush pad, can be analyzed by either hand methods or by sophisticated dynamic finite element analysis using computer codes such as ABAQUS. Results from the two methods are compared to evaluate accuracy of the simplified hand analysis approach

  19. The roles of variants in human multidrug resistance (MDR1 gene and their haplotypes on antiepileptic drugs response: a meta-analysis of 57 studies.

    Directory of Open Access Journals (Sweden)

    Hui Li

    Full Text Available Previous studies reported the associations between the ATP-binding cassette sub-family B member 1 (ABCB1, also known as MDR1 polymorphisms and their haplotypes with risk of response to antiepileptic drugs in epilepsy, however, the results were inconclusive.The Pubmed, Embase, Web of Science, CNKI and Chinese Biomedicine databases were searched up to July 15, 2014. Pooled odds ratios (ORs and 95% confidence intervals (CIs were calculated using a fixed-effects or random-effects model based on heterogeneity tests. Meta-regression and Galbraith plot analysis were carried out to explore the possible heterogeneity.A total of 57 studies involving 12407 patients (6083 drug-resistant and 6324 drug-responsive patients with epilepsy were included in the pooled-analysis. For all three polymorphisms (C3435T, G2677T/A, and C1236T, we observed a wide spectrum of minor allele frequencies across different ethnicities. A significantly decreased risk of AEDs resistance was observed in Caucasian patients with T allele of C3435T variant, which was still significant after adjusted by multiple testing corrections (T vs C: OR=0.83, 95%CI=0.71-0.96, p=0.01. However, no significant association was observed between the other two variants and AEDs resistance. Of their haplotypes in ABCB1 gene (all studies were in Indians and Asians, no significant association was observed with AEDs resistance. Moreover, sensitivity and Cumulative analysis showed that the results of this meta-analysis were stable.In summary, this meta-analysis demonstrated that effect of C3435T variant on risk of AEDs resistance was ethnicity-dependent, which was significant in Caucasians. Additionally, further studies in different ethnic groups are warranted to clarify possible roles of haplotypes in ABCB1 gene in AEDs resistance, especially in Caucasians.

  20. Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma

    Directory of Open Access Journals (Sweden)

    Cobbs Gary A

    2007-05-01

    Full Text Available Abstract Background N-acetyltransferase 1 (NAT1 and 2 (NAT2 are polymorphic isoenzymes responsible for the metabolism of numerous drugs and carcinogens. Acetylation catalyzed by NAT1 and NAT2 are important in metabolic activation of arylamines to electrophilic intermediates that initiate carcinogenesis. Inflammatory bowel diseases (IBD consist of Crohn's disease (CD and ulcerative colitis (UC, both are associated with increased colorectal cancer (CRC risk. We hypothesized that NAT1 and/or NAT2 polymorphisms contribute to the increased cancer evident in IBD. Methods A case control study was performed with 729 Caucasian participants, 123 CRC, 201 CD, 167 UC, 15 IBD dysplasia/cancer and 223 controls. NAT1 and NAT2 genotyping were performed using Taqman based techniques. Eight single nucleotide polymorphisms (SNPs were characterized for NAT1 and 7 SNPs for NAT2. Haplotype frequencies were estimated using an Expectation-Maximization (EM method. Disease groups were compared to a control group for the frequencies at each individual SNP separately. The same groups were compared for the frequencies of NAT1 and NAT2 haplotypes and deduced NAT2 phenotypes. Results No statistically significant differences were found for any comparison. Strong linkage disequilibrium was present among both the NAT1 SNPs and the NAT2 SNPs. Conclusion This study did not demonstrate an association between NAT1 and NAT2 polymorphisms and IBD or sporadic CRC, although power calculations indicate this study had sufficient sample size to detect differences in frequency as small as 0.05 to 0.15 depending on SNP or haplotype.

  1. Post-mortem analysis of suicide victims shows ABCB1 haplotype 1236T-2677T-3435T as a candidate predisposing factor behind adverse drug reactions in females.

    Science.gov (United States)

    Rahikainen, Anna-Liina; Palo, Jukka U; Haukka, Jari; Sajantila, Antti

    2018-04-01

    Genetic variation in efflux transporter, permeability glycoprotein (P-gp), has recently been associated with completed violent suicides and also violent suicide attempts. As depression is known to be a risk factor for suicide and many antidepressants are P-gp substrates, it has been speculated that inadequate antidepressant treatment response or adverse side effects could be involved. The aim of this study was to investigate whether there is an association between the P-gp coding ABCB1 gene and completed suicides in citalopram users. Also, the effect of sex and suicide method used (violent vs. non-violent) was evaluated. All cases included in the study population, 349 completed suicide victims and 284 controls, were shown to be positive for antidepressant citalopram in a post-mortem toxicological drug screen. ABCB1 1236C>T, 2677G>T/A and 3435C>T polymorphisms were determined by TaqMan genotyping assays. Haplotypes were constructed from genotype data using the PHASE software. The association between the manner of death and the ABCB1 haplotype was tested with logistic regression analysis. No statistically significant differences were observed in the ABCB1 allele or genotype frequencies between the suicide and control groups. However, the ABCB1 1236T-2677T-3435T haplotype was associated with completed suicides of female citalopram users (odds ratio: 2.23; 95% confidence interval: 1.22-4.07; P=0.009). After stratification by the method used for suicide, the association emerged in fatal intoxications (odds ratio: 2.51; 95% confidence interval: 1.29-4.87; P=0.007). In other groups, no statistically significant associations were observed. Our results suggest that female citalopram users with ABCB1 1236T-2677T-3435T are more vulnerable to adverse effects of the drugs as this haplotype was enriched in non-violent suicides of female citalopram users. Even though the biological mechanism behind this observation is unknown, the results provide another example of the importance

  2. Detailed analysis of the KAERI nTOF facility

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jong Woon; Lee, Young Ouk [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2016-06-15

    A project for building a neutron time-of-flight (nTOF) facility is progressing. We expect that the construction will start in early 2016. Before that, a detailed simulation based on the current architectural drawings was performed to optimize the performance of our facility. Currently, several parts had been modified or changed from the original design to reflect requirements such as the layout of the electron beam line, shape of the vacuum chamber producing a neutron beam, and the underground layout of the nTOF facility. Detailed analysis for these modifications has been done with MCNP simulation. An overview of our photo-neutron source and KAERI nTOF facility were introduced. The numerical simulations for heat deposition, source term, and radiation shielding of KAERI nTOF facility were performed and the results are discussed. We are expecting that the construction of the KAERI nTOF facility will start in early 2016, and these results will be used as basic data.

  3. Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis

    Directory of Open Access Journals (Sweden)

    Mohamed N. Saad

    2016-01-01

    Full Text Available Genetics of autoimmune diseases represent a growing domain with surpassing biomarker results with rapid progress. The exact cause of Rheumatoid Arthritis (RA is unknown, but it is thought to have both a genetic and an environmental bases. Genetic biomarkers are capable of changing the supervision of RA by allowing not only the detection of susceptible individuals, but also early diagnosis, evaluation of disease severity, selection of therapy, and monitoring of response to therapy. This review is concerned with not only the genetic biomarkers of RA but also the methods of identifying them. Many of the identified genetic biomarkers of RA were identified in populations of European and Asian ancestries. The study of additional human populations may yield novel results. Most of the researchers in the field of identifying RA biomarkers use single nucleotide polymorphism (SNP approaches to express the significance of their results. Although, haplotype block methods are expected to play a complementary role in the future of that field.

  4. Detailed analysis of the scope of the modified Firsov model

    International Nuclear Information System (INIS)

    Cruz, S.A.; Vargas-Aburto, C.; Brice, D.K.; Alonso, E.V.; Armour, D.G.

    1983-01-01

    A detailed and systematic analysis of the scope of the Firsov model as modified by Cheshire when no adjustable parameters are included in the calculations of the low-velocity electronic-stopping cross section is presented. For this purpose we summarize and extend our previously reported [Radiat. Eff. Lett. 43, 79 (1979); Nucl. Instrum. Methods 170, 205 (1980)] preliminary results on the role of all computational degrees of freedom that influence the outcome of the calculations, namely, (a) inclusion of trajectory, (b) accuracy of wave functions and speed of atomic electrons, (c) motion of Firsov's plane, and (d) consideration of experimental conditions. We find that the Firsov theory is accurate only within a factor of 2; therefore, at least a scale factor is necessary in order to get reasonable agreement with experiment

  5. FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

    Science.gov (United States)

    Rajan-Babu, Indhu-Shree; Lian, Mulias; Cheah, Felicia S H; Chen, Min; Tan, Arnold S C; Prasath, Ethiraj B; Loh, Seong Feei; Chong, Samuel S

    2017-07-19

    Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all 'embryos'. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

  6. Detail analysis of fusion neutronics benchmark experiment on beryllium

    International Nuclear Information System (INIS)

    Konno, Chikara; Ochiai, Kentaro; Takakura, Kosuke; Ohnishi, Seiki; Kondo, Keitaro; Wada, Masayuki; Sato, Satoshi

    2010-01-01

    Our previous analysis of the integral experiments (in situ and TOF experiments) on beryllium with DT neutrons at JAEA/FNS pointed out two problems by using MCNP4C and the latest nuclear data libraries; one was a strange larger neutron peak around 12 MeV appearing in the TOF experiment analysis with JEFF-3.1 and the other was an overestimation on law energy neutrons in the in situ experiment analyses with all the nuclear data libraries. We investigated reasons for these problems in detail. It was found out that the official ACE file MCJEFF3.1 of JEFF-3.1 had an inconsistency with the original JEFF-3.1, which caused the strange larger neutron peak around 12 MeV in the TOF experiment analysis. We also found out that the calculated thermal neutron peak was probably too large in the in situ experiment. On trial we examined influence of the thermal neutron scattering law data of beryllium metal in ENDF/B-VI. The result pointed out that the coherent elastic scattering cross-section data in the thermal neutron scattering law data of beryllium metal were probably too large.

  7. Analysis of Fatigue Crack Growth in Ship Structural Details

    Directory of Open Access Journals (Sweden)

    Leheta Heba W.

    2016-04-01

    Full Text Available Fatigue failure avoidance is a goal that can be achieved only if the fatigue design is an integral part of the original design program. The purpose of fatigue design is to ensure that the structure has adequate fatigue life. Calculated fatigue life can form the basis for meaningful and efficient inspection programs during fabrication and throughout the life of the ship. The main objective of this paper is to develop an add-on program for the analysis of fatigue crack growth in ship structural details. The developed program will be an add-on script in a pre-existing package. A crack propagation in a tanker side connection is analyzed by using the developed program based on linear elastic fracture mechanics (LEFM and finite element method (FEM. The basic idea of the developed application is that a finite element model of this side connection will be first analyzed by using ABAQUS and from the results of this analysis the location of the highest stresses will be revealed. At this location, an initial crack will be introduced to the finite element model and from the results of the new crack model the direction of the crack propagation and the values of the stress intensity factors, will be known. By using the calculated direction of propagation a new segment will be added to the crack and then the model is analyzed again. The last step will be repeated until the calculated stress intensity factors reach the critical value.

  8. Detailed 3-D nuclear analysis of ITER outboard blanket modules

    International Nuclear Information System (INIS)

    Bohm, Tim; Davis, Andrew; Sawan, Mohamed; Marriott, Edward; Wilson, Paul; Ulrickson, Michael; Bullock, James

    2015-01-01

    Highlights: • Nuclear analysis was performed on detailed CAD models placed in a 40 degree model of ITER. • The regions examined include BM09, the upper ELM coil region (BM11–13), the neutral beam (NB) region (BM13–16), and BM18. • The results show that VV nuclear heating exceeds limits in the NB and upper ELM coil regions. • The results also show that the level of He production in parts of BM18 exceeds limits. • These calculations are being used to modify the design of the ITER blanket modules. - Abstract: In the ITER design, the blanket modules (BM) provide thermal and nuclear shielding for the vacuum vessel (VV), magnets, and other components. We used the CAD based DAG-MCNP5 transport code to analyze detailed models inserted into a 40 degree partially homogenized ITER global model. The regions analyzed include BM09, BM16 near the heating neutral beam injection (HNB) region, BM11–13 near the upper ELM coil region, and BM18. For the BM16 HNB region, the VV nuclear heating behind the NB region exceeds the design limit by up to 80%. For the BM11–13 region, the nuclear heating of the VV exceeds the design limit by up to 45%. For BM18, the results show that He production does not meet the limit necessary for re-welding. The results presented in this work are being used by the ITER Organization Blanket and Tokamak Integration groups to modify the BM design in the cases where limits are exceeded.

  9. Detailed 3-D nuclear analysis of ITER outboard blanket modules

    Energy Technology Data Exchange (ETDEWEB)

    Bohm, Tim, E-mail: tdbohm@wisc.edu [Fusion Technology Institute, University of Wisconsin-Madison, Madison, WI (United States); Davis, Andrew; Sawan, Mohamed; Marriott, Edward; Wilson, Paul [Fusion Technology Institute, University of Wisconsin-Madison, Madison, WI (United States); Ulrickson, Michael; Bullock, James [Formerly, Fusion Technology, Sandia National Laboratories, Albuquerque, NM (United States)

    2015-10-15

    Highlights: • Nuclear analysis was performed on detailed CAD models placed in a 40 degree model of ITER. • The regions examined include BM09, the upper ELM coil region (BM11–13), the neutral beam (NB) region (BM13–16), and BM18. • The results show that VV nuclear heating exceeds limits in the NB and upper ELM coil regions. • The results also show that the level of He production in parts of BM18 exceeds limits. • These calculations are being used to modify the design of the ITER blanket modules. - Abstract: In the ITER design, the blanket modules (BM) provide thermal and nuclear shielding for the vacuum vessel (VV), magnets, and other components. We used the CAD based DAG-MCNP5 transport code to analyze detailed models inserted into a 40 degree partially homogenized ITER global model. The regions analyzed include BM09, BM16 near the heating neutral beam injection (HNB) region, BM11–13 near the upper ELM coil region, and BM18. For the BM16 HNB region, the VV nuclear heating behind the NB region exceeds the design limit by up to 80%. For the BM11–13 region, the nuclear heating of the VV exceeds the design limit by up to 45%. For BM18, the results show that He production does not meet the limit necessary for re-welding. The results presented in this work are being used by the ITER Organization Blanket and Tokamak Integration groups to modify the BM design in the cases where limits are exceeded.

  10. Patterns of Communication through Interpreters: A Detailed Sociolinguistic Analysis

    Science.gov (United States)

    Aranguri, Cesar; Davidson, Brad; Ramirez, Robert

    2006-01-01

    BACKGROUND Numerous articles have detailed how the presence of an interpreter leads to less satisfactory communication with physicians; few have studied how actual communication takes place through an interpreter in a clinical setting. OBJECTIVE Record and analyze physician-interpreter-patient interactions. DESIGN Primary care physicians with high-volume Hispanic practices were recruited for a communication study. Dyslipidemic Hispanic patients, either monolingual Spanish or bilingual Spanish-English, were recruited on the day of a normally scheduled appointment and, once consented, recorded without a researcher present in the room. Separate postvisit interviews were conducted with the patient and the physician. All interactions were fully transcribed and analyzed. PARTICIPANTS Sixteen patients were recorded interacting with 9 physicians. Thirteen patients used an interpreter with 8 physicians, and 3 patients spoke Spanish with the 1 bilingual physician. APPROACH Transcript analysis based on sociolinguistic and discourse analytic techniques, including but not limited to time speaking, analysis of questions asked and answered, and the loss of semantic information. RESULTS Speech was significantly reduced and revised by the interpreter, resulting in an alteration of linguistic features such as content, meaning, reinforcement/validation, repetition, and affect. In addition, visits that included an interpreter had virtually no rapport-building “small talk,” which typically enables the physician to gain comprehensive patient history, learn clinically relevant information, and increase emotional engagement in treatment. CONCLUSIONS The presence of an interpreter increases the difficulty of achieving good physician-patient communication. Physicians and interpreters should be trained in the process of communication and interpretation, to minimize conversational loss and maximize the information and relational exchange with interpreted patients. PMID:16808747

  11. A Content Analysis of Officer Perceptions of Detailing.

    Science.gov (United States)

    1981-03-01

    answer was "No Way"! Told me needs of service were in Philippine Island CNSG WESTPAC as OPS, three year tour. I wrote letter saying O.K. Was detailed as...off to them as it has to be least preferred of all tasks...personnel detailer. 2 I regret the tardiness of this reply - New Zealand is a long way

  12. Green turtles (Chelonia mydas foraging at Arvoredo Island in Southern Brazil: genetic characterization and mixed stock analysis through mtDNA control region haplotypes

    Directory of Open Access Journals (Sweden)

    Maíra Carneiro Proietti

    2009-01-01

    Full Text Available We analyzed mtDNA control region sequences of green turtles (Chelonia mydas from Arvoredo Island, a foraging ground in southern Brazil, and identified eight haplotypes. Of these, CM-A8 (64% and CM-A5 (22% were dominant, the remainder presenting low frequencies ( 0.05. Mixed Stock Analysis, incorporating eleven Atlantic and one Mediterranean rookery as possible sources of individuals, indicated Ascension and Aves islands as the main contributing stocks to the Arvoredo aggregation (68.01% and 22.96%, respectively. These results demonstrate the extensive relationships between Arvoredo Island and other Atlantic foraging and breeding areas. Such an understanding provides a framework for establishing adequate management and conservation strategies for this endangered species.

  13. Detailed analysis of radon flux studies at Australian uranium projects

    International Nuclear Information System (INIS)

    Mudd, Gavin M.

    2005-01-01

    The release of radon gas and radon progeny from uranium projects is a major issue during operation as well as for the design of rehabilitation works. In Australia, there have been a number of premining radon flux studies as part of the environmental investigation and potential development of recent uranium projects. There is also an increasing amount of operational data on radon fluxes and loads from various aspects of projects, such as tailings, waste rock and mills. Thus there exists much useful measured data which can be used to assess the design radon flux and load targets for rehabilitation. The main projects for which radon data exists includes Ranger, Olympic Dam, Beverley, Honeymoon, Jabiluka, Yeelirrie, Lake Way, Koongarra, Moline, Coronation Hill, Rockhole, Nabarlek, Rum Jungle, Port Pirie and Ben Lomond. To date, much of this data has not been systematically evaluated. The need to compile and assess this data is twofold. Firstly, to assess the loads released from uranium production as an input into life-cycle analyses of the nuclear fuel cycle, such as those undertaken by UNSCEAR and industry groups. Secondly, there is a need to set suitable design standards for radon flux for the rehabilitation of former and current uranium projects. This paper will present such a detailed compilation of radon fluxes and loads which can then be used as the basis for both life-cycle analyses as well as setting appropriate site-specific rehabilitation criteria for radon. The implications for former and current projects is then discussed as well as future data needs. Ultimately, there is a critical need for thorough baseline surveys prior to mining to ensure accurate assessments of changes to radon fluxes and loads. The data and analysis presented is considered applicable to all uranium projects in Australia, as well as being a useful model for considering such issues internationally

  14. Detailed thermodynamic analysis of a diffusion-absorption refrigeration cycle

    International Nuclear Information System (INIS)

    Taieb, Ahmed; Mejbri, Khalifa; Bellagi, Ahmed

    2016-01-01

    This paper proposes an advanced simulation model for a Diffusion-Absorption Refrigerator DAR using ammonia/water/hydrogen as working fluids, and developed to describe and predict the behavior of the device under different operating conditions. The system is supposed to be cooled with ambient air and actuated with solar hot water available at 200 °C. The DAR is first simulated for a set of basic data; a COP of 0.126 associated to a cooling capacity of 22.3 W are found. Basing on the obtained results an exergetic analysis of the system is performed which shows that the rectifier contribution to the exergy destruction is the most important with 34%. In a second step, the thermal capacities of all heat exchangers of the DAR are evaluated and the mathematical model so modified that the calculated capacities are now used as input data. A parametric study of the cycle is then carried out. The COP is found to exhibit a maximum when the heat supplied to the boiler or to the bubble pump is varied. Similar behavior is observed for variable submergence ratio. It is further noted that the COP is very sensitive to the ambient air temperature and to the absorber efficiency. - Highlights: • A detailed model of a Diffusion Absorption is developed and simulated. • Irreversibility of each component of the cycle is examined. • A modified model based on thermal capacity of components of the DAR is elaborated. • System performance is calculated over a series of practical operating conditions.

  15. Human Factors Considerations in New Nuclear Power Plants: Detailed Analysis.

    Energy Technology Data Exchange (ETDEWEB)

    OHara,J.; Higgins, J.; Brown, W.; Fink, R.

    2008-02-14

    This Nuclear Regulatory Commission (NRC) sponsored study has identified human-performance issues in new and advanced nuclear power plants. To identify the issues, current industry developments and trends were evaluated in the areas of reactor technology, instrumentation and control technology, human-system integration technology, and human factors engineering (HFE) methods and tools. The issues were organized into seven high-level HFE topic areas: Role of Personnel and Automation, Staffing and Training, Normal Operations Management, Disturbance and Emergency Management, Maintenance and Change Management, Plant Design and Construction, and HFE Methods and Tools. The issues where then prioritized into four categories using a 'Phenomena Identification and Ranking Table' methodology based on evaluations provided by 14 independent subject matter experts. The subject matter experts were knowledgeable in a variety of disciplines. Vendors, utilities, research organizations and regulators all participated. Twenty issues were categorized into the top priority category. This Brookhaven National Laboratory (BNL) technical report provides the detailed methodology, issue analysis, and results. A summary of the results of this study can be found in NUREG/CR-6947. The research performed for this project has identified a large number of human-performance issues for new control stations and new nuclear power plant designs. The information gathered in this project can serve as input to the development of a long-term strategy and plan for addressing human performance in these areas through regulatory research. Addressing human-performance issues will provide the technical basis from which regulatory review guidance can be developed to meet these challenges. The availability of this review guidance will help set clear expectations for how the NRC staff will evaluate new designs, reduce regulatory uncertainty, and provide a well-defined path to new nuclear power plant

  16. Tracking human migrations by the analysis of the distribution of HLA alleles, lineages and haplotypes in closed and open populations

    Science.gov (United States)

    Vina, Marcelo A. Fernandez; Hollenbach, Jill A.; Lyke, Kirsten E.; Sztein, Marcelo B.; Maiers, Martin; Klitz, William; Cano, Pedro; Mack, Steven; Single, Richard; Brautbar, Chaim; Israel, Shosahna; Raimondi, Eduardo; Khoriaty, Evelyne; Inati, Adlette; Andreani, Marco; Testi, Manuela; Moraes, Maria Elisa; Thomson, Glenys; Stastny, Peter; Cao, Kai

    2012-01-01

    The human leucocyte antigen (HLA) system shows extensive variation in the number and function of loci and the number of alleles present at any one locus. Allele distribution has been analysed in many populations through the course of several decades, and the implementation of molecular typing has significantly increased the level of diversity revealing that many serotypes have multiple functional variants. While the degree of diversity in many populations is equivalent and may result from functional polymorphism(s) in peptide presentation, homogeneous and heterogeneous populations present contrasting numbers of alleles and lineages at the loci with high-density expression products. In spite of these differences, the homozygosity levels are comparable in almost all of them. The balanced distribution of HLA alleles is consistent with overdominant selection. The genetic distances between outbred populations correlate with their geographical locations; the formal genetic distance measurements are larger than expected between inbred populations in the same region. The latter present many unique alleles grouped in a few lineages consistent with limited founder polymorphism in which any novel allele may have been positively selected to enlarge the communal peptide-binding repertoire of a given population. On the other hand, it has been observed that some alleles are found in multiple populations with distinctive haplotypic associations suggesting that convergent evolution events may have taken place as well. It appears that the HLA system has been under strong selection, probably owing to its fundamental role in varying immune responses. Therefore, allelic diversity in HLA should be analysed in conjunction with other genetic markers to accurately track the migrations of modern humans. PMID:22312049

  17. Differentiation analysis for estimating individual ancestry from the Tibetan Plateau by an archaic altitude adaptation EPAS1 haplotype among East Asian populations.

    Science.gov (United States)

    Jiang, Li; Peng, Jianxiong; Huang, Meisha; Liu, Jing; Wang, Ling; Ma, Quan; Zhao, Hui; Yang, Xin; Ji, Anquan; Li, Caixia

    2018-02-10

    Tibetans have adapted to the extreme environment of high altitude for hundreds of generations. A highly differentiated 5-SNP (Single Nucleotide Polymorphism) haplotype motif (AGGAA) on a hypoxic pathway gene, EPAS1, is observed in Tibetans and lowlanders. To evaluate the potential usage of the 5-SNP haplotype in ancestry inference for Tibetan or Tibetan-related populations, we analyzed this haplotype in 1053 individuals of 12 Chinese populations residing on the Tibetan Plateau, peripheral regions of Tibet, and plain regions. These data were integrated with the genotypes from the 1000 Genome populations and populations in a previously reported paper for population structure analyses. We found that populations representing highland and lowland groups have different dominant ancestry components. The core Denisovan haplotype (AGGAA) was observed at a frequency of 72.32% in the Tibetan Plateau, with a frequency range from 9.48 to 21.05% in the peripheral regions and Tibetan Plateau carried the archaic haplotype, while < 5% of the Chinese Han people carried the haplotype. Our findings indicate that the 5-SNP haplotype has a special distribution pattern in populations of Tibet and peripheral regions and could be integrated into AISNP (Ancestry Informative Single Nucleotide Polymorphism) panels to enhance ancestry resolution.

  18. Haplotype analysis of the genes encoding glutamine synthetase plastic isoforms and their association with nitrogen-use- and yield-related traits in bread wheat.

    Science.gov (United States)

    Li, Xin-Peng; Zhao, Xue-Qiang; He, Xue; Zhao, Guang-Yao; Li, Bin; Liu, Dong-Cheng; Zhang, Ai-Min; Zhang, Xue-Yong; Tong, Yi-Ping; Li, Zhen-Sheng

    2011-01-01

    Glutamine synthetase (GS) plays a key role in the growth, nitrogen (N) use and yield potential of cereal crops. Investigating the haplotype variation of GS genes and its association with agronomic traits may provide useful information for improving wheat N-use efficiency and yield. We isolated the promoter and coding region sequences of the plastic glutamine synthetase isoform (GS2) genes located on chromosomes 2A, 2B and 2D in bread wheat. By analyzing nucleotide sequence variations of the coding region, two, six and two haplotypes were distinguished for TaGS2-A1 (a and b), TaGS2-B1 (a-f) and TaGS2-D1 (a and b), respectively. By analyzing the frequency data of different haplotypes and their association with N use and agronomic traits, four major and favorable TaGS2 haplotypes (A1b, B1a, B1b, D1a) were revealed. These favorable haplotypes may confer better seedling growth, better agronomic performance, and improved N uptake during vegetative growth or grain N concentration. Our data suggest that certain TaGS2 haplotypes may be valuable in breeding wheat varieties with improved agronomic performance and N-use efficiency. © The Authors (2010). Journal compilation © New Phytologist Trust (2010).

  19. Association analysis of the dopamine D{sub 2} receptor gene in Tourette`s syndrome using the haplotype relative risk method

    Energy Technology Data Exchange (ETDEWEB)

    Noethen, M.M.; Cichon, S.; Propping, P. [Univ. of Bonn (Germany)] [and others

    1994-09-15

    Comings et al. have recently reported a highly significant association between Tourette`s syndrome (TS) and a restriction fragment length polymorphism (RFLP) of the dopamine D{sub 2} receptor gene (DRD2) locus. The A1 allele of the DRD2 Taq I RFLP was present in 45% of the Tourette patients compared with 25% of controls. We tried to replicate this finding by using the haplotype relative risk (HRR) method for association analysis. This method overcomes a major problem of conventional case-control studies, where undetected ethnic differences between patients and controls may result in a false-positive finding, by using parental alleles not inherited by the proband as control alleles. Sixty-one nuclear families encompassing an affected child and parents were typed for the DRD2 Taq I polymorphism. No significant differences in DRD2 A1 allele frequency were observed between TS probands, sub-populations of probands classified according to tic severity, or parental control alleles. Our data do not support the hypothesis that the DRD2 locus may act as a modifying gene in the expression of the disorder in TS probands. 40 refs., 1 tab.

  20. Cutting costs through detailed probabilistic fire risk analysis

    Energy Technology Data Exchange (ETDEWEB)

    Oliveira, Luiz; Huser, Asmund; Vianna, Savio [Det Norske Veritas PRINCIPIA, Rio de Janeiro, RJ (Brazil)

    2004-07-01

    A new procedure for calculation of fire risks to offshore installations has been developed. The purposes of the procedure are to calculate the escalation and impairment frequencies to be applied in quantitative risk analyses, to optimize Passive Fire Protection (PFP) arrangement, and to optimize other fire mitigation means. The novelties of the procedure are that it uses state of the art Computational Fluid Dynamics (CFD) models to simulate fires and radiation, as well as the use of a probabilistic approach to decide the dimensioning fire loads. A CFD model of an actual platform was used to investigate the dynamic properties of a large set of jet fires, resulting in detailed knowledge of the important parameters that decide the severity of offshore fires. These results are applied to design the procedure. Potential increase in safety is further obtained for those conditions where simplified tools may have failed to predict abnormal heat loads due to geometrical effects. Using a field example it is indicated that the probabilistic approach can give significant reductions in PFP coverage with corresponding cost savings, still keeping the risk at acceptable level. (author)

  1. Task analysis: a detailed example of stepping up from JSA

    International Nuclear Information System (INIS)

    Banks, W.W.; Paramore, B.A.; Buys, J.R.

    1984-10-01

    This paper discusses a pilot task analysis of operations in a proposed facility for the cutting and packaging of radioactively contaminated gloveboxes, for long-term storage or burial. The objective was to demonstrate how task analysis may be used as a tool for planning and risk management. Two specific products were generated - preliminary operating procedures and training requirements. The task data base, procedures list and training requirements developed were intended as first order categorizations. The analysis was limited to tasks that will be performed within the boundaries of the operational facility and the associated load-out area. The analysis documents tasks to be performed by D and D (Decontamination and Decommissioning) Workers. However, the analysis included all tasks identified as an integral part of glovebox processing within the facility. Thus tasks involving Radiation Protection Technicians (RPTs) are included. Based on hazard assessments, it is planned that at least two RPTs will be assigned full-time to the facility, so they may be considered part of its crew. Similarly, supervisory/administrative tasks are included where they were determined to be directly part of process sequences, such as obtaining appropriate certification. 11 tables

  2. Are molecular haplotypes worth the time and expense? A cost-effective method for applying molecular haplotypes.

    Directory of Open Access Journals (Sweden)

    Mark A Levenstien

    2006-08-01

    Full Text Available Because current molecular haplotyping methods are expensive and not amenable to automation, many researchers rely on statistical methods to infer haplotype pairs from multilocus genotypes, and subsequently treat these inferred haplotype pairs as observations. These procedures are prone to haplotype misclassification. We examine the effect of these misclassification errors on the false-positive rate and power for two association tests. These tests include the standard likelihood ratio test (LRTstd and a likelihood ratio test that employs a double-sampling approach to allow for the misclassification inherent in the haplotype inference procedure (LRTae. We aim to determine the cost-benefit relationship of increasing the proportion of individuals with molecular haplotype measurements in addition to genotypes to raise the power gain of the LRTae over the LRTstd. This analysis should provide a guideline for determining the minimum number of molecular haplotypes required for desired power. Our simulations under the null hypothesis of equal haplotype frequencies in cases and controls indicate that (1 for each statistic, permutation methods maintain the correct type I error; (2 specific multilocus genotypes that are misclassified as the incorrect haplotype pair are consistently misclassified throughout each entire dataset; and (3 our simulations under the alternative hypothesis showed a significant power gain for the LRTae over the LRTstd for a subset of the parameter settings. Permutation methods should be used exclusively to determine significance for each statistic. For fixed cost, the power gain of the LRTae over the LRTstd varied depending on the relative costs of genotyping, molecular haplotyping, and phenotyping. The LRTae showed the greatest benefit over the LRTstd when the cost of phenotyping was very high relative to the cost of genotyping. This situation is likely to occur in a replication study as opposed to a whole-genome association study.

  3. Detailed analysis of turbulent flows in air curtains

    NARCIS (Netherlands)

    Jaramillo, Julian E.; Perez-Segarra, Carlos D.; Lehmkuhl, Oriol; Castro, Jesus

    2011-01-01

    In order to prevent entrainment, an air curtain should provide a jet with low turbulence level, and enough momentum to counteract pressure differences across the opening. Consequently, the analysis of the discharge plenum should be taken into consideration. Hence, the main object of this paper is to

  4. The need for detailed gender-specific occupational safety analysis.

    Science.gov (United States)

    Cruz Rios, Fernanda; Chong, Wai K; Grau, David

    2017-09-01

    The female work in population is growing in the United States, therefore the occupational health and safety entities must start to analyze gender-specific data related to every industry, especially to nontraditional occupations. Women working in nontraditional jobs are often exposed to extreme workplace hazards. These women have their safety and health threatened because there are no adequate policies to mitigate gender-specific risks such as discrimination and harassment. Employers tend to aggravate this situation because they often fail to provide proper reporting infrastructure and support. According to past studies, women suffered from workplace injuries and illnesses that were less prominent among men. Statistics also confirmed that men and women faced different levels of risks in distinct work environments. For example, the rates of workplace violence and murders by personal acquaintances were significantly higher among women. In this paper, the authors analyze prior public data on fatal and nonfatal injuries to understand why we need to differentiate genders when analyzing occupational safety and health issues. The analyses confirmed that women dealt with unique workplace hazards compared to men. It is urgent that public agencies, such as the U.S. Department of Labor, record gender-specific data in details and by occupations and industries. The reader will become aware of the current lack - and need - of data and knowledge about injuries and illnesses separated by gender and industry. Finally, safety and health researchers are encouraged to investigate the gender-specific data in all industries and occupations, as soon as they become available. Copyright © 2017 National Safety Council and Elsevier Ltd. All rights reserved.

  5. Lightning climatology in the Congo Basin: detailed analysis

    Science.gov (United States)

    Soula, Serge; Kigotsi, Jean; Georgis, Jean-François; Barthe, Christelle

    2016-04-01

    The lightning climatology of the Congo Basin including several countries of Central Africa is analyzed in detail for the first time. It is based on World Wide Lightning Location Network (WWLLN) data for the period from 2005 to 2013. A comparison of these data with the Lightning Imaging Sensor (LIS) data for the same period shows the WWLLN detection efficiency (DE) in the region increases from about 1.70 % in the beginning of the period to 5.90 % in 2013, relative to LIS data, but not uniformly over the whole 2750 km × 2750 km area. Both the annual flash density and the number of stormy days show sharp maximum values localized in eastern of Democratic Republic of Congo (DRC) and west of Kivu Lake, regardless of the reference year and the period of the year. These maxima reach 12.86 fl km-2 and 189 days, respectively, in 2013, and correspond with a very active region located at the rear of the Virunga mountain range characterised with summits that can reach 3000 m. The presence of this range plays a role in the thunderstorm development along the year. The estimation of this local maximum of the lightning density by taking into account the DE, leads to a value consistent with that of the global climatology by Christian et al. (2003) and other authors. Thus, a mean maximum value of about 157 fl km-2 y-1 is found for the annual lightning density. The zonal distribution of the lightning flashes exhibits a maximum between 1°S and 2°S and about 56 % of the flashes located below the equator in the 10°S - 10°N interval. The diurnal evolution of the flash rate has a maximum between 1400 and 1700 UTC, according to the reference year, in agreement with previous works in other regions of the world.

  6. Transcriptome analysis reveals the same 17 S-locus F-box genes in two haplotypes of the self-incompatibility locus of Petunia inflata.

    Science.gov (United States)

    Williams, Justin S; Der, Joshua P; dePamphilis, Claude W; Kao, Teh-Hui

    2014-07-01

    Petunia possesses self-incompatibility, by which pistils reject self-pollen but accept non-self-pollen for fertilization. Self-/non-self-recognition between pollen and pistil is regulated by the pistil-specific S-RNase gene and by multiple pollen-specific S-locus F-box (SLF) genes. To date, 10 SLF genes have been identified by various methods, and seven have been shown to be involved in pollen specificity. For a given S-haplotype, each SLF interacts with a subset of its non-self S-RNases, and an as yet unknown number of SLFs are thought to collectively mediate ubiquitination and degradation of all non-self S-RNases to allow cross-compatible pollination. To identify a complete suite of SLF genes of P. inflata, we used a de novo RNA-seq approach to analyze the pollen transcriptomes of S2-haplotype and S3-haplotype, as well as the leaf transcriptome of the S3S3 genotype. We searched for genes that fit several criteria established from the properties of the known SLF genes and identified the same seven new SLF genes in S2-haplotype and S3-haplotype, suggesting that a total of 17 SLF genes constitute pollen specificity in each S-haplotype. This finding lays the foundation for understanding how multiple SLF genes evolved and the biochemical basis for differential interactions between SLF proteins and S-RNases. © 2014 American Society of Plant Biologists. All rights reserved.

  7. Detailed analysis of the ANO-2 turbine trip test

    International Nuclear Information System (INIS)

    McDonald, T.A.; Tessier, J.H.; Senda, Y.; Waterman, M.D.

    1983-01-01

    A RELAP5/MOD1 (Cycle 18) computer code simulation of the ANO-2 turbine trip test from 98% power level was performed for use in vendor code qualification studies. Results focused on potential improvements to simulation capabilities and plant data acquisition systems to provide meaningful comparisons between the calculations and the test data. The turbine trip test was selected because it resulted in an unplanned sequence of events that broadly affected the plant process systems and their controls. The pressurizer spray valve stuck open at an undetermined flow area, and an atmospheric dump valve remained stuck fully open while several atmospheric dump and secondary side safety valves were unavailable throughout. Thus, although the plant remained always in a safe condition, this transient potentially provided an unusual set of data against which the fidelity of a NSSS simulation by RELAP5/MOD1 along with certain vendor analysis codes might be judged

  8. The Kepler Light Curves of AGN: A Detailed Analysis

    Science.gov (United States)

    Smith, Krista Lynne; Mushotzky, Richard F.; Boyd, Patricia T.; Malkan, Matt; Howell, Steve B.; Gelino, Dawn M.

    2018-04-01

    We present a comprehensive analysis of 21 light curves of Type 1 active galactic nuclei (AGN) from the Kepler spacecraft. First, we describe the necessity and development of a customized pipeline for treating Kepler data of stochastically variable sources like AGN. We then present the light curves, power spectral density functions (PSDs), and flux histograms. The light curves display an astonishing variety of behaviors, many of which would not be detected in ground-based studies, including switching between distinct flux levels. Six objects exhibit PSD flattening at characteristic timescales that roughly correlate with black hole mass. These timescales are consistent with orbital timescales or free-fall accretion timescales. We check for correlations of variability and high-frequency PSD slope with accretion rate, black hole mass, redshift, and luminosity. We find that bolometric luminosity is anticorrelated with both variability and steepness of the PSD slope. We do not find evidence of the linear rms–flux relationships or lognormal flux distributions found in X-ray AGN light curves, indicating that reprocessing is not a significant contributor to optical variability at the 0.1%–10% level.

  9. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

    Science.gov (United States)

    Adato, A; Weil, D; Kalinski, H; Pel-Or, Y; Ayadi, H; Petit, C; Korostishevsky, M; Bonne-Tamir, B

    1997-10-01

    Usher syndrome types I (USH1A-USH1E) are a group of autosomal recessive diseases characterized by profound congenital hearing loss, vestibular areflexia, and progressive visual loss due to retinitis pigmentosa. The human myosin VIIA gene, located on 11q14, has been shown to be responsible for Usher syndrome type 1B (USH1B). Haplotypes were constructed in 28 USH1 families by use of the following polymorphic markers spanning the USH1B locus: D11S787, D11S527, D11S1789, D11S906, D11S4186, and OMP. Affected individuals and members of their families from 12 different ethnic origins were screened for the presence of mutations in all 49 exons of the myosin VIIA gene. In 15 families myosin VIIA mutations were detected, verifying their classification as USH1B. All these mutations are novel, including three missense mutations, one premature stop codon, two splicing mutations, one frameshift, and one deletion of >2 kb comprising exons 47 and 48, a part of exon 49, and the introns between them. Three mutations were shared by more than one family, consistent with haplotype similarities. Altogether, 16 USH1B haplotypes were observed in the 15 families; most haplotypes were population specific. Several exonic and intronic polymorphisms were also detected. None of the 20 known USH1B mutations reported so far in other world populations were identified in our families.

  10. Analysis of HLA class II haplotypes in the Cayapa indians of ecuador: A novel DRBI allele reveals evidence for convergent evolution and balancing selection at position 86

    Energy Technology Data Exchange (ETDEWEB)

    Titus-Trachtenberg, E.A.; Erlich, H. (Roche Molecular Systems, Alameda, CA (United States)); Rickards, O.; De Stefano, G.F. (Universita di Roma, Rome (Italy))

    1994-07-01

    PCR amplification, oligonucleotide probe typing, and sequencing were used to analyze the HLA class II loci (DRB1, DQA1, DAB1, and DPB1) of an isolated South Amerindian tribe. Here the authors report HLA class II variation, including the identification of a new DRB1 allele, several novel DR/DQ haplotypes, and an unusual distribution of DPB1 alleles, among the Cayapa Indians (N=100) of Ecuador. A general reduction of HLA class II allelic variation in the Cayapa is consistent with a population bottleneck during the colonization of the Americas. The new Cayapa DRB1 allele, DRB1[sup *]08042, which arose by a G[yields]T point mutation in the parental DRB1[sup *]0802, contains a novel Val codon (GTT) at position 86. The generation of DRB1[sup *]08042 (Val-86) from DRB1[sup *]0802 (Gly-86) in the Cayapa, by a different mechanism than the (GT[yields]TG) change in the creation of DRB1[sub *]08041 (Val-86) from DRB1[sup *]0802 in Africa, implicates selection in the convergent evolution of position 86 DR[beta] variants. The DRB1[sup *]08042 allele has not been found in >1,800 Amerindian haplotypes and thus presumably arose after the Cayapa separated from other South American Amerindians. Selection pressure for increased haplotype diversity can be inferred in the generation and maintenance of three new DRB1[sup *]08042 haplotypes and several novel DR/DQ haplotypes in this population. The DPB1 allelic distribution in the Cayapa is also extraordinary, with two alleles, DPB1[sup *]1401, a very rare allele in North American Amerindian populations, and DPB1[sup *]0402, the most common Amerindian DPB1 allele, constituting 89% of the Cayapa DPB1. These data are consistent with the postulated rapid rate of evolution as noted for the class I HLA-B locus of other South American Indians. 34 refs., 2 figs., 2 tabs.

  11. De novo assembly of a haplotype-resolved human genome.

    Science.gov (United States)

    Cao, Hongzhi; Wu, Honglong; Luo, Ruibang; Huang, Shujia; Sun, Yuhui; Tong, Xin; Xie, Yinlong; Liu, Binghang; Yang, Hailong; Zheng, Hancheng; Li, Jian; Li, Bo; Wang, Yu; Yang, Fang; Sun, Peng; Liu, Siyang; Gao, Peng; Huang, Haodong; Sun, Jing; Chen, Dan; He, Guangzhu; Huang, Weihua; Huang, Zheng; Li, Yue; Tellier, Laurent C A M; Liu, Xiao; Feng, Qiang; Xu, Xun; Zhang, Xiuqing; Bolund, Lars; Krogh, Anders; Kristiansen, Karsten; Drmanac, Radoje; Drmanac, Snezana; Nielsen, Rasmus; Li, Songgang; Wang, Jian; Yang, Huanming; Li, Yingrui; Wong, Gane Ka-Shu; Wang, Jun

    2015-06-01

    The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine.

  12. The iSelect 9 K SNP analysis revealed polyploidization induced revolutionary changes and intense human selection causing strong haplotype blocks in wheat.

    Science.gov (United States)

    Hao, Chenyang; Wang, Yuquan; Chao, Shiaoman; Li, Tian; Liu, Hongxia; Wang, Lanfen; Zhang, Xueyong

    2017-01-30

    A Chinese wheat mini core collection was genotyped using the wheat 9 K iSelect SNP array. Total 2420 and 2396 polymorphic SNPs were detected on the A and the B genome chromosomes, which formed 878 haplotype blocks. There were more blocks in the B genome, but the average block size was significantly (P polyploidization of wheat (both tetraploidization and hexaploidization) induced revolutionary changes in both the A and the B genomes, with a greater increase of gene diversity compared to their diploid ancestors. Modern breeding has dramatically increased diversity in the gene coding regions, though obvious blocks were formed on most of the chromosomes in both tetraploid and hexaploid wheats. Tag-SNP markers identified in this study can be used for marker assisted selection using haplotype blocks as a wheat breeding strategy. This strategy can also be employed to facilitate genome selection in other self-pollinating crop species.

  13. Designing and conducting in silico analysis for identifying of Echinococcus spp. with discrimination of novel haplotypes: an approach to better understanding of parasite taxonomic.

    Science.gov (United States)

    Spotin, Adel; Gholami, Shirzad; Nasab, Abbas Najafi; Fallah, Esmaeil; Oskouei, Mahmoud Mahami; Semnani, Vahid; Shariatzadeh, Seyyed Ali; Shahbazi, Abbas

    2015-04-01

    The definitive identification of Echinococcus species is currently carried out by sequencing and phylogenetic strategies. However, the application of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) patterns is not broadly used as a result of heterogeneity traits of Echinococcus genome in different regions of the world. Therefore, designing and conducting a standardized pattern should indigenously be considered in under-studied areas. In this investigation, an in silico mapping was designed and developed for eight Echinococcus spp. on the basis of regional sequences in Iran and the world. The numbers of 60 Echinococcus isolates were collected from the liver and lungs of 15 human, 15 sheep, 15 cattle, and 15 camel cases in Semnan province, Central Iran. DNA samples were extracted and examined by polymerase chain reaction of ribosomal DNA (rDNA) internal transcribed spacer 1 (ITS1) and PCR-RFLP via Rsa1 endonuclease enzyme. Moreover, 15 amplicons of cytochrome oxidase 1 (Cox1) were directly sequenced in order to identify the strains/haplotypes. PCR-RFLP and phylogenetic analyses revealed firmly the presence of the G1 and G6 genotypes with heterogeneity (three novel haplotypes) of Cox1 gene although no other expected genotypes were found in the region. Finding shows that the identification of novel haplotypes along with discrimination of Echinococcus spp. through regional patterns can unambiguously illustrate the real taxonomic status of parasite in Central Iran.

  14. Approximation properties of haplotype tagging

    Directory of Open Access Journals (Sweden)

    Dreiseitl Stephan

    2006-01-01

    Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs are locations at which the genomic sequences of population members differ. Since these differences are known to follow patterns, disease association studies are facilitated by identifying SNPs that allow the unique identification of such patterns. This process, known as haplotype tagging, is formulated as a combinatorial optimization problem and analyzed in terms of complexity and approximation properties. Results It is shown that the tagging problem is NP-hard but approximable within 1 + ln((n2 - n/2 for n haplotypes but not approximable within (1 - ε ln(n/2 for any ε > 0 unless NP ⊂ DTIME(nlog log n. A simple, very easily implementable algorithm that exhibits the above upper bound on solution quality is presented. This algorithm has running time O((2m - p + 1 ≤ O(m(n2 - n/2 where p ≤ min(n, m for n haplotypes of size m. As we show that the approximation bound is asymptotically tight, the algorithm presented is optimal with respect to this asymptotic bound. Conclusion The haplotype tagging problem is hard, but approachable with a fast, practical, and surprisingly simple algorithm that cannot be significantly improved upon on a single processor machine. Hence, significant improvement in computatational efforts expended can only be expected if the computational effort is distributed and done in parallel.

  15. Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

    Directory of Open Access Journals (Sweden)

    Elie Aoun

    2008-04-01

    Full Text Available The complex interactions between recurrent trypsin-mediated pancreatic injury, alcohol-associated pancreatic injury and SPINK1 polymorphisms in chronic pancreatitis (CP are undefined. We hypothesize that CP occurs as a result of multiple pathological mechanisms (pathways that are initiated by different metabolic or environmental factors (etiologies and may be influenced differentially by downstream genetic risk factors. We tested this hypothesis by evaluating the differences in effect size of the high risk SPINK1 N34S haplotype on CP from multiple etiologies after combining clinical reports of SPINK1 N34S frequency using meta-analysis.The Pubmed and the Embase databases were reviewed. We studied 24 reports of SPINK1 N34S in CP (2,421 cases, 4,857 controls using reported etiological factors as surrogates for pathways and multiple meta-analyses to determine the differential effects of SPINK1 N34S between alcoholic and non-alcoholic etiologies. Using estimates of between-study heterogeneity, we sub-classified our 24 studies into four specific clusters. We found that SPINK1 N34S is strongly associated with CP overall (OR 11.00; 95% CI: 7.59-15.93, but the effect of SPINK1 N34S in alcoholic CP (OR 4.98, 95% CI: 3.16-7.85 was significantly smaller than in idiopathic CP (OR 14.97, 95% C.I. = 9.09-24.67 or tropical CP (OR 19.15, 95% C.I. = 8.83-41.56. Studies analyzing familial CP showed very high heterogeneity suggestive of a complex etiology with an I(2 = 80.95%.The small effect of SPINK1 N34S in alcoholic subjects suggests that CP is driven through a different pathway that is largely trypsin-independent. The results also suggest that large effect sizes of SPINK1 N34S in small candidate gene studies in CP may be related to a mixture of multiple etiologic pathways leading to the same clinical endpoint.

  16. Grouping preprocess for haplotype inference from SNP and CNV data

    International Nuclear Information System (INIS)

    Shindo, Hiroyuki; Chigira, Hiroshi; Nagaoka, Tomoyo; Inoue, Masato; Kamatani, Naoyuki

    2009-01-01

    The method of statistical haplotype inference is an indispensable technique in the field of medical science. The authors previously reported Hardy-Weinberg equilibrium-based haplotype inference that could manage single nucleotide polymorphism (SNP) data. We recently extended the method to cover copy number variation (CNV) data. Haplotype inference from mixed data is important because SNPs and CNVs are occasionally in linkage disequilibrium. The idea underlying the proposed method is simple, but the algorithm for it needs to be quite elaborate to reduce the calculation cost. Consequently, we have focused on the details on the algorithm in this study. Although the main advantage of the method is accuracy, in that it does not use any approximation, its main disadvantage is still the calculation cost, which is sometimes intractable for large data sets with missing values.

  17. Grouping preprocess for haplotype inference from SNP and CNV data

    Energy Technology Data Exchange (ETDEWEB)

    Shindo, Hiroyuki; Chigira, Hiroshi; Nagaoka, Tomoyo; Inoue, Masato [Department of Electrical Engineering and Bioscience, School of Advanced Science and Engineering, Waseda University, 3-4-1, Okubo, Shinjuku-ku, Tokyo 169-8555 (Japan); Kamatani, Naoyuki, E-mail: masato.inoue@eb.waseda.ac.j [Institute of Rheumatology, Tokyo Women' s Medical University, 10-22, Kawada-cho, Shinjuku-ku, Tokyo 162-0054 (Japan)

    2009-12-01

    The method of statistical haplotype inference is an indispensable technique in the field of medical science. The authors previously reported Hardy-Weinberg equilibrium-based haplotype inference that could manage single nucleotide polymorphism (SNP) data. We recently extended the method to cover copy number variation (CNV) data. Haplotype inference from mixed data is important because SNPs and CNVs are occasionally in linkage disequilibrium. The idea underlying the proposed method is simple, but the algorithm for it needs to be quite elaborate to reduce the calculation cost. Consequently, we have focused on the details on the algorithm in this study. Although the main advantage of the method is accuracy, in that it does not use any approximation, its main disadvantage is still the calculation cost, which is sometimes intractable for large data sets with missing values.

  18. Genomic identification of founding haplotypes reveals the history of the selfing species Capsella rubella.

    Directory of Open Access Journals (Sweden)

    Yaniv Brandvain

    Full Text Available The shift from outcrossing to self-fertilization is among the most common evolutionary transitions in flowering plants. Until recently, however, a genome-wide view of this transition has been obscured by both a dearth of appropriate data and the lack of appropriate population genomic methods to interpret such data. Here, we present a novel population genomic analysis detailing the origin of the selfing species, Capsella rubella, which recently split from its outcrossing sister, Capsella grandiflora. Due to the recency of the split, much of the variation within C. rubella is also found within C. grandiflora. We can therefore identify genomic regions where two C. rubella individuals have inherited the same or different segments of ancestral diversity (i.e. founding haplotypes present in C. rubella's founder(s. Based on this analysis, we show that C. rubella was founded by multiple individuals drawn from a diverse ancestral population closely related to extant C. grandiflora, that drift and selection have rapidly homogenized most of this ancestral variation since C. rubella's founding, and that little novel variation has accumulated within this time. Despite the extensive loss of ancestral variation, the approximately 25% of the genome for which two C. rubella individuals have inherited different founding haplotypes makes up roughly 90% of the genetic variation between them. To extend these findings, we develop a coalescent model that utilizes the inferred frequency of founding haplotypes and variation within founding haplotypes to estimate that C. rubella was founded by a potentially large number of individuals between 50 and 100 kya, and has subsequently experienced a twenty-fold reduction in its effective population size. As population genomic data from an increasing number of outcrossing/selfing pairs are generated, analyses like the one developed here will facilitate a fine-scaled view of the evolutionary and demographic impact of the

  19. Detecting structure of haplotypes and local ancestry

    Science.gov (United States)

    We present a two-layer hidden Markov model to detect the structure of haplotypes for unrelated individuals. This allows us to model two scales of linkage disequilibrium (one within a group of haplotypes and one between groups), thereby taking advantage of rich haplotype information to infer local an...

  20. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus

    Energy Technology Data Exchange (ETDEWEB)

    Eisensmith, R.C.; Woo, S.L.C. (Baylor College of Medicine, Houston, TX (United States))

    1992-12-01

    Analysis of mutant PAH chromosomes has identified approximately 60 different single-base substitutions and deletions within the PAH locus. Nearly all of these molecular lesions are in strong linkage disequilibrium with specific RFLP haplotypes in different ethnic populations. Thus, haplotype analysis is not only useful for diagnostic purposes but is proving to be a valuable tool in population genetic studies of the origin and spread of phenylketonuria alleles in human populations. PCR-based methods have been developed to detect six of the eight polymorphic restriction sites used for determination of RFLP haplotypes at the PAH locus. A table of the proposed expanded haplotypes is given.

  1. Haplotype Analysis of the Pre-harvest Sprouting Resistance Locus Phs-A1 Reveals a Causal Role of TaMKK3-A in Global Germplasm

    Czech Academy of Sciences Publication Activity Database

    Shorinola, O.; Balcárková, Barbora; Hyles, J.; Tibbits, J. F. G.; Hayden, M. J.; Holušová, Kateřina; Valárik, Miroslav; Distelfeld, A.; Torada, A.; Barrero, R. A.; Uauy, C.

    2017-01-01

    Roč. 8, SEP 13 (2017), č. článku 1555. ISSN 1664-462X R&D Projects: GA MŠk(CZ) LO1204; GA ČR(CZ) GA14-07164S Institutional support: RVO:61389030 Keywords : triticum-aestivum l. * controlling seed dormancy * white-grained wheat * pcr-based markers * chromosome 4a * winter-wheat * major qtl * abscisic-acid * bread wheat * genes * dormancy * seed * pm19 * TaMKK3-A * pre-harvest sprouting * Triticum aestivum * haplotype Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Plant sciences, botany Impact factor: 4.298, year: 2016

  2. [Comparison of film-screen combination in a contrast detail diagram and with interactive image analysis. 1: Contrast detail diagram].

    Science.gov (United States)

    Hagemann, G; Eichbaum, G

    1997-07-01

    The following three film-screen combinations were compared: a) a combination of anticrossover film and UV-light emitting screens, b) a combination of blue-light emitting screens and film, and c) a conventional green fluorescing screen film combination. Radiographs of a specially designed plexiglass phantom (0.2 x 0.2 x 0.12 m3) were obtained that contained bar patterns of lead and plaster (calcium sulfate) to test high and intermediate contrast resolution and bar patterns of air to test low contrast resolution, respectively. An aluminum step wedge was integrated to evaluate dose-density curves of the radiographs. The dose values for the various step thicknesses were measured as percentage of the dose value in air for 60, 81, and 117 kV. Exposure conditions were the following: 12 pulse generator, 0.6 mm focus size, 4.7 mm aluminum prefilter, a grid with 40 lines/cm (12:1), and a focus-detector distance of 1.15 m. The thresholds of visible bars of the various pattern materials were assessed by seven radiologists, one technician, and the authors. The resulting contrast detail diagram could not prove any significant differences between the three tested screen film combinations. The pairwise comparison, however, found 8 of the 18 paired differences to be statistically significant between the conventional and the two new screen-film combinations. The authors concluded that subjective visual assessment of the threshold in a contrast detail study alone is of only limited value to grade image quality if no well-defined criteria are used (BIR report 20 [1989] 137-139). The statistical approach of paired differences of the estimated means appeared to be more appropriate.

  3. A new mathematical modeling for pure parsimony haplotyping problem.

    Science.gov (United States)

    Feizabadi, R; Bagherian, M; Vaziri, H R; Salahi, M

    2016-11-01

    Pure parsimony haplotyping (PPH) problem is important in bioinformatics because rational haplotyping inference plays important roles in analysis of genetic data, mapping complex genetic diseases such as Alzheimer's disease, heart disorders and etc. Haplotypes and genotypes are m-length sequences. Although several integer programing models have already been presented for PPH problem, its NP-hardness characteristic resulted in ineffectiveness of those models facing the real instances especially instances with many heterozygous sites. In this paper, we assign a corresponding number to each haplotype and genotype and based on those numbers, we set a mixed integer programing model. Using numbers, instead of sequences, would lead to less complexity of the new model in comparison with previous models in a way that there are neither constraints nor variables corresponding to heterozygous nucleotide sites in it. Experimental results approve the efficiency of the new model in producing better solution in comparison to two state-of-the art haplotyping approaches. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case–control study

    International Nuclear Information System (INIS)

    Tamimi, Rulla M; Hankinson, Susan E; Spiegelman, Donna; Kraft, Peter; Colditz, Graham A; Hunter, David J

    2004-01-01

    The ataxia telangiectasia mutated (ATM) gene is a tumor suppressor gene with functions in cell cycle arrest, apoptosis, and repair of DNA double-strand breaks. Based on family studies, women heterozygous for mutations in the ATM gene are reported to have a fourfold to fivefold increased risk of breast cancer compared with noncarriers of the mutations, although not all studies have confirmed this association. Haplotype analysis has been suggested as an efficient method for investigating the role of common variation in the ATM gene and breast cancer. Five biallelic haplotype tagging single nucleotide polymorphisms are estimated to capture 99% of the haplotype diversity in Caucasian populations. We conducted a nested case–control study of breast cancer within the Nurses' Health Study cohort to address the role of common ATM haplotypes and breast cancer. Cases and controls were genotyped for five haplotype tagging single nucleotide polymorphisms. Haplotypes were predicted for 1309 cases and 1761 controls for which genotype information was available. Six unique haplotypes were predicted in this study, five of which occur at a frequency of 5% or greater. The overall distribution of haplotypes was not significantly different between cases and controls (χ 2 = 3.43, five degrees of freedom, P = 0.63). There was no evidence that common haplotypes of ATM are associated with breast cancer risk. Extensive single nucleotide polymorphism detection using the entire genomic sequence of ATM will be necessary to rule out less common variation in ATM and sporadic breast cancer risk

  5. 78 FR 69669 - Intent To Conduct a Detailed Economic Impact Analysis

    Science.gov (United States)

    2013-11-20

    ... EXPORT-IMPORT BANK Intent To Conduct a Detailed Economic Impact Analysis This notice is to inform... guarantee, the value of the transaction, and the amount of new foreign production capacity are not included... date this notice appears in the Federal Register. James C. Cruse, Senior Vice President, Policy and...

  6. 78 FR 47317 - Intent To Conduct a Detailed Economic Impact Analysis

    Science.gov (United States)

    2013-08-05

    ... EXPORT-IMPORT BANK OF THE UNITED STATES Intent To Conduct a Detailed Economic Impact Analysis This... route service within China and from China to various regional and international destinations... to economic[email protected] or by mail to 811 Vermont Avenue NW., Room 442, Washington, DC 20571...

  7. An Improved Spectral Analysis Method for Fatigue Damage Assessment of Details in Liquid Cargo Tanks

    Science.gov (United States)

    Zhao, Peng-yuan; Huang, Xiao-ping

    2018-03-01

    Errors will be caused in calculating the fatigue damages of details in liquid cargo tanks by using the traditional spectral analysis method which is based on linear system, for the nonlinear relationship between the dynamic stress and the ship acceleration. An improved spectral analysis method for the assessment of the fatigue damage in detail of a liquid cargo tank is proposed in this paper. Based on assumptions that the wave process can be simulated by summing the sinusoidal waves in different frequencies and the stress process can be simulated by summing the stress processes induced by these sinusoidal waves, the stress power spectral density (PSD) is calculated by expanding the stress processes induced by the sinusoidal waves into Fourier series and adding the amplitudes of each harmonic component with the same frequency. This analysis method can take the nonlinear relationship into consideration and the fatigue damage is then calculated based on the PSD of stress. Take an independent tank in an LNG carrier for example, the accuracy of the improved spectral analysis method is proved much better than that of the traditional spectral analysis method by comparing the calculated damage results with the results calculated by the time domain method. The proposed spectral analysis method is more accurate in calculating the fatigue damages in detail of ship liquid cargo tanks.

  8. Detailed Analysis of Torque Ripple in High Frequency Signal Injection based Sensor less PMSM Drives

    Directory of Open Access Journals (Sweden)

    Ravikumar Setty A.

    2017-01-01

    Full Text Available High Frequency Signal Injection based techniques are robust and well proven to estimate the rotor position from stand still to low speed. However, Injected high frequency signal introduces, high frequency harmonics in the motor phase currents and results in significant Output Torque ripple. There is no detailed analysis exist in the literature, to study the effect of injected signal frequency on Torque ripple. Objective of this work is to study the Torque Ripple resulting from High Frequency signal injection in PMSM motor drives. Detailed MATLAB/Simulink simulations are carried to quantify the Torque ripple at different Signal frequencies.

  9. Technical basis for the ITER detailed design report, cost review and safety analysis (DDR)

    International Nuclear Information System (INIS)

    1997-01-01

    The ITER Detailed Design Report (DDR), Cost Review and Safety Analysis is the 3rd major milestone representing the progress made in the ITER Engineering Design Activities. With the approval of the Interim Design Report (IDR), it has been possible to freeze the main concepts and system approaches for ITER and to develop the design in more detail for the individual components and sub-systems. This report, although designed to be fully understandable as a separate document, focusses particularly on the main changes since the IDR

  10. Technical basis for the ITER detailed design report, cost review and safety analysis (DDR)

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1997-12-01

    The ITER Detailed Design Report (DDR), Cost Review and Safety Analysis is the 3rd major milestone representing the progress made in the ITER Engineering Design Activities. With the approval of the Interim Design Report (IDR), it has been possible to freeze the main concepts and system approaches for ITER and to develop the design in more detail for the individual components and sub-systems. This report, although designed to be fully understandable as a separate document, focusses particularly on the main changes since the IDR. Refs, figs, tabs

  11. Light water reactor fuel analysis code FEMAXI-IV(Ver.2). Detailed structure and user's manual

    International Nuclear Information System (INIS)

    Suzuki, Motoe; Saitou, Hiroaki.

    1997-11-01

    A light water reactor fuel behavior analysis code FEMAXI-IV(Ver.2) was developed as an improved version of FEMAXI-IV. Development of FEMAXI-IV has been already finished in 1992, though a detailed structure and input manual of the code have not been open to users yet. Here, the basic theories and structure, the models and numerical solutions applied to FEMAXI-IV(Ver.2), and the material properties adopted in the code are described in detail. In FEMAXI-IV(Ver.2), programming bugs in previous FEMAXI-IV were eliminated, renewal of the pellet thermal conductivity was performed, and a model of thermal-stress restraint on FP gas release was incorporated. For facilitation of effective and wide-ranging application of the code, methods of input/output of the code are also described in detail, and sample output is included. (author)

  12. A haplotype regression approach for genetic evaluation using sequences from the 1000 bull genomes Project

    International Nuclear Information System (INIS)

    Lakhssassi, K.; González-Recio, O.

    2017-01-01

    Haplotypes from sequencing data may improve the prediction accuracy in genomic evaluations as haplotypes are in stronger linkage disequilibrium with quantitative trait loci than markers from SNP chips. This study focuses first, on the creation of haplotypes in a population sample of 450 Holstein animals, with full-sequence data from the 1000 bull genomes project; and second, on incorporating them into the whole genome prediction model. In total, 38,319,258 SNPs (and indels) from Next Generation Sequencing were included in the analysis. After filtering variants with minor allele frequency (MAF< 0.025) 13,912,326 SNPs were available for the haplotypes extraction with findhap.f90. The number of SNPs in the haploblocks was on average 924 SNP (166,552 bp). Unique haplotypes were around 97% in all chromosomes and were ignored leaving 153,428 haplotypes. Estimated haplotypes had a large contribution to the total variance of genomic estimated breeding values for kilogram of protein, Global Type Index, Somatic Cell Score and Days Open (between 32 and 99.9%). Haploblocks containing haplotypes with large effects were selected by filtering for each trait, haplotypes whose effect was larger/lower than the mean plus/minus 3 times the standard deviation (SD) and 1 SD above the mean of the haplotypes effect distribution. Results showed that filtering by 3 SD would not be enough to capture a large proportion of genetic variance, whereas filtering by 1 SD could be useful but model convergence should be considered. Additionally, sequence haplotypes were able to capture additional genetic variance to the polygenic effect for traits undergoing lower selection intensity like fertility and health traits.

  13. A haplotype regression approach for genetic evaluation using sequences from the 1000 bull genomes Project

    Energy Technology Data Exchange (ETDEWEB)

    Lakhssassi, K.; González-Recio, O.

    2017-07-01

    Haplotypes from sequencing data may improve the prediction accuracy in genomic evaluations as haplotypes are in stronger linkage disequilibrium with quantitative trait loci than markers from SNP chips. This study focuses first, on the creation of haplotypes in a population sample of 450 Holstein animals, with full-sequence data from the 1000 bull genomes project; and second, on incorporating them into the whole genome prediction model. In total, 38,319,258 SNPs (and indels) from Next Generation Sequencing were included in the analysis. After filtering variants with minor allele frequency (MAF< 0.025) 13,912,326 SNPs were available for the haplotypes extraction with findhap.f90. The number of SNPs in the haploblocks was on average 924 SNP (166,552 bp). Unique haplotypes were around 97% in all chromosomes and were ignored leaving 153,428 haplotypes. Estimated haplotypes had a large contribution to the total variance of genomic estimated breeding values for kilogram of protein, Global Type Index, Somatic Cell Score and Days Open (between 32 and 99.9%). Haploblocks containing haplotypes with large effects were selected by filtering for each trait, haplotypes whose effect was larger/lower than the mean plus/minus 3 times the standard deviation (SD) and 1 SD above the mean of the haplotypes effect distribution. Results showed that filtering by 3 SD would not be enough to capture a large proportion of genetic variance, whereas filtering by 1 SD could be useful but model convergence should be considered. Additionally, sequence haplotypes were able to capture additional genetic variance to the polygenic effect for traits undergoing lower selection intensity like fertility and health traits.

  14. Chronic inflammatory state in sickle cell anemia patients is associated with HBB(*)S haplotype.

    Science.gov (United States)

    Bandeira, Izabel C J; Rocha, Lillianne B S; Barbosa, Maritza C; Elias, Darcielle B D; Querioz, José A N; Freitas, Max Vitor Carioca; Gonçalves, Romélia P

    2014-02-01

    The chronic inflammatory state in sickle cell anemia (SCA) is associated with several factors such as the following: endothelial damage; increased production of reactive oxygen species; hemolysis; increased expression of adhesion molecules by leukocytes, erythrocytes, and platelets; and increased production of proinflammatory cytokines. Genetic characteristics affecting the clinical severity of SCA include variations in the hemoglobin F (HbF) level, coexistence of alpha-thalassemia, and the haplotype associated with the HbS gene. The different haplotypes of SCA are Bantu, Benin, Senegal, Cameroon, and Arab-Indian. These haplotypes are associated with ethnic groups and also based on the geographical origin. Studies have shown that the Bantu haplotype is associated with higher incidence of clinical complications than the other haplotypes and is therefore considered to have the worst prognosis. This study aimed to evaluate the profile of the proinflammatory cytokines interleukin-6, tumor necrosis factor-α, and interleukin-17 in patients with SCA and also to assess the haplotypes associated with beta globin cluster S (HBB(*)S). We analyzed a total of 62 patients who had SCA and had been treated with hydroxyurea; they had received a dose ranging between 15 and 25 (20.0±0.6)mg/kg/day for 6-60 (18±3.4)months; their data were compared with those for 30 normal individuals. The presence of HbS was detected and the haplotypes of the beta S gene cluster were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our study demonstrated that SCA patients have increased inflammatory profile when compared to the healthy individuals. Further, analysis of the association between the haplotypes and inflammatory profile showed that the levels of IL-6 and TNF-α were greater in subjects with the Bantu/Bantu haplotype than in subjects with the Benin/Benin haplotype. The Bantu/Benin haplotype individuals had lower levels of cytokines than those with

  15. Estimating haplotype effects for survival data

    DEFF Research Database (Denmark)

    Scheike, Thomas; Martinussen, Torben; Silver, J

    2010-01-01

    Genetic association studies often investigate the effect of haplotypes on an outcome of interest. Haplotypes are not observed directly, and this complicates the inclusion of such effects in survival models. We describe a new estimating equations approach for Cox's regression model to assess haplo...

  16. Haplotype-Based Genotyping in Polyploids

    Directory of Open Access Journals (Sweden)

    Josh P. Clevenger

    2018-04-01

    Full Text Available Accurate identification of polymorphisms from sequence data is crucial to unlocking the potential of high throughput sequencing for genomics. Single nucleotide polymorphisms (SNPs are difficult to accurately identify in polyploid crops due to the duplicative nature of polyploid genomes leading to low confidence in the true alignment of short reads. Implementing a haplotype-based method in contrasting subgenome-specific sequences leads to higher accuracy of SNP identification in polyploids. To test this method, a large-scale 48K SNP array (Axiom Arachis2 was developed for Arachis hypogaea (peanut, an allotetraploid, in which 1,674 haplotype-based SNPs were included. Results of the array show that 74% of the haplotype-based SNP markers could be validated, which is considerably higher than previous methods used for peanut. The haplotype method has been implemented in a standalone program, HAPLOSWEEP, which takes as input bam files and a vcf file and identifies haplotype-based markers. Haplotype discovery can be made within single reads or span paired reads, and can leverage long read technology by targeting any length of haplotype. Haplotype-based genotyping is applicable in all allopolyploid genomes and provides confidence in marker identification and in silico-based genotyping for polyploid genomics.

  17. Detailed description and user`s manual of high burnup fuel analysis code EXBURN-I

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Motoe [Japan Atomic Energy Research Inst., Tokai, Ibaraki (Japan). Tokai Research Establishment; Saitou, Hiroaki

    1997-11-01

    EXBURN-I has been developed for the analysis of LWR high burnup fuel behavior in normal operation and power transient conditions. In the high burnup region, phenomena occur which are different in quality from those expected for the extension of behaviors in the mid-burnup region. To analyze these phenomena, EXBURN-I has been formed by the incorporation of such new models as pellet thermal conductivity change, burnup-dependent FP gas release rate, and cladding oxide layer growth to the basic structure of low- and mid-burnup fuel analysis code FEMAXI-IV. The present report describes in detail the whole structure of the code, models, and materials properties. Also, it includes a detailed input manual and sample output, etc. (author). 55 refs.

  18. Organelle DNA haplotypes reflect crop-use characteristics and geographic origins of Cannabis sativa.

    Science.gov (United States)

    Gilmore, Simon; Peakall, Rod; Robertson, James

    2007-10-25

    Comparative sequencing of cannabis individuals across 12 chloroplast and mitochondrial DNA loci revealed 7 polymorphic sites, including 5 length variable regions and 2 single nucleotide polymorphisms. Simple PCR assays were developed to assay these polymorphisms, and organelle DNA haplotypes were obtained for 188 cannabis individuals from 76 separate populations, including drug-type, fibre-type and wild populations. The haplotype data were analysed using parsimony, UPGMA and neighbour joining methods. Three haplotype groups were recovered by each analysis method, and these groups are suggestive of the crop-use characteristics and geographical origin of the populations, although not strictly diagnostic. We discuss the relationship between our haplotype data and taxonomic opinions of cannabis, and the implications of organelle DNA haplotyping to forensic investigations of cannabis.

  19. The putative oncogene Pim-1 in the mouse: its linkage and variation among t haplotypes.

    Science.gov (United States)

    Nadeau, J H; Phillips, S J

    1987-11-01

    Pim-1, a putative oncogene involved in T-cell lymphomagenesis, was mapped between the pseudo-alpha globin gene Hba-4ps and the alpha-crystallin gene Crya-1 on mouse chromosome 17 and therefore within the t complex. Pim-1 restriction fragment variants were identified among t haplotypes. Analysis of restriction fragment sizes obtained with 12 endonucleases demonstrated that the Pim-1 genes in some t haplotypes were indistinguishable from the sizes for the Pim-1b allele in BALB/c inbred mice. There are now three genes, Pim-1, Crya-1 and H-2 I-E, that vary among independently derived t haplotypes and that have indistinguishable alleles in t haplotypes and inbred strains. These genes are closely linked within the distal inversion of the t complex. Because it is unlikely that these variants arose independently in t haplotypes and their wild-type homologues, we propose that an exchange of chromosomal segments, probably through double crossingover, was responsible for indistinguishable Pim-1 genes shared by certain t haplotypes and their wild-type homologues. There was, however, no apparent association between variant alleles of these three genes among t haplotypes as would be expected if a single exchange introduced these alleles into t haplotypes. If these variant alleles can be shown to be identical to the wild-type allele, then lack of association suggests that multiple exchanges have occurred during the evolution of the t complex.

  20. Engineered safeguards and passive safety features (safety analysis detailed report no. 6)

    Energy Technology Data Exchange (ETDEWEB)

    1988-01-15

    The Safety-Analysis Summary lists the reactor's safety aspects for passive and active prevention of severe accidents and mitigation of accident consequences, i.e., intrinsic and passive protections of the plant; intrinsic and passive protections of the core; inherent decay-heat removal systems; rapid-shutdown systems; four physical containment barriers. This report goes into further details regarding some of this aspects.

  1. Exploring and Harnessing Haplotype Diversity to Improve Yield Stability in Crops

    Directory of Open Access Journals (Sweden)

    Lunwen Qian

    2017-09-01

    Full Text Available In order to meet future food, feed, fiber, and bioenergy demands, global yields of all major crops need to be increased significantly. At the same time, the increasing frequency of extreme weather events such as heat and drought necessitates improvements in the environmental resilience of modern crop cultivars. Achieving sustainably increase yields implies rapid improvement of quantitative traits with a very complex genetic architecture and strong environmental interaction. Latest advances in genome analysis technologies today provide molecular information at an ultrahigh resolution, revolutionizing crop genomic research, and paving the way for advanced quantitative genetic approaches. These include highly detailed assessment of population structure and genotypic diversity, facilitating the identification of selective sweeps and signatures of directional selection, dissection of genetic variants that underlie important agronomic traits, and genomic selection (GS strategies that not only consider major-effect genes. Single-nucleotide polymorphism (SNP markers today represent the genotyping system of choice for crop genetic studies because they occur abundantly in plant genomes and are easy to detect. SNPs are typically biallelic, however, hence their information content compared to multiallelic markers is low, limiting the resolution at which SNP–trait relationships can be delineated. An efficient way to overcome this limitation is to construct haplotypes based on linkage disequilibrium, one of the most important features influencing genetic analyses of crop genomes. Here, we give an overview of the latest advances in genomics-based haplotype analyses in crops, highlighting their importance in the context of polyploidy and genome evolution, linkage drag, and co-selection. We provide examples of how haplotype analyses can complement well-established quantitative genetics frameworks, such as quantitative trait analysis and GS, ultimately

  2. Exploring and Harnessing Haplotype Diversity to Improve Yield Stability in Crops.

    Science.gov (United States)

    Qian, Lunwen; Hickey, Lee T; Stahl, Andreas; Werner, Christian R; Hayes, Ben; Snowdon, Rod J; Voss-Fels, Kai P

    2017-01-01

    In order to meet future food, feed, fiber, and bioenergy demands, global yields of all major crops need to be increased significantly. At the same time, the increasing frequency of extreme weather events such as heat and drought necessitates improvements in the environmental resilience of modern crop cultivars. Achieving sustainably increase yields implies rapid improvement of quantitative traits with a very complex genetic architecture and strong environmental interaction. Latest advances in genome analysis technologies today provide molecular information at an ultrahigh resolution, revolutionizing crop genomic research, and paving the way for advanced quantitative genetic approaches. These include highly detailed assessment of population structure and genotypic diversity, facilitating the identification of selective sweeps and signatures of directional selection, dissection of genetic variants that underlie important agronomic traits, and genomic selection (GS) strategies that not only consider major-effect genes. Single-nucleotide polymorphism (SNP) markers today represent the genotyping system of choice for crop genetic studies because they occur abundantly in plant genomes and are easy to detect. SNPs are typically biallelic, however, hence their information content compared to multiallelic markers is low, limiting the resolution at which SNP-trait relationships can be delineated. An efficient way to overcome this limitation is to construct haplotypes based on linkage disequilibrium, one of the most important features influencing genetic analyses of crop genomes. Here, we give an overview of the latest advances in genomics-based haplotype analyses in crops, highlighting their importance in the context of polyploidy and genome evolution, linkage drag, and co-selection. We provide examples of how haplotype analyses can complement well-established quantitative genetics frameworks, such as quantitative trait analysis and GS, ultimately providing an effective tool

  3. Influence of promoter/enhancer region haplotypes on MGMT transcriptional regulation: a potential biomarker for human sensitivity to alkylating agents.

    Science.gov (United States)

    Xu, Meixiang; Nekhayeva, Ilona; Cross, Courtney E; Rondelli, Catherine M; Wickliffe, Jeffrey K; Abdel-Rahman, Sherif Z

    2014-03-01

    The O6-methylguanine-DNA methyltransferase gene (MGMT) encodes the direct reversal DNA repair protein that removes alkyl adducts from the O6 position of guanine. Several single-nucleotide polymorphisms (SNPs) exist in the MGMT promoter/enhancer (P/E) region. However, the haplotype structure encompassing these SNPs and their functional/biological significance are currently unknown. We hypothesized that MGMT P/E haplotypes, rather than individual SNPs, alter MGMT transcription and can thus alter human sensitivity to alkylating agents. To identify the haplotype structure encompassing the MGMT P/E region SNPs, we sequenced 104 DNA samples from healthy individuals and inferred the haplotypes using the data generated. We identified eight SNPs in this region, namely T7C (rs180989103), T135G (rs1711646), G290A (rs61859810), C485A (rs1625649), C575A (rs113813075), G666A (rs34180180), C777A (rs34138162) and C1099T (rs16906252). Phylogenetics and Sequence Evolution analysis predicted 21 potential haplotypes that encompass these SNPs ranging in frequencies from 0.000048 to 0.39. Of these, 10 were identified in our study population as 20 paired haplotype combinations. To determine the functional significance of these haplotypes, luciferase reporter constructs representing these haplotypes were transfected into glioblastoma cells and their effect on MGMT promoter activity was determined. Compared with the most common (reference) haplotype 1, seven haplotypes significantly upregulated MGMT promoter activity (18-119% increase; P alkylating agents.

  4. Factor IX gene haplotypes in Amerindians.

    Science.gov (United States)

    Franco, R F; Araújo, A G; Zago, M A; Guerreiro, J F; Figueiredo, M S

    1997-02-01

    We have determined the haplotypes of the factor IX gene for 95 Indians from 5 Brazilian Amazon tribes: Wayampí, Wayana-Apalaí, Kayapó, Arára, and Yanomámi. Eight polymorphisms linked to the factor IX gene were investigated: MseI (at 5', nt -698), BamHI (at 5', nt -561), DdeI (intron 1), BamHI (intron 2), XmnI (intron 3), TaqI (intron 4), MspI (intron 4), and HhaI (at 3', approximately 8 kb). The results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. Only five haplotypes were identified within the entire Amerindian study population, and the haplotype distribution was significantly different among the five tribes, with one (Arára) to four (Wayampí) haplotypes being found per tribe. These findings indicate a significant heterogeneity among the Indian tribes and contrast with the homogeneous distribution of the beta-globin gene cluster haplotypes but agree with our recent findings on the distribution of alpha-globin gene cluster haplotypes and the allele frequencies for six VNTRs in the same Amerindian tribes. Our data represent the first study of factor IX-associated polymorphisms in Amerindian populations and emphasizes the applicability of these genetic markers for population and human evolution studies.

  5. Light water reactor fuel analysis code. FEMAXI-6 (Ver.1). Detailed structure and user's manual

    International Nuclear Information System (INIS)

    Suzuki, Motoe; Saitou, Hiroaki

    2006-02-01

    A light water reactor fuel analysis code FEMAXI-6 is an advanced version which has been produced by integrating the former version FEMAXI-V with numerous functional improvements and extensions. In particular, the FEMAXI-6 code has attained a complete coupled solution of thermal analysis and mechanical analysis, enabling an accurate prediction of pellet-clad gap size and PCMI in high burnup fuel rods. Also, such new models have been implemented as pellet-clad bonding and fission gas bubble swelling, and linkage function with detailed burning analysis code has been enhanced. Furthermore, a number of new materials properties and parameters have been introduced. With these advancements, the FEMAXI-6 code has been upgraded to a versatile analytical tool for high burnup fuel behavior not only in the normal operation but also in anticipated transient conditions. This report describes in detail the design, basic theory and structure, models and numerical method, improvements and extensions, and method of model modification. In order to facilitate effective and wide-ranging application of the code, formats and methods of input/output of the code are also described, and a sample output in an actual form is included. (author)

  6. Polymorphism at Expressed DQ and DR Loci in Five Common Equine MHC Haplotypes

    Science.gov (United States)

    Miller, Donald; Tallmadge, Rebecca L.; Binns, Matthew; Zhu, Baoli; Mohamoud, Yasmin Ali; Ahmed, Ayeda; Brooks, Samantha A.; Antczak, Douglas F.

    2016-01-01

    The polymorphism of Major Histocompatibility Complex (MHC) class II DQ and DR genes in five common Equine Leukocyte Antigen (ELA) haplotypes was determined through sequencing of mRNA transcripts isolated from lymphocytes of eight ELA homozygous horses. Ten expressed MHC class II genes were detected in horses of the ELA-A3 haplotype carried by the donor horses of the equine Bacterial Artificial Chromosome (BAC) library and the reference genome sequence: four DR genes and six DQ genes. The other four ELA haplotypes contained at least eight expressed polymorphic MHC class II loci. Next Generation Sequencing (NGS) of genomic DNA of these four MHC haplotypes revealed stop codons in the DQA3 gene in the ELA-A2, ELA-A5, and ELA-A9 haplotypes. Few NGS reads were obtained for the other MHC class II genes that were not amplified in these horses. The amino acid sequences across haplotypes contained locus-specific residues, and the locus clusters produced by phylogenetic analysis were well supported. The MHC class II alleles within the five tested haplotypes were largely non-overlapping between haplotypes. The complement of equine MHC class II DQ and DR genes appears to be well conserved between haplotypes, in contrast to the recently described variation in class I gene loci between equine MHC haplotypes. The identification of allelic series of equine MHC class II loci will aid comparative studies of mammalian MHC conservation and evolution and may also help to interpret associations between the equine MHC class II region and diseases of the horse. PMID:27889800

  7. Haplotype phasing and inheritance of copy number variants in nuclear families.

    Science.gov (United States)

    Palta, Priit; Kaplinski, Lauris; Nagirnaja, Liina; Veidenberg, Andres; Möls, Märt; Nelis, Mari; Esko, Tõnu; Metspalu, Andres; Laan, Maris; Remm, Maido

    2015-01-01

    DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highlighting the relevance of addressing the variability of CNVs at a higher resolution. So far, it has not been possible to deterministically infer the allelic composition of different haplotypes present within the CNV regions. We have developed a novel computational method, called PiCNV, which enables to resolve the haplotype sequence composition within CNV regions in nuclear families based on SNP genotyping microarray data. The algorithm allows to i) phase normal and CNV-carrying haplotypes in the copy number variable regions, ii) resolve the allelic copies of rearranged DNA sequence within the haplotypes and iii) infer the heritability of identified haplotypes in trios or larger nuclear families. To our knowledge this is the first program available that can deterministically phase null, mono-, di-, tri- and tetraploid genotypes in CNV loci. We applied our method to study the composition and inheritance of haplotypes in CNV regions of 30 HapMap Yoruban trios and 34 Estonian families. For 93.6% of the CNV loci, PiCNV enabled to unambiguously phase normal and CNV-carrying haplotypes and follow their transmission in the corresponding families. Furthermore, allelic composition analysis identified the co-occurrence of alternative allelic copies within 66.7% of haplotypes carrying copy number gains. We also observed less frequent transmission of CNV-carrying haplotypes from parents to children compared to normal haplotypes and identified an emergence of several de novo deletions and duplications in the offspring.

  8. Haplotype phasing and inheritance of copy number variants in nuclear families.

    Directory of Open Access Journals (Sweden)

    Priit Palta

    Full Text Available DNA copy number variants (CNVs that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highlighting the relevance of addressing the variability of CNVs at a higher resolution. So far, it has not been possible to deterministically infer the allelic composition of different haplotypes present within the CNV regions. We have developed a novel computational method, called PiCNV, which enables to resolve the haplotype sequence composition within CNV regions in nuclear families based on SNP genotyping microarray data. The algorithm allows to i phase normal and CNV-carrying haplotypes in the copy number variable regions, ii resolve the allelic copies of rearranged DNA sequence within the haplotypes and iii infer the heritability of identified haplotypes in trios or larger nuclear families. To our knowledge this is the first program available that can deterministically phase null, mono-, di-, tri- and tetraploid genotypes in CNV loci. We applied our method to study the composition and inheritance of haplotypes in CNV regions of 30 HapMap Yoruban trios and 34 Estonian families. For 93.6% of the CNV loci, PiCNV enabled to unambiguously phase normal and CNV-carrying haplotypes and follow their transmission in the corresponding families. Furthermore, allelic composition analysis identified the co-occurrence of alternative allelic copies within 66.7% of haplotypes carrying copy number gains. We also observed less frequent transmission of CNV-carrying haplotypes from parents to children compared to normal haplotypes and identified an emergence of several de novo deletions and duplications in the offspring.

  9. Author Details

    African Journals Online (AJOL)

    Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Okeke, EO. Vol 10 (2006) - Articles Analysis of Stokes waves theory as a diffusion problem. Abstract · Vol 11 (2007) - Articles On the impact of wave-current on Stokes waves. Abstract. ISSN: 1116-4336. AJOL African ...

  10. Development of a detailed core flow analysis code for prismatic fuel reactors

    International Nuclear Information System (INIS)

    Bennett, R.G.

    1990-01-01

    The detailed analysis of the core flow distribution in prismatic fuel reactors is of interest for modular high-temperature gas-cooled reactor (MHTGR) design and safety analyses. Such analyses involve the steady-state flow of helium through highly cross-connected flow paths in and around the prismatic fuel elements. Several computer codes have been developed for this purpose. However, since they are proprietary codes, they are not generally available for independent MHTGR design confirmation. The previously developed codes do not consider the exchange or diversion of flow between individual bypass gaps with much detail. Such a capability could be important in the analysis of potential fuel block motion, such as occurred in the Fort St. Vrain reactor, or for the analysis of the conditions around a flow blockage or misloaded fuel block. This work develops a computer code with fairly general-purpose capabilities for modeling the flow in regions of prismatic fuel cores. The code, called BYPASS solves a finite difference control volume formulation of the compressible, steady-state fluid flow in highly cross-connected flow paths typical of the MHTGR

  11. Resolution requirements for monitor viewing of digital flat-panel detector radiographs: a contrast detail analysis

    International Nuclear Information System (INIS)

    Peer, Siegfried; Giacomuzzi, Salvatore M.; Peer, Regina; Gassner, Eva; Steingruber, Iris; Jaschke, Werner

    2003-01-01

    With the introduction of digital flat-panel detector systems into clinical practice, the still unresolved question of resolution requirements for picture archiving communication system (PACS) workstation monitors has gained new momentum. This contrast detail analysis was thus performed to define the differences in observer performance in the detection of small low-contrast objects on clinical 1K and 2K monitor workstations. Images of the CDRAD 2.0 phantom were acquired at varying exposures on an indirect-type digital flat-panel detector. Three observers evaluated a total of 15 images each with respect to the threshold contrast for each detail size. The numbers of correctly identified objects were determined for all image subsets. No significant difference in the correct detection ratio was detected among the observers; however, the difference between the two types of workstations (1K vs 2K monitors) despite less than 3% was significant at a 95% confidence level. Slight but statistically significant differences exist in the detection of low-contrast nodular details visualized on 1K- and 2K-monitor workstations. Further work is needed to see if this result holds true also for comparison of clinical flat-panel detector images and may, for example, exert an influence on the diagnostic accuracy of chest X-ray readings. (orig.)

  12. Detailed Analysis of the Transient Voltage in a JT-60SA PF Coil Circuit

    International Nuclear Information System (INIS)

    Yamauchi, K.; Shimada, K.; Terakado, T.; Matsukawa, M.; Coletti, R.; Lampasi, A.; Gaio, E.; Coletti, A.; Novello, L.

    2013-01-01

    A superconducting coil system is actually complicated by the distributed parameters, e.g. the distributed mutual inductance among turns and the distributed capacitance between adjacent conductors. In this paper, such a complicated system was modeled with a reasonably simplified circuit network with lumped parameters. Then, a detailed circuit analysis was conducted to evaluate the possible voltage transient in the coil circuit. As a result, an appropriate (minimum) snubber capacitance for the Switching Network Unit, which is a fast high voltage generation circuit in JT-60SA, was obtained. (fusion engineering)

  13. Development of a detailed core flow analysis code for prismatic fuel reactors

    International Nuclear Information System (INIS)

    Bennett, R.G.

    1990-01-01

    The development of a computer code for the analysis of the detailed flow of helium in prismatic fuel reactors is reported. The code, called BYPASS, solves, a finite difference control volume formulation of the compressible, steady state fluid flow in highly cross-connected flow paths typical of the Modular High-Temperature Gas Cooled Reactor (MHTGR). The discretization of the flow in a core region typically considers the main coolant flow paths, the bypass gap flow paths, and the crossflow connections between them. 16 refs., 5 figs

  14. Y-chromosome STR haplotypes in Somalis

    DEFF Research Database (Denmark)

    Hallenberg, Charlotte; Simonsen, Bo; Sanchez Sanchez, Juan Jose

    2005-01-01

    A total of 201 males from Somalia were typed for the Y-chromosome STRs DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 with the PowerPlex Y kit (Promega). A total of 96 different haplotypes were observed and the haplotype diversity was 0.9715. The ......A total of 201 males from Somalia were typed for the Y-chromosome STRs DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 with the PowerPlex Y kit (Promega). A total of 96 different haplotypes were observed and the haplotype diversity was 0...

  15. Statistical Analysis of Detailed 3-D CFD LES Simulations with Regard to CCV Modeling

    Directory of Open Access Journals (Sweden)

    Vítek Oldřich

    2016-06-01

    Full Text Available The paper deals with statistical analysis of large amount of detailed 3-D CFD data in terms of cycle-to-cycle variations (CCVs. These data were obtained by means of LES calculations of many consecutive cycles. Due to non-linear nature of Navier-Stokes equation set, there is a relatively significant CCV. Hence, every cycle is slightly different – this leads to requirement to perform statistical analysis based on ensemble averaging procedure which enables better understanding of CCV in ICE including its quantification. The data obtained from the averaging procedure provides results on different space resolution levels. The procedure is applied locally, i.e., in every cell of the mesh. Hence there is detailed CCV information on local level – such information can be compared with RANS simulations. Next, volume/mass averaging provides information at specific locations – e.g., gap between electrodes of a spark plug. Finally, volume/mass averaging of the whole combustion chamber leads to global information which can be compared with experimental data or results of system simulation tools (which are based on 0-D/1-D approach.

  16. Application of a logistic function to the analysis of contrast-detail curves

    International Nuclear Information System (INIS)

    Mumma, C.G.; Prince, J.R.

    1987-01-01

    A general logistic function has been applied to the regression analysis of radioscintigraphic contrast-detail (CD) curves obtained in the authors' laboratory and to previously published results in assorted imaging modalities. Regression analysis is based on the logistic function: d/sub min/ = d/sub min//sup sat/(1 - EXP - (K + CX)), where d/sub min/ is the minimum perceptible detail diameter at a primary contrast X, and d/sub min//sup sat/ is the saturation value of d/sub min/. K and C are regression parameters. Logistic regression in assorted imaging modalities yielded r 2 values ranging from 0.95 to 0.99. A figure of merit (FOM), the area under the CD curve (AUC), is obtained by integrating the logistic function over mathematically and clinically acceptable limits. For count densities of 200 countscm 2 and 1,000 countscm 2 , the AUC differed approximately by a factor of 2. Thus, the AUC may be a sensitive FOM

  17. Detailed Structural Analysis of Critical Wendelstein 7-X Magnet System Components

    International Nuclear Information System (INIS)

    Egorov, K.

    2006-01-01

    The Wendelstein 7-X (W7-X) stellarator experiment is presently under construction and assembly in Greifswald, Germany. The goal of the experiment is to verify that the stellarator magnetic confinement concept is a viable option for a fusion reactor. The complex W7-X magnet system requires a multi-level approach to structural analysis for which two types of finite element models are used: Firstly, global models having reasonably coarse meshes with a number of simplifications and assumptions, and secondly, local models with detailed meshes of critical regions and elements. Widely known sub-modelling technique with boundary conditions extracted from the global models is one of the approaches for local analysis with high assessment efficiency. In particular, the winding pack (WP) of the magnet coils is simulated in the global model as a homogeneous orthotropic material with effective mechanical characteristic representing its real composite structure. This assumption allows assessing the whole magnet system in terms of general structural factors like forces and moments on the support elements, displacements of the main components, deformation and stress in the coil casings, etc. In a second step local models with a detailed description of more critical WP zones are considered in order to analyze their internal components like conductor jackets, turn insulation, etc. This paper provides an overview of local analyses of several critical W7-X magnet system components with particular attention on the coil winding packs. (author)

  18. A detailed analysis of codon usage patterns and influencing factors in Zika virus.

    Science.gov (United States)

    Singh, Niraj K; Tyagi, Anuj

    2017-07-01

    Recent outbreaks of Zika virus (ZIKV) in Africa, Latin America, Europe, and Southeast Asia have resulted in serious health concerns. To understand more about evolution and transmission of ZIKV, detailed codon usage analysis was performed for all available strains. A high effective number of codons (ENC) value indicated the presence of low codon usage bias in ZIKV. The effect of mutational pressure on codon usage bias was confirmed by significant correlations between nucleotide compositions at third codon positions and ENCs. Correlation analysis between Gravy values, Aroma values and nucleotide compositions at third codon positions also indicated some influence of natural selection. However, the low codon adaptation index (CAI) value of ZIKV with reference to human and mosquito indicated poor adaptation of ZIKV codon usage towards its hosts, signifying that natural selection has a weaker influence than mutational pressure. Additionally, relative dinucleotide frequencies, geographical distribution, and evolutionary processes also influenced the codon usage pattern to some extent.

  19. KNOW YOUR NEIGHBORHOOD: A DETAILED MODEL ATMOSPHERE ANALYSIS OF NEARBY WHITE DWARFS

    Energy Technology Data Exchange (ETDEWEB)

    Giammichele, N.; Bergeron, P. [Kitt Peak National Observatory, National Optical Astronomy Observatory, which is operated by the Association of Universities for Research in Astronomy (AURA) under cooperative agreement with the National Science Foundation (United States); Dufour, P., E-mail: noemi.giammichele@astro.umontreal.ca, E-mail: pierre.bergeron@astro.umontreal.ca, E-mail: patrick.dufour@astro.umontreal.ca [Departement de Physique, Universite de Montreal, C.P. 6128, Succ. Centre-Ville, Montreal, Quebec H3C 3J7 (Canada)

    2012-04-01

    We present improved atmospheric parameters of nearby white dwarfs lying within 20 pc of the Sun. The aim of the current study is to obtain the best statistical model of the least-biased sample of the white dwarf population. A homogeneous analysis of the local population is performed combining detailed spectroscopic and photometric analyses based on improved model atmosphere calculations for various spectral types including DA, DB, DC, DQ, and DZ stars. The spectroscopic technique is applied to all stars in our sample for which optical spectra are available. Photometric energy distributions, when available, are also combined to trigonometric parallax measurements to derive effective temperatures, stellar radii, as well as atmospheric compositions. A revised catalog of white dwarfs in the solar neighborhood is presented. We provide, for the first time, a comprehensive analysis of the mass distribution and the chemical distribution of white dwarf stars in a volume-limited sample.

  20. Detailed Modeling and Irreversible Transfer Process Analysis of a Multi-Element Thermoelectric Generator System

    Science.gov (United States)

    Xiao, Heng; Gou, Xiaolong; Yang, Suwen

    2011-05-01

    Thermoelectric (TE) power generation technology, due to its several advantages, is becoming a noteworthy research direction. Many researchers conduct their performance analysis and optimization of TE devices and related applications based on the generalized thermoelectric energy balance equations. These generalized TE equations involve the internal irreversibility of Joule heating inside the thermoelectric device and heat leakage through the thermoelectric couple leg. However, it is assumed that the thermoelectric generator (TEG) is thermally isolated from the surroundings except for the heat flows at the cold and hot junctions. Since the thermoelectric generator is a multi-element device in practice, being composed of many fundamental TE couple legs, the effect of heat transfer between the TE couple leg and the ambient environment is not negligible. In this paper, based on basic theories of thermoelectric power generation and thermal science, detailed modeling of a thermoelectric generator taking account of the phenomenon of energy loss from the TE couple leg is reported. The revised generalized thermoelectric energy balance equations considering the effect of heat transfer between the TE couple leg and the ambient environment have been derived. Furthermore, characteristics of a multi-element thermoelectric generator with irreversibility have been investigated on the basis of the new derived TE equations. In the present investigation, second-law-based thermodynamic analysis (exergy analysis) has been applied to the irreversible heat transfer process in particular. It is found that the existence of the irreversible heat convection process causes a large loss of heat exergy in the TEG system, and using thermoelectric generators for low-grade waste heat recovery has promising potential. The results of irreversibility analysis, especially irreversible effects on generator system performance, based on the system model established in detail have guiding significance for

  1. Detailed analysis of surface asperity deformation mechanism in diffusion bonding of steel hollow structural components

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, C. [School of Materials Science and Engineering, Northwestern Polytechnical University, Xi’an 710072 (China); Laboratoire de Mecanique des Contacts et des Structures (LaMCoS), INSA Lyon, 20 Avenue des Sciences, F-69621 Villeurbanne Cedex (France); Li, H. [School of Materials Science and Engineering, Northwestern Polytechnical University, Xi’an 710072 (China); Li, M.Q., E-mail: zc9997242256@126.com [School of Materials Science and Engineering, Northwestern Polytechnical University, Xi’an 710072 (China)

    2016-05-15

    Graphical abstract: This study focused on the detailed analysis of surface asperity deformation mechanism in diffusion bonding of steel hollow structural component. A special surface with regular patterns was processed to be joined so as to observe the extent of surface asperity deformation under different applied bonding pressures. Fracture surface characteristic combined with surface roughness profiles distinctly revealed the enhanced surface asperity deformation as the applied pressure increases. The influence of surface asperity deformation mechanism on joint formation was analyzed: (a) surface asperity deformation not only directly expanded the interfacial contact areas, but also released deformation heat and caused defects, indirectly accelerating atomic diffusion, then benefits to void shrinkage; (b) surface asperity deformation readily introduced stored energy difference between two opposite sides of interface grain boundary, resulting in strain induced interface grain boundary migration. In addition, the influence of void on interface grain boundary migration was analyzed in detail. - Highlights: • A high quality hollow structural component has been fabricated by diffusion bonding. • Surface asperity deformation not only expands the interfacial contact areas, but also causes deformation heat and defects to improve the atomic diffusion. • Surface asperity deformation introduces the stored energy difference between the two opposite sides of interface grain boundary, leading to strain induced interface grain boundary migration. • The void exerts a dragging force on the interface grain boundary to retard or stop interface grain boundary migration. - Abstract: This study focused on the detailed analysis of surface asperity deformation mechanism in similar diffusion bonding as well as on the fabrication of high quality martensitic stainless steel hollow structural components. A special surface with regular patterns was processed to be joined so as to

  2. Two families from New England with usher syndrome type IC with distinct haplotypes.

    Science.gov (United States)

    DeAngelis, M M; McGee, T L; Keats, B J; Slim, R; Berson, E L; Dryja, T P

    2001-03-01

    To search for patients with Usher syndrome type IC among those with Usher syndrome type I who reside in New England. Genotype analysis of microsatellite markers closely linked to the USH1C locus was done using the polymerase chain reaction. We compared the haplotype of our patients who were homozygous in the USH1C region with the haplotypes found in previously reported USH1C Acadian families who reside in southwestern Louisiana and from a single family residing in Lebanon. Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region. Of these, one carried the Acadian USH1C haplotype and had Acadian ancestors (that is, from Nova Scotia) who did not participate in the 1755 migration of Acadians to Louisiana. The second family had a haplotype that proved to be the same as that of a family with USH1C residing in Lebanon. Each of the two families had haplotypes distinct from the other. This is the first report that some patients residing in New England have Usher syndrome type IC. Patients with Usher syndrome type IC can have the Acadian haplotype or the Lebanese haplotype compatible with the idea that at least two independently arising pathogenic mutations have occurred in the yet-to-be identified USH1C gene.

  3. RFLP's for the human pepsinogen A haplotypes (PGA)

    Energy Technology Data Exchange (ETDEWEB)

    Taggart, R T; Boudi, F B; Bell, G I

    1988-10-11

    PGA 101 is a 1340 bp cDNA clone containing exons 1-9 of the predicted human pepsinogen A coding sequence. Two distinct polymorphisms are detected with EcoRI and Bg1 II. Analysis with these enzymes provides for discrimination of the PGA haplotypes A, B, and C containing three, two and one PGA genes respectively. The PGA complex is located at 11q13. Mendelian inheritance was demonstrated in 20 families.

  4. Developments in remote sensing technology enable more detailed urban flood risk analysis.

    Science.gov (United States)

    Denniss, A.; Tewkesbury, A.

    2009-04-01

    digital airborne sensors, both optical and lidar, to produce the input layer for surface water flood modelling. A national flood map product has been created. The new product utilises sophisticated modelling techniques, perfected over many years, which harness graphical processing power. This product will prove particularly valuable for risk assessment decision support within insurance/reinsurance, property/environmental, utilities, risk management and government agencies. However, it is not just the ground elevation that determines the behaviour of surface water. By combining height information (surface and terrain) with high resolution aerial photography and colour infrared imagery, a high definition land cover mapping dataset (LandBase) is being produced, which provides a precise measure of sealed versus non sealed surface. This will allows even more sophisticated modelling of flood scenarios. Thus, the value of airborne survey data can be demonstrated by flood risk analysis down to individual addresses in urban areas. However for some risks, an even more detailed survey may be justified. In order to achieve this, Infoterra is testing new 360˚ mobile lidar technology. Collecting lidar data from a moving vehicle allows each street to be mapped in very high detail, allowing precise information about the location, size and shape of features such as kerbstones, gullies, road camber and building threshold level to be captured quickly and accurately. These data can then be used to model the problem of overland flood risk at the scale of individual properties. Whilst at present it might be impractical to undertake such detailed modelling for all properties, these techniques can certainly be used to improve the flood risk analysis of key locations. This paper will demonstrate how these new high resolution remote sensing techniques can be combined to provide a new resolution of detail to aid urban flood modelling.

  5. Business Management Simulations – a detailed industry analysis as well as recommendations for the future

    Directory of Open Access Journals (Sweden)

    Michael Batko

    2016-06-01

    Full Text Available Being exposed to serious games showed that some simulations widely vary in quality and learning outcome. In order to get to the bottom of best practices a detailed review of business management simulation literature was conducted. Additionally, an industry analysis was performed, by interviewing 17 simulation companies, testing a range of full and demo games, and conducting secondary research. The findings from both research efforts were then collated and cross-referenced against each other in order to determine three things: firstly, the practices and features used by simulation companies that have not yet been the subject of academic research; secondly, the most effective features, elements and inclusions within simulations that best assist in the achievement of learning outcomes and enhancement the user experience; and finally, ‘best practices’ in teaching a business management course in a university or company with the assistance of a simulation. Identified gaps in the current research were found to include the effectiveness of avatars, transparent pricing and the benefits of competing the simulation against other teams as opposed to the computer. In relation to the second and third objectives of the research, the findings were used to compile a business plan, with detailed recommendations for companies looking to develop a new simulation, and for instructors implementing and coordinating the use of a simulation in a business management context.

  6. Contrast-detail analysis of three flat panel detectors for digital radiography

    International Nuclear Information System (INIS)

    Borasi, Giovanni; Samei, Ehsan; Bertolini, Marco; Nitrosi, Andrea; Tassoni, Davide

    2006-01-01

    In this paper we performed a contrast detail analysis of three commercially available flat panel detectors, two based on the indirect detection mechanism (GE Revolution XQ/i, system A, and Trixell/Philips Pixium 4600, system B) and one based on the direct detection mechanism (Hologic DirectRay DR 1000, system C). The experiment was conducted using standard x-ray radiation quality and a widely used contrast-detail phantom. Images were evaluated using a four alternative forced choice paradigm on a diagnostic-quality softcopy monitor. At the low and intermediate exposures, systems A and B gave equivalent performances. At the high dose levels, system A performed better than system B in the entire range of target sizes, even though the pixel size of system A was about 40% larger than that of system B. At all the dose levels, the performances of the system C (direct system) were lower than those of system A and B (indirect systems). Theoretical analyses based on the Perception Statistical Model gave similar predicted SNR T values corresponding to an observer efficiency of about 0.08 for systems A and B and 0.05 for system C

  7. Detailed precision and accuracy analysis of swarm parameters from a pulsed Townsend experiment

    Science.gov (United States)

    Haefliger, P.; Franck, C. M.

    2018-02-01

    A newly built pulsed Townsend experimental setup which allows one to measure both electron and ion currents is presented. The principle of pulsed Townsend measurements itself is well established to obtain swarm parameters such as the effective ionization rate coefficient, the density-reduced mobility, and the density-normalized longitudinal diffusion coefficient. The main novelty of the present contribution is a detailed and comprehensive analysis of the entire measurement and evaluation chain with respect to accuracy, precision, and reproducibility. The influence of the input parameters (gap distance, applied voltage, measured pressure, and temperature) is analyzed in detail. An overall accuracy of ±0.5% in the density reduced electric field (E/N) is achieved, which is close to the theoretically possible limit using the chosen components. The precision of the experimental results is higher than the accuracy. Through an extensive measurement campaign, the repeatability of our measurements proved to be high and similar to the precision. The reproducibility of results at identical (E/N) is similar to the precision for different distances but decreases for varying pressures. For benchmark purposes, measurements for Ar, CO2, and N2 are presented and compared with our previous experimental setup, simulations, and other experimental references.

  8. β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil

    Directory of Open Access Journals (Sweden)

    Wellington dos Santos Silva

    2010-01-01

    Full Text Available Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1 were analyzed in three populations (n = 114 from Reconcavo Baiano, State of Bahia, Brazil. The groups included two urban populations from the towns of Cachoeira and Maragojipe and one rural Afro-descendant population, known as the "quilombo community", from Cachoeira municipality. The number of haplotypes found in the populations ranged from 10 to 13, which indicated higher diversity than in the parental populations. The haplotypes 2 (+----,3(----+,4(-+--+and6(-++-+onthe βA chromosomes were the most common, and two haplotypes, 9 (-++++and 14 (++--+, were found exclusively in the Maragojipe population. The other haplotypes (1, 5, 9, 11, 12, 13, 14 and 16 had lower frequencies. Restriction site analysis and the derived haplotypes indicated homogeneity among the populations. Thirty-two individuals with hemoglobinopathies (17 sickle cell disease, 12 HbSC disease and 3 HbCC disease were also analyzed. The haplotype frequencies of these patients differed significantly from those of the general population. In the sickle cell disease subgroup, the predominant haplotypes were BEN (Benin and CAR (Central African Republic, with frequencies of 52.9% and 32.4%, respectively. The high frequency of the BEN haplotype agreed with the historical origin of the afro-descendant population in the state of Bahia. However, this frequency differed from that of Salvador, the state capital, where the CAR and BEN haplotypes have similar frequencies, probably as a consequence of domestic slave trade and subsequent internal migrations to other regions of Brazil.

  9. Contrast to Noise Ratio and Contrast Detail Analysis in Mammography:A Monte Carlo Study

    International Nuclear Information System (INIS)

    Metaxas, V; Delis, H; Panayiotakis, G; Kalogeropoulou, C; Zampakis, P

    2015-01-01

    The mammographic spectrum is one of the major factors affecting image quality in mammography. In this study, a Monte Carlo (MC) simulation model was used to evaluate image quality characteristics of various mammographic spectra. The anode/filter combinations evaluated, were those traditionally used in mammography, for tube voltages between 26 and 30 kVp. The imaging performance was investigated in terms of Contrast to Noise Ratio (CNR) and Contrast Detail (CD) analysis, by involving human observers, utilizing a mathematical CD phantom. Soft spectra provided the best characteristics in terms of both CNR and CD scores, while tube voltage had a limited effect. W-anode spectra filtered with k-edge filters demonstrated an improved performance, that sometimes was better compared to softer x-ray spectra, produced by Mo or Rh anode. Regarding the filter material, k-edge filters showed superior performance compared to Al filters. (paper)

  10. Refined candidate region specified by haplotype sharing for Escherichia coli F4ab/F4ac susceptibility alleles in pigs

    DEFF Research Database (Denmark)

    Jacobsen, Mette Juul; Kracht, Steffen Skaarup; Esteso, G.

    2009-01-01

    Infection of the small intestine by enterotoxigenic Escherichia coli F4ab/ac is a major welfare problem and financial burden for the pig industry. Natural resistance to this infection is inherited as a Mendelian recessive trait, and a polymorphism in the MUC4 gene segregating for susceptibility....../resistance is presently used in a selection programme by the Danish pig breeding industry. To elucidate the genetic background involved in E. coli F4ab/ac susceptibility in pigs, a detailed haplotype map of the porcine candidate region was established. This region covers approximately 3.7 Mb. The material used...... for the study is a three generation family, where the founders are two Wild boars and eight Large White sows. All pigs have been phenotyped for susceptibility to F4ab/ac using an adhesion assay. Their haplotypes are known from segregation analysis using flanking markes. By a targeted approach, the candidate...

  11. Patterns of Failure After MammoSite Brachytherapy Partial Breast Irradiation: A Detailed Analysis

    International Nuclear Information System (INIS)

    Chen, Sea; Dickler, Adam; Kirk, Michael; Shah, Anand; Jokich, Peter; Solmos, Gene; Strauss, Jonathan; Dowlatshahi, Kambiz; Nguyen, Cam; Griem, Katherine

    2007-01-01

    Purpose: To report the results of a detailed analysis of treatment failures after MammoSite breast brachytherapy for partial breast irradiation from our single-institution experience. Methods and Materials: Between October 14, 2002 and October 23, 2006, 78 patients with early-stage breast cancer were treated with breast-conserving surgery and accelerated partial breast irradiation using the MammoSite brachytherapy applicator. We identified five treatment failures in the 70 patients with >6 months' follow-up. Pathologic data, breast imaging, and radiation treatment plans were reviewed. For in-breast failures more than 2 cm away from the original surgical bed, the doses delivered to the areas of recurrence by partial breast irradiation were calculated. Results: At a median follow-up time of 26.1 months, five treatment failures were identified. There were three in-breast failures more than 2 cm away from the original surgical bed, one failure directly adjacent to the original surgical bed, and one failure in the axilla with synchronous distant metastases. The crude failure rate was 7.1% (5 of 70), and the crude local failure rate was 5.7% (4 of 70). Estimated progression-free survival at 48 months was 89.8% (standard error 4.5%). Conclusions: Our case series of 70 patients with >6 months' follow-up and a median follow-up of 26 months is the largest single-institution report to date with detailed failure analysis associated with MammoSite brachytherapy. Our failure data emphasize the importance of patient selection when offering partial breast irradiation

  12. Uruguay Energy Supply Options Study: a Detailed Multi-Sector Integrated Energy Supply and Demand Analysis

    International Nuclear Information System (INIS)

    Conzelmann, G.; Veselka, T.

    1997-01-01

    Uruguay is in the middle of making critical decisions affecting the design of its future energy supply system.Momentum for change is expected to come from several directions including recent and foreseeable upgrades and modifications to energy conversion facilities, the importation of natural gas from Argentina, the possibility for a stronger interconnection of regional electricity systems, the country s membership in MERCOSUR, and the potential for energy sector reforms by the Government of Uruguay.The objective of this study is to analyze the effects of several fuel diversification strategies on Uruguay s energy supply system.The analysis pays special attention to fuel substitution trends due to potential imports of natural gas via a gas pipeline from Argentina and increasing electricity ties with neighboring countries.The Government of Uruguay contracted Argonne National Laboratory (ANL) to study several energy development scenario ns with the support of several Uruguayan Institutions.Specifically, ANL was asked to conduct a detailed energy supply and demand analysis, develop energy demand projections based on an analysis of past energy demand patterns with support from local institutions, evaluate the effects of potential natural gas imports and electricity exchanges, and determine the market penetration of natural gas under various scenarios

  13. Canis mtDNA HV1 database: a web-based tool for collecting and surveying Canis mtDNA HV1 haplotype in public database.

    Science.gov (United States)

    Thai, Quan Ke; Chung, Dung Anh; Tran, Hoang-Dung

    2017-06-26

    Canine and wolf mitochondrial DNA haplotypes, which can be used for forensic or phylogenetic analyses, have been defined in various schemes depending on the region analyzed. In recent studies, the 582 bp fragment of the HV1 region is most commonly used. 317 different canine HV1 haplotypes have been reported in the rapidly growing public database GenBank. These reported haplotypes contain several inconsistencies in their haplotype information. To overcome this issue, we have developed a Canis mtDNA HV1 database. This database collects data on the HV1 582 bp region in dog mitochondrial DNA from the GenBank to screen and correct the inconsistencies. It also supports users in detection of new novel mutation profiles and assignment of new haplotypes. The Canis mtDNA HV1 database (CHD) contains 5567 nucleotide entries originating from 15 subspecies in the species Canis lupus. Of these entries, 3646 were haplotypes and grouped into 804 distinct sequences. 319 sequences were recognized as previously assigned haplotypes, while the remaining 485 sequences had new mutation profiles and were marked as new haplotype candidates awaiting further analysis for haplotype assignment. Of the 3646 nucleotide entries, only 414 were annotated with correct haplotype information, while 3232 had insufficient or lacked haplotype information and were corrected or modified before storing in the CHD. The CHD can be accessed at http://chd.vnbiology.com . It provides sequences, haplotype information, and a web-based tool for mtDNA HV1 haplotyping. The CHD is updated monthly and supplies all data for download. The Canis mtDNA HV1 database contains information about canine mitochondrial DNA HV1 sequences with reconciled annotation. It serves as a tool for detection of inconsistencies in GenBank and helps identifying new HV1 haplotypes. Thus, it supports the scientific community in naming new HV1 haplotypes and to reconcile existing annotation of HV1 582 bp sequences.

  14. A unified framework for haplotype inference in nuclear families.

    Science.gov (United States)

    Iliadis, Alexandros; Anastassiou, Dimitris; Wang, Xiaodong

    2012-07-01

    Many large genome-wide association studies include nuclear families with more than one child (trio families), allowing for analysis of differences between siblings (sib pair analysis). Statistical power can be increased when haplotypes are used instead of genotypes. Currently, haplotype inference in families with more than one child can be performed either using the familial information or statistical information derived from the population samples but not both. Building on our recently proposed tree-based deterministic framework (TDS) for trio families, we augment its applicability to general nuclear families. We impose a minimum recombinant approach locally and independently on each multiple children family, while resorting to the population-derived information to solve the remaining ambiguities. Thus our framework incorporates all available information (familial and population) in a given study. We demonstrate that using all the constraints in our approach we can have gains in the accuracy as opposed to breaking the multiple children families to separate trios and resorting to a trio inference algorithm or phasing each family in isolation. We believe that our proposed framework could be the method of choice for haplotype inference in studies that include nuclear families with multiple children. Our software (tds2.0) is downloadable from www.ee.columbia.edu/∼anastas/tds. © 2012 The Authors Annals of Human Genetics © 2012 Blackwell Publishing Ltd/University College London.

  15. Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Preeclampsia in Maya Mestizo Women

    Science.gov (United States)

    Díaz-Olguín, Lizbeth; Coral-Vázquez, Ramón Mauricio; Canto-Cetina, Thelma; Canizales-Quinteros, Samuel; Ramírez Regalado, Belem; Fernández, Genny; Canto, Patricia

    2011-01-01

    Preeclampsia is a specific disease of pregnancy and believed to have a genetic component. The aim of this study was to investigate if three polymorphisms in eNOS or their haplotypes are associated with preeclampsia in Maya mestizo women. A case-control study was performed where 127 preeclamptic patients and 263 controls were included. Genotyped and haplotypes for the -768T→C, intron 4 variants, Glu298Asp of eNOS were determined by PCR and real-time PCR allelic discrimination. Logistic regression analysis with adjustment for age and body mass index (BMI) was used to test for associations between genotype and preeclampsia under recessive, codominant and dominant models. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r2, and haplotype analysis was conducted. Women homozygous for the Asp298 allele showed an association of preeclampsia. In addition, analysis of the haplotype frequencies revealed that the -786C-4b-Asp298 haplotype was significantly more frequent in preeclamptic patients than in controls (0.143 vs. 0.041, respectively; OR = 3.01; 95% CI = 1.74–5.23; P = 2.9 × 10−4). Despite the Asp298 genotype in a recessive model associated with the presence of preeclampsia in Maya mestizo women, we believe that in this population the -786C-4b-Asp298 haplotype is a better genetic marker. PMID:21897002

  16. Haplotype-based stratification of Huntington's disease.

    Science.gov (United States)

    Chao, Michael J; Gillis, Tammy; Atwal, Ranjit S; Mysore, Jayalakshmi Srinidhi; Arjomand, Jamshid; Harold, Denise; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H; Kwak, Seung; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Lee, Jong-Min

    2017-11-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplotype backbones, reflecting more than one ancestral origin of the same type of mutation. In view of the therapeutic potential of mutant allele-specific gene silencing, we have compared and integrated two major systems of HTT haplotype definition, combining data from 74 sequence variants to identify the most frequent disease-associated and control chromosome backbones and revealing that there is potential for additional resolution of HD haplotypes. We have used the large collection of 4078 heterozygous HD subjects analyzed in our recent genome-wide association study of HD age at onset to estimate the frequency of these haplotypes in European subjects, finding that common genetic variation at HTT can distinguish the normal and CAG-expanded chromosomes for more than 95% of European HD individuals. As a resource for the HD research community, we have also determined the haplotypes present in a series of publicly available HD subject-derived fibroblasts, induced pluripotent cells, and embryonic stem cells in order to facilitate efforts to develop inclusive methods of allele-specific HTT silencing applicable to most HD patients. Our data providing genetic guidance for therapeutic gene-based targeting will significantly contribute to the developments of rational treatments and implementation of precision medicine in HD.

  17. Estimating haplotype effects for survival data.

    Science.gov (United States)

    Scheike, Thomas H; Martinussen, Torben; Silver, Jeremy D

    2010-09-01

    Genetic association studies often investigate the effect of haplotypes on an outcome of interest. Haplotypes are not observed directly, and this complicates the inclusion of such effects in survival models. We describe a new estimating equations approach for Cox's regression model to assess haplotype effects for survival data. These estimating equations are simple to implement and avoid the use of the EM algorithm, which may be slow in the context of the semiparametric Cox model with incomplete covariate information. These estimating equations also lead to easily computable, direct estimators of standard errors, and thus overcome some of the difficulty in obtaining variance estimators based on the EM algorithm in this setting. We also develop an easily implemented goodness-of-fit procedure for Cox's regression model including haplotype effects. Finally, we apply the procedures presented in this article to investigate possible haplotype effects of the PAF-receptor on cardiovascular events in patients with coronary artery disease, and compare our results to those based on the EM algorithm. © 2009, The International Biometric Society.

  18. Mitochondrial Haplotype Diversity in Zambian Lions: Bridging a Gap in the Biogeography of an Iconic Species.

    Science.gov (United States)

    Curry, Caitlin J; White, Paula A; Derr, James N

    2015-01-01

    Analysis of DNA sequence diversity at the 12S to 16S mitochondrial genes of 165 African lions (Panthera leo) from five main areas in Zambia has uncovered haplotypes which link Southern Africa with East Africa. Phylogenetic analysis suggests Zambia may serve as a bridge connecting the lion populations in southern Africa to eastern Africa, supporting earlier hypotheses that eastern-southern Africa may represent the evolutionary cradle for the species. Overall gene diversity throughout the Zambian lion population was 0.7319 +/- 0.0174 with eight haplotypes found; three haplotypes previously described and the remaining five novel. The addition of these five novel haplotypes, so far only found within Zambia, nearly doubles the number of haplotypes previously reported for any given geographic location of wild lions. However, based on an AMOVA analysis of these haplotypes, there is little to no matrilineal gene flow (Fst = 0.47) when the eastern and western regions of Zambia are considered as two regional sub-populations. Crossover haplotypes (H9, H11, and Z1) appear in both populations as rare in one but common in the other. This pattern is a possible result of the lion mating system in which predominately males disperse, as all individuals with crossover haplotypes were male. The determination and characterization of lion sub-populations, such as done in this study for Zambia, represent a higher-resolution of knowledge regarding both the genetic health and connectivity of lion populations, which can serve to inform conservation and management of this iconic species.

  19. Mitochondrial Haplotype Diversity in Zambian Lions: Bridging a Gap in the Biogeography of an Iconic Species.

    Directory of Open Access Journals (Sweden)

    Caitlin J Curry

    Full Text Available Analysis of DNA sequence diversity at the 12S to 16S mitochondrial genes of 165 African lions (Panthera leo from five main areas in Zambia has uncovered haplotypes which link Southern Africa with East Africa. Phylogenetic analysis suggests Zambia may serve as a bridge connecting the lion populations in southern Africa to eastern Africa, supporting earlier hypotheses that eastern-southern Africa may represent the evolutionary cradle for the species. Overall gene diversity throughout the Zambian lion population was 0.7319 +/- 0.0174 with eight haplotypes found; three haplotypes previously described and the remaining five novel. The addition of these five novel haplotypes, so far only found within Zambia, nearly doubles the number of haplotypes previously reported for any given geographic location of wild lions. However, based on an AMOVA analysis of these haplotypes, there is little to no matrilineal gene flow (Fst = 0.47 when the eastern and western regions of Zambia are considered as two regional sub-populations. Crossover haplotypes (H9, H11, and Z1 appear in both populations as rare in one but common in the other. This pattern is a possible result of the lion mating system in which predominately males disperse, as all individuals with crossover haplotypes were male. The determination and characterization of lion sub-populations, such as done in this study for Zambia, represent a higher-resolution of knowledge regarding both the genetic health and connectivity of lion populations, which can serve to inform conservation and management of this iconic species.

  20. Analysis of exergy loss of gasoline surrogate combustion process based on detailed chemical kinetics

    International Nuclear Information System (INIS)

    Sun, Hongjie; Yan, Feng; Yu, Hao; Su, W.H.

    2015-01-01

    Highlights: • We explored the exergy loss sources of gasoline engine like combustion process. • The model combined non-equilibrium thermodynamics with detailed chemical kinetics. • We explored effects of initial conditions on exergy loss of combustion process. • Exergy loss decreases 15% of fuel chemical exergy by design of initial conditions. • Correspondingly, the second law efficiency increases from 38.9% to 68.9%. - Abstract: Chemical reaction is the most important source of combustion irreversibility in premixed conditions, but details of the exergy loss mechanisms have not been explored yet. In this study numerical analysis based on non-equilibrium thermodynamics combined with detailed chemical kinetics is conducted to explore the exergy loss mechanism of gasoline engine like combustion process which is simplified as constant volume combustion. The fuel is represented by the common accepted gasoline surrogates which consist of four components: iso-octane (57%), n-heptane (16%), toluene (23%), and 2-pentene (4%). We find that overall exergy loss is mainly composed of three peaks along combustion generated from chemical reactions in three stages, the conversion from large fuel molecules into small molecules (as Stage 1), the H 2 O 2 loop-related reactions (as Stage 2), and the violent oxidation reactions of CO, H, and O (as Stage 3). The effects of individual combustion boundaries, including temperature, pressure, equivalence ratio, oxygen concentration, on combustion exergy loss have been widely investigated. The combined effects of combustion boundaries on the total loss of gasoline surrogates are also investigated. We find that in a gasoline engine with a compression ratio of 10, the total loss can be reduced from 31.3% to 24.3% using lean combustion. The total loss can be further reduced to 22.4% by introducing exhaust gas recirculation and boosting the inlet charge. If the compression ratio is increased to 17, the total loss can be decreased to

  1. Detailed analysis of evolution of the state of polarization in all-fiber polarization transformers.

    Science.gov (United States)

    Zhu, Xiushan; Jain, Ravinder K

    2006-10-30

    We present a detailed analysis of key attributes and performance characteristics of controllably-spun birefringent-fiber-based all-fiber waveplates or "all fiber polarization transformers" (AFPTs), first proposed and demonstrated by Huang [11]; these AFPTs consist essentially of a long carefully-designed "spin-twisted" high-birefringence fiber, fabricated by slowly varying the spin rate of a birefringent fiber preform (either from very fast to very slow or vice versa) while the fiber is being drawn. The evolution of the eigenstate from a linear polarization state to a circular polarization state, induced by slow variation of the intrinsic structure from linear anisotropy at the unspun end to circular anisotropy at the fast-spun end, enables the AFPT to behave like an all-fiber quarter-wave plate independent of the wavelength of operation. Power coupling between local eigenstates causes unique evolution of the polarization state along the fiber, and has been studied to gain insight into - as well as to understand detailed characteristics of -- the polarization transformation behavior. This has been graphically illustrated via plots of the relative power in these local eigenstates as a function of distance along the length of the fiber and plots of the extinction ratio of the output state of polarization (SOP) as a function of distance and the normalized spin rate. Deeper understanding of such polarization transformers has been further elucidated by quantitative calculations related to two crucial requirements for fabricating practical AFPT devices. Our calculations have also indicated that the polarization mode dispersion behaviour of the AFPT is much smaller than that of the original birefringent fiber. Finally, a specific AFPT was experimentally investigated at two widely-separated wavelengths (1310 nm and 1550 nm) of interest in telecommunications systems applications, further demonstrating and elucidating the broadband character of such AFPTs.

  2. Extended HLA-D region haplotype associated with celiac disease

    International Nuclear Information System (INIS)

    Howell, M.D.; Smith, J.R.; Austin, R.K.; Kelleher, D.; Nepom, G.T.; Volk, B.; Kagnoff, M.F.

    1988-01-01

    Celiac disease has one of the strongest associations with HLA (human leukocyte antigen) class II markers of the known HLA-linked diseases. This association is primarily with the class II serologic specificities HLA-DR3 and -DQw2. The authors previously described a restriction fragment length polymorphism (RFLP) characterized by the presence of a 4.0-kilobase Rsa I fragment derived from an HLA class II β-chain gene, which distinguishes the class II HLA haplotype of celiac disease patients from those of many serologically matched controls. They now report the isolation of this β-chain gene from a bacteriophage genomic library constructed from the DNA of a celiac disease patient. Based on restriction mapping and differential hybridization with class II cDNA and oligonucleotide probes, this gene was identified as one encoding an HLA-DP β-chain. This celiac disease-associated HLA-DP β-chain gene was flanked by HLA-DP α-chain genes and, therefore, was probably in its normal chromosomal location. The HLA-DPα-chain genes of celiac disease patients also were studied by RFLP analysis. Celiac disease is associated with a subset of HLA-DR3, -DQw2 haplotypes characterized by HLA-DP α- and β-chain gene RFLPs. Within the celiac-disease patient population, the joint segregation of these HLA-DP genes with those encoding the serologic specificities HLA-DR3 and -DQw2 indicates: (i) that the class II HLA haplotype associated with celiac disease is extended throughout the entire HLA-D region, and (ii) that celiac-disease susceptibility genes may reside as far centromeric on this haplotype as the HLA-DP subregion

  3. Extended HLA-D region haplotype associated with celiac disease

    Energy Technology Data Exchange (ETDEWEB)

    Howell, M.D.; Smith, J.R.; Austin, R.K.; Kelleher, D.; Nepom, G.T.; Volk, B.; Kagnoff, M.F.

    1988-01-01

    Celiac disease has one of the strongest associations with HLA (human leukocyte antigen) class II markers of the known HLA-linked diseases. This association is primarily with the class II serologic specificities HLA-DR3 and -DQw2. The authors previously described a restriction fragment length polymorphism (RFLP) characterized by the presence of a 4.0-kilobase Rsa I fragment derived from an HLA class II ..beta..-chain gene, which distinguishes the class II HLA haplotype of celiac disease patients from those of many serologically matched controls. They now report the isolation of this ..beta..-chain gene from a bacteriophage genomic library constructed from the DNA of a celiac disease patient. Based on restriction mapping and differential hybridization with class II cDNA and oligonucleotide probes, this gene was identified as one encoding an HLA-DP ..beta..-chain. This celiac disease-associated HLA-DP ..beta..-chain gene was flanked by HLA-DP ..cap alpha..-chain genes and, therefore, was probably in its normal chromosomal location. The HLA-DP..cap alpha..-chain genes of celiac disease patients also were studied by RFLP analysis. Celiac disease is associated with a subset of HLA-DR3, -DQw2 haplotypes characterized by HLA-DP ..cap alpha..- and ..beta..-chain gene RFLPs. Within the celiac-disease patient population, the joint segregation of these HLA-DP genes with those encoding the serologic specificities HLA-DR3 and -DQw2 indicates: (i) that the class II HLA haplotype associated with celiac disease is extended throughout the entire HLA-D region, and (ii) that celiac-disease susceptibility genes may reside as far centromeric on this haplotype as the HLA-DP subregion.

  4. Association between β2-adrenoceptor (ADRB2) haplotypes and insulin resistance in PCOS.

    Science.gov (United States)

    Tellechea, Mariana L; Muzzio, Damián O; Iglesias Molli, Andrea E; Belli, Susana H; Graffigna, Mabel N; Levalle, Oscar A; Frechtel, Gustavo D; Cerrone, Gloria E

    2013-04-01

    The aim of this study was to explore β2-adrenoceptor (ADRB2) haplotype associations with phenotypes and quantitative traits related to insulin resistance (IR) and the metabolic syndrome (MS) in a polycystic ovary syndrome (PCOS) population. A secondary purpose was to assess the association between ADRB2 haplotype and PCOS. Genetic polymorphism analysis. Cross-sectional case-control association study. Medical University Hospital and research laboratory. One hundred and sixty-five unrelated women with PCOS and 116 unrelated women without PCOS (control sample). Clinical and biochemical measurements, and ADRB2 genotyping in PCOS patients and control subjects. ADRB2 haplotypes (comprising rs1042711, rs1801704, rs1042713 and rs1042714 in that order), genotyping and statistical analysis to evaluate associations with continuous variables and traits related to IR and MS in a PCOS population. Associations between ADRB2 haplotypes and PCOS were also assessed. We observed an age-adjusted association between ADRB2 haplotype CCGG and lower insulin (P = 0·018) and HOMA (P = 0·008) in the PCOS sample. Interestingly, the expected differences in surrogate measures of IR between cases and controls were not significant in CCGG/CCGG carriers. In the case-control study, genotype CCGG/CCGG was associated with a 14% decrease in PCOS risk (P = 0·043), taking into account confounding variables. Haplotype I (CCGG) has a protective role for IR and MS in PCOS. © 2012 Blackwell Publishing Ltd.

  5. Detailed performance analysis of realistic solar photovoltaic systems at extensive climatic conditions

    International Nuclear Information System (INIS)

    Gupta, Ankit; Chauhan, Yogesh K.

    2016-01-01

    In recent years, solar energy has been considered as one of the principle renewable energy source for electric power generation. In this paper, single diode photovoltaic (PV) system and double/bypass diode based PV system are designed in MATLAB/Simulink environment based on their mathematical modeling and are validated with a commercially available solar panel. The novelty of the paper is to include the effect of climatic conditions i.e. variable irradiation level, wind speed, temperature, humidity level and dust accumulation in the modeling of both the PV systems to represent a realistic PV system. The comprehensive investigations are made on both the modeled PV systems. The obtained results show the satisfactory performance for realistic models of the PV system. Furthermore, an in depth comparative analysis is carried out for both PV systems. - Highlights: • Modeling of Single diode and Double diode PV systems in MATLAB/Simulink software. • Validation of designed PV systems with a commercially available PV panel. • Acquisition and employment of key climatic factors in modeling of the PV systems. • Evaluation of main model parameters of both the PV systems. • Detailed comparative assessment of both the modeled PV system parameters.

  6. The neutral kaon decays to $\\pi^+ \\pi^- \\pi^0$ a detailed analysis of the CPLEAR data

    CERN Document Server

    Angelopoulos, Angelos; Aslanides, Elie; Backenstoss, Gerhard; Bargassa, P; Behnke, O; Benelli, A; Bertin, V; Blanc, F; Bloch, P; Carlson, P J; Carroll, M; Cawley, E; Chertok, M B; Danielsson, M; Dejardin, M; Derré, J; Ealet, A; Eleftheriadis, C; Faravel, L; Fassnacht, P; Fetscher, W; Fidecaro, Maria; Filipcic, A; Francis, D; Fry, J; Gabathuler, Erwin; Gamet, R; Gerber, H J; Go, A; Haselden, A; Hayman, P J; Henry-Coüannier, F; Hollander, R W; Jon-And, K; Kettle, P R; Kokkas, P; Kreuger, R; Le Gac, R; Leimgruber, F; Mandic, I; Manthos, N; Marel, Gérard; Mikuz, M; Miller, J; Montanet, François; Nakada, Tatsuya; Pagels, B; Papadopoulos, I M; Pavlopoulos, P; Polivka, G; Rickenbach, R; Roberts, B L; Ruf, T; Schäfer, M; Schaller, L A; Schietinger, T; Schopper, A; Tauscher, Ludwig; Thibault, C; Touchard, F; Touramanis, C; van Eijk, C W E; Vlachos, S; Weber, P; Wigger, O; Wolter, M; Zavrtanik, D; Zimmerman, D

    1998-01-01

    A detailed analysis of neutral kaons decaying to \\Pgpp \\Pgpm \\Pgpz\\ is presented based on the complete data set containing half a million events. Time-dependent decay rate asymmetries are measured between initially tagged \\PKz\\ and \\PaKz\\ and for different regions of the phase space. These asymmetries, resulting from the interference between the CP-conserving decay amplitude of \\PKzL\\ and the decay amplitude of \\PKzS\\ -- either CP-violating or CP-conserving -- allow the determinationof the \\PKzS\\ parameters \\etapmz\\ (CP-violating) and \\lampmz\\ (CP-conserving), and also of the main i sospin components of the \\PKzS\\ decay amplitude. The branching ratio of \\PKzS\\ $\\rightarrow$ \\Pgpp \\Pgpm \\Pgpz\\ (CP-conserving) is deduced directly from \\lampmz . In addition, we extract the slope parameters describing the energy dependence of the $\\PKzL \\rightarrow \\Pgpp \\Pgpm \\Pgpz $ Dalitz plot. The whole set of our results fits well within the current phenomenological picture of the neut ral-kaon system including CP violation ...

  7. [Haplotype Analysis of Coagulation Factor VII Gene in a Patient with Congenital Coagulation Factor VII Deficiency with Heterozygous p.Arg337Cys Mutation and o.Aro413Gin Polymorphism..

    Science.gov (United States)

    Suzuki, Keijiro; Yoshioka, Tomoko; Obara, Takehiro; Suwabe, Akira

    2016-05-01

    Congenital coagulation factor VII (FVII) deficiency is a rare hemorrhagic disease with an autosomal reces- sive inheritance pattern. We analyzed coagulation factor VII gene (F7) of a patient with FVII deficiency and used expression studies to investigate the effect of a missense mutation on FVII secretion. The proband, a 69-year-old Japanese woman, had a history of postpartum bleeding and excessive bleeding after dental extrac- tion. She was found to have mildly increased PT-INR (1.17) before an ophthalmic operation. FVII activity and antigen were reduced (29.0% and 32.8%). Suspecting that the proband was FVII deficient, we analyzed F7 of the patient. Sequence analysis revealed that the patient was heterozygous for a point mutation (p.Arg337Cys) in the catalytic domain and polymorphisms: the decanucleotide insertion at the promoter re- gion, dimorphism (c.525C >T) in exon 5, and p.Arg413Gln in exon 8. Haplotype analysis clarified that p.Arg337Cys was located on the p.Arg413 allele (Ml allele). The other allele had the p.Arg413Gln polymor- phism(M2 allele) which is known to produce less FVII. Expression studies revealed that p.Arg337Cys causes impairment of FVII secretion. Insufficient secretion of FVII arising from both the p.Arg337Cys/M1 allele and the p.Arg337/M2 allele might lower the FVII level of this patient(<50%). The FVII level in a heterozygous FVII deficient patient might be influenced by F7 polymorphisms on the normal allele. There- fore, genetic analyses are important for the diagnosis of heterozygous FVII deficiency.

  8. Analysis of Detailed Energy Audits and Energy Use Measures of University Buildings

    Directory of Open Access Journals (Sweden)

    Kęstutis Valančius

    2011-12-01

    Full Text Available The paper explains the results of a detailed energy audit of the buildings of Vilnius Gediminas Technical University. Energy audits were performed with reference to the international scientific project. The article presents the methodology and results of detailed measurements of energy balance characteristics.Article in Lithuanian

  9. Detailed analysis of latencies in image-based dynamic MLC tracking

    International Nuclear Information System (INIS)

    Poulsen, Per Rugaard; Cho, Byungchul; Sawant, Amit; Ruan, Dan; Keall, Paul J.

    2010-01-01

    Purpose: Previous measurements of the accuracy of image-based real-time dynamic multileaf collimator (DMLC) tracking show that the major contributor to errors is latency, i.e., the delay between target motion and MLC response. Therefore the purpose of this work was to develop a method for detailed analysis of latency contributions during image-based DMLC tracking. Methods: A prototype DMLC tracking system integrated with a linear accelerator was used for tracking a phantom with an embedded fiducial marker during treatment delivery. The phantom performed a sinusoidal motion. Real-time target localization was based on x-ray images acquired either with a portal imager or a kV imager mounted orthogonal to the treatment beam. Each image was stored in a file on the imaging workstation. A marker segmentation program opened the image file, determined the marker position in the image, and transferred it to the DMLC tracking program. This program estimated the three-dimensional target position by a single-imager method and adjusted the MLC aperture to the target position. Imaging intervals ΔT image from 150 to 1000 ms were investigated for both kV and MV imaging. After the experiments, the recorded images were synchronized with MLC log files generated by the MLC controller and tracking log files generated by the tracking program. This synchronization allowed temporal analysis of the information flow for each individual image from acquisition to completed MLC adjustment. The synchronization also allowed investigation of the MLC adjustment dynamics on a considerably finer time scale than the 50 ms time resolution of the MLC log files. Results: For ΔT image =150 ms, the total time from image acquisition to completed MLC adjustment was 380±9 ms for MV and 420±12 ms for kV images. The main part of this time was from image acquisition to completed image file writing (272 ms for MV and 309 ms for kV). Image file opening (38 ms), marker segmentation (4 ms), MLC position

  10. Detailed analysis of latencies in image-based dynamic MLC tracking

    Energy Technology Data Exchange (ETDEWEB)

    Poulsen, Per Rugaard; Cho, Byungchul; Sawant, Amit; Ruan, Dan; Keall, Paul J. [Department of Radiation Oncology, Stanford University, Stanford, California 94305 and Department of Oncology and Department of Medical Physics, Aarhus University Hospital, 8000 Aarhus (Denmark); Department of Radiation Oncology, Stanford University, Stanford, California 94305 and Department of Radiation Oncology, Asan Medical Center, Seoul 138-736 (Korea, Republic of); Department of Radiation Oncology, Stanford University, Stanford, California 94305 (United States)

    2010-09-15

    Purpose: Previous measurements of the accuracy of image-based real-time dynamic multileaf collimator (DMLC) tracking show that the major contributor to errors is latency, i.e., the delay between target motion and MLC response. Therefore the purpose of this work was to develop a method for detailed analysis of latency contributions during image-based DMLC tracking. Methods: A prototype DMLC tracking system integrated with a linear accelerator was used for tracking a phantom with an embedded fiducial marker during treatment delivery. The phantom performed a sinusoidal motion. Real-time target localization was based on x-ray images acquired either with a portal imager or a kV imager mounted orthogonal to the treatment beam. Each image was stored in a file on the imaging workstation. A marker segmentation program opened the image file, determined the marker position in the image, and transferred it to the DMLC tracking program. This program estimated the three-dimensional target position by a single-imager method and adjusted the MLC aperture to the target position. Imaging intervals {Delta}T{sub image} from 150 to 1000 ms were investigated for both kV and MV imaging. After the experiments, the recorded images were synchronized with MLC log files generated by the MLC controller and tracking log files generated by the tracking program. This synchronization allowed temporal analysis of the information flow for each individual image from acquisition to completed MLC adjustment. The synchronization also allowed investigation of the MLC adjustment dynamics on a considerably finer time scale than the 50 ms time resolution of the MLC log files. Results: For {Delta}T{sub image}=150 ms, the total time from image acquisition to completed MLC adjustment was 380{+-}9 ms for MV and 420{+-}12 ms for kV images. The main part of this time was from image acquisition to completed image file writing (272 ms for MV and 309 ms for kV). Image file opening (38 ms), marker segmentation (4 ms

  11. Unique haplotypes of cacao trees as revealed by trnH-psbA chloroplast DNA

    Directory of Open Access Journals (Sweden)

    Nidia Gutiérrez-López

    2016-04-01

    Full Text Available Cacao trees have been cultivated in Mesoamerica for at least 4,000 years. In this study, we analyzed sequence variation in the chloroplast DNA trnH-psbA intergenic spacer from 28 cacao trees from different farms in the Soconusco region in southern Mexico. Genetic relationships were established by two analysis approaches based on geographic origin (five populations and genetic origin (based on a previous study. We identified six polymorphic sites, including five insertion/deletion (indels types and one transversion. The overall nucleotide diversity was low for both approaches (geographic = 0.0032 and genetic = 0.0038. Conversely, we obtained moderate to high haplotype diversity (0.66 and 0.80 with 10 and 12 haplotypes, respectively. The common haplotype (H1 for both networks included cacao trees from all geographic locations (geographic approach and four genetic groups (genetic approach. This common haplotype (ancient derived a set of intermediate haplotypes and singletons interconnected by one or two mutational steps, which suggested directional selection and event purification from the expansion of narrow populations. Cacao trees from Soconusco region were grouped into one cluster without any evidence of subclustering based on AMOVA (FST = 0 and SAMOVA (FST = 0.04393 results. One population (Mazatán showed a high haplotype frequency; thus, this population could be considered an important reservoir of genetic material. The indels located in the trnH-psbA intergenic spacer of cacao trees could be useful as markers for the development of DNA barcoding.

  12. VNTR alleles associated with the {alpha}-globin locus are haplotype and population related

    Energy Technology Data Exchange (ETDEWEB)

    Martinson, J.J.; Clegg, J.B.; Boyce, A.J. [Univ. of Oxford (United Kingdom)

    1994-09-01

    The human {alpha}-globin complex contains several polymorphic restriction-enzyme sites (i.e., RFLPs) linked to form haplotypes and is flanked by two hypervariable VNTR loci, the 5{prime} hypervariable region (HVR) and the more highly polymorphic 3{prime}HVR. Using a combination of RFLP analysis and PCR, the authors have characterized the 5{prime}HVR and 3{prime}HVR alleles associated with the {alpha}-globin haplotypes of 133 chromosomes, and they here show that specific {alpha}-globin haplotypes are each associated with discrete subsets of the alleles observed at these two VNTR loci. This statistically highly significant association is observed over a region spanning {approximately} 100 kb. With the exception of closely related haplotypes, different haplotypes do not share identically sized 3{prime}HVR alleles. Earlier studies have shown that {alpha}-globin haplotype distributions differ between populations; the current findings also reveal extensive population substructure in the repertoire of {alpha}-globin VNTRs. If similar features are characteristic of other VNTR loci, this will have important implications for forensic and anthropological studies. 42 refs., 5 figs., 5 tabs.

  13. MCP1 haplotypes associated with protection from pulmonary tuberculosis

    Directory of Open Access Journals (Sweden)

    Owusu-Dabo Ellis

    2011-04-01

    Full Text Available Abstract Background The monocyte chemoattractant protein 1 (MCP-1 is involved in the recruitment of lymphocytes and monocytes and their migration to sites of injury and cellular immune reactions. In a Ghanaian tuberculosis (TB case-control study group, associations of the MCP1 -362C and the MCP1 -2581G alleles with resistance to TB were recently described. The latter association was in contrast to genetic effects previously described in study groups originating from Mexico, Korea, Peru and Zambia. This inconsistency prompted us to further investigate the MCP1 gene in order to determine causal variants or haplotypes genetically and functionally. Results A 14 base-pair deletion in the first MCP1 intron, int1del554-567, was strongly associated with protection against pulmonary TB (OR = 0.84, CI 0.77-0.92, Pcorrected = 0.00098. Compared to the wildtype combination, a haplotype comprising the -2581G and -362C promoter variants and the intronic deletion conferred an even stronger protection than did the -362C variant alone (OR = 0.78, CI 0.69-0.87, Pnominal = 0.00002; adjusted Pglobal = 0.0028. In a luciferase reporter gene assay, a significant reduction of luciferase gene expression was observed in the two constructs carrying the MCP1 mutations -2581 A or G plus the combination -362C and int1del554-567 compared to the wildtype haplotype (P = 0.02 and P = 0.006. The associated variants, in particular the haplotypes composed of these latter variants, result in decreased MCP-1 expression and a decreased risk of pulmonary TB. Conclusions In addition to the results of the previous study of the Ghanaian TB case-control sample, we have now identified the haplotype combination -2581G/-362C/int1del554-567 that mediates considerably stronger protection than does the MCP1 -362C allele alone (OR = 0.78, CI 0.69-0.87 vs OR = 0.83, CI 0.76-0.91. Our findings in both the genetic analysis and the reporter gene study further indicate a largely negligible role of the

  14. Association mapping and haplotype analysis of a 3.1-Mb genomic region involved in Fusarium head blight resistance on wheat chromosome 3BS.

    Directory of Open Access Journals (Sweden)

    Chenyang Hao

    Full Text Available A previous study provided an in-depth understanding of molecular population genetics of European and Asian wheat gene pools using a sequenced 3.1-Mb contig (ctg954 on chromosome 3BS. This region is believed to carry the Fhb1 gene for response to Fusarium head blight. In this study, 266 wheat accessions were evaluated in three environments for Type II FHB response based on the single floret inoculation method. Hierarchical clustering (UPGMA based on a Manhattan dissimilarity matrix divided the accessions into eight groups according to five FHB-related traits which have a high correlation between them; Group VIII comprised six accessions with FHB response levels similar to variety Sumai 3. Based on the compressed mixed linear model (MLM, association analysis between five FHB-related traits and 42 molecular markers along the 3.1-Mb region revealed 12 significant association signals at a threshold of P0.1 and P0.05 within each HapB at r(2>0.1 and P<0.001 showed significant differences between the Hap carried by FHB resistant resources, such as Sumai 3 and Wangshuibai, and susceptible genotypes in HapB3 and HapB6. These results suggest that Fhb1 is located within HapB6, with the possibility that another gene is located at or near HapB3. SSR markers and Haps detected in this study will be helpful in further understanding the genetic basis of FHB resistance, and provide useful information for marker-assisted selection of Fhb1 in wheat breeding.

  15. A Model for the Detailed Analysis of Radio Links Involving Tree Canopies

    Directory of Open Access Journals (Sweden)

    F. Perez-Fontan

    2016-12-01

    Full Text Available Detailed analysis of tree canopy interaction with incident radiowaves has mainly been limited to remote sensing for the purpose of forest classification among many other applications. This represents a monostatic configuration, unlike the case of communication links, which are bistatic. In general, link analyses have been limited to the application of simple, empirical formulas based on the use of specific attenuation values in dB/m and the traversed vegetated mass as, e.g., the model in Recommendation ITU-R P.833-8 [1]. In remote sensing, two main techniques are used: Multiple Scattering Theory (MST [2][5] and Radiative Transfer Theory (RT, [5] and [6]. We have paid attention in the past to MST [7][10]. It was shown that a full application of MST leads to very long computation times which are unacceptable in the case where we have to analyze a scenario with several trees. Extensive work using MST has been also presented by others in [11][16] showing the interest in this technique. We have proposed a simplified model for scattering from tree canopies based on a hybridization of MST and a modified physical optics (PO approach [16]. We assume that propagation through a canopy is accounted for by using the complex valued propagation constant obtained by MST. Unlike the case when the full MST is applied, the proposed approach offers significant benefits including a direct software implementation and acceptable computation times even for high frequencies and electrically large canopies. The proposed model thus replaces the coherent component in MST, significant in the forward direction, but keeps the incoherent or diffuse scattering component present in all directions. The incoherent component can be calculated within reasonable times. Here, we present tests of the proposed model against MST using an artificial single-tree scenario at 2 GHz and 10 GHz.

  16. Propagating Disturbances in Coronal Loops: A Detailed Analysis of Propagation Speeds

    Science.gov (United States)

    Kiddie, G.; De Moortel, I.; Del Zanna, G.; McIntosh, S. W.; Whittaker, I.

    2012-08-01

    Quasi-periodic disturbances have been observed in the outer solar atmosphere for many years. Although first interpreted as upflows (Schrijver et al., Solar Phys. 187, 261, 1999), they have been widely regarded as slow magneto-acoustic waves, due to their observed velocities and periods. However, recent observations have questioned this interpretation, as periodic disturbances in Doppler velocity, line width, and profile asymmetry were found to be in phase with the intensity oscillations (De Pontieu and McIntosh, Astrophys. J. 722, 1013, 2010; Tian, McIntosh, and De Pontieu, Astrophys. J. Lett. 727, L37, 2011), suggesting that the disturbances could be quasi-periodic upflows. Here we conduct a detailed analysis of the velocities of these disturbances across several wavelengths using the Atmospheric Imaging Assembly (AIA) onboard the Solar Dynamics Observatory (SDO). We analysed 41 examples, including both sunspot and non-sunspot regions of the Sun. We found that the velocities of propagating disturbances (PDs) located at sunspots are more likely to be temperature dependent, whereas the velocities of PDs at non-sunspot locations do not show a clear temperature dependence. This suggests an interpretation in terms of slow magneto-acoustic waves in sunspots but the nature of PDs in non-sunspot (plage) regions remains unclear. We also considered on what scale the underlying driver is affecting the properties of the PDs. Finally, we found that removing the contribution due to the cooler ions in the 193 Å wavelength suggests that a substantial part of the 193 Å emission of sunspot PDs can be attributed to the cool component of 193 Å.

  17. Cardiometabolic risk in Canada: a detailed analysis and position paper by the cardiometabolic risk working group.

    Science.gov (United States)

    Leiter, Lawrence A; Fitchett, David H; Gilbert, Richard E; Gupta, Milan; Mancini, G B John; McFarlane, Philip A; Ross, Robert; Teoh, Hwee; Verma, Subodh; Anand, Sonia; Camelon, Kathryn; Chow, Chi-Ming; Cox, Jafna L; Després, Jean-Pierre; Genest, Jacques; Harris, Stewart B; Lau, David C W; Lewanczuk, Richard; Liu, Peter P; Lonn, Eva M; McPherson, Ruth; Poirier, Paul; Qaadri, Shafiq; Rabasa-Lhoret, Rémi; Rabkin, Simon W; Sharma, Arya M; Steele, Andrew W; Stone, James A; Tardif, Jean-Claude; Tobe, Sheldon; Ur, Ehud

    2011-01-01

    The concepts of "cardiometabolic risk," "metabolic syndrome," and "risk stratification" overlap and relate to the atherogenic process and development of type 2 diabetes. There is confusion about what these terms mean and how they can best be used to improve our understanding of cardiovascular disease treatment and prevention. With the objectives of clarifying these concepts and presenting practical strategies to identify and reduce cardiovascular risk in multiethnic patient populations, the Cardiometabolic Working Group reviewed the evidence related to emerging cardiovascular risk factors and Canadian guideline recommendations in order to present a detailed analysis and consolidated approach to the identification and management of cardiometabolic risk. The concepts related to cardiometabolic risk, pathophysiology, and strategies for identification and management (including health behaviours, pharmacotherapy, and surgery) in the multiethnic Canadian population are presented. "Global cardiometabolic risk" is proposed as an umbrella term for a comprehensive list of existing and emerging factors that predict cardiovascular disease and/or type 2 diabetes. Health behaviour interventions (weight loss, physical activity, diet, smoking cessation) in people identified at high cardiometabolic risk are of critical importance given the emerging crisis of obesity and the consequent epidemic of type 2 diabetes. Vascular protective measures (health behaviours for all patients and pharmacotherapy in appropriate patients) are essential to reduce cardiometabolic risk, and there is growing consensus that a multidisciplinary approach is needed to adequately address cardiometabolic risk factors. Health care professionals must also consider risk factors related to ethnicity in order to appropriately evaluate everyone in their diverse patient populations. Copyright © 2011 Elsevier Inc. All rights reserved.

  18. Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images

    International Nuclear Information System (INIS)

    Hayashi, N.; Tsutsumi, Y.; Barkovich, A.J.

    2002-01-01

    Although they are well documented in autopsy series, the macroscopic features and associated anomalies of schizencephalies have not been described in detail in a large clinical population. To assess the macroscopic findings of schizencephaly and the prevalence of associated findings, we conducted a retrospective MR analysis of a group of patients with schizencephaly. The MR studies of 35 patients with schizencephaly were retrospectively reviewed. The images were examined for the location and size of the schizencephalic cleft, the presence and location of associated polymicrogyria, and the presence, location, and severity of other brain anomalies. A total of 54 schizencephalic clefts were seen in the 35 patients. These clefts were unilateral in 18 (51%) patients and bilateral in 17 (49%) patients; three clefts were identified in two patients. Nine clefts (17%) had fused lips and 45 had separated-lip clefts (83%). Polymicrogyria was present inside 23 clefts (43%), while subependymal heterotopias were present at the cleft orifice in 27 clefts (50%). Polymicrogyria was identified outside the cleft, both adjacent to and remote from the cleft, in 23 patients (66%). Abnormal cerebral white-matter signal intensity was present in seven patients (20%), while white-matter volume diminution was noted in all patients. Ventricular diverticula with mass effect, roofing membranes, remnant floors, and cord-like remnants were present in 12, 1, 11, and 3 patients, respectively. Our results show that the spectrum of macroscopic findings in schizencephaly includes fused-lip and separated-lip clefts, polymicrogyric and non-polymicrogyric cleft linings, cyst-like diverticula and membranous structures, and subependymal heterotopia at the cleft. Concomitant anomalies are polymicrogyria outside the cleft, white-matter diminution, septal and optic pathway anomalies, callosal anomalies and hippocampal anomalies. Unilateral and bilateral clefts occur in a nearly equal frequency in the clinical

  19. Analysis of magnetic-dipole transitions in tungsten plasmas using detailed and configuration-average descriptions

    Science.gov (United States)

    Na, Xieyu; Poirier, Michel

    2017-06-01

    This paper is devoted to the analysis of transition arrays of magnetic-dipole (M1) type in highly charged ions. Such transitions play a significant role in highly ionized plasmas, for instance in the tungsten plasma present in tokamak devices. Using formulas recently published and their implementation in the Flexible Atomic Code for M1-transition array shifts and widths, absorption and emission spectra arising from transitions inside the 3*n complex of highly-charged tungsten ions are analyzed. A comparison of magnetic-dipole transitions with electric-dipole (E1) transitions shows that, while the latter are better described by transition array formulas, M1 absorption and emission structures reveal some insufficiency of these formulas. It is demonstrated that the detailed spectra account for significantly richer structures than those predicted by the transition array formalism. This is due to the fact that M1 transitions may occur between levels inside the same relativistic configuration, while such inner configuration transitions are not accounted for by the currently available averaging expression. In addition, because of configuration interaction, transition processes involving more than one electron jump, such as 3p1/23d5/2 → 3p3/23d3/2, are possible but not accounted for in the transition array formulas. These missing transitions are collected in pseudo-arrays using a post-processing method described in this paper. The relative influence of inner- and inter-configuration transitions is carefully analyzed in cases of tungsten ions with net charge around 50. The need for an additional theoretical development is emphasized.

  20. Detailed puncture analyses tank cars : analysis of different impactor threats and impact conditions.

    Science.gov (United States)

    2013-03-01

    There has been significant research in recent years to analyze and improve the impact behavior and puncture resistance of railroad tank cars. Much of this research has been performed using detailed nonlinear finite element analyses supported by full ...

  1. The impact of sample size and marker selection on the study of haplotype structures

    Directory of Open Access Journals (Sweden)

    Sun Xiao

    2004-03-01

    Full Text Available Abstract Several studies of haplotype structures in the human genome in various populations have found that the human chromosomes are structured such that each chromosome can be divided into many blocks, within which there is limited haplotype diversity. In addition, only a few genetic markers in a putative block are needed to capture most of the diversity within a block. There has been no systematic empirical study of the effects of sample size and marker set on the identified block structures and representative marker sets, however. The purpose of this study was to conduct a detailed empirical study to examine such impacts. Towards this goal, we have analysed three representative autosomal regions from a large genome-wide study of haplotypes with samples consisting of African-Americans and samples consisting of Japanese and Chinese individuals. For both populations, we have found that the sample size and marker set have significant impact on the number of blocks and the total number of representative markers identified. The marker set in particular has very strong impacts, and our results indicate that the marker density in the original datasets may not be adequate to allow a meaningful characterisation of haplotype structures. In general, we conclude that we need a relatively large sample size and a very dense marker panel in the study of haplotype structures in human populations.

  2. The effect of genealogy-based haplotypes on genomic prediction

    DEFF Research Database (Denmark)

    Edriss, Vahid; Fernando, Rohan L.; Su, Guosheng

    2013-01-01

    on haplotypes instead of regression on individual markers. The aim of this study was to investigate the accuracy of genomic prediction using haplotypes based on local genealogy information. Methods A total of 4429 Danish Holstein bulls were genotyped with the 50K SNP chip. Haplotypes were constructed using...... local genealogical trees. Effects of haplotype covariates were estimated with two types of prediction models: (1) assuming that effects had the same distribution for all haplotype covariates, i.e. the GBLUP method and (2) assuming that a large proportion (pi) of the haplotype covariates had zero effect......, i.e. a Bayesian mixture method. Results About 7.5 times more covariate effects were estimated when fitting haplotypes based on local genealogical trees compared to fitting individuals markers. Genealogy-based haplotype clustering slightly increased the accuracy of genomic prediction and, in some...

  3. Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR.

    Science.gov (United States)

    Tyson, Jess; Armour, John A L

    2012-12-11

    Genotyping and massively-parallel sequencing projects result in a vast amount of diploid data that is only rarely resolved into its constituent haplotypes. It is nevertheless this phased information that is transmitted from one generation to the next and is most directly associated with biological function and the genetic causes of biological effects. Despite progress made in genome-wide sequencing and phasing algorithms and methods, problems assembling (and reconstructing linear haplotypes in) regions of repetitive DNA and structural variation remain. These dynamic and structurally complex regions are often poorly understood from a sequence point of view. Regions such as these that are highly similar in their sequence tend to be collapsed onto the genome assembly. This is turn means downstream determination of the true sequence haplotype in these regions poses a particular challenge. For structurally complex regions, a more focussed approach to assembling haplotypes may be required. In order to investigate reconstruction of spatial information at structurally complex regions, we have used an emulsion haplotype fusion PCR approach to reproducibly link sequences of up to 1kb in length to allow phasing of multiple variants from neighbouring loci, using allele-specific PCR and sequencing to detect the phase. By using emulsion systems linking flanking regions to amplicons within the CNV, this led to the reconstruction of a 59kb haplotype across the DEFA1A3 CNV in HapMap individuals. This study has demonstrated a novel use for emulsion haplotype fusion PCR in addressing the issue of reconstructing structural haplotypes at multiallelic copy variable regions, using the DEFA1A3 locus as an example.

  4. Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR

    Directory of Open Access Journals (Sweden)

    Tyson Jess

    2012-12-01

    Full Text Available Abstract Background Genotyping and massively-parallel sequencing projects result in a vast amount of diploid data that is only rarely resolved into its constituent haplotypes. It is nevertheless this phased information that is transmitted from one generation to the next and is most directly associated with biological function and the genetic causes of biological effects. Despite progress made in genome-wide sequencing and phasing algorithms and methods, problems assembling (and reconstructing linear haplotypes in regions of repetitive DNA and structural variation remain. These dynamic and structurally complex regions are often poorly understood from a sequence point of view. Regions such as these that are highly similar in their sequence tend to be collapsed onto the genome assembly. This is turn means downstream determination of the true sequence haplotype in these regions poses a particular challenge. For structurally complex regions, a more focussed approach to assembling haplotypes may be required. Results In order to investigate reconstruction of spatial information at structurally complex regions, we have used an emulsion haplotype fusion PCR approach to reproducibly link sequences of up to 1kb in length to allow phasing of multiple variants from neighbouring loci, using allele-specific PCR and sequencing to detect the phase. By using emulsion systems linking flanking regions to amplicons within the CNV, this led to the reconstruction of a 59kb haplotype across the DEFA1A3 CNV in HapMap individuals. Conclusion This study has demonstrated a novel use for emulsion haplotype fusion PCR in addressing the issue of reconstructing structural haplotypes at multiallelic copy variable regions, using the DEFA1A3 locus as an example.

  5. Feasibility study for biomass power plants in Thailand. Volume 2. appendix: Detailed financial analysis results. Export trade information

    International Nuclear Information System (INIS)

    1997-01-01

    This study, conducted by Black and Veatch, was funded by the U.S. Trade and Development Agency. The report presents a technical and commercial analysis for the development of three nearly identical electricity generating facilities (biomass steam power plants) in the towns of Chachgoengsao, Suphan Buri, and Pichit in Thailand. Volume 2 of the study contains the following appendix: Detailed Financial Analysis Results

  6. Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population.

    Science.gov (United States)

    Fukushima-Uesaka, Hiromi; Saito, Yoshiro; Watanabe, Hidemi; Shiseki, Kisho; Saeki, Mayumi; Nakamura, Takahiro; Kurose, Kouichi; Sai, Kimie; Komamura, Kazuo; Ueno, Kazuyuki; Kamakura, Shiro; Kitakaze, Masafumi; Hanai, Sotaro; Nakajima, Toshiharu; Matsumoto, Kenji; Saito, Hirohisa; Goto, Yu-ichi; Kimura, Hideo; Katoh, Masaaki; Sugai, Kenji; Minami, Narihiro; Shirao, Kuniaki; Tamura, Tomohide; Yamamoto, Noboru; Minami, Hironobu; Ohtsu, Atsushi; Yoshida, Teruhiko; Saijo, Nagahiro; Kitamura, Yutaka; Kamatani, Naoyuki; Ozawa, Shogo; Sawada, Jun-ichi

    2004-01-01

    In order to identify single nucleotide polymorphisms (SNPs) and haplotype frequencies of CYP3A4 in a Japanese population, the distal enhancer and proximal promoter regions, all exons, and the surrounding introns were sequenced from genomic DNA of 416 Japanese subjects. We found 24 SNPs, including 17 novel ones: two in the distal enhancer, four in the proximal promoter, one in the 5'-untranslated region (UTR), seven in the introns, and three in the 3'-UTR. The most common SNP was c.1026+12G>A (IVS10+12G>A), with a 0.249 frequency. Four non-synonymous SNPs, c.554C>G (p.T185S, CYP3A4(*)16), c.830_831insA (p.E277fsX8, (*)6), c.878T>C (p.L293P, (*)18), and c.1088 C>T (p.T363M, (*)11) were found with frequencies of 0.014, 0.001, 0.028, and 0.002, respectively. No SNP was found in the known nuclear transcriptional factor-binding sites in the enhancer and promoter regions. Using these 24 SNPs, 16 haplotypes were unambiguously identified, and nine haplotypes were inferred by aid of an expectation-maximization-based program. In addition, using data from 186 subjects enabled a close linkage to be found between CYP3A4 and CYP3A5 SNPs, especially among the SNPs at c.1026+12 in CYP3A4 and c.219-237 (IVS3-237, a key SNP site for CYP3A5(*)3), c.865+77 (IVS9+77) and c.1523 in CYP3A5. This result suggested that CYP3A4 and CYP3A5 are within the same gene block. Haplotype analysis between CYP3A4 and CYP3A5 revealed several major haplotype combinations in the CYP3A4-CYP3A5 block. Our findings provide fundamental and useful information for genotyping CYP3A4 (and CYP3A5) in the Japanese, and probably Asian populations. Copyright 2003 Wiley-Liss, Inc.

  7. Author Details

    African Journals Online (AJOL)

    PROMOTING ACCESS TO AFRICAN RESEARCH. AFRICAN JOURNALS ONLINE (AJOL) · Journals · Advanced Search · USING AJOL · RESOURCES. Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads.

  8. Author Details

    African Journals Online (AJOL)

    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... An algorithm to retrieve Land Surface Temperature using Landsat-8 Dataset Abstract PDF. ISSN: 2225-8531.

  9. Detailed analysis of contrast-enhanced MRI of hands and wrists in patients with psoriatic arthritis

    International Nuclear Information System (INIS)

    Tehranzadeh, Jamshid; Ashikyan, Oganes; Anavim, Arash; Shin, John

    2008-01-01

    The objective was to perform detailed analysis of the involved soft tissues, tendons, joints, and bones in the hands and wrists of patients with psoriatic arthritis (PsA). We reviewed 23 contrast-enhanced MR imaging studies (13 hands and 10 wrists) in 10 patients with the clinical diagnosis of PsA. We obtained clinical information from medical records and evaluated images for the presence of erosions, bone marrow edema, joint synovitis, tenosynovitis, carpal tunnel, and soft tissue involvement. Two board-certified musculoskeletal radiologists reviewed all images independently. Differences were resolved during a subsequent joint session. The average duration of disease was 71.3 months, ranging from 1 month to 25 years. Eight of the 10 wrists (80%) and 6 of the 13 hands demonstrated bone erosions. Bone marrow abnormalities were shown in 5 of the 10 wrists (50%) and 4 of the 14 hands (31%). Triangular fibrocartilage tears were seen in 6 of the 10 wrists (60%). Wrist and hand joint synovitis were present in all studies (67 wrist joints and 101 hand joints). Wrist soft tissue involvement was detected in 9 of the 10 wrists (90%) and hand soft tissue involvement was present in 12 of the 13 wrists (92%). Findings adjacent to the region of soft tissue involvement included synovitis (4 wrists) and tenosynovitis (3 wrists). Bone marrow edema adjacent to the region of soft tissue involvement was seen in one wrist. Bulge of the flexor retinaculum was seen in 4 of the 10 wrists (40%) and median nerve enhancement was seen in 8 of the 10 wrists (80%). Tenosynovitis was seen in all studies (all 10 of the hands and all 13 of the wrists). The ''rheumatoid'' type of distribution of bony lesions was common in our study. Interobserver agreement for various findings ranged from 83% to 100%. Contrast-enhanced MRI unequivocally demonstrated bone marrow edema, erosions, tendon and soft-tissue disease, and median nerve involvement, with good interobserver reliability in patients with PsA of

  10. Detailed analysis of contrast-enhanced MRI of hands and wrists in patients with psoriatic arthritis

    Energy Technology Data Exchange (ETDEWEB)

    Tehranzadeh, Jamshid [University of California, Department of Radiological Sciences, Irvine (United States); University of California Medical Center, Department of Radiological Sciences R-140, Orange, CA (United States); Ashikyan, Oganes; Anavim, Arash; Shin, John [University of California, Department of Radiological Sciences, Irvine (United States)

    2008-05-15

    The objective was to perform detailed analysis of the involved soft tissues, tendons, joints, and bones in the hands and wrists of patients with psoriatic arthritis (PsA). We reviewed 23 contrast-enhanced MR imaging studies (13 hands and 10 wrists) in 10 patients with the clinical diagnosis of PsA. We obtained clinical information from medical records and evaluated images for the presence of erosions, bone marrow edema, joint synovitis, tenosynovitis, carpal tunnel, and soft tissue involvement. Two board-certified musculoskeletal radiologists reviewed all images independently. Differences were resolved during a subsequent joint session. The average duration of disease was 71.3 months, ranging from 1 month to 25 years. Eight of the 10 wrists (80%) and 6 of the 13 hands demonstrated bone erosions. Bone marrow abnormalities were shown in 5 of the 10 wrists (50%) and 4 of the 14 hands (31%). Triangular fibrocartilage tears were seen in 6 of the 10 wrists (60%). Wrist and hand joint synovitis were present in all studies (67 wrist joints and 101 hand joints). Wrist soft tissue involvement was detected in 9 of the 10 wrists (90%) and hand soft tissue involvement was present in 12 of the 13 wrists (92%). Findings adjacent to the region of soft tissue involvement included synovitis (4 wrists) and tenosynovitis (3 wrists). Bone marrow edema adjacent to the region of soft tissue involvement was seen in one wrist. Bulge of the flexor retinaculum was seen in 4 of the 10 wrists (40%) and median nerve enhancement was seen in 8 of the 10 wrists (80%). Tenosynovitis was seen in all studies (all 10 of the hands and all 13 of the wrists). The 'rheumatoid' type of distribution of bony lesions was common in our study. Interobserver agreement for various findings ranged from 83% to 100%. Contrast-enhanced MRI unequivocally demonstrated bone marrow edema, erosions, tendon and soft-tissue disease, and median nerve involvement, with good interobserver reliability in patients with

  11. A haplotype specific to North European wheat (Triticum aestivum L.)

    Czech Academy of Sciences Publication Activity Database

    Tsombalova, J.; Karafiátová, Miroslava; Vrána, Jan; Kubaláková, Marie; Peusa, H.; Jakobson, I.; Jarve, M.; Valárik, Miroslav; Doležel, Jaroslav; Jarve, K.

    2017-01-01

    Roč. 64, č. 4 (2017), s. 653-664 ISSN 0925-9864 R&D Projects: GA MŠk(CZ) LO1204; GA ČR(CZ) GA14-07164S Institutional support: RVO:61389030 Keywords : bread wheat * genetic diversity * polyploid wheat * introgression lines * molecular analysis * tetraploid wheat * hexaploid wheat * powdery mildew * spelta l. * map * Common wheat * Triticum aestivum L * Spelt * Triticum spelta L * Chromosome 4A * Zero alleles * Haplotype * Linkage disequilibrium Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Plant sciences, botany Impact factor: 1.294, year: 2016

  12. Author Details

    African Journals Online (AJOL)

    Details PDF · Vol 22, No 2 (1999) - Articles Vegetation under different tree species in Acacia woodland in the Rift Valley of Ethiopia Details PDF · Vol 22, No 2 (1999) - Articles Preliminary evaluation of Phytomyza orobanchia (Diptera: Agromyzidae) as a controller of Orobanche spp in Ethiopia Details PDF. ISSN: 2520–7997.

  13. A Haplotype Information Theory Method Reveals Genes of Evolutionary Interest in European vs. Asian Pigs.

    Science.gov (United States)

    Hudson, Nicholas J; Naval-Sánchez, Marina; Porto-Neto, Laercio; Pérez-Enciso, Miguel; Reverter, Antonio

    2018-06-05

    Asian and European wild boars were independently domesticated ca. 10,000 years ago. Since the 17th century, Chinese breeds have been imported to Europe to improve the genetics of European animals by introgression of favourable alleles, resulting in a complex mosaic of haplotypes. To interrogate the structure of these haplotypes further, we have run a new haplotype segregation analysis based on information theory, namely compression efficiency (CE). We applied the approach to sequence data from individuals from each phylogeographic region (n = 23 from Asia and Europe) including a number of major pig breeds. Our genome-wide CE is able to discriminate the breeds in a manner reflecting phylogeography. Furthermore, 24,956 non-overlapping sliding windows (each comprising 1,000 consecutive SNP) were quantified for extent of haplotype sharing within and between Asia and Europe. The genome-wide distribution of extent of haplotype sharing was quite different between groups. Unlike European pigs, Asian pigs haplotype sharing approximates a normal distribution. In line with this, we found the European breeds possessed a number of genomic windows of dramatically higher haplotype sharing than the Asian breeds. Our CE analysis of sliding windows capture some of the genomic regions reported to contain signatures of selection in domestic pigs. Prominent among these regions, we highlight the role of a gene encoding the mitochondrial enzyme LACTB which has been associated with obesity, and the gene encoding MYOG a fundamental transcriptional regulator of myogenesis. The origin of these regions likely reflects either a population bottleneck in European animals, or selective targets on commercial phenotypes reducing allelic diversity in particular genes and/or regulatory regions.

  14. Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus.

    Directory of Open Access Journals (Sweden)

    Chul-Woo Pyo

    Full Text Available The fast evolving human KIR gene family encodes variable lymphocyte receptors specific for polymorphic HLA class I determinants. Nucleotide sequences for 24 representative human KIR haplotypes were determined. With three previously defined haplotypes, this gave a set of 12 group A and 15 group B haplotypes for assessment of KIR variation. The seven gene-content haplotypes are all combinations of four centromeric and two telomeric motifs. 2DL5, 2DS5 and 2DS3 can be present in centromeric and telomeric locations. With one exception, haplotypes having identical gene content differed in their combinations of KIR alleles. Sequence diversity varied between haplotype groups and between centromeric and telomeric halves of the KIR locus. The most variable A haplotype genes are in the telomeric half, whereas the most variable genes characterizing B haplotypes are in the centromeric half. Of the highly polymorphic genes, only the 3DL3 framework gene exhibits a similar diversity when carried by A and B haplotypes. Phylogenetic analysis and divergence time estimates, point to the centromeric gene-content motifs that distinguish A and B haplotypes having emerged ~6 million years ago, contemporaneously with the separation of human and chimpanzee ancestors. In contrast, the telomeric motifs that distinguish A and B haplotypes emerged more recently, ~1.7 million years ago, before the emergence of Homo sapiens. Thus the centromeric and telomeric motifs that typify A and B haplotypes have likely been present throughout human evolution. The results suggest the common ancestor of A and B haplotypes combined a B-like centromeric region with an A-like telomeric region.

  15. A comprehensive literature review of haplotyping software and methods for use with unrelated individuals

    Directory of Open Access Journals (Sweden)

    Salem Rany M

    2005-03-01

    Full Text Available Abstract Interest in the assignment and frequency analysis of haplotypes in samples of unrelated individuals has increased immeasurably as a result of the emphasis placed on haplotype analyses by, for example, the International HapMap Project and related initiatives. Although there are many available computer programs for haplotype analysis applicable to samples of unrelated individuals, many of these programs have limitations and/or very specific uses. In this paper, the key features of available haplotype analysis software for use with unrelated individuals, as well as pooled DNA samples from unrelated individuals, are summarised. Programs for haplotype analysis were identified through keyword searches on PUBMED and various internet search engines, a review of citations from retrieved papers and personal communications, up to June 2004. Priority was given to functioning computer programs, rather than theoretical models and methods. The available software was considered in light of a number of factors: the algorithm(s used, algorithm accuracy, assumptions, the accommodation of genotyping error, implementation of hypothesis testing, handling of missing data, software characteristics and web-based implementations. Review papers comparing specific methods and programs are also summarised. Forty-six haplotyping programs were identified and reviewed. The programs were divided into two groups: those designed for individual genotype data (a total of 43 programs and those designed for use with pooled DNA samples (a total of three programs. The accuracy of programs using various criteria are assessed and the programs are categorised and discussed in light of: algorithm and method, accuracy, assumptions, genotyping error, hypothesis testing, missing data, software characteristics and web implementation. Many available programs have limitations (eg some cannot accommodate missing data and/or are designed with specific tasks in mind (eg estimating

  16. GIS-assisted spatial analysis for urban regulatory detailed planning: designer's dimension in the Chinese code system

    Science.gov (United States)

    Yu, Yang; Zeng, Zheng

    2009-10-01

    By discussing the causes behind the high amendments ratio in the implementation of urban regulatory detailed plans in China despite its law-ensured status, the study aims to reconcile conflict between the legal authority of regulatory detailed planning and the insufficient scientific support in its decision-making and compilation by introducing into the process spatial analysis based on GIS technology and 3D modeling thus present a more scientific and flexible approach to regulatory detailed planning in China. The study first points out that the current compilation process of urban regulatory detailed plan in China employs mainly an empirical approach which renders it constantly subjected to amendments; the study then discusses the need and current utilization of GIS in the Chinese system and proposes the framework of a GIS-assisted 3D spatial analysis process from the designer's perspective which can be regarded as an alternating processes between the descriptive codes and physical design in the compilation of regulatory detailed planning. With a case study of the processes and results from the application of the framework, the paper concludes that the proposed framework can be an effective instrument which provides more rationality, flexibility and thus more efficiency to the compilation and decision-making process of urban regulatory detailed plan in China.

  17. Human projected area factors for detailed direct and diffuse solar radiation analysis

    DEFF Research Database (Denmark)

    Kubaha, K.; Fiala, D.; Toftum, Jørn

    2004-01-01

    Projected area factors for individual segments of the standing and sedentary human body were modelled for both direct and diffuse solar radiation using detailed 3D geometry and radiation models. The local projected area factors with respect to direct short-wave radiation are a function of the solar...

  18. A detailed cost analysis of in vitro fertilization and intracytoplasmic sperm injection treatment.

    NARCIS (Netherlands)

    Bouwmans, C.A.; Lintsen, A.M.E.; Eijkemans, M.J.; Habbema, J.D.F.; Braat, D.D.M.; Hakkaart, L.

    2008-01-01

    OBJECTIVE: To provide detailed information about costs of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) treatment stages and to estimate the cost per IVF and ICSI treatment cycle and ongoing pregnancy. DESIGN: Descriptive micro-costing study. SETTING: Four Dutch IVF

  19. Detailed budget analysis of HONO in central London reveals a missing daytime source

    Directory of Open Access Journals (Sweden)

    J. D. Lee

    2016-03-01

    Full Text Available Measurements of HONO were carried out at an urban background site near central London as part of the Clean air for London (ClearfLo project in summer 2012. Data were collected from 22 July to 18 August 2014, with peak values of up to 1.8 ppbV at night and non-zero values of between 0.2 and 0.6 ppbV seen during the day. A wide range of other gas phase, aerosol, radiation, and meteorological measurements were made concurrently at the same site, allowing a detailed analysis of the chemistry to be carried out. The peak HONO/NOx ratio of 0.04 is seen at  ∼  02:00 UTC, with the presence of a second, daytime, peak in HONO/NOx of similar magnitude to the night-time peak, suggesting a significant secondary daytime HONO source. A photostationary state calculation of HONO involving formation from the reaction of OH and NO and loss from photolysis, reaction with OH, and dry deposition shows a significant underestimation during the day, with calculated values being close to 0, compared to the measurement average of 0.4 ppbV at midday. The addition of further HONO sources from the literature, including dark conversion of NO2 on surfaces, direct emission, photolysis of ortho-substituted nitrophenols, the postulated formation from the reaction of HO2 ×  H2O with NO2, photolysis of adsorbed HNO3 on ground and aerosols, and HONO produced by photosensitized conversion of NO2 on the surface increases the daytime modelled HONO to 0.1 ppbV, still leaving a significant missing daytime source. The missing HONO is plotted against a series of parameters including NO2 and OH reactivity (used as a proxy for organic material, with little correlation seen. Much better correlation is observed with the product of these species with j(NO2, in particular NO2 and the product of NO2 with OH reactivity. This suggests the missing HONO source is in some way related to NO2 and also requires sunlight. Increasing the photosensitized surface conversion rate of NO2 by a

  20. Detailed Aerodynamic Analysis of a Shrouded Tail Rotor Using an Unstructured Mesh Flow Solver

    Science.gov (United States)

    Lee, Hee Dong; Kwon, Oh Joon

    The detailed aerodynamics of a shrouded tail rotor in hover has been numerically studied using a parallel inviscid flow solver on unstructured meshes. The numerical method is based on a cell-centered finite-volume discretization and an implicit Gauss-Seidel time integration. The calculation was made for a single blade by imposing a periodic boundary condition between adjacent rotor blades. The grid periodicity was also imposed at the periodic boundary planes to avoid numerical inaccuracy resulting from solution interpolation. The results were compared with available experimental data and those from a disk vortex theory for validation. It was found that realistic three-dimensional modeling is important for the prediction of detailed aerodynamics of shrouded rotors including the tip clearance gap flow.

  1. F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort

    Science.gov (United States)

    Schwarz, John; Astermark, Jan; Menius, Erika D.; Carrington, Mary; Donfield, Sharyne M.; Gomperts, Edward D.; Nelson, George W.; Oldenburg, Johannes; Pavlova, Anna; Shapiro, Amy D.; Winkler, Cheryl A.; Berntorp, Erik

    2012-01-01

    Background Ancestral background, specifically African descent, confers higher risk for development of inhibitory antibodies to factor VIII (FVIII) in hemophilia A. It has been suggested that differences in the distribution of factor VIII gene (F8) haplotypes, and mismatch between endogenous F8 haplotypes and those comprising products used for treatment could contribute to risk. Design and Methods Data from the HIGS Combined Cohort were used to determine the association between F8 haplotype 3 (H3) vs. haplotypes 1 and 2 (H1+H2) and inhibitor risk among individuals of genetically-determined African descent. Other variables known to affect inhibitor risk including type of F8 mutation and HLA were included in the analysis. A second research question regarding risk related to mismatch in endogenous F8 haplotype and recombinant FVIII products used for treatment was addressed. Results H3 was associated with higher inhibitor risk among those genetically-identified (N=49) as of African ancestry, but the association did not remain significant after adjustment for F8 mutation type and the HLA variables. Among subjects of all racial ancestries enrolled in HIGS who reported early use of recombinant products (N=223), mismatch in endogenous haplotype and the FVIII proteins constituting the products used did not confer greater risk for inhibitor development. Conclusion H3 was not an independent predictor of inhibitor risk. Further, our findings did not support a higher risk of inhibitors in the presence of a haplotype mismatch between the FVIII molecule infused and that of the individual. PMID:22958194

  2. Determination of connected components inthe analysis of homogeneous and detail zonesin color images

    Directory of Open Access Journals (Sweden)

    Cristina Pérez-Benito

    2018-02-01

    Full Text Available A model based on local graphs to classify pixels coming from at or detail regions of an image is presented. For each pixel a local graph is dened. Its structure will depend on the similarity between neighbouring pixels. Its features allow us to classify each image pixel as belonging to one type of region or the other. This classication is an essential pre-processing technique for many Computer Vision tools, such as smoothingor sharpening of digital color images.

  3. An Implementation and Detailed Analysis of the K-SVD Image Denoising Algorithm

    Directory of Open Access Journals (Sweden)

    Marc Lebrun

    2012-05-01

    Full Text Available K-SVD is a signal representation method which, from a set of signals, can derive a dictionary able to approximate each signal with a sparse combination of the atoms. This paper focuses on the K-SVD-based image denoising algorithm. The implementation is described in detail and its parameters are analyzed and varied to come up with a reliable implementation.

  4. A Meta-Analysis Detailing Overall Sexual Function and Orgasmic Function in Women Undergoing Midurethral Sling Surgery for Stress Incontinence

    Directory of Open Access Journals (Sweden)

    Nicole Szell, DO

    2017-06-01

    Szell N, Komisaruk B, Goldstein SW, et al. A Meta-Analysis Detailing Overall Sexual Function and Orgasmic Function in Women Undergoing Midurethral Sling Surgery for Stress Incontinence. Sex Med 2017;5:e84–e93.

  5. Remote sensing of selective logging in Amazonia Assessing limitations based on detailed field observations, Landsat ETM+, and textural analysis.

    Science.gov (United States)

    Gregory P. Asner; Michael Keller; Rodrigo Pereira; Johan C. Zweede

    2002-01-01

    We combined a detailed field study of forest canopy damage with calibrated Landsat 7 Enhanced Thematic Mapper Plus (ETM+) reflectance data and texture analysis to assess the sensitivity of basic broadband optical remote sensing to selective logging in Amazonia. Our field study encompassed measurements of ground damage and canopy gap fractions along a chronosequence of...

  6. AGB nucleosynthesis in the Large Magellanic Cloud. Detailed abundance analysis of the RV Tauri star MACHO 47.2496.8

    NARCIS (Netherlands)

    Reyniers, M.; Abia, C.; van Winckel, H.; Lloyd Evans, T.; Decin, L.K.E.; Eriksson, K.; Pollard, K.R.

    2007-01-01

    Context: .Abundance analysis of post-AGB objects as probes of AGB nucleosynthesis. Aims: .A detailed photospheric abundance study is performed on the carbon-rich post-AGB candidate MACHO 47.2496.8 in the LMC. Methods: .High-resolution, high signal-to-noise ESO VLT-UVES spectra of MACHO 47.2496.8 are

  7. [Construction of haplotype and haplotype block based on tag single nucleotide polymorphisms and their applications in association studies].

    Science.gov (United States)

    Gu, Ming-liang; Chu, Jia-you

    2007-12-01

    Human genome has structures of haplotype and haplotype block which provide valuable information on human evolutionary history and may lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to complex diseases. Haplotype block can be divided into discrete blocks of limited haplotype diversity. In each block, a small fraction of ptag SNPsq can be used to distinguish a large fraction of the haplotypes. These tag SNPs can be potentially useful for construction of haplotype and haplotype block, and association studies in complex diseases. There are two general classes of methods to construct haplotype and haplotype blocks based on genotypes on large pedigrees and statistical algorithms respectively. The author evaluate several construction methods to assess the power of different association tests with a variety of disease models and block-partitioning criteria. The advantages, limitations and applications of each method and the application in the association studies are discussed equitably. With the completion of the HapMap and development of statistical algorithms for addressing haplotype reconstruction, ideas of construction of haplotype based on combination of mathematics, physics, and computer science etc will have profound impacts on population genetics, location and cloning for susceptible genes in complex diseases, and related domain with life science etc.

  8. Detailed analysis for a control rod worth of the gas turbine high temperature reactor (GTHTR300)

    Energy Technology Data Exchange (ETDEWEB)

    Nakata, Tetsuo; Katanishi, Shoji; Takada, Shoji; Yan, Xing; Kunitomi, Kazuhiko [Japan Atomic Energy Research Inst., Oarai, Ibaraki (Japan). Oarai Research Establishment

    2002-11-01

    GTHTR300 is composed of a simplified and economical power plant based on an inherent safe 600 MWt reactor and a nearly 50% high efficiency gas turbine power conversion cycle. GTHTR300 core consist of annular fuel region, center and outer side reflectors because of cooling it effectively in depressurized accident conditions, and all control rods are located in both side reflectors of annular core. As a thermal neutron spectrum is strongly distorted in reflector regions, an accurate calculation is especially required for the control rod worth evaluation. In this study, we applied the detailed Monte Carlo calculations of a full core model, and confirmed that our design method has enough accuracy. (author)

  9. Dynamical twisted mass fermions with light quarks. Simulation and analysis details

    International Nuclear Information System (INIS)

    Boucaud, P.; Dimopoulos, P.; Farchioni, F.

    2008-03-01

    In a recent paper (2007) we presented precise lattice QCD results of our European Twisted Mass Collaboration (ETMC). They were obtained by employing two mass-degenerate flavours of twisted mass fermions at maximal twist. In the present paper we give details on our simulations and the computation of physical observables. In particular, we discuss the problem of tuning to maximal twist, the techniques we have used to compute correlators and error estimates. In addition, we provide more information on the algorithm used, the autocorrelation times and scale determination, the evaluation of disconnected contributions and the description of our data by means of chiral perturbation theory formulae. (orig.)

  10. Dynamical twisted mass fermions with light quarks. Simulation and analysis details

    Energy Technology Data Exchange (ETDEWEB)

    Boucaud, P. [Paris-11 Univ., 91 - Orsay (France). Lab. de Physique Theorique; Dimopoulos, P. [Rome-2 Univ. (Italy). Dipt. di Fisica; Farchioni, F. [Muenster Univ. (DE). Inst. fuer Theoretische Physik] (and others)

    2008-03-15

    In a recent paper (2007) we presented precise lattice QCD results of our European Twisted Mass Collaboration (ETMC). They were obtained by employing two mass-degenerate flavours of twisted mass fermions at maximal twist. In the present paper we give details on our simulations and the computation of physical observables. In particular, we discuss the problem of tuning to maximal twist, the techniques we have used to compute correlators and error estimates. In addition, we provide more information on the algorithm used, the autocorrelation times and scale determination, the evaluation of disconnected contributions and the description of our data by means of chiral perturbation theory formulae. (orig.)

  11. Author Details

    African Journals Online (AJOL)

    Petrology of the Cenomanian Upper Member of the Mamfe Embayment, southwestern Cameroon Details · Vol 38, No 1 (2002) - Articles Sequence stratigraphy of Iso field, western onshore Niger Delta, Nigeria Details · Vol 39, No 2 (2003) - Articles Preliminary studies on the lithostratigraphy and depositional environment of ...

  12. Author Details

    African Journals Online (AJOL)

    An Overview of Africa's Marine Resources: Their Utilization and Sustainable Management Details · Vol 12, No 3 (2000) - Articles EDITORIAL Ganoderma Lucidum - Paramount among Medicinal Mushrooms. Details · Vol 15, No 3 (2003) - Articles Editorial: Africa's Mushrooms: A neglected bioresource whose time has come

  13. Author Details

    African Journals Online (AJOL)

    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Abstract PDF · Vol 3, No 6 (2011) - Articles Mixed convection flow and heat transfer in a vertical wavy channel containing porous and fluid layer with traveling thermal waves. Abstract PDF · Vol 3, No 8 ...

  14. Author Details

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    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Singh, J. Vol 3, No 2 (2011) - Articles Plane waves in a rotating generalized thermo-elastic solid with voids. Abstract PDF. ISSN: 2141-2839. AJOL African Journals Online. HOW TO USE AJOL.

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    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Vol 12 (2008) - Articles On the wave equations of shallow water with rough bottom topography. Abstract · Vol 14 (2009) - Articles Energy generation in a plant due to variable sunlight intensity

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    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Iliopsoas haematoma in a rugby player. Abstract PDF · Vol 29, No 1 (2017) - Articles The use of negative pressure wave treatment in athlete recovery. Abstract PDF. ISSN: 2078-516X. AJOL African ...

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    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Ismail, A. Vol 9, No 3S (2017): Special Issue - Articles Investigate of wave absorption performance for oil palm frond and empty fruit bunch at 5.8 GHz. Abstract PDF · Vol 9, No 3S (2017): Special Issue ...

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    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... to blast loadings. Abstract PDF · Vol 9, No 3S (2017): Special Issue - Articles Experimental and numerical investigation on blast wave propagation in soil structure. Abstract PDF. ISSN: 1112-9867.

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    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... The use of negative pressure wave treatment in athlete recovery. Abstract PDF · Vol 29, No 1 (2017) - Articles The prevalence, risk factors predicting injury and the severity of injuries sustained during ...

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    Author Details. Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Vol 29, No 1 (2017) - Articles The use of negative pressure wave treatment in athlete recovery. Abstract PDF · Vol 29, No 1 (2017) - Articles The prevalence, risk factors predicting injury and the ...

  5. Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.

    Science.gov (United States)

    Yamaguchi-Kabata, Yumi; Tsunoda, Tatsuhiko; Kumasaka, Natsuhiko; Takahashi, Atsushi; Hosono, Naoya; Kubo, Michiaki; Nakamura, Yusuke; Kamatani, Naoyuki

    2012-05-01

    Although the Japanese population has a rather low genetic diversity, we recently confirmed the presence of two main clusters (the Hondo and Ryukyu clusters) through principal component analysis of genome-wide single-nucleotide polymorphism (SNP) genotypes. Understanding the genetic differences between the two main clusters requires further genome-wide analyses based on a dense SNP set and comparison of haplotype frequencies. In the present study, we determined haplotypes for the Hondo cluster of the Japanese population by detecting SNP homozygotes with 388,591 autosomal SNPs from 18,379 individuals and estimated the haplotype frequencies. Haplotypes for the Ryukyu cluster were inferred by a statistical approach using the genotype data from 504 individuals. We then compared the haplotype frequencies between the Hondo and Ryukyu clusters. In most genomic regions, the haplotype frequencies in the Hondo and Ryukyu clusters were very similar. However, in addition to the human leukocyte antigen region on chromosome 6, other genomic regions (chromosomes 3, 4, 5, 7, 10 and 12) showed dissimilarities in haplotype frequency. These regions were enriched for genes involved in the immune system, cell-cell adhesion and the intracellular signaling cascade. These differentiated genomic regions between the Hondo and Ryukyu clusters are of interest because they (1) should be examined carefully in association studies and (2) likely contain genes responsible for morphological or physiological differences between the two groups.

  6. Reliable reconstruction of HIV-1 whole genome haplotypes reveals clonal interference and genetic hitchhiking among immune escape variants

    Science.gov (United States)

    2014-01-01

    Background Following transmission, HIV-1 evolves into a diverse population, and next generation sequencing enables us to detect variants occurring at low frequencies. Studying viral evolution at the level of whole genomes was hitherto not possible because next generation sequencing delivers relatively short reads. Results We here provide a proof of principle that whole HIV-1 genomes can be reliably reconstructed from short reads, and use this to study the selection of immune escape mutations at the level of whole genome haplotypes. Using realistically simulated HIV-1 populations, we demonstrate that reconstruction of complete genome haplotypes is feasible with high fidelity. We do not reconstruct all genetically distinct genomes, but each reconstructed haplotype represents one or more of the quasispecies in the HIV-1 population. We then reconstruct 30 whole genome haplotypes from published short sequence reads sampled longitudinally from a single HIV-1 infected patient. We confirm the reliability of the reconstruction by validating our predicted haplotype genes with single genome amplification sequences, and by comparing haplotype frequencies with observed epitope escape frequencies. Conclusions Phylogenetic analysis shows that the HIV-1 population undergoes selection driven evolution, with successive replacement of the viral population by novel dominant strains. We demonstrate that immune escape mutants evolve in a dependent manner with various mutations hitchhiking along with others. As a consequence of this clonal interference, selection coefficients have to be estimated for complete haplotypes and not for individual immune escapes. PMID:24996694

  7. Mitochondrial control region haplotypes of the South American sea lion Otaria flavescens (Shaw, 1800).

    Science.gov (United States)

    Artico, L O; Bianchini, A; Grubel, K S; Monteiro, D S; Estima, S C; Oliveira, L R de; Bonatto, S L; Marins, L F

    2010-09-01

    The South American sea lion, Otaria flavescens, is widely distributed along the Pacific and Atlantic coasts of South America. However, along the Brazilian coast, there are only two nonbreeding sites for the species (Refúgio de Vida Silvestre da Ilha dos Lobos and Refúgio de Vida Silvestre do Molhe Leste da Barra do Rio Grande), both in Southern Brazil. In this region, the species is continuously under the effect of anthropic activities, mainly those related to environmental contamination with organic and inorganic chemicals and fishery interactions. This paper reports, for the first time, the genetic diversity of O. flavescens found along the Southern Brazilian coast. A 287-bp fragment of the mitochondrial DNA control region (D-loop) was analyzed. Seven novel haplotypes were found in 56 individuals (OFA1-OFA7), with OFA1 being the most frequent (47.54%). Nucleotide diversity was moderate (π = 0.62%) and haplotype diversity was relatively low (67%). Furthermore, the median joining network analysis indicated that Brazilian haplotypes formed a reciprocal monophyletic clade when compared to the haplotypes from the Peruvian population on the Pacific coast. These two populations do not share haplotypes and may have become isolated some time back. Further genetic studies covering the entire species distribution are necessary to better understand the biological implications of the results reported here for the management and conservation of South American sea lions.

  8. Mitochondrial control region haplotypes of the South American sea lion Otaria flavescens (Shaw, 1800

    Directory of Open Access Journals (Sweden)

    L.O. Artico

    2010-09-01

    Full Text Available The South American sea lion, Otaria flavescens, is widely distributed along the Pacific and Atlantic coasts of South America. However, along the Brazilian coast, there are only two nonbreeding sites for the species (Refúgio de Vida Silvestre da Ilha dos Lobos and Refúgio de Vida Silvestre do Molhe Leste da Barra do Rio Grande, both in Southern Brazil. In this region, the species is continuously under the effect of anthropic activities, mainly those related to environmental contamination with organic and inorganic chemicals and fishery interactions. This paper reports, for the first time, the genetic diversity of O. flavescens found along the Southern Brazilian coast. A 287-bp fragment of the mitochondrial DNA control region (D-loop was analyzed. Seven novel haplotypes were found in 56 individuals (OFA1-OFA7, with OFA1 being the most frequent (47.54%. Nucleotide diversity was moderate (π = 0.62% and haplotype diversity was relatively low (67%. Furthermore, the median joining network analysis indicated that Brazilian haplotypes formed a reciprocal monophyletic clade when compared to the haplotypes from the Peruvian population on the Pacific coast. These two populations do not share haplotypes and may have become isolated some time back. Further genetic studies covering the entire species distribution are necessary to better understand the biological implications of the results reported here for the management and conservation of South American sea lions.

  9. Light water reactor fuel analysis code FEMAXI-IV(Ver.2). Detailed structure and user`s manual

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Motoe [Japan Atomic Energy Research Inst., Tokai, Ibaraki (Japan). Tokai Research Establishment; Saitou, Hiroaki

    1997-11-01

    A light water reactor fuel behavior analysis code FEMAXI-IV(Ver.2) was developed as an improved version of FEMAXI-IV. Development of FEMAXI-IV has been already finished in 1992, though a detailed structure and input manual of the code have not been open to users yet. Here, the basic theories and structure, the models and numerical solutions applied to FEMAXI-IV(Ver.2), and the material properties adopted in the code are described in detail. In FEMAXI-IV(Ver.2), programming bugs in previous FEMAXI-IV were eliminated, renewal of the pellet thermal conductivity was performed, and a model of thermal-stress restraint on FP gas release was incorporated. For facilitation of effective and wide-ranging application of the code, methods of input/output of the code are also described in detail, and sample output is included. (author)

  10. Confirmatory analysis and detail design of the magnet system for mirror fusion test facility (MFTF)

    International Nuclear Information System (INIS)

    Tatro, R.E.; Baldi, R.W.

    1978-10-01

    This summary covers the six individual reports delivered to the LLL MFTF program staff. They are: (1) literature survey (helium heat transfer), (2) thermodynamic analysis, (3) structural analysis, (4) manufacturing/producibility study, (5) instrumentation plan and (6) quality assurance report

  11. CoMA, an experiment for the detailed in-situ analysis of collected cometary particulates

    International Nuclear Information System (INIS)

    Kissel, J.; Fechtig, H.; Jessberger, E.K.; Krueger, F.R.; Niemczyk, N.; Schaefer, G.; Zscheeg, H.

    1989-01-01

    After NASA accepted for the implementation phase (up to October 1990) our proposal for the CoMA investigation to be flown onboard CRAF to rendezvous with a comet, funding by the BMFT for instrument pre-development has been obtained. Most contracts could be let, some, however, with substantial delay due to administrative problems. Progress can be reported as the group in Bremen could demonstrate a mass resolution of 60 000 for a low magnetic field ICR-experiment, resolving 12 CH + and 13 C + ions. Also a first successful attempt was made to theoretically describe the dust collection efficiencies of different materials. As yet such a model did not exist - a fact that made the interpretation and extrapolation of laboratory data obsolete. The experimental setup in which the Indium liquid ion source is tested could be completed by the successful addition of a bunching structure. In future it will serve those partners that develop in detail the primary beam system. (orig.)

  12. New SUSYQM coherent states for Pöschl-Teller potentials: a detailed mathematical analysis

    Science.gov (United States)

    Bergeron, H.; Siegl, P.; Youssef, A.

    2012-06-01

    In a recent short note (Bergeron et al 2010 Europhys. Lett. 92 60003), we have presented the good properties of a new family of semi-classical states for Pöschl-Teller potentials. These states are built from a supersymmetric quantum mechanics (SUSYQM) approach and the parameters of these ‘coherent’ states are points in the classical phase space. In this paper, we develop all the mathematical aspects that have been left out of the previous paper (proof of the resolution of unity, detailed calculations of the quantized version of classical observables and mathematical study of the resulting operators: problems of domains, self-adjointness or self-adjoint extensions). Some additional questions such as asymptotic behavior are also studied. Moreover, the framework is extended to a larger class of Pöschl-Teller potentials. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical devoted to ‘Coherent states: mathematical and physical aspects’.

  13. Detailed analysis of coolant mixing in WWER-440 fuel assembly heads

    International Nuclear Information System (INIS)

    Toth, S.; Aszodi, A.

    2008-01-01

    Based on experiences of former validation and sensitivity studies, a CFD model for head part of real working fuel assemblies with pitch of 12.3 mm has been developed with the code ANSYS CFX. Calculations were performed for typical fuel assemblies used in the Paks NPP. Differences between the outlet average temperatures and thermocouple signals were determined. Effect of the mixing grid position on thermocouple signal was investigated also. Mixing was analyzed in details with using so-called mixing scalars and weight factors of the central tube and rod bundle regions for in-core thermocouple signal were determined. Sensitivity of the weight factors for pin power distribution and mixing grid position were investigated. (Authors)

  14. Haplotypes and Sequence Variation in the Ovine Adiponectin Gene (ADIPOQ

    Directory of Open Access Journals (Sweden)

    Qing-Ming An

    2015-11-01

    Full Text Available The adiponectin gene (ADIPOQ plays an important role in energy homeostasis. In this study five separate regions (regions 1 to 5 of ovine ADIPOQ were analysed using PCR-SSCP. Four different PCR-SSCP patterns (A1-D1, A2-D2 were detected in region-1 and region-2, respectively, with seven and six SNPs being revealed. In region-3, three different patterns (A3-C3 and three SNPs were observed. Two patterns (A4-B4, A5-B5 and two and one SNPs were observed in region-4 and region-5, respectively. In total, nineteen SNPs were detected, with five of them in the coding region and two (c.46T/C and c.515G/A putatively resulting in amino acid changes (p.Tyr16His and p.Lys172Arg. In region-1, -2 and -3 of 316 sheep from eight New Zealand breeds, variants A1, A2 and A3 were the most common, although variant frequencies differed in the eight breeds. Across region-1 and region-3, nine haplotypes were identified and haplotypes A1-A3, A1-C3, B1-A3 and B1-C3 were most common. These results indicate that the ADIPOQ gene is polymorphic and suggest that further analysis is required to see if the variation in the gene is associated with animal production traits.

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    Journal Home > Advanced Search > Author Details. Log in or Register ... (2013) - Articles Technical Note: Development of a Photobioreactor for Microalgae Culture ... Design, Construction and Evaluation of Motorized Okra Slicer Abstract PDF ...

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    Journal Home > Advanced Search > Author Details. Log in or Register to ... No 1 (2014) - Articles Knowledge and Attitudes towards Basic Cardiopulmonary Resuscitation (CPR) among Community Nurses in Remo Area of Ogun State, Nigeria

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    Journal Home > Advanced Search > Author Details. Log in or Register to get ... Optical bus of centralized relay protection and automation system of medium voltage switchgear for data collection and transmission. Abstract PDF. ISSN: 1112- ...

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    Journal Home > Advanced Search > Author Details. Log in or ... The prevention of mother-to-child HIV transmission programme and infant feeding practices ... Evaluation of a diagnostic algorithm for smear-negative pulmonary tuberculosis in ...

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    Journal Home > Advanced Search > Author Details ... Design and Implementation of an M/M/1 Queuing Model Algorithm and its Applicability in ... Vehicle Identification Technology to Intercept Small Arms and Ammunition on Nigeria Roads

  20. Distribution pattern of Plasmodium falciparum chloroquine transporter (pfcrt) gene haplotypes in Sri Lanka 1996-2006

    DEFF Research Database (Denmark)

    Zhang, Jenny J; Senaratne, Tharanga N; Daniels, Rachel

    2011-01-01

    Abstract. Widespread antimalarial resistance has been a barrier to malaria elimination efforts in Sri Lanka. Analysis of genetic markers in historic parasites may uncover trends in the spread of resistance. We examined the frequency of Plasmodium falciparum chloroquine transporter (pfcrt; codons 72......-76) haplotypes in Sri Lanka in 1996-1998 and 2004-2006 using a high-resolution melting assay. Among 59 samples from 1996 to 1998, we detected the SVMNT (86%), CVMNK (10%), and CVIET (2%) haplotypes, with a positive trend in SVMNT and a negative trend in CVMNK frequency (P = 0.004) over time. Among 24 samples...

  1. Genomic sequence of 'Candidatus Liberibacter solanacearum' haplotype C and its comparison with haplotype A and B genomes.

    Directory of Open Access Journals (Sweden)

    Jinhui Wang

    Full Text Available Haplotypes A and B of 'Candidatus Liberibacter solanacearum' (CLso are associated with diseases of solanaceous plants, especially Zebra chip disease of potato, and haplotypes C, D and E are associated with symptoms on apiaceous plants. To date, one complete genome of haplotype B and two high quality draft genomes of haplotype A have been obtained for these unculturable bacteria using metagenomics from the psyllid vector Bactericera cockerelli. Here, we present the first genomic sequences obtained for the carrot-associated CLso. These two genomic sequences of haplotype C, FIN114 (1.24 Mbp and FIN111 (1.20 Mbp, were obtained from carrot psyllids (Trioza apicalis harboring CLso. Genomic comparisons between the haplotypes A, B and C revealed that the genome organization differs between these haplotypes, due to large inversions and other recombinations. Comparison of protein-coding genes indicated that the core genome of CLso consists of 885 ortholog groups, with the pan-genome consisting of 1327 ortholog groups. Twenty-seven ortholog groups are unique to CLso haplotype C, whilst 11 ortholog groups shared by the haplotypes A and B, are not found in the haplotype C. Some of these ortholog groups that are not part of the core genome may encode functions related to interactions with the different host plant and psyllid species.

  2. An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphism.

    Science.gov (United States)

    Deng, Libin; Zhang, Yuezheng; Kang, Jian; Liu, Tao; Zhao, Hongbin; Gao, Yang; Li, Chaohua; Pan, Hao; Tang, Xiaoli; Wang, Dunmei; Niu, Tianhua; Yang, Huanming; Zeng, Changqing

    2008-10-01

    Chromosomal inversion is an important type of genomic variations involved in both evolution and disease pathogenesis. Here, we describe the refined genetic structure of a 3.8-Mb inversion polymorphism at chromosome 8p23. Using HapMap data of 1,073 SNPs generated from 209 unrelated samples from CEPH-Utah residents with ancestry from northern and western Europe (CEU); Yoruba in Ibadan, Nigeria (YRI); and Asian (ASN) samples, which were comprised of Han Chinese from Beijing, China (CHB) and Japanese from Tokyo, Japan (JPT)-we successfully deduced the inversion orientations of all their 418 haplotypes. In particular, distinct haplotype subgroups were identified based on principal component analysis (PCA). Such genetic substructures were consistent with clustering patterns based on neighbor-joining tree reconstruction, which revealed a total of four haplotype clades across all samples. Metaphase fluorescence in situ hybridization (FISH) in a subset of 10 HapMap samples verified their inversion orientations predicted by PCA or phylogenetic tree reconstruction. Positioning of the outgroup haplotype within one of YRI clades suggested that Human NCBI Build 36-inverted order is most likely the ancestral orientation. Furthermore, the population differentiation test and the relative extended haplotype homozygosity (REHH) analysis in this region discovered multiple selection signals, also in a population-specific manner. A positive selection signal was detected at XKR6 in the ASN population. These results revealed the correlation of inversion polymorphisms to population-specific genetic structures, and various selection patterns as possible mechanisms for the maintenance of a large chromosomal rearrangement at 8p23 region during evolution. In addition, our study also showed that haplotype-based clustering methods, such as PCA, can be applied in scanning for cryptic inversion polymorphisms at a genome-wide scale.

  3. CFD analysis of municipal solid waste combustion using detailed chemical kinetic modelling.

    Science.gov (United States)

    Frank, Alex; Castaldi, Marco J

    2014-08-01

    Nitrogen oxides (NO x ) emissions from the combustion of municipal solid waste (MSW) in waste-to-energy (WtE) facilities are receiving renewed attention to reduce their output further. While NO x emissions are currently 60% below allowed limits, further reductions will decrease the air pollution control (APC) system burden and reduce consumption of NH3. This work combines the incorporation of the GRI 3.0 mechanism as a detailed chemical kinetic model (DCKM) into a custom three-dimensional (3D) computational fluid dynamics (CFD) model fully to understand the NO x chemistry in the above-bed burnout zones. Specifically, thermal, prompt and fuel NO formation mechanisms were evaluated for the system and a parametric study was utilized to determine the effect of varying fuel nitrogen conversion intermediates between HCN, NH3 and NO directly. Simulation results indicate that the fuel nitrogen mechanism accounts for 92% of the total NO produced in the system with thermal and prompt mechanisms accounting for the remaining 8%. Results also show a 5% variation in final NO concentration between HCN and NH3 inlet conditions, demonstrating that the fuel nitrogen intermediate assumed is not significant. Furthermore, the conversion ratio of fuel nitrogen to NO was 0.33, revealing that the majority of fuel nitrogen forms N2. © The Author(s) 2014.

  4. A detailed cost analysis of in vitro fertilization and intracytoplasmic sperm injection treatment.

    Science.gov (United States)

    Bouwmans, Clazien A M; Lintsen, Bea M E; Eijkemans, Marinus J C; Habbema, J Dik F; Braat, Didi D M; Hakkaart, Leona

    2008-02-01

    To provide detailed information about costs of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) treatment stages and to estimate the cost per IVF and ICSI treatment cycle and ongoing pregnancy. Descriptive micro-costing study. Four Dutch IVF centers. Women undergoing their first treatment cycle with IVF or ICSI. IVF or ICSI. Costs per treatment stage, per cycle started, and for ongoing pregnancy. Average costs of IVF and ICSI hormonal stimulation were euro 1630 and euro 1585; the costs of oocyte retrieval were euro 500 and euro 725, respectively. The cost of embryo transfer was euro 185. Costs per IVF and ICSI cycle started were euro 2381 and euro 2578, respectively. Costs per ongoing pregnancy were euro 10,482 and euro 10,036, respectively. Hormonal stimulation covered the main part of the costs per cycle (on average 68% and 61% for IVF and ICSI, respectively) due to the relatively high cost of medication. The costs of medication increased with increasing age of the women, irrespective of the type of treatment (IVF or ICSI). Fertilization costs (IVF laboratory) constituted 12% and 20% of the total costs of IVF and ICSI. The total cost per ICSI cycle was 8.3% higher than IVF.

  5. Preliminary evaluation of crisis-relocation fallout-shelter options. Volume 2. Detailed analysis

    International Nuclear Information System (INIS)

    Santini, D.J.; Clinch, J.M.; Davis, F.H.; Hill, L.G.; Lynch, E.P.; Tanzman, E.A.; Wernette, D.R.

    1982-12-01

    This report presents a preliminary, detailed evaluation of various shelter options for use if the President orders crisis relocation of the US urban population because of strong expectation of a nuclear war. The availability of livable shelter space at 40 ft 2 per person (congregate-care space) by state is evaluated. Options are evaluated for construction of fallout shelters allowing 10 ft 2 per person - such shelters are designed to provide 100% survival at projected levels of radioactive fallout. The FEMA concept of upgrading existing buildings to act as fallout shelters can, in principle, provide adequate shelter throughout most of the US. Exceptions are noted and remedies proposed. In terms of upgrading existing buildings to fallout shelter status, great benefits are possible by turning away from a standard national approach and adopting a more site-specific approach. Existing FEMA research provides a solid foundation for successful crisis relocation planning, but the program can be refined by making suitable modifications in its locational, engineering, and institutionally specific elements

  6. Detailed seismotectonic analysis of Sumatra subduction zone revealed by high precision earthquake location

    Science.gov (United States)

    Sagala, Ricardo Alfencius; Harjadi, P. J. Prih; Heryandoko, Nova; Sianipar, Dimas

    2017-07-01

    Sumatra was one of the most high seismicity regions in Indonesia. The subduction of Indo-Australian plate beneath Eurasian plate in western Sumatra contributes for many significant earthquakes that occur in this area. These earthquake events can be used to analyze the seismotectonic of Sumatra subduction zone and its system. In this study we use teleseismic double-difference method to obtain more high precision earthquake distribution in Sumatra subduction zone. We use a 3D nested regional-global velocity model. We use a combination of data from both of ISC (International Seismological Center) and BMKG (Agency for Meteorology Climatology and Geophysics, Indonesia). We successfully relocate about 6886 earthquakes that occur on period of 1981-2015. We consider that this new location is more precise than the regular bulletin. The relocation results show greatly reduced of RMS residual of travel time. Using this data, we can construct a new seismotectonic map of Sumatra. A well-built geometry of subduction slab, faults and volcano arc can be obtained from the new bulletin. It is also showed that at a depth of 140-170 km, there is many events occur as moderate-to-deep earthquakes, and we consider about the relation of the slab's events with volcanic arc and inland fault system. A reliable slab model is also built from regression equation using new relocated data. We also analyze the spatial-temporal of seismotectonic using b-value mapping that inspected in detail horizontally and vertically cross-section.

  7. Preliminary evaluation of crisis-relocation fallout-shelter options. Volume 2. Detailed analysis

    Energy Technology Data Exchange (ETDEWEB)

    Santini, D.J.; Clinch, J.M.; Davis, F.H.; Hill, L.G.; Lynch, E.P.; Tanzman, E.A.; Wernette, D.R.

    1982-12-01

    This report presents a preliminary, detailed evaluation of various shelter options for use if the President orders crisis relocation of the US urban population because of strong expectation of a nuclear war. The availability of livable shelter space at 40 ft/sup 2/ per person (congregate-care space) by state is evaluated. Options are evaluated for construction of fallout shelters allowing 10 ft/sup 2/ per person - such shelters are designed to provide 100% survival at projected levels of radioactive fallout. The FEMA concept of upgrading existing buildings to act as fallout shelters can, in principle, provide adequate shelter throughout most of the US. Exceptions are noted and remedies proposed. In terms of upgrading existing buildings to fallout shelter status, great benefits are possible by turning away from a standard national approach and adopting a more site-specific approach. Existing FEMA research provides a solid foundation for successful crisis relocation planning, but the program can be refined by making suitable modifications in its locational, engineering, and institutionally specific elements.

  8. New SUSYQM coherent states for Pöschl–Teller potentials: a detailed mathematical analysis

    International Nuclear Information System (INIS)

    Bergeron, H; Siegl, P; Youssef, A

    2012-01-01

    In a recent short note (Bergeron et al 2010 Europhys. Lett. 92 60003), we have presented the good properties of a new family of semi-classical states for Pöschl–Teller potentials. These states are built from a supersymmetric quantum mechanics (SUSYQM) approach and the parameters of these ‘coherent’ states are points in the classical phase space. In this paper, we develop all the mathematical aspects that have been left out of the previous paper (proof of the resolution of unity, detailed calculations of the quantized version of classical observables and mathematical study of the resulting operators: problems of domains, self-adjointness or self-adjoint extensions). Some additional questions such as asymptotic behavior are also studied. Moreover, the framework is extended to a larger class of Pöschl–Teller potentials. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical devoted to ‘Coherent states: mathematical and physical aspects’. (paper)

  9. A detailed analysis of adhesion mechanics between a compliant elastic coating and a spherical probe

    International Nuclear Information System (INIS)

    Sridhar, I; Zheng, Z W; Johnson, K L

    2004-01-01

    As length scales decrease, adhesive forces become increasingly important. These adhesive forces contribute to the normal load in experiments conducted on thin layered systems using micro-probe instruments such as the surface force apparatus (SFA) and the atomic force microscope (AFM). Adhesion between these thin-layer systems was analysed by Sridhar et al (1997 J. Phys. D: Appl. Phys. 30 1710) for the SFA geometry and Johnson and Sridhar (2001 J. Phys. D: Appl. Phys. 34 683) for AFM using a numerical SJF (Sridhar-Johnson-Fleck) version of the JKR (Johnson-Kendal-Roberts) theory. In this paper, adhesion mechanics between a compliant elastic coating and a spherical probe is investigated using the SJF model in detail. When the substrate is rigid, the non-dimensional pull-off force may differ from the JKR value of -0.5 by as much as 90%. Computations of the contact size at zero load and pull-off force are presented for a range of values of adhesion energy. Finally, empirical relations for the contact load and contact compliance as a function of contact radius were obtained from the numerical data for practical layer-substrate material systems

  10. Detailed analysis of the resonant backscattering spectrum for deeply penetrating protons in carbon

    International Nuclear Information System (INIS)

    Tosaki, Mitsuo; Ito, Shin; Maeda, Nobuhiro

    2000-01-01

    In order to study the spectral response in Rutherford backscattering spectroscopy (RBS) for deeply penetrating ions in matter, the resonant backscattering spectra for 5.05-, 5.5- and 6.0-MeV proton incidence on solid carbon material have been measured at a scattering angle of 179.2 deg. (in lab.). Prominent peaks resulting from the sharp 4.8-MeV resonance in 12 C(p,p) 12 C nuclear elastic scattering are observed, even for a penetration depth of 79 μm. Detailed numerical calculations based on an algorithm of straightforward step-by-step evaluation have been made to simulate the observed spectra. The algorithm enables one to rigorously treat both the effect of sharp resonance structure and that of energy-dependent energy loss. Calculations with the SIMNRA code are also made. Through comparison of these calculations with the measured results, some conclusions on the two effects above are presented. In addition, it is demonstrated that the peak profile due to a sharp resonance is very sensitive to the degree of energy straggling

  11. Detailed analysis of polybrominated biphenyl congeners in bird eggs from Norway

    International Nuclear Information System (INIS)

    Vetter, Walter; Recke, Roland von der; Herzke, Dorte; Nygard, Torgeir

    2008-01-01

    Individual eggs of six species of birds from Norway representing different food chains were analysed for residues of polybrominated biphenyls (PBBs). In all species, the residue pattern was dominated by hexaBBs. The dominating congeners were PBB 153, PBB 154, and PBB 155. Whereas PBB 153 is present in technical hexabromobiphenyl, PBB 154 and PBB 155 are formed by the reductive debromination of decabromobiphenyl. This was evidenced by the detection of several heptaBBs and octaBBs all of which are typical degradation intermediates of PBB 209. Hepta- and octaBBs were more than one order of magnitude less abundant than the hexaBBs. The second most prevailing homologue group was pentaBBs. The most relevant pentabrominated isomers were PBB 99 and PBB 101. Concentrations of the three hexaBBs - PBB 153, PBB 154, and PBB 155 - amounted to 1.3-13 ng/g wet weight or 3-23% of the contamination with polybrominated diphenyl ethers. - We provide for the first time detailed information on the PBB congeners present in eggs of bird of prey, and quantified three hexabromo congeners

  12. Detailed analysis of the blade root flow of a horizontal axis wind turbine

    Directory of Open Access Journals (Sweden)

    I. Herráez

    2016-07-01

    Full Text Available The root flow of wind turbine blades is subjected to complex physical mechanisms that influence significantly the rotor aerodynamic performance. Spanwise flows, the Himmelskamp effect, and the formation of the root vortex are examples of interrelated aerodynamic phenomena that take place in the blade root region. In this study we address those phenomena by means of particle image velocimetry (PIV measurements and Reynolds-averaged Navier–Stokes (RANS simulations. The numerical results obtained in this study are in very good agreement with the experiments and unveil the details of the intricate root flow. The Himmelskamp effect is shown to delay the stall onset and to enhance the lift force coefficient Cl even at moderate angles of attack. This improvement in the aerodynamic performance occurs in spite of the negative influence of the mentioned effect on the suction peak of the involved blade sections. The results also show that the vortex emanating from the spanwise position of maximum chord length rotates in the opposite direction to the root vortex, which affects the wake evolution. Furthermore, the aerodynamic losses in the root region are demonstrated to take place much more gradually than at the tip.

  13. Análise dos haplótipos do gene da betaS-globina no Ceará Analysis of betaS-globin gene haplotypes in Ceará, Brazil

    Directory of Open Access Journals (Sweden)

    Gentil Claudino de Galiza Neto

    2005-10-01

    Full Text Available No presente trabalho abordam-se vários aspectos relacionados à natureza molecular da anemia falciforme (AF, desordem hematológica de caráter hereditário. A descoberta do polimorfismo do DNA no grupamento do gene betaS, originando diferentes haplótipos da doença, permitiu ampliar o conhecimento em torno da heterogeneidade clínica observada nos pacientes falcêmicos nas mais diversas regiões do mundo. Analisaram-se os diferentes haplótipos e seus parâmetros hematológicos, presentes em um grupo de 22 pacientes naturais e procedentes do estado do Ceará. A distribuição das freqüências dos haplótipos encontrados foi de 55,9% para Benin; 41,2% para República Centro-Africana (CAR; e de 2,9% para o haplótipo Senegal. Esses dados, em comparação com os demais estudos realizados no Brasil, mostram associação entre os seus valores para um alfa de 5% (p The present work deals with numerous aspects related to the molecular nature of sickle cell anemia. The discovery of the DNA polymorphism in the betas-globin gene cluster, gave origin to different haplotypes of the disease, making possible to enlarge the knowledge about the clinical heterogenity observed on the patients with sickle cell disease, in the various regions of the world. The different haplotypes and its hematological parameters were analysed in a group of 22 patients born in the State of Ceará, northeast of Brazil. The distribution found in the haplotypes frequency was of 55.9% for the Benin, of 41.2% for the CAR, and of 2.9% for Senegal haplotype. The data, compared to the others works done in Brazil, show relations among their values to alpha of 5% (p < 0,05. The results make possible a full understanding of the pathophisiology of the illness and of its clinical complexity in our State, as well as it allows a better knowledge of the sickle cell disease in our country.

  14. Application of Detailed Phase Comparison Protection Models for the Analysis of its Operation in Networks with Facts Devices

    Directory of Open Access Journals (Sweden)

    Ruban Nikolay Yu.

    2015-01-01

    Full Text Available The problem of relay protection misoperations in networks with FACTS devices is considered in the paper. It is offered a solution to this problem for a phase comparison protection of transmission power line through the use of its detailed model for the analysis of the functioning for a case of various normal, emergency and post-emergency modes of electric power systems. The research results of this approach are given in the paper.

  15. Data Analysis Details (DS): SE40_DS1 [Metabolonote[Archive

    Lifescience Database Archive (English)

    Full Text Available tware without cut off value and peaks are extracted from the text files by PowerFT ...SE40_DS1 PowerGet analysis for detection of all peaks Raw data files are converted to text file by MSGet sof

  16. Data Analysis Details (DS): SE41_DS1 [Metabolonote[Archive

    Lifescience Database Archive (English)

    Full Text Available tware without cut off value and peaks are extracted from the text files by PowerFT ...SE41_DS1 PowerGet analysis for detection of all peaks Raw data files are converted to text file by MSGet sof

  17. Non-destructive digital imaging in poplar allows detailed analysis of adventitious rooting dynamics

    Science.gov (United States)

    R.J. Kodrzycki; R.B. Michaels; A.L. Friend; R.S. Zalesny; Ch.P. Mawata; D.W. McDonald

    2008-01-01

    The dynamics of root formation are difficult to observe directly over time without disturbing the rooting environment. A novel system for a non-destructive, non-invasive root analysis (RootViz FS, Phenotype Screening Corp.) was evaluated for its ability to analyze root formation from cuttings over a 32 day period in three poplar genotypes (DN70, P. Deltoides x...

  18. Detailed Analysis of Solar Data Related to Historical Extreme Geomagnetic Storms: 1868 – 2010

    DEFF Research Database (Denmark)

    Lefèvre, Laure; Vennerstrøm, Susanne; Dumbović, Mateja

    2016-01-01

    An analysis of historical Sun–Earth connection events in the context of the most extreme space weather events of the last ∼ 150 years is presented. To identify the key factors leading to these extreme events, a sample of the most important geomagnetic storms was selected based mainly on the well-...

  19. Tuberculosis in Sulaimaniyah, Iraqi Kurdistan: A Detailed Analysis of Cases Registered in Treatment Centers.

    Science.gov (United States)

    Karadakhy, Kamaran; Othman, Nasih; Ibrahimm, Faredun; Saeed, Akam Ali; Amin, Ari Abdul-Adheem Hama

    2016-01-01

    Tuberculosis (TB) remains a major public health problem especially in low and middle-income countries. The current study was undertaken to estimate the incidence of the disease and describe its epidemiological characteristics in Iraqi Kurdistan. A retrospective study was carried out on cases registered in the directly observed treatment-short course (DOTS) centers in Sulaimaniyah province. Information was collected from the summary reports of all cases registered in 2010 and detailed information was obtained from 307 cases in the main center. During 2010, a total of 530 new and relapsed cases were registered in the DOTS centers amounting to an annual incidence of 31 per 100,000. Over 73% of cases were pulmonary TB and 45% of all cases had positive smear. Most common symptoms were cough (58%), sweating (49%) and fever (48). Almost 43% of patients were diagnosed by direct swab examination, 30% by biopsy and 23% through clinical and radiologic examination. In relation to outcome, 89% of patients were treated successfully, 7% died and 3% defaulted. Mortality rate was 8% in pulmonary infection and 4% in extrapulmonary infection. Old age (65 years and over) was significantly associated with higher odds of death compared to people aged 34 years and younger (OR 6.7, 95% CI 1.3-36.1, P=0.03). The incidence of TB is still high in the Iraqi Kurdistan. The DOTS has been successful in treating the majority of cases but there are areas needing improvement especially record-keeping and patient follow-up during and after treatment.

  20. Protein secondary structure assignment revisited: a detailed analysis of different assignment methods

    Directory of Open Access Journals (Sweden)

    de Brevern Alexandre G

    2005-09-01

    Full Text Available Abstract Background A number of methods are now available to perform automatic assignment of periodic secondary structures from atomic coordinates, based on different characteristics of the secondary structures. In general these methods exhibit a broad consensus as to the location of most helix and strand core segments in protein structures. However the termini of the segments are often ill-defined and it is difficult to decide unambiguously which residues at the edge of the segments have to be included. In addition, there is a "twilight zone" where secondary structure segments depart significantly from the idealized models of Pauling and Corey. For these segments, one has to decide whether the observed structural variations are merely distorsions or whether they constitute a break in the secondary structure. Methods To address these problems, we have developed a method for secondary structure assignment, called KAKSI. Assignments made by KAKSI are compared with assignments given by DSSP, STRIDE, XTLSSTR, PSEA and SECSTR, as well as secondary structures found in PDB files, on 4 datasets (X-ray structures with different resolution range, NMR structures. Results A detailed comparison of KAKSI assignments with those of STRIDE and PSEA reveals that KAKSI assigns slightly longer helices and strands than STRIDE in case of one-to-one correspondence between the segments. However, KAKSI tends also to favor the assignment of several short helices when STRIDE and PSEA assign longer, kinked, helices. Helices assigned by KAKSI have geometrical characteristics close to those described in the PDB. They are more linear than helices assigned by other methods. The same tendency to split long segments is observed for strands, although less systematically. We present a number of cases of secondary structure assignments that illustrate this behavior. Conclusion Our method provides valuable assignments which favor the regularity of secondary structure segments.

  1. Different origin and dispersal of sulfadoxine-resistant Plasmodium falciparum haplotypes between Eastern Africa and Democratic Republic of Congo

    DEFF Research Database (Denmark)

    Baraka, Vito; Delgado-Ratto, Christopher; Nag, Sidsel

    2017-01-01

    Sulfadoxine/pyrimethamine (SP) is still used for malaria control in sub-Saharan Africa; however, widespread resistance is a major concern. This study aimed to determine the dispersal and origin of sulfadoxine resistance lineages in the Democratic Republic of the Congo compared with East African.......3 and 7.7 kb) flanking the Pfdhps gene were assayed. Evolutionary analysis revealed a shared origin of Pfdhps haplotypes in East Africa, with a distinct population clustering in DR Congo. Furthermore, in Tanzania there was an independent distinct origin of Pfdhps SGEGA resistant haplotype. In Uganda...... and Tanzania, gene flow patterns contribute to the dispersal and shared origin of parasites carrying double- and triple-mutant Pfdhps haplotypes associated with poor outcomes of intermittent preventive treatment during pregnancy using SP (IPTp-SP). However, the origins of the Pfdhps haplotypes in DR Congo...

  2. Detailed Analysis of Japanese Population Substructure with a Focus on the Southwest Islands of Japan

    Science.gov (United States)

    Nishiyama, Takeshi; Kishino, Hirohisa; Suzuki, Sadao; Ando, Ryosuke; Niimura, Hideshi; Uemura, Hirokazu; Horita, Mikako; Ohnaka, Keizo; Kuriyama, Nagato; Mikami, Haruo; Takashima, Naoyuki; Mastuo, Keitaro; Guang, Yin; Wakai, Kenji; Hamajima, Nobuyuki; Tanaka, Hideo

    2012-01-01

    Uncovering population structure is important for properly conducting association studies and for examining the demographic history of a population. Here, we examined the Japanese population substructure using data from the Japan Multi-Institutional Collaborative Cohort (J-MICC), which covers all but the northern region of Japan. Using 222 autosomal loci from 4502 subjects, we investigated population substructure by estimating FST among populations, testing population differentiation, and performing principal component analysis (PCA) and correspondence analysis (CA). All analyses revealed a low but significant differentiation between the Amami Islanders and the mainland Japanese population. Furthermore, we examined the genetic differentiation between the mainland population, Amami Islanders and Okinawa Islanders using six loci included in both the Pan-Asian SNP (PASNP) consortium data and the J-MICC data. This analysis revealed that the Amami and Okinawa Islanders were differentiated from the mainland population. In conclusion, we revealed a low but significant level of genetic differentiation between the mainland population and populations in or to the south of the Amami Islands, although genetic variation between both populations might be clinal. Therefore, the possibility of population stratification must be considered when enrolling the islander population of this area, such as in the J-MICC study. PMID:22509376

  3. Detailed analysis of allergic cutaneous reactions to spinal cord stimulator devices

    Directory of Open Access Journals (Sweden)

    Chaudhry ZA

    2013-08-01

    Full Text Available Zeshan Ahmed Chaudhry,1 Umer Najib,2 Zahid H Bajwa,3 W Carl Jacobs,4 Javed Sheikh,5 Thomas T Simopoulos61Department of Diagnostic and Interventional Neuroradiology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA; 2Department of Neurology, Robert C Byrd Health Sciences Center of West Virginia University, Morgantown, WV, USA; 3Boston Headache Institute, Waltham, MA, USA; 4Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA; 5Department of Medicine, Allergy and Immunology, 6Department of Anesthesia, Beth Israel Deaconess Medical Center, Brookline, MA, USAAbstract: The use of spinal cord stimulation (SCS devices to treat chronic, refractory neuropathic pain continues to expand in application. While device-related complications have been well described, inflammatory reactions to the components of these devices remain underreported. In contrast, hypersensitivity reactions associated with other implanted therapies, such as endovascular and cardiac rhythm devices, have been detailed. The purpose of this case series is to describe the clinical presentation and course of inflammatory reactions as well as the histology of these reactions. All patients required removal of the entire device after developing inflammatory reactions over a time course of 1–3 months. Two patients developed a foreign body reaction in the lead insertion wound as well as at the implantable pulse generator site, with histology positive for giant cells. One patient developed an inflammatory dermatitis on the flank and abdomen that resolved with topical hydrocortisone. “In vivo” testing with a lead extension fragment placed in the buttock resulted in a negative reaction followed by successful reimplantation of an SCS device. Inflammatory reactions to SCS devices can manifest as contact dermatitis, granuloma formation, or foreign body reactions with giant cell formation. Tissue diagnosis is essential, and

  4. Detailed analysis of putative genes encoding small proteins in legume genomes

    Directory of Open Access Journals (Sweden)

    Gabriel eGuillén

    2013-06-01

    Full Text Available Diverse plant genome sequencing projects coupled with powerful bioinformatics tools have facilitated massive data analysis to construct specialized databases classified according to cellular function. However, there are still a considerable number of genes encoding proteins whose function has not yet been characterized. Included in this category are small proteins (SPs, 30-150 amino acids encoded by short open reading frames (sORFs. SPs play important roles in plant physiology, growth, and development. Unfortunately, protocols focused on the genome-wide identification and characterization of sORFs are scarce or remain poorly implemented. As a result, these genes are underrepresented in many genome annotations. In this work, we exploited publicly available genome sequences of Phaseolus vulgaris, Medicago truncatula, Glycine max and Lotus japonicus to analyze the abundance of annotated SPs in plant legumes. Our strategy to uncover bona fide sORFs at the genome level was centered in bioinformatics analysis of characteristics such as evidence of expression (transcription, presence of known protein regions or domains, and identification of orthologous genes in the genomes explored. We collected 6170, 10461, 30521, and 23599 putative sORFs from P. vulgaris, G. max, M. truncatula, and L. japonicus genomes, respectively. Expressed sequence tags (ESTs available in the DFCI Gene Index database provided evidence that ~one-third of the predicted legume sORFs are expressed. Most potential SPs have a counterpart in a different plant species and counterpart regions or domains in larger proteins. Potential functional sORFs were also classified according to a reduced set of GO categories, and the expression of 13 of them during P. vulgaris nodule ontogeny was confirmed by qPCR. This analysis provides a collection of sORFs that potentially encode for meaningful SPs, and offers the possibility of their further functional evaluation.

  5. Author Details

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    Njubi, Francis. Vol 15, No 1 (2001): Media Freedom and Human Rights - Articles New Media, Old Struggles: Pan Africanism, Anti-racism and Information Technology Details. ISSN: 0256-004. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Radwan M.D, Mona Ahmed. Vol 12, No 1 (2000) - Articles RELAPSING REMITTING MULTIPLE SCLEROSIS: CT AND MRI IMAGING VS CLINICAL FINDINGIN THE DIAGNOSIS AND DETERMINATION OF DISEASE ACTIVITY. Details. ISSN: 1110-5607. AJOL African Journals Online. HOW TO USE AJOL... for Researchers ...

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    Comarof, Jean. Vol 1999, No 3-4 (1999) - Articles Alien-Nation: Zombies, Immigrants and Millennial Capitalism Details. ISSN: 0850-8712. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact ...

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    NENTY, N. JOHNSON. Vol 7, No 3 (2001) - Articles Common errors and perfomance of students in junior secondary mathematics certificate examinations in Cross River State, Nigeria Details PDF. ISSN: 1118-0579. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's ...

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    A Preliminary Investigation of Relative Frequency of Undiagnosed and Previously Diagnosed Hypertension Before First Stroke in a Lagos Hospital Abstract · Vol 9, No 4 (1999) - Articles Localised tetanus in Lagos, Nigeria Details · Vol 9, No 4 (1999) - Articles Stroke with localised infarction of Wernicke's Area misdiagnosed ...

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    SAMA, G. Vol 2 (2002): Supplement - Articles A Longitudinal Study of the Role of T Cell subset, Th1/Th2 cytokines and antiplasmodial antibodies in uncomplicated Malaria in a Village Population Chronically Exposed to Plasmodium falciparum Malaria. Details PDF · AJOL African Journals Online. HOW TO USE AJOL.

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    QUAKYI, A.I.. Vol 2 (2002): Supplement - Articles A Longitudinal Study of the Role of T Cell subset, Th1/Th2 cytokines and antiplasmodial antibodies in uncomplicated Malaria in a Village Population Chronically Exposed to Plasmodium falciparum Malaria. Details PDF · AJOL African Journals Online. HOW TO USE AJOL.

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    KOUONTCHOU, Samuel. Vol 2 (2002): Supplement - Articles Prevalence of Multiple Concomitant Intestinal Parasitic Infections in Simbok a Malaria Endemic Village in Cameroon. Details PDF · Vol 2 (2002): Supplement - Articles A Longitudinal Study of the Role of T Cell subset, Th1/Th2 cytokines and antiplasmodial ...

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    ALAKE, J. Vol 2 (2002): Supplement - Articles A Longitudinal Study of the Role of T Cell subset, Th1/Th2 cytokines and antiplasmodial antibodies in uncomplicated Malaria in a Village Population Chronically Exposed to Plasmodium falciparum Malaria. Details PDF · AJOL African Journals Online. HOW TO USE AJOL.

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    Rakotonirina, Alice. Vol 2, No 2 (2002) - Articles Effect of the decoction of rhizomes of Cyperus articulatus on bicuculline-, N-methyl-D-aspartate- and strychnine-induced behavioural excitation and convulsions in mice. Details PDF · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians ...

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    Love, Alison. Vol 29, No 2 (2002) - Articles Policy-makers, the Press and Politics: Reporting a Public Policy Document Details. ISSN: 0379-0622. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

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    Focho, DA. Vol 2, No 1 (2002) - Articles Observations on the Meiotic Process in the African Pest Grasshopper Taphronota thaelephora Stal. (Orthoptera : Pyrgomorphidae) Details PDF · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Idowu, OO. Vol 8, No 1 (2003) - Articles Evaluation of Different Substrates and Combinations on the Growth of Pleurotus pulmonarius (Fries) Quelet (Sajor-caju) Details. ISSN: 1118-2733. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Ligthelm, A.A.. Vol 5, No 2 (2001) - Articles Community attitudes towards Casinos and the estimated magnitude of problem gambling The Mpumalanga case. Details PDF. ISSN: 1027-4332. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Kioni, P N. Vol 9, No 1 (2007) - Articles Detailed structure of pipe flow with water hammer oscillations. Abstract. ISSN: 1561-7645. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL ...

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    Development of a trap to contaminate variegated grasshoppers (Zonocerus variegatus L.) (Orthoptera: Pyrgomorphidae) with Metarrhyzium flavo-viride Gams & Rozsypal in the field. Details · Vol 40, No 1 (2007) - Articles Yam pests in the Ashanti and Brong Ahafo regions of Ghana: A study of farmers\\' indigenous technical ...

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    Brown, Duncan. Vol 16, No 2 (2002): Continental Africans & the Question of Identity - Articles Environment and Identity: Douglas Livingstone's A Littoral Zone Details. ISSN: 0256-004. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Aderinokun, GA. Vol 9, No 1 (1999) - Articles Relative Influence Of Sociodemographic Variables On Oral Health And Habits Of Some Nigerian School Children Abstract · Vol 9, No 4 (1999) - Articles Oral health services in Nigeria Details. ISSN: 0189-2657. AJOL African Journals Online. HOW TO USE AJOL.

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    EKPA, O. D.. Vol 7, No 2 (2001) - Articles Variental differences AND polymorphism in palm oil: a case study of palm oils blended with coconut oil. Details PDF. ISSN: 1118-0579. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    SONUGA, F A. Vol 6, No 1 (2000) - Articles Geophysical investigation of Karkarku earthdam embankment. Details. ISSN: 1118-0579. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL ...

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    Geotechnical properties of lateritic soil developed over quartz schist in Ishara area, south western Nigeria Details · Vol 44, No 1 (2008) - Articles Comparative study of the influence of cement and lime stabilization on geotechnical properties of lateritic soil derived from pegmatite in Ago-Iwoye area, southwestern Nigeria

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    McCarthy, Greg. Vol 15, No 1 (2001): Media Freedom and Human Rights - Articles Caught between Empires: Ambivalence in Australian Films Details. ISSN: 0256-004. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and ...

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    Legwaila, GM. Vol 12 (2003) - Articles Review of sweet sorghum: a potential cash and forage crop in Botswana Details. ISSN: 1021-0873. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact ...

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    Admasu, Assefa. Vol 22, No 2 (1999) - Articles Preliminary evaluation of Phytomyza orobanchia (Diptera: Agromyzidae) as a controller of Orobanche spp in Ethiopia Details PDF. ISSN: 2520–7997. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL ...

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    Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Obtaining the green's function for electromagnetic waves propagating in layered in-homogeneous thin film media of spherical particles on a substrate. Abstract · Vol 20, No 2 (2008) - Articles solution growth and ...

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    Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text ... Abstract · Vol 17 (2010) - Articles Investigating The Travelling Wave Solution For an SIR Endemic Disease Model With No Disease Related Death (When The Spatial Spread Of The Susceptible Is Not Negligible). Abstract.

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    Journal Home > Advanced Search > Author Details. Log in or Register to get access to full text downloads. ... Vol 8 (2004) - Articles Further on stokes expansions for the finite amplitude water waves. Abstract · Vol 11 (2007) - Articles On the effects of wave steepness on higher order Stokes waves. Abstract. ISSN: 1116-4336.

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    Akum, ZE. Vol 1, No 3 (2001) - Articles Basic home range characteristics for the conservation of the African grey parrot in the Korup national park, Cameroon Details PDF · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms ...

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    Bobcokono, Irene Yatabene. Vol 1, No 1 (2001) - Articles Utilisation du papier filtre dans la gestion de programme de lute contre le SIDA au Cameroun Details PDF · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and ...

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    Lema, VM. Vol 80, No 9 (2003): - Articles Fournier's gangrene complicating vasectomy. Details PDF · Vol 86, No 6 (2009) - Articles Therapeutic misconception and clinical trials in sub-saharan Africa: A review. Abstract PDF · Vol 86, No 11 (2009) - Articles HIV/AIDS and pregnancy-related deaths in Blantyre, Malawi

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    Green, J.M.. Vol 10, No 1 (2001) - Articles Information from Radio Telemetry on movements and exploitation of naturalized Rainbow trout, Oncorhynchus mykiss (Walbaum), in Kenya cold water streams. Details. ISSN: 0002-0036. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians ...

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    Erasmus, GJ. Vol 1, No 1 (2001) - Articles Genetic parameter estimates for growth traits in purebred Gudali and two-breed synthetic Wakwa beef cattle in a tropical environment. Details PDF · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Odigie, IP. Vol 10, No 4 (2000) - Articles High dose vitamin E administration attenuates hypertensin in 2-Kidney 1 Clip Goldblatt hypertensive rats. Details. ISSN: 0189-2657. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms ...

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    Motabagani, MA. Vol 80, No 9 (2003): - Articles Anomalies of the renal, phrenic and suprarenal arteries: Case Report Details PDF · Vol 81, No 3 (2004): - Articles Morphological study of the uncommon rectus sterni muscle in German cadavers. Abstract PDF. ISSN: 0012-835X. AJOL African Journals Online. HOW TO USE ...

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    Ibeabuchi, NM. Vol 10, No 3 (2000) - Articles Comparison of the effects of Methylsalicylate Cream with cryotherapy on delayed onset muscle soreness. Details · Vol 22, No 2 (2012) - Articles X-ray Pelvimetry And Labour Outcome In Term Pregnancy In A Rural Nigerian Population Abstract. ISSN: 0189-2657. AJOL African ...

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    Warnorff, DK. Vol 13, No 4 (2001) - Articles Development of a scoring system for the diagnosis of tuberculous lymphadenitis. Details PDF. ISSN: 1995-7262. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions ...

  1. A path flux analysis method for the reduction of detailed chemical kinetic mechanisms

    Energy Technology Data Exchange (ETDEWEB)

    Sun, Wenting; Ju, Yiguang [Department of Mechanical and Aerospace Engineering, Princeton University, Princeton, NJ 08544 (United States); Chen, Zheng [State Key Laboratory for Turbulence and Complex Systems, College of Engineering, Peking University, Beijing 100871 (China); Gou, Xiaolong [School of Power Engineering, Chongqing University, Chongqing 400044 (China)

    2010-07-15

    A direct path flux analysis (PFA) method for kinetic mechanism reduction is proposed and validated by using high temperature ignition, perfect stirred reactors, and steady and unsteady flame propagations of n-heptane and n-decane/air mixtures. The formation and consumption fluxes of each species at multiple reaction path generations are analyzed and used to identify the important reaction pathways and the associated species. The formation and consumption path fluxes used in this method retain flux conservation information and are used to define the path indexes for the first and the second generation reaction paths related to a targeted species. Based on the indexes of each reaction path for the first and second generations, different sized reduced chemical mechanisms which contain different number of species are generated. The reduced mechanisms of n-heptane and n-decane obtained by using the present method are compared to those generated by the direct relation graph (DRG) method. The reaction path analysis for n-decane is conducted to demonstrate the validity of the present method. The comparisons of the ignition delay times, flame propagation speeds, flame structures, and unsteady spherical flame propagation processes showed that with either the same or significantly less number of species, the reduced mechanisms generated by the present PFA are more accurate than that of DRG in a broad range of initial pressures and temperatures. The method is also integrated with the dynamic multi-timescale method and a further increase of computation efficiency is achieved. (author)

  2. Cath lab costs in patients undergoing percutaneous coronary angioplasty - detailed analysis of consecutive procedures.

    Science.gov (United States)

    Dziki, Beata; Miechowicz, Izabela; Iwachów, Piotr; Kuzemczak, Michał; Kałmucki, Piotr; Szyszka, Andrzej; Baszko, Artur; Siminiak, Tomasz

    2017-01-01

    Costs of percutaneous coronary interventions (PCI) have an important impact on health care expenditures. Despite the present stress upon the cost-effectiveness issues in medicine, few comprehensive data exist on costs and resource use in different clinical settings. To assess catheterisation laboratory costs related to use of drugs and single-use devices in patients undergoing PCI due to coronary artery disease. Retrospective analysis of 1500 consecutive PCIs (radial approach, n = 1103; femoral approach, n = 397) performed due to ST segment elevation myocardial infarction (STEMI; n = 345) and non ST-segment elevation myocardial infarction (NSTEMI; n = 426) as well as unstable angina (UA; n = 489) and stable angina (SA; n = 241) was undertaken. Comparative cost analysis was performed and shown in local currency units (PLN). The cath lab costs were higher in STEMI (4295.01 ± 2384.54PLN, p costs were positively correlated with X-ray dose, fluoroscopy, and total procedure times. Patients' age negatively correlated with cath lab costs in STEMI/NSTEMI patients. Cath lab costs were higher in STEMI patients compared to other groups. In STEMI/NSTEMI they were lower in older patients. In all analysed groups costs were related to the level of procedural difficulty. In female patients, the costs of PCI performed via radial approach were higher compared to femoral approach. Despite younger age, male patients underwent more expensive procedures.

  3. Detailed analysis of the TMI-2 accident scenario by using MARS/SCDAP

    International Nuclear Information System (INIS)

    Park, Rae Joon; Lee, Young Jin; Chung, Bub Dong

    2009-01-01

    As part of a benchmark analysis, the Three Mile Island Unit 2 (TMI-2) accident has been analyzed by using the MARS/SCDAP computer code. This analysis has been performed to estimate the efficiency of the MARS/SCDAP computer code and the predictive qualities of its models from an initiating event to a severe accident. The MARS/SCDAP results have shown that a reduction feed water to the steam generator caused the coolant to expand and initially increased the reactor coolant system (RCS) pressure. The pilot-operated relief valve (PORV) opened when the pressure reached 15.7 MPa, with a reactor scram occurring when the pressure reached 16.3 MPa. The PORV failed to close as the RCS pressure decreased, initiating a small break loss of coolant accident. The emergency core cooling was reduced by operators who thought that the pressurizer liquid level indicated a nearly full RCS, while coolant continued to be lost from the PORV. After an initial decrease in the RCS pressure, the pressurizer pressure remained at approximately 7 MPa. After a pump termination at 6,000 seconds, the liquid level in the reactor vessel decreased, which resulted in a core uncovery. Continued core degradation with a coolant boiling caused the pressurizer pressure to increase. The MARS/SCDAP results are very similar to the TMI-2 data

  4. Detailed electromagnetic analysis for optimization of a tungsten divertor plate for JET

    International Nuclear Information System (INIS)

    Sadakov, S.; Bondarchuk, E.; Doinikov, N.; Kitaev, B.; Kozhukhovskaya, N.; Maximiva, I.; Hirai, T.; Mertens, P.; Neubauer, O.; Obidenko, T.

    2006-01-01

    The ITER-like wall project at JET involves the replacement of the divertor tiles by either tungsten-coated carbon fibre composite (CFC) or solid tungsten. The background is a full replacement of CFC in order to avoid tritium retention due to co-deposition of carbon. In a R-and-D phase (T.Hirai et al., R-and-D on full tungsten divertor and beryllium wall for JET ITER-like Wall Project.), both tungsten coating and solid tungsten are investigated. Tungsten has a high electrical conductivity, exceeding that of graphite or CFC by two orders of magnitude. This drawback has to be compensated by a proper design (Ph. Mertens et al., Conceptual Design for a Bulk Tungsten Divertor Tile in JET (both citations: this conference)). This report shows how detailed electromagnetic consideration has influenced the design of the solid tungsten divertor for JET. Patterns and sum values were calculated for: (1) eddy currents induced by variation of two orthogonal magnetic fields; (2) toroidal eddy current induced by variation of the poloidal magnetic flux, (3) eddy-current related loads in three orthogonal magnetic fields; (4) Halo current pattern for two cases; (5) Halo-current related loads in three orthogonal magnetic fields; (6) the worst loads combinations; (7) stresses in fixtures. Analytical and numerical methods were combined and cross-checked. The load-bearing septum replacement plate (LB-SRP) which is currently used in the JET divertor consists of two large CFC tiles attached to two superimposed Inconel frames, namely wedge and adapter. The present design is quite loaded by eddy-currents and does not allow for simple replacement of the CFC with solid tungsten. A tree-like shape, which excludes large contours of eddy currents, is proposed. In realization of the tree-like shape, the wedge has a narrow middle part, elongated in radial direction, and eight wings, elongated in toroidal direction. Eight feet form the Halo current path. Each wing carries one tungsten lamellae stack

  5. Quantitative analysis of detailed lignin monomer composition by pyrolysis-gas chromatography combined with preliminary acetylation of the samples.

    Science.gov (United States)

    Sonoda, T; Ona, T; Yokoi, H; Ishida, Y; Ohtani, H; Tsuge, S

    2001-11-15

    Detailed quantitative analysis of lignin monomer composition comprising p-coumaryl, coniferyl, and sinapyl alcohol and p-coumaraldehyde, coniferaldehyde, and sinapaldehyde in plant has not been studied from every point mainly because of artifact formation during the lignin isolation procedure, partial loss of the lignin components inherent in the chemical degradative methods, and difficulty in the explanation of the complex spectra generally observed for the lignin components. Here we propose a new method to quantify lignin monomer composition in detail by pyrolysis-gas chromatography (Py-GC) using acetylated lignin samples. The lignin acetylation procedure would contribute to prevent secondary formation of cinnamaldehydes from the corresponding alcohol forms during pyrolysis, which are otherwise unavoidable in conventional Py-GC process to some extent. On the basis of the characteristic peaks on the pyrograms of the acetylated sample, lignin monomer compositions in various dehydrogenative polymers (DHP) as lignin model compounds were determined, taking even minor components such as cinnamaldehydes into consideration. The observed compositions by Py-GC were in good agreement with the supplied lignin monomer contents on DHP synthesis. The new Py-GC method combined with sample preacetylation allowed us an accurate quantitative analysis of detailed lignin monomer composition using a microgram order of extractive-free plant samples.

  6. Detailed analysis of the Valdes slide: a landward facing slope failure off Chile

    Science.gov (United States)

    Anasetti, Andrea; Krastel, Sebastian; Weinrebe, Willy; Klaucke, Ingo; Bialas, Jorge

    2010-05-01

    The Chilean continental margin is a very active area interested by important tectonic movements and characterized by a fast morphological evolution. Geophysical data acquired during cruise JC 23, aboard RV JAMES COOK in March/April 2008 and previous cruises cover most of the active Chilean continental margin between 33° and 37° S. Integrated interpretation of multi-beam bathymetric, sub-bottom profiles, side-scan sonar and seismic data allowed the identification of a number of slope failures. The main topic of this project is the morphological and sedimentological analysis of the Valdes slide, a medium-sized submarine landslide offshore the city of Talcahuano (300 km south of Santiago). In contrast to most other slides along continental margins, the Valdes slide is located on the landward facing eastern slope of a submarine ridge. This setting has important implications for the associated tsunami wave field (first arrival of positive amplitude). We measured geometrical parameters of the failure and adjacent slope. The slide affected an area of 19 km2 between ~1060 m and >1700 m water depths. Its is ~ 6 km long, up to 3 km wide and involved a total sedimentary volume of about 0,8 km3. The failure process was characterized by a multiple-event and we assume its tsunami potential to be high. Using the high resolution bathymetric data and the seismic profiles along the slide deposit it was possible to reconstruct the original morphology of the area in order to understand the relation between the slide event and the structural evolution of the ridge. Through the analysis of the data and bibliographic information about the Chilean margin, we analyzed potential trigger mechanisms for the landslide. The Valdes slide is situated on a steep ridge flank. The ridge follows an elongated fault zone running app. parallel to the margin. This fault zone has a dextral component which in combination with the faults elongation results in a compressional regime that is superimposed on

  7. The interaction between coagulation factor 2 receptor and interleukin 6 haplotypes increases the risk of myocardial infarction in men.

    Directory of Open Access Journals (Sweden)

    Bruna Gigante

    Full Text Available The aim of the study was to investigate if the interaction between the coagulation factor 2 receptor (F2R and the interleukin 6 (IL6 haplotypes modulates the risk of myocardial infarction (MI in the Stockholm Heart Epidemiology Program (SHEEP. Seven SNPs at the F2R locus and three SNPs at the IL6 locus were genotyped. Haplotypes and haplotype pairs (IL6*F2R were generated. A logistic regression analysis was performed to analyze the association of the haplotypes and haplotype pairs with the MI risk. Presence of an interaction between the two haplotypes in each haplotype pair was calculated using two different methods: the statistical, on a multiplicative scale, which includes the cross product of the two factors into the logistic regression model; the biological, on an additive scale, which evaluates the relative risk associated with the joint presence of both factors. The ratio between the observed and the predicted effect of the joint exposure, the synergy index (S, indicates the presence of a synergy (S>1 or of an antagonism (S<1. None of the haplotypes within the two loci was associated with the risk of MI. Out of 22 different haplotype pairs, the haplotype pair 17 GGG*ADGTCCT was associated with an increased risk of MI with an OR (95%CI of 1.58 (1.05-2.41 (p = 0.02 in the crude and an OR of 1.72 (1.11-2.67 (p = 0.01 in the adjusted analysis. We observed the presence of an interaction on a multiplicative scale with an OR (95%CI of 2.24 (1.27-3.95 (p = 0.005 and a slight interactive effect between the two haplotypes on an additive scale with an OR (95%CI of 1.56 (1.02-2.37 (p = 0.03 and S of 1.66 (0.89-31. In conclusion, our results support the hypothesis that the interaction between these two functionally related genes may influence the risk of MI and suggest new mechanisms involved in the genetic susceptibility to MI.

  8. Evidence and Consequence of a Highly Adapted Clonal Haplotype within the Australian Ascochyta rabiei Population

    Directory of Open Access Journals (Sweden)

    Yasir Mehmood

    2017-06-01

    Full Text Available The Australian Ascochyta rabiei (Pass. Labr. (syn. Phoma rabiei population has low genotypic diversity with only one mating type detected to date, potentially precluding substantial evolution through recombination. However, a large diversity in aggressiveness exists. In an effort to better understand the risk from selective adaptation to currently used resistance sources and chemical control strategies, the population was examined in detail. For this, a total of 598 isolates were quasi-hierarchically sampled between 2013 and 2015 across all major Australian chickpea growing regions and commonly grown host genotypes. Although a large number of haplotypes were identified (66 through short sequence repeat (SSR genotyping, overall low gene diversity (Hexp = 0.066 and genotypic diversity (D = 0.57 was detected. Almost 70% of the isolates assessed were of a single dominant haplotype (ARH01. Disease screening on a differential host set, including three commonly deployed resistance sources, revealed distinct aggressiveness among the isolates, with 17% of all isolates identified as highly aggressive. Almost 75% of these were of the ARH01 haplotype. A similar pattern was observed at the host level, with 46% of all isolates collected from the commonly grown host genotype Genesis090 (classified as “resistant” during the term of collection identified as highly aggressive. Of these, 63% belonged to the ARH01 haplotype. In conclusion, the ARH01 haplotype represents a significant risk to the Australian chickpea industry, being not only widely adapted to the diverse agro-geographical environments of the Australian chickpea growing regions, but also containing a disproportionately large number of aggressive isolates, indicating fitness to survive and replicate on the best resistance sources in the Australian germplasm.

  9. The complexity of Rhipicephalus (Boophilus microplus genome characterised through detailed analysis of two BAC clones

    Directory of Open Access Journals (Sweden)

    Valle Manuel

    2011-07-01

    Full Text Available Abstract Background Rhipicephalus (Boophilus microplus (Rmi a major cattle ectoparasite and tick borne disease vector, impacts on animal welfare and industry productivity. In arthropod research there is an absence of a complete Chelicerate genome, which includes ticks, mites, spiders, scorpions and crustaceans. Model arthropod genomes such as Drosophila and Anopheles are too taxonomically distant for a reference in tick genomic sequence analysis. This study focuses on the de-novo assembly of two R. microplus BAC sequences from the understudied R microplus genome. Based on available R. microplus sequenced resources and comparative analysis, tick genomic structure and functional predictions identify complex gene structures and genomic targets expressed during tick-cattle interaction. Results In our BAC analyses we have assembled, using the correct positioning of BAC end sequences and transcript sequences, two challenging genomic regions. Cot DNA fractions compared to the BAC sequences confirmed a highly repetitive BAC sequence BM-012-E08 and a low repetitive BAC sequence BM-005-G14 which was gene rich and contained short interspersed elements (SINEs. Based directly on the BAC and Cot data comparisons, the genome wide frequency of the SINE Ruka element was estimated. Using a conservative approach to the assembly of the highly repetitive BM-012-E08, the sequence was de-convoluted into three repeat units, each unit containing an 18S, 5.8S and 28S ribosomal RNA (rRNA encoding gene sequence (rDNA, related internal transcribed spacer and complex intergenic region. In the low repetitive BM-005-G14, a novel gene complex was found between to 2 genes on the same strand. Nested in the second intron of a large 9 Kb papilin gene was a helicase gene. This helicase overlapped in two exonic regions with the papilin. Both these genes were shown expressed in different tick life stage important in ectoparasite interaction with the host. Tick specific sequence

  10. NONLINEAR FINITE ELEMENT ANALYSIS OF NONSEISMICALLY DETAILED INTERIOR RC BEAM-COLUMN CONNECTION UNDER REVERSED CYCLIC LOAD

    Directory of Open Access Journals (Sweden)

    Teeraphot Supaviriyakit

    2017-11-01

    Full Text Available This paper presents a nonlinear finite element analysis of non-seismically detailed RC beam column connections under reversed cyclic load. The test of half-scale nonductile reinforced concrete beam-column joints was conducted. The tested specimens represented those of the actual mid-rise reinforced concrete frame buildings designed according to the non-seismic provisions of the ACI building code.  The test results show that specimens representing small and medium column tributary area failed in brittle joint shear while specimen representing large column tributary area failed by ductile flexure though no ductile reinforcement details were provided. The nonlinear finite element analysis was applied to simulate the behavior of the specimens. The finite element analysis employs the smeared crack approach for modeling beam, column and joint, and employs the discrete crack approach for modeling the interface between beam and joint face. The nonlinear constitutive models of reinforced concrete elements consist of coupled tension-compression model to model normal force orthogonal and parallel to the crack and shear transfer model to capture the shear sliding mechanism. The FEM shows good comparison with test results in terms of load-displacement relations, hysteretic loops, cracking process and the failure mode of the tested specimens. The finite element analysis clarifies that the joint shear failure was caused by the collapse of principal diagonal concrete strut.

  11. Enhanced Ethanol and Biogas Production from Pinewood by NMMO Pretreatment and Detailed Biomass Analysis

    Directory of Open Access Journals (Sweden)

    Marzieh Shafiei

    2014-01-01

    Full Text Available N-Methyl morpholine-N-oxide (NMMO is an environmentally friendly and commercially applied cellulose solvent that is suggested for pretreatment of lignocelluloses to improve biofuel productions. However, the underlying mechanisms of the improvements have been poorly understood yet. In an attempt to investigate the mechanisms, pinewood powder and chips were pretreated with 85% (w/w NMMO at 120°C for 1–15 h. The pretreatment improved ethanol production yield from 7.2% (g/g for the untreated wood powder to 68.1–86.1% (g/g and from 1.7% (g/g for the untreated wood chips to 12.6–51.2% (g/g of theoretical yield. Similarly, the biogas yields of untreated wood chips and powder were improved from 21 and 66 (mL/g volatile solids by 3.5–6.8- and 2.6–3.4-folds, respectively. SEM micrographs indicated major increase in the wood porosity by the pretreatment, which would confirm increase in the water swelling capacity as well as enzyme adsorption. The analysis of X-ray diffraction showed considerable reduction in the cellulose crystallinity by the pretreatment, while FTIR spectroscopy results indicated reduction of lignin on the wood surface by the pretreatment.

  12. Research priorities by professional background - A detailed analysis of the James Lind Alliance Priority Setting Partnership.

    Science.gov (United States)

    Arulkumaran, Nishkantha; Reay, Hannah; Brett, Stephen J

    2016-05-01

    The Intensive Care Foundation, in partnership with the James Lind Alliance, has supported a national project to identify and prioritise unanswered questions about adult intensive care that are important to people who have been critically ill, their families, and the health professionals who care for them. We conducted a secondary analysis to explore differences in priorities determined by different respondent groups in order to identify different groups' perceptions of gaps in knowledge. There were two surveys conducted as part of the original project. Survey 1 comprised a single open question to identify important research topics; survey 2 aimed to prioritise these topics using a 10-point Likert scale. In survey 1, despite clear differences in suggestions amongst the respondent groups, themes of comfort/communication and post-ICU rehabilitation were the within the top 2 suggestions across all groups. Patients and relatives suggested research topics to which they could easily relate, whereas there was a greater breadth of suggestions from clinicians. In survey 2, the number of research priorities that received a mode score of 10 varied from 1 to 36. Patients scored 36 out of the 37 topics with a mode score of 10. All other groups scored topics with more discrimination, with the number of topics with a mode score of 10 ranging from 1 to 20. Differences in the proportions of the representative groups are therefore unlikely to have translated to an impartial conclusion. Clinicians, patients, and family members have jointly identified the research priorities for UK ICM practice.

  13. Detailed tail proteomic analysis of axolotl (Ambystoma mexicanum) using an mRNA-seq reference database.

    Science.gov (United States)

    Demircan, Turan; Keskin, Ilknur; Dumlu, Seda Nilgün; Aytürk, Nilüfer; Avşaroğlu, Mahmut Erhan; Akgün, Emel; Öztürk, Gürkan; Baykal, Ahmet Tarık

    2017-01-01

    Salamander axolotl has been emerging as an important model for stem cell research due to its powerful regenerative capacity. Several advantages, such as the high capability of advanced tissue, organ, and appendages regeneration, promote axolotl as an ideal model system to extend our current understanding on the mechanisms of regeneration. Acknowledging the common molecular pathways between amphibians and mammals, there is a great potential to translate the messages from axolotl research to mammalian studies. However, the utilization of axolotl is hindered due to the lack of reference databases of genomic, transcriptomic, and proteomic data. Here, we introduce the proteome analysis of the axolotl tail section searched against an mRNA-seq database. We translated axolotl mRNA sequences to protein sequences and annotated these to process the LC-MS/MS data and identified 1001 nonredundant proteins. Functional classification of identified proteins was performed by gene ontology searches. The presence of some of the identified proteins was validated by in situ antibody labeling. Furthermore, we have analyzed the proteome expressional changes postamputation at three time points to evaluate the underlying mechanisms of the regeneration process. Taken together, this work expands the proteomics data of axolotl to contribute to its establishment as a fully utilized model. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  14. Reference accident (Core disruption accident - safety analysis detailed report no. 11)

    Energy Technology Data Exchange (ETDEWEB)

    1988-01-15

    The PEC safety analysis led to the conclusion that all credible sequences (incident sequences characterized by a frequency of occurrence above 10/sup minus 7/ events per year) are limited to the design basis conditions of components of the plant protection systems, and that none of them leads to a release of mechanical energy or to an extensive damage of the core and primary containment structures event in the case of failure to scram. Nevertheless, as is done in other countries for similar reactors, some events beyond the limits of credibility were considered for the PEC reactor. These were defined on a absolutely hypothetical basis that involves severe core disruption and dynamic loading of primary containment boundary. A series of containments, each having a different role, was designed to mitigate the radiological effects of a postulated core disruptive accident. The final aim was to demonstrate that residual heat can be removed and that the release of radioactivity to the environment is within acceptable limits.

  15. The economics of recovery after pancreatic surgery: detailed cost minimization analysis of an enhanced recovery program.

    Science.gov (United States)

    Kagedan, Daniel J; Devitt, Katharine S; Tremblay St-Germain, Amélie; Ramjaun, Aliya; Cleary, Sean P; Wei, Alice C

    2017-11-01

    Clinical pathways (CPW) are considered safe and effective at decreasing postoperative length of stay (LoS), but the effect on economic costs is uncertain. This study sought to elucidate the effect of a CPW on direct hospitalization costs for patients undergoing pancreaticoduodenectomy (PD). A CPW for PD patients at a single Canadian institution was implemented. Outcomes included LoS, 30-day readmissions, and direct costs of hospital care. A retrospective cost minimization analysis compared patients undergoing PD prior to and following CPW implementation, using a bootstrapped t test and deviation-based cost modeling. 121 patients undergoing PD after CPW implementation were compared to 74 controls. Index LoS was decreased following CPW implementation (9 vs. 11 days, p = 0.005), as was total LoS (10 vs. 11 days, p = 0.003). The mean total cost of postoperative hospitalization per patient decreased in the CPW group ($15,678.45 CAD vs. $25,732.85 CAD, p = 0.024), as was the mean 30-day cost including readmissions ($16,627.15 CAD vs. $29,872.72 CAD, p = 0.016). Areas of significant cost savings included laboratory tests and imaging investigations. CPWs may generate cost savings by reducing unnecessary investigations, and improve quality of care through process standardization and decreasing practice variation. Copyright © 2017 International Hepato-Pancreato-Biliary Association Inc. Published by Elsevier Ltd. All rights reserved.

  16. Initiation of and distributed deformation at and around stylolite interfaces: Insights from detailed microstructural analysis

    Science.gov (United States)

    Ebner, M.; Piazolo, S.; Koehn, D.

    2009-04-01

    In the present contribution we investigate the microstructure of bedding parallel and bedding normal stylolites in carbonate rocks. We focused our study on micro-stylolites which represent an initial stage of this localised pressure solution process as stylolite roughness amplitude is a function of strain. We use electron backscatter diffraction analysis (EBSD) and orientation contrast imaging to address the following issues: (i) What causes the initiation of stylolite interfaces at a submicroscopic scale, (ii) is there distributed deformation around the stylolite interface and (iii) what is the role of the interface (residuum)? Our findings demonstrate that the characteristic stylolite teeth are initiated at a pre-existing heterogeneity in the host-rock. This quenched noise in carbonate rocks is typically composed of clay particles in the submicron scale. In addition, qtz-grains are present along especially pronounced stylolite peaks. The stylolite interface evolves with increasing strain from individual clay particles separated by grain-grain contacts of calcite along the interface to a continuous layer of clay and oxides. Thickness variation of the residuum along the interface is inferred to be strongly influenced by the pre-existing distribution of pinning particles that are more resistant to dissolution. Another important observation is that a shaped preferred orientation (SPO) exists in a halo around the stylolite. This SPO increases with proximity to the stylolite interface. Within this halo, crystal plastic deformation is expressed by subgrain formation with subgrain boundaries usually aligned parallel to shortening direction. Bedding normal (tectonic) stylolites which overprint already compacted beds i.e. with a pre-existing sedimentary SPO parallel to the bedding plane exhibit a SPO at a high angle to the sedimentary SPO. We conclude that stylolite roughness is primarily caused by pre-existing heterogeneities in the host-rock which are more resistant to

  17. Detailed microstructure analysis of as-deposited and etched porous ZnO films

    International Nuclear Information System (INIS)

    Shang, Congcong; Thimont, Yohann; Barnabé, Antoine; Presmanes, Lionel; Pasquet, Isabelle; Tailhades, Philippe

    2015-01-01

    Graphical abstract: - Highlights: • Porous ZnO thin films were deposited by rf magnetron sputtering. • Surface enhancement factors were deduced from geometrical considerations. • Enlargement of the inter-grain spaces have been achieved by HCl chemical etching. • Microstructural parameters were deduced from SEM, AFM and optical measurements. - Abstract: ZnO nanostructured materials in thin film forms are of particular interest for photovoltaic or photocatalysis processes but they suffer from a lack of simple methods for optimizing their microstructure. We have demonstrated that microporous ZnO thin films with optimized inter grain accessibility can be produce by radio frequency magnetron sputtering process and chemical etching with 2.75 mM HCl solution for different duration. The as-deposited ZnO thin films were first characterized in terms of structure, grain size, inter grain space, open cavity depth and total thickness of the film by XRD, AFM, SEM, profilometry and optical measurements. A specific attention was dedicated to the determination of the surface enhancement factor (SEF) by using basic geometrical considerations and images treatments. In addition, the porous fraction and its distribution in the thickness have been estimated thanks to the optical simulation of the experimental UV–Visible–IR spectrums using the Bruggeman dielectric model and cross section SEM images analysis respectively. This study showed that the microstructure of the as-deposited films consists of a dense layer covered by a porous upper layer developing a SEF of 12–13 m 2 m −2 . This two layers architecture is not modified by the etching process. The etching process only affects the upper porous layer in which the overall porosity and the inter-grain space increase with the etching duration. Column diameter and total film thickness decrease at the same time when the films are soaked in the HCl bath. The microporous structure obtained after the etching process could

  18. NSTX Disruption Simulations of Detailed Divertor and Passive Plate Models by Vector Potential Transfer from OPERA Global Analysis Results

    International Nuclear Information System (INIS)

    Titus, P.H.; Avasaralla, S.; Brooks, A.; Hatcher, R.

    2010-01-01

    The National Spherical Torus Experiment (NSTX) project is planning upgrades to the toroidal field, plasma current and pulse length. This involves the replacement of the center-stack, including the inner legs of the TF, OH, and inner PF coils. A second neutral beam will also be added. The increased performance of the upgrade requires qualification of the remaining components including the vessel, passive plates, and divertor for higher disruption loads. The hardware needing qualification is more complex than is typically accessible by large scale electromagnetic (EM) simulations of the plasma disruptions. The usual method is to include simplified representations of components in the large EM models and attempt to extract forces to apply to more detailed models. This paper describes a more efficient approach of combining comprehensive modeling of the plasma and tokamak conducting structures, using the 2D OPERA code, with much more detailed treatment of individual components using ANSYS electromagnetic (EM) and mechanical analysis. This capture local eddy currents and resulting loads in complex details, and allows efficient non-linear, and dynamic structural analyses.

  19. NSTX Disruption Simulations of Detailed Divertor and Passive Plate Models by Vector Potential Transfer from OPERA Global Analysis Results

    Energy Technology Data Exchange (ETDEWEB)

    P. H. Titus, S. Avasaralla, A.Brooks, R. Hatcher

    2010-09-22

    The National Spherical Torus Experiment (NSTX) project is planning upgrades to the toroidal field, plasma current and pulse length. This involves the replacement of the center-stack, including the inner legs of the TF, OH, and inner PF coils. A second neutral beam will also be added. The increased performance of the upgrade requires qualification of the remaining components including the vessel, passive plates, and divertor for higher disruption loads. The hardware needing qualification is more complex than is typically accessible by large scale electromagnetic (EM) simulations of the plasma disruptions. The usual method is to include simplified representations of components in the large EM models and attempt to extract forces to apply to more detailed models. This paper describes a more efficient approach of combining comprehensive modeling of the plasma and tokamak conducting structures, using the 2D OPERA code, with much more detailed treatment of individual components using ANSYS electromagnetic (EM) and mechanical analysis. This capture local eddy currents and resulting loads in complex details, and allows efficient non-linear, and dynamic structural analyses.

  20. A detailed description of the analysis of the decay of neutral kaons to $\\pi^+ \\pi^-$ in the CPLEAR experiment

    CERN Document Server

    Apostolakis, Alcibiades J; Backenstoss, Gerhard; Bargassa, P; Behnke, O; Benelli, A; Bertin, V; Blanc, F; Bloch, P; Carlson, P J; Carroll, M; Cawley, E; Chertok, M B; Danielsson, M; Dejardin, M; Derré, J; Ealet, A; Eleftheriadis, C; Fetscher, W; Fidecaro, Maria; Filipcic, A; Francis, D; Fry, J; Gabathuler, Erwin; Gamet, R; Gerber, H J; Go, A; Haselden, A; Hayman, P J; Henry-Coüannier, F; Hollander, R W; Jon-And, K; Kettle, P R; Kokkas, P; Kreuger, R; Le Gac, R; Leimgruber, F; Mandic, I; Manthos, N; Marel, Gérard; Mikuz, M; Miller, J; Montanet, François; Müller, A; Nakada, Tatsuya; Pagels, B; Papadopoulos, I M; Pavlopoulos, P; Polivka, G; Rickenbach, R; Roberts, B L; Ruf, T; Sakelliou, L; Schäfer, M; Schaller, L A; Schietinger, T; Schopper, A; Tauscher, Ludwig; Thibault, C; Touchard, F; Touramanis, C; van Eijk, C W E; Vlachos, S; Weber, P; Wigger, O; Wolter, M; Yéche, C; Zavrtanik, D; Zimmerman, D

    2000-01-01

    A detailed description is given of the analysis of neutral kaons decaying to \\pipi , based on the complete data sample collected with the CPLEAR experiment.Using a novel approach involving initially strangeness-tagged \\kn\\ and \\knb ,the time-dependent decay rate asymmetry has been measured. This asymmetry, resulting from the interference between the \\ks\\and \\kl\\ decay amplitudes, has enabled both the magnitudeand phase of the CP-violation parameter, \\ita , to be measured, with aprecision comparable to that of the current world average values.

  1. A Chemical Eight Group Separation Method for Routine Use in Gamma Spectrometric Analysis. II. Detailed analytical schema

    Energy Technology Data Exchange (ETDEWEB)

    Samsahl, K

    1961-06-15

    A detailed ion-exchange procedure for the separation of chemical elements in eight groups suitable for subsequent gamma spectrometric analysis is described. The method has been in use for gamma spectrometry of some inorganic - but mostly organic - samples for one year. The separation time for inorganic samples, is usually about 1.5 hours and for organic samples as least 2 hours. One man can separate and count three samples per day. In comparative measurements of short-lived isotopes in biological material 10-12 elements can be analysed thus making possible 30 - 35 determinations per day for one man.

  2. A detailed description of the analysis of the decay of neutral kaons to π+π- in the CPLEAR experiment

    International Nuclear Information System (INIS)

    Apostolakis, A.; Aslanides, E.

    2000-01-01

    A detailed description is given of the analysis of neutral kaons decaying to π + π - , based on the complete set of data collected with the CPLEAR experiment. Using a novel approach involving initially strangeness-tagged K 0 and anti K 0 , the time-dependent decay-rate asymmetry has been measured. This asymmetry, resulting from the interference between the K S and K L decay amplitudes, has enabled both the magnitude and phase of the CP-violation parameter, η +- , to be measured, with a precision comparable to that of the current world-average values. (orig.)

  3. Detailed statistical analysis plan for the target temperature management after out-of-hospital cardiac arrest trial

    DEFF Research Database (Denmark)

    Nielsen, Niklas; Winkel, Per; Cronberg, Tobias

    2013-01-01

    Animal experimental studies and previous randomized trials suggest an improvement in mortality and neurological function with temperature regulation to hypothermia after cardiac arrest. According to a systematic review, previous trials were small, had a risk of bias, evaluated select populations......, and did not treat hyperthermia in the control groups. The optimal target temperature management (TTM) strategy is not known. To prevent outcome reporting bias, selective reporting and data-driven results, we present the a priori defined detailed statistical analysis plan as an update to the previously...

  4. Academic detailing.

    Science.gov (United States)

    Shankar, P R; Jha, N; Piryani, R M; Bajracharya, O; Shrestha, R; Thapa, H S

    2010-01-01

    There are a number of sources available to prescribers to stay up to date about medicines. Prescribers in rural areas in developing countries however, may not able to access some of them. Interventions to improve prescribing can be educational, managerial, and regulatory or use a mix of strategies. Detailing by the pharmaceutical industry is widespread. Academic detailing (AD) has been classically seen as a form of continuing medical education in which a trained health professional such as a physician or pharmacist visits physicians in their offices to provide evidence-based information. Face-to-face sessions, preferably on an individual basis, clear educational and behavioural objectives, establishing credibility with respect to objectivity, stimulating physician interaction, use of concise graphic educational materials, highlighting key messages, and when possible, providing positive reinforcement of improved practices in follow-up visits can increase success of AD initiatives. AD is common in developed countries and certain examples have been cited in this review. In developing countries the authors have come across reports of AD in Pakistan, Sudan, Argentina and Uruguay, Bihar state in India, Zambia, Cuba, Indonesia and Mexico. AD had a consistent, small but potentially significant impact on prescribing practices. AD has much less resources at its command compared to the efforts by the industry. Steps have to be taken to formally start AD in Nepal and there may be specific hindering factors similar to those in other developing nations.

  5. HapCol : Accurate and memory-efficient haplotype assembly from long reads

    NARCIS (Netherlands)

    Pirola, Yuri; Zaccaria, Simone; Dondi, Riccardo; Klau, Gunnar W.; Pisanti, Nadia; Bonizzoni, Paola

    2016-01-01

    Motivation: Haplotype assembly is the computational problem of reconstructing haplotypes in diploid organisms and is of fundamental importance for characterizing the effects of single-nucleotide polymorphisms on the expression of phenotypic traits. Haplotype assembly highly benefits from the advent

  6. HapCol: Accurate and Memory-efficient Haplotype Assembly from Long Reads

    NARCIS (Netherlands)

    Y. Pirola (Yuri); S. Zaccaria (Simone); R. Dondi (Riccardo); G.W. Klau (Gunnar); N. Pisanti (Nadia); P. Bonizzoni (Paola)

    2015-01-01

    htmlabstractMotivation: Haplotype assembly is the computational problem of reconstructing haplotypes in diploid organisms and is of fundamental importance for characterizing the effects of single-nucleotide polymorphisms on the expression of phenotypic traits. Haplotype assembly highly benefits from

  7. Laser scanning cytometry (LCS) allows detailed analysis of the cell cycle in PI stained human fibroblasts (TIG-7).

    Science.gov (United States)

    Kawasaki, M; Sasaki, K; Satoh, T; Kurose, A; Kamada, T; Furuya, T; Murakami, T; Todoroki, T

    1997-01-01

    We have demonstrated a method for the in situ determination of the cell cycle phases of TIG-7 fibroblasts using a laser scanning cytometer (LSC) which has not only a function equivalent to flow cytometry (FCM) but also has a capability unique in itself. LSC allows a more detailed analysis of the cell cycle in cells stained with propidium iodide (PI) than FCM. With LSC it is possible to discriminate between mitotic cells and G2 cells, between post-mitotic cells and G1 cells, and between quiescent cells and cycling cells in a PI fluorescence peak (chromatin condensation) vs. fluorescence value (DNA content) cytogram for cells stained with PI. These were amply confirmed by experiments using colcemid and adriamycin. We were able to identify at least six cell subpopulations for PI stained cells using LSC; namely G1, S, G2, M, postmitotic and quiescent cell populations. LSC analysis facilitates the monitoring of effects of drugs on the cell cycle.

  8. Haplotype mapping of a diploid non-meiotic organism using existing and induced aneuploidies.

    Directory of Open Access Journals (Sweden)

    Melanie Legrand

    2008-01-01

    Full Text Available Haplotype maps (HapMaps reveal underlying sequence variation and facilitate the study of recombination and genetic diversity. In general, HapMaps are produced by analysis of Single-Nucleotide Polymorphism (SNP segregation in large numbers of meiotic progeny. Candida albicans, the most common human fungal pathogen, is an obligate diploid that does not appear to undergo meiosis. Thus, standard methods for haplotype mapping cannot be used. We exploited naturally occurring aneuploid strains to determine the haplotypes of the eight chromosome pairs in the C. albicans laboratory strain SC5314 and in a clinical isolate. Comparison of the maps revealed that the clinical strain had undergone a significant amount of genome rearrangement, consisting primarily of crossover or gene conversion recombination events. SNP map haplotyping revealed that insertion and activation of the UAU1 cassette in essential and non-essential genes can result in whole chromosome aneuploidy. UAU1 is often used to construct homozygous deletions of targeted genes in C. albicans; the exact mechanism (trisomy followed by chromosome loss versus gene conversion has not been determined. UAU1 insertion into the essential ORC1 gene resulted in a large proportion of trisomic strains, while gene conversion events predominated when UAU1 was inserted into the non-essential LRO1 gene. Therefore, induced aneuploidies can be used to generate HapMaps, which are essential for analyzing genome alterations and mitotic recombination events in this clonal organism.

  9. The Prognostic Value of Haplotypes in the Vascular Endothelial Growth Factor A Gene in Colorectal Cancer

    International Nuclear Information System (INIS)

    Hansen, Torben F.; Spindler, Karen-Lise G.; Andersen, Rikke F.; Lindebjerg, Jan; Kølvraa, Steen; Brandslund, Ivan; Jakobsen, Anders

    2010-01-01

    New prognostic markers in patients with colorectal cancer (CRC) are a prerequisite for individualized treatment. Prognostic importance of single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor A (VEGF-A) gene has been proposed. The objective of the present study was to investigate the prognostic importance of haplotypes in the VEGF-A gene in patients with CRC. The study included 486 patients surgically resected for stage II and III CRC, divided into two independent cohorts. Three SNPs in the VEGF-A gene were analyzed by polymerase chain reaction. Haplotypes were estimated using the PHASE program. The prognostic influence was evaluated using Kaplan-Meir plots and log rank tests. Cox regression method was used to analyze the independent prognostic importance of different markers. All three SNPs were significantly related to survival. A haplotype combination, responsible for this effect, was present in approximately 30% of the patients and demonstrated a significant relationship with poor survival, and it remained an independent prognostic marker after multivariate analysis, hazard ratio 2.46 (95% confidence interval 1.49–4.06), p < 0.001. Validation was provided by consistent findings in a second and independent cohort. Haplotype combinations call for further investigation

  10. Divergence at the casein haplotypes in dairy and meat goat breeds.

    Science.gov (United States)

    Küpper, Julia; Chessa, Stefania; Rignanese, Daniela; Caroli, Anna; Erhardt, Georg

    2010-02-01

    Casein genes have been proved to have an influence on milk properties, and are in addition appropriate for phylogeny studies. A large number of casein polymorphisms exist in goats, making their analysis quite complex. The four casein loci were analyzed by molecular techniques for genetic polymorphism detection in the two dairy goat breeds Bunte Deutsche Edelziege (BDE; n=96), Weisse Deutsche Edelziege (WDE; n=91), and the meat goat breed Buren (n=75). Of the 35 analyzed alleles, 18 were found in BDE, and 17 in Buren goats and WDE. In addition, a new allele was identified at the CSN1S1 locus in the BDE, showing a frequency of 0.05. This variant, named CSN1S1*A', is characterized by a t-->c transversion in intron 9. Linkage disequilibrium was found at the casein haplotype in all three breeds. A total of 30 haplotypes showed frequencies higher than 0.01. In the Buren breed only one haplotype showed a frequency higher than 0.1. The ancestral haplotype B-A-A-B (in the order: CSN1S1-CSN2-CSN1S2-CSN3) occurred in all three breeds, showing a very high frequency (>0.8) in the Buren.

  11. A class representative model for Pure Parsimony Haplotyping under uncertain data.

    Directory of Open Access Journals (Sweden)

    Daniele Catanzaro

    Full Text Available The Pure Parsimony Haplotyping (PPH problem is a NP-hard combinatorial optimization problem that consists of finding the minimum number of haplotypes necessary to explain a given set of genotypes. PPH has attracted more and more attention in recent years due to its importance in analysis of many fine-scale genetic data. Its application fields range from mapping complex disease genes to inferring population histories, passing through designing drugs, functional genomics and pharmacogenetics. In this article we investigate, for the first time, a recent version of PPH called the Pure Parsimony Haplotype problem under Uncertain Data (PPH-UD. This version mainly arises when the input genotypes are not accurate, i.e., when some single nucleotide polymorphisms are missing or affected by errors. We propose an exact approach to solution of PPH-UD based on an extended version of Catanzaro et al.[1] class representative model for PPH, currently the state-of-the-art integer programming model for PPH. The model is efficient, accurate, compact, polynomial-sized, easy to implement, solvable with any solver for mixed integer programming, and usable in all those cases for which the parsimony criterion is well suited for haplotype estimation.

  12. Author Details

    African Journals Online (AJOL)

    Ekaka-a, EN. Vol 16, No 2 (2012) - Articles Sensitivity Analysis of a Physiochemical Interaction Model Undergoing Changes in the Initial Condition and Duration of Experiment Time Abstract PDF · Vol 16, No 3 (2012) - Articles The Role of Numerical Methods in the Sensitivity Analysis of a Density Parameter in a Passivation ...

  13. Author Details

    African Journals Online (AJOL)

    Maboe, KA. Vol 19 (2013): Supplement 1 – September - Articles Video conference teaching at an Open Distance Learning (ODL) university in South Africa: Analysis of benefits and drawbacks. Abstract · Vol 21, No 3 (2015): Supplement 1 - Articles Analysis of Efficiency of Isoniazid Preventive Therapy Programme among ...

  14. Author Details

    African Journals Online (AJOL)

    Analysis of combined heat and mass transfer of water-vapor in a cylinderical zeolite adsorber. Abstract PDF · Vol 16 (1999) - Articles Analysis of combined heat and mass transfer of water- Vapor in a cylinderical zeolite adsorber. Abstract PDF · Vol 17 (2000) - Articles Minimum maintenance solar pump. Abstract PDF.

  15. Author Details

    African Journals Online (AJOL)

    Tan, K. Vol 9, No 6S (2017) - Articles Lower limb kinematics analysis during roundhouse kick among novices in muay thai. Abstract PDF · Vol 9, No 6S (2017) - Articles Kinetics analysis of step and jump forward lunge among badminton players. Abstract PDF. ISSN: 1112-9867. AJOL African Journals Online. HOW TO USE ...

  16. Author Details

    African Journals Online (AJOL)

    Kamarudin, M.K.A.. Vol 9, No 5S (2017): Special Issue - Articles Exposure level from selected base station tower around Kuala Nerus: a preliminary analysis. Abstract PDF · Vol 9, No 5S (2017): Special Issue - Articles Multi-criteria decision analysis integrated with GIS for radio astronomical observatory site selection in ...

  17. Author Details

    African Journals Online (AJOL)

    Quispe, M. D.. Vol 47, No 6 (2017) - Articles Development and preliminary validation of an automatic digital analysis system for animal fibre analysis. Abstract PDF. ISSN: 2221-4062. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

  18. Author Details

    African Journals Online (AJOL)

    Ashipu, KBC. Vol 7, No 2 (2010) - Articles A Socio-Stylistic Analysis of Some Selected Bette Dirges Abstract · Vol 2, No 1 (2011) - Articles A Pragmatic Analysis of Proverbial and Idiomatic Expressions in the Nigerian Print Media Abstract · Vol 2, No 1 (2010) - Articles Aspects of Subordination in English Syntax and its Use ...

  19. Author Details

    African Journals Online (AJOL)

    Huang, Yong. Vol 13, No 6 (2016) - Articles Imaging of brain function based on the analysis of functional connectivity - imaging analysis of brain function by fMRI after acupuncture at LR3 in healthy individuals. Abstract PDF. ISSN: 0189-6016. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for ...

  20. Author Details

    African Journals Online (AJOL)

    Berhanu, W. Vol 11 (1994) - Articles The Use of Models in Urban Space Pattern Analysis Abstract PDF · Vol 21 (2004) - Articles Real estate developments and the housing supply issue in Ethiopia - Case studies from Addis Ababa Abstract PDF · Vol 17 (2000) - Articles Comparative analysis of Scandinavian and Ethiopian ...

  1. Author Details

    African Journals Online (AJOL)

    Wang, Yanjie. Vol 13, No 6 (2016) - Articles Imaging of brain function based on the analysis of functional connectivity - imaging analysis of brain function by fMRI after acupuncture at LR3 in healthy individuals. Abstract PDF. ISSN: 0189-6016. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for ...

  2. Author Details

    African Journals Online (AJOL)

    Factors Affecting Time, Cost and Quality Management in Building Construction Projects Abstract · Vol 6, No 2 (2011) - Articles Assessment of Computer Software Usage for Estimating and Tender Analysis by Nigerian Quantity Surveyors Abstract · Vol 7, No 1 (2012) - Articles Analysis of Trends in Housing Construction Cost ...

  3. Author Details

    African Journals Online (AJOL)

    Bazezew, A. Vol 22 (2005) - Articles Creep analysis of boiler tubes by fem. Abstract PDF · Vol 23 (2006) - Articles Determination of the behaviour of transverse vibration of a Timoshenko beam with an open crack of uniform depth. Abstract PDF · Vol 24 (2007) - Articles Vibration analysis of low-aspect ratio rotating blade ...

  4. Space shuttle/food system study. Volume 2, Appendix G: Ground support system analysis. Appendix H: Galley functional details analysis

    Science.gov (United States)

    1974-01-01

    The capabilities for preflight feeding of flight personnel and the supply and control of the space shuttle flight food system were investigated to determine ground support requirements; and the functional details of an onboard food system galley are shown in photographic mockups. The elements which were identified as necessary to the efficient accomplishment of ground support functions include the following: (1) administration; (2) dietetics; (3) analytical laboratories; (4) flight food warehouse; (5) stowage module assembly area; (6) launch site module storage area; (7) alert crew restaurant and disperse crew galleys; (8) ground food warehouse; (9) manufacturing facilities; (10) transport; and (11) computer support. Each element is discussed according to the design criteria of minimum cost, maximum flexibility, reliability, and efficiency consistent with space shuttle requirements. The galley mockup overview illustrates the initial operation configuration, food stowage locations, meal assembly and serving trays, meal preparation configuration, serving, trash management, and the logistics of handling and cleanup equipment.

  5. Regional versus detailed velocity analysis to quantify hydrate and free gas in marine sediments : the south Shetland margin case study

    Energy Technology Data Exchange (ETDEWEB)

    Tinivella, U.; Loreto, M.F.; Accaino, F. [Inst. Nazionale di Oceanografia di Geofisica Sperimentale, Trieste (Italy)

    2008-07-01

    The presence of gas hydrate and free gas within marine sediments, deposited along the South Shetland margin, offshore the Antarctic Peninsula, was confirmed by low and high resolution geophysical data, acquired during three research cruises in 1989-1990. Seismic data analysis has demonstrated the presence of a bottom simulating reflector that is very strong and continuous in the eastern part of the margin. This seismic dataset was used in the past to extract detailed velocity information of the shallow structures by using traditional tomographic inversion and jointly tomographic inversion and pre-stack depth migration tool. This paper presented a method to obtain a regional seismic velocity field and information about hydrate and free gas presence in the marine sediments, by using an improved method of the standard analysis of the pre-stack depth migration output. The velocity field was obtained with a layer stripping approach and tomographic inversion of the reflections observed in common image gathering. The paper presented the seismic data and regional and detailed velocity analysis. The results of residual semblance analyses were also presented. Gas phase concentrations were then discussed. The velocity analysis revealed the presence of three main layers characterizing the first kilometer of sediments below the sea floor. In addition, velocity models and related gas-phase sections showed that gas was concentrated in different parts of the profile than where the hydrate was concentrated. This observation confirmed that geological structures and sedimentary processes controlled the gas and hydrate distribution, as observed along other margins. 7 refs., 5 figs.

  6. Author Details

    African Journals Online (AJOL)

    Sperm storage and duration of fertility in female ostriches (Struthio camelus) ... Genetic analysis of faecal worm egg count in South African Merinos under .... mating mass and average lifetime reproductive performance of Merino ewes in the ...

  7. Author Details

    African Journals Online (AJOL)

    Suspended silt and salinity tolerances of the first zoeal stage of the fiddler crab Uca annulipes ... Stable isotope analysis of consumer food webs indicates ecosystem recovery following prolonged drought in a subtropical estuarine lake

  8. Author Details

    African Journals Online (AJOL)

    Detection of Static Eccentricity Fault in Saturated Induction Motors by Air-Gap Magnetic Flux Signature Analysis Using Finite ... Detection of static eccentricity fault in PSH induction motor by using external magnetic flux density. Abstract PDF.

  9. Identification of the ancestral haplotype for apolipoprotein B suggests an African origin of Homo sapiens sapiens and traces their subsequent migration to Europe and the Pacific

    Energy Technology Data Exchange (ETDEWEB)

    Rapacz, J.; Hasler-Rapacz, J.O. (Univ. of Wisconsin, Madison (United States)); Chen, L.; Wu, Mingjiuan; Schumaker, V.N. (Univ. of California, Los Angeles (United States)); Butler-Brunner, E.; Butler, R. (Swiss Red Cross Blood Transfusion Service, Bern (Switzerland))

    1991-02-15

    The probable ancestral haplotype for human apolipoprotein B (apoB) has been identified through immunological analysis of chimpanzee and gorilla serum and sequence analysis of their DNA. Moreover, the frequency of this ancestral apoB haplotype among different human populations provides strong support for the African origin of Homo sapiens sapiens and their subsequent migration from Africa to Europe and to the Pacific. The approach used here for the identification of the ancestral human apoB haplotype is likely to be applicable to many other genes.

  10. Identification of the ancestral haplotype for apolipoprotein B suggests an African origin of Homo sapiens sapiens and traces their subsequent migration to Europe and the Pacific

    International Nuclear Information System (INIS)

    Rapacz, J.; Hasler-Rapacz, J.O.; Chen, L.; Wu, Mingjiuan; Schumaker, V.N.; Butler-Brunner, E.; Butler, R.

    1991-01-01

    The probable ancestral haplotype for human apolipoprotein B (apoB) has been identified through immunological analysis of chimpanzee and gorilla serum and sequence analysis of their DNA. Moreover, the frequency of this ancestral apoB haplotype among different human populations provides strong support for the African origin of Homo sapiens sapiens and their subsequent migration from Africa to Europe and to the Pacific. The approach used here for the identification of the ancestral human apoB haplotype is likely to be applicable to many other genes

  11. A spatial haplotype copying model with applications to genotype imputation.

    Science.gov (United States)

    Yang, Wen-Yun; Hormozdiari, Farhad; Eskin, Eleazar; Pasaniuc, Bogdan

    2015-05-01

    Ever since its introduction, the haplotype copy model has proven to be one of the most successful approaches for modeling genetic variation in human populations, with applications ranging from ancestry inference to genotype phasing and imputation. Motivated by coalescent theory, this approach assumes that any chromosome (haplotype) can be modeled as a mosaic of segments copied from a set of chromosomes sampled from the same population. At the core of the model is the assumption that any chromosome from the sample is equally likely to contribute a priori to the copying process. Motivated by recent works that model genetic variation in a geographic continuum, we propose a new spatial-aware haplotype copy model that jointly models geography and the haplotype copying process. We extend hidden Markov models of haplotype diversity such that at any given location, haplotypes that are closest in the genetic-geographic continuum map are a priori more likely to contribute to the copying process than distant ones. Through simulations starting from the 1000 Genomes data, we show that our model achieves superior accuracy in genotype imputation over the standard spatial-unaware haplotype copy model. In addition, we show the utility of our model in selecting a small personalized reference panel for imputation that leads to both improved accuracy as well as to a lower computational runtime than the standard approach. Finally, we show our proposed model can be used to localize individuals on the genetic-geographical map on the basis of their genotype data.

  12. Detailed Joint Region Analysis of the 7-Joint Ultrasound Score: Evaluation of an Arthritis Patient Cohort over One Year

    Directory of Open Access Journals (Sweden)

    S. Ohrndorf

    2013-01-01

    Full Text Available Objective. The main objective of this study was to evaluate the 7-joint ultrasound (US7 score by detailed joint region analysis of an arthritis patient cohort. Methods. The US7 score examines the clinically most affected wrist, MCP and PIP II, III, MTP II, and V joints for synovitis, tenosynovitis/paratenonitis, and erosions. Forty-five patients with rheumatoid arthritis (RA (84.4% and spondyloarthritis with polyarticular peripheral arthritis (PsA 13.3%; AS 2.2% with a median disease duration of 6.5 yrs (range 7.5 mths–47.6 yrs were included and examined at baseline and 3, 6, and 12 months after starting or changing therapy (DMARD/biologic. In this study, detailed US7 score joint region analysis was firstly performed. Results. The joint region analysis performed at baseline disclosed synovitis in 95.6% of affected wrists in the dorsal aspect by greyscale (GS US where Grade 2 (moderate was most often (48.9% detected. Palmar wrist regions presented Grade 1 (minor capsule elevation in 40% and Grade 2 (moderate synovitis in 37.8%. Tenosynovitis of the extensor carpi ulnaris (ECU tendon was found in 40%, with PD activity in 6.6%. Most of the erosions in MCP II were detected in the radial (68.9%, followed by the dorsal (48.9% and palmar (44.4% aspects. In MTP V, erosions were seen in 75.6% from lateral. Conclusions. Synovitis in GSUS was more often detected in the wrist in the dorsal than in the palmar aspect. ECU tendon involvement was frequent. Most erosions were found in the lateral scan of MTP V and the medial (radial scan of MCP II.

  13. Performance evaluation of contrast-detail in full field digital mammography systems using ideal (Hotelling) observer vs. conventional automated analysis of CDMAM images for quality control of contrast-detail characteristics.

    Science.gov (United States)

    Delakis, Ioannis; Wise, Robert; Morris, Lauren; Kulama, Eugenia

    2015-11-01

    The purpose of this work was to evaluate the contrast-detail performance of full field digital mammography (FFDM) systems using ideal (Hotelling) observer Signal-to-Noise Ratio (SNR) methodology and ascertain whether it can be considered an alternative to the conventional, automated analysis of CDMAM phantom images. Five FFDM units currently used in the national breast screening programme were evaluated, which differed with respect to age, detector, Automatic Exposure Control (AEC) and target/filter combination. Contrast-detail performance was analysed using CDMAM and ideal observer SNR methodology. The ideal observer SNR was calculated for input signal originating from gold discs of varying thicknesses and diameters, and then used to estimate the threshold gold thickness for each diameter as per CDMAM analysis. The variability of both methods and the dependence of CDMAM analysis on phantom manufacturing discrepancies also investigated. Results from both CDMAM and ideal observer methodologies were informative differentiators of FFDM systems' contrast-detail performance, displaying comparable patterns with respect to the FFDM systems' type and age. CDMAM results suggested higher threshold gold thickness values compared with the ideal observer methodology, especially for small-diameter details, which can be attributed to the behaviour of the CDMAM phantom used in this study. In addition, ideal observer methodology results showed lower variability than CDMAM results. The Ideal observer SNR methodology can provide a useful metric of the FFDM systems' contrast detail characteristics and could be considered a surrogate for conventional, automated analysis of CDMAM images. Copyright © 2015 Associazione Italiana di Fisica Medica. Published by Elsevier Ltd. All rights reserved.

  14. Oestrogen receptor α gene haplotype and postmenopausal breast cancer risk: a case control study

    International Nuclear Information System (INIS)

    Wedrén, Sara; Stiger, Fredrik; Persson, Ingemar; Baron, John; Weiderpass, Elisabete; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia; Melhus, Håkan; Syvänen, Ann-Christine; Kindmark, Andreas; Landegren, Ulf; Fermér, Maria Lagerström

    2004-01-01

    Oestrogen receptor α, which mediates the effect of oestrogen in target tissues, is genetically polymorphic. Because breast cancer development is dependent on oestrogenic influence, we have investigated whether polymorphisms in the oestrogen receptor α gene (ESR1) are associated with breast cancer risk. We genotyped breast cancer cases and age-matched population controls for one microsatellite marker and four single-nucleotide polymorphisms (SNPs) in ESR1. The numbers of genotyped cases and controls for each marker were as follows: TA n , 1514 cases and 1514 controls; c.454-397C → T, 1557 cases and 1512 controls; c.454-351A → G, 1556 cases and 1512 controls; c.729C → T, 1562 cases and 1513 controls; c.975C → G, 1562 cases and 1513 controls. Using logistic regression models, we calculated odds ratios (ORs) and 95% confidence intervals (CIs). Haplotype effects were estimated in an exploratory analysis, using expectation-maximisation algorithms for case-control study data. There were no compelling associations between single polymorphic loci and breast cancer risk. In haplotype analyses, a common haplotype of the c.454-351A → G or c.454-397C → T and c.975C → G SNPs appeared to be associated with an increased risk for ductal breast cancer: one copy of the c.454-351A → G and c.975C → G haplotype entailed an OR of 1.19 (95% CI 1.06–1.33) and two copies with an OR of 1.42 (95% CI 1.15–1.77), compared with no copies, under a model of multiplicative penetrance. The association with the c.454-397C → T and c.975C → G haplotypes was similar. Our data indicated that these haplotypes were more influential in women with a high body mass index. Adjustment for multiple comparisons rendered the associations statistically non-significant. We found suggestions of an association between common haplotypes in ESR1 and the risk for ductal breast cancer that is stronger in heavy women

  15. Correlation of contrast-detail analysis and clinical image quality assessment in chest radiography with a human cadaver study.

    Science.gov (United States)

    De Crop, An; Bacher, Klaus; Van Hoof, Tom; Smeets, Peter V; Smet, Barbara S; Vergauwen, Merel; Kiendys, Urszula; Duyck, Philippe; Verstraete, Koenraad; D'Herde, Katharina; Thierens, Hubert

    2012-01-01

    To determine the correlation between the clinical and physical image quality of chest images by using cadavers embalmed with the Thiel technique and a contrast-detail phantom. The use of human cadavers fulfilled the requirements of the institutional ethics committee. Clinical image quality was assessed by using three human cadavers embalmed with the Thiel technique, which results in excellent preservation of the flexibility and plasticity of organs and tissues. As a result, lungs can be inflated during image acquisition to simulate the pulmonary anatomy seen on a chest radiograph. Both contrast-detail phantom images and chest images of the Thiel-embalmed bodies were acquired with an amorphous silicon flat-panel detector. Tube voltage (70, 81, 90, 100, 113, 125 kVp), copper filtration (0.1, 0.2, 0.3 mm Cu), and exposure settings (200, 280, 400, 560, 800 speed class) were altered to simulate different quality levels. Four experienced radiologists assessed the image quality by using a visual grading analysis (VGA) technique based on European Quality Criteria for Chest Radiology. The phantom images were scored manually and automatically with use of dedicated software, both resulting in an inverse image quality figure (IQF). Spearman rank correlations between inverse IQFs and VGA scores were calculated. A statistically significant correlation (r = 0.80, P chest radiography. © RSNA, 2011.

  16. Minimal sharing of Y-chromosome STR haplotypes among five endogamous population groups from western and southwestern India.

    Science.gov (United States)

    Das, Birajalaxmi; Chauhan, P S; Seshadri, M

    2004-10-01

    We attempt to address the issue of genetic variation and the pattern of male gene flow among and between five Indian population groups of two different geographic and linguistic affiliations using Y-chromosome markers. We studied 221 males at three Y-chromosome biallelic loci and 184 males for the five Y-chromosome STRs. We observed 111 Y-chromosome STR haplotypes. An analysis of molecular variance (AMOVA) based on Y-chromosome STRs showed that the variation observed between the population groups belonging to two major regions (western and southwestern India) was 0.17%, which was significantly lower than the level of genetic variance among the five populations (0.59%) considered as a single group. Combined haplotype analysis of the five STRs and the biallelic locus 92R7 revealed minimal sharing of haplotypes among these five ethnic groups, irrespective of the similar origin of the linguistic and geographic affiliations; this minimal sharing indicates restricted male gene flow. As a consequence, most of the haplotypes were population specific. Network analysis showed that the haplotypes, which were shared between the populations, seem to have originated from different mutational pathways at different loci. Biallelic markers showed that all five ethnic groups have a similar ancestral origin despite their geographic and linguistic diversity.

  17. Fitchi: haplotype genealogy graphs based on the Fitch algorithm.

    Science.gov (United States)

    Matschiner, Michael

    2016-04-15

    : In population genetics and phylogeography, haplotype genealogy graphs are important tools for the visualization of population structure based on sequence data. In this type of graph, node sizes are often drawn in proportion to haplotype frequencies and edge lengths represent the minimum number of mutations separating adjacent nodes. I here present Fitchi, a new program that produces publication-ready haplotype genealogy graphs based on the Fitch algorithm. http://www.evoinformatics.eu/fitchi.htm : michaelmatschiner@mac.com Supplementary data are available at Bioinformatics online. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  18. SLC22A1-ABCB1 haplotype profiles predict imatinib pharmacokinetics in Asian patients with chronic myeloid leukemia.

    Directory of Open Access Journals (Sweden)

    Onkar Singh

    Full Text Available OBJECTIVE: This study aimed to explore the influence of SLC22A1, PXR, ABCG2, ABCB1 and CYP3A5 3 genetic polymorphisms on imatinib mesylate (IM pharmacokinetics in Asian patients with chronic myeloid leukemia (CML. PATIENTS AND METHODS: Healthy subjects belonging to three Asian populations (Chinese, Malay, Indian; n = 70 each and CML patients (n = 38 were enrolled in a prospective pharmacogenetics study. Imatinib trough (C(0h and clearance (CL were determined in the patients at steady state. Haplowalk method was applied to infer the haplotypes and generalized linear model (GLM to estimate haplotypic effects on IM pharmacokinetics. Association of haplotype copy numbers with IM pharmacokinetics was defined by Mann-Whitney U test. RESULTS: Global haplotype score statistics revealed a SLC22A1 sub-haplotypic region encompassing three polymorphisms (rs3798168, rs628031 and IVS7+850C>T, to be significantly associated with IM clearance (p = 0.013. Haplotype-specific GLM estimated that the haplotypes AGT and CGC were both associated with 22% decrease in clearance compared to CAC [CL (10(-2 L/hr/mg: CAC vs AGT: 4.03 vs 3.16, p = 0.017; CAC vs CGC: 4.03 vs 3.15, p = 0.017]. Patients harboring 2 copies of AGT or CGC haplotypes had 33.4% lower clearance and 50% higher C(0h than patients carrying 0 or 1 copy [CL (10(-2 L/hr/mg: 2.19 vs 3.29, p = 0.026; C(0h (10(-6 1/ml: 4.76 vs 3.17, p = 0.013, respectively]. Further subgroup analysis revealed SLC22A1 and ABCB1 haplotypic combinations to be significantly associated with clearance and C(0h (p = 0.002 and 0.009, respectively. CONCLUSION: This exploratory study suggests that SLC22A1-ABCB1 haplotypes may influence IM pharmacokinetics in Asian CML patients.

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    Venter, JMP. Vol 16, No 2 (2012) - Articles An analysis of the inter-relationship between savings product usage and satisfaction using a SERVQUAL framework. Abstract PDF · Vol 19, No 1 (2015): Special Edition - Articles MP Finance Group CC (In Liquidation) V C: SARS: Adding to the Financial Hardship of Victims of ...

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    Chakraborty, Shankar. Vol 4, No 2 (2012) - Articles A modified principal component analysis-based utility theory approach for optimization of correlated responses of EDM process. Abstract PDF. ISSN: 2141-2839. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More ...

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    Luna, AM. Vol 8, No 1 (2008) - Articles From Complementarity to Conflict: A Historical Analysis of Farmer-Fulbe Relations in West Africa Abstract PDF. ISSN: 1562-6997. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and ...

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    Mostert, K. Vol 21, No 1 (2007) - Articles Burnout and engagement in university students: A psychometric analysis of the MBI-SS and UWES-S Abstract. ISSN: 1011-3487. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and ...

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    Saleh, S. Vol 9, No 6S (2017) - Articles An analysis on compensation of claims regarding to personal Injury and loss of earning on several court cases. Abstract PDF. ISSN: 1112-9867. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Jasrotia, DS. Vol 7, No 3 (2015) - Articles Single crystal growth, x-ray structure analysis, optical band gap, raman spectra, strain tensor and photoluminscence properties in [HgCl4]- [R]+ and [ZnCl4]- [R]+ (R= 2-amino-5- chloropyridine) hybrid materials. Abstract PDF. ISSN: 1112-9867. AJOL African Journals Online. HOW TO ...

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    Abstract · Vol 19 (2013): Supplement 1 – September - Articles Effectiveness of problem-based learning among student nurses: A sytematic review (2005-2012) Abstract · Vol 19 (2013): Supplement 1 – September - Articles Video conference teaching at an Open Distance Learning (ODL) university in South Africa: Analysis of ...

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    Matlakala, MC. Vol 19 (2013): Supplement 1 – September - Articles Video conference teaching at an Open Distance Learning (ODL) university in South Africa: Analysis of benefits and drawbacks. Abstract. ISSN: 1117-4315. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors ...

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    Dissolved Gas Analysis (DGA) of natural ester oils under arcing faults. Abstract PDF · Vol 9, No 3S (2017): Special Issue - Articles Heart abnormality activity detection using Radial Basis Function (RBF) Abstract PDF · Vol 9, No 3S (2017): Special Issue - Articles Lightning impulse investigation on vegetables oils and ...

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    A Mathematical Model for Predicting Output in an Oilfield in the Niger Delta Area of Nigeria Abstract PDF · Vol 35, No 2 (2016) - Chemical, Industrial, Materials, Mechanical, Metallurgical, Petroleum & Production Engineering ANALYSIS OF FLOW IN A CONCENTRIC ANNULUS USING FINITE ELEMENT METHOD

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    Computer–Aided Design of the Critical Speed of Shafts Abstract PDF · Vol 12, No 4 (2008) - Articles Computer–Aided Design of the Critical Speed of Shafts Abstract PDF · Vol 20, No 4 (2016) - Articles Analysis of pressure variation of fluid in bounded circular reservoirs under the “No Flow” outer boundary condition

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    Abstract PDF · Vol 11, No 1 (2008) - Articles Development and Validation of a Liquid Chromatographic Method for the Simultaneous Analysis of Six Protease Inhibitors Using a Polymer Column Abstract PDF · Vol 11, No 2 (2008) - Articles Phytosterols from the stem bark of Combretum fragrans F. Hoffm Abstract PDF · Vol 11, ...

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    Idris, A. Vol 9, No 5S (2017): Special Issue - Articles Performance analysis of capacity based Coordinated Multipoint (CoMP) handover scheme in Long Term Evaluation-Advanced (LTE-A) network. Abstract PDF. ISSN: 1112-9867. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians ...

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    Interactive learning software for electrical engineering subjects using MATLAB and its GUI Abstract PDF · Vol 9, No 5S (2017): Special Issue - Articles Performance analysis of capacity based Coordinated Multipoint (CoMP) handover scheme in Long Term Evaluation-Advanced (LTE-A) network. Abstract PDF. ISSN: 1112- ...

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    Ameh, GI. Vol 10 (2006) - Articles Crassulacean acid metabolism in some succulent plants. Abstract · Vol 10 (2006) - Articles Growth analysis studies of some accessions of African yam bean, Sphenostylis stenocarpa (Hoechst, ex. A. Rich.) Harms Abstract. ISSN: 1119-2283. AJOL African Journals Online. HOW TO USE ...

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    Financing and delivery mechanisms for mosquito control tools in Sudan: A Strengths Weaknesses Opportunities and Threats (SWOT) analysis. Abstract · Vol 15, No 1 (2010) - Articles Health sector reform processes in Nigeria: A review of factors that have enabled or constrained policy implementation in Enugu and Anambra ...

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    Onwujekwe, OE. Vol 15, No 2 (2010) - Articles Socio-economic inequalities in cost of seeking treatment for malaria in south-east Nigeria ... Abstract · Vol 16, No 2 (2011) - Articles Financing and delivery mechanisms for mosquito control tools in Sudan: A Strengths Weaknesses Opportunities and Threats (SWOT) analysis.

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    Muthukrishnan, S. M.. Vol 9, No 4S (2017): Special Issue - Articles Systematic mapping review on student's performance analysis using big data predictive model. Abstract PDF. ISSN: 1112-9867. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL ...

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    Opafola, SO. Vol 1, No 1 (2010) - Articles The Basis of The 'Social – Market' Economy Abstract · Vol 1, No 2 (2010) - Articles Human Nature and the Social Order Abstract · Vol 5, No 1 (2014) - Articles Plato, Freud and Marx on Human Nature: A Comparative Analysis Abstract · Vol 5, No 1 (2014) - Articles The Debates in ...

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    Adekeye, AO. Vol 17, No 2 (2015) - Articles Sequence stratigraphy and structural analysis of the Emi field, offshore depobelt, eastern Niger Delta Basin, Nigeria Abstract PDF. ISSN: 0794-4896. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL ...

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    Abdullahi, S.L.. Vol 8, No 2 (2017) - Articles Comparative analysis on chemical composition of bentonite clays obtained from Ashaka and tango deposits in Gombe State, Nigeria Abstract PDF. ISSN: 2384-6028. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More ...

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    Mikre, F. Vol 3, No 1 (2007) - Articles Retrospective Analysis of Academic status of Female students in Jimma University Main Campus: from 1993 to 1997 E. C.. Abstract PDF · Vol 4, No 1 (2008) - Articles The Teacher Relationship Behaviour and Parenting Style Correlates of Students' Scholastic Achievement at Grade ...

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    Moseti, Okong'o Kelvin. Vol 12, No 8 (2013) - Articles Extraction and analysis of tea (Camellia sinensis) seed oil from different clones in Kenya Abstract PDF. ISSN: 1684-5315. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    Lesch, Elmien. Vol 12, No 1 (2000) - Articles AN ANALYSIS OF THE LIMITATIONS OF A BEHAVIOURAL PROGRAMME FOR BULLYING BOYS FROM A SUBECONOMIC ENVIRONMENT Abstract · Vol 26, No 1 (2014) - Articles Research Paper Positive and negative qualities of South African adolescents' parent and peer ...

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    Kikechi, RW. Vol 16, No 1 (2011) - Articles Comparative Analysis of Students' Direct Private Costs in Boarding and Day Secondary Schools in Kenya Abstract. ISSN: 1118-5570. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    Comparative Analysis of the Compressive Strength of Concrete with Gravel and Crushed Over Burnt Bricks as Coarse Aggregates ... Stratification in Waste Stabilization Ponds I: Effects on Pond Parameters ... Engineering CLASSICAL OPTIMIZATION OF BAGASSE ASH CONTENT IN CEMENT-STABILIZED LATERITIC SOIL

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    Akande, JM. Vol 15, No 2 (2015) - Articles Analysis of Button Bit Wear and Performance of Down-The-Hole Hammer Drill Abstract PDF. ISSN: 0855-210X. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of ...

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    Abu-Rub, H. Vol 1, No 1 (2009) - Articles Comparative performance analysis of Thyristor and IGBT based induction motor soft starters. Abstract PDF · Vol 2, No 10 (2010) - Articles Sensorless induction motor drive for electric vehicle application. Abstract PDF. ISSN: 2141-2839. AJOL African Journals Online. HOW TO USE ...

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    Obieke, CC. Vol 35, No 4 (2016) - Chemical, Industrial, Materials, Mechanical, Metallurgical, Petroleum & Production Engineering Failure analysis and shock protection of external hard disk drive. Abstract PDF. ISSN: 2467-8821. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians ...

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    Diffuse Solar System Design and Utilization in Agriculture and Domestic Applications Abstract · Vol 9, No 2 (2011) - Articles Operational Principle of Water Level Detector for Agricultural and Domestic Use Abstract · Vol 11, No 2 (2013) - Articles Egg incubator control system with short message service (sms) fault analysis ...

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    Mheta, Gift. Vol 35, No 3 (2017) - Articles A cognitive analysis of metaphor in Shona terminological dictionaries. Abstract. ISSN: 1727-9461. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact ...

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    Agaba, E I. Vol 5, No 1 (2007) - Articles Evaluation of Nutritional Status and Hydration in Patients on Chronic Hemodialysis by Bioelectrical Impedance Analysis Abstract · Vol 5, No 1 (2007) - Articles Clinical Trial Of Glimepiride Compared With Glibenclamide For Efficacy And Safety In Type 2 Diabetes Mellitus In Jos, Nigeria

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    Mohammed, M.I.. Vol 7, No 2 (2016) - Articles Quantification of total phenolic and flavonoid contents in Cassia Tora and Laptedenia Hastata leaves from seven irrigation areas of Kano State Nigeria Abstract PDF · Vol 7, No 2 (2016) - Articles Quantitative analysis of caffeine in some selected brands of energy drinks available ...

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    Ekwonwune, E. Vol 4, No 1 (2012) - Articles A Computational Analysis of the Negative Impact of Cigarette Smoking on Human Population In Imo State Abstract PDF · Vol 9, No 1 (2013) - Articles Assessing the Impact of Information Technology (WWW) on the attainment of Positive Corporate Image (PCI) to enhance ...

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    Motsamai, O.S. Vol 16, No 2 (2007) - Articles Thermal analysis of a kitchen natural ventilation system with computational fluid dynamics: a case study. Abstract. ISSN: 1019-1593. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    Saggar, K. Vol 13, No 3 (2014) - Articles Analysis of computed tomography features of fungal sinusitis and their correlation with nasal endoscopy and histopathology findings. Abstract PDF. ISSN: 1596-3519. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More ...

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    Gouda, A. Vol 10, No 2 (2009) - Articles Screening for phenylketonuria and galactosemia among Egyptian newborns in Menoufiya governorate. Abstract PDF · Vol 10, No 2 (2009) - Articles Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: Six years experience. Abstract PDF.

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    Tripathy, SC. Vol 3, No 5 (2011) - Articles Reliability analysis of wind embedded power generation system for Indian Scenario Abstract PDF. ISSN: 2141-2839. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and ...

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    Okatch, H. Vol 67 (2014) - Articles Analysis of Volatile Compounds in Khadi (an Unrecorded Alcohol Beverage) from Botswana by Gas Chromatography-Flame Ionization Detection (GC-FID) Abstract PDF · Vol 66 (2013) - Articles Extraction of Pesticides from Plants using Solid Phase Microextraction and QuEChERS

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    Onohaebi, Sunny. Vol 30 (2015) - Articles Load Flow Analysis of a 15Mva Injection Substation Abstract. ISSN: 1116-4336. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL · News.

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    Oshevire, Patrick. Vol 30 (2015) - Articles Load Flow Analysis of a 15Mva Injection Substation Abstract · Vol 30 (2015) - Articles Design and Construction of a Home Automation System Using a Smart Phone Abstract. ISSN: 1116-4336. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians ...

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    Galishnikova, V. V.. Vol 9, No 7S (2017) - Articles Forecasting the condition of petroleum impregnated load bearing concrete and reinforced concrete structures. Abstract PDF · Vol 9, No 7S (2017) - Articles A reliable method for the stability analysis of structures. Abstract PDF. ISSN: 1112-9867. AJOL African Journals Online.

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    Oguntoyinbo, FA. Vol 30, No 1 (2012) - Articles Development of Hazard Analysis Critical Control Points (HACCP) and Enhancement of Microbial Safety Quality during Production of Fermented Legume Based Condiments in Nigeria Abstract. ISSN: 0189-7241. AJOL African Journals Online. HOW TO USE AJOL.

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    Ukwamedua, Nelson Udoka. Vol 17, No 3 (2017) - Articles Philosophy and African Philosophy: A Conceptual Analysis Abstract PDF. ISSN: 1595-1413. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

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    Sokefun, AO. Vol 9, No 2 (2011) - Articles Customer Service and its Effect on the Banking Business in Nigeria Abstract · Vol 11, No 1 (2013) - Articles Comparative analysis of pre- and post- mergers and acquisitions results of Nigerian banks. Abstract. ISSN: 1596-8308. AJOL African Journals Online. HOW TO USE AJOL.

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    Qualitative content analysis from the lean construction perspective: A focus on supply chain management. Abstract PDF · Vol 19, No 1 (2012) - Articles Perceptions of the quality of low-income houses in South Africa: Defects and their causes. Abstract PDF · Vol 19, No 2 (2012) - Articles Infrastructure project performance in ...

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    Diaw, M., Ethiopia. Vol 15, No 1 (2001) - Articles Electrochemical behaviour of gold at the carbon paste electrode: application to the gold ore analysis. Abstract PDF. ISSN: 1726-801X. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Maakuu, B.T.. Vol 6, No 1 (2001) - Articles Determination of nuclear cross-section of 81Br (n,,,) Br82 reaction by thermal neutron irradiation of barium bromide processed and measured as HBr82. Abstract · Vol 6, No 1 (2001) - Articles Analysis of total hydrogen content in palm oil and palm kernel oil using thermal neutron ...

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    Abstract PDF · Vol 7, No 1 (2010) - Articles Development of a computer aided learning system for graphical analysis of continuous time control systems. Abstract PDF · Vol 8, No 2 (2011) - Articles Genetic algorithm-based precision tuning of digital P-I-D controller for second-order systems. Abstract PDF. ISSN: 2437-2110.

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    Mustapha, AB. Vol 18, No 1 (2010) - Articles Resource Use Efficiency in Rice Production in Jere Local Government Area of Borno State, Nigeria Abstract PDF · Vol 18, No 1 (2010) - Articles Analysis of Factors Influencing Labour Supplied to Non-Farm Sub-Sector by Households in Mubi North Local Government Area of ...

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    Piloting a national laboratory electronic programme status reporting system in Ekurhuleni health district, South Africa Abstract PDF · Vol 107, No 6 (2017) - Articles Analysis of HIV disease burden by calculating the percentages of patients with CD4 counts <100 cells/μL across 52 districts reveals hot spots for intensified ...

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    Temane, A. Vol 21, No 1 (2016) - Articles Facilitation of self-empowerment of women living with borderline personality disorder: A concept analysis. Abstract PDF. ISSN: 2071-9736. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    John, GR. Vol 1, No 4 (2001) - Articles Analysis of NOx reduction in diesel engines by air injection using stochastic. Abstract PDF. ISSN: 1607-9949. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

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    Adamo, Grace E. Vol 31, No 1 (2013) - Articles An analysis of students' slang terms for academic activities in a Nigerian university: A semiotic approach. Abstract. ISSN: 1607-3614. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    Botai, O.J.. Vol 5, No 3 (2016) - Articles Analysis of the performance of hydrogen maser clocks at the Hartebeesthoek Radio Astronomy Observatory Abstract PDF. ISSN: 2225-8531. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    Jiwaji, N.T.. Vol 1, No 1 (2016): Special Issue: Series D - Articles Investigation of quasi periodic signals of X-Ray bursts from neutron star AXP 1E2259+586 using Fourier analysis techniques. Abstract PDF · Vol 1, No 1 (2016): Special Issue: Series D - Articles Recognition of astronomy as an essential discipline at all levels of ...

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    Ibrahim, Z.A.. Vol 9, No 2S (2017): Special Issue - Articles Spectrum monitoring: Radio Frequency Interferences (RFI) profile for hydroxyl (OH) lines window. Abstract PDF · Vol 9, No 5S (2017): Special Issue - Articles Multi-criteria decision analysis integrated with GIS for radio astronomical observatory site selection in ...

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    Kola-Oladiji, KI. Vol 9, No 2 (2011) - Articles Effect of Pre-Treatments on the Germination Capacity and Early Growth of Dacryodes Edulis at Nursery Stage Abstract · Vol 12, No 2 (2014) - Articles Gender analysis of non-timber forest products (NTFPs) collection, processing and marreting in rural enclaves of Omo biosphere, ...

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    Okunrobo, LO. Vol 3, No 4 (2010) - Articles Phytochemical, Proximate and Metal Content Analysis of the Leaves of Psidium guajava Linn (Myrtaceae) Abstract PDF. ISSN: 1596-9819. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Guirassay, S. Vol 13, No 1 (2007): - Articles Traumatic Rupture of the Posterior Urethra. Analysis of 87 Cases at the Conakry University Hospital Abstract PDF. ISSN: 1110-5704. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners ...

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    Ezejideaku, EUC. Vol 5 (2008) - Articles A Stylistic Analysis Of The Language Of Political Campaigns In Nigeria: Evidence From The 2007 General Elections Abstract PDF. ISSN: 1597-474X. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's ...

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    Ubeku, EU. Vol 17 (2010) - Articles Dynamic Performances of Asynchronous Machines Abstract · Vol 18 (2011) - Articles Optimal Safety Earthing – Earth Electrode Sizing Using A Deterministic Approach Abstract · Vol 18 (2011) - Articles Sensitivity Analysis of a Horizontal Earth Electrode under Impulse Current Using a 2nd ...

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    Ashipu, KBC. Vol 2, No 1 (2011) - Articles A Pragmatic Analysis of Proverbial and Idiomatic Expressions in the Nigerian Print Media Abstract. ISSN: 2141-4343. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and ...

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    Adeogun, BK. Vol 29, No 2 (2010) - Research papers. Analysis of Fluvial Sediment Discharges into Kubanni Reservoir Abstract PDF. ISSN: 2467-8821. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of ...

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    Joshua, Stephen Muoki. Vol 9, No 4 (2010) - Articles A critical historical analysis of the South African Catholic Church's HIV/AIDS response between 2000 and 2005. Abstract. ISSN: 1608-5906. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL ...

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    Kaplan, M. Vol 83, No 4 (1993) - Articles Indications for colonoscopy An analysis based on indications and diagnostic yield. Abstract PDF. ISSN: 0256-95749. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions ...

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    Mshelia, EH. Vol 1, No 2 (2008) - Articles Phytochemical Analysis and Antibacterial Screening of Asparagus Flagellaris (Kunth) Bak used in The Traditional Treatment of Sexually Transmitted Diseases and Urinary Infections Abstract PDF. ISSN: 1998-0507. AJOL African Journals Online. HOW TO USE AJOL.

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    Sairkar, P. Vol 8, No 14 (2009) - Articles Genetic variability in Asparagus racemosus (Willd.) from Madhya Pradesh, India by random amplified polymorphic DNA Abstract PDF · Vol 8, No 17 (2009) - Articles RAPD analysis for genetic diversity of two populations of Mystus vittatus (Bloch) of Madhya Pradesh, India

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    Ijeoma, NB. Vol 2, No 3 (2013) - Articles Quality Service Delivery as a Competitive Weapon in Corporate Strategy: The Case of Zenith Bank of Nigeria Plc Abstract PDF · Vol 2, No 3 (2013) - Articles An Empirical Analysis of the Impact of Debt on the Nigerian Economy Abstract PDF. ISSN: 2227-5452. AJOL African Journals ...

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    Adepoju, GKA. Vol 5, No 1 (2008) - Articles The effects of advertising on sales in the pharmaceutical industry in Nigeria - A survey. Abstract · Vol 6, No 3 (2009) - Articles A critical analysis of the prospects and constraints to commercialization of indigenous pharmaceutical research and developments outputs in developing ...

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    Kinyua, GM. Vol 28 (2012): Series E - Articles Microsatellite analysis of selected Lablab purpureus genotypes in Kenya Abstract PDF. ISSN: 2305-2678. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of ...

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    Akinbile, CO. Vol 10 (2010) - Articles Comparative analysis of infiltration measurements of two irrigated soils in Akure, Nigeria Abstract. ISSN: 1596-3233. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of ...

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    Umoren, MA. Vol 35, No 1 (2016) - Computer, Telecommunications, Software, Electrical & Electronics Engineering ANALYSIS OF RAIN RATE AND RAIN ATTENUATION FOR EARTH-SPACE COMMUNICATION LINKS OVER UYO - AKWA IBOM STATE Abstract PDF · Vol 35, No 2 (2016) - Computer, Telecommunications, ...

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    Fwangyil, GA. Vol 1, No 2 (2012) - Articles Cradle to Grave: an Analysis of Female Oppression in Nawal El Saadawi.s Woman at Point Zero Abstract PDF. ISSN: 2227-5460. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms ...

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