WorldWideScience

Sample records for allelic imbalance studies

  1. Prostate Cancer Aggressiveness Locus on Chromosome 7832-q33 Identified by Linkage and Allelic Imbalance Studies

    Directory of Open Access Journals (Sweden)

    Phillippa J. Neville

    2002-01-01

    Full Text Available The biologic aggressiveness of prostate tumors is an important indicator of prognosis. Chromosome 7g32-q33 was recently reported to show linkage to more aggressive prostate cancer, based on Gleason score, in a large sibling pair study. We report confirmation and narrowing of the linked region using finer-scale genotyping. We also report a high frequency of allelic imbalance. (AI defined within this locus in a series of 48 primary prostate tumors from men unselected for family history or disease status. The highest frequency of AI was observed with adjacent markers D7S2531. (52% and D7S1804. (36%. These two markers delineated a common region of AI, with 24 tumors exhibiting interstitial AI involving one or both markers. The 1.1-Mb candidate region contains relatively few transcripts. Additionally, we observed positive associations between interstitial AI at D7S1804 and early age at diagnosis. (P=.03 as well as a high combined Gleason score and tumor stage. (P=.06. Interstitial AI at D7S2531 was associated with a positive family history of prostate cancer. (P=.05. These data imply that we have localized a prostate cancer tumor aggressiveness loci to chromosome 7832-q33 that is involved in familial and nonfamilial forms of prostate cancer.

  2. Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA

    OpenAIRE

    Wong, Kwong-Kwok; Tsang, Yvonne T.M.; Shen, Jianhe; Cheng, Rita S.; Chang, Yi-Mieng; Man, Tsz-Kwong; Lau, Ching C.

    2004-01-01

    Besides their use in mRNA expression profiling, oligonucleotide microarrays have also been applied to single-nucleotide polymorphism (SNP) and loss of heterozygosity (LOH) or allelic imbalance studies. In this report, we evaluate the reliability of using whole genome amplified DNA for analysis with an oligonucleotide microarray containing 11 560 SNPs to detect allelic imbalance and chromosomal copy number abnormalities. Whole genome SNP analyses were performed with DNA extracted from osteosar...

  3. AllelicImbalance: An R/ bioconductor package for detecting, managing, and visualizing allele expression imbalance data from RNA sequencing

    DEFF Research Database (Denmark)

    Gådin, Jesper R.; van't Hooft, Ferdinand M.; Eriksson, Per;

    2015-01-01

    the possible biases. Results: We present AllelicImblance, a software program that is designed to detect, manage, and visualize allelic imbalances comprehensively. The purpose of this software is to allow users to pose genetic questions in any RNA sequencing experiment quickly, enhancing the general utility...

  4. Allelic gene expression imbalance of bovine IGF2, LEP and CCL2 genes in liver, kidney and pituitary

    OpenAIRE

    Olbromski, R.; Siadkowska, E.; Żelazowska, B.; Zwierzchowski, L.

    2012-01-01

    Allelic expression imbalance (AEI) is an important genetic factor being the cause of differences in phenotypic traits that can be heritable. Studying AEI can be useful in searching for factors that modulate gene expression and help to understand molecular mechanisms underlying phenotypic changes. Although it was commonly recognized in many species and we know many genes show allelic expression imbalance, this phenomena was not studied on a larger scale in cattle. Using the pyrosequencing meth...

  5. Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations.

    Science.gov (United States)

    Tuch, Brian B; Laborde, Rebecca R; Xu, Xing; Gu, Jian; Chung, Christina B; Monighetti, Cinna K; Stanley, Sarah J; Olsen, Kerry D; Kasperbauer, Jan L; Moore, Eric J; Broomer, Adam J; Tan, Ruoying; Brzoska, Pius M; Muller, Matthew W; Siddiqui, Asim S; Asmann, Yan W; Sun, Yongming; Kuersten, Scott; Barker, Melissa A; De La Vega, Francisco M; Smith, David I

    2010-02-19

    Due to growing throughput and shrinking cost, massively parallel sequencing is rapidly becoming an attractive alternative to microarrays for the genome-wide study of gene expression and copy number alterations in primary tumors. The sequencing of transcripts (RNA-Seq) should offer several advantages over microarray-based methods, including the ability to detect somatic mutations and accurately measure allele-specific expression. To investigate these advantages we have applied a novel, strand-specific RNA-Seq method to tumors and matched normal tissue from three patients with oral squamous cell carcinomas. Additionally, to better understand the genomic determinants of the gene expression changes observed, we have sequenced the tumor and normal genomes of one of these patients. We demonstrate here that our RNA-Seq method accurately measures allelic imbalance and that measurement on the genome-wide scale yields novel insights into cancer etiology. As expected, the set of genes differentially expressed in the tumors is enriched for cell adhesion and differentiation functions, but, unexpectedly, the set of allelically imbalanced genes is also enriched for these same cancer-related functions. By comparing the transcriptomic perturbations observed in one patient to his underlying normal and tumor genomes, we find that allelic imbalance in the tumor is associated with copy number mutations and that copy number mutations are, in turn, strongly associated with changes in transcript abundance. These results support a model in which allele-specific deletions and duplications drive allele-specific changes in gene expression in the developing tumor.

  6. Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations.

    Directory of Open Access Journals (Sweden)

    Brian B Tuch

    Full Text Available Due to growing throughput and shrinking cost, massively parallel sequencing is rapidly becoming an attractive alternative to microarrays for the genome-wide study of gene expression and copy number alterations in primary tumors. The sequencing of transcripts (RNA-Seq should offer several advantages over microarray-based methods, including the ability to detect somatic mutations and accurately measure allele-specific expression. To investigate these advantages we have applied a novel, strand-specific RNA-Seq method to tumors and matched normal tissue from three patients with oral squamous cell carcinomas. Additionally, to better understand the genomic determinants of the gene expression changes observed, we have sequenced the tumor and normal genomes of one of these patients. We demonstrate here that our RNA-Seq method accurately measures allelic imbalance and that measurement on the genome-wide scale yields novel insights into cancer etiology. As expected, the set of genes differentially expressed in the tumors is enriched for cell adhesion and differentiation functions, but, unexpectedly, the set of allelically imbalanced genes is also enriched for these same cancer-related functions. By comparing the transcriptomic perturbations observed in one patient to his underlying normal and tumor genomes, we find that allelic imbalance in the tumor is associated with copy number mutations and that copy number mutations are, in turn, strongly associated with changes in transcript abundance. These results support a model in which allele-specific deletions and duplications drive allele-specific changes in gene expression in the developing tumor.

  7. Telomerase activity in high-grade cervical lesions is associated with allelic imbalance at 6Q14-22.

    NARCIS (Netherlands)

    Duin, van M.; Steenbergen, R.D.M.; Wilde, de J.; Helmerhorst, TJ; Verheijen, R.H.M.; Risse, E.K.J.; Meijer, C.J.L.M.; Snijders, P.J.F.

    2003-01-01

    Our study attempts to establish the relationship between telomerase activity and allelic imbalance (AI) on chromosomes 3p and 6 in high-risk HPV-containing cervical lesions. These chromosomes were implicated previously in telomerase regulation in HPV containing immortalized cells and cervical cancer

  8. Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents

    DEFF Research Database (Denmark)

    Birkbak, Nicolai J.; Wang, Zhigang C.; Kim, Ji-Young;

    2012-01-01

    DNA repair competency is one determinant of sensitivity to certain chemotherapy drugs, such as cisplatin. Cancer cells with intact DNA repair can avoid the accumulation of genome damage during growth and also can repair platinum-induced DNA damage. We sought genomic signatures indicative...... of defective DNA repair in cell lines and tumors and correlated these signatures to platinum sensitivity. The number of subchromosomal regions with allelic imbalance extending to the telomere (NtAI) predicted cisplatin sensitivity in vitro and pathologic response to preoperative cisplatin treatment in patients....... Thus, accumulation of telomeric allelic imbalance is a marker of platinum sensitivity and suggests impaired DNA repair. SIGNIFICANCE: Mutations in BRCA genes cause defects in DNA repair that predict sensitivity to DNA damaging agents, including platinum; however, some patients without BRCA mutations...

  9. Allelic expression imbalance of JAK2 V617F mutation in BCR-ABL negative myeloproliferative neoplasms.

    Directory of Open Access Journals (Sweden)

    Hye-Ran Kim

    Full Text Available The discovery of a single point mutation in the JAK2 gene in patients with BCR/ABL-negative myeloproliferative neoplasms (MPNs has not only brought new insights and pathogenesis, but also has made the diagnosis of MPNs much easier. Although, to date, several mechanisms for the contribution of single JAK2V617F point mutation to phenotypic diversity of MPNs have been suggested in multiple studies, but it is not clear how a unique mutation can cause the phenotypic diversity of MPNs. In this study, our results show that allelic expression imbalance of JAK2 V617F mutant frequently occurs and contributes to phenotypic diversity of BCR-ABL-negative MPNs. The proportion of JAK2 V617F mutant allele was significantly augmented in RNA levels as compared with genomic DNA differently by distinct MPNs subtypes. In detail, preferential expression of JAK2 mutant allele showed threefold increase from the cDNA compared with the genomic DNA from patients with essential thrombocythemia and twofold increase in polycythemia vera. In conclusion, allelic expression imbalance of JAK2 V617F mutant proposes another plausible mechanism for the contribution of single JAK2 point mutation to phenotypic diversity of MPNs.

  10. Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI frequently occur together in tumor cells.

    Directory of Open Access Journals (Sweden)

    Junichi Soh

    Full Text Available BACKGROUND: Activating mutations in one allele of an oncogene (heterozygous mutations are widely believed to be sufficient for tumorigenesis. However, mutant allele specific imbalance (MASI has been observed in tumors and cell lines harboring mutations of oncogenes. METHODOLOGY/PRINCIPAL FINDINGS: We determined 1 mutational status, 2 copy number gains (CNGs and 3 relative ratio between mutant and wild type alleles of KRAS, BRAF, PIK3CA and EGFR genes by direct sequencing and quantitative PCR assay in over 400 human tumors, cell lines, and xenografts of lung, colorectal, and pancreatic cancers. Examination of a public database indicated that homozygous mutations of five oncogenes were frequent (20% in 833 cell lines of 12 tumor types. Our data indicated two major forms of MASI: 1 MASI with CNG, either complete or partial; and 2 MASI without CNG (uniparental disomy; UPD, due to complete loss of wild type allele. MASI was a frequent event in mutant EGFR (75% and was due mainly to CNGs, while MASI, also frequent in mutant KRAS (58%, was mainly due to UPD. Mutant: wild type allelic ratios at the genomic level were precisely maintained after transcription. KRAS mutations or CNGs were significantly associated with increased ras GTPase activity, as measured by ELISA, and the two molecular changes were synergistic. Of 237 lung adenocarcinoma tumors, the small number with both KRAS mutation and CNG were associated with shortened survival. CONCLUSIONS: MASI is frequently present in mutant EGFR and KRAS tumor cells, and is associated with increased mutant allele transcription and gene activity. The frequent finding of mutations, CNGs and MASI occurring together in tumor cells indicates that these three genetic alterations, acting together, may have a greater role in the development or maintenance of the malignant phenotype than any individual alteration.

  11. CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data.

    Directory of Open Access Journals (Sweden)

    Rocco Piazza

    Full Text Available Copy number alterations (CNA are common events occurring in leukaemias and solid tumors. Comparative Genome Hybridization (CGH is actually the gold standard technique to analyze CNAs; however, CGH analysis requires dedicated instruments and is able to perform only low resolution Loss of Heterozygosity (LOH analyses. Here we present CEQer (Comparative Exome Quantification analyzer, a new graphical, event-driven tool for CNA/allelic-imbalance (AI coupled analysis of exome sequencing data. By using case-control matched exome data, CEQer performs a comparative digital exonic quantification to generate CNA data and couples this information with exome-wide LOH and allelic imbalance detection. This data is used to build mixed statistical/heuristic models allowing the identification of CNA/AI events. To test our tool, we initially used in silico generated data, then we performed whole-exome sequencing from 20 leukemic specimens and corresponding matched controls and we analyzed the results using CEQer. Taken globally, these analyses showed that the combined use of comparative digital exon quantification and LOH/AI allows generating very accurate CNA data. Therefore, we propose CEQer as an efficient, robust and user-friendly graphical tool for the identification of CNA/AI in the context of whole-exome sequencing data.

  12. FREQUENT ALLELIC IMBALANCE AND CYTOGENETIC DELETION ON THE SHORT ARM OF CHROMOSOME 1 IN NASOPHARYNGEAL CARCINOMA

    Institute of Scientific and Technical Information of China (English)

    黄铁军; 黄必军; 张林杰; 梁启万; 方燕

    2004-01-01

    Objective: To construct a fine map of the loss of chromosome lpter-p36.11 region in nasopharyngeal carcinoma (NPC) using PCR-LOH technique. Methods:DNA extracted from separated cancerous cells and their mated noncancerous lymphocytes from 47 cases of NPC biopsies were analyzed by means of PCR-LOH to detect 20loci spanning chromosome lpter-p36.11 region in NPC.Results: In 47 NPC cases, 37 (82.2%) cases showed at least one loci LOH. The highest frequency of less of heterozygosity (LOH) at all 20 loci was found at loci DIS234(50. 0%) on lp36.13 and loci DIS2644 (37.5%) on lp36.22.There was a statistically significant difference betweenDIS234 LOH frequency (60%, 9/15) in early stage and that (50. 0%, 8/16) in advanced stage (P>0.05). Of all 20 STSs (sequence tqgged-site, STS), DIS243 (37.5%) and DIS199(30.2%) showed the highest frequency of MI (microsatellite instability) on lp36.33 and lp36.21, respectively. In addition,several cases showed a contiguous stretch of allelic loss in a different level. Conclusion: Two minimal deletion regions (MDR) on the short arm of chromosome 1 were seated at lp36.13 (DIS234, 2.0 cm) and lp36.22 (DIS436-DIS2644, 6.3cm) respectively, indicating that one or more candidate tumor suppressor gene (TSG) in the two regions may be involved in NPC pathogenesis in an early clinical stage.

  13. Diagnostic Detection of Allelic Losses and Imbalances by Next-Generation Sequencing: 1p/19q Co-Deletion Analysis of Gliomas.

    Science.gov (United States)

    Dubbink, Hendrikus J; Atmodimedjo, Peggy N; van Marion, Ronald; Krol, Niels M G; Riegman, Peter H J; Kros, Johan M; van den Bent, Martin J; Dinjens, Winand N M

    2016-09-01

    Cancer cells are genomically unstable and accumulate tumor type-specific molecular aberrations, which may represent hallmarks for predicting prognosis and targets for therapy. Co-deletion of chromosomes 1p and 19q marks gliomas with an oligodendroglioma component and predicts a better prognosis and response to chemotherapy. In the current study, we present a novel method to detect chromosome 1p/19q co-deletion or loss of heterozygosity (LOH) in a diagnostic setting, based on single-nucleotide polymorphism (SNP) analysis and next-generation sequencing (NGS). We selected highly polymorphic SNPs distributed evenly over both chromosome arms. To experimentally determine the sensitivity and specificity of targeted SNP analysis, we used DNAs extracted from 49 routine formalin-fixed, paraffin-embedded glioma tissues and compared the outcome with diagnostic microsatellite-based LOH analysis and calculated estimates. We show that targeted SNP analysis by NGS allows reliable detection of 1p and/or 19q deletion in a background of 70% of normal cells according to calculated outcomes, is more sensitive than microsatellite-based LOH analysis, and requires much less DNA. This specific and sensitive SNP assay is broadly applicable for simultaneous allelic imbalance analysis of multiple genomic regions and can be incorporated easily into NGS mutation analyses. The combined mutation and chromosomal imbalance analysis in a single NGS assay is suited perfectly for routine glioma diagnostics and other diagnostic molecular pathology applications. PMID:27461031

  14. Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas.

    LENUS (Irish Health Repository)

    Gray, Sarah E

    2012-02-01

    BACKGROUND: The adenomatous polyposis coli (APC) gene is a tumor suppressor gene which is mutated in the hereditary disease, familial adenomatous polyposis (FAP). Somatic mutations of the APC gene have also been identified in the majority of sporadic colorectal carcinomas, and mutation of the APC gene appears to be an early step in the initiation of colon cancer. Loss of heterozygosity (LOH) of APC has been described in a variety of other cancer types, including renal cell carcinoma, gastric cancer, non-small cell lung cancer, endometrial cancer and oral squamous cell carcinomas (SCC). AIM: To determine the role played by APC gene in the genesis of cutaneous SCC. MATERIALS AND METHODS: Allelic imbalance\\/loss of heterozygosity (AI\\/LOH) was examined in twenty-two histologically confirmed cutaneous squamous cell carcinomas (SCC) using microsatellite markers, proximal to the APC gene. Immunohistochemical analysis of APC protein expression was also examined in the cutaneous SCC. RESULTS: AI\\/LOH was detected in 60% of the SCC samples using D5S346 marker (proximal to the APC gene). Ninty-five percent of the SCC samples showed positive reduced APC expression, however the localization of the APC protein was abnormal. CONCLUSION: The abnormal expression of APC suggests that APC gene may play a role in cutaneous SCC development.

  15. Allelic imbalance in oral lichen planus and assessment of its classification as a premalignant condition

    Science.gov (United States)

    Accurso, Brent T.; Warner, Blake M.; Knobloch, Thomas J.; Weghorst, Christopher M.; Shumway, Brian S.; Allen, Carl M.; Kalmar, John R.

    2012-01-01

    OLP is a relatively common immune-mediated mucosal condition with a predilection for middle-aged women. Although classified as a premalignant condition, this classification remains controversial. Using stringent diagnostic criteria, some authors have found that OLP patients are not at increased risk for oral SCC. Credible but limited genetic evidence also indicates that epithelial tissues from OLP patients diagnosed using stringent criteria differs from premalignant or malignant oral lesions but is similar to epithelium from benign oral lesions. To further investigate this genetic line of evidence, biopsy specimens diagnosed as fibroma, OLP, low-grade dysplasia, high-grade dysplasia, and SCC were retrieved from the archives of the Oral Pathology Consultants at the Ohio State University. Using laser capture microdissection, tissue of interest was captured from each case and DNA subsequently extracted. Fluorescently labeled PCR primers were used to amplify DNA at 3 tumor suppressor gene loci (3p14.2, 9p21, and 17p13) and evaluated for LOH or microsatellite instability (MSI). OLP was found to be significantly different from low-grade dysplasia, high-grade dysplasia, and SCC when LOH/MSI was found at more than 1 loci (P = .011, P = .032, P = .003), but not different from benign fibromas (P = .395). In agreement with previous studies, well-documented cases of OLP diagnosed using stringent criteria exhibit a genetic profile more similar to a benign or reactive process than a premalignant/malignant one. These findings do not support the classification of OLP as a premalignant condition. PMID:21764610

  16. Study on Relation between Dynamic Imbalance Degree and Product of Inertia

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xin-ming; WANG Li-ming; LIU Jian-he; ZHOU Hua-wen

    2008-01-01

    Based on the study of the relation between the dynamic imbalance degree and the product of inertia, a new static test method of the dynamic imbalance degree is presented. It is theoretically proved that the essence of the imbalance degree test for projectile body is the test of its product of inertia. A more precise calculation formula of dynamic imbalance degree is also given. The experiment results show that this method can not only reduce the cost of equipment, simplify the test procedures, save human resource, but also has more reliable test precision.

  17. Allelic imbalance modulates surface expression of the tolerance-inducing HLA-G molecule on primary trophoblast cells

    DEFF Research Database (Denmark)

    Djurisic, S; Teiblum, S; Tolstrup, Cæcilie Krogsgaard;

    2015-01-01

    The HLA-G molecule is expressed on trophoblast cells at the feto-maternal interface, where it interacts with local immune cells, and upholds tolerance against the semi-allogeneic fetus. Aberrant HLA-G expression in the placenta and reduced soluble HLA-G levels are observed in pregnancy...... complications, partly explained by HLA-G polymorphisms which are associated with differences in the alternative splicing pattern and of the stability of HLA-G mRNA. Of special importance is a 14 bp insertion/deletion polymorphism located in the 3'-untranslated region of the HLA-G gene. In the current study, we......RNA transcripts, which was further associated with low levels of HLA-G surface expression on primary trophoblast cells. Full gene sequencing of HLA-G allowed us to study correlations between HLA-G extended haplotypes and single-nucleotide polymorphisms and HLA-G surface expression. We found that a 1:1 expression...

  18. A comparative study of imbalance reduction strategies for virtual power plant operation

    International Nuclear Information System (INIS)

    The penetration of a large amount of distributed generation (DG) technologies with intermittent output, such as photovoltaic installations and wind turbines, yields an important challenge to the electric grid. It is believed that aggregating them with controllable technologies such as cogeneration devices (CHP) can help to balance fluctuations of renewable energy. This work evaluates the ability of a virtual power plant (VPP) to reduce the imbalance error of renewable generators. The study is undertaken in a VPP that consists of several cogeneration devices and photovoltaic (PV) installations. The virtual power plant operator bids electricity into the day-ahead market using the forecast for solar irradiation and for the thermal demand. During the actual day, the imbalance due to deviations between the forecasted electricity delivered and the real output has to be settled in the balancing market. Thus, in order to compensate these errors and possible economic drawbacks, the operation of the CHP is adjusted periodically in a so called reschedule. Two different rescheduling strategies are compared against a ‘reference scenario’ in which the imbalance error is settled in the market. The first one (‘forced strategy’) aims at reducing the imbalance error every time step regardless of the imbalance prices. The second (‘economic strategy’) considers the imbalance prices and takes only action if it is economically appropriate and thus intends to reduce the total operational cost. The results show that the rescheduling technique is able to reduce the imbalance error (up to 90% depending on the season and the strategy). Additionally, the total operational cost is estimated. However, the nowadays imbalance prices only lead to a minor financial advantage that is unlikely to motivate real life operators to perform a rescheduling strategy. - Highlights: • The VPP is dispatched by a day-ahead optimization followed by a rescheduling. • A forced rescheduling strategy

  19. Studies of generalized elemental imbalances in neurological disease patients using INAA [instrumental neutron activation analysis

    International Nuclear Information System (INIS)

    Evidence has been presented in the literature to implicate trace elements in the etiology of several age-related neurological diseases. Most of these studies are based on brain analyses. Using instrumental neutron activation analysis (INAA), we have observed trace element imbalances in brains of patients with Alzheimer's disease, amyotrophic lateral sclerosis (ALS), and Picks's disease. The most prevalent elemental imbalances found in the brain were for bromine, mercury, and the alkali metals. In this study the authors report INAA studies of trace elements in nonneural tissues from Alzheimer's disease and ALS patients. Samples from household relatives were collected for use as controls wherever possible. Hair samples were washed according to the International Atomic Energy Agency recommended procedure. Fingernail samples were scraped with a quartz knife prior to washing by the same procedure. For ALS patients, blood samples were also collected. These data indicate that elemental imbalances in Alzheimer's disease and ALS are not restricted to the brain. Many elements perturbed in the brain are also altered in the several nonneural tissues examined to date. The imbalances in different tissues, however, are not always in the same direction. The changes observed may represent causes, effects, or simply epiphenomena. Longitudinal studies of nonneural tissues and blood, as well as tissue microprobe analyses at the cellular and subcellular level, will be required in order to better assess the role of trace elements in the etiology of these diseases

  20. Allelic imbalance and cytogenetic deletion of 1p in colorectal adenomas: a target region identified between DIS199 and DIS234

    DEFF Research Database (Denmark)

    Bomme, L; Heim, S; Bardi, G;

    1998-01-01

    centromere 1 signals were invariably found. In the cases hybridized with the 1p-telomeric probe, we found the same frequencies of telomeric and centromeric signals, in agreement with the interpretation that the deletions were interstitial. One of the 53 adenomas had genomic instability, seen as new alleles...

  1. Studies of trace element imbalances in Alzheimer's disease using sequential NAA

    International Nuclear Information System (INIS)

    Evidence has accumulated in the literature that trace elements may be implicated in the etiology of Alzheimer's disease (AD) and other age-related neurological diseases. Even if elemental imbalances do not prove to be causative factors, observed perturbations may be markers that could aid in diagnosis, or help elucidate pathological processes. In this paper the authors present new data for trace element levels in three areas of the human brain most severely affected by AD (hippocampus, amygdala, and nucleus basalis) and in AD hair and nail samples. In some cases the specific imbalances seen previously in the bulk brain analyses are amplified in these regions. Elevated bromine levels seen in AD brain are also observed in AD hair and nail. Significant alkali metal and mercury imbalances with respect to controls occur in AD nail samples. The role of these trace element alterations in the etiology of AD has still not been determined. However, some possible physiological effects include: membrane dysfunction (alkali metals), enzyme inhibition (mercury and bromine), and interference with neurotransmitter functions (mercury, bromine, and alkali metals). The simultaneous multielement capability of this sequential NAA procedure also permits interelement correlation studies. Elemental associations may help identify potential environmental factors that could contribute to the observed trace element imbalances

  2. Effort-reward imbalance and overcommitment in employees in a Norwegian municipality: a cross sectional study

    OpenAIRE

    Lau Bjørn

    2008-01-01

    Abstract Background The aim of this study was to validate a Norwegian version of the Effort-Reward Imbalance Questionnaire (ERI-Q). Methods One thousand eight-hundred and three employees in a medium-sized Norwegian municipality replied to the ERI-Q, and health-related variables such as self-reported general health, psychological distress, musculoskeletal complaints, and work-related burnout were examined. Results Sound psychometric properties were found for this Norwegian version of the ERI-Q...

  3. Bayesian hierarchical models combining different study types and adjusting for covariate imbalances: a simulation study to assess model performance.

    Directory of Open Access Journals (Sweden)

    C Elizabeth McCarron

    Full Text Available BACKGROUND: Bayesian hierarchical models have been proposed to combine evidence from different types of study designs. However, when combining evidence from randomised and non-randomised controlled studies, imbalances in patient characteristics between study arms may bias the results. The objective of this study was to assess the performance of a proposed Bayesian approach to adjust for imbalances in patient level covariates when combining evidence from both types of study designs. METHODOLOGY/PRINCIPAL FINDINGS: Simulation techniques, in which the truth is known, were used to generate sets of data for randomised and non-randomised studies. Covariate imbalances between study arms were introduced in the non-randomised studies. The performance of the Bayesian hierarchical model adjusted for imbalances was assessed in terms of bias. The data were also modelled using three other Bayesian approaches for synthesising evidence from randomised and non-randomised studies. The simulations considered six scenarios aimed at assessing the sensitivity of the results to changes in the impact of the imbalances and the relative number and size of studies of each type. For all six scenarios considered, the Bayesian hierarchical model adjusted for differences within studies gave results that were unbiased and closest to the true value compared to the other models. CONCLUSIONS/SIGNIFICANCE: Where informed health care decision making requires the synthesis of evidence from randomised and non-randomised study designs, the proposed hierarchical Bayesian method adjusted for differences in patient characteristics between study arms may facilitate the optimal use of all available evidence leading to unbiased results compared to unadjusted analyses.

  4. New York State TrueAllele ® casework validation study.

    Science.gov (United States)

    Perlin, Mark W; Belrose, Jamie L; Duceman, Barry W

    2013-11-01

    DNA evidence can pose interpretation challenges, particularly with low-level or mixed samples. It would be desirable to make full use of the quantitative data, consider every genotype possibility, and objectively produce accurate and reproducible DNA match results. Probabilistic genotype computing is designed to achieve these goals. This validation study assessed TrueAllele(®) probabilistic computer interpretation on 368 evidence items in 41 test cases and compared the results with human review of the same data. Whenever there was a human result, the computer's genotype was concordant. Further, the computer produced a match statistic on 81 mixture items (for 87 inferred matching genotypes) in the test cases, while human review reported a statistic on 25 of these items (30.9%). Using match statistics to quantify information, probabilistic genotyping was shown to be sensitive, specific, and reproducible. These results demonstrate that objective probabilistic genotyping of biological evidence can reliably preserve DNA identification information.

  5. Fixed Sagittal Plane Imbalance

    OpenAIRE

    Savage, Jason W.; Patel, Alpesh A.

    2014-01-01

    Study Design Literature review. Objective To discuss the evaluation and management of fixed sagittal plane imbalance. Methods A comprehensive literature review was performed on the preoperative evaluation of patients with sagittal plane malalignment, as well as the surgical strategies to address sagittal plane deformity. Results Sagittal plane imbalance is often caused by de novo scoliosis or iatrogenic flat back deformity. Understanding the etiology and magnitude of sagittal malalignment is ...

  6. Allele Workbench: transcriptome pipeline and interactive graphics for allele-specific expression.

    Directory of Open Access Journals (Sweden)

    Carol A Soderlund

    Full Text Available Sequencing the transcriptome can answer various questions such as determining the transcripts expressed in a given species for a specific tissue or condition, evaluating differential expression, discovering variants, and evaluating allele-specific expression. Differential expression evaluates the expression differences between different strains, tissues, and conditions. Allele-specific expression evaluates expression differences between parental alleles. Both differential expression and allele-specific expression have been studied for heterosis (hybrid vigor, where the hybrid has improved performance over the parents for one or more traits. The Allele Workbench software was developed for a heterosis study that evaluated allele-specific expression for a mouse F1 hybrid using libraries from multiple tissues with biological replicates. This software has been made into a distributable package, which includes a pipeline, a Java interface to build the database, and a Java interface for query and display of the results. The required input is a reference genome, annotation file, and one or more RNA-Seq libraries with optional replicates. It evaluates allelic imbalance at the SNP and transcript level and flags transcripts with significant opposite directional allele-specific expression. The Java interface allows the user to view data from libraries, replicates, genes, transcripts, exons, and variants, including queries on allele imbalance for selected libraries. To determine the impact of allele-specific SNPs on protein folding, variants are annotated with their effect (e.g., missense, and the parental protein sequences may be exported for protein folding analysis. The Allele Workbench processing results in transcript files and read counts that can be used as input to the previously published Transcriptome Computational Workbench, which has a new algorithm for determining a trimmed set of gene ontology terms. The software with demo files is available

  7. Study of IQ imbalance effect in direct-detection optical OFDM systems

    Science.gov (United States)

    Li, Xinying; Shao, Yufeng; Zou, Shumin; Hou, Chunning; Zheng, Xi; Liu, Xiao; Zhang, Junwen; Fang, Wuliang; Chi, Nan

    2009-11-01

    In-phase/quadrature-phase (IQ) imbalance can result in severe performance degradation in optical direct-detection orthogonal-frequency-division-multiplexing (DD-OFDM) systems. We build two optical back-to-back DD-OFDM systems, which implement double-sideband (DSB) and single-sideband (SSB) modulation, respectively. The tolerance to IQ imbalance of these two systems is analyzed and compared using error vector magnitude (EVM) and symbol error rate (SER). We find that, in the back-to-back case, the DSB system has stronger robustness to IQ imbalance than the SSB System. We further build two optical DD-OFDM systems each with 40-km transmission, which respectively implement DSB and SSB transmission. Similarly, we analyze and compare the tolerance to IQ imbalance of these two systems in terms of EVM and SER. We find that, however, in the case of 40-km transmission, the SSB system has stronger robustness to IQ imbalance than the DSB system. As a result, we conclude that, in the case of transmission, SSB modulation can enhance the tolerance to IQ imbalance of DD-OFDM systems.

  8. Microsatellite allele dose and configuration establishment (MADCE): an integrated approach for genetic studies in allopolyploids

    NARCIS (Netherlands)

    Dijk, van T.; Noordijk, Y.; Dubos, T.; Bink, M.C.A.M.; Visser, R.G.F.; Weg, van de W.E.

    2012-01-01

    BACKGROUND: Genetic studies in allopolyploid plants are challenging because of the presence of similar sub-genomes, which leads to multiple alleles and complex segregation ratios. In this study, we describe a novel method for establishing the exact dose and configuration of microsatellite alleles fo

  9. Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis

    NARCIS (Netherlands)

    Niet, M. de; Weerdesteyn, V.G.M.; Bot, S.T. de; Warrenburg, B.P.C. van de; Geurts, A.C.H.

    2013-01-01

    OBJECTIVES: The contribution of spasticity to postural imbalance in patients with upper motor neuron syndrome is still unclear. This study aimed to evaluate the responses to support-surface perturbations in patients with hereditary spastic paraparesis (HSP). These patients typically suffer from bila

  10. Drivers of imbalance cost of wind power

    DEFF Research Database (Denmark)

    Obersteiner, C.; Siewierski, T.; Andersen, Anders

    2010-01-01

    varies in a wide range. To explain differences we indentify parameters influencing imbalance cost and compare them for case studies in Austria, Denmark and Poland. Besides the wind power forecast error also the correlation between imbalance and imbalance price influences imbalance cost significantly......In Europe an increasing share of wind power is sold on the power market. Therefore more and more wind power generators become balancing responsible and face imbalance cost that reduce revenues from selling wind power. A comparison of literature illustrates that the imbalance cost of wind power...... of imperfect forecast is better suited to reflect real cost incurred due to inaccurate wind power forecasts....

  11. Imbalance problem in community detection

    Science.gov (United States)

    Sun, Peng Gang

    2016-09-01

    Community detection gives us a simple way to understand complex networks' structures. However, there is an imbalance problem in community detection. This paper first introduces the imbalance problem and then proposes a new measure to alleviate the imbalance problem. In addition, we study two variants of the measure and further analyze the resolution scale of community detection. Finally, we compare our approach with some state of the art methods on random networks as well as real-world networks for community detection. Both the theoretical analysis and the experimental results show that our approach achieves better performance for community detection. We also find that our approach tends to separate densely connected subgroups preferentially.

  12. Oxidative Imbalance and Anxiety Disorders

    OpenAIRE

    R, Krolow; D. M, Arcego; C, Noschang; S. N, Weis; C, Dalmaz

    2014-01-01

    The oxidative imbalance appears to have an important role in anxiety development. Studies in both humans and animals have shown a strong correlation between anxiety and oxidative stress. In humans, for example, the increased malondialdehyde levels and discrepancies in antioxidant enzymes in erythrocytes have been observed. In animals, several studies also show that anxiety-like behavior is related to the oxidative imbalance. Moreover, anxiety-like behavior can be caused by pharmacological-ind...

  13. Fixed sagittal plane imbalance.

    Science.gov (United States)

    Savage, Jason W; Patel, Alpesh A

    2014-12-01

    Study Design Literature review. Objective To discuss the evaluation and management of fixed sagittal plane imbalance. Methods A comprehensive literature review was performed on the preoperative evaluation of patients with sagittal plane malalignment, as well as the surgical strategies to address sagittal plane deformity. Results Sagittal plane imbalance is often caused by de novo scoliosis or iatrogenic flat back deformity. Understanding the etiology and magnitude of sagittal malalignment is crucial in realignment planning. Objective parameters have been developed to guide surgeons in determining how much correction is needed to achieve favorable outcomes. Currently, the goals of surgery are to restore a sagittal vertical axis Sagittal plane malalignment is an increasingly recognized cause of pain and disability. Treatment of sagittal plane imbalance varies according to the etiology, location, and severity of the deformity. Fixed sagittal malalignment often requires complex reconstructive procedures that include osteotomy correction. Reestablishing harmonious spinopelvic alignment is associated with significant improvement in health-related quality-of-life outcome measures and patient satisfaction.

  14. HLA alleles associated with the adaptive immune response to smallpox vaccine: a replication study.

    Science.gov (United States)

    Ovsyannikova, Inna G; Pankratz, V Shane; Salk, Hannah M; Kennedy, Richard B; Poland, Gregory A

    2014-09-01

    We previously reported HLA allelic associations with vaccinia virus (VACV)-induced adaptive immune responses in a cohort of healthy individuals (n = 1,071 subjects) after a single dose of the licensed smallpox (Dryvax) vaccine. This study demonstrated that specific HLA alleles were significantly associated with VACV-induced neutralizing antibody (NA) titers (HLA-B*13:02, *38:02, *44:03, *48:01, and HLA-DQB1*03:02, *06:04) and cytokine (HLA-DRB1*01:03, *03:01, *10:01, *13:01, *15:01) immune responses. We undertook an independent study of 1,053 healthy individuals and examined associations between HLA alleles and measures of adaptive immunity after a single dose of Dryvax-derived ACAM2000 vaccine to evaluate previously discovered HLA allelic associations from the Dryvax study and determine if these associations are replicated with ACAM2000. Females had significantly higher NA titers than male subjects in both study cohorts [median ID50 discovery cohort 159 (93, 256) vs. 125 (75, 186), p smallpox vaccine-induced adaptive immune responses are significantly influenced by HLA gene polymorphisms. These data provide information for functional studies and design of novel candidate smallpox vaccines.

  15. Allelic association studies of genome wide association data can reveal errors in marker position assignments

    Directory of Open Access Journals (Sweden)

    Curtis David

    2007-06-01

    Full Text Available Abstract Background Genome wide association (GWA studies provide the opportunity to develop new kinds of analysis. Analysing pairs of markers from separate regions might lead to the detection of allelic association which might indicate an interaction between nearby genes. Methods 396,591 markers typed in 541 subjects were studied. 7.8*1010 pairs of markers were screened and those showing initial evidence for allelic association were subjected to more thorough investigation along with 10 flanking markers on either side. Results No evidence was detected for interaction. However 6 markers appeared to have an incorrect map position according to NCBI Build 35. One of these was corrected in Build 36 and 2 were dropped. The remaining 3 were left with map positions inconsistent with their allelic association relationships. Discussion Although no interaction effects were detected the method was successful in identifying markers with probably incorrect map positions. Conclusion The study of allelic association can supplement other methods for assigning markers to particular map positions. Analyses of this type may usefully be applied to data from future GWA studies.

  16. Linking hospital workers' organisational work environment to depressive symptoms: A mediating effect of effort-reward imbalance? The ORSOSA study.

    Science.gov (United States)

    Jolivet, Anne; Caroly, Sandrine; Ehlinger, Virgine; Kelly-Irving, Michelle; Delpierre, Cyrille; Balducci, Franck; Sobaszek, Annie; De Gaudemaris, Régis; Lang, Thierry

    2010-08-01

    Few studies have analysed the association between the organisational work environment and depression in hospital workers and we still have little understanding of how processes in the practice environment are related to depressive disorders. However, individual perception of an imbalance between efforts made and expected rewards has been associated with incident depression. The main goal of this study was to test the hypothesis that some organisational constraints at the work-unit level may be related to depressive symptoms in hospital workers, either directly or through individual perceptions of effort-reward imbalance (ERI). In 2006, 3316 female registered nurses and nursing aids working in 190 work units in seven French university hospitals, recruited from the baseline screening of an epidemiological cohort study (the ORSOSA study), responded in 2006 to valid self-report questionnaires (CES-D, ERI). The organisational work environment was assessed with the self-rated Nursing Work Index - Extended Organisation (NWI-EO) aggregated at the work unit level. Multilevel models were used. We found that poor relations between workers within work units were associated with higher CES-D score, independently of perceived ERI. Low level of communication between workers in the unit was associated with individual perceptions of ERI and indirectly associated with depressive symptoms. Understaffing and non-respect of planned days off and vacations were associated with perceived ERI but these organisational constraints were not associated with depressive symptoms. Our study allowed us to identify and quantify organisational factors that have a direct effect on hospital workers' depressive symptoms, or an indirect effect through perceived ERI. Better understanding of the effect of organisational factors on health through perceived ERI would provide targets for successful interventions. Organisational approaches may be more effective in improving mental health at work and may also

  17. Interaction of ACTN3 gene polymorphism and muscle imbalance effects on kinematic efficiency in combat sports athletes

    Science.gov (United States)

    Lee, Namju; Park, Sok

    2016-01-01

    [Purpose] The purpose of this study was to determine the interaction of ACTN3 gene polymorphism and muscle imbalance effects on kinematic efficiency changes in combat sports athletes. [Methods] Six types of combat sports athletes (Judo, Taekwondo, boxing, kendo, wrestling, and Korean Ssi-reum) participated in the study. ATCN3 gene polymorphism and muscle imbalance in lower extremity were evaluated followed by analysis of differences of moment in hip, knee, and ankle joint during V-cut jumping and stop. To examine the moment difference due to an interaction of ATCN3 polymorphism and muscle imbalance, all participants were divided into 4 groups (R+MB, R+MIB, X+MB, and X+MIB). [Results] There was no significant difference of hip, knee, and ankle joint moment in R allele and X allele during V-cut jumping and stop based on ACTN3 gene polymorphism. Otherwise, muscle imbalance of knee moment in X-axis and ground reaction force of knee in Z-axis showed a higher significance in muscle imbalance during V-cut jumping and stop compared to muscle balance (p<0.05). In addition, joint analysis showed that muscle imbalance in X allele group had significantly higher knee moment of V-cut ground reaction force in X-axis and higher ankle moment of jumping ground reaction force in X and Z-axis compared to muscle balance with R and/or X group (p <0.05). [Conclusion] This study confirmed that muscle imbalance in lower extremity of combat athletes might induce higher risk factors of sports injury incidence than genetic factor and training might reduce the ratio of sports injury risk incidence. PMID:27508148

  18. A Theoretical Framework for Association Studies in F2 Family Pools Using Allele Frequencies from Genotyping-By-Sequencing

    DEFF Research Database (Denmark)

    Janss, Luc L; Ashraf, Bilal H; Greve-Pedersen, Morten;

    a sequencing approach to obtain Single Nucleotide Polymorphisms (SNPs) frequencies is considered here. In this work we develop the theoretical framework to perform association studies using allele frequencies from such F2 family pools. We show that expected allele frequencies in the F2 families will have...

  19. The association of effort-reward imbalance and asthma: findings from two cross-sectional studies

    NARCIS (Netherlands)

    A. Loerbroks; R.M. Herr; J. Li; J.A. Bosch; M. Seegel; M. Schneider; P. Angerer; B. Schmidt

    2014-01-01

    Purpose: There is evidence to suggest that work stress is positively associated with the occurrence of asthma. A limitation is that the small number of prior studies utilized unestablished work stress measures, thus constraining interpretation and generalizability. The present study re-examined this

  20. Gender imbalance in infant mortality: a cross-national study of social structure and female infanticide.

    Science.gov (United States)

    Fuse, Kana; Crenshaw, Edward M

    2006-01-01

    Sex differentials in infant mortality vary widely across nations. Because newborn girls are biologically advantaged in surviving to their first birthday, sex differentials in infant mortality typically arise from genetic factors that result in higher male infant mortality rates. Nonetheless, there are cases where mortality differentials arise from social or behavioral factors reflecting deliberate discrimination by adults in favor of boys over girls, resulting in atypical male to female infant mortality ratios. This cross-national study of 93 developed and developing countries uses such macro-social theories as modernization theory, gender perspectives, human ecology, and sociobiology/evolutionary psychology to predict gender differentials in infant mortality. We find strong evidence for modernization theory, human ecology, and the evolutionary psychology of group process, but mixed evidence for gender perspectives.

  1. Are chromosomal imbalances important in cancer?

    Science.gov (United States)

    Stallings, Raymond L

    2007-06-01

    Tumor-specific patterns of large-scale chromosomal imbalances characterize most forms of cancer. Based on evidence primarily from neuroblastomas, it can be argued that large-scale chromosomal imbalances are crucial for tumor pathogenesis and have an impact on the global transcriptional profile of cancer cells, and that some imbalances even initiate cancer. The genes and genetic pathways that have been dysregulated by such imbalances remain surprisingly elusive. Many genes are affected by the regions of gain and loss, and there are complex interactions and relationships that occur between these genes, hindering their identification. The study of untranslated RNA sequences, such as microRNAs, is in its infancy, and it is likely that such sequences are also dysregulated by chromosomal imbalance, contributing to pathogenesis.

  2. Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women.

    Science.gov (United States)

    Polimanti, Renato; Kranzler, Henry R; Gelernter, Joel

    2016-10-01

    To identify novel traits associated with alleles known to predispose to alcohol and nicotine use, we conducted a phenome-wide association study (PheWAS) in a large multi-population cohort. We investigated 7688 African-Americans, 1133 Asian-Americans, 14 081 European-Americans, and 3492 Hispanic-Americans from the Women's Health Initiative, analyzing alleles at the CHRNA3-CHRNA5 locus, ADH1B, and ALDH2 with respect to phenotypic traits related to anthropometric characteristics, dietary habits, social status, psychological traits, reproductive history, health conditions, and nicotine/alcohol use. In ADH1B trans-population meta-analysis and population-specific analysis, we replicated prior associations with drinking behaviors and identified multiple novel phenome-wide significant and suggestive findings related to psychological traits, socioeconomic status, vascular/metabolic conditions, and reproductive health. We then applied Bayesian network learning algorithms to provide insight into the causative relationships of the novel ADH1B associations: ADH1B appears to affect phenotypic traits via both alcohol-mediated and alcohol-independent effects. In an independent sample of 2379 subjects, we also replicated the novel ADH1B associations related to socioeconomic status (household gross income and highest grade finished in school). For CHRNA3-CHRNA5 risk alleles, we replicated association with smoking behaviors, lung cancer, and asthma. There were also novel suggestive CHRNA3-CHRNA5 findings with respect to high-cholesterol-medication use and distrustful attitude. In conclusion, the genetics of alcohol and tobacco use potentially has broader implications on physical and mental health than is currently recognized. In particular, ADH1B may be a gene relevant for the human phenome via both alcohol metabolism-related mechanisms and other alcohol metabolism-independent mechanisms. PMID:27187070

  3. Groin Pain and Muscular Imbalance of Quadriceps and Hamstrings in an Elite Soccer Player - A Case Study.

    Science.gov (United States)

    Ludwig, O; Kelm, J

    2016-08-01

    Soccer and football players are exposed to a high risk of groin pain. In some cases, the pubic symphysis is the origin of the problems.This article presents a case report of a young elite soccer player who, over a period of two years, suffered from pain in the groin and symphysis area. The right leg was the kicking leg. Imaging techniques did not reveal pathological findings. Sports hernia, osteomyelitis, enthesopathy, adductor tendonitis, and muscle sprains, as well as rheumatic or urogenital disorders were excluded.A 3 D posture analysis was performed to examine the statics of the body and pelvis. The maximum isometric strength of the left and right leg adductors and abductors, as well as the knee flexors and extensors were measured.We found a muscular imbalance resulting from the type of sport the athlete engaged in with an unfavourable ratio between the right knee extensor and flexor muscles. Comparing sides, an imbalance was also identified between the right and left knee extensor. This imbalance resulted in a one-sided forward tilt of the right hemi-pelvis. This pelvic torsion may lead to an increase in shear forces in the pubic symphysis, which we suspected to be the reason for the recurring problems.After three months of specific training exercises, the pelvic position was harmonised and the muscular imbalances were significantly reduced. Even 6 months after completion of the specific training exercises, the player remained without complaints despite his unvaried soccer training intensity.Causal treatment of functional pain in the groin or symphysis area should take into account the ipsilateral and contralateral strength ratios of the knee extensors and flexors as well as the three-dimensional position of the pelvis. PMID:27490356

  4. Whose choice is it? : gender imbalance in vocational school - a case study in Yunnan finance and economics school

    OpenAIRE

    2009-01-01

    Gender is one of the central organizing principles around which social life revolves. Gender imbalance in education is linked with social, cultural, historical, economic and political factors. Although there are a set of laws to protect women’s rights and the Chinese government has been improving the social status of women, emphasizing the equality of men and women in both public and domestic sphere, China is no exception in terms of gender inequality in education field and labor market. For ...

  5. Effort-reward imbalance at work is predicted by temporal and energetic characteristics of behavior: A population-based study

    Directory of Open Access Journals (Sweden)

    Taina Hintsa

    2013-06-01

    Full Text Available Objective: Personality dispositions may influence perceptions of work stress. The paper examines the relationship between temperament in terms of Strelau's Regulative Theory of Temperament and the effort-reward imbalance and its components. Material and Methods: There were 890 participants (360 men aged 37.9 years on average. Temperament traits of briskness and perseveration (temporal characteristics of behavior, sensory sensitivity, emotional reactivity, endurance and activity (energetic characteristics of behavior were measured by Strelau & Zawadzki's Formal Characteristics of Behavior-Temperament Inventory (FCB-TI in 1997 and 2001. Effort and reward at work were assessed with the original effortreward imbalance (ERI questionnaire of 2007. Results: Higher ERI at work was predicted by higher emotional reactivity, higher perseveration, lower briskness, and lower endurance. Higher effort and lower rewards at work were predicted by higher perseveration and lower endurance. The FCB-TI temperament characteristics accounted for 5.2%, 4.8% and 6.5% of the variance in the ERI, effort and reward, respectively. Lower emotional reactivity, lower perseveration, higher briskness and higher endurance predicted higher esteem at work, job promotion and job security. Conclusions: Individual differences in arousability, reflected in temporal and energetic characteristics of behavior, may predispose to or to protect from an effort-reward imbalance at work. Individual differences should be acknowledged in work stress prevention and developing interventions.

  6. Imbalance in the health workforce

    Directory of Open Access Journals (Sweden)

    Stilwell Barbara

    2004-09-01

    Full Text Available Abstract Imbalance in the health workforce is a major concern in both developed and developing countries. It is a complex issue that encompasses a wide range of possible situations. This paper aims to contribute not only to a better understanding of the issues related to imbalance through a critical review of its definition and nature, but also to the development of an analytical framework. The framework emphasizes the number and types of factors affecting health workforce imbalances, and facilitates the development of policy tools and their assessment. Moreover, to facilitate comparisons between health workforce imbalances, a typology of imbalances is proposed that differentiates between profession/specialty imbalances, geographical imbalances, institutional and services imbalances and gender imbalances.

  7. Current status and prospects of studies on human genetic alleles associated with hepatitis B virus infection

    Institute of Scientific and Technical Information of China (English)

    Fu-Sheng Wang

    2003-01-01

    effects of host genetic factors on HBV clearance and persistence. Since genetic interactions are complex, it is unlikely that a single allelic variant is responsible for HBV resistance or susceptibility. However, the collective influence of several single nucleotide polymorphisms (SNPs) or haplotype (s)may underlie the natural combinational or synergistic protection against HBV. The future study including the multicohort collaboration will be needed to clarify these preliminary associations and identify other potential candidate genes.The ongoing study of the distributions and functions of the implicated allele polymorphisms will not only provide insight into the pathogenesis of HBV infection, but may also provide a novel rationale for new methods of diagnosis and therapeutic strategies.

  8. A study of allelic polymorphism of four short tandem repeats in the population of northwestern Russia

    Energy Technology Data Exchange (ETDEWEB)

    Aseev, M.V.; Skakun, V.N.; Baranov, V.S. [Ott Institute of Obstetrics and Gynecology, St. Petersburg (Russian Federation)

    1995-06-01

    Characteristics of the allelic polymorphisms of the trimeric AGC repeat of the androgen receptor gene (Xq11-12), exon 1 (AR); the tetrameric ATCT repeat of the von Willebrand factor gene (12p12), intron 40 (vWF); the AGAT repeat of the hypoxanthine phosphoribosyltransferase gene (Xq26) (HPRT); and the AGAT repeat of anonymous DNA sequences of the short arm of chromosome X (STRX1) were studied in 160 DNA samples from unrelated inhabitants of northwestern Russia using the method of polymerase chain reaction. Seventeen, ten, eight, and nine alleles were revealed electrophoretically for short tandem repeats of AR, vWF, HPRT, and STRX1, respectively. The heterozygosity indices for these repeats were 0.80, 0.70, 0.54, and 0.58, respectively. The values for AR and vWF correlated with those expected according to the Hardy-Weinberg equilibrium, whereas the values for HPRT and STRX1 differed significantly from those theoretically expected. The individualization potentials were 0.045, 0.135, 0.095, and 0.061 for the short tandem repeats of AR, vWF, HPRT, and STRX1, respectively. The distribution of genotypes for the set of these four loci in the population studied was determined. The possibilities of using the studied polymorphic marker systems in molecular diagnosis of the corresponding monogenic diseases - spinal and bulbar muscle atrophy (AR), Lesch-Nyhan disease (HPRT), and von Willebrand disease (vWF) - as well as in population human genetics, testing of personal identity, and molecular approaches to the estimation of mutagenic activity are discussed. 17 refs., 2 figs., 6 tabs.

  9. Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies.

    Directory of Open Access Journals (Sweden)

    2006-05-01

    Full Text Available Upstream transcription factor 1 (USF1 is a ubiquitously expressed transcription factor controlling several critical genes in lipid and glucose metabolism. Of some 40 genes regulated by USF1, several are involved in the molecular pathogenesis of cardiovascular disease (CVD. Although the USF1 gene has been shown to have a critical role in the etiology of familial combined hyperlipidemia, which predisposes to early CVD, the gene's potential role as a risk factor for CVD events at the population level has not been established. Here we report the results from a prospective genetic-epidemiological study of the association between the USF1 variants, CVD, and mortality in two large Finnish cohorts. Haplotype-tagging single nucleotide polymorphisms exposing all common allelic variants of USF1 were genotyped in a prospective case-cohort design with two distinct cohorts followed up during 1992-2001 and 1997-2003. The total number of follow-up years was 112,435 in 14,140 individuals, of which 2,225 were selected for genotyping based on the case-cohort study strategy. After adjustment for conventional risk factors, we observed an association of USF1 with CVD and mortality among females. In combined analysis of the two cohorts, female carriers of a USF1 risk haplotype had a 2-fold risk of a CVD event (hazard ratio [HR] 2.02; 95% confidence interval [CI] 1.16-3.53; p = 0.01 and an increased risk of all-cause mortality (HR 2.52; 95% CI 1.46-4.35; p = 0.0009. A putative protective haplotype of USF1 was also identified. Our study shows how a gene identified in exceptional families proves to be important also at the population level, implying that allelic variants of USF1 significantly influence the prospective risk of CVD and even all-cause mortality in females.

  10. Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping.

    Science.gov (United States)

    Light, Nicholas; Adoue, Véronique; Ge, Bing; Chen, Shu-Huang; Kwan, Tony; Pastinen, Tomi

    2014-09-01

    Allele-specific (AS) assessment of chromatin has the potential to elucidate specific cis-regulatory mechanisms, which are predicted to underlie the majority of the known genetic associations to complex disease. However, development of chromatin landscapes at allelic resolution has been challenging since sites of variable signal strength require substantial read depths not commonly applied in sequencing based approaches. In this study, we addressed this by performing parallel analyses of input DNA and chromatin immunoprecipitates (ChIP) on high-density Illumina genotyping arrays. Allele-specificity for the histone modifications H3K4me1, H3K4me3, H3K27ac, H3K27me3, and H3K36me3 was assessed using ChIP samples generated from 14 lymphoblast and 6 fibroblast cell lines. AS-ChIP SNPs were combined into domains and validated using high-confidence ChIP-seq sites. We observed characteristic patterns of allelic-imbalance for each histone-modification around allele-specifically expressed transcripts. Notably, we found H3K4me1 to be significantly anti-correlated with allelic expression (AE) at transcription start sites, indicating H3K4me1 allelic imbalance as a marker of AE. We also found that allelic chromatin domains exhibit population and cell-type specificity as well as heritability within trios. Finally, we observed that a subset of allelic chromatin domains is regulated by DNase I-sensitive quantitative trait loci and that these domains are significantly enriched for genome-wide association studies hits, with autoimmune disease associated SNPs specifically enriched in lymphoblasts. This study provides the first genome-wide maps of allelic-imbalance for five histone marks. Our results provide new insights into the role of chromatin in cis-regulation and highlight the need for high-depth sequencing in ChIP-seq studies along with the need to improve allele-specificity of ChIP-enrichment.

  11. Human leukocyte antigen class I and II alleles and cervical adenocarcinoma: a pooled analysis of two epidemiologic studies

    Directory of Open Access Journals (Sweden)

    Mahboobeh eSafaeian

    2014-06-01

    Full Text Available Associations between human leukocyte antigens (HLA alleles and cervical cancer are largely representative of squamous cell carcinoma (SCC, the major histologic subtype. We evaluated the association between HLA class I (A, B, and C and class II (DRB1 and DQB1 loci and risk of cervical adenocarcinoma (ADC, a less common but aggressive histologic subtype.We pooled data from the Eastern and Western US cervical cancer studies, and evaluated the association between individual alleles and allele combinations and ADC (n=630 ADC; n=775 controls. Risk estimates were calculated for 11 a priori (based on known associations with cervical cancer regardless of histologic type and 38 non a priori common alleles, as odds ratios (OR and 95% confidence intervals (CI, adjusted for age and study. In exploratory analysis, we compared the risk associations between subgroups with HPV16 or HPV18 DNA in ADC tumor tissues in the Western US study cases and controls. Three of the a priori alleles were significantly associated with decreased risk of ADC (DRB1*13:01 (OR=0.61; 95%CI:0.41-0.93, DRB1*13:02 (OR=0.49; 95%CI:0.31-0.77, and DQB1*06:03 (OR=0.64; 95%CI:0.42-0.95; one was associated with increased risk (B*07:02(OR=1.39; 95%CI:1.07-1.79. Among alleles not previously reported, DQB1*06:04 (OR=0.46; 95%CI: 0.27-0.78 was associated with decreased risk of ADC and C*07:02 (OR=1.41; 95%CI:1.09-1.81 was associated with increased risk. We did not observe a difference by histologic subtype. ADC was most strongly associated with increased risk with B*07:02/C*07:02 alleles (OR=1.33; 95%CI:1.01-1.76 and decreased risk with DRB1*13:02/DQB1*06:04 (OR=0.41; 95%CI:0.21-0.80. Results suggest that HLA allele associations with cervical ADC are similar to those for cervical SCC. An intriguing finding was the difference in risk associated with several alleles restricted to HPV16 or HPV18 related tumors, consistent with the hypothesis that HLA recognition is HPV type specific.

  12. Beneficial role of D allele in controlling ACE levels: a study among Brahmins of north India

    Indian Academy of Sciences (India)

    SHOBHA KUMARI; NIDHI SHARMA; SUNIL THAKUR; PRAKASH R. MONDAL; KKALLUR N. SARASWATHY

    2016-06-01

    India being a country with vast diversity is expected to have different dietary and life style patterns which in turn may lead topopulation-specific environmental risk factors. Further, the interaction of these risk factors with the genetic makeup of pop-ulation makes it either susceptible or resistant to cardiovascular disease. One such candidate gene is angiotensin convertingenzyme (ACE) for various cardiovascular mechanisms. ACE is the key enzyme of the renin angiotensin aldosterone systempathway which maintains homeostasis blood pressure in the body and any variation in the levels is reported to be associatedwith various complex diseases. The DD genotype is found to increase ACE levels, which is associated with cardiovasculardiseases and decrease in ACE levels are associated with kidney diseases. The aim of this study was to understand the distribu-tion of ACE I/D polymorphism and ACE levels among Brahmins of National Capital Region (NCR) north India, with respectto age and sex ratio distribution. In this study, 136 subjects of which 50 males and 86 females, who were unrelated up to firstcousin, aged 25 to70 years were studied.ACEgene was found to be polymorphic with high frequency of heterozygote (ID)followed by II and DD genotypes. The studied population was found to be in Hardy–Weinberg equilibrium with respect toACE I/D polymorphism (P =0.55). I allele frequency was found to be higher (0.560) than the D allele (0.44). The medianlevel of ACE was found to be 65.96 ng/mL (48.12–86.24) which is towards lower side of the normal range. ACE levels werefound to be increased among individual having either of the homozygotes that is II or DD and higher frequency of heterozy-gote (ID) is indicative of advantage in the population by maintaining lower ACE levels. The limitation of the present study islow sample size, however, the merit is that the subjects belonged to a Mendalian population with a common gene pool

  13. Beneficial role of D allele in controlling ACE levels: a study among Brahmins of north India.

    Science.gov (United States)

    Kumari, Shobha; Sharma, Nidhi; Thakur, Sunil; Mondal, Prakash R; Saraswathy, Kallur N

    2016-06-01

    India being a country with vast diversity is expected to have different dietary and life style patterns which in turn may lead to population-specific environmental risk factors. Further, the interaction of these risk factors with the genetic makeup of population makes it either susceptible or resistant to cardiovascular disease. One such candidate gene is angiotensin converting enzyme (ACE) for various cardiovascular mechanisms. ACE is the key enzyme of the renin angiotensin aldosterone system pathway which maintains homeostasis blood pressure in the body and any variation in the levels is reported to be associated with various complex diseases. The DD genotype is found to increase ACE levels, which is associated with cardiovascular diseases and decrease in ACE levels are associated with kidney diseases. The aim of this study was to understand the distribution of ACE I/D polymorphism and ACE levels among Brahmins of National Capital Region (NCR) north India, with respect to age and sex ratio distribution. In this study, 136 subjects of which 50 males and 86 females, who were unrelated up to first cousin, aged 25 to70 years were studied. ACE gene was found to be polymorphic with high frequency of heterozygote (ID) followed by II and DD genotypes. The studied population was found to be in Hardy-Weinberg equilibrium with respect to ACE I/D polymorphism (P = 0.55). I allele frequency was found to be higher (0.560) than the D allele (0.44). The median level of ACE was found to be 65.96 ng/mL (48.12-86.24) which is towards lower side of the normal range. ACE levels were found to be increased among individual having either of the homozygotes that is II or DD and higher frequency of heterozygote (ID) is indicative of advantage in the population by maintaining lower ACE levels. The limitation of the present study is low sample size, however, the merit is that the subjects belonged to a Mendalian population with a common gene pool. PMID:27350671

  14. Adjustment of macroeconomic imbalances

    Directory of Open Access Journals (Sweden)

    Georgeta Barbulescu

    2013-03-01

    Full Text Available The global financial and economic crisis was the factor that triggered the adjustment of macroeconomic imbalances accumulated in Romania. The current account deficit and budget deficit were two major structural imbalances that have created a high vulnerability for the economy and explained the extent of economic contraction in Romania during the economic crisis. This article identifies the main causes that lead to the need for fiscal adjustment both in the EU and in Romania, as well as main effects of adjustments in respect of their experience in recent years. The article deals with this topic, because the current topical debate in the field of fiscal adjustments implemented both in the EU and our country, and their need for economic activity aimed at economic recovery.

  15. Europe and Global Imbalances

    OpenAIRE

    Philip R. Lane; Gian Maria Milesi-Ferretti

    2007-01-01

    Although Europe in the aggregate is a not a major contributor to global current account imbalances, its trade and financial linkages with the rest of the world mean that it will still be affected by a shift in the current configuration of external deficits and surpluses. We assess the macroeconomic impact on Europe of global current account adjustment under alternative scenarios, emphasizing both trade and financial channels. Finally, we consider heterogeneous exposure across individual Europ...

  16. PROSPECTIVE STUDY OF SERUM ELETROLYTE (NA + , K + , CA ++ , PO 4 -- IMBALANCE IN SEVERE AND MODERATE TRAUMATIC HEAD INJURY

    Directory of Open Access Journals (Sweden)

    Anjeev Kumar

    2015-04-01

    Full Text Available SUMMARY: Electrolyte abnormalities are common in patients with traumatic brain injury. Disturbances of serum sodium levels are among the most common and frequently occur in neurologically morbid patients and exacerbate their severity. Hypernatremia usually results from diabetes insipidus syndr ome, whereas hyponatremia develops due to syndrome of inappropriate secretion of antidiuretic hormone (SIADH or cerebral salt - wasting syndrome (CSWS and contribute to the high morbidity and mortality rates observed in these patients. The aim of this stud y is to measure the serum levels of Na + , K + , Ca ++ , PO 4 --- in head injury patients and find the range & compare the levels in severe and moderate head injury patients with mild head injury patients. METHOD: Na + , K + , Ca ++ , PO 4 --- levels of patients in age group 13 - 60 years were estimated by ion selective electrode method. RESULTS: it was found that most common electrolyte imbalance found is hyperphosphotemia (87% followed by hyponatremia (62.90%. In case of hyperelectrolytemia, h yperkalemia (46.6% to be the most common electrolyte imbalance in mild type of head injury whereas in severe and moderate cases hyperphosphotemia (28.40% is most common dyselectrolytemia. CONCLUSION: hyponatremia is the most common electrolyte disbalanc e among Na+, K+, Ca++, PO4 --- in patients of traumatic head injury which is also very dangerous and need to be correct promptly.

  17. Association studies using family pools of outcrossing crops based on allele-frequency estimates from DNA sequencing

    DEFF Research Database (Denmark)

    Ashraf, Bilal; Jensen, Just; Asp, Torben;

    2014-01-01

    (resulting in higher LD with causative mutations) and lower sequencing depth. Therefore, association studies using genotyping by sequencing are optimal and use low sequencing depth per sample. The developed framework for association studies using allele frequencies from sequencing can be modified for other...

  18. The Dopaminergic Reward System and Leisure Time Exercise Behavior: A Candidate Allele Study

    Directory of Open Access Journals (Sweden)

    Charlotte Huppertz

    2014-01-01

    Full Text Available Purpose. Twin studies provide evidence that genetic influences contribute strongly to individual differences in exercise behavior. We hypothesize that part of this heritability is explained by genetic variation in the dopaminergic reward system. Eight single nucleotide polymorphisms (SNPs in DRD1: rs265981, DRD2: rs6275, rs1800497, DRD3: rs6280, DRD4: rs1800955, DBH: rs1611115, rs2519152, and in COMT: rs4680 and three variable number of tandem repeats (VNTRs in DRD4, upstream of DRD5, and in DAT1 were investigated for an association with regular leisure time exercise behavior. Materials and Methods. Data on exercise activities and at least one SNP/VNTR were available for 8,768 individuals aged 7 to 50 years old that were part of the Netherlands Twin Register. Exercise behavior was quantified as weekly metabolic equivalents of task (MET spent on exercise activities. Mixed models were fitted in SPSS with genetic relatedness as a random effect. Results. None of the genetic variants were associated with exercise behavior (P>.02, despite sufficient power to detect small effects. Discussion and Conclusions. We did not confirm that allelic variants involved in dopaminergic function play a role in creating individual differences in exercise behavior. A plea is made for large genome-wide association studies to unravel the genetic pathways that affect this health-enhancing behavior.

  19. Imbalances in the elderly

    Directory of Open Access Journals (Sweden)

    Maksim Valeryevich Zamergrad

    2012-01-01

    Full Text Available The paper considers the main causes of imbalance in elderly patients. It gives data on the specific features of the course of the most common vestibular diseases in the elderly, such as benign paroxysmal positional vertigo, Meniere’s disease, stroke, and transient ischemic attack. At the same time the vestibular system-aging mechanisms that are able to induce disequilibrium are considered. Multisensory disequilibrium is discussed as the most common cause of instability in the elderly. Basic treatments for vestibular diseases in the elderly, including drug therapy and vestibular rehabilitation, are analyzed.

  20. Association between Neurocognitive Impairment and the Short Allele of the 5-HTT Promoter Polymorphism in Depression: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Hely Kalska

    2013-01-01

    Full Text Available Depression has been shown to be associated with cognitive deficits in various cognitive domains. However, it is still unclear which factors contribute to cognitive impairment. The objective of this study was to find out whether a functional polymorphism in the promoter region of the serotonin transporter (5-HTTLPR gene is associated with the impairment of cognitive functioning among depressed patients. In a pilot study, a sample of 19 patients with major depressive disorder (MDD and 19 healthy controls was investigated with an extensive psychiatric and neuropsychological examination. All participants were genotyped for 5-HTTLPR. Depressed patients with the short allele of the 5-HTT promoter region exhibited inferior cognitive performance compared to patients with the long allele polymorphism. In healthy controls, no association between genotype and cognitive performance was found. The result suggests that in MDD patients with the short allele of the 5-HTTLPR polymorphism the vulnerability to cognitive impairment is increased compared to MDD patients without the short allele inheritance. These preliminary findings need to be confirmed in a larger cohort of MDD patients.

  1. Parental genome dosage imbalance deregulates imprinting in Arabidopsis.

    Directory of Open Access Journals (Sweden)

    Pauline E Jullien

    2010-03-01

    Full Text Available In mammals and in plants, parental genome dosage imbalance deregulates embryo growth and might be involved in reproductive isolation between emerging new species. Increased dosage of maternal genomes represses growth while an increased dosage of paternal genomes has the opposite effect. These observations led to the discovery of imprinted genes, which are expressed by a single parental allele. It was further proposed in the frame of the parental conflict theory that parental genome imbalances are directly mirrored by antagonistic regulations of imprinted genes encoding maternal growth inhibitors and paternal growth enhancers. However these hypotheses were never tested directly. Here, we investigated the effect of parental genome imbalance on the expression of Arabidopsis imprinted genes FERTILIZATION INDEPENDENT SEED2 (FIS2 and FLOWERING WAGENINGEN (FWA controlled by DNA methylation, and MEDEA (MEA and PHERES1 (PHE1 controlled by histone methylation. Genome dosage imbalance deregulated the expression of FIS2 and PHE1 in an antagonistic manner. In addition increased dosage of inactive alleles caused a loss of imprinting of FIS2 and MEA. Although FIS2 controls histone methylation, which represses MEA and PHE1 expression, the changes of PHE1 and MEA expression could not be fully accounted for by the corresponding fluctuations of FIS2 expression. Our results show that parental genome dosage imbalance deregulates imprinting using mechanisms, which are independent from known regulators of imprinting. The complexity of the network of regulations between expressed and silenced alleles of imprinted genes activated in response to parental dosage imbalance does not support simple models derived from the parental conflict hypothesis.

  2. Nutrient imbalance in Norway spruce

    International Nuclear Information System (INIS)

    The studies presented in my thesis indicate that growing Norway spruce in monoculture does not constitute sustainable forest management in a high N and S deposition environment, such as in southern Sweden. The combination of N-induced high growth rates and leaching due to soil acidification causes soil reserves of nutrients to decrease. This will increase the risk of nutrient imbalance within the trees when nutrient demands are not met. The development of nutrient imbalance in Scania, southern Sweden, was shown as negative trends in needle and soil nutrient status from the mid-80s to the present in Norway spruce and Scots pine stands. This imbalance appears to be connected to high levels of N and S deposition. Clear negative effects on tree vitality were found when using a new branch development method. Today, growth and vitality seems to be limited by K, rather than N, in spruce stands older than 40 years. However, younger stands appear to be able to absorb the deposited N without negative effects on growth and vitality. When investigating effects of nutrient stress on tree vitality, indicators such as branch length and shoot multiplication rate, which include effects accumulated over several years, are suitable. Countermeasures are needed in order to maintain the forest production at a high level. Positive effects on tree nutrient status after vitality fertilization (N-free fertilization) was shown in two micronutrient deficient stands in south-central Sweden. In addition, tree vitality was positively affected after the application of a site-adapted fertilizer to the canopy. Site-adaption of fertilizers will most likely improve the possibilities of a positive response on tree growth and vitality in declining stands. In a survey of Norway spruce in mixtures with beech, birch, or oak compared to monocultures it was shown that spruce nutrient status was higher in mixtures with deciduous species than in monocultures. By using mixed-species stands the need for

  3. Nutrient imbalance in Norway spruce

    Energy Technology Data Exchange (ETDEWEB)

    Thelin, Gunnar

    2000-11-01

    The studies presented in my thesis indicate that growing Norway spruce in monoculture does not constitute sustainable forest management in a high N and S deposition environment, such as in southern Sweden. The combination of N-induced high growth rates and leaching due to soil acidification causes soil reserves of nutrients to decrease. This will increase the risk of nutrient imbalance within the trees when nutrient demands are not met. The development of nutrient imbalance in Scania, southern Sweden, was shown as negative trends in needle and soil nutrient status from the mid-80s to the present in Norway spruce and Scots pine stands. This imbalance appears to be connected to high levels of N and S deposition. Clear negative effects on tree vitality were found when using a new branch development method. Today, growth and vitality seems to be limited by K, rather than N, in spruce stands older than 40 years. However, younger stands appear to be able to absorb the deposited N without negative effects on growth and vitality. When investigating effects of nutrient stress on tree vitality, indicators such as branch length and shoot multiplication rate, which include effects accumulated over several years, are suitable. Countermeasures are needed in order to maintain the forest production at a high level. Positive effects on tree nutrient status after vitality fertilization (N-free fertilization) was shown in two micronutrient deficient stands in south-central Sweden. In addition, tree vitality was positively affected after the application of a site-adapted fertilizer to the canopy. Site-adaption of fertilizers will most likely improve the possibilities of a positive response on tree growth and vitality in declining stands. In a survey of Norway spruce in mixtures with beech, birch, or oak compared to monocultures it was shown that spruce nutrient status was higher in mixtures with deciduous species than in monocultures. By using mixed-species stands the need for

  4. Predicting the Kinetic Properties Associated with Redox Imbalance after Oxidative Crisis in G6PD-Deficient Erythrocytes: A Simulation Study

    Directory of Open Access Journals (Sweden)

    Hanae Shimo

    2011-01-01

    Full Text Available It is well known that G6PD-deficient individuals are highly susceptible to oxidative stress. However, the differences in the degree of metabolic alterations among patients during an oxidative crisis have not been extensively studied. In this study, we applied mathematical modeling to assess the metabolic changes in erythrocytes of various G6PD-deficient patients during hydrogen peroxide- (H2O2- induced perturbation and predict the kinetic properties that elicit redox imbalance after exposure to an oxidative agent. Simulation results showed a discrepancy in the ability to restore regular metabolite levels and redox homeostasis among patients. Two trends were observed in the response of redox status (GSH/GSSG to oxidative stress, a mild decrease associated with slow recovery and a drastic decline associated with rapid recovery. The former was concluded to apply to patients with severe clinical symptoms. Low max and high mG6P of G6PD were shown to be kinetic properties that enhance consequent redox imbalance.

  5. Association between HLA class I and class II alleles and the outcome of West Nile virus infection: an exploratory study.

    Directory of Open Access Journals (Sweden)

    Marion C Lanteri

    Full Text Available BACKGROUND: West Nile virus (WNV infection is asymptomatic in most individuals, with a minority developing symptoms ranging from WNV fever to serious neuroinvasive disease. This study investigated the impact of host HLA on the outcome of WNV disease. METHODS: A cohort of 210 non-Hispanic mostly white WNV(+ subjects from Canada and the U.S. were typed for HLA-A, B, C, DP, DQ, and DR. The study subjects were divided into three WNV infection outcome groups: asymptomatic (AS, symptomatic (S, and neuroinvasive disease (ND. Allele frequency distribution was compared pair-wise between the AS, S, and ND groups using χ2 and Fisher's exact tests and P values were corrected for multiple comparisons (Pc. Allele frequencies were compared between the groups and the North American population (NA used as a control group. Logistic regression analysis was used to evaluate the potential synergistic effect of age and HLA allele phenotype on disease outcome. RESULTS: The alleles HLA-A*68, C*08 and DQB*05 were more frequently associated with severe outcomes (ND vs. AS, P(A*68 = 0.013/Pc = 0.26, P(C*08 = 0.0075/Pc = 0.064, and P(DQB1*05 = 0.029/Pc = 0.68, However the apparent DQB1*05 association was driven by age. The alleles HLA-B*40 and C*03 were more frequently associated with asymptomatic outcome (AS vs. S, P(B*40 = 0.021/Pc = 0.58 and AS vs. ND P(C*03 = 0.039/Pc = 0.64 and their frequencies were lower within WNV(+ subjects with neuroinvasive disease than within the North American population (NA vs. S, P(B*40 = 0.029 and NA vs. ND, P(C*03 = 0.032. CONCLUSIONS: Host HLA may be associated with the outcome of WNV disease; HLA-A*68 and C*08 might function as "susceptible" alleles, whereas HLA-B*40 and C*03 might function as "protective" alleles.

  6. Applying the effort-reward imbalance model to household and family work: a population-based study of German mothers

    Directory of Open Access Journals (Sweden)

    Sperlich Stefanie

    2012-01-01

    Full Text Available Abstract Background This paper reports on results of a newly developed questionnaire for the assessment of effort-reward imbalance (ERI in unpaid household and family work. Methods: Using a cross-sectional population-based survey of German mothers (n = 3129 the dimensional structure of the theoretical ERI model was validated by means of Confirmatory Factor Analysis (CFA. Analyses of Variance were computed to examine relationships between ERI and social factors and health outcomes. Results CFA revealed good psychometric properties indicating that the subscale 'effort' is based on one latent factor and the subscale 'reward' is composed of four dimensions: 'intrinsic value of family and household work', 'societal esteem', 'recognition from the partner', and 'affection from the child(ren'. About 19.3% of mothers perceived lack of reciprocity and 23.8% showed high rates of overcommitment in terms of inability to withdraw from household and family obligations. Socially disadvantaged mothers were at higher risk of ERI, in particular with respect to the perception of low societal esteem. Gender inequality in the division of household and family work and work-family conflict accounted most for ERI in household and family work. Analogous to ERI in paid work we could demonstrate that ERI affects self-rated health, somatic complaints, mental health and, to some extent, hypertension. Conclusions The newly developed questionnaire demonstrates satisfied validity and promising results for extending the ERI model to household and family work.

  7. Study on Disturbance Characteristics of Imbalance Flywheels%不平衡飞轮的扰动特性

    Institute of Scientific and Technical Information of China (English)

    李太平; 姚煜中; 李霖圣; 程世祥

    2014-01-01

    High-precision spacecraft has very serious demands on pointing accuracy. The flywheel is an integral part of the execution units for satellite attitude control. In the research and development process, small eccentricity or dynamic imbalance is unavoidable. So, in the attitude maneuver and stability control process, rotation of the flywheel can cause interference forces. In this paper, taking the imbalance mass as a part of the spacecraft, the spacecraft attitude dynamic equations are conducted and the simulation is carried out. The simulation results are analyzed and illustrated. It is found that when the flywheel is rotating at high speed, the attitude of the spacecraft is essentially independent of the dynamic unbalance mass and its installation location, while it is linearly related to the static unbalance mass. When a single flywheel rotates, the long-period pointing accuracy depends on the inherent characteristics of the flywheel only, instead of its rotating speed. While multi-flywheels rotate, the attitude will oscillate or diverge, depending on the initial phase. Furthermore, effect of the multi-flywheels rotating does not mean the superposition of the influences of single-flywheel’s rotating.%高精度航天器对指向精度有极高的要求,飞轮是卫星姿态控制环节中不可或缺的执行部件,在研制和装备过程中,不可避免地具有微量的偏心或动不平衡,在姿态机动和稳定控制的过程中,飞轮的旋转会产生干扰力。将动静不平衡质量作为航天器的一部分,推导出完整航天器动力学姿态方程,进行动力学仿真,并根据完整的姿态动力学方程简化分析仿真结果。研究发现动静不平衡质量在飞轮高速转动时,对姿态均有影响,动不平衡质量对姿态的影响与安装位置关系很小,而静不平衡质量呈现线性关系,且两者对姿态的影响满足线性叠加。单轴转动时,指向精度的长周期变化只与飞

  8. Significance of TGFBR3 allelic loss in the deregulation of TGFβ signaling in primary human endometrial carcinomas.

    Science.gov (United States)

    Zakrzewski, Piotr K; Nowacka-Zawisza, Maria; Semczuk, Andrzej; Rechberger, Tomasz; Gałczyński, Krzysztof; Krajewska, Wanda M

    2016-02-01

    Downregulation of betaglycan (β-glycan) [transforming growth factor β receptor type III (TGFβR3)], which belongs to co-receptors of the TGFβ pathway, occurs in a broad spectrum of primary human malignancies. However, in the case of endometrial cancer (EC), the mechanisms responsible for genetic alterations are still unknown. Therefore, we investigated allelic imbalance at the TGFBR3 locus (1p33‑p32) in the context of β-glycan mRNA and protein expression, as a possible genetic event determining β-glycan deregulation in EC patients. Study of β-glycan allelic imbalance in 48 primary human ECs was performed with the use of three different microsatellite markers, spanned within or in direct proximity to the TGFBR3 locus. Real‑time PCR and western blotting were used for β-glycan mRNA and protein quantification methods, respectively. Altogether, 25 of 39 (64%) informative cases and 25 of 48 (52%) of all specimens showed allelic imbalance in at least one microsatellite marker, concomitantly with decrease at both the β-glycan transcript and protein levels. Interestingly, 54% (15/28), 36% (8/22) and 35% (7/20) of informative ECs displayed allelic loss in D1S188, D1S435 and D1S1588 microsatellite markers, respectively. It is worth pointing out that 5 out of 39 (13%) informative cases showed loss of heterozygosity (LOH) at two microsatellite markers. Microsatellite instability (MSI) was found in two markers, but to a very strictly limited extent. None of the clinicoprognostic features was found to be of significance. Our results suggest that LOH in the TGFBR3 locus may be one of the mechanisms responsible for loss of β-glycan expression. No correlation of LOH at the TGFBR3 locus with clinicopathological parameters suggests that allelic imbalance may be an early genetic event during neoplastic transformation of human endometrium. PMID:26548418

  9. Frequency of the apolipoprotein E epsilon 4 allele in a case-control study of early onset Parkinson's disease.

    OpenAIRE

    Whitehead, A S; Bertrandy, S.; Finnan, F; Butler, A; G. D. Smith(Edinburgh University); Ben-Shlomo, Y.

    1996-01-01

    OBJECTIVES: It has been suggested that Parkinson's disease and Alzheimer's disease may share a common or at least overlapping aetiology. The prevalence of dementia among cases of Parkinson's disease is known to be greater than expected in the general population. The frequency of the apolipoprotein epsilon 4 allele in a large case-control study of early onset Parkinson's disease has been examined. METHODS: 215 patients and 212 population based controls were recruited from the Republic of Irela...

  10. What is Imbalance of Nature?

    Science.gov (United States)

    Kontar, V. A.

    2012-12-01

    The Mother Nature is imbalanced at all. The Mother Nature is every moment new, never returns to previous condition. The gravity and magnetosphere are changeable and imbalanced. The Sun is changeable and imbalanced. The climate is changeable and imbalanced. The atmosphere is changeable and imbalanced. The ocean is changeable and imbalanced. The crust and deep interior are changeable and imbalanced. The cryosphere is changeable and imbalanced. The life is simultaneously as the creator and the result of the imbalance of Nature. The people society is changeable and imbalanced. All chemical, physical, social, and other phenomenons are changeable and imbalanced. It's just that each phenomenon of the Mother Nature has some personal time-scale: one change in a nanosecond, and looks like for us as instable, i.e. imbalanced; while others change over millions years and, therefore, to us looks like not changeable, i.e. balanced. The scientists who are studying the Nature have convinced that the real balance never exist in Nature. Sometimes we can see something that is stable, i.e. balanced. But on closer study it appears that we are witnessing is not eternal rest and balance, it is not eternal STOP, but it is the perpetual motion, changing, there are a lot of imbalances. The balance it can be some result of the temporary mutual compensation the imbalanced processes in opposite directions. The balance it can be also some result of the inaccurate measurement, misunderstanding of conception or even request from bosses. But if we start use more accurate measurements, improve the models and not fear the bosses, than usually we got some new details. These new details show thet under the balanced visibility in really is hiding the interaction of many imbalanced processes of different directions. The balanced logic usually answers to question: What is it? The balanced answers are approximate and it will be updated many times during the development of science and practice. The

  11. Effort-reward imbalance at work and risk of sleep disturbances. Cross-sectional and prospective results from the Danish Work Environment Cohort Study

    DEFF Research Database (Denmark)

    Rugulies, Reiner; Norborg, Malene; Sørensen, Tilde Sand;

    2009-01-01

    OBJECTIVES: This study aimed to analyze if adverse psychosocial working conditions, defined by the model of effort-reward imbalance (ERI), increase the risk of sleep disturbances in the Danish workforce. METHODS: Analyses were conducted both cross-sectionally and prospectively in a representative...... sample of Danish employees. The cross-sectional sample included 2614 participants (50% women) aged 18-59 years, of whom 263 had sleep disturbances. Of the 2351 participants initially free of sleep disturbances, 304 (12.9%) developed sleep disturbances during the 5-year follow-up. Data were analyzed...... with gender-stratified, multivariate logistic and linear regression analyses, adjusted for numerous covariates. RESULTS: Cross-sectionally, a 1 S.D. increase in the ERI ratio was associated with sleep disturbances among both men [odds ratio (OR)=1.65, 95% confidence interval (CI)=1.20-2.27] and women (OR=1...

  12. Further studies of the influence of apolipoprotein B alleles on glucose and lipid metabolism

    DEFF Research Database (Denmark)

    Bentzen, Joan; Poulsen, Pernille; Vaag, Allan;

    2003-01-01

    The effect of five genetic polymorphisms in the apolipoprotein B gene on parameters of lipid and glucose metabolism was assessed in 564 Danish mono- and dizygotic twins. Genotypes in apolipoprotein B T71I (ApaLI RFLP), A591V (AluI RFLP), L2712P (MvaI RFLP), R3611Q (MspI RFLP), and E4154K (Eco......RI RFLP) were established using polymerase chain reaction and restriction enzyme digests. The effect of genotypes on lipid levels and on glucose, insulin, and HOMA (i.e., calculated parameters of beta-cell function and insulin resistance) was assessed by multivariate analyses of variance correcting...... for the effect of gender, age, glucose tolerance status, and body mass index. The effect of genotype on the risk of having impaired glucose metabolism was calculated by logistic regression analysis. Finally, linkage between allele sharing and physiological parameters was calculated by the new Haseman...

  13. The Hegelian dialectics of global imbalances

    Directory of Open Access Journals (Sweden)

    Célestin Monga

    2012-11-01

    Full Text Available Traditional narratives of external imbalances have focused on the analysis of national accounts, trade flows, and financial flows. They have generated two opposing views of the current situation of the world economy: on one side, a prudent, if not pessimistic view considers large imbalances as evidence of problems with the international monetary and financial system, and symptoms of domestic distortions (mainly in the United States and China. On the other side, a relaxed, if not optimistic view suggests that global imbalances are not anomalies but simply the predictable outcome of a world with increasingly globalized financial flows in search of the right mix of risks and returns. This paper offers a critical analysis of these competing explanations of the United States-China imbalances and suggests a way of reconciling them. The paper uses Hegel’s parable of the development of self-consciousness to explain the dynamics between the two countries. Hegel may not have been a great philosopher of history but his study of lordship and bondage provides a good framework for analyzing the dialectics of recognition and acknowledgement that currently characterizes the macroeconomic relationships between the United States and China.

  14. Further studies of the influence of apolipoprotein B alleles on glucose and lipid metabolism

    DEFF Research Database (Denmark)

    Bentzen, Joan; Poulsen, Pernille; Vaag, Allan;

    2003-01-01

    The effect of five genetic polymorphisms in the apolipoprotein B gene on parameters of lipid and glucose metabolism was assessed in 564 Danish mono- and dizygotic twins. Genotypes in apolipoprotein B T71I (ApaLI RFLP), A591V (AluI RFLP), L2712P (MvaI RFLP), R3611Q (MspI RFLP), and E4154K (Eco......RI RFLP) were established using polymerase chain reaction and restriction enzyme digests. The effect of genotypes on lipid levels and on glucose, insulin, and HOMA (i.e., calculated parameters of beta-cell function and insulin resistance) was assessed by multivariate analyses of variance correcting......-Elston method. The allele frequencies of all five polymorphisms were similar to those previously reported for Caucasian populations. The L2711P (MvaI RFLP) polymorphism influenced LDL-cholesterol and LDL-to-HDL measures (p = 0.04 and 0.03, respectively), while the R3611Q (MspI RFLP) polymorphism had an effect...

  15. ANALYSIS OF SEQUENCE POLYMORPHISM OF SCR CLASS I AND II ALLELES AND STUDY REGULATION OF THEIR EXPRESSION

    Directory of Open Access Journals (Sweden)

    Jana ŽALUDOVÁ

    2012-06-01

    Full Text Available Self-incompatibility (AI is a widespread mechanism used by flowering plants to prevent inbreeding depression and helps create and maintain genetic diversity within a species. Oilseed rape (Brassica napus L. and especially its modern varieties are characterized by high level of self-fertility. In an effort to increase the production current breeding is focused on the production of inbred lines for making the F1 hybrids and the self-incompatibility can be an interesting tool for production self- sterile lines. In Brassica napus, we found two recessive alleles of a gene SCR II. Different expression of both alleles does not correspond to phenotypic manifestation of self-incompatibility and we can assume that it is prevailed by repressor gene that does not lie on the S-locus. This is also reason, why the SCR gene cannot serve as a molecular marker of self-incompatibility in Brassica napus, although many authors believe that this gene is essential in AI reaction. Brassica napus belong to plants with complex genetic constitution, is composed by two genomes, A and C, which give the possibility of different interactions and makes it difficult to study compared with diploid B. rapa and B. oleracea. In further study it is therefore important to focus on the interactions between genes SCR, SRK and SLG, and their influence on others, such as supressor gene systems.

  16. [Study on identification of "Digeda" raw materials in Mongolian patent medicine by PCR amplification of specific alleles].

    Science.gov (United States)

    Cui, Zhan-hu; Huang, Xian-zhang; Long, Ping; Zhang, Le; Zhao, Dong-dong; Wang, Ying-li; Li, Min-hui

    2015-03-01

    To explore a new method for identification of Mongolian patent medicine (MPM) by PCR amplification of specific alleles. Eight kinds of MPM were used to study the identification of "Digeda" raw materials. The total DNA of Lomatogonium rotatum and Corydalis bungeana samples were extracted through modified CTAB method, psbA-trnH sequence was amplified by PCR and sequenced directionally. Specific primer was designed. The DNA of 8 kinds of MPM also was extracted and purified by the commercial DNA purification kits. The rbcL and two pair of specific primers sequences were amplified. The specific amplified products were sequenced in forward directions. All specific sequences were aligned and were analyzed. The results indicated that L rotatum can be identified by specific primers from Digeda-4 Tang, Digeda-8 San, Digeda-4 San, and C. bungeana medicinal materials can be identified by specific primers from Li Dan Ba Wei San, Yi He Ha Ri-12 and A Ga Ri-35. PCR amplification of specific alleles can stably and accurately distinguish raw medicinal materials in MPM. PMID:26087535

  17. Dose response effect of rutin a dietary antioxidant on alcohol-induced prooxidant and antioxidant imbalance - a histopathologic study.

    Science.gov (United States)

    Shenbagam, Madhavan; Nalini, Namasivayam

    2011-08-01

    The present study was designed to investigate the effect of rutin on ethanol-induced hepatotoxicity in a dose-dependent manner in rats. Male albino rats were divided into six groups. Group 1 rats served as control and group 2 rats received rutin 100 mg/kg body weight. Hepatotoxicity was induced in groups 3-6 rats (20% ethanol) for 60 days. In addition, groups 4-6 rats received rutin at doses of 25, 50, 100 mg/kg body weight, respectively for the last 30 days of the experiment. We observed a significant increase in the activities of liver marker enzymes, serum amino transferases, alkaline phosphatase, γ-glutamyl transpeptidase the levels of thiobarbituric acid reactive substances, conjugated dienes, lipid hydroperoxides, and a decrease in the activities of superoxide dismutase (SOD), catalase (CAT), glutathione and its related enzymes, vitamins C and E when compared to ethanol-fed rats. Rutin supplementation along with ethanol significantly decreased the levels of liver marker enzymes, lipid peroxidation and significantly elevated the activities of liver SOD, CAT, GSH, glutathione peroxidase, vitamins C and E when compared to untreated ethanol supplemented rats. Among the three doses, 100 mg/kg body weight of rutin was found to exert a more pronounced hepatoprotective effect against ethanol-induced toxicity. Our results were also confirmed by the histopathologic observations. PMID:20727014

  18. Twin studies reveal specific imbalances in the mucosa-associated microbiota of patients with ileal Crohn's disease

    Energy Technology Data Exchange (ETDEWEB)

    Willing, B.; Halfvarson, J.; Dicksved, J.; Rosenquist, M.; Jarnerot, G.; Engstrand, L.; Tysk, C.; Jansson, J. K

    2008-08-15

    Large inter-individual variation in the composition of the intestinal microbiota between unrelated individuals has made it challenging to identify specific aspects of dysbiosis that lead to Crohn's disease. To reduce variations in exposure during establishment of the gut flora and influence of genotype, we studied the mucosaassociated microbiota of monozygotic twin pairs that were discordant (n=6) or concordant (n=4) for Crohn's disease. DNA was extracted from biopsies collected from 5 locations between the ileum and rectum. Bacterial 16S ribosomal RNA genes were amplified and community composition assessed by terminal-restriction fragment length polymorphism, cloning and sequencing and quantitative real-time PCR. The microbial compositions at all biopsy locations for each individual were similar, regardless of disease state, but there were differences between individuals. In particular, individuals with predominantly ileal Crohn's had a dramatically lower abundance (P<0.001) of Faecalibacterium prausnitzii and increased abundance (P<0.03) of Escherichia coli compared to healthy co-twins and those with Crohn's localized in the colon. This dysbiosis was significantly correlated to the disease phenotype rather than genotype. The reduced abundance of F. prausnitzii and increased abundance of E. coli are indicative of an ileal Crohn's disease phenotype, distinct from colonic Crohn's disease and the relative abundances of these specific bacterial populations are promising biomarker candidates for differential diagnosis of Crohn's and eventually customized treatment.

  19. A new approach for near real-time micro-CHP management in the context of power system imbalances – A case study

    International Nuclear Information System (INIS)

    Highlights: • An aggregator consisting of micro-CHPs was proposed. • A near-real time balance optimization was developed. • A case study that resembles the actual situation of the Belgian energy market is studied. • Using the near-real time balance optimization a cost decrease between 2.5% and 5% can be achieved. - Abstract: In order to ensure reliable operation of the electric grid, it is required to keep the balance between total generation and consumption of power in real-time. This task is performed by the transmission system operator. Nowadays, with the large penetration of intermittent generation on the electric grid there is a need to increase the flexibility of the system in order to ensure the balance. The present study develops a methodology to provide near real-time balancing services making use of an aggregation of micro-CHP devices. The controller of the aggregator bids electricity into the day-ahead market using the expected heat demand and spot market prices. The main focus of this work is on the near real-time optimization which is performed during the actual day. This optimization provides the opportunity to obtain extra profits by rescheduling the operation of the aggregator. The rescheduling is done in order to compensate the total system imbalance. To achieve this, every time step, the aggregator evaluates the system demand for up or down regulation and decides if it is profitable to adjust its position to provide balancing services to the power system. The methodology is applied to a case study that resembles the actual situation of the energy market and CHP installations in Belgium. The results show that using the near real-time balancing optimization a total cost decrease of 5% can be achieved depending on the season. This conclusion is valid even if there is an increase of the gas prices and if the actual governmental support on CHPs is not taken into account

  20. Invasive Allele Spread under Preemptive Competition

    OpenAIRE

    Yasi, J. A.; Korniss, G.; Caraco, T.

    2005-01-01

    We study a discrete spatial model for invasive allele spread in which two alleles compete preemptively, initially only the "residents" (weaker competitors) being present. We find that the spread of the advantageous mutation is well described by homogeneous nucleation; in particular, in large systems the time-dependent global density of the resident allele is well approximated by Avrami's law.

  1. Studies on African pygmies. V. Red cell acid phosphatase polymorphism in Babinga pygmies: high frequency of ACPR allele.

    Science.gov (United States)

    Santachiara-Benerecetti, A S; Ranzani, G N; Antonini, G

    1977-11-01

    A group of Babinga Pygmies from the Central African Republic have been analyzed for the acid phosphatase polymorphism with special reference to the ACPR allele. The frequency of this allele (17%) is one of the highest observed in Africa and is comparable only with those reported for the Khoikhoi and the San.

  2. Two models at work : A study of interactions and specificity in relation to the Demand-Control Model and the Effort-Reward Imbalance Model

    NARCIS (Netherlands)

    Vegchel, N.

    2005-01-01

    To investigate the relation between work and employee health, several work stress models, e.g., the Demand-Control (DC) Model and the Effort-Reward Imbalance (ERI) Model, have been developed. Although these models focus on job demands and job resources, relatively little attention has been devoted t

  3. A cross-sectional study of the relationship between job demand-control, effort-reward imbalance and cardiovascular heart disease risk factors

    Directory of Open Access Journals (Sweden)

    Söderberg Mia

    2012-12-01

    Full Text Available Abstract Background This cross-sectional study explored relationships between psychosocial work environment, captured by job demand-control (JDC and effort-reward imbalance (ERI, and seven cardiovascular heart disease (CHD risk factors in a general population. Method The sampled consists of randomly-selected men and women from Gothenburg, Sweden and the city’s surrounding metropolitan areas. Associations between psychosocial variables and biomarkers were analysed with multiple linear regression adjusted for age, smoking, education and occupational status. Results The study included 638 men and 668 women aged 24–71. Analysis between JDC and CHD risk factors illustrated that, for men, JDC was associated with impaired scores in several biomarkers, especially among those in high strain jobs. For women, there were no relationships between JDC and biomarkers. In the analysis of links between ERI and CHD risk factors, most associations tested null. The only findings were raised triglycerides and BMI among men in the fourth quartile of the ERI-ratio distribution, and lowered LDL-cholesterol for women. An complementary ERI analysis, combining high/low effort and reward into categories, illustrated lowered triglycerides and elevated HDL-cholesterol values among women reporting high efforts and high rewards, compared to women experiencing low effort and high reward. Conclusions There were some associations between psychosocial stressors and CHD risk factors. The cross-sectional design did not allow conclusions about causality but some results indicated gender differences regarding sensitivity to work stressors and also how the models might capture different psychosocial dimensions.

  4. The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study

    International Nuclear Information System (INIS)

    TGF-β receptor type I is a mediator of growth inhibitory signals. TGFBR1*6A (rs11466445) is a common polymorphic variant of the TGF-β receptor I gene and has been associated with tumour susceptibility. Nevertheless, the role of this polymorphism as a risk factor for colorectal cancer is controversial. The aim of this study was to assess the association between TGFBR1*6A and colorectal cancer, age, sex, tumour location and tumour stage in a Spanish population. The case-control study involved 800 Spanish subjects: 400 sporadic colorectal cancer patients and 400 age-, sex-, and ethnic-matched controls. The odds ratio (OR) and 95% confidence interval (95% CI) for the TGFBR1*6A polymorphism were calculated using unconditional logistic regression adjusted for age and sex. Analysis of somatic mutations at the GCG repeat of TGFBR1 exon 1 and germline allele-specific expression were also conducted to obtain further information on the contribution of the TGFBR1*6A allele to CRC susceptibility. There was no statistically significant association between the TGFBR1*6A allele and CRC (p > 0.05). The OR was 1.147 (95% CI: 0.799–1.647) for carriers of the TGFBR1*6A allele and 0.878 (95% CI: 0.306–2.520) for homozygous TGFBR1*6A individuals compared with the reference. The frequency of the polymorphism was not affected by age, sex or tumour stage. The TGFBR1*6A allele was more prevalent among colon tumour patients than among rectal tumour patients. Tumour somatic mutations were found in only two of 69 cases (2.9%). Both cases involved a GCG deletion that changed genotype 9A/9A in normal DNA to genotype 9A/8A. Interestingly, these two tumours were positive for microsatellite instability, suggesting that these mutations originated because of a deficient DNA mismatch repair system. Allele-specific expression of the 9A allele was detected in seven of the 14 heterozygous 9A/6A tumour cases. This could have been caused by linkage disequilibrium of the TGFBR1*6A allele with

  5. On the Chiral imbalance and Weibel Instabilities

    CERN Document Server

    Kumar, Avdhesh; Kaw, Predhiman K

    2016-01-01

    We study the chiral-imbalance and the Weibel instabilities in presence of the quantum anomaly using the Berry-curvature modified kinetic equation. We argue that in many realistic situations, e.g. relativistic heavy-ion collisions, both the instabilities can occur simultaneously. The Weibel instability depends on the momentum anisotropy parameter $\\xi$ and the angle ($\\theta_n$) between the propagation vector and the anisotropy direction. It has maximum growth rate at $\\theta_n=0$ while $\\theta_n=\\pi/2$ corresponds to a damping. On the other hand the pure chiral-imbalance instability occurs in an isotropic plasma and depends on difference between the chiral chemical potentials of right and left-handed particles. It is shown that when $\\theta_n=0$, only for a very small values of the anisotropic parameter $\\xi\\sim \\xi_c$, growth rates of the both instabilities are comparable. For the cases $\\xi_c<\\xi\\ll1$, $\\xi\\approx 1$ or $\\xi \\geq 1$ at $\\theta_n=0$, the Weibel modes dominate over the chiral-imbalance ins...

  6. A Study of GluK1 Kainate Receptor Polymorphisms in Down Syndrome Reveals Allelic Non-Disjunction at 1173(C/T

    Directory of Open Access Journals (Sweden)

    Debarati Ghosh

    2009-01-01

    Full Text Available Mechanisms underlying Down syndrome (DS-related mental retardation (MR remain poorly understood. In trisomic offspring, non-disjunction may result in the reduction to homozygosity of a susceptibility allele inherited from a heterozygous parent. Accordingly, we sought evidence for allelic non-disjunction in the GluK1 gene that encodes the critical kainite-binding glutamate receptor subunit-5, maps to chromosome 21q22.1 in the DS critical region and is expressed in brain regions responsible for learning and memory. Three polymorphisms of GluK1 [522(A/C rs363538; 1173(C/T rs363430 and 2705(T/C rs363504] were genotyped in 86 DS patient families by means of PCR-coupled RFLP assays and evaluated with respect to allele frequency, heterozygosity, linkage disequilibrium, stage and parental origin of allelic non-disjunction. We report that the distribution of allele frequencies is in Hardy-Weinberg equilibrium. Moderate heterozygosity (0.339 and a major allele frequency of 0.78 render the 1173(C/T marker informative. Pair-wise comparisons reveal that 522(A/C-1173(C/T [χ2 = 31.2, df = 1, p = 0.0001; D’ = 0.42] and 1173(C/T-2705(T/C [χ2 = 18.3, df = 1, p = 0.0001; D’ = 0.34] are in significant linkage disequilibrium of weak magnitude. The estimated ratio of meiosis-I to meiosis-II errors arising from allelic non-disjunction of 1173(C/T is 4:1 in maternal cases and 2:1 in paternal cases. Studies including additional markers and patient samples are warranted to further substantiate present findings.

  7. Frequency of the CCRdelta32 allele in Brazilians: a study in colorectal cancer and in HTLV-I infection

    Directory of Open Access Journals (Sweden)

    Rinaldo W. Pereira

    2000-09-01

    Full Text Available The identification of a 32-bp deletion in the cc-chemokine receptor-5 gene (CCR5delta32 allele that renders homozygous individuals highly resistant to HIV infection has prompted worldwide investigations of the frequency of the CCR5delta32 allele in regional populations. It is important to ascertain if CCR5delta32 is a factor to be considered in the overall epidemiology of HIV in individual populations. With this in mind we determined the CCR5delta32 allele frequency in a large sample (907 individuals of the southeastern Brazilian urban population, stratified as follows: 322 healthy unrelated individuals, 354 unselected colorectal cancer patients, and 229 blood donors. The three groups displayed essentially identical allelic frequencies of CCR5delta32 and pairwise comparisons did not show significant differences. Thus, our results can be pooled to provide a reliable estimate of the CCR5delta32 allele frequency in the southeastern Brazil of 0.053 ± 0.005. The blood donors comprised 50 HTLV-I serologically negative individuals, 115 non-symptomatic individuals HTLV-I positive by ELISA but with indeterminate Western blot results, 49 healthy blood donors HTLV-I positive both at ELISA and Western blot and 15 patients with clinical spinal cord disease (HAM. A suggestive trend was observed, with the CCR5delta32 frequencies decreasing progressively in these four categories. However, when we applied Fischer's exact test no significant differences emerged. We believe that further studies in larger cohorts should be performed to ascertain whether the CCR5delta32 allele influences the chance of becoming infected or developing clinical symptoms of HTLV-I infection.A observação de que indivíduos homozigotos para uma deleção de 32 pares de base no gene que codifica para o receptor 5 de cc-quimiocinas apresentam um menor risco de contrair a infecção por HIV-1 levou à investigação da freqüência deste polimorfismo em várias populações mundiais.

  8. Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study

    OpenAIRE

    Vandenberghe, Peter; Wlodarska, Iwona; Tousseyn, Thomas; Dehaspe, Luc; Dierickx, Daan; Verheecke, Magali; Uyttebroeck, Anne; Bechter, Oliver; Delforge, Michel; Vandecaveye, Vincent; Brison, Nathalie; Verhoef, Gregor; Legius, Eric; Amant, Frédéric; Vermeesch, Joris

    2015-01-01

    Hodgkin's lymphoma is one of the most common lymphoid neoplasms in young adults, but the low abundance of neoplastic Hodgkin/Reed-Sternberg cells in the tumour hampers the elucidation of its pathogenesis, biology, and diversity. After an incidental observation that genomic aberrations known to occur in Hodgkin's lymphoma were detectable in circulating cell-free DNA, this study was undertaken to investigate whether circulating cell-free DNA can be informative about genomic imbalances in Hodgki...

  9. Effort-reward imbalance and depression in Japanese medical residents.

    Science.gov (United States)

    Sakata, Yumi; Wada, Koji; Tsutsumi, Akizumi; Ishikawa, Hiroyasu; Aratake, Yutaka; Watanabe, Mayumi; Katoh, Noritada; Aizawa, Yoshiharu; Tanaka, Katsutoshi

    2008-01-01

    The effort-reward imbalance is an important psychosocial factor which is related to poor health among employees. However, there are few studies that have evaluated effort-reward imbalance among medical residents. The present study was done to determine the association between psychosocial factors at work as defined by the effort-reward imbalance model and depression among Japanese medical residents. We distributed a questionnaire to 227 medical residents at 16 teaching hospitals in Japan at the end of August 2005. We asked participants to answer questions which included demographic information, depressive symptoms, effort-reward imbalance, over-commitment and social support. Depression was evaluated using the Japanese version of the Center for Epidemiologic Studies-Depression (CES-D) scale. The effort-reward imbalance and over-commitment were assessed by the Effort-Reward Imbalance (ERI) questionnaire which Siegrist developed. Social support was determined on a visual analog scale. Logistic regression analysis was performed to determine the associations between effort-reward imbalance and depressive symptoms. Depressive symptoms were found in 35 (29.2%) 1st-year residents and 21 (27.6%) 2nd-year residents. The effort-reward ratio >1 (OR, 8.83; 95% CI, 2.87-27.12) and low social support score (OR, 2.77, 95% CI, 1.36-5.64) were associated with depressive symptoms among medical residents. Effort-reward imbalance was independently related to depression among Japanese medical residents. The present study suggests that balancing between effort and reward at work is important for medical residents' mental health.

  10. [Study of the HLA-DQ system by the complement fixation test on lymphocytes stimulated by phytohemagglutinin. Existence of HLA-DQX allele(s)].

    Science.gov (United States)

    Chidiac, A; Colombani, M; Lepage, V; Raffoux, C; Sansonetti, N; Colombani, J

    1986-04-01

    The complement fixation microtechnique against PHA blasts has been used to study HLA-DQw1, 2, 3 specificities with sera from multiple transfused patients and/or from multiparous women. Several sera (6 or 7) have been used to define each DQ specificity. The sera have been chosen because of their reactivity with cells from HLA-DR 1, 2 or w6 donors (for DQw1), DR3 or 7 donors (for DQw2,) DR4 or 5 donors (for DQw3). Correlation coefficients between DQ and DR specificities were from 0.56 to 0.91. Correlation coefficients between sera were from 0.51 to 0.92 in each cluster of sera. The segregation of DQw1, 2, 3 specificities has been studied in 46 families with 234 children. This study showed haplotypes lacking DQw1, 2, 3 specificities. The segregation of such 11 DQX haplotypes has been observed in 38 children from 8 families; 5 children were DQX/DQX homozygotes. Up to now, no serological reagent defining the specificity (or specificities) corresponding to DQX has been found. No preferential association was observed between DQX and DR specificities. The gene frequencies observed in 170 haplotypes in these 46 families were as follows: DQw1: 0.400; DQw2: 0.252; DQw3: 0.282; DQX: 0.065. Detecting DQ specificities seems easier by CF on PHA blasts than by lymphocytotoxicity microtechnique against B lymphocytes and monocytes from pheripheral blood. This suggests that PHA blasts express larger quantities of DQ molecules than B lymphocytes and monocytes. The results confirm that complement fixation microtechnique against PHA blasts is efficient for HLA-DQw typing. PMID:3092321

  11. Dijet imbalance in hadronic collisions

    CERN Document Server

    Boer, Daniel; Pisano, Cristian

    2009-01-01

    The imbalance of dijets produced in hadronic collisions has been used to extract the average transverse momentum of partons inside the hadrons. In this paper we discuss new contributions to the dijet imbalance that could complicate or even hamper this extraction. They are due to polarization of initial state partons inside unpolarized hadrons that can arise in the presence of nonzero parton transverse momentum. Transversely polarized quarks and linearly polarized gluons produce specific azimuthal dependences of the two jets that in principle are not suppressed. Their effects cannot be isolated just by looking at the angular deviation from the back-to-back situation, rather they enter jet broadening observables. In this way they directly affect the extraction of the average transverse momentum of unpolarized partons that is thought to be extracted. We discuss appropriately weighted cross sections to isolate the additional contributions.

  12. The experience of the applications of the equation of the water-energy imbalance in the study of water resources of China

    Science.gov (United States)

    Yang, H.; Yang, D.; Xu, X.

    2011-12-01

    The water-energy balance equation reveals a relationship of actual evaporation (E) with potential evaporation (Ep) and precipitation (P) over a long-term time scale, i.e. a stabilized relationship between E/P and Ep/P. However, this relationship becomes an imbalance at smaller time scales. A new equation, Hanbo Yang Equation, for the imbalance introduced water storage (S), which described a stabilized relationship between E/(P+S) and Ep/(P+S), called the equation of the water-energy imbalance. Hanbo Yang Equation was used to estimate actual evaporation at the Weishan experiment station in China and the Yakutsk experiment station in Russia, as well as in Luan River in northern China. The results show the equation has a good performance. Additionally, the parameter, showing a seasonal variation, can be related to vegetation status. In regions receiving additional water transported from other regions, the available water can be expressed as (P + I + S), with I representing water intake. Therefore, it leads to a new stabilized relationship between E/(P+I+S) and Ep/(P+I+S). Based on the relationship, monthly water consumption of the Yerqiang Oases, locating in Xinjiang province of China, was assessed. The results show a good agreement with that estimated by the runoff-evaporation hydrological model. It indicates that the equation is a novel tool to estimate water consumption, and a novel tool to assess water demand.

  13. AN ASSOCIATION STUDY BETWEEN ESSENTIAL HYPERTENSION AND HLA-DRB1 ALLELES

    Institute of Scientific and Technical Information of China (English)

    陶贞寅; 赵岩; 朱席林; 朱克; 余国平; 吴卫平; 董怡; 刘力生; 邱长春

    1995-01-01

    It is well established that genetic and environmental factors are involved in the etiology of essential hypertension(EH), previous studies have suggested that at least one of the HLA genes is responsihle for the genetic susceptlbility to EH. Our aim in the present study was to investigate this issue in China by the PCR-SSP HLA-DRB1 typing method. The resuks showed an increased frequency of HLA-DR2 and a decreased frequency of HLA-DR7 with EH patients compared with controls. We consider that HLA-DR2 may represent a marker for susceptibility to EH in the North Chinese popuhtlon.

  14. Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

    Science.gov (United States)

    Chahal, Harvind S; Wu, Wenting; Ransohoff, Katherine J; Yang, Lingyao; Hedlin, Haley; Desai, Manisha; Lin, Yuan; Dai, Hong-Ji; Qureshi, Abrar A; Li, Wen-Qing; Kraft, Peter; Hinds, David A; Tang, Jean Y; Han, Jiali; Sarin, Kavita Y

    2016-01-01

    Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC. PMID:27539887

  15. Translocation t(11;14 (q13;q32 and genomic imbalances in multi-ethnic multiple myeloma patients: a Malaysian study

    Directory of Open Access Journals (Sweden)

    Ivyna Bong Pau Ni

    2012-09-01

    Full Text Available More than 50% of myeloma cases have normal karyotypes under conventional cytogenetic analysis due to low mitotic activity and content of plasma cells in the bone marrow. We used a polymerase chain reaction (PCR-based translocation detection assay to detect BCL1/JH t(11;14 (q13;q32 in 105 myeloma patients, and randomly selected 8 translocation positive samples for array comparative genomic hybridization (aCGH analysis. Our findings revealed 14.3% of myeloma samples were positive for BCL1/JH t(11;14 (q13;q32 translocation (n=15 of 105. We found no significant correlation between this translocation with age (P=0.420, gender (P=0.317, ethnicity (P=0.066 or new/relapsed status of multiple myeloma (P=0.412 at 95% confidence interval level by x2 test. In addition, aCGH results showed genomic imbalances in all samples analyzed. Frequent chromosomal gains were identified at regions 1q, 2q, 3p, 3q, 4p, 4q, 5q, 7q, 9q, 11q, 13q, 15q, 21q, 22q and Xq, while chromosomal losses were detected at 4q and 14q. Copy number variations at genetic loci that contain NAMPT, IVNS1ABP and STK17B genes are new findings that have not previously been reported in myeloma patients. Besides fluorescence in situ hybridization, PCR is another rapid, sensitive and simple technique that can be used for detecting BCL1/JH t(11;14(q13;q32 translocation in multiple myeloma patients. Genes located in the chromosomal aberration regions in our study, such as NAMPT, IVNS1ABP, IRF2BP2, PICALM, STAT1, STK17B, FBXL5, ACSL1, LAMP2, SAMSN1 and ATP8B4 might be potential prognostic markers and therapeutic targets in the treatment and management of multiple myeloma patients positive for BCL1/JH t(11;14 (q13;q32 translocation.

  16. 梗阻性黄疸与肠道菌群失调%Study of obstructive jaundice and intestinal flora imbalance

    Institute of Scientific and Technical Information of China (English)

    赵亮; 陈强谱

    2015-01-01

    梗阻性黄疸是临床上常见的病理状态,梗阻性黄疸患者术后高并发症发生率及死亡率一直是术后恢复过程中一大难题。目前,肠源性内毒素血症被认为是梗阻性黄疸预后不良的主要原因,而梗阻性黄疸时,致病菌大量繁殖,肠道菌群失调,内毒素移位是肠源性内毒素血症发生的主要机制。因此如何有效地控制梗阻性黄疸时的肠道菌群失调成为现今研究的热点。本文就梗阻性黄疸时肠道菌群的变化,如何进行干预,降低患者术后并发症的发生率及死亡率的最新进展进行综述,希望对梗阻性黄疸的治疗提供新的思路及对策。%Obstructive jaundice is a common clinical pathology. High incidence of complications and mortality postoperatively of patients with obstructive jaundice have always been a big problem in the recovery process. At present, the intestinal endotoxemia is considered to be the main cause of poor prognosis of obstructive jaundice, and a large number of breeding bacteria, intestinal flora imbalance, endotoxin translocation are the main mechanism of happening of intestinal endotoxemia. Therefore, how to effectively control the intestinal dysbacteriosis caused by obstructive jaundice is becoming a hot spot of current research. This paper studied how to intervene the change of intestinal flora caused by obstructive jaundice for reducing the incidence of postoperative complications and mortality rate, to hope that new train of thought and countermeasures could be developed for the treatment of obstructive jaundice.

  17. A new method for studying population genetics of cyst nematodes based on Pool-Seq and genomewide allele frequency analysis.

    Science.gov (United States)

    Mimee, Benjamin; Duceppe, Marc-Olivier; Véronneau, Pierre-Yves; Lafond-Lapalme, Joël; Jean, Martine; Belzile, François; Bélair, Guy

    2015-11-01

    Cyst nematodes are important agricultural pests responsible for billions of dollars of losses each year. Plant resistance is the most effective management tool, but it requires a close monitoring of population genetics. Current technologies for pathotyping and genotyping cyst nematodes are time-consuming, expensive and imprecise. In this study, we capitalized on the reproduction mode of cyst nematodes to develop a simple population genetic analysis pipeline based on genotyping-by-sequencing and Pool-Seq. This method yielded thousands of SNPs and allowed us to study the relationships between populations of different origins or pathotypes. Validation of the method on well-characterized populations also demonstrated that it was a powerful and accurate tool for population genetics. The genomewide allele frequencies of 23 populations of golden nematode, from nine countries and representing the five known pathotypes, were compared. A clear separation of the pathotypes and fine genetic relationships between and among global populations were obtained using this method. In addition to being powerful, this tool has proven to be very time- and cost-efficient and could be applied to other cyst nematode species.

  18. Study on allelism between blast resistance gene Pi-zh(t) in indica variety Zhaiyeqing 8(ZYQS) and known blast resistance gene

    Institute of Scientific and Technical Information of China (English)

    LEICailin; WANGJiulin; MAOShihong; ZHULihuang; LINGZhongzhuan

    1997-01-01

    One blast resistance gene Pi-zh(t) from indica-variety ZYQ8 was identified using molecular markers in 1992. Studies on the allelism between gene Pi-zh(t) and known blast resis tance genes was presented in this paper.

  19. Environmental Perceptions of Surface Water Quality and Management: a tool to strengthen public participation in the search for solutions to the imbalance of water in nature. A study applied in Chiapas's Río Fogótico Microbasin

    Science.gov (United States)

    Benez, M. C.; Kauffer Michel, E. F.

    2013-05-01

    The study of environmental perceptions can expose interstings aspects involved in imbalance of water in nature. The main objective of this study was to assess the perceptions of quality and management of surface water in the Fogótico River microbasin in San Cristóbal de Las Casas, Chiapas, from the perspective of differents social groups. Secondary objectives consisted in analyzing the differences of perception according to social groups and considering the potential contribution of perception studies for watershed management.; t;

  20. HLA-B*40 Allele Plays a Role in the Development of Acute Leukemia in Mexican Population: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Javier Fernández-Torres

    2013-01-01

    Full Text Available Among oncohematological diseases, acute lymphoid leukemia (ALL and acute myeloid leukemia (AML are characterized by the uncontrolled production and accumulation of blasts that can lead to death. Although the physiopathology of these diseases is multifactorial, a genetic factor seems to be at play. Several studies worldwide have shown association of ALL and AML with several alleles of the major histocompatibility complex (MHC. Objective. To determine gene frequencies of HLA-B alleles in Mexicans (individuals with Native American genetic background admixed with European descent with ALL and AML. Methods. We compared the HLA-B alleles in 213 patients with ALL and 85 patients with AML to those present in 731 umbilical cord blood (UCB samples as a control group; this was done by means of the PCR-SSP technique. Results. We found an increased frequency of the HLA-B*40 allele in ALL patients as compared to the control group (14.5% versus 9.84%, P=0.003, OR = 1.67; this was particularly evident in a subgroup of young (less than 18 years old ALL patients (P=0.002, OR = 1.76; likewise, a decreased frequency of HLA-B*40 allele in AML patients was observed as compared to the control group (4.70% versus 9.84%, P=0.02, OR = 0.42. Conclusions. These results might suggest opposing effects of the HLA-B*40 in the genetic susceptibility to develop ALL or AML and offer the possibility to study further the molecular mechanisms of cell differentiation within the bone marrow lineage.

  1. WIND TURBINE MASS AND AERODYNAMIC IMBALANCES DETERMINATION

    OpenAIRE

    Nduwayezu Eric; Mehmet Bayrak

    2015-01-01

    This paper evaluates the use of simulations to investigate wind turbine mass and aerodynamic imbalances. Faults caused by mass and aerodynamic imbalances constitute a significant portion of all faults in wind turbine. The aerodynamic imbalances effects such as deviations between the three blades pitch angle are often underrated and misunderstood. In practice, for many wind energy converters the blade adjustment is found to be sub-optimal. The dynamics of a model wind turbine was s...

  2. New Susceptibility and Resistance HLA-DP Alleles to HBV-Related Diseases Identified by a Trans-Ethnic Association Study in Asia

    Science.gov (United States)

    Kashiwase, Koichi; Minami, Mutsuhiko; Sugiyama, Masaya; Seto, Wai-Kay; Yuen, Man-Fung; Posuwan, Nawarat; Poovorawan, Yong; Ahn, Sang Hoon; Han, Kwang-Hyub; Matsuura, Kentaro; Tanaka, Yasuhito; Kurosaki, Masayuki; Asahina, Yasuhiro; Izumi, Namiki; Kang, Jong-Hon; Hige, Shuhei; Ide, Tatsuya; Yamamoto, Kazuhide; Sakaida, Isao; Murawaki, Yoshikazu; Itoh, Yoshito; Tamori, Akihiro; Orito, Etsuro; Hiasa, Yoichi; Honda, Masao; Kaneko, Shuichi; Mita, Eiji; Suzuki, Kazuyuki; Hino, Keisuke; Tanaka, Eiji; Mochida, Satoshi; Watanabe, Masaaki; Eguchi, Yuichiro; Masaki, Naohiko; Murata, Kazumoto; Korenaga, Masaaki; Mawatari, Yoriko; Ohashi, Jun; Kawashima, Minae; Tokunaga, Katsushi; Mizokami, Masashi

    2014-01-01

    Previous studies have revealed the association between SNPs located on human leukocyte antigen (HLA) class II genes, including HLA-DP and HLA-DQ, and chronic hepatitis B virus (HBV) infection, mainly in Asian populations. HLA-DP alleles or haplotypes associated with chronic HBV infection or disease progression have not been fully identified in Asian populations. We performed trans-ethnic association analyses of HLA-DPA1, HLA-DPB1 alleles and haplotypes with hepatitis B virus infection and disease progression among Asian populations comprising Japanese, Korean, Hong Kong, and Thai subjects. To assess the association between HLA-DP and chronic HBV infection and disease progression, we conducted high-resolution (4-digit) HLA-DPA1 and HLA-DPB1 genotyping in a total of 3,167 samples, including HBV patients, HBV-resolved individuals and healthy controls. Trans-ethnic association analyses among Asian populations identified a new risk allele HLA-DPB1*09∶01 (P = 1.36×10−6; OR = 1.97; 95% CI, 1.50–2.59) and a new protective allele DPB1*02∶01 (P = 5.22×10−6; OR = 0.68; 95% CI, 0.58–0.81) to chronic HBV infection, in addition to the previously reported alleles. Moreover, DPB1*02∶01 was also associated with a decreased risk of disease progression in chronic HBV patients among Asian populations (P = 1.55×10−7; OR = 0.50; 95% CI, 0.39–0.65). Trans-ethnic association analyses identified Asian-specific associations of HLA-DP alleles and haplotypes with HBV infection or disease progression. The present findings will serve as a base for future functional studies of HLA-DP molecules in order to understand the pathogenesis of HBV infection and the development of hepatocellular carcinoma. PMID:24520320

  3. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

    Science.gov (United States)

    Earp, Madalene A; Kelemen, Linda E; Magliocco, Anthony M; Swenerton, Kenneth D; Chenevix-Trench, Georgia; Lu, Yi; Hein, Alexander; Ekici, Arif B; Beckmann, Matthias W; Fasching, Peter A; Lambrechts, Diether; Despierre, Evelyn; Vergote, Ignace; Lambrechts, Sandrina; Doherty, Jennifer A; Rossing, Mary Anne; Chang-Claude, Jenny; Rudolph, Anja; Friel, Grace; Moysich, Kirsten B; Odunsi, Kunle; Sucheston-Campbell, Lara; Lurie, Galina; Goodman, Marc T; Carney, Michael E; Thompson, Pamela J; Runnebaum, Ingo B; Dürst, Matthias; Hillemanns, Peter; Dörk, Thilo; Antonenkova, Natalia; Bogdanova, Natalia; Leminen, Arto; Nevanlinna, Heli; Pelttari, Liisa M; Butzow, Ralf; Bunker, Clareann H; Modugno, Francesmary; Edwards, Robert P; Ness, Roberta B; du Bois, Andreas; Heitz, Florian; Schwaab, Ira; Harter, Philipp; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kjær, Susanne K; Høgdall, Claus K; Høgdall, Estrid; Lundvall, Lene; Sellers, Thomas A; Fridley, Brooke L; Goode, Ellen L; Cunningham, Julie M; Vierkant, Robert A; Giles, Graham G; Baglietto, Laura; Severi, Gianluca; Southey, Melissa C; Liang, Dong; Wu, Xifeng; Lu, Karen; Hildebrandt, Michelle A T; Levine, Douglas A; Bisogna, Maria; Schildkraut, Joellen M; Iversen, Edwin S; Weber, Rachel Palmieri; Berchuck, Andrew; Cramer, Daniel W; Terry, Kathryn L; Poole, Elizabeth M; Tworoger, Shelley S; Bandera, Elisa V; Chandran, Urmila; Orlow, Irene; Olson, Sara H; Wik, Elisabeth; Salvesen, Helga B; Bjorge, Line; Halle, Mari K; van Altena, Anne M; Aben, Katja K H; Kiemeney, Lambertus A; Massuger, Leon F A G; Pejovic, Tanja; Bean, Yukie T; Cybulski, Cezary; Gronwald, Jacek; Lubinski, Jan; Wentzensen, Nicolas; Brinton, Louise A; Lissowska, Jolanta; Garcia-Closas, Montserrat; Dicks, Ed; Dennis, Joe; Easton, Douglas F; Song, Honglin; Tyrer, Jonathan P; Pharoah, Paul D P; Eccles, Diana; Campbell, Ian G; Whittemore, Alice S; McGuire, Valerie; Sieh, Weiva; Rothstein, Joseph H; Flanagan, James M; Paul, James; Brown, Robert; Phelan, Catherine M; Risch, Harvey A; McLaughlin, John R; Narod, Steven A; Ziogas, Argyrios; Anton-Culver, Hoda; Gentry-Maharaj, Aleksandra; Menon, Usha; Gayther, Simon A; Ramus, Susan J; Wu, Anna H; Pearce, Celeste L; Pike, Malcolm C; Dansonka-Mieszkowska, Agnieszka; Rzepecka, Iwona K; Szafron, Lukasz M; Kupryjanczyk, Jolanta; Cook, Linda S; Le, Nhu D; Brooks-Wilson, Angela

    2014-05-01

    Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes. PMID:24190013

  4. Interdisciplinary approach on evaluation and sustainable usage of the water resources in the semi-arid Northwest Mexico to counter the imbalance of water: Case study Valle de Guadalupe, Baja California

    Science.gov (United States)

    Kretzschmar, T.; Hernandez, R.; Valenzuela, C.; Cabello, A.

    2012-12-01

    In the Baja California peninsula are several watersheds present, of which the hydrogeological conditions are of great importance to communities in the area. The Valle de Guadalupe watershed, for instance has a wine industry of national importance. Irrigation of crops is carried out exclusively with water from the aquifer, which consists of Quaternary sediments filling this depression of Post-Miocene age. Apart from the use of the aquifer by the wine industry, the water utility of Ensenada operates 10 drinking water wells with a total capacity of 320 L/s or 42% of supply in the valley. In the arid northern Mexico mountain front recharge is an important recharge source to the aquifers. Other important recharge sources are related to direct infiltration of the precipitation, recharge from runoff into streams (mountain block recharge) and the provision by active faults. The knowledge of the aquifer is crucial to maintain sustainable management of water resources in the Valle de Guadalupe. This intense use of water resources is reflected in a degradation of the aquifer water quality and reduced water table. The integrated approach for a sustainable evaluation and usage of the aquifer includes besides the hydrogeological evaluation, the determination of the water stress on the vineyards as well as the usage of treated waste water as alternative resource as well the evaluation of the effects of climatic variations and measurement and modeling of the vegetation, the main interface between atmosphere and soil, affecting the hydrology in the process of interception, infiltration, runoff and evapotranspiration. With these detailed ongoing studies we expect to identify and counter imbalance of water in the study area. This requires 1) modeling and hydrogeological studies for the determination of the present and future imbalance 2) estimation of the impacts of industrial activities on water resources 3) characterization of alternative water sources, 4) optimization of the water

  5. Study of IQ imbalance in a single-side band radio-over-fiber system based on OFDM-MSK modulation

    Science.gov (United States)

    Li, Xinying; Shao, Yufeng; Fang, Wuliang; Huang, Bo; Zhang, Junwen; Zou, Shumin; Hou, Chunning; Fang, Yuan; Liu, Xiao; Zheng, Xi; Chi, Nan

    2010-12-01

    We propose and simulate a single-side band (SSB) Radio-over-Fiber ( RoF ) system based on OFDM-MSK modulation. In-phase/quadrature-phase (IQ) imbalance effect can significantly degrade the system performance. In order to obtain a better system performance, at the transmitter, the phase departure tolerance should be within 1 degree and the amplitude departure tolerance should be within 5% in the electrical domain, the phase departure tolerance should be within 10 degrees and the amplitude departure tolerance should be within 40% in the optical domain, the departure tolerance of splitting ratio should be within +/-12%, and at the same time, time misalignment should be within +/-32ps. At the receiver, the phase departure tolerance should be within 2 degrees and the amplitude departure tolerance should be within 10%. Furthermore, it's further found that the electrical part of the transmitter presents a stricter requirement on the IQ balance than the receiver, while the receiver presents a stricter requirement on the IQ balance than the optical part of the transmitter.

  6. Applicability of major histocompatibility complex DRB1 alleles as markers to detect vertebrate hybridization: a case study from Iberian ibex × domestic goat in southern Spain

    Directory of Open Access Journals (Sweden)

    Alasaad Samer

    2012-09-01

    Full Text Available Abstract Background Hybridization between closely related wild and domestic species is of great concern because it can alter the evolutionary integrity of the affected populations. The high allelic variability of Major Histocompatibility Complex (MHC loci usually excludes them from being used in studies to detect hybridization events. However, if a the parental species don’t share alleles, and b one of the parental species possesses an exceptionally low number of alleles (to facilitate analysis, then even MHC loci have the potential to detect hybrids. Results By genotyping the exon2 of the MHC class II DRB1 locus, we were able to detect hybridization between domestic goats (Capra hircus and free-ranging Iberian ibex (Capra pyrenaica hispanica by molecular means. Conclusions This is the first documentation of a Capra pyrenaica × Capra hircus hybridization, which presented us the opportunity to test the applicability of MHC loci as new, simple, cost-effective, and time-saving approach to detect hybridization between wild species and their domesticated relatives, thus adding value to MHC genes role in animal conservation and management.

  7. Earth's energy imbalance and implications

    Directory of Open Access Journals (Sweden)

    J. Hansen

    2011-12-01

    Full Text Available Improving observations of ocean heat content show that Earth is absorbing more energy from the Sun than it is radiating to space as heat, even during the recent solar minimum. The inferred planetary energy imbalance, 0.58 ± 0.15 W m−2 during the 6-yr period 2005–2010, confirms the dominant role of the human-made greenhouse effect in driving global climate change. Observed surface temperature change and ocean heat gain together constrain the net climate forcing and ocean mixing rates. We conclude that most climate models mix heat too efficiently into the deep ocean and as a result underestimate the negative forcing by human-made aerosols. Aerosol climate forcing today is inferred to be −1.6 ± 0.3 W m−2, implying substantial aerosol indirect climate forcing via cloud changes. Continued failure to quantify the specific origins of this large forcing is untenable, as knowledge of changing aerosol effects is needed to understand future climate change. We conclude that recent slowdown of ocean heat uptake was caused by a delayed rebound effect from Mount Pinatubo aerosols and a deep prolonged solar minimum. Observed sea level rise during the Argo float era is readily accounted for by ice melt and ocean thermal expansion, but the ascendency of ice melt leads us to anticipate acceleration of the rate of sea level rise this decade.

  8. Earth's Energy Imbalance and Implications

    CERN Document Server

    Hansen, James; Kharecha, Pushker; von Schuckmann, Karina

    2011-01-01

    Improving observations of ocean temperature confirm that Earth is absorbing more energy from the sun than it is radiating to space as heat, even during the recent solar minimum. The inferred planetary energy imbalance, 0.59 \\pm 0.15 W/m2 during the 6-year period 2005-2010, provides fundamental verification of the dominant role of the human-made greenhouse effect in driving global climate change. Observed surface temperature change and ocean heat gain constrain the net climate forcing and ocean mixing rates. We conclude that most climate models mix heat too efficiently into the deep ocean and as a result underestimate the negative forcing by human-made aerosols. Aerosol climate forcing today is inferred to be -1.6 \\pm 0.3 W/m2, implying substantial aerosol indirect climate forcing via cloud changes. Continued failure to quantify the specific origins of this large forcing is untenable, as knowledge of changing aerosol effects is needed to understand future climate change. A recent decrease in ocean heat uptake ...

  9. Earth's energy imbalance and implications

    Directory of Open Access Journals (Sweden)

    J. Hansen

    2011-09-01

    Full Text Available Improving observations of ocean heat content show that Earth is absorbing more energy from the sun than it is radiating to space as heat, even during the recent solar minimum. The inferred planetary energy imbalance, 0.59 ± 0.15 W m−2 during the 6-year period 2005–2010, confirms the dominant role of the human-made greenhouse effect in driving global climate change. Observed surface temperature change and ocean heat gain together constrain the net climate forcing and ocean mixing rates. We conclude that most climate models mix heat too efficiently into the deep ocean and as a result underestimate the negative forcing by human-made aerosols. Aerosol climate forcing today is inferred to be −1.6 ± 0.3 W m−2, implying substantial aerosol indirect climate forcing via cloud changes. Continued failure to quantify the specific origins of this large forcing is untenable, as knowledge of changing aerosol effects is needed to understand future climate change. We conclude that recent slowdown of ocean heat uptake was caused by a delayed rebound effect from Mount Pinatubo aerosols and a deep prolonged solar minimum. Observed sea level rise during the Argo float era is readily accounted for by ice melt and ocean thermal expansion, but the ascendency of ice melt leads us to anticipate acceleration of the rate of sea level rise this decade.

    Humanity is potentially vulnerable to global temperature change, as discussed in the Intergovernmental Panel on Climate Change (IPCC, 2001, 2007 reports and by innumerable authors. Although climate change is driven by many climate forcing agents and the climate system also exhibits unforced (chaotic variability, it is now widely agreed that the strong global warming trend of recent decades is caused predominantly by human-made changes of atmospheric composition (IPCC, 2007.

    The basic physics underlying this global warming, the greenhouse effect, is simple. An increase of gases

  10. The type 2 diabetes risk allele of TMEM154-rs6813195 associates with decreased beta cell function in a study of 6,486 Danes.

    Directory of Open Access Journals (Sweden)

    Marie Neergaard Harder

    Full Text Available A trans-ethnic meta-analysis of type 2 diabetes genome-wide association studies has identified seven novel susceptibility variants in or near TMEM154, SSR1/RREB1, FAF1, POU5F1/TCF19, LPP, ARL15 and ABCB9/MPHOSPH9. The aim of our study was to investigate associations between these novel risk variants and type 2 diabetes and pre-diabetic traits in a Danish population-based study with measurements of plasma glucose and serum insulin after an oral glucose tolerance test in order to elaborate on the physiological impact of the variants.Case-control analyses were performed in up to 5,777 patients with type 2 diabetes and 7,956 individuals with normal fasting glucose levels. Quantitative trait analyses were performed in up to 5,744 Inter99 participants naïve to glucose-lowering medication. Significant associations between TMEM154-rs6813195 and the beta cell measures insulinogenic index and disposition index and between FAF1-rs17106184 and 2-hour serum insulin levels were selected for further investigation in additional Danish studies and results were combined in meta-analyses including up to 6,486 Danes.We confirmed associations with type 2 diabetes for five of the seven SNPs (TMEM154-rs6813195, FAF1-rs17106184, POU5F1/TCF19-rs3130501, ARL15-rs702634 and ABCB9/MPHOSPH9-rs4275659. The type 2 diabetes risk C-allele of TMEM154-rs6813195 associated with decreased disposition index (n=5,181, β=-0.042, p=0.012 and insulinogenic index (n=5,181, β=-0.032, p=0.043 in Inter99 and these associations remained significant in meta-analyses including four additional Danish studies (disposition index n=6,486, β=-0.042, p=0.0044; and insulinogenic index n=6,486, β=-0.037, p=0.0094. The type 2 diabetes risk G-allele of FAF1-rs17106184 associated with increased levels of 2-hour serum insulin (n=5,547, β=0.055, p=0.017 in Inter99 and also when combining effects with three additional Danish studies (n=6,260, β=0.062, p=0.0040.Studies of type 2 diabetes intermediary

  11. The Type 2 Diabetes Risk Allele of TMEM154-rs6813195 Associates with Decreased Beta Cell Function in a Study of 6,486 Danes

    DEFF Research Database (Denmark)

    Balslev-Harder, Marie; Appel, Emil Vincent Rosenbaum; Grarup, Niels;

    2015-01-01

    risk variants and type 2 diabetes and pre-diabetic traits in a Danish population-based study with measurements of plasma glucose and serum insulin after an oral glucose tolerance test in order to elaborate on the physiological impact of the variants. METHODS: Case-control analyses were performed in up...... of the seven SNPs (TMEM154-rs6813195, FAF1-rs17106184, POU5F1/TCF19-rs3130501, ARL15-rs702634 and ABCB9/MPHOSPH9-rs4275659). The type 2 diabetes risk C-allele of TMEM154-rs6813195 associated with decreased disposition index (n=5,181, β=-0.042, p=0.012) and insulinogenic index (n=5,181, β=-0.032, p=0.......043) in Inter99 and these associations remained significant in meta-analyses including four additional Danish studies (disposition index n=6,486, β=-0.042, p=0.0044; and insulinogenic index n=6,486, β=-0.037, p=0.0094). The type 2 diabetes risk G-allele of FAF1-rs17106184 associated with increased levels of 2...

  12. The Effect of CYP2B6, CYP2D6, and CYP3A4 Alleles on Methadone Binding: A Molecular Docking Study

    Directory of Open Access Journals (Sweden)

    Nik Nur Syazana Bt Nik Mohamed Kamal

    2013-01-01

    Full Text Available Current methadone maintenance therapy (MMT is yet to ensure 100% successful treatment as the optimum dosage has yet to be determined. Overdose leads to death while lower dose causes the opioid withdrawal effect. Single-nucleotide polymorphisms (SNP in cytochrome P450s (CYPs, the methadone metabolizers, have been showen to be the main factor for the interindividual variability of methadone clinical effects. In this study, we investigated the effect of SNPs in three major methadone metabolizers (CYP2B6, CYP2D6, and CYP3A4 on methadone binding affinity. Results showed that CYP2B6*11, CYP2B6*12, CYP2B6*18, and CYP3A4*12 have significantly higher binding affinity to R-methadone compared to wild type. S-methadone has higher binding affinity in CYP3A4*3, CYP3A4*11, and CYP3A4*12 compared to wild type. R-methadone was shown to be the active form of methadone; thus individuals with CYP alleles that binds better to R-methadone will have higher methadone metabolism rate. Therefore, a higher dosage of methadone is necessary to obtain the opiate effect compared to a normal individual and vice versa. These results provide an initial prediction on methadone metabolism rate for individuals with mutant type CYP which enables prescription of optimum methadone dosage for individuals with CYP alleles.

  13. Spinal sagittal imbalance in patients with lumbar disc herniation: its spinopelvic characteristics, strength changes of the spinal musculature and natural history after lumbar discectomy

    OpenAIRE

    Liang, Chen; Sun, Jianmin; Cui, Xingang; Jiang, Zhensong; Zhang, Wen; Li, Tao

    2016-01-01

    Background Spinal sagittal imbalance is a widely acknowledged problem, but there is insufficient knowledge regarding its occurrence. In some patients with lumbar disc herniation (LDH), their symptom is similar to spinal sagittal imbalance. The aim of this study is to illustrate the spinopelvic sagittal characteristics and identity the role of spinal musculature in the mechanism of sagittal imbalance in patients with LDH. Methods Twenty-five adults with spinal sagittal imbalance who initially ...

  14. High resolution human leukocyte antigen (HLA class I and class II allele typing in Mexican mestizo women with sporadic breast cancer: case-control study

    Directory of Open Access Journals (Sweden)

    Barquera Rodrigo

    2009-02-01

    Full Text Available Abstract Background The development of breast cancer is multifactorial. Hormonal, environmental factors and genetic predisposition, among others, could interact in the presentation of breast carcinoma. Human leukocyte antigen (HLA alleles play an important role in immunity (cellular immunity and may be important genetic traits. HLAAllele-specific interaction has not been well established. Recently, several studies had been conducted in order to do so, but the results are controversial and in some instances contradictory. Methods We designed a case-control study to quantify the association of HLA class I and II genes and breast cancer. HLA typing was performed by high resolution sequence-specific oligotyping after DNA amplification (PCR-SSOP of 100 breast cancer Mexican mestizo patients and 99 matched healthy controls. Results HLA-A frequencies that we were able to observe that there was no difference between both groups from the statistical viewpoint. HLA-B*1501 was found three times more common in the case group (OR, 3.714; p = 0.031. HLA-Cw is not a marker neither for risk, nor protection for the disease, because we did not find significant statistical differences between the two groups. DRB1*1301, which is expressed in seven cases and in only one control, observing an risk increase of up to seven times and DRB1*1602, which behaves similarly in being present solely in the cases (OR, 16.701; 95% CI, 0.947 – 294.670. DQ*0301-allele expression, which is much more common in the control group and could be protective for the presentation of the disease (OR, 0.078; 95% CI, 0.027–0.223, p = 0.00001. Conclusion Our results reveal the role of the MHC genes in the pathophysiology of breast cancer, suggesting that in the development of breast cancer exists a disorder of immune regulation. The triggering factor seems to be restricted to certain ethnic groups and certain geographical regions since the relevant MHC alleles are highly diverse. This is the

  15. High resolution human leukocyte antigen (HLA) class I and class II allele typing in Mexican mestizo women with sporadic breast cancer: case-control study

    International Nuclear Information System (INIS)

    The development of breast cancer is multifactorial. Hormonal, environmental factors and genetic predisposition, among others, could interact in the presentation of breast carcinoma. Human leukocyte antigen (HLA) alleles play an important role in immunity (cellular immunity) and may be important genetic traits. HLAAllele-specific interaction has not been well established. Recently, several studies had been conducted in order to do so, but the results are controversial and in some instances contradictory. We designed a case-control study to quantify the association of HLA class I and II genes and breast cancer. HLA typing was performed by high resolution sequence-specific oligotyping after DNA amplification (PCR-SSOP) of 100 breast cancer Mexican mestizo patients and 99 matched healthy controls. HLA-A frequencies that we were able to observe that there was no difference between both groups from the statistical viewpoint. HLA-B*1501 was found three times more common in the case group (OR, 3.714; p = 0.031). HLA-Cw is not a marker neither for risk, nor protection for the disease, because we did not find significant statistical differences between the two groups. DRB1*1301, which is expressed in seven cases and in only one control, observing an risk increase of up to seven times and DRB1*1602, which behaves similarly in being present solely in the cases (OR, 16.701; 95% CI, 0.947 – 294.670). DQ*0301-allele expression, which is much more common in the control group and could be protective for the presentation of the disease (OR, 0.078; 95% CI, 0.027–0.223, p = 0.00001). Our results reveal the role of the MHC genes in the pathophysiology of breast cancer, suggesting that in the development of breast cancer exists a disorder of immune regulation. The triggering factor seems to be restricted to certain ethnic groups and certain geographical regions since the relevant MHC alleles are highly diverse. This is the first study in Mexican population where high resolutions HLA

  16. Allele coding in genomic evaluation

    DEFF Research Database (Denmark)

    Standen, Ismo; Christensen, Ole Fredslund

    2011-01-01

    coding methods imply different models. Finally, allele coding affects the mixing of Markov chain Monte Carlo algorithms, with the centered coding being the best. \\paragraph*{Conclusions:} Different allele coding methods lead to the same inference in the marker-based and equivalent models when a fixed...... effects. In the second approach, genomic breeding values are estimated directly using an equivalent model with a genomic relationship matrix. Allele coding is the method chosen to assign values to the regression coefficients in the statistical model. A common allele coding is zero for the homozygous...... genotype of the first allele, one for the heterozygote, and two for the homozygous genotype for the other allele. Another common allele coding changes these regression coefficients by subtracting a value from each marker such that the mean of regression coefficients is zero within each marker. We call...

  17. Thermodynamics of quark matter with a chiral imbalance

    Science.gov (United States)

    Farias, Ricardo L. S.; Duarte, Dyana C.; Krein, Gastão; Ramos, Rudnei O.

    2016-10-01

    We show how a scheme of rewriting a divergent momentum integral can conciliate results obtained with the Nambu-Jona-Lasinio model and recent lattice results for the chiral transition in the presence of a chiral imbalance in quark matter. Purely vacuum contributions are separated from medium-dependent regularized momentum integrals in such a way that one is left with ultraviolet divergent momentum integrals that depend on vacuum quantities only. The scheme is applicable to other commonly used effective models to study quark matter with a chiral imbalance, it allows us to identify the source of their difficulties in reproducing the qualitative features of lattice results, and enhances their predictability and uses in other applications.

  18. Studies of DNA repair in saccharomyces cerevisiae. I. Characterization of a new allele of RAD6. II. Investigation of events in the first cell cycle after DNA damage

    International Nuclear Information System (INIS)

    Studies in two independent, but related, areas of DNA repair have been carried out in Saccharomyces cerevisiae; characterization of a new allele in the RAD6 gene which suggests that the gene is multifunctional, and utilization of photoreactivation as a probe of events occurring during the first cell cycle after DNA damage. Strains carrying the new allele, designated rad6-4, are as sensitive to uv and ionizing radiation as those carrying rad6-1 or rad6-3 but, unlike them, are capable of induced mutagenesis and sporulation. Although rad6-4 may well be a missense mutation, the evidence shows that it is unlikely that this phenotype is due to leakiness. Instead, the data suggest that the RAD6 gene is multifunctional. One function is necessary to recover from DNA damage in an error-free manner, and the other is concerned with mutagenic processes and sporulation. Rad6-1 and rad6-3 strains are deficient in both of these functions, while rad6-4 strains are deficient only in the error-free function. The loss of photoreversibility (LOP) of ultraviolet induced mutations to arginine independence in an excision defective strain carrying arg4-17 examines the events occurring in the first cell cycle after DNA damage. LOP is dependent upon de novo protein synthesis. LOP begins immediately after UV irradiation, before semiconservative DNA synthesis takes place, and is complete after four hours in growth medium.There is no evidence indicating whether the normal function of the protein is involved in excision repair, or in one of the two repair processes believed to be inducible; induced mutagenesis or recombinational repair

  19. Systemic Redox Imbalance in Chronic Kidney Disease: A Systematic Review

    Science.gov (United States)

    Kaltsatou, Antonia; Jamurtas, Athanasios Z.; Koutedakis, Yiannis; Stefanidis, Ioannis; Sakkas, Giorgos K.

    2016-01-01

    Patients with chronic kidney disease (CKD) experience imbalance between oxygen reactive species (ROS) production and antioxidant defenses leading to cell and tissue damage. However, it remains unclear at which stage of renal insufficiency the redox imbalance becomes more profound. The aim of this systematic review was to provide an update on recent advances in our understanding of how the redox status changes in the progression of renal disease from predialysis stages 1 to 4 to end stage 5 and whether the various treatments and dialysis modalities influence the redox balance. A systematic review was conducted searching PubMed and Scopus by using the Cochrane and PRISMA guidelines. In total, thirty-nine studies met the inclusion criteria and were reviewed. Even from an early stage, imbalance in redox status is evident and as the kidney function worsens it becomes more profound. Hemodialysis therapy per se seems to negatively influence the redox status by the elevation of lipid peroxidation markers, protein carbonylation, and impairing erythrocyte antioxidant defense. However, other dialysis modalities do not so far appear to confer advantages. Supplementation with antioxidants might assist and should be considered as an early intervention to halt premature atherogenesis development at an early stage of CKD. PMID:27563376

  20. Systemic Redox Imbalance in Chronic Kidney Disease: A Systematic Review.

    Science.gov (United States)

    Poulianiti, Konstantina P; Kaltsatou, Antonia; Mitrou, Georgia I; Jamurtas, Athanasios Z; Koutedakis, Yiannis; Maridaki, Maria; Stefanidis, Ioannis; Sakkas, Giorgos K; Karatzaferi, Christina

    2016-01-01

    Patients with chronic kidney disease (CKD) experience imbalance between oxygen reactive species (ROS) production and antioxidant defenses leading to cell and tissue damage. However, it remains unclear at which stage of renal insufficiency the redox imbalance becomes more profound. The aim of this systematic review was to provide an update on recent advances in our understanding of how the redox status changes in the progression of renal disease from predialysis stages 1 to 4 to end stage 5 and whether the various treatments and dialysis modalities influence the redox balance. A systematic review was conducted searching PubMed and Scopus by using the Cochrane and PRISMA guidelines. In total, thirty-nine studies met the inclusion criteria and were reviewed. Even from an early stage, imbalance in redox status is evident and as the kidney function worsens it becomes more profound. Hemodialysis therapy per se seems to negatively influence the redox status by the elevation of lipid peroxidation markers, protein carbonylation, and impairing erythrocyte antioxidant defense. However, other dialysis modalities do not so far appear to confer advantages. Supplementation with antioxidants might assist and should be considered as an early intervention to halt premature atherogenesis development at an early stage of CKD. PMID:27563376

  1. Money and age in schools: Bullying and power imbalances.

    Science.gov (United States)

    Chaux, Enrique; Castellanos, Melisa

    2014-09-12

    School bullying continues to be a serious problem around the world. Thus, it seems crucial to clearly identify the risk factors associated with being a victim or a bully. The current study focused in particular on the role that age and socio-economic differences between classmates could play on bullying. Logistic and multilevel analyses were conducted using data from 53,316 5th and 9th grade students from a representative sample of public and private Colombian schools. Higher age and better family socio-economic conditions than classmates were risk factors associated with being a bully, while younger age and poorer socio-economic conditions than classmates were associated with being a victim of bullying. Coming from authoritarian families or violent neighborhoods, and supporting beliefs legitimizing aggression, were also associated with bullying and victimization. Empathy was negatively associated with being a bully, and in some cases positively associated with being a victim. The results highlight the need to take into account possible sources of power imbalances, such as age and socio-economic differences among classmates, when seeking to prevent bullying. In particular, interventions focused on peer group dynamics might contribute to avoid power imbalances or to prevent power imbalances from becoming power abuse. Aggr. Behav. 9999:XX-XX, 2014. © 2014 Wiley Periodicals, Inc. PMID:25219327

  2. Yule-generated trees constrained by node imbalance.

    Science.gov (United States)

    Disanto, Filippo; Schlizio, Anna; Wiehe, Thomas

    2013-11-01

    The Yule process generates a class of binary trees which is fundamental to population genetic models and other applications in evolutionary biology. In this paper, we introduce a family of sub-classes of ranked trees, called Ω-trees, which are characterized by imbalance of internal nodes. The degree of imbalance is defined by an integer 0 ≤ ω. For caterpillars, the extreme case of unbalanced trees, ω = 0. Under models of neutral evolution, for instance the Yule model, trees with small ω are unlikely to occur by chance. Indeed, imbalance can be a signature of permanent selection pressure, such as observable in the genealogies of certain pathogens. From a mathematical point of view it is interesting to observe that the space of Ω-trees maintains several statistical invariants although it is drastically reduced in size compared to the space of unconstrained Yule trees. Using generating functions, we study here some basic combinatorial properties of Ω-trees. We focus on the distribution of the number of subtrees with two leaves. We show that expectation and variance of this distribution match those for unconstrained trees already for very small values of ω.

  3. Education in the imbalance of Nature

    Science.gov (United States)

    Shlafman, L. M.; Kontar, V. A.

    2013-12-01

    There are two concepts understanding of the real Nature: balanced and imbalanced. The traditional balanced concept understanding of Nature was originated in prehistoric times to calm the frightened souls of prehistoric man and manage groups of people. The balanced concept presupposes that Nature is isotropic, balanced, etc. The balanced concept of understanding of Nature gradually has moved to science and technology. The balanced concept of understanding of Nature is dominating from the prehistoric time up to today. But always parallel and opposite was exists the concept imbalanced understanding of Nature, which presupposes that Nature is anisotropy, imbalanced, etc. The balanced concept is much simpler than Imbalanced. The balanced concept has given mankind a lot of rough description of Nature which helped to solve a lot of practical problems but with sufficient accuracy, i.e. approximately, but not with an absolute precision. While people were few, and a lot of resources, person could take from Nature only what Nature gave willingly. During this period, people feared and respected Nature and Nature was able easily compensate the activity of people. The high accuracy of the description of Nature was not needed when resources were plentiful and people were few. But now the situation is completely different. The population has become a very large and growing. Traditional resources are almost run out and the lack of resources escalates. People are not afraid of Nature and bravely try to take by force what Nature does not give voluntarily. People invaded into imbalance Nature, and Nature can no longer compensate activity of people. The era of global change is started, including those that man provokes. In the conditions of global changes is insufficiently of the approximate solutions of the traditional balanced concept. The balanced concept is exhausted, and increasingly misleads people. The balanced concept cannot solve the problems that arise in the global change

  4. Improvements in dizziness and imbalance results from using a multi disciplinary and multi sensory approach to Vestibular Physical Therapy - A case study

    Directory of Open Access Journals (Sweden)

    Kim R Gottshall

    2015-08-01

    Full Text Available This paper discusses a case study of a 41 year old active duty male service member who sustained a motorcycle accident and head trauma and underwent multidisciplinary vestibular physical therapy for treatment. He was initially treated with traditional physical therapy applications of treadmill walking and standing balance with some symptom improvements, but was not able to maintain a running speed that would allow him to remain on active duty status. Further treatment utilizing a Computer Assisted Rehabilitation Environment (CAREN was performed in order to increase difficulty levels and recover more functionality. This treatment is able to elicit vestibular deficits seen in the community as it requires subjects to walk and balance while performing tasks within a virtual scenario with platform motion, visual surround and flow, and cognitive processing. After six weeks of therapy, twice weekly, improvements in clinical vestibular measures were observed as well as walking speed and patient confidence. The subject was able to return to full duty after treatment. This case study provides supportive evidence that multidimensional tasking in a virtual environment provides a safe but demanding form of vestibular therapy for patients needing more challenging tasks than those provided with traditional therapy techniques. Those persons requiring higher levels of performance before returning to work (e.g. pilots, special operators, etc. may find this type of therapy beneficial.

  5. Examination of Potential Benefits of an Energy Imbalance Market in the Western Interconnection

    Energy Technology Data Exchange (ETDEWEB)

    Milligan, M.; Clark, K.; King, J.; Kirby, B.; Guo, T.; Liu, G.

    2013-03-01

    In the Western Interconnection, there is significant interest in improving approaches to wide-area coordinated operations of the bulk electric power system, in part because of the increasing penetration of variable generation. One proposed solution is an energy imbalance market. This study focused on that approach alone, with the goal of identifying the potential benefits of an energy imbalance market in the year 2020.

  6. A GIS-based methodology for highlighting fuelwood supply/demand imbalances at the local level: A case study for Central Mexico

    Energy Technology Data Exchange (ETDEWEB)

    Ghilardi, Adrian; Guerrero, Gabriela; Masera, Omar [CIECO, Center for Ecosystems Research, Universidad Nacional Autonoma de Mexico, Antigua carretera a Patzcuaro 8701, 58 190 Morelia (Mexico)

    2009-06-15

    When fuelwood is harvested at a rate exceeding natural growth and inefficient conversion technologies are used, negative environmental and socio-economic impacts, such as fuelwood shortages, natural forests degradation and net GHG emissions arise. In this study, we argue that analyzing fuelwood supply/demand spatial patterns require multi-scale approaches to effectively bridge the gap between national results with local situations. The proposed methodology is expected to help 1) focusing resources and actions on local critical situations, starting from national wide analyses and 2) estimating, within statistically robust confidence bounds, the proportion of non-renewable harvested fuelwood. Starting from a previous work, we selected a county-based fuelwood hot spot in the Central Highlands of Mexico, identified from a national wide assessment, and developed a grid-based model in order to identify single localities that face concomitant conditions of high fuelwood consumption and insufficient fuelwood resources. By means of a multi-criteria analysis (MCA), twenty localities, out of a total of 90, were identified as critical in terms of six indicators related to fuelwood use and availability of fuelwood resources. Fuelwood supply/demand balances varied among localities from -16.2 {+-} 2.5 Gg y{sup -1} to 4.4 {+-} 2.6 Gg y{sup -1}, while fractions of non-renewable fuelwood varied from 0 to 96%. These results support the idea that balances and non-renewable fuelwood fractions (mandatory inputs for Clean Development Mechanism (CDM) cookstoves projects) must be calculated on a locality by locality basis if gross under or over-estimations want to be avoided in the final carbon accounting. (author)

  7. Analysis and compensation of I/Q imbalance in amplify-and-forward cooperative systems

    KAUST Repository

    Qi, Jian

    2012-04-01

    In this paper, dual-hop amplify-and-forward (AF) cooperative systems in the presence of in-phase and quadrature-phase (I/Q) imbalance, which refers to the mismatch between components in I and Q branches, are investigated. First, we analyze the performance of the considered AF cooperative protocol without compensation for I/Q imbalance as the benchmark. Furthermore, a compensation algorithm for I/Q imbalance is proposed, which makes use of the received signals at the destination, from the source and relay nodes, together with their conjugations to detect the transmitted signal. The performance of the AF cooperative system under study is evaluated in terms of average symbol error probability (SEP), which is derived considering transmission over Rayleigh fading channels. Numerical results are provided and show that the proposed compensation algorithm can efficiently mitigate the effect of I/Q imbalance. © 2012 IEEE.

  8. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

    DEFF Research Database (Denmark)

    Earp, Madalene A; Kelemen, Linda E; Magliocco, Anthony M;

    2014-01-01

    Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by...

  9. Rescuing the concept of vertical fiscal imbalance

    OpenAIRE

    Sharma, Chanchal Kumar

    2007-01-01

    This article restores the concept of vertical fiscal imbalance (VFI) to its original meaning. The literature shows that there is neither a universally accepted definition of VFI nor a commonly accepted approach to measuring it. Estimates of VFI are derived, much like accounting or deficit measurements, by comparing the revenues and expenditures of two levels of government. VFI is, however, too nuanced an issue to be described by this kind of national accounting procedure. We argue that ease ...

  10. Global imbalances, saving glut and investment strike.

    OpenAIRE

    Moëc, G.; Frey, L

    2006-01-01

    The present state of the global economy is characterised by persistent and increasingly polarised current account imbalances, in a context of historically low long-term interest rates, which stand below the equilibrium levels proxied by potential growth and trend inflation. A comprehensive analysis by Ben Bernanke1 attributes those two phenomena to one common cause: a global saving glut outside the United States. The approach below is more pessimistic than the global saving glut theory as far...

  11. GENDER IMBALANCE IN HARYANA: A STUDY

    OpenAIRE

    Anjana Nagpal

    2015-01-01

    Prime Minister, Narender Modi, chose Haryana to launch his nationwide campaign of ‘Beti Bachao, Beti Padhao’ in January this year. Unfortunately, it’s not a feather in the cap as Haryana was chosen for this ‘campaign for saving the girl child’, for having one of the worst sex ratio and child sex ratio in the country. The census of 2011 recorded 827 females for every 1000 males in Haryana. The child sex ratio was equally saddening at 830 number of girls per 1000 boys between 0 to 6 years of ag...

  12. Financial Imbalances and Macro-prudential Policies

    Directory of Open Access Journals (Sweden)

    Polikarpova Olga S.

    2015-11-01

    Full Text Available The credit crisis and its transformation into a sovereign debt crisis have illustrated the limited character of the traditional macro financial politics. The financial crisis has shown that the priority of price stability does not guarantee macroeconomic stability. Revision of the goals and objectives of the monetary and credit policy is being carried out in many countries. In order to ensure macroeconomic stability, central banks have to use new instruments considering financial stability as an additional object. Since 2009 the IMF recommends central banks to use macro-prudential instruments for reducing macro-financial risks and imbalances in the financial system structure. The effectiveness of macro-prudential policy depends on its calibration with the monetary and credit policy. The growth of financial imbalances in the first decade after the adoption of the euro, presence of contradictory fiscal policies, deployment of a spiral of rapid crediting and price inflation have led to apraxia in the monetary and credit policy, and fiscal policy was limited by institutional arrangements. Accumulating funds during the budget surplus the countries-members of the European Monetary System (EMS attempted to reduce asymmetric shocks. The priority of price stability in the EMS had been achieved but the economies of these countries suffered from financial imbalances. Macro-prudential policy is aimed at prevention and mitigation of systemic risk, plays a significant role in reforming the new policy of central banks. That is why European countries are developing new methods and an institutional framework for the implementation of a new macro-prudential policy. Problems of structural arbitration and the possibility of emergence of new financial imbalances in the EMS are becoming increasingly real. The flow of financial capitals and financial institutions to more lenient jurisdictions is connected with the establishment of macro-prudential policy. The macro

  13. 后危机时代中国外向型经济发展失衡困境的再审视%Re-studying on Chinese export-oriented economy imbalance in post-crisis times

    Institute of Scientific and Technical Information of China (English)

    徐增文

    2011-01-01

    21世纪以来,全球经济失衡不断加剧。当前,各国经济因内、外部失衡交织而成的各种矛盾不断地渗透,已全面融入世界生产体系的中国外向型经济中。中国外向型经济日益显现出在生态环境、贸易结构、比较优势、财富管理等方面不均衡发展的困境。在后危机时代,需要重新审视我国外向型经济发展中的失衡困境、并探寻其多元化成因,以推进我国外向型经济在世界新格局下的可持续性发展。%In the wake of 21Stcentury, the state with global economy imbalance is aggravated. The disorders, caused by unbalanced economic development of all countries, have been penetrating into Chinese export-oriented economy. They are chiefly manifested in the rapid but unbalanced development of ecological environment, trade structure, comparative advantage and wealth management. In post-crisis times, it is necessary to re-study the problems on our export-oriented economy. On the analysis of its formation, some measures are put forward to achieve a sustainable development of our export-oriented economy in the new world pattern.

  14. An Algorithm to Evaluate Imbalances of Quadrature Mixers

    Science.gov (United States)

    Asami, Koji; Arai, Michiaki

    It is essential, as bandwidths of wireless communications get wider, to evaluate the imbalances among quadrature mixer ports, in terms of carrier phase offset, IQ gain imbalance, and IQ skew. Because it is time consuming to separate skew, gain imbalance and carrier phase offset evaluation during test is often performed using a composite value, without separation of the imbalance factors. This paper describes an algorithm for enabling separation among quadrature mixer gain imbalance, carrier phase offset, and skew. Since the test time is reduced by the proposed method, it can be applied during high volume production testing.

  15. Detection of cis-acting regulatory SNPs using allelic expression data

    OpenAIRE

    Xiao, Rui; Scott, Laura J.

    2011-01-01

    Allelic expression (AE) imbalance between the two alleles of a gene can be used to detect cis-acting regulatory SNPs (rSNPs) in individuals heterozygous for a transcribed SNP (tSNP). In this paper, we propose three tests for AE analysis focusing on phase-unknown data and any degree of linkage disequilibrium (LD) between the rSNP and tSNP: a test based on the minimum p-value of a one-sided F and two-sided t tests proposed previously for phase-unknown data, a test that combines these two p-valu...

  16. Expression of human PTPN22 alleles

    DEFF Research Database (Denmark)

    Nielsen, C; Barington, T; Husby, S;

    2007-01-01

    Considering the female predominance in most of the autoimmune disorders that associate with the PTPN22 Trp620 variant and the complexity by which this variant influences immunologic tolerance, the objective of this study was to ascertain if the allele-specific expression of the disease-associated...... variant Udgivelsesdato: 2007-Mar...

  17. Global imbalances and the financial crisis

    OpenAIRE

    Sibert, Anne

    2010-01-01

    Between 1997 and 2007 advanced economies ran large and growing current account deficits while developing economies ran large and growing current account surpluses. These imbalances were primarily due to low and falling saving-to-GDP ratios in the United States and large and rising saving-to-GDP ratios in China and the Middle East. Low and falling saving-to-GDP ratios in the United States were primarily, but not entirely, due to the distortions that caused high saving-to-GDP ratios in the ...

  18. A South African perspective on global imbalances

    OpenAIRE

    Marcus, G.

    2011-01-01

    Financial inflows into South African financial markets have resumed in 2009 and gained momentum in 2010, largely as a result of low interest rates and an oversupply of liquidity in advanced economies. As an emerging-market country with a current-account defi cit, South Africa is to some extent reliant on these inflows to fund its own external imbalance. However, fi nancial infl ows have exerted significant upward pressure on the exchange rate of the rand, with negative effects on the exportin...

  19. Early proximal junctional failure in patients with preoperative sagittal imbalance.

    Science.gov (United States)

    Smith, Micah W; Annis, Prokopis; Lawrence, Brandon D; Daubs, Michael D; Brodke, Darrel S

    2013-10-01

    Study Type Retrospective review. Introduction Sagittal imbalance has been associated with lower health-related quality of life outcomes, and restoration of imbalance is associated with improved outcomes.123 The long constructs used in adult spinal deformity have potential consequences such as proximal junctional kyphosis (PJK). Clinically, the development of PJK may not be as important as failure of the construct or vertebrae at the proximal end. As PJK does not lead to worse clinical outcomes,45 we define the term early proximal junctional failure (EPJF) as fracture, implant failure, or myelopathy due to stenosis at the upper instrumental vertebra (UIV) or UIV + 1 within 6 months of surgery. Objective The purpose of this study is to report the incidence of EPJF in patients who are sagittally imbalanced preoperatively and to identify risk factors postoperatively that correlate with EPJF using commonly reported sagittal balance parameters. Methods We reviewed 197 patients with preoperative sagittal imbalance by at least one of the following: sagittal vertical axis more than 5 cm, global sagittal alignment more than 45 degrees, pelvic incidence-lumbar lordosis more than 10 degrees, or spine-sacral angle less than 120 degrees. Radiographic measurements also included proximal junctional angle, thoracic kyphosis, lumbar lordosis, pelvic parameters, and sagittal balance parameters/formulas, as well as UIV angle, UIV spinosacral angle, and UIV plumb line to assess as potential risk factors. EPJF incidence was calculated postoperatively for each of the accepted sagittal balance parameters/formulas. Results EPJF was observed in 49 of 197 patients (25%) with preoperative sagittal imbalance and was more common in fusions with UIV in the lower thoracic spine (TS) (35%) than in those with UIV in the upper TS (10%) or lumbar (25%) (p = 0.007). Of the 49 EPJF patients, 16 patients (33%) required revision surgery within the first year, for an overall early revision

  20. Th17/Treg细胞失衡与再生障碍性贫血研究进展%Recent Progress of Study on Imbalance of Th17/Treg Cells in Aplastic Anemia——Review

    Institute of Scientific and Technical Information of China (English)

    杨友卫; 郑智茵; 姚红章

    2012-01-01

    再生障碍性贫血( aplastic anemia,AA)是一种以效应T细胞功能亢进导致造血组织损伤为特征的自身免疫性疾病.近年来研究发现,AA与Th17细胞数量增加及Treg细胞数量减少密切相关,且Th17和Treg细胞功能上相互拮抗.动物实验表明,IL-17抗体靶向治疗及Treg细胞回输治疗均可改善免疫介导的AA小鼠骨髓衰竭状态.本文就Th17/Treg细胞与AA关系最新研究进展作一综述,旨在进一步探讨AA发病机制,为临床治疗提供新思路.本综述讨论的主要问题有:Th1 7/Treg细胞一般生物学特性,Th17/Treg细胞平衡的调节及相关细胞因子,Th17/Treg细胞与再生障碍性贫血关系等.%Aplastic anemia (AA) is an autoimmune disease characterized by destruction of hematopoietic tissue resulting in hyperfunction of effector T-lymphocytes. Recent studies indicate that Thl7 and Treg cells are functionally antagonistic each other, and the increase of Thl7 cells and decrease of Treg cells are closely related with AA. In vivo experiments showed that both anti-IL-17 treatment and Treg cell infusion can protect against immune-mediated bone marrow failure in mouse with AA. This review summarizes the recent progress of study on imbalance of Thl7/ Treg cells in AA, so as to explore the pathogenesis of AA and provide approach to clinical treatment. The main problems that are discussed in this review include biological characteristics of Thl7/Treg cells, the regulation of Thl7/Treg cell balance and related cytokines, the relationship between Thl7/Treg cells and AA.

  1. Effects of imbalance and geometric error on precision grinding machines

    Energy Technology Data Exchange (ETDEWEB)

    Bibler, J.E.

    1997-06-01

    To study balancing in grinding, a simple mechanical system was examined. It was essential to study such a well-defined system, as opposed to a large, complex system such as a machining center. The use of a compact, well-defined system enabled easy quantification of the imbalance force input, its phase angle to any geometric decentering, and good understanding of the machine mode shapes. It is important to understand a simple system such as the one I examined given that imbalance is so intimately coupled to machine dynamics. It is possible to extend the results presented here to industrial machines, although that is not part of this work. In addition to the empirical testing, a simple mechanical system to look at how mode shapes, balance, and geometric error interplay to yield spindle error motion was modelled. The results of this model will be presented along with the results from a more global grinding model. The global model, presented at ASPE in November 1996, allows one to examine the effects of changing global machine parameters like stiffness and damping. This geometrically abstract, one-dimensional model will be presented to demonstrate the usefulness of an abstract approach for first-order understanding but it will not be the main focus of this thesis. 19 refs., 36 figs., 10 tables.

  2. Hypobaric Hypoxia Imbalances Mitochondrial Dynamics in Rat Brain Hippocampus

    Directory of Open Access Journals (Sweden)

    Khushbu Jain

    2015-01-01

    Full Text Available Brain is predominantly susceptible to oxidative stress and mitochondrial dysfunction during hypobaric hypoxia, and therefore undergoes neurodegeneration due to energy crisis. Evidences illustrate a high degree of association for mitochondrial fusion/fission imbalance and mitochondrial dysfunction. Mitochondrial fusion/fission is a recently reported dynamic mechanism which frequently occurs among cellular mitochondrial network. Hence, the study investigated the temporal alteration and involvement of abnormal mitochondrial dynamics (fusion/fission along with disturbed mitochondrial functionality during chronic exposure to hypobaric hypoxia (HH. The Sprague-Dawley rats were exposed to simulated high altitude equivalent to 25000 ft for 3, 7, 14, 21, and 28 days. Mitochondrial morphology, distribution within neurons, enzyme activity of respiratory complexes, Δψm, ADP: ATP, and expression of fission/fusion key proteins were determined. Results demonstrated HH induced alteration in mitochondrial morphology by damaged, small mitochondria observed in neurons with disturbance of mitochondrial functionality and reduced mitochondrial density in neuronal processes manifested by excessive mitochondrial fragmentation (fission and decreased mitochondrial fusion as compared to unexposed rat brain hippocampus. The study suggested that imbalance in mitochondrial dynamics is one of the noteworthy mechanisms occurring in hippocampal neurons during HH insult.

  3. A genome-wide screen in human embryonic stem cells reveals novel sites of allele-specific histone modification associated with known disease loci

    LENUS (Irish Health Repository)

    Prendergast, James G D

    2012-05-19

    AbstractBackgroundChromatin structure at a given site can differ between chromosome copies in a cell, and such imbalances in chromatin structure have been shown to be important in understanding the molecular mechanisms controlling several disease loci. Human genetic variation, DNA methylation, and disease have been intensely studied, uncovering many sites of allele-specific DNA methylation (ASM). However, little is known about the genome-wide occurrence of sites of allele-specific histone modification (ASHM) and their relationship to human disease. The aim of this study was to investigate the extent and characteristics of sites of ASHM in human embryonic stem cells (hESCs).ResultsUsing a statistically rigorous protocol, we investigated the genomic distribution of ASHM in hESCs, and their relationship to sites of allele-specific expression (ASE) and DNA methylation. We found that, although they were rare, sites of ASHM were substantially enriched at loci displaying ASE. Many were also found at known imprinted regions, hence sites of ASHM are likely to be better markers of imprinted regions than sites of ASM. We also found that sites of ASHM and ASE in hESCs colocalize at risk loci for developmental syndromes mediated by deletions, providing insights into the etiology of these disorders.ConclusionThese results demonstrate the potential importance of ASHM patterns in the interpretation of disease loci, and the protocol described provides a basis for similar studies of ASHM in other cell types to further our understanding of human disease susceptibility.

  4. Operating a redox flow battery with a negative electrolyte imbalance

    Energy Technology Data Exchange (ETDEWEB)

    Pham, Quoc; Chang, On; Durairaj, Sumitha

    2015-03-31

    Loss of flow battery electrode catalyst layers during self-discharge or charge reversal may be prevented by establishing and maintaining a negative electrolyte imbalance during at least parts of a flow battery's operation. Negative imbalance may be established and/or maintained actively, passively or both. Actively establishing a negative imbalance may involve detecting an imbalance that is less negative than a desired threshold, and processing one or both electrolytes until the imbalance reaches a desired negative level. Negative imbalance may be effectively established and maintained passively within a cell by constructing a cell with a negative electrode chamber that is larger than the cell's positive electrode chamber, thereby providing a larger quantity of negative electrolyte for reaction with positive electrolyte.

  5. ApolipoproteinE ε4 allelic variant, cognitive decline and psychosis in Alzheimer disease: a review of the literature and suggestions for upcoming studies

    Directory of Open Access Journals (Sweden)

    Ilaria Spoletini

    2006-06-01

    Full Text Available Apolipoprotein E (ApoE ε4 allele represents a well known vascular risk factor for developing Alzheimer disease (AD and differences in ApoE genotypes may explain a part of the variability in AD phenotypes. In fact, ApoE ε4 allele possession seems to be associated with a more precocious age of onset, greater episodic memory impairment, and psychotic symptoms. The first question we discuss regards the role of ApoE ε4 on cognitive progression of AD. In fact, while a general agreement exists about the role played by ApoE ε4 on the precocious onset of AD, cognitive decline has been differently associated with ApoE ε4 allele possession in AD patients in a continuum of faster decline, no effect, and slower decline. An attemptable interpretation is that the biological processes leading to the onset of AD are different from those involved in determining its clinical course. The second question regards the possible relationship between the presence of the degenerative pathological hallmarks of the disease in specific cerebral areas and different cognitive or behavioural symptoms. In fact, there is evidence that degenerative pathology in hippocampal formation and frontal cortex reflects the progression of cognitive deficits in brain aging and AD and that hypometabolism in right frontal lobe and greater frontal neuropsychological deficits occur in AD patients with psychosis in comparison to those without. The third question regards, specifically, the relationship between ApoE ε4 variant and behavioural symptoms. In fact, there is evidence supporting the link between being carriers of ApoE ε4 allele and severity of delusions, mostly at the early stage of the illness. In an interpretative challenge, we suggest that the link between being carriers of ApoE ε4 allele and suffering from delusions in AD may be explained by frontal lobe dysfunctions. Finally, we hypothesize that the most precocious onset of AD illness, described in carriers of ApoE ε4

  6. Online Feature Selection of Class Imbalance via PA Algorithm

    Institute of Scientific and Technical Information of China (English)

    Chao Han; Yun-Kun Tan; Jin-Hui Zhu; Yong Guo; Jian Chen; Qing-Yao Wu

    2016-01-01

    Imbalance classification techniques have been frequently applied in many machine learning application domains where the number of the majority (or positive) class of a dataset is much larger than that of the minority (or negative) class. Meanwhile, feature selection (FS) is one of the key techniques for the high-dimensional classification task in a manner which greatly improves the classification performance and the computational efficiency. However, most studies of feature selection and imbalance classification are restricted to off-line batch learning, which is not well adapted to some practical scenarios. In this paper, we aim to solve high-dimensional imbalanced classification problem accurately and efficiently with only a small number of active features in an online fashion, and we propose two novel online learning algorithms for this purpose. In our approach, a classifier which involves only a small and fixed number of features is constructed to classify a sequence of imbalanced data received in an online manner. We formulate the construction of such online learner into an optimization problem and use an iterative approach to solve the problem based on the passive-aggressive (PA) algorithm as well as a truncated gradient (TG) method. We evaluate the performance of the proposed algorithms based on several real-world datasets, and our experimental results have demonstrated the effectiveness of the proposed algorithms in comparison with the baselines.

  7. Study on the causes and Countermeasures of the new changes in the problem of Sino US trade imbalance%中美贸易失衡问题的新变化、根源与对策研究

    Institute of Scientific and Technical Information of China (English)

    任奕繁; 陈明宇

    2015-01-01

    As the world's two largest economy,the imbalance in trade between the two countries,the United States in a period of time,the specific performance of China huge trade surplus with the America. In 2008 after the financial crisis,a series of new changes in Sino US trade. A direct cause of Sino US trade imbalance is the policy intervention and statistical difference,the underlying reason is that the specific pattern of division of global value chain,focus on the performance of double surplus of international balance of payments accounts"China". In order to reverse the trade imbalance,China need to adjust foreign policy,reduce the dependence on foreign capital,encourage innovation.%作为世界上最大的两个经济体,中、美两国之间的贸易一段时期内处于失衡状态,具体表现为中国对美国的巨额贸易顺差。在2008年金融危机后,中美贸易发生了一系列新的变化。导致中美贸易失衡的直接原因是政策干预及统计差异,深层原因是全球产品价值链的特定分工格局,集中表现为中国国际收支账户的“双顺差”。为扭转贸易失衡,中国需要调整外资政策,减少外资依赖,鼓励创新。

  8. An imperative to monitor Earth's energy imbalance

    Science.gov (United States)

    von Schuckmann, K.; Palmer, M. D.; Trenberth, K. E.; Cazenave, A.; Chambers, D.; Champollion, N.; Hansen, J.; Josey, S. A.; Loeb, N.; Mathieu, P.-P.; Meyssignac, B.; Wild, M.

    2016-02-01

    The current Earth's energy imbalance (EEI) is mostly caused by human activity, and is driving global warming. The absolute value of EEI represents the most fundamental metric defining the status of global climate change, and will be more useful than using global surface temperature. EEI can best be estimated from changes in ocean heat content, complemented by radiation measurements from space. Sustained observations from the Argo array of autonomous profiling floats and further development of the ocean observing system to sample the deep ocean, marginal seas and sea ice regions are crucial to refining future estimates of EEI. Combining multiple measurements in an optimal way holds considerable promise for estimating EEI and thus assessing the status of global climate change, improving climate syntheses and models, and testing the effectiveness of mitigation actions. Progress can be achieved with a concerted international effort.

  9. Mechanism for Corrective Action on Budget Imbalances

    Directory of Open Access Journals (Sweden)

    Ion Lucian CATRINA

    2014-02-01

    Full Text Available The European Fiscal Compact sets the obligation for the signatory states to establish an automatic mechanism for taking corrective action on budget imbalances. Nevertheless, the European Treaty says nothing about the tools that should be used in order to reach the desired equilibrium of budgets, but only that it should aim at correcting deviations from the medium-term objective or the adjustment path, including their cumulated impact on government debt dynamics. This paper is aiming at showing that each member state has to build the correction mechanism according to the impact of the chosen tools on economic growth and on general government revenues. We will also emphasize that the correction mechanism should be built not only exacerbating the corrective action through spending/ tax based adjustments, but on a high quality package of economic policies as well.

  10. Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses.

    Science.gov (United States)

    Mairal, A; Pinglier, E; Gilbert, E; Peter, M; Validire, P; Desjardins, L; Doz, F; Aurias, A; Couturier, J

    2000-08-01

    We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), -16/-16q (11/24), and +2p (9/24). Recurrent high-level amplifications were observed in 2p23-25 and 1q21. Amplification of 2p23-25, present in 4 cases among which 3 showed double-minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk. PMID:10862045

  11. Sequencing Analysis of Mutant Allele $cdc$28-$srm$ of Protein Kinase CDC28 and Molecular Dynamics Study of Glycine-Rich Loop in Wild-Type and Mutant Allele G16S of CDK2 as Model

    CERN Document Server

    Koltovaya, N A; Kholmurodov, Kh T; Kretov, D A

    2005-01-01

    The central role that cyclin-dependent kinases play in the timing of cell division and the high incidence of genetic alteration of CDKs or deregulation of CDK inhibitors in a number of cancers make CDC28 of the yeast \\textit{Saccharomyces cerevisiae }very attractive model for studies of mechanisms of CDK regulation. Earlier it was found that certain gene mutations including \\textit{cdc28-srm} affect cell cycle progression, maintenance of different genetic structures and increase cell sensitivity to ionizing radiation. A~\\textit{cdc28-srm} mutation is not temperature-sensitive mutation and differs from the known \\textit{cdc28-ts }mutations because it has the evident phenotypic manifestations at 30 $^{\\circ}$C. Sequencing analysis of \\textit{cdc28-srm} revealed a single nucleotide substitution G20S. This is a third glycine in a conserved sequence GxGxxG in the G-rich loop positioned opposite the activation T-loop. Despite its demonstrated importance, the role of the G-loop has remained unclear. The crystal stru...

  12. Dideoxy single allele-specific PCR - DSASP new method to discrimination allelic

    Directory of Open Access Journals (Sweden)

    Eleonidas Moura Lima

    2015-06-01

    Full Text Available Gastric cancer (GC is a multifactorial disease with a high mortality rate in Brazil and worldwide. This work aimed to evaluate single nucleotide polymorphisms (SNP rs1695, in the Glutathione S-Transferase Pi (GSTP1 gene in GC samples by comparative analysis Specific PCR - ASP and Dideoxy Single Allele-Specific PCR - DSASP methods. The DSASP is the proposed new method for allelic discrimination. This work analyzed 60 GC samples, 26 diffuse and 34 intestinal types. The SNP rs1695 of the GSTP1 gene was significantly associated with GC analyzed by DSASP method (χ2 = 9.7, P 0.05. These results suggest that the SNP rs1695 of the GSTP1 gene was a risk factor associated with gastric carcinogens is and the DSASP method was a new successfully low-cost strategy to study allelic discrimination.

  13. Imbalance of Water as an Example of Fundamental Imbalance of Nature.

    Science.gov (United States)

    Nechayev, A.

    2012-12-01

    Water is one of the main attributes of the world around us. Turning into ice or water vapor it controls a wide range of natural phenomena. It is one of the most moving substances of Earth and in it as in a mirror all imbalance of the Nature reflects. The laws that govern the water are above all the laws of classical physics, laws of motion and conservation. They determine an equilibrium state and out of it when the balance of forces, flows and energy is disturbed. Volcanic eruption, earthquake, tsunami, hurricane or tornado formation are the extreme form of imbalance of Nature. Unfortunately they are involved in it as a genetic feature. Mass and energy flows pervade the natural world. The structure of the space makes them come into conflict. Internal stress increase, there is an imbalance resulting in the fast, catastrophic events. Whether it is possible to understand the reasons of similar imbalance and to find its critical conditions? The water in their states shows the most striking examples of imbalance of Nature. If the equilibrium of forces and flows is disturbed the nature of movement can fundamentally change. The dependence of the total flux I flowing through the structure of the pressure drop Δp causing this flow can serve as an important informative characteristic for the imbalance phenomena connected with water. This «flow - forcing» characteristic I(Δp) qualitatively changes its form with changes of so-called bifurcation parameter. From monotonous it can become S- or N-shaped. The approach to the analysis of Nature imbalance phenomenon can be illustrated by geyser eruption mechanism which is theoretically described in (Nechayev, 2012). One-dimensional motion of water flow in the geyser conduit obeys the Navier-Stokes equation. The influx of masses of water vapor due to water boiling in an underground chamber creates increasing overpressure. Bifurcation parameter is the volume of this chamber. There is a critical value of this volume (as compared

  14. Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression.

    Science.gov (United States)

    McRonald, Fiona E; Liloglou, Triantafillos; Xinarianos, George; Hill, Laura; Rowbottom, Lynn; Langan, Joanne E; Ellis, Anthony; Shaw, Joan M; Field, John K; Risk, Janet M

    2006-04-15

    Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the 'second hit' of a gene previously implicated in this disease by allelic imbalance studies.

  15. Estimation of allele frequencies for VNTR loci.

    OpenAIRE

    Devlin, B; Risch, N; Roeder, K

    1991-01-01

    VNTR loci provide valuable information for a number of fields of study involving human genetics, ranging from forensics (DNA fingerprinting and paternity testing) to linkage analysis and population genetics. Alleles of a VNTR locus are simply fragments obtained from a particular portion of the DNA molecule and are defined in terms of their length. The essential element of a VNTR fragment is the repeat, which is a short sequence of basepairs. The core of the fragment is composed of a variable ...

  16. Effort reward imbalance, and salivary cortisol in the morning

    DEFF Research Database (Denmark)

    Eller, Nanna Hurwitz; Nielsen, Søren Feodor; Blønd, Morten;

    2012-01-01

    Effort reward imbalance (ERI) is suggested to increase risk for stress and is hypothesized to increase cortisol levels, especially the awakening cortisol response, ACR.......Effort reward imbalance (ERI) is suggested to increase risk for stress and is hypothesized to increase cortisol levels, especially the awakening cortisol response, ACR....

  17. Multilocus Inherited Neoplasia Alleles Syndrome

    DEFF Research Database (Denmark)

    Whitworth, James; Skytte, Anne-Bine; Sunde, Lone;

    2016-01-01

    as multilocus inherited neoplasia alleles syndrome [MINAS]) in patients with unusual inherited cancer syndrome phenotypes. To facilitate the clinical management of novel cases of MINAS, we have established a database to collect information on what is likely to be an increasingly recognized cohort...

  18. DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy status

    DEFF Research Database (Denmark)

    Weiner Lachmi, Karin; Lin, Ling; Kornum, Birgitte Rahbek;

    2012-01-01

    The association of narcolepsy-cataplexy, a sleep disorder caused by the loss of hypocretin/orexin neurons in the hypothalamus, with DQA1*01:02-DQB1*06:02 is one of the tightest known single-allele human leukocyte antigen (HLA) associations. In this study, we explored genome-wide expression in per...

  19. Propensity to obesity impacts the neuronal response to energy imbalance

    Directory of Open Access Journals (Sweden)

    Marc-Andre eCornier

    2015-02-01

    Full Text Available The mechanisms responsible for the propensity to gain weight or remain normal weight are poorly understood. The objective of this study was to study the neuronal response to visual food cues during short-term energy imbalance in healthy adults recruited as obesity-resistant (OR or obesity-prone (OP based on self-identification, BMI, and personal/family weight history. 25 OR and 28 OP subjects were studied in underfed (UF and overfed (OF as compared to eucaloric (EU conditions in a randomized crossover design. Each study phase included a 3 day run-in diet, 1 day of controlled feeding (basal energy needs for EU, 40% above/below basal energy needs for OF/UF, and a test day. On the test day fMRI was performed in the acute fed stated (30 minutes after a test meal while subjects viewed images of foods of high hedonic value and neutral non-food objects. Measures of appetite and hormones were also performed before and every 30 minutes after the test meal. UF was associated with significantly increased activation of insula, somatosensory cortex, inferior and medial prefrontal cortex, parahippocampus, precuneus, cingulate and visual cortex in OR. However, UF had no impact in OP. As a result, UF was associated with significantly greater activation, specifically in the insula, inferior prefrontal cortex, and somatosensory cortex in OR as compared to OP. While OF was overall associated with reduced activation of inferior visual cortex, no group interaction was observed with OF. In summary, these findings suggest that individuals resistant to weight gain and obesity are more sensitive to short-term energy imbalance, particularly with UF, than those prone to weight gain. The inability to sense or adapt to changes in energy balance may represent an important mechanism contributing to excess energy intake and risk for obesity.

  20. Propensity to obesity impacts the neuronal response to energy imbalance.

    Science.gov (United States)

    Cornier, Marc-Andre; McFadden, Kristina L; Thomas, Elizabeth A; Bechtell, Jamie L; Bessesen, Daniel H; Tregellas, Jason R

    2015-01-01

    The mechanisms responsible for the propensity to gain weight or remain normal weight are poorly understood. The objective of this study was to study the neuronal response to visual food cues during short-term energy imbalance in healthy adults recruited as obesity-resistant (OR) or obesity-prone (OP) based on self-identification, body mass index, and personal/family weight history. Twenty-five OR and 28 OP subjects were studied in underfed (UF) and overfed (OF) as compared to eucaloric (EU) conditions in a randomized crossover design. Each study phase included a 3-day run-in diet, 1 day of controlled feeding (basal energy needs for EU, 40% above/below basal energy needs for OF/UF), and a test day. On the test day, fMRI was performed in the acute fed stated (30 min after a test meal) while subjects viewed images of foods of high hedonic value and neutral non-food objects. Measures of appetite and hormones were also performed before and every 30 min after the test meal. UF was associated with significantly increased activation of insula, somatosensory cortex, inferior and medial prefrontal cortex (PFC), parahippocampus, precuneus, cingulate, and visual cortex in OR. However, UF had no impact in OP. As a result, UF was associated with significantly greater activation, specifically in the insula, inferior PFC, and somatosensory cortex in OR as compared to OP. While OF was overall associated with reduced activation of inferior visual cortex, no group interaction was observed with OF. In summary, these findings suggest that individuals resistant to weight gain and obesity are more sensitive to short-term energy imbalance, particularly with UF, than those prone to weight gain. The inability to sense or adapt to changes in energy balance may represent an important mechanism contributing to excess energy intake and risk for obesity. PMID:25767441

  1. Assignment of SNP allelic configuration in polyploids using competitive allele-specific PCR: application to citrus triploid progeny

    Science.gov (United States)

    Cuenca, José; Aleza, Pablo; Navarro, Luis; Ollitrault, Patrick

    2013-01-01

    Background Polyploidy is a major component of eukaryote evolution. Estimation of allele copy numbers for molecular markers has long been considered a challenge for polyploid species, while this process is essential for most genetic research. With the increasing availability and whole-genome coverage of single nucleotide polymorphism (SNP) markers, it is essential to implement a versatile SNP genotyping method to assign allelic configuration efficiently in polyploids. Scope This work evaluates the usefulness of the KASPar method, based on competitive allele-specific PCR, for the assignment of SNP allelic configuration. Citrus was chosen as a model because of its economic importance, the ongoing worldwide polyploidy manipulation projects for cultivar and rootstock breeding, and the increasing availability of SNP markers. Conclusions Fifteen SNP markers were successfully designed that produced clear allele signals that were in agreement with previous genotyping results at the diploid level. The analysis of DNA mixes between two haploid lines (Clementine and pummelo) at 13 different ratios revealed a very high correlation (average = 0·9796; s.d. = 0·0094) between the allele ratio and two parameters [θ angle = tan−1 (y/x) and y′ = y/(x + y)] derived from the two normalized allele signals (x and y) provided by KASPar. Separated cluster analysis and analysis of variance (ANOVA) from mixed DNA simulating triploid and tetraploid hybrids provided 99·71 % correct allelic configuration. Moreover, triploid populations arising from 2n gametes and interploid crosses were easily genotyped and provided useful genetic information. This work demonstrates that the KASPar SNP genotyping technique is an efficient way to assign heterozygous allelic configurations within polyploid populations. This method is accurate, simple and cost-effective. Moreover, it may be useful for quantitative studies, such as relative allele-specific expression analysis and bulk segregant analysis

  2. Common alleles contribute to schizophrenia in CNV carriers

    Science.gov (United States)

    Tansey, K E; Rees, E; Linden, D E; Ripke, S; Chambert, K D; Moran, J L; McCarroll, S A; Holmans, P; Kirov, G; Walters, J; Owen, M J; O'Donovan, M C

    2016-01-01

    The genetic architecture of schizophrenia is complex, involving risk alleles ranging from common alleles of weak effect to rare alleles of large effect, the best exemplar of the latter being large copy number variants (CNVs). It is currently unknown whether pathophysiology in those with defined rare mutations overlaps with that in other individuals with the disorder who do not share the same rare mutation. Under an extreme heterogeneity model, carriers of specific high-penetrance mutations form distinct subgroups. In contrast, under a polygenic threshold model, high-penetrance rare allele carriers possess many risk factors, of which the rare allele is the only one, albeit an important, factor. Under the latter model, cases with rare mutations can be expected to share some common risk alleles, and therefore pathophysiological mechanisms, with cases without the same mutation. Here we show that, compared with controls, individuals with schizophrenia who have known pathogenic CNVs carry an excess burden of common risk alleles (P=2.25 × 10−17) defined from a genome-wide association study largely based on individuals without known CNVs. Our finding is not consistent with an extreme heterogeneity model for CNV carriers, but does offer support for the polygenic threshold model of schizophrenia. That this is so provides support for the notion that studies aiming to model the effects of rare variation may uncover pathophysiological mechanisms of relevance to those with the disorder more widely. PMID:26390827

  3. Optimal weight based on energy imbalance and utility maximization

    Science.gov (United States)

    Sun, Ruoyan

    2016-01-01

    This paper investigates the optimal weight for both male and female using energy imbalance and utility maximization. Based on the difference of energy intake and expenditure, we develop a state equation that reveals the weight gain from this energy gap. We ​construct an objective function considering food consumption, eating habits and survival rate to measure utility. Through applying mathematical tools from optimal control methods and qualitative theory of differential equations, we obtain some results. For both male and female, the optimal weight is larger than the physiologically optimal weight calculated by the Body Mass Index (BMI). We also study the corresponding trajectories to steady state weight respectively. Depending on the value of a few parameters, the steady state can either be a saddle point with a monotonic trajectory or a focus with dampened oscillations.

  4. Golden Jubilee Photos: A Universal Imbalance

    CERN Multimedia

    2004-01-01

    http://www.cern.ch/cern50/ View along the NA48 beamline with the detector in the distance. No one is sure why the Universe wound up the way it has: all matter and no antimatter. According to prevailing theories, the early universe had equal amounts of matter and antimatter. However, whenever such opposites meet, they annihilate and become a burst of energy. This would seem to leave the Universe with neither matter nor antimatter - and thus no stars, planets, or physicists. If nature shows a bias for matter over antimatter, this could explain why the Universe is all matter. To see what might be missing from the theories, physicists search for the rare cases in which matter and antimatter behave differently. One such imbalance, called direct CP violation, showed up in the NA 31 experiment at CERN. The results from this experiment, first presented in 1993, showed that when K mesons and their antimatter cousins decay, they show a slight preference for matter over antimatter. Later experiments with neutral K mes...

  5. Evaluation Study on Imbalance Issues in Spatial Development and Mitigation Measures of Each Counties of Yulin City%榆林市各县域发展的空间失衡性评价及解决措施

    Institute of Scientific and Technical Information of China (English)

    孙皓; 张阳生; 马晓

    2015-01-01

    Combined Gini coefficient,relative development rate,location quotient and others with GIS,the imbalance development in space and its evolution trend of Yulin each area from 2001 to 2012,were portrayed from the macro-economic development,urban space structure and transport infrastructure layout. The results showed as follows. Firstly,there existed a significantly imbalance in space which increased year by year in macroeconomic development(especially industrial output)and the urban and rural income levels of the north and south county in Yulin;Secondly,industry specialization characteristics were manifested at the secondary industry in north and the first and third industry in south;Thirdly,the economic development status in south is lower than that in north,as well as the urban spatial structure. The imbalance is the basic reason of the latent social safety problems ,ecological problems of coal mined-out area,the collapse of private lending and the burst of real estate bubble. Based on the analysis above,some measures and notices for further mitigating the city’s imbalance development pattern were given.%运用基尼系数、相对发展率和区位商等方法结合GIS,从经济空间发展、城镇空间结构及基础设施布局三大层面刻画了2001—2012年间榆林市各县区发展的空间失衡性及演变态势。结果表明:榆林市南北县区在宏观经济发展(尤其是工业产值)及城乡收入层面上空间失衡性显著,且逐年加剧。其产业专门化特色在北部表现为第二产业,在南部表现为第一产业、第三产业。榆林市在经济发展地位上表现为“南低北高”,在城镇空间结构上表现为“南少北多”。这一空间失衡是南北贫富极化及其差距下潜伏的社会安全隐患、煤炭采空区生态问题、民间借贷崩盘与地产泡沫破裂等产生的根本原因,并基于此提出了缓解失衡性的战略措施。

  6. A high-throughput method for genotyping S-RNase alleles in apple

    DEFF Research Database (Denmark)

    Larsen, Bjarne; Ørgaard, Marian; Toldam-Andersen, Torben Bo;

    2016-01-01

    We present a new efficient screening tool for detection of S-alleles in apple. The protocol using general and multiplexed primers for PCR reaction and fragment detection on an automatized capillary DNA sequencer exposed a higher number of alleles than any previous studies. Analysis of alleles...

  7. Effort reward imbalance is associated with vagal withdrawal in Danish public sector employees

    DEFF Research Database (Denmark)

    Eller, Nanna Hurwitz; Blønd, Morten; Nielsen, Martin;

    2011-01-01

    The current study analyzed the relationship between psychosocial work environment assessed by the Effort Reward Imbalance Model (ERI-model) and heart rate variability (HRV) measured at baseline and again, two years later, as this relationship is scarcely covered by the literature....

  8. Burnout among psychosocial oncologists : an application and extension of the effort-reward imbalance model

    NARCIS (Netherlands)

    Rasmussen, Victoria; Turnell, Adrienne; Butow, Phyllis; Juraskova, Ilona; Kirsten, Laura; Wiener, Lori; Patenaude, Andrea; Hoekstra-Weebers, Josette; Grassi, Luigi

    2016-01-01

    ObjectivesBurnout is a significant problem among healthcare professionals working within the oncology setting. This study aimed to investigate predictors of emotional exhaustion (EE) and depersonalisation (DP) in psychosocial oncologists, through the application of the effort-reward imbalance (ERI)

  9. Proteome complexity and the forces that drive proteome imbalance.

    Science.gov (United States)

    Harper, J Wade; Bennett, Eric J

    2016-01-01

    The cellular proteome is a complex microcosm of structural and regulatory networks that requires continuous surveillance and modification to meet the dynamic needs of the cell. It is therefore crucial that the protein flux of the cell remains in balance to ensure proper cell function. Genetic alterations that range from chromosome imbalance to oncogene activation can affect the speed, fidelity and capacity of protein biogenesis and degradation systems, which often results in proteome imbalance. An improved understanding of the causes and consequences of proteome imbalance is helping to reveal how these systems can be targeted to treat diseases such as cancer. PMID:27629639

  10. Duality in binocular rivalry: distinct sensitivity of percept sequence and percept duration to imbalance between monocular stimuli.

    Directory of Open Access Journals (Sweden)

    Chen Song

    Full Text Available BACKGROUND: Visual perception is usually stable and accurate. However, when the two eyes are simultaneously presented with conflicting stimuli, perception falls into a sequence of spontaneous alternations, switching between one stimulus and the other every few seconds. Known as binocular rivalry, this visual illusion decouples subjective experience from physical stimulation and provides a unique opportunity to study the neural correlates of consciousness. The temporal properties of this alternating perception have been intensively investigated for decades, yet the relationship between two fundamental properties - the sequence of percepts and the duration of each percept - remains largely unexplored. METHODOLOGY/PRINCIPAL FINDINGS: Here we examine the relationship between the percept sequence and the percept duration by quantifying their sensitivity to the strength imbalance between two monocular stimuli. We found that the percept sequence is far more susceptible to the stimulus imbalance than does the percept duration. The percept sequence always begins with the stronger stimulus, even when the stimulus imbalance is too weak to cause a significant bias in the percept duration. Therefore, introducing a small stimulus imbalance affects the percept sequence, whereas increasing the imbalance affects the percept duration, but not vice versa. To investigate why the percept sequence is so vulnerable to the stimulus imbalance, we further measured the interval between the stimulus onset and the first percept, during which subjects experienced the fusion of two monocular stimuli. We found that this interval is dramatically shortened with increased stimulus imbalance. CONCLUSIONS/SIGNIFICANCE: Our study shows that in binocular rivalry, the strength imblanace between monocular stimuli has a much greater impact on the percept sequence than on the percept duration, and increasing this imbalance can accelerate the process responsible for the percept sequence.

  11. ALLELIC POLYMORPHISM OF IFNγ GENE IN PATIENTS WITH PULMONARY TUBERCULOSIS

    OpenAIRE

    E. L. Nikulina; I. O. Naslednikova; Urazova, O. I.; O. V. Voronkova; V. V. Novitsky; E. V. Nekrasov; O. V. Filiniuk; E. G. Churina; K. O. Mikheyeva; R. R. Hasanova; V. A. Serebryakova; N. A. Sukhalentseva

    2014-01-01

    In present work, some immunogenetic aspects of pulmonary tuberculosis were studied, using modern techniques from molecular genetics and immunology. It is shown that carriage of Т allele and homozygous TT genotype in +874А/Т IFNγ gene polymorphism comprise a immunogenetic factor which correlated with a protective effect, regarding a susceptibility to pulmonary tuberculosis. Predisposition for tuberculosis infection is associated with A allele of this gene, as well as with АА and АТ genotypes o...

  12. The impact of effort-reward imbalance and learning motivation on teachers' sickness absence.

    Science.gov (United States)

    Derycke, Hanne; Vlerick, Peter; Van de Ven, Bart; Rots, Isabel; Clays, Els

    2013-02-01

    The aim of this study was to analyse the impact of the effort-reward imbalance and learning motivation on sickness absence duration and sickness absence frequency among beginning teachers in Flanders (Belgium). A total of 603 teachers, who recently graduated, participated in this study. Effort-reward imbalance and learning motivation were assessed by means of self-administered questionnaires. Prospective data of registered sickness absence during 12 months follow-up were collected. Multivariate logistic regression analyses were performed. An imbalance between high efforts and low rewards (extrinsic hypothesis) was associated with longer sickness absence duration and more frequent absences. A low level of learning motivation (intrinsic hypothesis) was not associated with longer sickness absence duration but was significantly positively associated with sickness absence frequency. No significant results were obtained for the interaction hypothesis between imbalance and learning motivation. Further research is needed to deepen our understanding of the impact of psychosocial work conditions and personal resources on both sickness absence duration and frequency. Specifically, attention could be given to optimizing or reducing efforts spent at work, increasing rewards and stimulating learning motivation to influence sickness absence. PMID:22337584

  13. A Study of the Imbalances between Supply and Demand in Unemployment Insurance Fund%失业保险基金供求失衡矛盾的探析

    Institute of Scientific and Technical Information of China (English)

    张瑞锋; 张映芹

    2012-01-01

    According to China Labor Statistical Yearbook 2010 , the 2000-2009 statistical data in China's unemployment insurance fund show that “the supply goes far less than the demand”, though there is a huge sum of cumulative balance increasing in the fund, which exceeds the growth of both the fund revenue and the fund expenditure. Because of a mismatch between the 152. 36 billion yuan balance of the unemployment insurance fund and the China's persistently high unemployment rate in the recent years, the conflicts between the supply and the demand is unfolding,which is caused by the structural contradictions from the imbalances between available supply and effective demand. The measures to resolve the imbalances include enlarging the coverage of the unemployment insurance sys- tem, establishing a flexible system to raise unemployment insurance tariff, adjusting the standard and the condition of unemployment insurance payment, and enhancing the function of the unemployment insurance fund to promote reemployment in a variety of channels. Accordingly, it is hoped that the unemployment insurance fund would work effectively.%据《中国劳动统计年鉴20lO》统计数据显示,2000-2009年我国失业保险基金“供给远远小于需求”,但失业保险基金的累计结余却巨额增加,其增长速度远远高于基金收入与支出的增长速度。1523.6亿元的巨额失业保险基金结余与近年来我国居高不下的“真实失业率”状况不相匹配,供求矛盾日益突显。其根本原因在于有效供给与有效需求失衡的结构性矛盾。通过扩大失业保险制度的覆盖面、建立失业保险费率弹性征缴模式、调整失业保险金待遇给付水平及给付条件、多渠道发挥失业保险再就业促进功能的措施来化解供求失衡矛盾,确保失业保险制度功能得到有效发挥。

  14. An Analysis of Public Service Structural Imbalances in Rural China

    Institute of Scientific and Technical Information of China (English)

    林万龙

    2008-01-01

    Rectifying the structural imbalance between the provision of and demand for rural public services can effectively boost the efficiency of public funds utilization and the level of public service provision. Based on the findings of a field survey, this article presents a summary of the structural imbalance between the provision of and demand for rural public services. This paper holds that the structural imbalance is primarily reflected in the dislocation between provision and demand, the unsuitable mode of provision, the monolithic provision mechanism, the excessive focus on construction at the expense of governance and the overemphasis of counties and townships at the cost of villages. Such structural imbalance is principally because of the limited financial strength of government at the grass-roots level due to treasury centralization and the over-dependence of public services on special funds allocated by government at or above provincial level.

  15. Fitness Effects of Replichore Imbalance in Salmonella enterica▿

    OpenAIRE

    Matthews, T. David; Maloy, Stanley

    2010-01-01

    A fitness cost due to imbalanced replichores has been proposed to provoke chromosome rearrangements in Salmonella enterica serovars. To determine the impact of replichore imbalance on fitness, the relative fitness of isogenic Salmonella strains containing transposon-held duplications of various sizes and at various chromosomal locations was determined. Although duplication of certain genes influenced fitness, a replichore imbalance of up to 16° did not affect fitness.

  16. MIMO OFDM receivers for systems with IQ imbalances

    OpenAIRE

    Tarighat, Alireza; Sayed, A.H.

    2005-01-01

    Orthogonal frequency division multiplexing (OFDM) is a widely recognized modulation scheme for high data rate communications. However, the implementation of OFDM-based systems suffers from in-phase and quadrature-phase (IQ) imbalances in the front-end analog processing. Such imbalances are caused by the analog processing of the received radio frequency (RF) signal, and they cannot be efficiently or entirely eliminated in the analog domain. The resulting IQ distortion limits the achievable ope...

  17. Semi-Blind Cancellation of IQ-Imbalances

    OpenAIRE

    Hesse, Matthias; Mailand, Marko; Jentschel, Hans-Joachim; Deneire, Luc; Lebrun, Jerome

    2008-01-01

    The technical realization of modern wireless receivers yields significant interfering IQ-imbalances, which have to be compensated digitally. To cancel these IQ-imbalances, we propose an algorithm using iterative blind source separation (IBSS) as well as information about the modulation scheme used (hence the term semi-blind). The novelty of our approach lies in the fact that we match the nonlinearity involved in the IBSS algorithm to the probability density function of the source signals. Mor...

  18. Short-term strategies for Dutch wind power producers to reduce imbalance costs

    International Nuclear Information System (INIS)

    The paper assesses bidding strategies for a wind power producer in the Netherlands. To this end, a three-stage stochastic optimization framework is used, maximizing wind power producer's profit using the day-ahead and cross-border intraday market, taking into account available interconnection capacity. Results show that the wind power producer can increase its profits by trading on the intraday market and – under certain imbalance prices – by intentionally creating imbalances. It has been considered uncertainties about prices, power forecast and interconnection capacity at the day-ahead and intraday timeframes. - Highlights: ► A cross-border bidding strategy model for wind power producers has been developed. ► The model was applied to a real case study of a Dutch offshore wind power producer. ► Under certain imbalance prices, it is not profitable to deliver all possible power. ► Intraday markets give the possibility to reduce imbalance costs. ► Integration of intraday markets will increase liquidity.

  19. ICI mitigation in concurrent multi-band receiver due to the phase noise and IQ imbalance

    Science.gov (United States)

    Lee, Hui-Kyu; Ryu, Heung-Gyoon

    2012-06-01

    For the next generation long-term evolution (LTE) advanced mobile communication system, 100 MHz bandwidth and 1 Gbit/s data speed are needed. However, there is not enough and wide vacant frequency band. Therefore, spectrum aggregation method has been studied to extend available frequency bands. Frequency synthesiser and power amplifier of transceiver should cover this wide bandwidth. The phase noise and In-phase and quadrature (IQ) imbalance would increase, which would be a serious problem in this transceiver. Also, signal-to-noise ratio becomes degraded because of nonlinearity and the quantisation noises of the Analog-to-digital conversion (ADC) in the receiver. Uplink of LTE-advanced uses Aggregated DFT-spread (NxDFT-S) orthogonal frequency division multiplexing (OFDM) signals. Since the effect of the phase noise and IQ imbalance are more serious in the multi-band Discrete Fourier transform (DFT)-spreading OFDM system, we like to analyse the effect of inter-carrier interference in frequency domain of receiver and the degradation of bit error rate (BER) performance. Also, by the channel response in frequency domain of the uplink system, we separate phase noise and IQ imbalance effect. Finally, we like to propose a compensation method that estimates the channel exactly and removes IQ imbalance and phase noise. Simulation result shows that the proposed method achieves the 2 dB performance gain of BER = 10-4.

  20. Joint Compensation of OFDM Frequency-Selective Transmitter and Receiver IQ Imbalance

    Directory of Open Access Journals (Sweden)

    Tandur Deepaknath

    2007-01-01

    Full Text Available Direct-conversion architectures are recently receiving a lot of interest in OFDM-based wireless transmission systems. However, due to component imperfections in the front-end analog processing, such systems are very sensitive to in-phase/quadrature-phase (IQ imbalances. The IQ imbalance results in intercarrier interference (ICI from the mirror carrier of the OFDM symbol. The resulting distortion can limit the achievable data rate and hence the performance of the system. In this paper, the joint effect of frequency-selective IQ imbalance at both the transmitter and receiver ends is studied. We consider OFDM transmission over a time-invariant frequency-selective channel. When the cyclic prefix is long enough to accommodate the channel impulse response combined with the transmitter and receiver filters, we propose a low-complexity two-tap equalizer with LMS-based adaptation to compensate for IQ imbalances along with channel distortions. When the cyclic prefix is not sufficiently long, then in addition to ICI there also exists interblock interference (IBI between the adjacent OFDM symbols. In this case, we propose a frequency domain per-tone equalizer (PTEQ obtained by transferring a time-domain equalizer (TEQ to the frequency domain. The PTEQ is initialized by a training-based RLS scheme. Both algorithms provide a very efficient post-FFT adaptive equalization and their performance is shown to be close to the ideal case.

  1. Joint Compensation of OFDM Frequency-Selective Transmitter and Receiver IQ Imbalance

    Directory of Open Access Journals (Sweden)

    Deepaknath Tandur

    2007-06-01

    Full Text Available Direct-conversion architectures are recently receiving a lot of interest in OFDM-based wireless transmission systems. However, due to component imperfections in the front-end analog processing, such systems are very sensitive to in-phase/quadrature-phase (IQ imbalances. The IQ imbalance results in intercarrier interference (ICI from the mirror carrier of the OFDM symbol. The resulting distortion can limit the achievable data rate and hence the performance of the system. In this paper, the joint effect of frequency-selective IQ imbalance at both the transmitter and receiver ends is studied. We consider OFDM transmission over a time-invariant frequency-selective channel. When the cyclic prefix is long enough to accommodate the channel impulse response combined with the transmitter and receiver filters, we propose a low-complexity two-tap equalizer with LMS-based adaptation to compensate for IQ imbalances along with channel distortions. When the cyclic prefix is not sufficiently long, then in addition to ICI there also exists interblock interference (IBI between the adjacent OFDM symbols. In this case, we propose a frequency domain per-tone equalizer (PTEQ obtained by transferring a time-domain equalizer (TEQ to the frequency domain. The PTEQ is initialized by a training-based RLS scheme. Both algorithms provide a very efficient post-FFT adaptive equalization and their performance is shown to be close to the ideal case.

  2. External Sector Rebalancing and Endogenous Trade Imbalance Models

    Directory of Open Access Journals (Sweden)

    John Whalley

    2012-12-01

    Full Text Available I discuss the need for trade models to incorporate endogenous trade imbalances both to more adequately capture the reality of a global economy with large imbalances and pressures from the financial crisis for countries to reduce imbalances. Conventional general equilibrium trade models implicitly incorporate monetary neutrality and either have zero trade balance as a property of equilibrium, or have a fixed and exogenous trade imbalance. Models which are discussed here have a variety of forms. In one, central banks fix exchange rates and operate a non accommodative monetary policy and accumulate reserves. Changes in both trade and monetary policies change reserve accumulative and with the external sector imbalances. This is a reflection of China’s current policy regime. In another intertemporal preferences allow for simultaneous inter commodity and intertemporal trade across countries, and with changed intertemporal trade changed external sector imbalances within the period. These formulations are each applied to potential tax initiatives to aid in rebalancing.

  3. Allelic Diversity of Major Histocompatibility Complex Class II DRB Gene in Indian Cattle and Buffalo

    Directory of Open Access Journals (Sweden)

    Sachinandan De

    2011-01-01

    Full Text Available The present study was conducted to study the diversity of MHC-DRB3 alleles in Indian cattle and buffalo breeds. Previously reported BoLA-DRB exon 2 alleles of Indian Zebu cattle, Bos taurus cattle, buffalo, sheep, and goats were analyzed for the identities and divergence among various allele sequences. Comparison of predicted amino acid residues of DRB3 exon 2 alleles with similar alleles from other ruminants revealed considerable congruence in amino acid substitution pattern. These alleles showed a high degree of nucleotide and amino acid polymorphism at positions forming peptide-binding regions. A higher rate of nonsynonymous substitution was detected at the peptide-binding regions, indicating that BoLA-DRB3 allelic sequence evolution was driven by positive selection.

  4. DRD4 dopamine receptor allelic diversity in various primate species

    Energy Technology Data Exchange (ETDEWEB)

    Adamson, M.; Higley, D. [NIAAA, Rockville, MD (United States); O`Brien, S. [NCI, Frederick, MD (United States)] [and others

    1994-09-01

    The DRD4 dopamine receptor is uniquely characterized by a 48 bp repeating segment within the coding region, located in exon III. Different DRD4 alleles are produced by the presence of additional 48 bp repeats, each of which adds 16 amino acids to the length of the 3rd intracytoplasmic loop of the receptor. The DRD4 receptor is therefore an intriguing candidate gene for behaviors which are influenced by dopamine function. In several human populations, DRD4 alleles with 2-8 and 10 repeats have previously been identified, and the 4 and 7 repeat alleles are the most abundant. We have determined DRD4 genotypes in the following nonhuman primate species: chimpanzee N=2, pygmy chimpanzee N=2, gorilla N=4, siamang N=2, Gelada baboon N=1, gibbon N=1, orangutan (Bornean and Sumatran) N=62, spider monkey N=4, owl monkey N=1, Colobus monkey N=1, Patas monkey N=1, ruffed lemur N=1, rhesus macaque N=8, and vervet monkey N=28. The degree of DRD4 polymorphism and which DRD4 alleles were present both showed considerable variation across primate species. In contrast to the human, rhesus macaque monkeys were monomorphic. The 4 and 7 repeat allels, highly abundant in the human, may not be present in certain other primates. For example, the four spider monkeys we studied showed the 7, 8 and 9 repeat length alleles and the only gibbon we analyzed was homozygous for the 9 repeat allele (thus far not observed in the human). Genotyping of other primate species and sequencing of the individual DRD4 repeat alleles in different species may help us determine the ancestral DRD4 repeat length and identify connections between DRD4 genotype and phenotype.

  5. Power of IRT in GWAS: successful QTL mapping of sum score phenotypes depends on interplay between risk allele frequency, variance explained by the risk allele, and test characteristics.

    Science.gov (United States)

    van den Berg, Stéphanie M; Service, Susan K

    2012-12-01

    As data from sequencing studies in humans accumulate, rare genetic variants influencing liability to disease and disorders are expected to be identified. Three simulation studies show that characteristics and properties of diagnostic instruments interact with risk allele frequency to affect the power to detect a quantitative trait locus (QTL) based on a test score derived from symptom counts or questionnaire items. Clinical tests, that is, tests that show a positively skewed phenotypic sum score distribution in the general population, are optimal to find rare risk alleles of large effect. Tests that show a negatively skewed sum score distribution are optimal to find rare protective alleles of large effect. For alleles of small effect, tests with normally distributed item parameters give best power for a wide range of allele frequencies. The item-response theory framework can help understand why an existing measurement instrument has more power to detect risk alleles with either low or high frequency, or both kinds.

  6. Apolipoprotein E Alleles, Dyslipidemia,and Coronary Heart Disease

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective To describe the association between apolipoprotein E alleles, dyslipidemia, and coronary heart disease (CHD). Methods Using polymerase chain reaction (PCR) the restriction fragment length polymorphism (RFLP), we studied the apolipoprotein E genotypes in 142 patients with coronary artery disease (CAD) and 131 age-matched healthy subjects, as well as the association between apolipoprotein, plasma lipids, and CHD. Results Compared with the E3 allele, the E4 allele was associated with elevated total cholesterol (TC) values (average increase about 0.32-0.58 mmol/L), low-density lipoprotein cholesterol (LDL-C) values, and apolipoprotein B (APOB). The E2 allele has opposite effects (average decrease about 0.34-0.61 mmol/L at TC). Both in cases and controls, the allelic frequency of E3/3 was highest, reaching 67.8% of whole volume, hemozygote of apo E3 was moderate, and homozygote E4/4 was low, E2/2 and E4/2 were rare. The frequencies of E3/4 and E4/4 were significantly higher in patients with CAD compared with controls (P<0.001).Conclusion Apolipoprotein E alleles are important genetic markers for dyslipidemia and CHD.The carrier of E4 gene was the risk factor of CHD.

  7. Allelic imbalance and fine mapping of the 17p13.3 subregion in sporadic breast carcinomas

    DEFF Research Database (Denmark)

    Hoff, C; Mollenhauer, J; Waldau, B;

    2001-01-01

    .3. This region is suspected to harbor another tumor suppressor gene. In order to get more information concerning the pattern of AIs in 17p13.3, we performed analysis of AI of 49 breast carcinomas at 6 polymorphic loci in 17p13.3. Eighty-six percent of the tumors present AI at least at one marker in 17p13...

  8. Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas.

    LENUS (Irish Health Repository)

    Gray, Sarah E

    2011-05-01

    The adenomatous polyposis coli (APC) gene is a tumor suppressor gene which is mutated in the hereditary disease, familial adenomatous polyposis (FAP). Somatic mutations of the APC gene have also been identified in the majority of sporadic colorectal carcinomas, and mutation of the APC gene appears to be an early step in the initiation of colon cancer. Loss of heterozygosity (LOH) of APC has been described in a variety of other cancer types, including renal cell carcinoma, gastric cancer, non-small cell lung cancer, endometrial cancer and oral squamous cell carcinomas (SCC).

  9. Borrowed alleles and convergence in serpentine adaptation.

    Science.gov (United States)

    Arnold, Brian J; Lahner, Brett; DaCosta, Jeffrey M; Weisman, Caroline M; Hollister, Jesse D; Salt, David E; Bomblies, Kirsten; Yant, Levi

    2016-07-19

    Serpentine barrens represent extreme hazards for plant colonists. These sites are characterized by high porosity leading to drought, lack of essential mineral nutrients, and phytotoxic levels of metals. Nevertheless, nature forged populations adapted to these challenges. Here, we use a population-based evolutionary genomic approach coupled with elemental profiling to assess how autotetraploid Arabidopsis arenosa adapted to a multichallenge serpentine habitat in the Austrian Alps. We first demonstrate that serpentine-adapted plants exhibit dramatically altered elemental accumulation levels in common conditions, and then resequence 24 autotetraploid individuals from three populations to perform a genome scan. We find evidence for highly localized selective sweeps that point to a polygenic, multitrait basis for serpentine adaptation. Comparing our results to a previous study of independent serpentine colonizations in the closely related diploid Arabidopsis lyrata in the United Kingdom and United States, we find the highest levels of differentiation in 11 of the same loci, providing candidate alleles for mediating convergent evolution. This overlap between independent colonizations in different species suggests that a limited number of evolutionary strategies are suited to overcome the multiple challenges of serpentine adaptation. Interestingly, we detect footprints of selection in A. arenosa in the context of substantial gene flow from nearby off-serpentine populations of A. arenosa, as well as from A. lyrata In several cases, quantitative tests of introgression indicate that some alleles exhibiting strong selective sweep signatures appear to have been introgressed from A. lyrata This finding suggests that migrant alleles may have facilitated adaptation of A. arenosa to this multihazard environment. PMID:27357660

  10. Analysis of the distribution of HLA-A alleles in populations from five continents.

    Science.gov (United States)

    Middleton, D; Williams, F; Meenagh, A; Daar, A S; Gorodezky, C; Hammond, M; Nascimento, E; Briceno, I; Perez, M P

    2000-10-01

    The variation and frequency of HLA-A genotypes were established by PCR-SSOP typing in diverse geographically distributed populations: Brazilian, Colombian Kogui, Cuban, Mexican, Omani, Singapore Chinese, and South African Zulu. HLA-A allelic families with only one allele were identified for HLA-A*01, -A*23, -A*25, -A*31, -A*32, -A*36, -A*43, -A*69, -A*80; and with two alleles for HLA-A*03, -A*11, -A*26, -A*29, -A*33, -A*34, and -A*66. Greater variation was detected for HLA-A*02, -A*24, and -A*68 allele families. Colombian Kogui and Mexican Seris showed the least diversity with respect to HLA-A alleles, albeit with small numbers tested, with only four and five HLA-A alleles identified, respectively. It would appear by their presence in all populations studied, either rural or indigenous, that certain alleles are very important in pathogen peptide presentation. PMID:11082518

  11. Effects of the APOE ε2 Allele on Mortality and Cognitive Function in the Oldest Old

    DEFF Research Database (Denmark)

    Lindahl-Jacobsen, Rune; Tan, Qihua; Mengel-From, Jonas;

    2013-01-01

    . We did not find a protective effect of the APOE ε2 allele on mortality among the oldest old, but in agreement with our previous findings, we found a 22% increased mortality risk for APOE ε4 carriers. The APOE ε2 allele may be protective on cognitive decline among the oldest old.......Some studies indicate that the APOE ε2 allele may have a protective effect on mortality and mental health among the elderly adults. We investigated the effect of the APOE ε2 allele on cognitive function and mortality in 1651 members of the virtually extinct Danish 1905 birth cohort. We found...... no protective effect of the APOE ε2 allele on mortality compared with the APOE ε3 allele. The point estimates indicated an increased protection against cognitive decline over time for persons with the APOE ε2 allele. Cognitive score did not significantly modify the mortality risk of the various APOE genotypes...

  12. Thyroid Function Test Imbalance in Epileptic Children Under Anticonvulsive Therapy

    Directory of Open Access Journals (Sweden)

    Mohammad TORKAMAN

    2012-03-01

    Full Text Available How to Cite this Article: Ravi Torkaman M, Amirsalari S, Saburi A. Thyroid Function Test Imbalance in Epileptic ChildrenUnder Anticonvulsive Therapy. Iranian Journal of Child Neurology 2012;6(1:43-44. Dear Editor,There have been many studies regarding the impact of antiepileptic drugs(AEDs on thyroid function. There are some challenging scopes which must beconsidered for conducting the study adressing the focused question. “Which oneof the thyroid hormones is related to the AEDs consumption?”. Some studiesdemonstrated that there may be alterations in all thyroid function tests (T3, T4 andTSH after antiepileptic therapy in children (1. Some studies concluded that longtermprescription of anticonvulsive medications resulted in a decline in serum T4levels, although it had no effect on serum TSH levels. However, changes in serumT3 level was challenging and it must be investigated further (2.There were some confounding factors which may interfere with the conclusion.One of them is the type of the study. There are various study plans for this purposesuch as cross-sectional, case-control, experimental, self-controlled cohort anddouble-blind randomized clinical trial studies. It seems that the proper protocol ofstudy for this propose is a double-blind randomized clinical trial study. By usingother designs, the authors cannot interpret the effect of AEDs on thyroid function;however, they can discuss the prevalence of thyroid hormone imbalance and thecoordination among T3, T4 and TSH.Moreover, one of the confounding factors is the thyroid binding globulin (TBGeffect. It has appeared that some of the AEDs may change the amount of TBGand in this way may affect the amount of thyroid hormones (3. Clonazepamand valproic acid do not have any enzyme inducing effects, but phenobarbital,carbamazepine, phenytoin and primidone may induce the hepatic enzyme (4-6. Therefore, it seems necessary to analyze each group of patients based on thetype of drug which is

  13. Chromosomal imbalances revealed in primary rhabdomyosarcomas by comparative genomic hybridization

    Institute of Scientific and Technical Information of China (English)

    LI Qiao-xin; LIU Chun-xia; CHUN Cai-pu; QI Yan; CHANG Bin; LI Xin-xia; CHEN Yun-zhao; NONG Wei-xia; LI Hong-an; LI Feng

    2009-01-01

    Background Previous cytogenetic studies revealed aberrations varied among the throe subtypes of rhabdomyosarcoma. We profiled chromosomal imbalances in the different subtypes and investigated the relationships between clinical parameters and genomic aberrations.Methods Comparative genomic hybridization was used to investigate genomic imbalances in 25 cases of primary rhabdomyosarcomas and two rhabdomyosarcoma cell lines. Specimens were reviewed to determine histological type, pathological grading and clinical staging.Results Changes involving one or more regions of the genome were seen in all rhabdomyosarcomal patients. For rhabdomyosarcoma, DNA sequence gains were most frequently (>30%) seen in chromosomes 2p, 12q, 6p, 9q, 10q, 1p,2q, 6q, 8q, 15q and 18q; losses from 3p, 11p and 6p. In aggressive alveolar rhabdomyosarcoma, frequent gains were seen on chromosomes 12q, 2p, 6p, 2q, 4q, 10q and 15q; losses from 3p, 6p, 1q and 5q. For embryonic rhabdomyosarcoma, frequent gains were on 7p, 9q, 2p, 18q, 1p and 8q; losses only from 11p. Frequently gained chromosome arms of translocation associated with rhabdomyosarcoma were 12q, 2, 6, 10q, 4q and 15q; losses from 3p,6p and 5q. The frequently gained chromosome arms of nontranslocation associated with rhabdomyosarcoma were 2p,9q and 18q, while 11p and 14q were the frequently lost chromosome arms. Gains on chromosome 12q were significantly correlated with translocation type. Gains on chromosome 9q were significantly correlated with clinical staging. Conclusions Gains on chromosomes 2p, 12q, 6p, 9q, 10q, 1p, 2q, 6q, 8q, 15q and 18q and losses on chromosomes 3p, 11p and 6p may be related to rhabdomyosarcomal carcinogenesis. Furthermore, gains on chromosome 12q may be correlated with translocation and gains on chromosome 9q with the early stages of rhabdomyosarcoma.

  14. Different Approaches in Addressing Internal and External Economic Imbalances

    Institute of Scientific and Technical Information of China (English)

    郭树清

    2008-01-01

    This article analyzes the internal and external imbalances of China’s economy from a global perspective. The author believes that trade surplus and savings surplus are not the absolute metrics to define a country’s economic strength. China’s balance of payments has continued to maintain a big surplus, which shows China’s unique economic structure and growth model and exposes deep contradictions in income distribution, factor prices and resource allocation. While stimulating rapid growth, the imbalance of China’s economy, at the same time, has long delayed the upgrading of industrial structure, aggravating the threat of inflation and heightening concerns of an asset bubble. Although the external and internal imbalances are closely linked to each other, they are quite different in nature. This similar global economic imbalance has existed for a long time, and to a great extent, is inevitable and rational. However, internal imbalances caused by its own systems and policies, if lasted, would have severe and negative impacts not only on China’s economy, but on the global economy as a whole.

  15. Imbalance in treatment assignments in stratified blocked randomization.

    Science.gov (United States)

    Hallstrom, A; Davis, K

    1988-12-01

    Blocking and stratification are used in preparing randomization assignments to ensure that there will be nearly equal numbers of patients in each treatment group and that the groups will be similar with respect to important covariates. Stratified blocked randomization will create near balance within strata, but imbalance for the total trial may still occur. The variance for the total trial imbalance D is derived and examples from clinical trials are given. Under reasonable assumptions, if the blocking factor is size B in each of K strata, then max D = KB/2 and var D = K(B + 1)/6. These results may be used in planning a trial to estimate the overall imbalance expected for various choices of B and K. A conditional variance is given that allows the probability of an observed imbalance at the completion of a trial to be evaluated. Overall imbalance is about as likely with stratified blocked randomization as with simple randomization unless the total sample size N is appreciably larger than K X B. So long as the blinding is maintained, the block sizes should be chosen to be as small as possible. PMID:3203527

  16. Effort-reward imbalance and self-rated health among Gambian healthcare professionals

    OpenAIRE

    Darboe, Amadou; Lin, I-Feng; Kuo, Hsien-Wen

    2016-01-01

    Background The effort-reward imbalance (ERI) model of work stress has been widely applied in investigating association between psychosocial factors at work and health. This study examined associations between perceived psychosocial work stress as measured by the ERI model and self-rated health (SRH) among nurses and environmental health officers (EHOs) working in secondary public healthcare facilities in the Gambia. Method A cross-sectional study on a random sample of 287 health care professi...

  17. The Dopamine Imbalance Hypothesis of Fatigue in Multiple Sclerosis and Other Neurological Disorders

    OpenAIRE

    Dobryakova, Ekaterina; Genova, Helen M.; DeLuca, John; Wylie, Glenn R.

    2015-01-01

    Fatigue is one of the most pervasive symptoms of multiple sclerosis (MS), and has engendered hundreds of investigations on the topic. While there is a growing literature using various methods to study fatigue, a unified theory of fatigue in MS is yet to emerge. In the current review, we synthesize findings from neuroimaging, pharmacological, neuropsychological, and immunological studies of fatigue in MS, which point to a specific hypothesis of fatigue in MS: the dopamine imbalance hypothesis....

  18. The Dopamine Imbalance Hypothesis of Fatigue in Multiple Sclerosis and Other Neurological Disorders.

    OpenAIRE

    Ekaterina eDobryakova; Genova, Helen M.; John eDeLuca; Wylie, Glenn R.

    2015-01-01

    Fatigue is one of the most pervasive symptoms of multiple sclerosis (MS), and has engendered hundreds of investigations on the topic. While there is a growing literature using various methods to study fatigue, a unified theory of fatigue in MS is yet to emerge. In the current review, we synthesize findings from neuroimaging, pharmacological, neuropsychological and immunological studies of fatigue in MS, which point to a specific hypothesis of fatigue in MS: the dopamine imbalance hypothesis. ...

  19. Postoperative shoulder imbalance in Lenke Type 1A adolescent idiopathic scoliosis and related factors

    OpenAIRE

    Matsumoto, Morio; Watanabe, Kota; Kawakami, Noriaki; Tsuji, Taichi; Uno, Koki; Suzuki, Teppei; Ito, Manabu; Yanagida, Haruhisa; Minami, Shohei; Akazawa, Tsutomu

    2014-01-01

    Backgrounds The purpose of this study was to investigate the occurrence and factors associated with postoperative shoulder imbalance (PSI) in Lenke type 1A curve. Methods This study included 106 patients with Lenke Type 1A curve who were followed up more than two years after posterior correction surgery. Pedicle screw (PS) constructs were used in 84 patients, and hybrid constructs in 22. The upper instrumented vertebra was rostral to the upper-end vertebra (UEV) in 70 patients, at UEV in 26, ...

  20. Adjustment of Global Imbalances and Its Impact on China's Economy

    Institute of Scientific and Technical Information of China (English)

    Jianhuai Shi

    2006-01-01

    The present paper discusses ways of adjusting the imbalances of the global economy and its impact on China's economy. The analysis in the paper shows that the cut of US fiscal deficits and the appreciation of the currencies of East Asia, including China ' s RMB, are necessary for a smooth adjustment of the global imbalances. The adjustments will have a positive impact on China's economy and will help China realize its external balance. The increase in public spending on the service sector along with the appreciation of RMB will help China realize the internal balance too. The adjustment of the global imbalances will create opportunities and an external pushing force for China in its industrial restructuring and shift in the model of economic growth.

  1. How gender disparities drive imbalances in health care leadership

    Directory of Open Access Journals (Sweden)

    Hoss MAK

    2011-11-01

    Full Text Available Mary Ann Keogh Hoss1, Paula Bobrowski2, Kathryn J McDonagh3, Nancy M Paris41Health Services Administration, Eastern Washington University, College of Business and Public Administration, Spokane, WA, USA; 2College of Liberal Arts, Auburn University, Auburn, AL, USA; 3Executive Relations, Hospira Inc, Lake Forest, IL, USA; 4Georgia Center for Oncology Research and Education, Atlanta, GA, USAAbstract: Low female representation in US hospital chief executive officer positions has persisted for decades. This article addresses gender disparity in professional development, the rationale for gender differences, and practical strategies to address this imbalance. The health care workforce consists of 75% women, but according to two recent surveys, ie, a state survey and a survey of the top 100 US hospitals, women hold only about 12% of chief executive officer positions in US hospitals. Significant and dedicated efforts by both individuals and organizations are necessary to rectify this imbalance.Keywords: gender, imbalance, leadership, United States, hospitals

  2. 山西省家族性乙型肝炎病例中HLA-DRB1基因位点的分析%Study on HLA-DRB1 alleles in patients with familial hepatitis B in Shanxi

    Institute of Scientific and Technical Information of China (English)

    何晓瑜; 张缭云; 张晓红; 张德梅

    2010-01-01

    目的 探讨HLA-DRB1等位基因多态性与家族性乙型肝炎之间的关系.方法 采用聚合酶链反应-特异性序列寡核苷酸(PCR-SSO)探针基因分型技术结合荧光磁珠流式检测仪,对151例家族性乙肝人群的HLA-DRB1基因位点进行了分析.结果 HLA-DRB1*0701在慢乙肝组的等位基因频率(17.8%)明显高于正常对照组(7.4%),差异有统计学意义(P<0.05,A=1/0.367=2.725);HLA-DRB1*0401/0403/0405及HLA-DRB1*1301/1302在正常对照组的等位基因频率(16.2%;4.4%)明显高于慢乙肝组(5.1%;0),差异有统计学意义(P<0.05,A=3.602;P<0.05).结论 HLA-DRB1*0701与家族性慢性乙型肝炎易感性相关,可能是家族性慢性乙型肝炎的易感基因或连锁基因;HLA-DRB1*0401/0403/0405、HLA-DRB1*1301/1302与家族性慢性乙型肝炎抗性相关,可能是家族性慢性乙型肝炎的抗性基因.宿主的HLA-DRB1可能是预测家族性乙肝转归的主要指标.%Objective To study the association between HLA-DRB1 alleles and familial hepatitis B. Methods HLA-DRB1 alleles of 151 people in the familial hepatitis B families were detected,by using the the polymerase chain reaction-sequence specific oligonucleotide probing(PCR-SSOP) technique. Results The allele frequency of HLA-DRB1 * 0701 in the chronic hepatitis B(CHB) group was markedly higher than that in the normal control group( 17.8% vs 7.4% ), with significant correlation between them (P <0.05, A = 1/0. 367 ≈2. 725 ). The allele frequencies of HLA-DRB1 * 0401/0403/0405 and HLA-DRB1 *1301/1302 in the normal control group( 16. 2% ,4.4% ) were markedly higher than that in the CHB group (5. 1% ,0) ,with statistical significance ( P < 0. 05, A = 3. 602; P < 0. 05 ). The other alleles between the CHB group and the normal control group are no significant differences. Conclusion HLA-DRB1 * 0701 is closely associated with the susceptibility to familial hepatitis B ,and may be the susceptible or linkage gene.HLA-DRB1 * 0401/0403/0405 and HLA

  3. GLOBAL IMBALANCES, CRISIS AND THE LACK OF GLOBAL GOVERNANCE

    Directory of Open Access Journals (Sweden)

    VIOLETA GIANINA DRAGOTĂ

    2012-11-01

    Full Text Available While briefly shrinking during the global crisis, global imbalances in trade and financial flows and their underlying systemic causes have not gone away. The current monetary non-order causes developing countries to adopt defensive strategies against fickle markets and allows developed countries to engage in beggar-thy-neighbour strategies, with a reliance on exports serving to offset their failure to manage domestic demand. Global imbalances are a symptom of existing systemic governance shortcomings. They can only be properly addressed by global governance reform and proper international policy coordination.

  4. In-phase and quadrature imbalance modeling, estimation, and compensation

    CERN Document Server

    Li, Yabo

    2013-01-01

    This book provides a unified IQ imbalance model and systematically reviews the existing estimation and compensation schemes. It covers the different assumptions and approaches that lead to many models of IQ imbalance. In wireless communication systems, the In-phase and Quadrature (IQ) modulator and demodulator are usually used as transmitter (TX) and receiver (RX), respectively. For Digital-to-Analog Converter (DAC) and Analog-to-Digital Converter (ADC) limited systems, such as multi-giga-hertz bandwidth millimeter-wave systems, using analog modulator and demodulator is still a low power and l

  5. The dopamine imbalance hypothesis of fatigue in multiple sclerosis and other neurological disorders.

    Science.gov (United States)

    Dobryakova, Ekaterina; Genova, Helen M; DeLuca, John; Wylie, Glenn R

    2015-01-01

    Fatigue is one of the most pervasive symptoms of multiple sclerosis (MS), and has engendered hundreds of investigations on the topic. While there is a growing literature using various methods to study fatigue, a unified theory of fatigue in MS is yet to emerge. In the current review, we synthesize findings from neuroimaging, pharmacological, neuropsychological, and immunological studies of fatigue in MS, which point to a specific hypothesis of fatigue in MS: the dopamine imbalance hypothesis. The communication between the striatum and prefrontal cortex is reliant on dopamine, a modulatory neurotransmitter. Neuroimaging findings suggest that fatigue results from the disruption of communication between these regions. Supporting the dopamine imbalance hypothesis, structural and functional neuroimaging studies show abnormalities in the frontal and striatal regions that are heavily innervated by dopamine neurons. Further, dopaminergic psychostimulant medication has been shown to alleviate fatigue in individuals with traumatic brain injury, chronic fatigue syndrome, and in cancer patients, also indicating that dopamine might play an important role in fatigue perception. This paper reviews the structural and functional neuroimaging evidence as well as pharmacological studies that suggest that dopamine plays a critical role in the phenomenon of fatigue. We conclude with how specific aspects of the dopamine imbalance hypothesis can be tested in future research. PMID:25814977

  6. The Dopamine Imbalance Hypothesis of Fatigue in Multiple Sclerosis and Other Neurological Disorders.

    Directory of Open Access Journals (Sweden)

    Ekaterina eDobryakova

    2015-03-01

    Full Text Available Fatigue is one of the most pervasive symptoms of multiple sclerosis (MS, and has engendered hundreds of investigations on the topic. While there is a growing literature using various methods to study fatigue, a unified theory of fatigue in MS is yet to emerge. In the current review, we synthesize findings from neuroimaging, pharmacological, neuropsychological and immunological studies of fatigue in MS, which point to a specific hypothesis of fatigue in MS: the dopamine imbalance hypothesis. The communication between the striatum and prefrontal cortex is reliant on dopamine, a modulatory neurotransmitter. Neuroimaging findings suggest that fatigue results from the disruption of communication between these regions. Supporting the dopamine imbalance hypothesis, structural and functional neuroimaging studies show abnormalities in the frontal and striatal regions that are heavily innervated by dopamine neurons. Further, dopaminergic psychostimulant medication has been shown to alleviate fatigue in individuals with traumatic brain injury, chronic fatigue syndrome and in cancer patients, also indicating that dopamine might play an important role in fatigue perception. This paper reviews the structural and functional neuroimaging evidence as well as pharmacological studies that suggest that dopamine plays a critical role in the phenomenon of fatigue. We conclude with how specific aspects of the dopamine imbalance hypothesis can be tested in future research.

  7. Photospheric Magnetic Field: Relationship Between North-South Asymmetry and Flux Imbalance

    OpenAIRE

    Vernova, E. S.; Tyasto, M. I.; Baranov, D. G.

    2012-01-01

    Photospheric magnetic fields were studied using the Kitt Peak synoptic maps for 1976-2003. Only strong magnetic fields (B>100 G) of the equatorial region were taken into account. The north-south asymmetry of the magnetic fluxes was considered as well as the imbalance between positive and negative fluxes. The north-south asymmetry displays a regular alternation of the dominant hemisphere during the solar cycle: the northern hemisphere dominated in the ascending phase, the southern one in the d...

  8. Inflammation Activation Contributes to Adipokine Imbalance in Patients with Acute Coronary Syndrome.

    Science.gov (United States)

    Li, Rong; Chen, Lu-zhu; Zhao, Shui-ping; Huang, Xian-sheng

    2016-01-01

    Inflammation can be activated as a defensive response by the attack of acute coronary syndrome (ACS) for ischemic tissue injury. The aim of the present study was to investigate the impact of ACS-activated inflammation on adipokine imbalance and the effects of statins on the crosstalk between inflammation and adipokine imbalance during ACS. In this study, 586 subjects were categorized into: (1) control group; (2) SA (stable angina) group; and (3) ACS group. Circulating levels of hs-CRP, adiponectin and resistin were measured by ELISA. Furthermore, forty C57BL/6 mice were randomized into: sham, AMI, low-statin (atorvastatin, 2 mg/kg/day) and high-statin (atorvastatin, 20 mg/kg/day) group. After 3 weeks, AMI models were established by surgical coronary artery ligation. Circulating levels and adipose expressions of adiponectin and resistin were assessed in animals. Besides, we investigate the effects of atorvastatin on ox-LDL-induced adipokine imbalance in vitro. As a result, we found that ACS patients had higher hs-CRP and resistin levels and lower adiponectin levels. Our correlation analysis demonstrated hs-CRP concentrations were positively correlated with resistin but negatively with adiponectin levels in humans. Our animal findings indicated higher circulating hs-CRP and resistin levels and lower adiponectin levels in AMI mice. Atorvastatin pre-treatment dose-dependently decreased hs-CRP and resistin levels but increased adiponectin levels in mice. The consistent findings were observed about the adipose expressions of resistin and adiponectin in mice. In study in vitro, ox-LDL increased cellular resistin expressions and otherwise for adiponectin expressions, which dose-dependently reversed by the addition of atorvastatin. Therefore, our study indicates that the ACS attack activates inflammation leading to adipokine imbalance that can be ameliorated by anti-inflammation of atorvastatin.

  9. Population studies of the human V kappa A18 gene polymorphism in Caucasians, blacks and Eskimos. New functional alleles and evidence for evolutionary selection of a more restricted antibody repertoire

    DEFF Research Database (Denmark)

    Juul, L; Hougs, L; Andersen, V;

    1997-01-01

    and sequenced four apparently functional alleles and determined the gene frequencies in three well-defined populations: Danish Caucasians, eastern Greenland Eskimos and Mozambican blacks. The A18b allele that was recently described in Native American Navajos by Atkinson et al. was found in all three populations...

  10. Low frequency of the scrapile resistance-associated allele and presence of lysine-171 allele of the prion protein gene in Italian Biellese ovine breed

    NARCIS (Netherlands)

    Acutis, P.L.; Sbaiz, L.; Verburg, F.J.; Riina, M.V.; Ru, G.; Moda, G.; Caramelli, M.; Bossers, A.

    2004-01-01

    Frequencies of polymorphisms at codons 136, 154 and 171 of the prion protein (PrP) gene were studied in 1207 pure-bred and cross-bred Italian Biellese rams, a small ovine breed of about 65 000 head in Italy. Aside from the five most common alleles (VRQ, ARQ, ARR, AHQ and ARH), the rare ARK allele wa

  11. Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data.

    Science.gov (United States)

    Phillips, C; Amigo, J; Carracedo, Á; Lareu, M V

    2015-11-01

    Multiple-allele single nucleotide polymorphisms (SNPs) are potentially useful for forensic DNA analysis as they can provide more discrimination power than normal binary SNPs. In addition, the presence in a profile of more than two alleles per marker provides a clearer indication of mixed DNA than assessments of imbalanced signals in the peak pairs of binary SNPs. Using the 1000 Genomes Phase III human variant data release of 2014 as the starting point, this study collated 961 tetra-allelic SNPs that pass minimum sequence quality thresholds and where four separate nucleotide substitution alleles were detected. Although most of these loci had three of the four alleles in combined frequencies of 2% or less, 160 had high heterozygosities with 50 exceeding those of 'ideal' 0.5:0.5 binary SNPs. From this set of most polymorphic tetra-allelic SNPs, we identified markers most informative for forensic purposes and explored these loci in detail. Subsets of the most polymorphic tetra-allelic SNPs will make useful additions to current panels of forensic identification SNPs and ancestry-informative SNPs. The 24 most discriminatory tetra-allelic SNPs were estimated to detect more than two alleles in at least one marker per profile in 99.9% of mixtures of African contributors. In European contributor mixtures 99.4% of profiles would show multiple allele patterns, but this drops to 92.6% of East Asian contributor mixtures due to reduced levels of polymorphism for the 24 SNPs in this population group. PMID:26209763

  12. 监狱干警付出-回报失衡与抑郁倾向的关系:组织支持感的中介作用%Study on Relationship Between Effort-reward Imbalance and Depressive Tendency Among Prison Policemen: the Mediation Role of Perceived Organizational Support

    Institute of Scientific and Technical Information of China (English)

    马磊; 胡姝; 王烈

    2013-01-01

    目的 了解监狱干警的抑郁倾向情况,探讨组织支持感在付出-回报失衡与抑郁倾向关系中的中介作用.方法 运用整群抽样的方法对某省四所监狱的1 800名监狱干警进行问卷调查,问卷包括流行病调查用抑郁自评量表、付出-回报失衡问卷、组织支持感量问卷. 结果 监狱干警的抑郁倾向率为58.6%,抑郁倾向与付出回报失衡问卷的付出和超负荷维度呈显著正相关,与回报维度和组织支持感呈显著负相关.付出-回报失衡问卷对抑郁倾向解释变异量为30.7%,组织支持感的中介作用对抑郁倾向解释变异量为3%. 结论 监狱干警抑郁情况比较严重,付出-回报失衡和组织支持感对抑郁倾向有很好的预测作用,组织支持感在付出、回报与抑郁倾向的关系中起了中介作用.%Objective To investigate the situation of depressive tendency in prison policemen, and to explore the relationship among effort - reward imbalance, perceived organizational support and depressive tendency. Methods A stratified cluster sampling method was used to investigate 1,800 prison policemen from four prisons of one province with Center for Epidemiologic Studies Depression Scale, Effort - reward Imbalance Questionnaire, and Perceived Organizational Support Questionnaire. Results The depressive tendency rate of prison policemen was 58.6 % . The depressive tendency was positively correlated with the effort and the overload, but negatively related to the reward and the perceived organizational support. The contribution of effort - reward imbalance to depressive tendency was 30. 7% . The mediating effect of the perceived organizational support contributed 3 % of the depressive tendency. Conclusions The depressive tendency of the prison policemen is serious. The effort - reward imbalance and perceived organizational support are significantly predictive for depressive tendency. The perceived organizational support has a mediating

  13. Identification and characterization of variant alleles at CODIS STR loci.

    Science.gov (United States)

    Allor, Catherine; Einum, David D; Scarpetta, Marco

    2005-09-01

    Short tandem repeat (STR) profiles from 32,671 individuals generated by the ABI Profiler Plus and Cofiler systems were screened for variant alleles not represented within manufacturer-provided allelic ladders. A total of 85 distinct variants were identified at 12 of the 13 CODIS loci, most of which involve a truncated tetranucleotide repeat unit. Twelve novel alleles, identified at D3S1358, FGA, D18S51, D5S818, D7S820 and TPOX, were confirmed by nucleotide sequence analysis and include both insertions and deletions involving the repeat units themselves as well as DNA flanking the repeat regions. Population genetic data were collected for all variants and frequencies range from 0.0003 (many single observations) to 0.0042 (D7S820 '10.3' in North American Hispanics). In total, the variant alleles identified in this study are carried by 1.6% of the estimated 1 million individuals tested annually in the U.S. for the purposes of parentage resolution. A paternity case involving a recombination event of paternal origin is presented and demonstrates how variant alleles can significantly strengthen the genetic evidence in troublesome cases. In such instances, increased costs and turnaround time associated with additional testing may be eliminated.

  14. Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles

    Directory of Open Access Journals (Sweden)

    Masaya Itou

    2013-01-01

    Full Text Available The human ABO blood group gene consists of three main alleles (A, B, and O that encode a glycosyltransferase. The A and B alleles differ by two critical amino acids in exon 7, and the major O allele has a single nucleotide deletion (Δ261 in exon 6. Previous evolutionary studies have revealed that the A allele is the most ancient, B allele diverged from the A allele with two critical amino acid substitutions in exon 7, and the major O allele diverged from the A allele with Δ261 in exon 6. However, a recent phylogenetic network analysis study showed that the A allele of humans emerged through a recombination between the B and O alleles. In the previous study, a restricted dataset from only two populations was used. In this study, therefore, we used a large single nucleotide polymorphism (SNP dataset from the HapMap Project. The results indicated that the A101-A201-O09 haplogroup was a recombinant lineage between the B and O haplotypes, containing the intact exon 6 from the B allele and the two critical A type sites in exon 7 from the major O allele. Its recombination point was assumed to be located just behind Δ261 in exon 6.

  15. ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease.

    Science.gov (United States)

    Sorbi, S; Nacmias, B; Forleo, P; Latorraca, S; Gobbini, I; Bracco, L; Piacentini, S; Amaducci, L

    1994-08-15

    Recent studies have provided evidence of association of apolipoprotein E (ApoE) epsilon 4 allele and late onset familial and sporadic Alzheimer's disease (AD). Epidemiological studies have established allelic variation at the ApoE locus. We have analyzed the ApoE gene polymorphism in a sample of 446 Italian subjects. Our data confirm a significant association between epsilon 4 allele and sporadic AD. The frequency of epsilon 4 allele in early onset familial AD patients was comparable to control values suggesting that epsilon 4 allele does not represent a risk factor for early onset familial AD (EOFAD). Moreover, we found a not previously reported association between ApoE epsilon 2 allele and sporadic AD and EOFAD. PMID:7824157

  16. Allelic diversity and molecular characterization of puroindoline genes in five diploid species of the Aegilops genus.

    Science.gov (United States)

    Cuesta, Susana; Guzmán, Carlos; Alvarez, Juan B

    2013-11-01

    Grain hardness is an important quality trait in wheat. This trait is related to the variation in, and the presence of, puroindolines (PINA and PINB). This variation can be increased by the allelic polymorphism present in the Aegilops species that are related to wheat. This study evaluated allelic Pina and Pinb gene variability in five diploid species of the Aegilops genus, along with the molecular characterization of the main allelic variants found in each species. This polymorphism resulted in 16 alleles for the Pina gene and 24 alleles for the Pinb gene, of which 10 and 17, respectively, were novel. Diverse mutations were detected in the deduced mature proteins of these alleles, which could influence the hardness characteristics of these proteins. This study shows that the diploid species of the Aegilops genus could be a good source of genetic variability for both Pina and Pinb genes, which could be used in breeding programmes to extend the range of different textures in wheat.

  17. Trade integration and trade imbalances in the European Union: a network perspective

    CERN Document Server

    Krings, Gautier M; Delvenne, Jean-Charles

    2013-01-01

    We study the ever more integrated and ever more unbalanced trade relationships between European countries. To better capture the complexity of economic networks, we propose two global measures that assess the trade integration and the trade imbalances of the European countries. These measures are the network (or indirect) counterparts to traditional (or direct) measures such as the trade-to-GDP (Gross Domestic Product) and trade deficit-to-GDP ratios. Our indirect tools account for the European inter-country trade structure and follow (i) a decomposition of the global trade flow into elementary flows that highlight the long-range dependencies between exporting and importing economies and (ii) the commute-time distance for trade integration,which measures the impact of a perturbation in the economy of a country on another country, possibly through intermediate partners by domino effect. Our application addresses the impact of the launch of the Euro. We find that the indirect imbalance measures better identify ...

  18. Compensation for HPA nonlinearity and I/Q imbalance in MIMO beamforming systems

    KAUST Repository

    Qi, Jian

    2010-10-01

    In this paper, we investigate the effects of high-power amplifier (HPA) nonlinearity and in-phase and quadrature-phase (I/Q) imbalance on the performance of multiple-input multiple-output (MIMO) transmit beamforming (TB) systems. Specifically, we propose a compensation method for HPA nonlinearity and I/Q imbalance together in MIMO TB systems. The performance of the MIMO TB system under study is evaluated in terms of the average symbol error probability (SEP) and system capacity, considering transmission over uncorrelated frequency-flat Rayleigh fading channels. Numerical results are provided and show the effects of several system parameters, such as the HPA parameters, image-leakage ratio, numbers of transmit and receive antennas, length of pilot symbols, and modulation order of phase-shift keying (PSK), on performance. © 2010 IEEE.

  19. CONTROL PARAMETERS FOR UNDERSTANDING AND PREVENTING PROCESS IMBALANCES IN BIOGAS PLANTS. EMPHAS IS ON VFA DYNAMICS

    DEFF Research Database (Denmark)

    Bangsø Nielsen, Henrik

    control and understanding are necessary. The work of present study was directed towards this challenge. Initially, the response of the anaerobic digestion process to various types of process imbalances was investigated with special focus on volatile fatty acid dynamics (VFA), methane production and p...... out on the basis of the methane production or on the basis of fluctuations in the concentration of propionate. The experiment confirmed that propionate is a useful parameter for (1) indication of process imbalances and (2) for regulation and optimization of the anaerobic digestion process in CSTRs....... In order to gain a better insight in the activity of the propionate degraders under different operational conditions the kinetic parameters of propionate degradation by biomass from 10 CSTRs differing in temperature, hydraulic retention time (HRT) and substrates were estimated in batch substrate...

  20. Imbalance in the Hydrologic Cycle-Open Systems, Ebbs and Flows, and Multi-Stable States

    Science.gov (United States)

    Stonestrom, D. A.

    2011-12-01

    The hydrosphere is characterized by extraordinarily large-scale chemostasis and hydrostasis. The interconnected oceans hold >95% of the planetary water in circulation and have not greatly changed in volume since the Proterozoic, despite tectonic motions of super-continental proportions. Similarly, the chemistry of the ocean has remained relatively constant since the proliferation of widespread multicellular life and abundant oxygen some 0.6 billion years ago. Ancient humans recognized that "All rivers runneth to the sea, yet the sea doth not filleth up." The solution to this paradox is the 17th-century paradigm of the hydrologic cycle; however, the commonly made corollary assumption of hydrologic balance disappears upon analysis across the entire range of observations available through ground-based networks, satellite imaging, and proxy data on paleo-hydrologic states (chemical, isotopic, tree-rings, speleothems, etc.). Water imbalance as the normative state is supported by theoretical consideration of hydrologic responses to superimposed steady-, periodic-, and irregular forcings such as geothermal gradients, diurnal and annual cycles, and orbital irregularities. Hydrologic systems are open across all scales with respect to thermal-energy throughput and are often far from equilibrium. Temporal-spatial variations of thermal inputs and stores coupled with feedbacks from interacting biologic and geologic processes lead to chaotically punctuated water imbalances with profound consequences for ecosystem succession, water resources, long-term agricultural sustainability, and acute risk from floods and droughts. Imbalance in hydrologic systems through time is evident from studies of soils and sediments and from data on deep unsaturated zones in tropical to arid regions; these studies reveal repeated cycles of salinity accumulation and pluvial flushing and shifting frequencies of floods and droughts. Anthropogenic intensification of the hydrologic cycle-with attendant

  1. Global Imbalance:Onus On the United States

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    During the China-U.S. Business Forum held in Beijing February 14-15, Xia Bin, Director of the Financial Research Institute of the Development Research Center under the State Council, makes a speech on the United States' responsibility for global economic imbalances. His main ideas as reported in the China Business News, follow:

  2. Balance Responsibility and Imbalance Settlement in Northern Europe: An Evaluation

    NARCIS (Netherlands)

    Van der Veen, R.A.C.; Hakvoort, R.A.

    2009-01-01

    In liberalized power markets, balance responsibility and imbalance settlement are two closely related elements that constitute the heart of a balancing market (which is actually an institutional arrangement establishing market-based balancing). This paper aims to compare balance responsibility and i

  3. Addressing Gender Imbalance in Nigeria's Higher Education through Institutional Framework

    Science.gov (United States)

    Okeke, Emeka Paul

    2013-01-01

    This paper examined the gender imbalance among students in Nigeria's higher education and the possible ways to addressing them. The poor access of female gender to higher education in Nigeria has become a thing of great concern to all stakeholders such as School authorities, Government, International agencies and employers of labor. The paper…

  4. Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

    OpenAIRE

    Carney, Amanda E.; Rebecca D Sanders; Garza, Kerry R.; McGaha, Lee Anne; Bean, Lora J. H.; Coffee, Bradford W.; Thomas, James W; Cutler, David J.; Kurtkaya, Natalie L.; Fridovich-Keil, Judith L.

    2009-01-01

    Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT). Patients with Duarte galactosemia demonstrate reduced GALT activity and carry one profoundly impaired GALT allele (G) along with a second, partially impaired GALT allele (Duarte-2, D2). Molecular studies reveal at least five sequence changes on D2 alleles: a p.N314D missense substitution, three intronic base changes and a 4 bp deletion in the 5′ pro...

  5. Implication of HLA-DMA Alleles in Corsican IDDM

    Directory of Open Access Journals (Sweden)

    P. Cucchi-Mouillot

    1998-01-01

    Full Text Available The HLA-DM molecule catalyses the CLIP/antigen peptide exchange in the classical class II peptide-binding groove. As such, DM is an antigen presentation regulator and may be linked to autoimmune diseases. Using PCR derived methods, a relationship was revealed between DM gene polymorphism and IDDM, in a Corsican population. The DMA*0101 allele was observed to confer a significant predisposition to this autoimmune disease while the DMA*0102 allele protected significantly. Experiments examining polymorphism of the HLA-DRB1 gene established that these relationships are not a consequence of linkage disequilibrium with HLA-DRB1 alleles implicated in this pathology. The study of the DMA gene could therefore be an additional tool for early IDDM diagnosis in the Corsican population.

  6. Effect of recovery from muscle strength imbalance in lower limb using four point weight bearing reduction system.

    Science.gov (United States)

    Yu, Chang Ho; Kang, Seung Rok; Jeong, Ho Choon; Kim, Kyung; Kwon, Tae Kyu

    2014-01-01

    This study was performed to assess the improvement of muscle strength imbalance in the lower limbs using a four point weight bearing reduction system with a two-belt treadmill. Participants, each having differences in muscle function of the left and right legs of over 20%, were divided into two groups of ten. The participants were involved in experiments progressing 40 minutes per day, 3 days per week, during a period of 4 weeks. The maximal peak torque and average power were measured for testing joint torque in the hip, knee and ankle. The results showed the improvement of muscle imbalance as assessed by the maximal muscle strength was the most effective in the hip joint, while the improvement of muscular reaction was the most effective in the knee joint. We suggest that the method of weight bearing reduction could be sufficient to reduce muscle imbalance in the lower limbs.

  7. T lymphocyte subset imbalances in patients contribute to ankylosing spondylitis.

    Science.gov (United States)

    Wang, Chenggong; Liao, Qiande; Hu, Yihe; Zhong, DA

    2015-01-01

    Ankylosing spondylitis is a chronic inflammatory rheumatic disease, which is characterized by inflammation of the spine and the sacroiliac joints. To date, the disease etiology remains unclear. In the present study, the correlation of T lymphocyte subset changes with the progression of ankylosing spondylitis was investigated. A total of 55 patients with ankylosing spondylitis (22 severe and 23 mild cases) and 20 healthy individuals were selected. Firstly, the punctured cells in the lesions and the serum were collected, and the lymphocytes and the peripheral blood mononuclear cells were prepared. Secondly, quantitative PCR, ELISA and flow cytometry analyses were carried out to detect the levels of a series of immunoglobulins, complements, helper T cells, cytotoxic T cells, regulatory cells and cytokines. The expression levels of α-globulin, γ-globulin, immunoglobulin (Ig)G, IgA, IgM, serum complement C3, and complement C4 were found to be significantly increased in ankylosing spondylitis patients. In addition, the percentage of Th1 and Th17 cells was found to be significantly higher in the ankylosing spondylitis groups (mild and severe) compared with the healthy individuals. As a result, the Th1/Th2 and Th17/Treg ratios were significantly higher in patients with ankylosing spondylitis. In addition, T lymphocyte subset ratio imbalances contributed to an increased expression of immune mediators, including interferon (IFN)-γ and interleukin (IL)-17A. The mRNA and protein expression levels of IFN-γ and IL-17A were found to be higher in the ankylosing spondylitis groups compared with the control group. The present study provided further evidence on the function and underlying mechanism of T lymphocyte subsets, which may be useful in the diagnosis and treatment of ankylosing spondylitis.

  8. Association of sympathovagal imbalance with cardiovascular risks in overt hypothyroidism

    Directory of Open Access Journals (Sweden)

    Avupati Naga Syamsunder

    2013-01-01

    Full Text Available Background: Cardiovascular morbidities have been reported in hypothyroidism. Aims: The objective of this study is to investigate the link of sympathovagal imbalance (SVI to cardiovascular risks (CVRs and the plausible mechanisms of CVR in hypothyroidism. Materials and Methods: Age-matched 104 females (50 controls, 54 hypothyroids were recruited and their body mass index (BMI, cardiovascular parameters, autonomic function tests by spectral analysis of heart rate variability (HRV, heart rate response to standing, deep breathing and blood pressure response to isometric handgrip were studied. Thyroid profile, lipid profile, immunological and inflammatory markers were estimated and their association with low-frequency to the high-frequency ratio (LF-HF of HRV, the marker of SVI was assessed by multivariate regression. Results: Increased diastolic pressure, decreased HRV, increased LF-HF, dyslipidemia and increased high-sensitive C-reactive protein (hsCRP were observed in hypothyroid patients and all these parameters had significant correlation with LF-HF. BMI had no significant association with LF-HF. Atherogenic index (β 1.144, P = 0.001 and hsCRP (b 0.578, P = 0.009 had independent contribution to LF-HF. LF-HF could significantly predict hypertension status (odds ratio 2.05, confidence interval 1.110-5.352, P = 0.008 in hypothyroid subjects. Conclusions: SVI due to sympathetic activation and vagal withdrawal occurs in hypothyroidism. Dyslipidemia and low-grade inflammation, but not obesity contribute to SVI and SVI contributes to cardiovascular risks.

  9. Allele-specific DNA methylation reinforces PEAR1 enhancer activity.

    Science.gov (United States)

    Izzi, Benedetta; Pistoni, Mariaelena; Cludts, Katrien; Akkor, Pinar; Lambrechts, Diether; Verfaillie, Catherine; Verhamme, Peter; Freson, Kathleen; Hoylaerts, Marc F

    2016-08-18

    Genetic variation in the PEAR1 locus is linked to platelet reactivity and cardiovascular disease. The major G allele of rs12041331, an intronic cytosine guanine dinucleotide-single-nucleotide polymorphism (CpG-SNP), is associated with higher PEAR1 expression in platelets and endothelial cells than the minor A allele. The molecular mechanism underlying this difference remains elusive. We have characterized the histone modification profiles of the intronic region surrounding rs12041331 and identified H3K4Me1 enhancer-specific enrichment for the region that covers the CpG-SNP. Interestingly, methylation studies revealed that the CpG site is fully methylated in leukocytes of GG carriers. Nuclear protein extracts from megakaryocytes, endothelial cells, vs control HEK-293 cells show a 3-fold higher affinity for the methylated G allele compared with nonmethylated G or A alleles in a gel electrophoretic mobility shift assay. To understand the positive relationship between methylation and gene expression, we studied DNA methylation at 4 different loci of PEAR1 during in vitro megakaryopoiesis. During differentiation, the CpG-SNP remained fully methylated, while we observed rapid methylation increases at the CpG-island overlapping the first 5'-untranslated region exon, paralleling the increased PEAR1 expression. In the same region, A-allele carriers of rs12041331 showed significantly lower DNA methylation at CGI1 compared with GG homozygote. This CpG-island contains binding sites for the methylation-sensitive transcription factor CTCF, whose binding is known to play a role in enhancer activation and/or repression. In conclusion, we report the molecular characterization of the first platelet function-related CpG-SNP, a genetic predisposition that reinforces PEAR1 enhancer activity through allele-specific DNA methylation. PMID:27313330

  10. Effort-reward imbalance and burnout among German nurses in medical compared with psychiatric hospital settings.

    Science.gov (United States)

    Schulz, M; Damkröger, A; Heins, C; Wehlitz, L; Löhr, M; Driessen, M; Behrens, J; Wingenfeld, K

    2009-04-01

    The aim of this study was to investigate whether nurses' efforts and rewards, as well as the effort-reward imbalance (ERI) and burnout, differ between subjects working in psychiatric vs. medical hospitals and between nurses under education and examined nurses respectively. Furthermore, the relationship between ERI and burnout was evaluated. Nursing is associated with high levels of emotional strain and heavy workloads. Burnout and a negative ERI can result in high absenteeism and turnover and have been identified as reasons why nurses leave their profession. In the last decade, working conditions of the nursing profession have changed in Germany, but somatic and psychiatric hospitals developed in different ways. This development may lead to different profiles. A sample of 389 nurses (78.8% female) in four German hospitals was investigated. A total of 147 nurses worked in psychiatric hospitals and 236 nurses worked in medical (somatic) hospitals. Fifty participants were still under education. The Effort-Reward Imbalance Inventory measures effort, reward and overcommitment at job and provides an imbalance score between effort and reward. The Maslach Burnout Inventory with the subscales, emotional exhaustion, lack of accomplishment and depersonalization, was also used. Nurses working in medical hospitals reported more burnout and had higher ERI scores. Subjects under education were comparable to examined nurses in terms of burnout but had lower ERI scores. Multiple regression analyses showed all ERI scales to be significant predictors for emotional exhaustion, while age, field of work and educational status further predict effort or ERI respectively. At present, the working situation of nurses in different settings appears to be characterized by a perceived imbalance of effort and reward and is associated with a high risk of developing burnout symptoms.

  11. Can an energy balance model provide additional constraints on how to close the energy imbalance?

    Science.gov (United States)

    Wohlfahrt, Georg; Widmoser, Peter

    2013-02-15

    Elucidating the causes for the energy imbalance, i.e. the phenomenon that eddy covariance latent and sensible heat fluxes fall short of available energy, is an outstanding problem in micrometeorology. This paper tests the hypothesis that the full energy balance, through incorporation of additional independent measurements which determine the driving forces of and resistances to energy transfer, provides further insights into the causes of the energy imbalance and additional constraints on energy balance closure options. Eddy covariance and auxiliary data from three different biomes were used to test five contrasting closure scenarios. The main result of our study is that except for nighttime, when fluxes were low and noisy, the full energy balance generally did not contain enough information to allow further insights into the causes of the imbalance and to constrain energy balance closure options. Up to four out of the five tested closure scenarios performed similarly and in up to 53% of all cases all of the tested closure scenarios resulted in plausible energy balance values. Our approach may though provide a sensible consistency check for eddy covariance energy flux measurements. PMID:24465072

  12. Can an energy balance model provide additional constraints on how to close the energy imbalance?

    Science.gov (United States)

    Wohlfahrt, Georg; Widmoser, Peter

    2013-02-15

    Elucidating the causes for the energy imbalance, i.e. the phenomenon that eddy covariance latent and sensible heat fluxes fall short of available energy, is an outstanding problem in micrometeorology. This paper tests the hypothesis that the full energy balance, through incorporation of additional independent measurements which determine the driving forces of and resistances to energy transfer, provides further insights into the causes of the energy imbalance and additional constraints on energy balance closure options. Eddy covariance and auxiliary data from three different biomes were used to test five contrasting closure scenarios. The main result of our study is that except for nighttime, when fluxes were low and noisy, the full energy balance generally did not contain enough information to allow further insights into the causes of the imbalance and to constrain energy balance closure options. Up to four out of the five tested closure scenarios performed similarly and in up to 53% of all cases all of the tested closure scenarios resulted in plausible energy balance values. Our approach may though provide a sensible consistency check for eddy covariance energy flux measurements.

  13. Bias-resolved measurements of charge imbalance in superconductors at ultra-low temperatures

    Energy Technology Data Exchange (ETDEWEB)

    Huebler, Florian [Karlsruher Institut fuer Technologie, Institut fuer Nanotechnologie (Germany); Karlsruher Institut fuer Technologie, Institut fuer Festkoerperphysik (Germany); Camirand Lemyre, Julien; Beckmann, Detlef [Karlsruher Institut fuer Technologie, Institut fuer Nanotechnologie (Germany); Loehneysen, Hilbert von [Karlsruher Institut fuer Technologie, Institut fuer Festkoerperphysik (Germany); Karlsruher Institut fuer Technologie, Physikalisches Institut, Karlsruhe (Germany)

    2010-07-01

    In this study we explore charge imbalance in mesoscopic normal-metal/superconductor multiterminal hybrid structures at ultra-low temperatures (T <imbalance with magnetic field, which can be directly linked to the pair breaking parameter. In contrast practically no temperature dependence of the charge imbalance signal was observed below 0.5 K. These results are relevant for the investigation of other non-local effects such as crossed Andreev reflexion and spin diffusion.

  14. The short-term effects of effort-reward imbalance : Daily and within-day psychological and physiological measurements

    NARCIS (Netherlands)

    Hanson, E.K.S.

    2002-01-01

    In the present thesis, the short-term effects of Effort-Reward Imbalance (ERI) are studied by measuring indices of vagal control, hypothalamo-pituitary-adrenocortical (HPAC) activity and affect. The studies provide an illustration of recent developments in the field. Primarily, Ecological Momentary

  15. Assessment of Infantile Mineral Imbalances in Autism Spectrum Disorders (ASDs

    Directory of Open Access Journals (Sweden)

    Toyoharu Tsutsui

    2013-11-01

    Full Text Available The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children (1,553 males and 414 females aged 0–15 years-old, and discuss recent advances in our understanding of epigenetic roles of infantile mineral imbalances in the pathogenesis of autism. In the 1,967 subjects, 584 (29.7% and 347 (17.6% were found deficient in zinc and magnesium, respectively, and the incidence rate of zinc deficiency was estimated at 43.5% in male and 52.5% in female infantile subjects aged 0–3 years-old. In contrast, 339 (17.2%, 168 (8.5% and 94 (4.8% individuals were found to suffer from high burdens of aluminum, cadmium and lead, respectively, and 2.8% or less from mercury and arsenic. High toxic metal burdens were more frequently observed in the infants aged 0–3 years-old, whose incidence rates were 20.6%, 12.1%, 7.5%, 3.2% and 2.3% for aluminum, cadmium, lead, arsenic and mercury, respectively. These findings suggest that infantile zinc- and magnesium-deficiency and/or toxic metal burdens may be critical and induce epigenetic alterations in the genes and genetic regulation mechanisms of neurodevelopment in the autistic children, and demonstrate that a time factor “infantile window” is also critical for neurodevelopment and probably for therapy. Thus, early metallomics analysis may lead to early screening/estimation and treatment/prevention for the autistic neurodevelopment disorders.

  16. Power Imbalances, Food Insecurity, and Children's Rights in Canada.

    Science.gov (United States)

    Blay-Palmer, Alison

    2016-01-01

    Increasingly, food is provided through an industrial food system that separates people from the source of their food and results in high rates of food insecurity, particularly for the most vulnerable in society. A lack of food is a symptom of a lack of power in a system that privileges free market principles over social justice and the protection of human rights. In Canada, the high rates of food insecurity among Canadian children is a reflection of their lack of power and the disregard of their human rights, despite the adoption of the United Nations (UN) Convention on the Rights of the Child in 1991 and ratification of the International Covenant on Social, Economic and Cultural Rights in 1976, which established the right to food for all Canadians. Dueling tensions between human rights and market forces underpin this unacceptable state of affairs in Canada. Gaventa's "power cube" that describes different facets of power - including spaces, levels, and forms - is used to help understand the power imbalances that underlie this injustice. The analysis considers the impact of neoliberal free market principles on the realization of human rights, and the negative impacts this can have on health and well-being for the most vulnerable in society. Canadian case studies from both community organizations provide examples of how power can be shifted to achieve more inclusive, rights-based policy and action. Given increased global pressures toward more open trade markets and national austerity measures that hollow out social supports, Canada provides a cautionary tale for countries in the EU and the US, and for overall approaches to protect the most vulnerable in society. PMID:27563642

  17. Power Imbalances, Food Insecurity, and Children's Rights in Canada.

    Science.gov (United States)

    Blay-Palmer, Alison

    2016-01-01

    Increasingly, food is provided through an industrial food system that separates people from the source of their food and results in high rates of food insecurity, particularly for the most vulnerable in society. A lack of food is a symptom of a lack of power in a system that privileges free market principles over social justice and the protection of human rights. In Canada, the high rates of food insecurity among Canadian children is a reflection of their lack of power and the disregard of their human rights, despite the adoption of the United Nations (UN) Convention on the Rights of the Child in 1991 and ratification of the International Covenant on Social, Economic and Cultural Rights in 1976, which established the right to food for all Canadians. Dueling tensions between human rights and market forces underpin this unacceptable state of affairs in Canada. Gaventa's "power cube" that describes different facets of power - including spaces, levels, and forms - is used to help understand the power imbalances that underlie this injustice. The analysis considers the impact of neoliberal free market principles on the realization of human rights, and the negative impacts this can have on health and well-being for the most vulnerable in society. Canadian case studies from both community organizations provide examples of how power can be shifted to achieve more inclusive, rights-based policy and action. Given increased global pressures toward more open trade markets and national austerity measures that hollow out social supports, Canada provides a cautionary tale for countries in the EU and the US, and for overall approaches to protect the most vulnerable in society.

  18. Genetic Diversity Based on Allozyme Alleles of Chinese Cultivated Rice

    Institute of Scientific and Technical Information of China (English)

    TANG Sheng-xiang; WEI Xing-hua; JIANG Yun-zhu; D S Brar; G S Khush

    2007-01-01

    Genetic diversity was analyzed with 6 632 core rice cultivars selected from 60 282 Chinese rice accessions on the basis of 12 allozyme loci, Pgil, Pgi2, Ampl, Amp2, Amp3, Amp4, Sdh1, Adh1, Est1, Est2, Est5 and Est9, by starch gel electrophoresis. Among the materials examined, 52 alleles at 12 polymorphic loci were identified, which occupied 96.3% of 54 alleles found in cultivated germplasm of O.sativa L. The number of alleles per locus ranged from 2 to 7 with an average of 4.33. The gene diversity (He) each locus varied considerably from 0.017 for Amp4 to 0.583 for Est2 with an average gene diversity (Ht) 0.271, and Shannon-Wiener index from 0.055 to 0.946 with an average of 0.468. The degree of polymorphism (DP) was in a range from 0.9 to 46.9% with an average of 21.4%. It was found that the genetic diversity in japonica (Keng) subspecies was lower in terms of allele's number, Ht and S-W index, being 91.8, 66.2 and 75.7% of indica (Hsien) one, respectively. Significant genetic differentiation between indica and japonica rice has been appeared in the loci Pgil, Amp2, Pgi2, and Est2, with higher average coefficient of genetic differentiation (Gst) 0.635, 0.626, 0.322 and 0.282, respectively. Except less allele number per locus (3.33) for modern cultivars, being 76.9% of landraces, the Ht and S-W index showed in similar between the modern cultivars and the landraces detected. In terms of allozyme, the rice cultivars in the Southwest Plateau and Central China have richer genetic diversity. The present study reveals again that Chinese cultivated rice germplasm has rich genetic diversity, showed by the allozyme allele variation.

  19. A common mutation associated with the Duarte galactosemia allele

    Energy Technology Data Exchange (ETDEWEB)

    Elsas, L.J.; Dembure, P.P.; Langley, S.; Paulk, E.M.; Hjelm, L.N.; Fridovich-Keil, J. (Emory Univ. School of Medicine, Atlanta, GA (United States))

    1994-06-01

    The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been cloned and sequenced. A prevalant mutation (Q188R) is known to cause classic galactosemia (G/G). G/G galactosemia has an incidence of 1/38,886 in 1,396,766 Georgia live-born infants, but a more common variant of galactosemia, Duarte, has an unknown incidence. The proposed Duarte biochemical phenotypes of GALT are as follows: D/N, D/D, and D/G, which have [approximately]75%, 50%, and 25% of normal GALT activity, respectively. In addition, the D allele has isoforms of its enzyme that have more acidic pI than normal. Here the authors systematically determine (a) the prevalence of an A-to-G transition at base pair 2744 of exon 10 in the GALT gene, a transition that produces a codon change converting asparagine to aspartic acid at position 314 (N314D), and (b) the association of this mutation with the Duarte biochemical phenotype. The 2744G nucleotide change adds an AvaII (SinI) cut site, which was identified in PCR-amplified DNA. In 111 biochemically unphenotyped controls with no history of galactosemia, 13 N314D alleles were identified (prevalence 5.9%). In a prospective study, 40 D alleles were biochemically phenotyped, and 40 N314D alleles were found. By contrast, in 36 individuals known not to have the Duarte biochemical phenotype, no N314D alleles were found. The authors conclude that the N314D mutation is a common allele that probably causes the Duarte GALT biochemical phenotype and occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9%. 36 refs., 3 figs., 2 tabs.

  20. Impact of autoimmune risk alleles on the immune system

    OpenAIRE

    Ray, John P.; Hacohen, Nir

    2015-01-01

    Genetic analyses of autoimmune diseases have revealed hundreds of disease-associated DNA variants, but the identity and function of the causal variants are understudied and warrant deeper mechanistic studies. Here, we highlight methods for deciphering how alleles that are associated with autoimmune disease alter the human immune system, and suggest strategies for future autoimmune genetic research.

  1. Sustained ventilation: perfusion imbalance during hemodialysis.

    Science.gov (United States)

    Milner, L S; Rothberg, A D; Thomson, P D; Stothart, M

    1983-06-01

    Five children between the ages of 6 and 15 years, who required chronic hemodialysis (HD) for renal failure, were studied to evaluate the central and pulmonary effects of HD on gas exchange. Acetate dialysate was used, and dialysate pO2 and pCO2, arterial pO2 and pCO2, endtidal CO2 and minute ventilation were measured pre-HD and 15, 30, 60, 120 and 240 minutes after commencement of HD. Arterial-alveolar CO2 gradient (aADCO2) was calculated to determine the ventilation: perfusion (V/Q) status. Minute ventilation did not change significantly from the pre-HD value of 8.9 +/- 1.1 l/min (mean +/- SD). The aADCO2 increased significantly from 3.2 +/- 3.7 mmHg to 8.4 +/- 2.4 mmHg at 15 mins (p less than .01) and was still elevated at 120 mins. (9.1 +/- 3.4 mmHg, p less than .02). There was a weak but significant inverse relationship between aADCO2 and arterial pO2 (r -0.42, p less than 0.05). The results suggest that, in these children, dialysed at altitude, dialysis-related hypoxemia appears to be the result of a sustained V/Q mismatch, possibly related to a decrease in pulmonary perfusion. PMID:6413444

  2. Serotonin transporter gene polymorphism (5-HTTLPR) L allele interacts with stress to increase anxiety symptoms in Chinese adolescents: a multiwave longitudinal study

    OpenAIRE

    Ming, Qingsen; Zhang, Yun; Yi, Jinyao; Wang, Xiang; Zhu, Xiongzhao; Yao, Shuqiao

    2015-01-01

    Background Previous studies of the interaction between a functional polymorphism in the serotonin transporter gene-linked promoter region (5-HTTLPR) and stress in anxiety-related phenotypes have produced inconsistent results. The aim of the current study was to examine the effect of the 5-HTTLPR × stress interaction on anxiety symptoms in Chinese adolescents. Methods A total of 651 healthy adolescents [323 females and 328 males; age 14–17 (mean = 16.27, standard deviation = 0.77)] participate...

  3. Imbalance in Groundwater-Surface Water Interactions and its Relationship to the Coastal Zone Hazards

    Science.gov (United States)

    Kontar, Y. A.; Ozorovich, Y. R.; Salokhiddinov, A. T.

    2011-12-01

    We report here some efforts and results in studying the imbalance in groundwater-surface water interactions and processes of groundwater-surface water interactions and groundwater flooding creating hazards in the coastal zones. Hazards, hydrological and geophysical risk analysis related to imbalance in groundwater-surface water interactions and groundwater flooding have been to a large extent under-emphasized for coastal zone applications either due to economical limitations or underestimation of significance of imbalance in groundwater-surface water interactions. This is particularly true for tsunamis creating salt water intrusion to coastal aquifers, even though most tsunami hazard assessments have in the past relied on scenario or deterministic type models, and to increasing mineralization of potable water because of intensive water diversions and also the abundance of highly toxic pollutants (mainly pesticides) in water, air and food, which contribute to the deterioration of the coastal population's health. In the wake of pressing environmental and economic issues, it is of prime importance for the scientific community to shed light onto the great efforts by hydrologists and geophysicists to quantify conceptual uncertainties and to provide quality assurances of potential coastal zone hazard evaluation and prediction under conditions of imbalance in groundwater-surface water interactions. This paper proposes consideration of two case studies which are important and significant for future understanding of a concept of imbalance in groundwater-surface water interactions and development and essential for feasibility studies of hazards in the coastal zone. The territory of the Aral Sea Region in Central Asia is known as an ecological disaster coastal zone. It is now obvious that, in order to provide reasonable living conditions to the coastal zone population, it is first of all necessary to drastically improve the quality of the water dedicated to human needs. Due

  4. The Relationship between Psychological Contract Breach and Organizational Commitment: Exchange Imbalance as a Moderator of the Mediating Role of Violation

    Science.gov (United States)

    Cassar, Vincent; Briner, Rob B.

    2011-01-01

    This study tested the mediating role of violation in the relationship between breach and both affective and continuance commitment and the extent to which this mediating role is moderated by exchange imbalance amongst a sample of 103 sales personnel. Results suggest that violation mediated the relationship between breach and commitment. Also,…

  5. Repetition, Power Imbalance, and Intentionality: Do These Criteria Conform to Teenagers' Perception of Bullying? A Role-Based Analysis

    Science.gov (United States)

    Cuadrado-Gordillo, Isabel

    2012-01-01

    The criteria that researchers use to classify aggressive behaviour as bullying are "repetition", "power imbalance", and "intent to hurt". However, studies that have analyzed adolescents' perceptions of bullying find that most adolescents do not simultaneously consider these three criteria. This paper examines adolescents' perceptions of bullying…

  6. Distribution of Effort-Reward Imbalance in Denmark and Its Prospective Association With a Decline in Self-Rated Health

    NARCIS (Netherlands)

    Rugulies, Reiner; Aust, Birgit; Siegrist, Johannes; von dem Knesebeck, Olaf; Bultmann, Ute; Bjorner, Jakob B.; Burr, Hermann

    2009-01-01

    Objective: To analyze the distribution of effort-reward imbalance (ERI) and to investigate its impact on self-rated health in a representative sample of the Danish workforce. Methods: We studied 4977 employees who responded to a questionnaire in 2000, of which 3470 responded to a follow-up survey in

  7. Spinal pedicle subtraction osteotomy for fixed sagittal imbalance patients

    Science.gov (United States)

    Hyun, Seung-Jae; Kim, Yongjung J; Rhim, Seung-Chul

    2013-01-01

    In addressing spinal sagittal imbalance through a posterior approach, the surgeon now may choose from among a variety of osteotomy techniques. Posterior column osteotomies such as the facetectomy or Ponte or Smith-Petersen osteotomy provide the least correction, but can be used at multiple levels with minimal blood loss and a lower operative risk. Pedicle subtraction osteotomies provide nearly 3 times the per-level correction of Ponte/Smith-Petersen osteotomies; however, they carry increased technical demands, longer operative time, and greater blood loss and associated significant morbidity, including neurological injury. The literature focusing on pedicle subtraction osteotomy for fixed sagittal imbalance patients is reviewed. The long-term overall outcomes, surgical tips to reduce the complications and suggestions for their proper application are also provided. PMID:24340276

  8. Spinal pedicle subtraction osteotomy for fixed sagittal imbalance patients.

    Science.gov (United States)

    Hyun, Seung-Jae; Kim, Yongjung J; Rhim, Seung-Chul

    2013-11-16

    In addressing spinal sagittal imbalance through a posterior approach, the surgeon now may choose from among a variety of osteotomy techniques. Posterior column osteotomies such as the facetectomy or Ponte or Smith-Petersen osteotomy provide the least correction, but can be used at multiple levels with minimal blood loss and a lower operative risk. Pedicle subtraction osteotomies provide nearly 3 times the per-level correction of Ponte/Smith-Petersen osteotomies; however, they carry increased technical demands, longer operative time, and greater blood loss and associated significant morbidity, including neurological injury. The literature focusing on pedicle subtraction osteotomy for fixed sagittal imbalance patients is reviewed. The long-term overall outcomes, surgical tips to reduce the complications and suggestions for their proper application are also provided.

  9. How does Chinese medicine target cytokine imbalance in rheumatoid arthritis?

    Science.gov (United States)

    Liu, Jian; Sun, Yue

    2013-11-01

    Rheumatoid arthritis (RA) manifests as an imbalance between pro- and anti-inflammatory cytokines. Cytokine imbalance is suggested to play critical roles in the development of RA. Currently, various treatments for RA, including biological agents such as antibodies against inflammation mediators, or Chinese herbal medicines, intervene the disease by restoring the balance of cytokines. Chinese medicine (CM) can not only suppress the expression of pro-inflammatory cytokines, but also induce the expression of cytokines with anti-inflammatory and immunomodulatory effects. Thus, Chinese medicine can effectively reduce inflammatory cell infiltration into synovial tissue, pannus formation, and degradation of the extracellular matrix surrounding cartilage cells, thereby reducing subchondral bone damage. This paper reviews the changes of cytokine profiling during development of RA and discuss the mechanisms by which Chinese medicine restores the cytokine balance.

  10. How does Chinese medicine target cytokine imbalance in rheumatoid arthritis?

    Science.gov (United States)

    Liu, Jian; Sun, Yue

    2013-11-01

    Rheumatoid arthritis (RA) manifests as an imbalance between pro- and anti-inflammatory cytokines. Cytokine imbalance is suggested to play critical roles in the development of RA. Currently, various treatments for RA, including biological agents such as antibodies against inflammation mediators, or Chinese herbal medicines, intervene the disease by restoring the balance of cytokines. Chinese medicine (CM) can not only suppress the expression of pro-inflammatory cytokines, but also induce the expression of cytokines with anti-inflammatory and immunomodulatory effects. Thus, Chinese medicine can effectively reduce inflammatory cell infiltration into synovial tissue, pannus formation, and degradation of the extracellular matrix surrounding cartilage cells, thereby reducing subchondral bone damage. This paper reviews the changes of cytokine profiling during development of RA and discuss the mechanisms by which Chinese medicine restores the cytokine balance. PMID:24170633

  11. Risk allelic load in Th2 and Th3 cytokines genes as biomarker of susceptibility to HPV-16 positive cervical cancer: a case control study

    OpenAIRE

    K. Torres-Poveda; A. I. Burguete-García; Bahena-Román, M.; Méndez-Martínez, R.; Zurita-Díaz, M. A.; López-Estrada, G.; Delgado-Romero, K.; Peralta-Zaragoza, O.; Bermúdez-Morales, V. H.; Cantú, D; García-Carrancá, A.; Madrid-Marina, V.

    2016-01-01

    Background Alterations in the host cellular immune response allow persistent infections with High-Risk Human Papillomavirus (HR-HPV) and development of premalignant cervical lesions and cervical cancer (CC). Variations of immunosuppressive cytokine levels in cervix are associated with the natural history of CC. To assess the potential role of genetic host immunity and cytokines serum levels in the risk of developing CC, we conducted a case–control study paired by age. Methods Peripheral blood...

  12. Distribution of forensic marker allelic frequencies in Pernambuco, Northestern Brazil.

    Science.gov (United States)

    Santos, S M; Souza, C A; Rabelo, K C N; Souza, P R E; Moura, R R; Oliveira, T C; Crovella, S

    2015-01-01

    Pernambuco is one of the 27 federal units of Brazil, ranking seventh in the number of inhabitants. We examined the allele frequencies of 13 short tandem repeat loci (CFS1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, vWA, and TPOX), the minimum recommended by the Federal Bureau of Investigation and commonly used in forensic genetics laboratories in Brazil, in a sample of 609 unrelated individuals from all geographic regions of Pernambuco. The allele frequencies ranged from 5 to 47.2%. No significant differences for any loci analyzed were observed compared with other publications in other various regions of Brazil. Most of the markers observed were in Hardy-Weinberg equilibrium. The occurrence of the allele 47.2 (locus FGA) and alleles 35.1 and 39 (locus D21S11), also described in a single study of the Brazilian population, was observed. The other forensic parameters analyzed (matching probability, power of discrimination, polymorphic information content, paternity exclusion, complement factor I, observed heterozygosity, expected heterozygosity) indicated that the studied markers are very informative for human forensic identification purposes in the Pernambuco population. PMID:25966202

  13. Spinal pedicle subtraction osteotomy for fixed sagittal imbalance patients

    OpenAIRE

    Hyun, Seung-Jae; Kim, Yongjung J.; Rhim, Seung-Chul

    2013-01-01

    In addressing spinal sagittal imbalance through a posterior approach, the surgeon now may choose from among a variety of osteotomy techniques. Posterior column osteotomies such as the facetectomy or Ponte or Smith-Petersen osteotomy provide the least correction, but can be used at multiple levels with minimal blood loss and a lower operative risk. Pedicle subtraction osteotomies provide nearly 3 times the per-level correction of Ponte/Smith-Petersen osteotomies; however, they carry increased ...

  14. Muscular imbalance and acute lower extremity muscle injuries in sport

    OpenAIRE

    Croisier, Jean-Louis

    2004-01-01

    Investigating factors associated with muscle strains highlight the multifactorial origin of the injury and the difficulty of identifying isolated or combined factors that caused the injury. Among the numerous causes reported in the literature, only a few have been scientifically associated with injury occurrence, while others have been empirically suggested. Contradictions in articles dealing with muscle strength and imbalance are frequent, and are probably the result of differences in method...

  15. Global Imbalances and the Asian Economies: Implications for Regional Cooperation

    OpenAIRE

    Eichengreen, Barry

    2006-01-01

    This paper asks how Asia should prepare for the disorderly correction of global imbalances. It recommends tightening monetary policy and allowing Asian currencies to appreciate as a way of achieving a better balance between internal and external demand. Leaving the overall level of demand unchanged requires that this monetary tightening be complemented by some relaxation of fiscal policy. But because the scope for fiscal support of domestic demand differs across countries, so too does the opt...

  16. Prediction of Defective Software Modules Using Class Imbalance Learning

    OpenAIRE

    Divya Tomar; Sonali Agarwal

    2016-01-01

    Software defect predictors are useful to maintain the high quality of software products effectively. The early prediction of defective software modules can help the software developers to allocate the available resources to deliver high quality software products. The objective of software defect prediction system is to find as many defective software modules as possible without affecting the overall performance. The learning process of a software defect predictor is difficult due to the imbal...

  17. KIR2DL2/2DL3-E35 alleles are functionally stronger than -Q35 alleles

    Science.gov (United States)

    Bari, Rafijul; Thapa, Rajoo; Bao, Ju; Li, Ying; Zheng, Jie; Leung, Wing

    2016-03-01

    KIR2DL2 and KIR2DL3 segregate as alleles of a single locus in the centromeric motif of the killer cell immunoglobulin-like receptor (KIR) gene family. Although KIR2DL2/L3 polymorphism is known to be associated with many human diseases and is an important factor for donor selection in allogeneic hematopoietic stem cell transplantation, the molecular determinant of functional diversity among various alleles is unclear. In this study we found that KIR2DL2/L3 with glutamic acid at position 35 (E35) are functionally stronger than those with glutamine at the same position (Q35). Cytotoxicity assay showed that NK cells from HLA-C1 positive donors with KIR2DL2/L3-E35 could kill more target cells lacking their ligands than NK cells with the weaker -Q35 alleles, indicating better licensing of KIR2DL2/L3+ NK cells with the stronger alleles. Molecular modeling analysis reveals that the glutamic acid, which is negatively charged, interacts with positively charged histidine located at position 55, thereby stabilizing KIR2DL2/L3 dimer and reducing entropy loss when KIR2DL2/3 binds to HLA-C ligand. The results of this study will be important for future studies of KIR2DL2/L3-associated diseases as well as for donor selection in allogeneic stem cell transplantation.

  18. Grayscale imbalance correction in real-time phase measuring profilometry

    Science.gov (United States)

    Zhu, Lin; Cao, Yiping; He, Dawu; Chen, Cheng

    2016-10-01

    Grayscale imbalance correction in real-time phase measuring profilometry (RPMP) is proposed. In the RPMP, the sufficient information is obtained to reconstruct the 3D shape of the measured object in one over twenty-four of a second. Only one color fringe pattern whose R, G and B channels are coded as three sinusoidal phase-shifting gratings with an equivalent shifting phase of 2π/3 is sent to a flash memory on a specialized digital light projector (SDLP). And then the SDLP projects the fringe patterns in R, G and B channels sequentially onto the measured object in one over seventy-two of a second and meanwhile a monochrome CCD camera captures the corresponding deformed patterns synchronously with the SDLP. Because the deformed patterns from three color channels are captured at different time, the color crosstalk is avoided completely. But due to the monochrome CCD camera's different spectral sensitivity to R, G and B tricolor, there will be grayscale imbalance among these deformed patterns captured at R, G and B channels respectively which may result in increasing measuring errors or even failing to reconstruct the 3D shape. So a new grayscale imbalance correction method based on least square method is developed. The experimental results verify the feasibility of the proposed method.

  19. Disease-Causing Allele-Specific Silencing by RNA Interference

    Directory of Open Access Journals (Sweden)

    Hirohiko Hohjoh

    2013-04-01

    Full Text Available Small double-stranded RNAs (dsRNAs of approximately 21-nucleotides in size, referred to as small interfering RNA (siRNA duplexes, can induce sequence-specific posttranscriptional gene silencing, or RNA interference (RNAi. Since chemically synthesized siRNA duplexes were found to induce RNAi in mammalian cells, RNAi has become a powerful reverse genetic tool for suppressing the expression of a gene of interest in mammals, including human, and its application has been expanding to various fields. Recent studies further suggest that synthetic siRNA duplexes have the potential for specifically inhibiting the expression of an allele of interest without suppressing the expression of other alleles, i.e., siRNA duplexes likely confer allele-specific silencing. Such gene silencing by RNAi is an advanced technique with very promising applications. In this review, I would like to discuss the potential utility of allele-specific silencing by RNAi as a therapeutic method for dominantly inherited diseases, and describe possible improvements in siRNA duplexes for enhancing their efficacy.

  20. Short mucin 6 alleles are associated with H pylori infection

    Institute of Scientific and Technical Information of China (English)

    Thai V Nguyen; Marcel JR Janssen; Paulien Gritters; René HM te Morsche; Joost PH Drenth; Henri van Asten; Robert JF Laheij; Jan BMJ Jansen

    2006-01-01

    AIM: To investigate the relationship between mucin 6(MUC6) VNTR length and H pylori infection.METHODS: Blood samples were collected from patients visiting the Can Tho General Hospital for upper gastrointestinal endoscopy. DNA was isolated from whole blood, the repeated section was cut out using a restriction enzyme (Pvu Ⅱ) and the length of the allele fragments was determined by Southern blotting. H pylori infection was diagnosed by 14C urea breath test. For analysis, MUC6 allele fragment length was dichotomized as being either long (> 13.5 kbp) or short (≤ 13.5 kbp)and patients were classified according to genotype [long-long (LL), long-short (LS), short-short (SS)].RESULTS: 160 patients were studied (mean age 43years, 36% were males, 58% H pylori positive). MUC6Pvu Ⅱ-restricted allele fragment lengths ranged from 7 to 19 kbp. Of the patients with the LL, LS, SS MUC6genotype, 43% (24/56), 57% (25/58) and 76% (11/46)were infected with H pylori, respectively (P = 0.003).CONCLUSION: Short MUC6 alleles are associated with H pylori infection.

  1. Postural imbalance in non-treated adolescent idiopathic scoliosis at different periods of progression

    OpenAIRE

    Beaulieu, Marlene; Toulotte, Claire; Gatto, Laura; Rivard, Charles-H.; Teasdale, Normand; Simoneau, Martin; Allard, Paul

    2008-01-01

    The aim of this study was to test the hypothesis that imbalance in patients with a severe deformity of the spine is associated with an increase in the sensory integration disorder. This paper is a case comparison study. Patients were divided into three groups: able-bodied (n = 53), observation (n = 23), and pre-brace (n = 26) groups. Time domain parameters (sway area, position and displacement) and structural posturographic parameters [mean distance (MD) and mean peak (MP)] were calculated fr...

  2. FOXP3+Treg/Th17 cell imbalance in lung tissues of mice with asthma

    OpenAIRE

    Jiang, Hua; Wu, Xianbo; Zhu, Haiyan; Xie, Yiqiang; Tang, Songqi; Jiang, Yuji

    2015-01-01

    Immunocyte imbalances, particularly of Th1 and Th2 type helper T (Th) cells, have been implicated in the pathogenesis of chronic inflammatory diseases like asthma. Recent studies have suggested an important role for the balance between Th17 cells and FOXP3+ regulatory T cells (Treg). However, whether this balance is important in asthma remains unknown. This study sought to detect the populations of T cell subtypes (Th1, Th2, FOXP3+ Treg, Th17) in lung tissue of a mouse model of asthma to unde...

  3. Apolipoprotein E alleles in Alzheimer`s and Parkinson`s patients

    Energy Technology Data Exchange (ETDEWEB)

    Poduslo, S.E. [Texas Tech Univ., Lubbock, TX (United States); Schwankhaus, J.D. [Department of Veterans Affairs, Lubbock, TX (United States)

    1994-09-01

    A number of investigators have found an association between the apolipoprotein E4 allele and Alzheimer`s disease. The E4 allele appears at a higher frequency in late onset familial Alzheimer`s patients. In our studies we obtained blood samples from early and late onset familial and sporadic Alzheimer`s patients and spouses, as well as from Parkinson`s patients. The patients were diagnosed as probable Alzheimer`s patients after a neurological examination, extensive blood work, and a CAT scan. The diagnosis was made according to the NINCDS-ADRDA criteria. The apolipoprotein E4 polymorphism was detected after PCR amplification of genomic DNA, restriction enzyme digestion with Hhal, and polyacrylamide gel electrophoresis. Ethidium bromide-stained bands at 91 bp were designated as allele 3, at 83 bp as allele 2, and at 72 bp as allele 4. Of the 84 probable Alzheimer`s patients (all of whom were Caucasian), 47 were heterozygous and 13 were homozygous for the E4 allele. There were 26 early onset patients; 13 were heterozygous and 7 homozygous for the E4 allele. The frequencies for the E4 allele for late onset familial patients was 0.45 and for sporadic patients was 0.37. We analyzed 77 spouses with an average age of 71.9 {plus_minus} 7.4 years as controls, and 15 were heterozygous for the E4 allele for an E4 frequency of 0.097. Of the 53 Parkinson`s patients, 11 had the E4 allele for a frequency of 0.113. Thus our findings support the association of the ApoE4 allele with Alzheimer`s disease.

  4. The functional importance of sequence versus expression variability of MHC alleles in parasite resistance.

    Science.gov (United States)

    Axtner, Jan; Sommer, Simone

    2012-12-01

    Understanding selection processes driving the pronounced allelic polymorphism of the major histocompatibility complex (MHC) genes and its functional associations to parasite load have been the focus of many recent wildlife studies. Two main selection scenarios are currently debated which explain the susceptibility or resistance to parasite infections either by the effects of (1) specific MHC alleles which are selected frequency-dependent in space and time or (2) a heterozygote or divergent allele advantage. So far, most studies have focused only on structural variance in co-evolutionary processes although this might not be the only trait subject to natural selection. In the present study, we analysed structural variance stretching from exon1 through exon3 of MHC class II DRB genes as well as genotypic expression variance in relation to the gastrointestinal helminth prevalence and infection intensity in wild yellow-necked mice (Apodemus flavicollis). We found support for the functional importance of specific alleles both on the sequence and expression level. By resampling a previously investigated study population we identified specific MHC alleles affected by temporal shifts in parasite pressure and recorded associated changes in allele frequencies. The allele Apfl-DRB*23 was associated with resistance to infections by the oxyurid nematode Syphacia stroma and at the same time with susceptibility to cestode infection intensity. In line with our expectation, MHC mRNA transcript levels tended to be higher in cestode-infected animals carrying the allele Apfl-DRB*23. However, no support for a heterozygote or divergent allele advantage on the sequence or expression level was detected. The individual amino acid distance of genotypes did not explain individual differences in parasite loads and the genetic distance had no effect on MHC genotype expression. For ongoing studies on the functional importance of expression variance in parasite resistance, allele

  5. Impact of work-life imbalance on job satisfaction and quality of life among hospital nurses in Japan.

    Science.gov (United States)

    Makabe, Sachiko; Takagai, Junko; Asanuma, Yoshihiro; Ohtomo, Kazuo; Kimura, Yutaka

    2015-01-01

    This study investigated the status of work-life imbalance among hospital nurses in Japan and impact of work-life imbalance on job satisfaction and quality of life. A cross-sectional survey of 1,202 nurses (81% response rate) was conducted in three Japanese acute care hospitals. Participants were divided into four groups for actual work-life balance (Group A: 50/50, including other lower working proportion groups [e.g., 40/50]; Group B: 60/40; Group C: 70/30; and Group D: 80/20, including other higher working proportion groups [e.g., 90/10]). We also asked participants about desired work-life balance, and private and work-related perspectives. Satisfactions (job, private life, and work-life balance), quality of life, and stress-coping ability were also measured. All data were compared among the four groups. Most nurses sensed that they had a greater proportion of working life than private life, and had a work-life imbalance. Actual WLB did not fit compared to desired WLB. When the actual working proportion greatly exceeds the private life proportion, nurses' health could be in danger, and they may resign due to lower job satisfaction and QOL. Simultaneous progress by both management and individual nurses is necessary to improve work-life imbalance.

  6. Maximizing allele detection: Effects of analytical threshold and DNA levels on rates of allele and locus drop-out.

    Science.gov (United States)

    Rakay, Christine A; Bregu, Joli; Grgicak, Catherine M

    2012-12-01

    Interpretation of DNA evidence depends upon the ability of the analyst to accurately compare the DNA profile obtained from an item of evidence and the DNA profile of a standard. This interpretation becomes progressively more difficult as the number of 'drop-out' and 'drop-in' events increase. Analytical thresholds (AT) are typically selected to ensure the false detection of noise is minimized. However, there exists a tradeoff between the erroneous labeling of noise as alleles and the false non-detection of alleles (i.e. drop-out). In this study, the effect ATs had on both types of error was characterized. Various ATs were tested, where three relied upon the analysis of baseline signals obtained from 31 negative samples. The fourth AT was determined by utilizing the relationship between RFU signal and DNA input. The other ATs were the commonly employed 50, 150 and 200 RFU thresholds. Receiver Operating Characteristic (ROC) plots showed that although high ATs completely negated the false labeling of noise, DNA analyzed with ATs derived using analysis of the baseline signal exhibited the lowest rates of drop-out and the lowest total error rates. In another experiment, the effect small changes in ATs had on drop-out was examined. This study showed that as the AT increased from ∼10 to 60 RFU, the number of heterozygous loci exhibiting the loss of one allele increased. Between ATs of 60 and 150 RFU, the frequency of allelic drop-out remained constant at 0.27 (±0.02) and began to decrease when ATs of 150 RFU or greater were utilized. In contrast, the frequency of heterozygous loci exhibiting the loss of both alleles consistently increased with AT. In summary, for samples amplified with less than 0.5ng of DNA, ATs derived from baseline analysis of negatives were shown to decrease the frequency of drop-out by a factor of 100 without significantly increasing rates of erroneous noise detection.

  7. Estimations of climate sensitivity based on top-of-atmosphere radiation imbalance

    Directory of Open Access Journals (Sweden)

    B. Lin

    2010-02-01

    Full Text Available Large climate feedback uncertainties limit the accuracy in predicting the response of the Earth's climate to the increase of CO2 concentration within the atmosphere. This study explores a potential to reduce uncertainties in climate sensitivity estimations using energy balance analysis, especially top-of-atmosphere (TOA radiation imbalance. The time-scales studied generally cover from decade to century, that is, middle-range climate sensitivity is considered, which is directly related to the climate issue caused by atmospheric CO2 change. The significant difference between current analysis and previous energy balance models is that the current study targets at the boundary condition problem instead of solving the initial condition problem. Additionally, climate system memory and deep ocean heat transport are considered. The climate feedbacks are obtained based on the constraints of the TOA radiation imbalance and surface temperature measurements of the present climate. In this study, the TOA imbalance value of 0.85 W/m2 is used. Note that this imbalance value has large uncertainties. Based on this value, a positive climate feedback with a feedback coefficient ranging from −1.3 to −1.0 W/m2/K is found. The range of feedback coefficient is determined by climate system memory. The longer the memory, the stronger the positive feedback. The estimated time constant of the climate is large (70~120 years mainly owing to the deep ocean heat transport, implying that the system may be not in an equilibrium state under the external forcing during the industrial era. For the doubled-CO2 climate (or 3.7 W/m2 forcing, the estimated global warming would be 3.1 K if the current estimate of 0.85 W/m2 TOA net radiative heating could be confirmed. With accurate long-term measurements of TOA radiation, the analysis method suggested by this study provides a great potential in the

  8. Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

    Directory of Open Access Journals (Sweden)

    Anna-Kaisa Niemi

    2014-01-01

    Full Text Available The pathophysiology of succinic semialdehyde dehydrogenase (SSADH deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reported in humans. We report on a patient with SSADH deficiency in whom we found low levels of blood reduced glutathione (GSH, and elevations of dicarboxylic acids in urine, suggestive of possible redox imbalance and/or mitochondrial dysfunction. Thus, targeting the oxidative stress axis may be a potential therapeutic approach if our findings are confirmed in other patients.

  9. Dynamic Imbalance Analysis and Stability Control of Galloping Gait for a Passive Quadruped Robot

    OpenAIRE

    Chunlei Wang; Ting Zhang; Xiaohui Wei; Yongjun Long; Shigang Wang

    2015-01-01

    Some imbalance and balance postures of a passive quadruped robot with a simplified mathematical model are studied. Through analyzing the influence of the touchdown angle of the rear leg on the posture of the trunk during the flight phase, the stability criterion is concluded: the closer are the two moments which are the zero time of the pitching angle and the peak time of the center of mass, the better is the stability of the trunk posture during the flight phase. Additionally, the validity o...

  10. The Effects of Individualized Resistance Strength Programs on Knee Muscular Imbalances in Junior Elite Soccer Players.

    Science.gov (United States)

    Śliwowski, Robert; Jadczak, Łukasz; Hejna, Rafał; Wieczorek, Andrzej

    2015-01-01

    The purpose of this study was to investigate the effects of a resistance training program on the muscular strength of soccer players' knees that initially presented unilateral and bilateral differences. For this study, a team of 24 male well-trained junior soccer players was divided into two strength program training groups: a Resistance Training Control Group (RTCG) composed of 10 players that did not have muscular imbalances and a Resistance Training Experimental Group (RTEG) composed of 14 players that had muscular imbalances. All players followed a resistance training program for six weeks, two times per week, during the transition period. The program of individualized strength training consisted of two parts. The first part, which was identical in terms of the choice of training loads, was intended for both training groups and contained two series of exercises including upper and lower body exercises. The second part of the program was intended only for RTEG and consisted of two additional series for the groups of muscles that had identified unilateral and bilateral differences. The applied program showed various directions in the isokinetic profile of changes. In the case of RTCG, the adaptations related mainly to the quadriceps muscle (the peak torque (PT) change for the dominant leg was statistically significant (p changes in RTEG (p changes were noted only for the dominant leg. No statistically significant changes in bilateral differences (BD) were noted in either group. These results indicate that individualized resistance training programs could provide additional benefits to traditional strength training protocols to improve muscular imbalances in post-adolescent soccer players. PMID:26630271

  11. What is the Imbalance of Water in Nature?

    Science.gov (United States)

    Kontar, V. A.

    2011-12-01

    Look at any lake. Water comes into the lake from the atmosphere, from surface and groundwater sources. Water leaves the lake to the atmosphere, surface and underground drains, as well as for consumption by human society, wild plants and animals if they are within the boundaries of the lake's system. If quantity of water coming into the lake is equally of the quantity of water which flow from the lake, so the lake level has not changed and we have a state of equilibration or balance. The bookkeeper's book also has name "balance". But this is just a play on words. If the water is coming into the lake more than the water is coming away from lake, therefore the lake level will increase and we have a state of the imbalance of the increase type. If the water is coming into the lake less than the water is coming away from lake, therefore the lake level will decrease and we have a state of the imbalance of the decrease type. Everyone knows that the lake level rises or falls, for example during the year. Sometimes it is happened some balance. But the state of balance is rare and in of the short duration. The lake is of most the time in the conditions of the imbalance increases or the imbalance decreases type. The balance as a state of equilibrium, in the language of mathematics, is the point of the extremum between the periods of rise and fall. The balance is a special condition, which is existing very rare and a very short period of time. The people sometimes to do the great efforts for maintain the constant level of the lakes. But these facts don't change the situation. On the contrary, the human's struggle for maintain the lake in constant level just shows how difficult and expensive to go against the natural laws of Nature. When water was plentiful, these facts could be ignored. But now when the global water shortage is quickly growing, many previously ignored details are becoming crucial. There are very important to do the correct definitions of the borders and

  12. Evolutionary dynamics of sporophytic self-incompatibility alleles in plants

    DEFF Research Database (Denmark)

    Schierup, M H; Vekemans, X; Christiansen, F B

    1997-01-01

    The stationary frequency distribution and allelic dynamics in finite populations are analyzed through stochastic simulations in three models of single-locus, multi-allelic sporophytic self-incompatibility. The models differ in the dominance relationships among alleles. In one model, alleles act c...

  13. Three allele combinations associated with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Kulakova Olga G

    2006-07-01

    Full Text Available Abstract Background Multiple sclerosis (MS is an immune-mediated disease of polygenic etiology. Dissection of its genetic background is a complex problem, because of the combinatorial possibilities of gene-gene interactions. As genotyping methods improve throughput, approaches that can explore multigene interactions appropriately should lead to improved understanding of MS. Methods 286 unrelated patients with definite MS and 362 unrelated healthy controls of Russian descent were genotyped at polymorphic loci (including SNPs, repeat polymorphisms, and an insertion/deletion of the DRB1, TNF, LT, TGFβ1, CCR5 and CTLA4 genes and TNFa and TNFb microsatellites. Each allele carriership in patients and controls was compared by Fisher's exact test, and disease-associated combinations of alleles in the data set were sought using a Bayesian Markov chain Monte Carlo-based method recently developed by our group. Results We identified two previously unknown MS-associated tri-allelic combinations: -509TGFβ1*C, DRB1*18(3, CTLA4*G and -238TNF*B1,-308TNF*A2, CTLA4*G, which perfectly separate MS cases from controls, at least in the present sample. The previously described DRB1*15(2 allele, the microsatellite TNFa9 allele and the biallelic combination CCR5Δ32, DRB1*04 were also reidentified as MS-associated. Conclusion These results represent an independent validation of MS association with DRB1*15(2 and TNFa9 in Russians and are the first to find the interplay of three loci in conferring susceptibility to MS. They demonstrate the efficacy of our approach for the identification of complex-disease-associated combinations of alleles.

  14. Impact of Imbalance Usage of Social Networking Sites on Families

    OpenAIRE

    Anwar, Anika; Ahmed, Ishrat; Hashem, Tanzima; Mahmud, Jalal

    2015-01-01

    With the proliferation of social networking sites (SNSs) such as Facebook and Google+, investigating the impact of SNSs on our lives has become an important research area in recent years. Though SNS usage plays a key role in connecting people with friends and families from distant places, SNSs also bring concern for families. We focus on imbalance SNS usage, i.e., an individual remains busy in using SNSs when her family member is expecting to spend time with her. More specifically, we investi...

  15. Glutamate and GABA imbalance following traumatic brain injury.

    Science.gov (United States)

    Guerriero, Réjean M; Giza, Christopher C; Rotenberg, Alexander

    2015-05-01

    Traumatic brain injury (TBI) leads to multiple short- and long-term changes in neuronal circuits that ultimately conclude with an imbalance of cortical excitation and inhibition. Changes in neurotransmitter concentrations, receptor populations, and specific cell survival are important contributing factors. Many of these changes occur gradually, which may explain the vulnerability of the brain to multiple mild impacts, alterations in neuroplasticity, and delays in the presentation of posttraumatic epilepsy. In this review, we provide an overview of normal glutamate and GABA homeostasis and describe acute, subacute, and chronic changes that follow injury. We conclude by highlighting opportunities for therapeutic interventions in this paradigm. PMID:25796572

  16. Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi.

    Directory of Open Access Journals (Sweden)

    Yusuke Ohnishi

    Full Text Available Allele-specific gene silencing by RNA interference (RNAi is therapeutically useful for specifically inhibiting the expression of disease-associated alleles without suppressing the expression of corresponding wild-type alleles. To realize such allele-specific RNAi (ASP-RNAi, the design and assessment of small interfering RNA (siRNA duplexes conferring ASP-RNAi is vital; however, it is also difficult. In a previous study, we developed an assay system to assess ASP-RNAi with mutant and wild-type reporter alleles encoding the Photinus and Renilla luciferase genes. In line with experiments using the system, we realized that it is necessary and important to enhance allele discrimination between mutant and corresponding wild-type alleles. Here, we describe the improvement of ASP-RNAi against mutant alleles carrying single nucleotide variations by introducing base substitutions into siRNA sequences, where original variations are present in the central position. Artificially mismatched siRNAs or short-hairpin RNAs (shRNAs against mutant alleles of the human Prion Protein (PRNP gene, which appear to be associated with susceptibility to prion diseases, were examined using this assessment system. The data indicates that introduction of a one-base mismatch into the siRNAs and shRNAs was able to enhance discrimination between the mutant and wild-type alleles. Interestingly, the introduced mismatches that conferred marked improvement in ASP-RNAi, appeared to be largely present in the guide siRNA elements, corresponding to the 'seed region' of microRNAs. Due to the essential role of the 'seed region' of microRNAs in their association with target RNAs, it is conceivable that disruption of the base-pairing interactions in the corresponding seed region, as well as the central position (involved in cleavage of target RNAs, of guide siRNA elements could influence allele discrimination. In addition, we also suggest that nucleotide mismatches at the 3'-ends of sense

  17. Framework for interpretation of trypsin-antitrypsin imbalance and genetic heterogeneity in pancreatitis

    Directory of Open Access Journals (Sweden)

    Kun Lin

    2015-01-01

    Full Text Available Early intracellular premature trypsinogen activation was interpreted as the key initiator of pancreatitis. When the balance in the homeostasis of trypsin and antitrypsin system is disequilibrated, elevated aggressive enzymes directly attack the pancreatic tissue, which leads to pancreatic destruction and inflammation. However, trypsin alone is not enough to cause complications in pancreatitis, which may play a crucial role in modulating signaling events in the initial phase of the disease. NFκB activation is the major inflammatory pathway involved in the occurrence and development of pancreatitis and it can be induced by intrapancreatic activation of trypsinogen. Synthesis of trypsinogen occurs in endoplasmic reticulum (ER, and ER stress is an important early acinar cell event. Components of ER stress response are known to be able to trigger cell death as well as NFκB signaling cascade. The strongest evidence supporting the trypsin-centered theory is that gene mutations, which lead to the generation of more trypsin, or reduce the activity of trypsin inhibitors or trypsin degradation, are associated with pancreatitis. Thus, trypsin–antitrypsin imbalance may be the first step leading to pancreatic autodigestion and inducing other pathways. Continued experimental studies are necessary to determine the specific relationships between trypsin–antitrypsin imbalance and genetic heterogeneity in pancreatitis. In this article, we review the latest advances that contributed to the understanding of the basic mechanisms behind the occurrence and development of pancreatitis with a focus on the interpretation of trypsin–antitrypsin imbalance and their relationships with other inflammation pathways. We additionally highlight genetic predispositions to pancreatitis and possible mechanisms associated with them.

  18. Factors Influencing Oxidative Imbalance in Pulmonary Fibrosis: An Immunohistochemical Study

    Directory of Open Access Journals (Sweden)

    Simona Inghilleri

    2011-01-01

    Full Text Available Background. Idiopathic Pulmonary Fibrosis (IPF is a fatal lung disease of unknown etiology characterized by interstitial fibrosis determining irreversible distortion of pulmonary architecture. Reactive oxygen species (ROS and markers of oxidative stress play a pivotal role in human IPF pathology, possibly through induction of epithelial-mesenchymal transition (EMT. Methods. We investigated by immunohistochemistry, in UIP and COP tissue samples, the expression of most relevant markers of the molecular interplay involving RAGE, oxidant/antioxidant balance regulation, tissue nitrosylation, and mediators of EMT. Results. In both UIP and COP, the degree of RAGE expression was similarly high, while SODs and i-NOS, diffusely present in COP endoalveolar plugs, were almost absent in UIP fibroblast foci. A lower degree of tissue nitrosilation was observed in UIP than in COP. Conclusions. Fibroblast lesions of UIP and of COP share a similar degree of activation of RAGE, while antioxidant enzyme expression markedly reduced in UIP.

  19. 法医DNA标准物质STR位点等位基因分型定值研究%Certified value study for alleles on STR loci of forensic DNA reference materials

    Institute of Scientific and Technical Information of China (English)

    赵兴春; 孙敬; 印佳; 王燕; 姜伯玮; 高运华; 叶健

    2012-01-01

    为探讨法医DNA标准物质STR位点等位基因分型的定值和溯源,利用有机法提取法医DNA标准物质备选所用细胞基因组DNA,以其为模板进行STR复合扩增,制备获得等位基因分型片段并测序分析,成功获得法医DNA标准物质备选所用细胞STR位点等位基因分型的定值.对STR位点等位基因分型进行定值研究可以作为法医DNA标准物质溯源研究的有效途径之一.%In order to develop the certified value and traceability for the alleles on STR loci of forensic DNA reference materials, the genomic DNA of the cells was extracted and amplified for preparing the forensic DNA reference materials. Then the allelic DNA was prepared, sequenced and valuated. Finally the value for the alleles on STR loci of the cells was certified. The certified value for the alleles on STR loci can work as an effective approach for the traceability of forensic DNA reference materials.

  20. Allele-Specific DNA Methylation Detection by Pyrosequencing®

    DEFF Research Database (Denmark)

    Sommer Kristensen, Lasse; Johansen, Jens Vilstrup; Grønbæk, Kirsten

    2015-01-01

    DNA methylation is an epigenetic modification that plays important roles in healthy as well as diseased cells, by influencing the transcription of genes. In spite the fact that human somatic cells are diploid, most of the currently available methods for the study of DNA methylation do not provide......-effective protocol for allele-specific DNA methylation detection based on Pyrosequencing(®) of methylation-specific PCR (MSP) products including a single nucleotide polymorphism (SNP) within the amplicon....

  1. TEMPOL increases NAD+ and improves redox imbalance in obese mice

    Directory of Open Access Journals (Sweden)

    Mayumi Yamato

    2016-08-01

    Full Text Available Continuous energy conversion is controlled by reduction–oxidation (redox processes. NAD+ and NADH represent an important redox couple in energy metabolism. 4-Hydroxy-2,2,6,6-tetramethylpiperidine-N-oxyl (TEMPOL is a redox-cycling nitroxide that promotes the scavenging of several reactive oxygen species (ROS and is reduced to hydroxylamine by NADH. TEMPOL is also involved in NAD+ production in the ascorbic acid–glutathione redox cycle. We utilized the chemical properties of TEMPOL to investigate the effects of antioxidants and NAD+/NADH modulators on the metabolic imbalance in obese mice. Increases in the NAD+/NADH ratio by TEMPOL ameliorated the metabolic imbalance when combined with a dietary intervention, changing from a high-fat diet to a normal diet. Plasma levels of the superoxide marker dihydroethidium were higher in mice receiving the dietary intervention compared with a control diet, but were normalized with TEMPOL consumption. These findings provide novel insights into redox regulation in obesity.

  2. TEMPOL increases NAD(+) and improves redox imbalance in obese mice.

    Science.gov (United States)

    Yamato, Mayumi; Kawano, Kimika; Yamanaka, Yuki; Saiga, Misako; Yamada, Ken-Ichi

    2016-08-01

    Continuous energy conversion is controlled by reduction-oxidation (redox) processes. NAD(+) and NADH represent an important redox couple in energy metabolism. 4-Hydroxy-2,2,6,6-tetramethylpiperidine-N-oxyl (TEMPOL) is a redox-cycling nitroxide that promotes the scavenging of several reactive oxygen species (ROS) and is reduced to hydroxylamine by NADH. TEMPOL is also involved in NAD(+) production in the ascorbic acid-glutathione redox cycle. We utilized the chemical properties of TEMPOL to investigate the effects of antioxidants and NAD(+)/NADH modulators on the metabolic imbalance in obese mice. Increases in the NAD(+)/NADH ratio by TEMPOL ameliorated the metabolic imbalance when combined with a dietary intervention, changing from a high-fat diet to a normal diet. Plasma levels of the superoxide marker dihydroethidium were higher in mice receiving the dietary intervention compared with a control diet, but were normalized with TEMPOL consumption. These findings provide novel insights into redox regulation in obesity. PMID:26942863

  3. Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

    Science.gov (United States)

    Ferreira, Susana Isabel; Pires, Luís Miguel; Ferrão, José; Sá, Joaquim; Serra, Armando; Carreira, Isabel Marques

    2013-09-15

    Fragile X syndrome is caused by the expansion of an unstable CGG repeat in the 5'UTR of FMR1 gene. The occurrence of mosaicism is not uncommon, especially in male patients, whereas in females it is not so often reported. Here we report a female foetus that was subject to prenatal diagnosis, because of her mother being a premutation carrier. The foetus was identified as being a mosaic for an intermediate allele and a full mutation of FMR1 gene, in the presence of a normal allele. The mosaic status was confirmed in three different tissues of the foetus--amniotic fluid, skin biopsy and blood--the last two obtained after pregnancy termination. Karyotype analysis and X-chromosome STR markers analysis do not support the mosaicism as inheritance of both maternal alleles. Oligonucleotide array-CGH excluded an imbalance that could contain the primer binding site with a different repeat size. The obtained results give compelling evidence for a postzygotic expansion mechanism where the foetus mosaic pattern originated from expansion of the mother's premutation into a full mutation and consequent regression to an intermediate allele in a proportion of cells. These events occurred in early embryogenesis before the commitment of cells into the different tissues, as the three tested tissues of the foetus have the same mosaic pattern. The couple has a son with Fragile X mental retardation syndrome and choose to terminate this pregnancy after genetic counselling.

  4. Quantification of Allele Dosage in tetraploid Roses

    NARCIS (Netherlands)

    Vukosavljev, M.; Guardo, Di M.; Weg, van de W.E.; Arens, P.; Smulders, M.J.M.

    2012-01-01

    Many important crops (wheat, potato, strawberry, rose, etc.) are polyploid. This complicates genetic analyses, as the same locus can be present on multiple homologous or homoeologous chromosomes. SSR markers are suitable for mapping in segregating populations of polyploids as they are multi-allelic,

  5. Diversity of Lactase Persistence Alleles in Ethiopia

    DEFF Research Database (Denmark)

    Jones, BL; Raga, TO; Liebert, Anke;

    2013-01-01

    The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (−13910∗T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene ...

  6. Diversity of Lactase Persistence Alleles in Ethiopia

    DEFF Research Database (Denmark)

    Jones, BL; Raga, TO; Liebert, Anke;

    2013-01-01

    The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (−13910∗T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene...

  7. Disagreement in genotyping results of drug resistance alleles of the Plasmodium falciparum dihydrofolate reductase (Pfdhfr) gene by allele-specific PCR (ASPCR) assays and Sanger sequencing.

    Science.gov (United States)

    Sharma, Divya; Lather, Manila; Dykes, Cherry L; Dang, Amita S; Adak, Tridibes; Singh, Om P

    2016-01-01

    The rapid spread of antimalarial drug resistance in Plasmodium falciparum over the past few decades has necessitated intensive monitoring of such resistance for an effective malaria control strategy. P. falciparum dihydropteroate synthase (Pfdhps) and P. falciparum dihydrofolate reductase (Pfdhfr) genes act as molecular markers for resistance against the antimalarial drugs sulphadoxine and pyrimethamine, respectively. Resistance to pyrimethamine which is used as a partner drug in artemisinin combination therapy (ACT) is associated with several mutations in the Pfdhfr gene, namely A16V, N51I, C59R, S108N/T and I164L. Therefore, routine monitoring of Pfdhfr-drug-resistant alleles in a population may help in effective drug resistance management. Allele-specific PCR (ASPCR) is one of the commonly used methods for molecular genotyping of these alleles. In this study, we genotyped 55 samples of P. falciparum for allele discrimination at four codons of Pfdhfr (N51, C59, S108 and I164) by ASPCR using published methods and by Sanger's DNA sequencing method. We found that the ASPCR identified a significantly higher number of mutant alleles as compared to the DNA sequencing method. Such discrepancies arise due to the non-specificity of some of the allele-specific primer sets and due to the lack of sensitivity of Sanger's DNA sequencing method to detect minor alleles present in multiple clone infections. This study reveals the need of a highly specific and sensitive method for genotyping and detecting minor drug-resistant alleles present in multiple clonal infections.

  8. Estimating the probability of allelic drop-out of STR alleles in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Eriksen, Poul Svante; Mogensen, Helle Smidt;

    2009-01-01

    In crime cases with available DNA evidence, the amount of DNA is often sparse due to the setting of the crime. In such cases, allelic drop-out of one or more true alleles in STR typing is possible. We present a statistical model for estimating the per locus and overall probability of allelic drop......-out using the results of all STR loci in the case sample as reference. The methodology of logistic regression is appropriate for this analysis, and we demonstrate how to incorporate this in a forensic genetic framework....

  9. Imbalance between apoptosis and cell proliferation during early stages of mammary gland carcinogenesis in ACI rats

    Energy Technology Data Exchange (ETDEWEB)

    Kutanzi, Kristy R.; Koturbash, Igor [Department of Biological Sciences, University of Lethbridge, Lethbridge, AB, T1K3M4 (Canada); Bronson, Roderick T. [Department of Pathology, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115 (United States); Pogribny, Igor P., E-mail: igor.pogribny@fda.hhs.gov [Division of Biochemical Toxicology, National Center for Toxicological Research, Jefferson, AR 72079 (United States); Kovalchuk, Olga, E-mail: olga.kovalchuk@uleth.ca [Department of Biological Sciences, University of Lethbridge, Lethbridge, AB, T1K3M4 (Canada)

    2010-12-10

    Estrogen and ionizing radiation are well-documented human breast carcinogens, yet the exact mechanisms of their deleterious effects on mammary gland remain to be discerned. Here we analyze the balance between cellular proliferation and apoptosis in the mammary glands of rats exposed to estrogen and X-ray radiation and the combined action of these carcinogenic agents. For the first time, we show that combined exposure to estrogen and radiation has a synergistic effect on cell proliferation in the mammary glands of ACI rats, as evidenced by a substantially greater magnitude of cell proliferation, especially after 12 and 18 weeks of treatment, when compared to mammary glands of rats exposed to estrogen or radiation alone. We also demonstrate that an imbalance between cell proliferation and apoptosis, rather than enhanced cell proliferation or apoptosis suppression alone, may be a driving force for carcinogenesis. Our studies further suggest that compromised functional activity of p53 may be one of the mechanisms responsible for the proliferation/apoptosis imbalance. In sum, the results of our study indicate that evaluation of the extent of cell proliferation and apoptosis before the onset of preneoplastic lesions may be a potential biomarker of breast cancer risk after exposure to breast carcinogens.

  10. The short-term effects of effort-reward imbalance : Daily and within-day psychological and physiological measurements

    OpenAIRE

    Hanson, E.K.S.

    2002-01-01

    In the present thesis, the short-term effects of Effort-Reward Imbalance (ERI) are studied by measuring indices of vagal control, hypothalamo-pituitary-adrenocortical (HPAC) activity and affect. The studies provide an illustration of recent developments in the field. Primarily, Ecological Momentary Assessment (EMA) provides information on psychological measurements throughout the day, and reveals information not accessible using traditional single occasion assessments of perceived work relate...

  11. New Adaptive Method for IQ Imbalance Compensation of Quadrature Modulators in Predistortion Systems

    Directory of Open Access Journals (Sweden)

    Hassan Zareian

    2009-01-01

    Full Text Available Imperfections in quadrature modulators (QMs, such as inphase and quadrature (IQ imbalance, can severely impact the performance of power amplifier (PA linearization systems, in particular in adaptive digital predistorters (PDs. In this paper, we first analyze the effect of IQ imbalance on the performance of a memory orthogonal polynomials predistorter (MOP PD, and then we propose a new adaptive algorithm to estimate and compensate the unknown IQ imbalance in QM. Unlike previous compensation techniques, the proposed method was capable of online IQ imbalance compensation with faster convergence, and no special calibration or training signals were needed. The effectiveness of the proposed IQ imbalance compensator was validated by simulations. The results clearly show the performance of the MOP PD to be enhanced significantly by adding the proposed IQ imbalance compensator.

  12. New Adaptive Method for IQ Imbalance Compensation of Quadrature Modulators in Predistortion Systems

    Science.gov (United States)

    Zareian, Hassan; Vakili, Vahid Tabataba

    2009-12-01

    Imperfections in quadrature modulators (QMs), such as inphase and quadrature (IQ) imbalance, can severely impact the performance of power amplifier (PA) linearization systems, in particular in adaptive digital predistorters (PDs). In this paper, we first analyze the effect of IQ imbalance on the performance of a memory orthogonal polynomials predistorter (MOP PD), and then we propose a new adaptive algorithm to estimate and compensate the unknown IQ imbalance in QM. Unlike previous compensation techniques, the proposed method was capable of online IQ imbalance compensation with faster convergence, and no special calibration or training signals were needed. The effectiveness of the proposed IQ imbalance compensator was validated by simulations. The results clearly show the performance of the MOP PD to be enhanced significantly by adding the proposed IQ imbalance compensator.

  13. Dual-hop amplify-and-forward cooperative relaying in the presence of Tx and Rx in-phase and quadrature-phase imbalance

    KAUST Repository

    Qi, Jian

    2014-02-13

    In this study, dual-hop channel state information-assisted amplify-and-forward (AF) cooperative systems in the presence of in-phase and quadrature-phase (I/Q) imbalance, which refers to the mismatch between components in the I and Q branches, are investigated. First, the authors analyse the performance of the considered AF cooperative protocol without compensation for the I/Q imbalance as the benchmark. Then, a compensation algorithm for the I/Q imbalance is proposed, which makes use of the received signals at the destination, from the source and the relay nodes, together with their conjugations to detect the transmitted signal. Moreover, the authors study the considered AF cooperative system implemented with the opportunistic relay selection and the proposed compensation mechanism for the I/Q imbalance. The performance of the AF cooperative system under study is evaluated in terms of average symbol error probability, which is derived by considering transmission in a Rayleigh fading environment. Numerical results are provided and show that the proposed compensation algorithm can efficiently mitigate the effect of the I/Q imbalance. On the other hand, it is observed that the AF cooperative system with opportunistic relay selection acquires a performance gain beyond that without relay selection.

  14. Allelic discrimination in naturalized ovine from Pantanal Sul-Matogrossense by means of microsatellite markers

    Directory of Open Access Journals (Sweden)

    Crispim Bruno do Amaral

    2012-08-01

    Full Text Available The molecular biology techniques that are used in allelic discrimination for individual and sheep breeds characterization are important tools in breeding programs and conservation of genetic resources. The use of microsatellite markers allows allelic differentiation, which in turn allows us to infer the genetic variability of sample populations. The study aimed to test the sensitivity and efficiency of fluorescent capillary electrophoresis, using microsatellite primers, for allelic discrimination of the Crioulo breed from Pantanal sul-matogrossense, as well as verify the possibility of using the products of sequencing in genetic variability analysis. For this test, were used blood samples from Pantaneira breed sheep. The allelic discrimination of eight microsatellites was determined by capillary electrophoresis in automatic sequencer and the results analyses were performed on the programs CERVUS and Dendro-UPGMA. The results indicated the possibility of using this technique for the individual genotyping of all loci tested in electrophoretic analysis and its potential to allelic discrimination even in case of difference between two pairs of bases between the alleles. The resulting dendrogram based on the distance matrix by the UPGMA assembly method, indicated medium similarity coefficient of 0.72 in the group of animals. It was concluded that there is the viability and efficiency of the microsatellite molecular markers technique using capillary electrophoresis for allelic discrimination and the utility of results for studies of genetic variability, paternity diagnosis and characterization of the Crioulo sheep herd from Pantanal sul-matogrossense.

  15. Gene identification and allele-specific marker development for two allelic low phytic acid mutations in rice (Oryza sativa L.)

    International Nuclear Information System (INIS)

    Phytic acid (PA, myo-inositol 1,2,3,4,5,6-hexakisphosphate) is an important anti-nutritional component in cereal and legume grains. PA forms of phosphorus (P) and its salts with micronutrient cations, such as iron and zinc, are indigestible in humans and non-ruminant animals, and hence could affect food/feed nutritional value and cause P pollution of ground water from animal waste. We previously developed a set of low phytic acid (LPA) rice mutants with the aim to increase their nutritional quality. Among them, one line, i.e., Os-lpa -XQZ-1 (hereafter lpa 1-2), was identified to have a mutation allelic to the KBNT lpa 1-1 mutation (hereafter lpa 1-1), which was already delimited to a 47-kb region on chromosome 2. In this study, we searched the candidate gene for these two allelic LPA mutations using T-DNA insertion mutants, mutation detection by CEL I facilitated mismatch cleavage, and gene sequencing. The TIGR locus LOCOs02g57400 was revealed as the candidate gene hosting these two mutations. Sequence analysis showed that the lpa 1-1 is a single base pair substitution mutation, while lpa 1-2 involves a 1,475-bp fragment deletion. A CAPS marker (LPA1CAPS) was developed for distinguishing the lpa 1-1 allele from lpa 1-2 and WT alleles, and InDel marker (LPA1InDel) was developed for differentiating the lpa 1-2 allele from lpa 1-1 and WT ones. Analysis of two populations derived from the two mutants with wild-type varieties confirmed the complete co-segregation of these two markers and LPA phenotype. The LOCOs02g57400 is predicted to encode, through alternative splicing, four possible proteins that are homologous to the 2-phosphoglycerate kinase reported in hyperthermophilic and thermophilic bacteria. The identification of the LPA gene and development of allele-specific markers are of importance not only for breeding LPA varieties, but also for advancing genetics and genomics of phytic acid biosynthesis in rice and other plant species. (author)

  16. Growth imbalance and government responsibility: From the perspective of social spending

    OpenAIRE

    Zhang, Xiaojing; WANG Hongju; Chang, Xin

    2007-01-01

    There exists a kind of growth imbalance in China's current development process, which is essentially characterized by the imbalance between the nation's wealth and the people's welfare. This paper points out that growth imbalance results mostly from insufficient government social spending on people's welfare. Consequently, the government should shoulder the basic responsibility for the provision of education, health and social security, quicken the transformation of government expenditure str...

  17. Effects of chiral imbalance and magnetic field on pion superfluidity and color superconductivity

    OpenAIRE

    Cao, Gaoqing; Zhuang, Pengfei

    2015-01-01

    The effects of chiral imbalance and external magnetic field on pion superfluidity and color superconductivity are investigated in extended Nambu--Jona-Lasinio models. We take Schwinger approach to treat the interaction between charged pion condensate and magnetic field at finite isospin density and include simultaneously the chiral imbalance and magnetic field at finite baryon density. For the superfluidity, the chiral imbalance and magnetic field lead to catalysis and inverse catalysis effec...

  18. Major histocompatibility complex class I chain related (MIC) A gene, TNFa microsatellite alleles and TNFB alleles in juvenile idiopathic arthritis patients from Latvia.

    Science.gov (United States)

    Nikitina Zake, Liene; Cimdina, Ija; Rumba, Ingrida; Dabadghao, Preethi; Sanjeevi, Carani B

    2002-05-01

    In order to analyze involvement of major histocompatibility complex class I chain-related gene A (MICA) and tumor necrosis factor a (TNFa) microsatellite polymorphisms as well as TNFB gene in juvenile idiopathic arthritis (JIA), we studied 128 patients divided into groups according to clinical features [monoarthritis (n = 14), oligoarthritis (n = 58), polyarthritis (n = 50), and systemic (n = 6)], and 114 age- and sex-matched healthy controls from Latvia. DNA samples were amplified with specific primers and used for genotyping of MICA and TNFa microsatellite. Typing for a biallelic NcoI polymerase chain reaction RFLP polymorphism located at the first intron of TNFB gene was done as follows: restriction digests generated fragments of 555bp and 185bp for TNFB*1 allele, and 740bp for TNFB*2 allele. The results were compared between cases and controls. We found significant increase of MICA allele A4 (p = 0.009; odds ratio [OR] = 2.3) and allele TNFa2 (p = 0.0001; OR = 4.4) in patients compared with controls. The frequency of allele TNFa9 was significantly decreased (p = 0.0001; OR = 0.1) in patients with JIA. No significant differences of TNFB allele frequency were found. Our data suggest that MICA and TNFa microsatellite polymorphisms may be used as markers for determination of susceptibility and protection from JIA.

  19. Trade integration and trade imbalances in the European Union: a network perspective.

    Directory of Open Access Journals (Sweden)

    Gautier M Krings

    Full Text Available We study the ever more integrated and ever more unbalanced trade relationships between European countries. To better capture the complexity of economic networks, we propose two global measures that assess the trade integration and the trade imbalances of the European countries. These measures are the network (or indirect counterparts to traditional (or direct measures such as the trade-to-GDP (Gross Domestic Product and trade deficit-to-GDP ratios. Our indirect tools account for the European inter-country trade structure and follow (i a decomposition of the global trade flow into elementary flows that highlight the long-range dependencies between exporting and importing economies and (ii the commute-time distance for trade integration, which measures the impact of a perturbation in the economy of a country on another country, possibly through intermediate partners by domino effect. Our application addresses the impact of the launch of the Euro. We find that the indirect imbalance measures better identify the countries ultimately bearing deficits and surpluses, by neutralizing the impact of trade transit countries, such as the Netherlands. Among others, we find that ultimate surpluses of Germany are quite concentrated in only three partners. We also show that for some countries, the direct and indirect measures of trade integration diverge, thereby revealing that these countries (e.g. Greece and Portugal trade to a smaller extent with countries considered as central in the European Union network.

  20. Obesity does not Lead to Imbalance Between Myocardial Phospholamban Phosphorylation and Dephosphorylation

    Directory of Open Access Journals (Sweden)

    Paula Paccielli Freire

    2014-07-01

    Full Text Available Background: The activation of the beta-adrenergic system promotes G protein stimulation that, via cyclic adenosine monophosphate (cAMP, alters the structure of protein kinase A (PKA and leads to phospholamban (PLB phosphorylation. This protein participates in the system that controls intracellular calcium in muscle cells, and it is the primary regulator of sarcoplasmic reticulum calcium pump activity. In obesity, the beta-adrenergic system is activated by the influence of increased leptin, therefore, resulting in higher myocardial phospholamban phosphorylation via cAMP-PKA. Objective: To investigate the involvement of proteins which regulate the degree of PLB phosphorylation due to beta-adrenergic activation in obesity. In the present study, we hypothesized that there is an imbalance between phospholamban phosphorylation and dephosphorylation, with prevalence of protein phosphorylation. Methods: Male Wistar rats were randomly distributed into two groups: control (n = 14, fed with normocaloric diet; and obese (n = 13, fed with a cycle of four unsaturated high-fat diets. Obesity was determined by the adiposity index, and protein expressions of phosphatase 1 (PP-1, PKA, PLB, phosphorylated phospholamban at serine16 (PPLB-Ser16 were assessed by Western blot. Results: Obesity caused glucose intolerance, hyperinsulinemia, hypertriglyceridemia, hyperleptinemia and did not alter the protein expression of PKA, PP-1, PLB, PPLB-Ser16. Conclusion: Obesity does not promote an imbalance between myocardial PLB phosphorylation and dephosphorylation via beta-adrenergic system.

  1. Obesity does not Lead to Imbalance Between Myocardial Phospholamban Phosphorylation and Dephosphorylation

    Energy Technology Data Exchange (ETDEWEB)

    Freire, Paula Paccielli, E-mail: freirepp@hotmail.com; Alves, Carlos Augusto Barnabe; Deus, Adriana Fernandes de [Departamento de Clínica Médica - Faculdade de Medicina de Botucatu - Universidade Estadual Paulista, Botucatu, SP (Brazil); Leopoldo, Ana Paula Lima; Leopoldo, André Soares [Centro de Educação Física e Desportos - Universidade Federal do Espírito Santo, Vitória, ES (Brazil); Silva, Danielle Cristina Tomaz da; Tomasi, Loreta Casquel de; Campos, Dijon Henrique Salomé; Cicogna, Antonio Carlos [Departamento de Clínica Médica - Faculdade de Medicina de Botucatu - Universidade Estadual Paulista, Botucatu, SP (Brazil)

    2014-07-15

    The activation of the beta-adrenergic system promotes G protein stimulation that, via cyclic adenosine monophosphate (cAMP), alters the structure of protein kinase A (PKA) and leads to phospholamban (PLB) phosphorylation. This protein participates in the system that controls intracellular calcium in muscle cells, and it is the primary regulator of sarcoplasmic reticulum calcium pump activity. In obesity, the beta-adrenergic system is activated by the influence of increased leptin, therefore, resulting in higher myocardial phospholamban phosphorylation via cAMP-PKA. To investigate the involvement of proteins which regulate the degree of PLB phosphorylation due to beta-adrenergic activation in obesity. In the present study, we hypothesized that there is an imbalance between phospholamban phosphorylation and dephosphorylation, with prevalence of protein phosphorylation. Male Wistar rats were randomly distributed into two groups: control (n = 14), fed with normocaloric diet; and obese (n = 13), fed with a cycle of four unsaturated high-fat diets. Obesity was determined by the adiposity index, and protein expressions of phosphatase 1 (PP-1), PKA, PLB, phosphorylated phospholamban at serine16 (PPLB-Ser16) were assessed by Western blot. Obesity caused glucose intolerance, hyperinsulinemia, hypertriglyceridemia, hyperleptinemia and did not alter the protein expression of PKA, PP-1, PLB, PPLB-Ser16. Obesity does not promote an imbalance between myocardial PLB phosphorylation and dephosphorylation via beta-adrenergic system.

  2. Altitude acclimatization improves submaximal cognitive performance in mice and involves an imbalance of the cholinergic system.

    Science.gov (United States)

    Guerra-Narbona, R; Delgado-García, J M; López-Ramos, J C

    2013-06-15

    The aim of this work was to reveal a hypothetical improvement of cognitive abilities in animals acclimatized to altitude and performing under ground level conditions, when looking at submaximal performance, once seen that it was not possible when looking at maximal scores. We modified contrasted cognitive tasks (object recognition, operant conditioning, eight-arm radial maze, and classical conditioning of the eyeblink reflex), increasing their complexity in an attempt to find performance differences in acclimatized animals vs. untrained controls. In addition, we studied, through immunohistochemical quantification, the expression of choline acetyltransferase and acetyl cholinesterase, enzymes involved in the synthesis and degradation of acetylcholine, in the septal area, piriform and visual cortexes, and the hippocampal CA1 area of animals submitted to acute hypobaric hypoxia, or acclimatized to this simulated altitude, to find a relationship between the cholinergic system and a cognitive improvement due to altitude acclimatization. Results showed subtle improvements of the cognitive capabilities of acclimatized animals in all of the tasks when performed under ground-level conditions (although not before 24 h), in the three tasks used to test explicit memory (object recognition, operant conditioning in the Skinner box, and eight-arm radial maze) and (from the first conditioning session) in the classical conditioning task used to evaluate implicit memory. An imbalance of choline acetyltransferase/acetyl cholinesterase expression was found in acclimatized animals, mainly 24 h after the acclimatization period. In conclusion, altitude acclimatization improves cognitive capabilities, in a process parallel to an imbalance of the cholinergic system. PMID:23599398

  3. Obesity does not Lead to Imbalance Between Myocardial Phospholamban Phosphorylation and Dephosphorylation

    International Nuclear Information System (INIS)

    The activation of the beta-adrenergic system promotes G protein stimulation that, via cyclic adenosine monophosphate (cAMP), alters the structure of protein kinase A (PKA) and leads to phospholamban (PLB) phosphorylation. This protein participates in the system that controls intracellular calcium in muscle cells, and it is the primary regulator of sarcoplasmic reticulum calcium pump activity. In obesity, the beta-adrenergic system is activated by the influence of increased leptin, therefore, resulting in higher myocardial phospholamban phosphorylation via cAMP-PKA. To investigate the involvement of proteins which regulate the degree of PLB phosphorylation due to beta-adrenergic activation in obesity. In the present study, we hypothesized that there is an imbalance between phospholamban phosphorylation and dephosphorylation, with prevalence of protein phosphorylation. Male Wistar rats were randomly distributed into two groups: control (n = 14), fed with normocaloric diet; and obese (n = 13), fed with a cycle of four unsaturated high-fat diets. Obesity was determined by the adiposity index, and protein expressions of phosphatase 1 (PP-1), PKA, PLB, phosphorylated phospholamban at serine16 (PPLB-Ser16) were assessed by Western blot. Obesity caused glucose intolerance, hyperinsulinemia, hypertriglyceridemia, hyperleptinemia and did not alter the protein expression of PKA, PP-1, PLB, PPLB-Ser16. Obesity does not promote an imbalance between myocardial PLB phosphorylation and dephosphorylation via beta-adrenergic system

  4. Cardiac autonomic imbalance by social stress in rodents: understanding putative biomarkers

    Directory of Open Access Journals (Sweden)

    Susan K Wood, Phd

    2014-08-01

    Full Text Available Exposure to stress or traumatic events can lead to the development of depression and anxiety disorders. In addition to the debilitating consequences on mental health, patients with psychiatric disorders also suffer from autonomic imbalance, making them susceptible to a variety of medical disorders. Emerging evidence utilizing spectral analysis of heart rate variability (HRV, a reliable noninvasive measure of cardiovascular autonomic regulation, indicates that patients with depression and various anxiety disorders (i.e., panic, social, generalized anxiety disorders, and post traumatic stress disorder are characterized by decreased HRV. Social stressors in rodents are ethologically relevant experimental stressors that recapitulate many of the dysfunctional behavioral and physiological changes that occur in psychological disorders. In this review, evidence from clinical studies and preclinical stress models identify putative biomarkers capable of precipitating the comorbidity between disorders of the mind and autonomic dysfunction. Specifically, the role of corticotropin releasing factor, neuropeptide Y and inflammation are investigated. The impetus for this review is to highlight stress-related biomarkers that may prove critical in the development of autonomic imbalance in stress -related psychiatric disorders.

  5. Enhanced apoptosis during early neuronal differentiation in mouse ES cells with autosomal imbalance

    Institute of Scientific and Technical Information of China (English)

    Yoshiteru Kai; Teruhiko Wakayama; Mitsuo Oshimura; Chi Chiu Wang; Satoshi Kishigami; Yasuhiro Kazuki; Satoshi Abe; Masato Takiguchi; Yasuaki Shirayoshi; Toshiaki Inoue; Hisao Ito

    2009-01-01

    Although particular chromosomal syndromes are phenotypically and clinically distinct, the majority of individuals with autosomai imbalance, such as aneuploidy, manifest mental retardation. A common abnormal phenotype of Down syndrome (DS), the most prevalent autosomal aneuploidy, shows a reduction in both the number and the density of neurons in the brain. As a DS model, we have recently created chimeric mice from ES cells containing a single human chromosome 21. The mice mimicked the characteristic phenotypic features of DS, and ES cells showed a higher incidence of apoptosis during early neuronal differentiation in vitro. In this study, we examined the induction of anomalous early neural development by aneuploidy in mouse ES cells by transferring various human chromosomes or additional mouse chromosomes. Results showed an elevated incidence of apoptosis in all autosome-aneuploid clones examined during early neuronal differentiation in vitro. Further, cDNA microarray analysis revealed a common cluster of down-regulated genes, of which eight known genes are related to cell proliferation, neurite outgrowth and differentiation. Importantly, targeting of these genes by siRNA knockdown in normal mouse ES cells led to enhanced apoptosis during early neuronal differentiation. These findings strongly suggest that autosomal imbalance is associated with general neuronal loss through a common molecular mechanism for apoptosis.

  6. Heisenberg antiferromagnet on Cayley trees: Low-energy spectrum and even/odd site imbalance

    Science.gov (United States)

    Changlani, Hitesh J.; Ghosh, Shivam; Henley, Christopher L.; Läuchli, Andreas M.

    2013-02-01

    To understand the role of local sublattice imbalance in low-energy spectra of s=(1)/(2) quantum antiferromagnets, we study the s=(1)/(2) quantum nearest neighbor Heisenberg antiferromagnet on the coordination 3 Cayley tree. We perform many-body calculations using an implementation of the density matrix renormalization group (DMRG) technique for generic tree graphs. We discover that the bond-centered Cayley tree has a quasidegenerate set of a low-lying tower of states and an “anomalous” singlet-triplet finite-size gap scaling. For understanding the construction of the first excited state from the many-body ground state, we consider a wave function ansatz given by the single-mode approximation, which yields a high overlap with the DMRG wave function. Observing the ground-state entanglement spectrum leads us to a picture of the low-energy degrees of freedom being “giant spins” arising out of sublattice imbalance, which helps us analytically understand the scaling of the finite-size spin gap. The Schwinger-boson mean-field theory has been generalized to nonuniform lattices, and ground states have been found which are spatially inhomogeneous in the mean-field parameters.

  7. Dynamic Imbalance Analysis and Stability Control of Galloping Gait for a Passive Quadruped Robot

    Directory of Open Access Journals (Sweden)

    Chunlei Wang

    2015-01-01

    Full Text Available Some imbalance and balance postures of a passive quadruped robot with a simplified mathematical model are studied. Through analyzing the influence of the touchdown angle of the rear leg on the posture of the trunk during the flight phase, the stability criterion is concluded: the closer are the two moments which are the zero time of the pitching angle and the peak time of the center of mass, the better is the stability of the trunk posture during the flight phase. Additionally, the validity of the stability criterion is verified for the cat, greyhound, lion, racehorse, basset hound, and giraffe. Furthermore, the stability criterion is also applicable when the center of the mass of body is shifted. Based on the stability criterion, the necessary and sufficient condition of the galloping stability for the quadruped robot is proposed to attain a controlled thrust. The control strategy is designed by an optimization dichotomy algorithm for seeking the zero point of the balance condition. Through the control results, it is demonstrated that the imbalance posture of the trunk could be stabilized by adjusting the stiffness of four legs.

  8. Dynamic Imbalance Analysis and Stability Control of Galloping Gait for a Passive Quadruped Robot.

    Science.gov (United States)

    Wang, Chunlei; Zhang, Ting; Wei, Xiaohui; Long, Yongjun; Wang, Shigang

    2015-01-01

    Some imbalance and balance postures of a passive quadruped robot with a simplified mathematical model are studied. Through analyzing the influence of the touchdown angle of the rear leg on the posture of the trunk during the flight phase, the stability criterion is concluded: the closer are the two moments which are the zero time of the pitching angle and the peak time of the center of mass, the better is the stability of the trunk posture during the flight phase. Additionally, the validity of the stability criterion is verified for the cat, greyhound, lion, racehorse, basset hound, and giraffe. Furthermore, the stability criterion is also applicable when the center of the mass of body is shifted. Based on the stability criterion, the necessary and sufficient condition of the galloping stability for the quadruped robot is proposed to attain a controlled thrust. The control strategy is designed by an optimization dichotomy algorithm for seeking the zero point of the balance condition. Through the control results, it is demonstrated that the imbalance posture of the trunk could be stabilized by adjusting the stiffness of four legs. PMID:27110095

  9. Force-velocity profile: imbalance determination and effect on lower limb ballistic performance.

    Science.gov (United States)

    Samozino, P; Edouard, P; Sangnier, S; Brughelli, M; Gimenez, P; Morin, J-B

    2014-06-01

    This study sought to lend experimental support to the theoretical influence of force-velocity (F-v) mechanical profile on jumping performance independently from the effect of maximal power output (P max ). 48 high-level athletes (soccer players, sprinters, rugby players) performed maximal squat jumps with additional loads from 0 to 100% of body mass. During each jump, mean force, velocity and power output were obtained using a simple computation method based on flight time, and then used to determine individual linear F-v relationships and P max values. Actual and optimal F-v profiles were computed for each subject to quantify mechanical F-v imbalance. A multiple regression analysis showed, with a high-adjustment quality (r²=0.931, Pperformance (Pballistic performance depends, in addition to P max , on the F-v profile of lower limbs. This adds support to the actual existence of an individual optimal F-v profile that maximizes jumping performance, a F-v imbalance being associated to a lower performance. These results have potential strong applications in the field of strength and conditioning.

  10. Obtained Diversity Gain in OFDM Systems under the Influence of IQ Imbalance

    Science.gov (United States)

    Jin, Younghwan; Kwon, Jihyeon; Lee, Yuro; Lee, Dongchan; Ahn, Jaemin

    In this paper, we analyze the effects of IQ (In-phase/Quadrature-phase) imbalance at both transmitter and receiver of OFDM (Orthogonal Frequency Division Multiplexing) system and show that more diversity gain can be achieved even though there are unwanted IQ imbalance. When mixed sub-carriers within an OFDM symbol due to the IQ imbalance undergo frequency selective channels, additional diversity effects are expected during the demodulation process. Simulation results on the symbol error rate (SER) performance with ML (Maximum Likelihood) and OSIC (Ordered Successive Interference Cancellation) receiver show that significant performance gain can be achieved with the diversity gain caused by the IQ imbalance combined with the frequency selective channels.

  11. Efficient Compensation of Transmitter and Receiver IQ Imbalance in OFDM Systems

    Directory of Open Access Journals (Sweden)

    Tandur Deepaknath

    2010-01-01

    Full Text Available Radio frequency impairments such as in-phase/quadrature-phase (IQ imbalances can result in a severe performance degradation in direct-conversion architecture-based communication systems. In this paper, we consider the case of transmitter and receiver IQ imbalance together with frequency selective channel distortion. The proposed training-based schemes can decouple the compensation of transmitter and receiver IQ imbalance from the compensation of channel distortion in an orthogonal frequency division multiplexing (OFDM systems. The presence of frequency selective channel fading is a requirement for the estimation of IQ imbalance parameters when both transmitter/receiver IQ imbalance are present. However, the proposed schemes are equally applicable over a frequency flat/frequency selective channel when either transmitter or only receiver IQ imbalance is present. Once the transmitter and receiver IQ imbalance parameters are estimated, a standard channel equalizer can be applied to estimate/compensate for the channel distortion. The proposed schemes result in an overall lower training overhead and a lower computational requirement, compared to the joint compensation of transmitter/receiver IQ imbalance and channel distortion. Simulation results demonstrate that the proposed schemes provide a very efficient compensation with performance close to the ideal case without any IQ imbalance.

  12. Multiple origins of Plasmodium falciparum dihydropteroate synthetase mutant alleles associated with sulfadoxine resistance in India.

    Science.gov (United States)

    Lumb, Vanshika; Das, Manoj K; Singh, Neeru; Dev, Vas; Khan, Wajihullah; Sharma, Yagya D

    2011-06-01

    With the spread of chloroquine (CQ)-resistant malaria in India, sulfadoxine-pyrimethamine (SP) alone or in combination with artesunate is used as an alternative antimalarial drug. Due to continuous drug pressure, the Plasmodium falciparum parasite is exhibiting resistance to antifolates because of mutations in candidate genes dihydrofolate reductase (dhfr) and dihydropteroate synthetase (dhps). Our earlier study on flanking microsatellite markers of dhfr mutant alleles from India had shown a single origin of the pyrimethamine resistance and some minor haplotypes which shared haplotypes with Southeast Asian (Thailand) strains. In the present study, we have analyzed 193 of these Indian P. falciparum isolates for 15 microsatellite loci around dhps to investigate the genetic lineages of the mutant dhps alleles in different parts of the country. Eighty-one of these samples had mutant dhps alleles, of which 62 were from Andaman and Nicobar Islands and the remaining 19 were from mainland India. Of 112 isolates with a wild-type dhps allele, 109 were from mainland India and only 3 were from Andaman and Nicobar Islands. Consistent with the model of selection, the mean expected heterozygosity (H(e)) around mutant dhps alleles (H(e) = 0.55; n = 81) associated with sulfadoxine resistance was lower (P ≤ 0.05) than the mean H(e) around the wild-type dhps allele (H(e) = 0.80; n = 112). There was more genetic diversity in flanking microsatellites of dhps than dhfr among these isolates, which confirms the assertion that dhps mutations are at a very early stage of fixation in the parasite population. Microsatellite haplotypes around various mutant dhps alleles suggest that the resistant dhps alleles have multiple independent origins in India, especially in Andaman and Nicobar Islands. Determining the genetic lineages of the resistant dhps alleles on Andaman and Nicobar Islands and mainland India is significant, given the role of Asia in the intercontinental spread of chloroquine

  13. Correlation of DNA fragment sizes within loci in the presence of non-detectable alleles.

    Science.gov (United States)

    Chakraborty, R; Li, Z

    1995-01-01

    At present most forensic databases of DNA profiling of individuals consist of DNA fragment sizes measured from Southern blot restriction fragment length polymorphism (RFLP) analysis. Statistical studies of these databases have revealed that, when fragment sizes are measured from RFLP analysis, some of the single-band patterns of individuals may actually be due to heterozygosity of alleles in which fragment size resulting from one allele remains undetected. In this work, we evaluate the effect of such allelic non-detectability on correlation of fragment sizes within individuals at a locus, and its impact on the inference of independence of fragment sizes within loci. We show that when non-detectable alleles are present in a population at a locus, positive correlations of fragment sizes are expected, which increase with the proportion of non-detectable alleles at the locus. Therefore, a non-zero positive correlation is not a proof of allelic dependence within individuals. Applications of this theory to the current forensic RFLP databases within the US show that there is virtually no evidence of significant allelic dependence within any of the loci. Therefore, the assumption that DNA fragment sizes within loci are independent is valid, and hence, the population genetic principles of computing DNA profile frequencies by multiplying binned frequencies of fragment sizes are most likely to be appropriate for forensic applications of DNA typing data.

  14. Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size.

    Science.gov (United States)

    Garza, J C; Slatkin, M; Freimer, N B

    1995-07-01

    The distributions of allele sizes at eight simple-sequence repeat (SSR) or microsatellite loci in chimpanzees are found and compared with the distributions previously obtained from several human populations. At several loci, the differences in average allele size between chimpanzees and humans are sufficiently small that there might be a constraint on the evolution of average allele size. Furthermore, a model that allows for a bias in the mutation process shows that for some loci a weak bias can account for the observations. Several alleles at one of the loci (Mfd 59) were sequenced. Differences between alleles of different lengths were found to be more complex than previously assumed. An 8-base-pair deletion was present in the nonvariable region of the chimpanzee locus. This locus contains a previously unrecognized repeated region, which is imperfect in humans and perfect in chimpanzees. The apparently greater opportunity for mutation conferred by the two perfect repeat regions in chimpanzees is reflected in the higher variance in repeat number at Mfd 59 in chimpanzees than in humans. These data indicate that interspecific differences in allele length are not always attributable to simple changes in the number of repeats. PMID:7659015

  15. Electronic compressibility and charge imbalance relaxation in cuprate superconductors

    International Nuclear Information System (INIS)

    In the material SmLa1-xSrxCuO4-δ with alternating intrinsic Josephson junctions we explain theoretically the relative amplitude of the two plasma peaks in transmission by taking into account the spatial dispersion of the Josephson Plasma Resonance in c-direction due to charge coupling. From this and the magnetic field dependence of the plasma peaks in the vortex solid and liquid states it is shown that the electronic compressibility of the CuO2 layers is consistent with a free electron value. Also the London penetration depth λab∼1100 Angst near Tc can be determined. The voltage response in the IV-curve of a Bi2Sr2CaCu2O8 mesa due to microwave irradiation or current injection in a second mesa is related to the nonequilibrium charge imbalance of quasiparticles and Cooper pairs and from our experimental data the relaxation time ∼100 ps is obtained

  16. Interaction between Current Imbalance and Magnetization in LHC Cables

    CERN Document Server

    Bottura, L; Kuijper, A; den Ouden, A; ten Haken, B; ten Kate, H H J

    2001-01-01

    The quality of the magnetic field in superconducting accelerator magnets is associated with the properties of the superconducting cable. Current imbalances due to coupling currents DI, as large as 100 A, are induced by spatial variations of the field sweep rate and contact resistances. During injection at a constant field all magnetic field components show a decay behavior. The decay is caused by a diffusion of coupling currents into the whole magnet. This results in a redistribution of the transport current among the strands and causes a demagnetization of the superconducting cable. As soon as the field is ramped up again after the end of injection, the magnetization rapidly recovers from the decay and follows the course of the original hysteresis curve. In order to clarify the interactions between the changes in current and magnetization during injection we performed a number of experiments. A magnetic field with a spatially periodic pattern was applied to a superconducting wire in order to simulate the cou...

  17. Redox Imbalance in T Cell-Mediated Skin Diseases

    Directory of Open Access Journals (Sweden)

    Saveria Pastore

    2010-01-01

    Full Text Available The skin is permanently exposed to physical, chemical, and biological aggression by the environment. In addition, acute and chronic inflammatory events taking place in the skin are accompanied by abnormal release of pro-oxidative mediators. In this paper, we will briefly overview the homeostatic systems active in the skin to maintain the redox balance and also to counteract abnormal oxidative stress. We will concentrate on the evidence that a local and/or systemic redox dysregulation accompanies the chronic inflammatory disorder events associated to psoriasis, contact dermatitis, and atopic dermatitis. We will also discuss the fact that several well-established treatments for the therapy of chronic inflammatory skin disorders are based on the application of strong physical or chemical oxidants onto the skin, indicating that, in selected conditions, a further increase of the oxidative imbalance may lead to a beneficial outcome.

  18. A case of myotonic dystrophy with electrolyte imbalance.

    Science.gov (United States)

    Ko, Weon-Jin; Kim, Kwang-Yeol; Kim, So-Mi; Hong, Seung-Jae; Lee, Sang-Hoon; Song, Ran; Yang, Hyung-In; Lee, Yeon-Ah

    2013-07-01

    Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are being reported. But, Electrolytes imbalance is a very rare condition in patients with DM1 yet. Herein we present a 42-yr-old Korean male of DM1 with abnormally elevated serum sodium and potassium. The patient had minimum volume of maximally concentrated urine without water loss. It was only cured by normal saline hydration. The cause of hypernatremia was considered by primary hypodipsia. Hyperkalemic conditions such as renal failure, pseudohyperkalemia, cortisol deficiency and hyperkalemic periodic paralysis were excluded. Further endocrine evaluation suggested selective hyperreninemic hypoaldosteronism as a cause of hyperkalemia.

  19. Momentum Imbalance Observables as a Probe of Gluon TMDs

    CERN Document Server

    Pisano, Cristian

    2015-01-01

    The unpolarized and linearly polarized gluon TMDs can be directly probed in heavy quark and jet pair production in unpolarized electron-proton collisions by looking at observables, like transverse momentum distributions and azimuthal asymmetries, depending on the momentum imbalance of the pair. Analytical expressions are presented for these observables and for analogous ones in Higgs plus jet and quarkonium plus photon production in unpolarized proton-proton scattering experiments. It is shown how the proposed measurements, to be performed at a future EIC and at the LHC, could provide important information on the size and shape of gluon TMDs, as well as on other fundamental properties such as their process and energy scale dependences.

  20. Redox Imbalance and Viral Infections in Neurodegenerative Diseases

    Directory of Open Access Journals (Sweden)

    Dolores Limongi

    2016-01-01

    Full Text Available Reactive oxygen species (ROS are essential molecules for many physiological functions and act as second messengers in a large variety of tissues. An imbalance in the production and elimination of ROS is associated with human diseases including neurodegenerative disorders. In the last years the notion that neurodegenerative diseases are accompanied by chronic viral infections, which may result in an increase of neurodegenerative diseases progression, emerged. It is known in literature that enhanced viral infection risk, observed during neurodegeneration, is partly due to the increase of ROS accumulation in brain cells. However, the molecular mechanisms of viral infection, occurring during the progression of neurodegeneration, remain unclear. In this review, we discuss the recent knowledge regarding the role of influenza, herpes simplex virus type-1, and retroviruses infection in ROS/RNS-mediated Parkinson’s disease (PD, Alzheimer’s disease (AD, and amyotrophic lateral sclerosis (ALS.

  1. Initial invasion of gametophytic self-incompatibility alleles in the absence of tight linkage between pollen and pistil S alleles.

    Science.gov (United States)

    Sakai, Satoki; Wakoh, Haluka

    2014-08-01

    In homomorphic self-incompatibility (SI) systems of plants, the loci controlling the pollen and pistil types are tightly linked, and this prevents the generation of compatible combinations of alleles expressing pollen and pistil types, which would result in self-fertilization. We modeled the initial invasion of the first pollen and pistil alleles in gametophytic SI to determine whether these alleles can stably coexist in a population without tight linkage. We assume pollen and pistil loci each carry an incompatibility allele S and an allele without an incompatibility function N. We assume that pollen with an S allele are incompatible with pistils carrying S alleles, whereas other crosses are compatible. Ovules in pistils carrying an S allele suffer viability costs because recognition consumes resources. We found that the cost of carrying a pistil S allele allows pollen and pistil S alleles to coexist in a stable equilibrium if linkage is partial. This occurs because parents that carry pistil S alleles but are homozygous for pollen N alleles cannot avoid self-fertilization; however, they suffer viability costs. Hence, pollen N alleles are selected again. When pollen and pistil S alleles can coexist in a polymorphic equilibrium, selection will favor tighter linkage.

  2. Effects of WR1065 on 6-hydroxydopamine-induced motor imbalance: Possible involvement of oxidative stress and inflammatory cytokines.

    Science.gov (United States)

    Kheradmand, Afshin; Nayebi, Alireza M; Jorjani, Masoumeh; Khalifeh, Solmaz; Haddadi, Rasool

    2016-08-01

    Over production of reactive oxygen species (ROS) is postulated to be the main contributor in degeneration of nigrostriatal dopaminergic neurons. In this study we investigated the effects of WR1065, a free radical scavenger, on motor imbalance, oxidative stress parameters and inflammatory cytokines in CSF and brain of hemi-parkinsonian rats. Lesion of dopaminergic neurons was done by unilateral infusion of 6-hydroxydopamine into the central region of the substentia nigra pars compacta (SNc) to induce hemi-parkinsonism and motor imbalance in rats. WR1065 (20, 40 and 80μg/2μl/rat) was administered three days before 6-OHDA administration. After three weeks behavioral study was performed and then brain and CSF samples were collected to assess tumor necrosis factor (TNFα), interlukin (IL-1β), reduced glutathione (GSH), and malondialdehyde (MDA). WR1065 pre-treatment in rats before receiving 6-OHDA, improved significantly motor impairment and caused reduction of MDA and inflammatory cytokines TNFα and IL-1β levels, while GSH level significantly increased when compared with lesioned rats. Our study indicated that WR1065 could improve 6-OHDA-induced motor imbalance. Furthermore, it decreased lipid peroxidation and inflammatory cytokines and restored the level of GSH up to normal range. We suggest that WR1065 can be proposed as a potential neuroprotective agent in motor impairments of PD. However to prove this hypothesis more clinical trial studies should be done. PMID:27222379

  3. Evaluation of pulmonary dysfunctions and acid–base imbalances induced by Chlamydia psittaci in a bovine model of respiratory infection

    OpenAIRE

    Ostermann, Carola; Linde, Susanna; Siegling-Vlitakis, Christiane; Reinhold, Petra

    2014-01-01

    Background Chlamydia psittaci (Cp) is a respiratory pathogen capable of inducing acute pulmonary zoonotic disease (psittacosis) or persistent infection. To elucidate the pathogenesis of this infection, a translational large animal model was recently introduced by our group. This study aims at quantifying and differentiating pulmonary dysfunction and acid–base imbalances induced by Cp. Methods Forty-two calves were grouped in (i) animals inoculated with Cp (n = 21) and (ii) controls sham-inocu...

  4. Novel method for analysis of allele specific expression in triploid Oryzias latipes reveals consistent pattern of allele exclusion.

    Directory of Open Access Journals (Sweden)

    Tzintzuni I Garcia

    Full Text Available Assessing allele-specific gene expression (ASE on a large scale continues to be a technically challenging problem. Certain biological phenomena, such as X chromosome inactivation and parental imprinting, affect ASE most drastically by completely shutting down the expression of a whole set of alleles. Other more subtle effects on ASE are likely to be much more complex and dependent on the genetic environment and are perhaps more important to understand since they may be responsible for a significant amount of biological diversity. Tools to assess ASE in a diploid biological system are becoming more reliable. Non-diploid systems are, however, not uncommon. In humans full or partial polyploid states are regularly found in both healthy (meiotic cells, polynucleated cell types and diseased tissues (trisomies, non-disjunction events, cancerous tissues. In this work we have studied ASE in the medaka fish model system. We have developed a method for determining ASE in polyploid organisms from RNAseq data and we have implemented this method in a software tool set. As a biological model system we have used nuclear transplantation to experimentally produce artificial triploid medaka composed of three different haplomes. We measured ASE in RNA isolated from the livers of two adult, triploid medaka fish that showed a high degree of similarity. The majority of genes examined (82% shared expression more or less evenly among the three alleles in both triploids. The rest of the genes (18% displayed a wide range of ASE levels. Interestingly the majority of genes (78% displayed generally consistent ASE levels in both triploid individuals. A large contingent of these genes had the same allele entirely suppressed in both triploids. When viewed in a chromosomal context, it is revealed that these genes are from large sections of 4 chromosomes and may be indicative of some broad scale suppression of gene expression.

  5. Study on the Correlation between Chronic Asymptomatic HBV Carriers of Yin Asthenia Constitution and Genotypes of HLA-DRB1and HLA DQA1Alleles%慢性无症状HBV携带者阴虚体质与人类白细胞抗原-DRB1、DQA1基因多态性的联系

    Institute of Scientific and Technical Information of China (English)

    过建春; 肖丽娜; 荀运浩; 王宇芳; 李春青; 石伟珍; 施军平

    2012-01-01

    目的 探讨慢性无症状HBV携带者(chronic asymptomatic HBV carrier,ASC)阴虚体质与人类白细胞抗原(human leukocyte antigen,HLA) -DRB1、HLA-DQA1基因多态性的内在联系.方法 将105例ASC患者进行中医体质分型及分组:阴虚质组47例和非阴虚质组58例.采用聚合酶链反应-序列特异性引物(PCR-SSP)技术测定HLA-DRB1、HLA-DQA1等位基因型.结果 阴虚质组HLA-DRB1*09、HLA-DQA1*0301的基因频率明显低于非阴虚质组(分别为12.1% vs 27.8%,19.1% vs 39.7%),差异有统计学意义(P<0.01);HLA-DRB1*11、HLA-DQA1*0501的基因频率明显高于非阴虚质组(分别为12.1% vs 4.3%,28.7%vs9.5%),差异有统计学意义(P<0.05,P<0.01).结论 HLA-DRB1*09和HLA-DQA1*0301可能是ASC非阴虚体质患者的分子基础;HLA-DRB1*11和HLA-DQA1* 0501可能是ASC阴虚体质患者的分子基础.%Objective To study on the correlation between chronic asymptomatic HBV carriers (ASC) of yin asthenia constitution and genotypes of HLA-DRB1 and HLA DQAt alleles. Methods Totally 105 ASC were assigned to two groups according to their constitutions, i. e. , the yin asthenia group (47 cases) and the non-yin asthenia group (58 cases). The genotypes of HLA-DRB1 and HLA DQA1 alleles were determined using PCR-SSP. Results The gene frequency of HLA-DRB1 * 09 allele and HLA-DQA1 * 0301 aliele (being 12. 1 % and 19. 1%) were obviously lower in the yin asthenia group than in the non-yin asthenia group (being 27. 8% and 39. 7%, P<0. 05). The gene frequency of HLA-DRB1 * 11 allele and HLA-DQA1 * 0501 allele were obviously higher in the yin asthenia group (being 12. 1% and 28. 7%) than in the non-yin asthenia group (4. 3% and 9. 5%), showing statistical difference ( P < 0. 05, P < 0. 01 ). Conclusions HLA-DRB1 * 09 allele and HLA-DQA1 *0301 allele might be the molecular bases for non-yin asthenia patients with ASC. HLA-DRB1 * 11 allele and HLA-DQA1 * 0501 allele might be the molecular bases tor yin asthenia

  6. Detection of capacity imbalance in vanadium electrolyte and its electrochemical regeneration for all-vanadium redox-flow batteries

    Science.gov (United States)

    Roznyatovskaya, Nataliya; Herr, Tatjana; Küttinger, Michael; Fühl, Matthias; Noack, Jens; Pinkwart, Karsten; Tübke, Jens

    2016-01-01

    A vanadium electrolyte for redox-flow batteries (VRFB) with different VIII and VIV mole fractions has been studied by UV-vis spectroscopy. Spectrophotometric detection enables a rough estimate of the VIV and VIII content, which can be used to detect an electrolyte capacity imbalance, i.e. a deviation in the mole fraction of VIV or VIII away from 50%. The isosbestic point at 600 nm can be used as a reference point in the analysis of common VRFB electrolyte batches. The VRFB electrolyte is observed to have an imbalance after prolonged storage (a couple of years) in a tank under ambient conditions. A regeneration procedure, which involves pre-charging the unbalanced electrolyte and mixing part of it with a portion of initial unbalanced electrolyte, has been tested. The resulting rebalanced electrolyte has been compared with a common electrolyte in a charge-discharge cell test and is shown to be suitable for cell operation.

  7. HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides.

    Science.gov (United States)

    Kidnapillai, S; Sirisena, N D; Dissanayake, V H

    2016-06-01

    This preliminary study aims to describe the HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides (SA). An anonymised database of 373 Sri Lankan patients with SA referred for HLA-B27 testing was retrospectively analysed. Eighty five (22.8%) patients were positive for the HLA-B27 allele. A male preponderance was observed among the positives. The HLA-B27 allele frequency in this sample of patients with SA was relatively low compared to published studies in other populations. Further research is needed to identify the predominant subtypes of the allele to determine which subtypes are the most prevalent in a larger sample of Sri Lankan patients with SA, and to define their association with the specific types of SA. PMID:27423748

  8. Expression and loss of alleles in cultured mouse embryonic fibroblasts and stem cells carrying allelic fluorescent protein genes

    Directory of Open Access Journals (Sweden)

    Stringer Saundra L

    2006-10-01

    Full Text Available Abstract Background Loss of heterozygosity (LOH contributes to many cancers, but the rate at which these events occur in normal cells of the body is not clear. LOH would be detectable in diverse cell types in the body if this event were to confer an obvious cellular phenotype. Mice that carry two different fluorescent protein genes as alleles of a locus would seem to be a useful tool for addressing this issue because LOH would change a cell's phenotype from dichromatic to monochromatic. In addition, LOH caused by mitotic crossing over might be discernable in tissues because this event produces a pair of neighboring monochromatic cells that are different colors. Results As a step in assessing the utility of this approach, we derived primary embryonic fibroblast populations and embryonic stem cell lines from mice that carried two different fluorescent protein genes as alleles at the chromosome 6 locus, ROSA26. Fluorescence activated cell sorting (FACS showed that the vast majority of cells in each line expressed the two marker proteins at similar levels, and that populations exhibited expression noise similar to that seen in bacteria and yeast. Cells with a monochromatic phenotype were present at frequencies on the order of 10-4 and appeared to be produced at a rate of approximately 10-5 variant cells per mitosis. 45 of 45 stably monochromatic ES cell clones exhibited loss of the expected allele at the ROSA26 locus. More than half of these clones retained heterozygosity at a locus between ROSA26 and the centromere. Other clones exhibited LOH near the centromere, but were disomic for chromosome 6. Conclusion Allelic fluorescent markers allowed LOH at the ROSA26 locus to be detected by FACS. LOH at this locus was usually not accompanied by LOH near the centromere, suggesting that mitotic recombination was the major cause of ROSA26 LOH. Dichromatic mouse embryonic cells provide a novel system for studying genetic/karyotypic stability and factors

  9. 孕期营养失衡与子代2型糖尿病发生的表观遗传机制研究进展%Advances in the studies of epigenetic mechanisms linking pregnancy nutrition imbalances with off-spring type 2 diabetes risk

    Institute of Scientific and Technical Information of China (English)

    许诚楷; 王恺; 丁元林; 何玉清

    2014-01-01

    A number of studies showed adverse intrauterine environment , especially inadequate or excessive intake of nutrients in pregnancy are likely to affect the normal development of fetus , change the genes phenotype associated with fetal energy metabolism through the interaction with fetal genetic factors , and lead to increased risks of developing obesity , insulin resistance and type 2 diabetes in adult hood . Studies also indicated that eip-genetic factors such as DNA methylation , histone modification and the miR-NA expression would have far-reaching impacts on fetal development , energy metabolism and type 2 diabe-tes .This review summarized recent literatures about the impacts of nutritional imbalance during pregnancy on the development of type Ⅱ diabetes .Expect to provide scientific advices for maternal dietary intake and prevention of type 2 diabetes .%大量研究表明,不利的宫内环境,尤其是孕期营养摄入不足或过多均能影响胎儿的正常发育和代谢,并通过与胎儿遗传因素发生交互作用,改变与胎儿能量代谢相关的基因表型,增加子代出生后罹患肥胖、胰岛素抵抗和2型糖尿病的风险。研究还发现,孕期营养失衡主要是通过 DNA 甲基化、组蛋白修饰和 microRNA 调控等表观遗传学机制影响胎儿发育和代谢,对2型糖尿病的发生有深远影响。该文综述了孕期营养失衡与2型糖尿病的最新文献,期望为孕产妇膳食营养和预防2型糖尿病的发生提供科学的理论依据。

  10. The genetic study on a rare inter-allelic recombination of HLA-C locus in a Chinese Han family%一个罕见HLA-C等位基因间重组家系的遗传背景研究

    Institute of Scientific and Technical Information of China (English)

    邹红岩; 羊婷婷; 李桢

    2011-01-01

    Objective To study the inter-allelic recombination event occurring in the HLA-C locus in a family of Chinese Han nationality, and to evaluate the molecular genetic background of the new HLA allele.Methods Peripheral blood samples were collected from a Chinese leukemia woman patient, as well as her healthy parents and two brothers.HLA-A, C, B, DRB1 and DQB1 alleles were typed by high-resolution PCR-sequence-based typing (SBT) method using Atria Genetic AlleleSEQR HLA SBT kits.The Protrans S4 HLA-C single allele-specific sequencing strategy was used to separate the two HLA-C alleles and to determine novelty of the allele.The full length sequences of HLA-C alleles of the patient and her parents were further analyzed using cloning and haplotype sequencing method. The HLA five loci linked haplotypes and the recombination site were analyzed by family study, meanwhile the full length sequences of the five HLA-C alleles were compared with the IMGT/HLA database by the program "BLAST".Results The two haplotypes of the father and mother were a:A*0207-C*010201-B*550201-DRB1*090102-DRQ1*030302 and b:A*240201-C*120202-B*5201-DRB1*1502-DRQ1*0601, c:A*300101-C*060201-B*130201-DRB1*0405-DRQ1*0401 and d:A*110101-C*070201-B*4001-DRB1*080302-DRQ1*0601,respectively.The two brothers inherited their parent′s haplotypes a, d and b, c respectively.The two haplotypes of the patient were the maternal c and paternal recombinant a/b haplotype.The recombinant a/b haplotype A*240201-C*new-B*550201-DRB1*090102-DRQ1*030302, A*240201 came from the paternal haplotype b,while B*550201-DRB1*090102-DRQ1*030302 came from the other paternal haplotype a.When comparing the full length sequences of the HLA-C new allele with the father′s allele C*010201 and C*120202, it could deduce that the recombinant a/b haplotype derived from a recombination event occurring between the paternal chromosome 6 during meiosis.The crossover site was between genomic nt273 and nt330 of HLA-C alleles, which created a HLA

  11. The state line of solution of imbalances problem the wholesale electricity market of Ukraine

    Directory of Open Access Journals (Sweden)

    А.S. Kolesnichenko

    2011-10-01

    Full Text Available This article deals with the problem of formation and dynamics of imbalances of the wholesale electricity market (WEM of Ukraine. The features and prospects of imbalance control in the context of reforming the wholesale electricity market are analyzed.

  12. The protease inhibitor PI*S allele and COPD

    DEFF Research Database (Denmark)

    Hersh, C P; Ly, N P; Berkey, C S;

    2005-01-01

    In many countries, the protease inhibitor (SERPINA1) PI*S allele is more common than PI*Z, the allele responsible for most cases of chronic obstructive pulmonary disease (COPD) due to severe alpha 1-antitrypsin deficiency. However, the risk of COPD due to the PI*S allele is not clear. The current...

  13. HLA Class II Allele and Haplotype Frequencies in Iranian Patients with Leukemia

    Directory of Open Access Journals (Sweden)

    Farideh Khosravi

    2007-09-01

    Full Text Available Previous studies demonstrated significant differences in a number of HLA allele frequencies in leukemia patients and normal subjects. In this study, we have analyzed HLA class II alleles and haplotypes in 110 leukemia patients (60 acute myelogenous leukemia "AML", 50 chronic myelogenous leukemia"CML" and 180 unrelated normal subjects. Blood samples were collected from all of the patients and control subjects. DNA was extracted by salting out method and HLA typing was performed using PCR-SSP method. Significant positive association with AML was obtained for HLA-DRB1*11allele (35% vs. 24.7%, P=0.033. Two alleles including HLA-DRB4 and -DQB1*0303 were significantly less frequent in AML patients than in controls. HLA-DQB1*0303 allele was never observed in CML patients compared with allele frequency in controls (4.2%. According to haplotype analysis, HLA-DRB1*0101/DQA1*0104/-DQB1*0501 frequencies were significantly higher and -DRB1*16/-DQA1*01021/-DQB1*0501 frequencies were significantly lower in CML patients than in controls .In conclusion it is suggested that HLA-DRB1*16 allele and HLA-DRB1*15/-DQA1*0103/-DQB1*06011 and -DRB1*16/-DQA1*01021/-DQB1*0501 haplotypes predispose individuals to AML and HLA-DRB4 allele predispose to CML. Future studies are needed to confirm these results and establish the role of these associations in AML and CML.

  14. Semi-parametric Allelic Tests For Mapping Multiple Phenotypes: Binomial Regression And Mahalanobis Distance

    Science.gov (United States)

    Majumdar, Arunabha; Witte, John S.; Ghosh, Saurabh

    2016-01-01

    Binary phenotypes commonly arise due to multiple underlying quantitative precursors. Genetic variants may impact multiple traits in a pleiotropic manner. Hence, simultaneously analyzing such correlated traits may be more powerful than analyzing individual traits. Various genotype-level methods, e.g. MultiPhen [O'Reilly et al., 2012], have been developed to identify genetic factors underlying a multivariate phenotype. For univariate phenotypes, the usefulness and applicability of allele-level tests have been investigated. The test of allele frequency difference among cases and controls is commonly used for mapping case-control association. However, allelic methods for multivariate association mapping have not been studied much. We explore two allelic tests of multivariate association: one using a Binomial regression model based on inverted regression of genotype on phenotype (BAMP), and the other employing the Mahalanobis distance between two sample means of the multivariate phenotype vector for two alleles at a SNP (DAMP). These methods can incorporate both discrete and continuous phenotypes. Some theoretical properties for BAMP are studied. Using simulations, the power of the methods for detecting multivariate association are compared with the genotype-level test MultiPhen. The allelic tests yield marginally higher power than MultiPhen for multivariate phenotypes. For one/two binary traits under recessive mode of inheritance, allelic tests are found substantially more powerful. All three tests are applied to two real data and the results offer some support for the simulation study. Since the allelic approaches assume Hardy-Weinberg Equilibrium (HWE), we propose a hybrid approach for testing multivariate association that implements MultiPhen when HWE is violated and BAMP otherwise. PMID:26493781

  15. The specific shapes of gender imbalance in scientific authorships: a network approach

    CERN Document Server

    Araújo, Tanya

    2016-01-01

    Gender differences in collaborative research have received little attention when compared with the growing importance that women hold in academia and research. Unsurprisingly, most of bibliometric databases have a strong lack of directly available information by gender. Although empirical-based network approaches are often used in the study of research collaboration, the studies about the influence of gender dissimilarities on the resulting topological outcomes are still scarce. Here, networks of scientific subjects are used to characterize patterns that might be associated to five categories of authorships which were built based on gender. We find enough evidence that gender imbalance in scientific authorships brings a peculiar trait to the networks induced from papers published in Web of Science (WoS) indexed journals of Economics over the period 2010-2015 and having at least one author affiliated to a Portuguese institution. Our results show the emergence of a specific pattern when the network of co-occurr...

  16. Copper, zinc and selenium imbalance in Moroccan haemodialysis patients and its correlation to lipid peroxidation

    Directory of Open Access Journals (Sweden)

    Rachid Eljaoudi

    2015-08-01

    Results: The study showed that, plasma Zn and Se concentrations were lower in haemodialysis patients compared to that of healthy controls, while plasma Cu, MDA and Cu/Zn ratio were higher. Plasma Cu/Zn ratios were positively correlated to MDA and weakly correlated to hs-CRP levels whereas plasma Se concentrations were inversely correlated to MDA. In addition, MDA levels increased after haemodialysis session. Conclusions: Based on the results of the present study regarding the imbalance of trace elements in haemodialysis patients, it seems reasonable to periodically assess the trace elements status and consider possible correctional therapy in case of deficiency. [Int J Res Med Sci 2015; 3(8.000: 2079-2085

  17. Redox imbalance mediates entomotoxic effects of the conifer Araucaria angustifolia in Anticarsia gemmatalis velvetbean caterpillar

    Directory of Open Access Journals (Sweden)

    Cátia dos Santos Branco

    2016-12-01

    Full Text Available The velvetbean caterpillar, Anticarsia gemmatalis is one of the most important pests of soybean crops in tropical America. By feeding on leaves, significant defoliation occurs resulting in reduced photosynthetic capacity required for plants’ maintenance and growth, which subsequently can lead to crop losses and reduced agricultural productivity. Many studies have sought to look for compounds that have insecticidal effects. One class of compounds is phenolics, which are produced by plants and have been found to influence the behavior and development of defoliators, representing an important alternative approach to many synthetic insecticides. Particularly, Araucaria angustifolia is a plant rich in polyphenols, which are compounds able to alter cellular dynamics through modulating redox status. In this study, A. angustifolia extract (AAE was added to the artificial diet of A. gemmatalis. The results demonstrated that AAE was able to reduce larval viability by inducing morphological changes and a delay in the insect’s development. In addition, AAE was found to induce oxidative damage to lipids and proteins, as well as increased nitric oxide levels in A. gemmatalis larvae. AAE treatments also decreased the antioxidant defense systems, leading to a redox imbalance. The reduction in viability in A. gemmatalis was positively correlated with oxidative markers, suggesting that redox imbalance can lead to larvae’s death. These results suggest that AAE possess insecticidal potential through the mechanisms of action of altering cellular redox state. Though further studies are required to confirm this, our study nevertheless contributes to a better understanding of AAE’s mechanisms of action as potential biopesticides in pest management, opening new perspectives on the development of compounds with insecticidal action.

  18. Is an imbalance between physical capacity and exposure to work-related physical factors associated with low-back, neck or shoulder pain?

    NARCIS (Netherlands)

    Hamberg-Reenen, H.H. van; Ariëns, G.A.M.; Blatter, B.M.; Beek, A.J. van der; Twisk, J.W.R.; Mechelen, W. van; Bongers, P.M.

    2006-01-01

    Objectives: This study investigates whether an imbalance between physical capacity and exposure to work-related physical factors is associated with low-back, neck, or shoulder pain. Methods: Data of the longitudinal study on musculoskeletal disorders, absenteeism, stress, and health (SMASH), with a

  19. Human leukocyte antigen class II susceptibility conferring alleles among non-insulin dependent diabetes mellitus patients

    International Nuclear Information System (INIS)

    To determine the frequency of Human Leukocyte Antigen (HLA) class II susceptibility conferring alleles among type 2 Diabetes mellitus patients, in comparison with healthy controls. Cross-sectional comparative study. Patients with non-insulin dependent Diabetes mellitus meeting World Health Organization criteria were studied. These were compared with age and gender matched healthy control subjects. For each subject (patients as well as controls), DNA was extracted from ethylene diamine tetra-acetate sample and HLA class II DRB1 typing was carried out at allele group level (DRB1*01-DRB1*16) by sequence specific primers. Human leukocyte antigen DRB1 type was determined by agarose gel electrophoresis and results were recorded. Frequencies were determined as number of an allele divided by total number of alleles per group; p-value was computed using Pearson's chi-square test. Among the 100 patients, there were 63 males and 37 females with 68 controls. A total of 13 different HLA DRB1 alleles were detected, with DRB1*15 being the commonest in both the groups. The allele DRB1*13 had statistically significant higher frequency in patient group as compared to controls (p 0.005). HLA DRB1*13 was found with a significantly increased frequency in non-insulin dependent Diabetes mellitus. (author)

  20. A Novel Study and Meta-Analysis of the Genetic Variation of the Serotonin Transporter Promoter in the Italian Population Do Not Support a Large Effect on Alzheimer's Disease Risk

    Directory of Open Access Journals (Sweden)

    Letizia Polito

    2011-01-01

    Full Text Available Alzheimer’s disease (AD is a neurodegenerative disorder whose clinical onset is mainly characterized by memory loss. During AD progression, behavioral and psychological symptoms of dementia (BPSD frequently occur. In this paper we evaluated the association between AD and the short/long (S/L functional polymorphism of the promoter region of the 5-hydroxytryptamine (5-HT transporter gene (SLC6A4. The S-allele shows a 2-fold reduced transcriptional rate, causing an imbalance in 5-HT intracellular availability that might in turn trigger behavioral and cognitive alterations. We also genotyped the SLC6A4 promoter functional variant rs25531 (A→G. By comparing the genotypic and allelic frequencies in an Italian population of 235 AD and 207 controls, we found an association between 5-HTTLPR and AD (odds ratio for the L-allele versus the S-allele: 0.74, associated P value = .03, while no difference was found for the rs25531. A meta-analysis of studies in Italy assessing 5-HTTLPR and AD risk gave an estimation of odds ratio for the L-allele versus the S-allele of 0.85 (associated P value = .08. Overall, our findings are not supportive of a large genetic effect of the explored polymorphisms on AD risk.

  1. Determination of DQB1 alleles using PCR amplification and allele-specific primers.

    Science.gov (United States)

    Lepage, V; Ivanova, R; Loste, M N; Mallet, C; Douay, C; Naoumova, E; Charron, D

    1995-10-01

    Molecular genotyping of HLA class II genes is commonly carried out using polymerase chain reaction (PCR) in combination with sequence-specific oligotyping (PCR-SSO) or a combination of the PCR and restriction fragment length polymorphism methods (PCR-RFLP). However, the identification of the DQB1 type by PCR-SSO and PCR-RFLP is very time-consuming which is disadvantageous for the typing of cadaveric organ donors. We have developed a DQB1 typing method using PCR in combination with allele-specific amplification (PCR-ASA), which allows the identification of the 17 most frequent alleles in one step using seven amplification mixtures. PCR allele-specific amplification HLA-DQB1 typing is easy to perform, and the results are easy to interpret in routine clinical practice. The PCR-ASA method is therefore better suited to DQB1 typing for organ transplantation than other methods.

  2. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Mulligan, Anna Marie; Couch, Fergus J; Barrowdale, Daniel;

    2011-01-01

    ABSTRACT: INTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtype...

  3. The man-made creators of the imbalance of water in Nature

    Science.gov (United States)

    Shlafman, L. M.; Kontar, V. A.

    2013-12-01

    At 2011 we have described the imbalance of water in Nature as the system [1]. At 2012 we have described water and carbon and the glaciers [2], [3] as creators of the imbalance of Nature. Now we are describing some man-made creators of the imbalance of Nature. The photosynthesis is a powerful creator of the imbalance of Nature. The photosynthesis significantly increases the complexity of the structures and reduces the entropy. Earth's hydrosphere contains water less than it was flowed via photosynthesis. This is an example of the imbalance of involving when the return of water has delayed because water is involved into the processes of life and other processes. People widely use photosynthesis and create not only an additional man-made imbalance of water in Nature, but also the man-made changing the albedo, and a lot of other important parameters of the planet of Earth. All of these processes are significantly imbalanced. The fossil hydrocarbons have accumulated during millions of years, but now are burned. This is an example of the imbalance delay by time. The man-made burning of the hydrocarbons is creating the imbalances of impact or explosive type, because of the burning processes is in millions of times faster than the accumulation processes. Please pay attention to the imbalance of redeployment by places. For example, oil and gas are extracted in one places, and burned in others. During combustion is standing out not only water, but energy, and other components. The temperature in the centers of big cities is always higher and there is dominating the rising air. It pollutes the environment, changes circulations, create greenhouse effect, etc. Other examples of the imbalance of relocation are shown in the production and consumption of food. The irrigation systems transfer water from one place to another. This transfer of water creates a lot of imbalances in change climate, ecosystems, etc in places where water was took and where the water was brought. Usually

  4. Probing Nuclear Effects at the T2K Near Detector Using Single-Transverse Kinematic Imbalance

    CERN Document Server

    Dolan, Stephen; Pickering, Luke; Vladisavljevic, Tomislav; Weber, Alfons

    2016-01-01

    In order to make precision measurements of neutrino oscillations using few-GeV neutrino beams a detailed understanding of nuclear effects in neutrino scattering is essential. Recent studies have revealed that single-transverse kinematic imbalance (STKI), defined in the plane transverse to an incoming neutrino beam, can act as a unique probe of these nuclear effects. This work first illustrates that an exclusive measurement of STKI at the off-axis near detector of the T2K experiment (ND280) is expected to distinguish the presence of multi-nucleon correlations producing a two proton final state (2p-2h) from alterations of the predominant underlying cross-section parameter ($M_A$ - the nucleon axial mass). Such a measurement is then demonstrated with fake data, showing substantial nuclear model separation potential.

  5. Does equity sensitivity moderate the relationship between effort-reward imbalance and burnout.

    Science.gov (United States)

    Oren, Lior; Littman-Ovadia, Hadassah

    2013-01-01

    The model of effort-reward imbalance (ERI) received considerable research attention in the job stress literature. However, very scarce research investigated individual differences as moderators between ERI and stress. The present study is aimed at examining the combined effects of ERI, overcommitment (OVC), and the interaction between ERI and overcommitment on burnout (i.e., emotional exhaustion, cynicism, and inefficacy) and the moderating role of equity sensitivity. A questionnaire measuring ERI, burnout, and equity sensitivity was administered to 159 employees. Regression analyses were conducted to test the proposed relations and moderating hypotheses. ERI was negatively related to inefficacy and overcommitment was positively related to emotional exhaustion and cynicism. In addition, equity sensitivity was found to moderate the effect of overcommitment on emotional exhaustion and inefficacy. The findings emphasize the detrimental effect overcommitment may have on employee's mental health and suggest that the ERI model components may be closely related to perceptions of organizational justice. PMID:23286362

  6. Pension system in Romania. Long term imbalances and inconsistent policies

    Directory of Open Access Journals (Sweden)

    Ph. D. Associate Professor Razvan Papuc

    2012-05-01

    Full Text Available Public policies on retirement, both in Romania and in other EU countries, have been and still are conditioned by numerous short-term budgetary constaints and by long term major sustainability problems. Alongside objective, demographic developments known in all European countries , support systems for the elderly are facing numerous constraints, both due to government policies marked by fiscal indiscipline and lack of consistency of decisions and, hence, credibility phenomena caused by the phenomenon "the captive politician of a redistributive policy model". Modeling support institutions for pensioners by political actors was most of the times the expression of elections marked by Weberian instrumental rationality and not by wertrationalitat, using the axiom- guide for the behaviour of decision markers to "meet social interests in order to come to power" and not by the concern for a more long term efficient trans-redistributive approach. This paper aims to pursue the most important imbalances that chartacterize the public pension system in Romania, expression of decisions determined by aggregating in group individual preferences and noy by both rational and ethical analysis without redistribution centres.

  7. EMPIRICAL ANALYSIS OF EMPLOYEES WITH TERTIARY EDUCATION OCCUPATIONAL IMBALANCES

    Directory of Open Access Journals (Sweden)

    Andrei B. Ankudinov

    2013-01-01

    Full Text Available High percentage of graduates (among the highest in the world with university degrees combined with unacceptably low level of utilization of acquired qualifications and generally low quality of education in the majority of Russian universities result in huge structural imbalances. The article presents quantitative estimates of disproportions between the educational levels of employees with higher education and their professional occupation for different branches of economy. A logit models based analysis is performed of how much the professional functions performed by employees match their professional qualifications, levels of education and the extent to which their previously acquired expertise and skills are put into use. The sample used represents working population of Russia with tertiary education. The results obtained allow to the conclusion that worst disproportions between education levels attained and job requirements are observed in trade and services sector, transport and communications, housing and utilities, consumer goods and food industries. The matters are compounded by inert and informationally inefficient labor market, incapable of sending proper signals to national system of tertiary education.

  8. Diagnosis of nutrient imbalances with vector analysis in agroforestry systems.

    Science.gov (United States)

    Isaac, Marney E; Kimaro, Anthony A

    2011-01-01

    Agricultural intensification has had unintended environmental consequences, including increased nutrient leaching and surface runoff and other agrarian-derived pollutants. Improved diagnosis of on-farm nutrient dynamics will have the advantage of increasing yields and will diminish financial and environmental costs. To achieve this, a management support system that allows for site-specific rapid evaluation of nutrient production imbalances and subsequent management prescriptions is needed for agroecological design. Vector diagnosis, a bivariate model to depict changes in yield and nutritional response simultaneously in a single graph, facilitates identification of nutritional status such as growth dilution, deficiency, sufficiency, luxury uptake, and toxicity. Quantitative data from cocoa agroforestry systems and pigeonpea intercropping trials in Ghana and Tanzania, respectively, were re-evaluated with vector analysis. Relative to monoculture, biomass increase in cocoa ( L.) under shade (35-80%) was accompanied by a 17 to 25% decline in P concentration, the most limiting nutrient on this site. Similarly, increasing biomass with declining P concentrations was noted for pigeonpea [ (L). Millsp.] in response to soil moisture availability under intercropping. Although vector analysis depicted nutrient responses, the current vector model does not consider non-nutrient resource effects on growth, such as ameliorated light and soil moisture, which were particularly active in these systems. We revisit and develop vector analysis into a framework for diagnosing nutrient and non-nutrient interactions in agroforestry systems. Such a diagnostic technique advances management decision-making by increasing nutrient precision and reducing environmental issues associated with agrarian-derived soil contamination.

  9. Biomedical Implications of Heavy Metals Induced Imbalances in Redox Systems

    Directory of Open Access Journals (Sweden)

    Bechan Sharma

    2014-01-01

    Full Text Available Several workers have extensively worked out the metal induced toxicity and have reported the toxic and carcinogenic effects of metals in human and animals. It is well known that these metals play a crucial role in facilitating normal biological functions of cells as well. One of the major mechanisms associated with heavy metal toxicity has been attributed to generation of reactive oxygen and nitrogen species, which develops imbalance between the prooxidant elements and the antioxidants (reducing elements in the body. In this process, a shift to the former is termed as oxidative stress. The oxidative stress mediated toxicity of heavy metals involves damage primarily to liver (hepatotoxicity, central nervous system (neurotoxicity, DNA (genotoxicity, and kidney (nephrotoxicity in animals and humans. Heavy metals are reported to impact signaling cascade and associated factors leading to apoptosis. The present review illustrates an account of the current knowledge about the effects of heavy metals (mainly arsenic, lead, mercury, and cadmium induced oxidative stress as well as the possible remedies of metal(s toxicity through natural/synthetic antioxidants, which may render their effects by reducing the concentration of toxic metal(s. This paper primarily concerns the clinicopathological and biomedical implications of heavy metals induced oxidative stress and their toxicity management in mammals.

  10. Changes in global net radiative imbalance 1985–2012

    Science.gov (United States)

    Allan, Richard P; Liu, Chunlei; Loeb, Norman G; Palmer, Matthew D; Roberts, Malcolm; Smith, Doug; Vidale, Pier-Luigi

    2014-01-01

    Combining satellite data, atmospheric reanalyses, and climate model simulations, variability in the net downward radiative flux imbalance at the top of Earth's atmosphere (N) is reconstructed and linked to recent climate change. Over the 1985–1999 period mean N (0.34 ± 0.67 Wm−2) is lower than for the 2000–2012 period (0.62 ± 0.43 Wm−2, uncertainties at 90% confidence level) despite the slower rate of surface temperature rise since 2000. While the precise magnitude of N remains uncertain, the reconstruction captures interannual variability which is dominated by the eruption of Mount Pinatubo in 1991 and the El Niño Southern Oscillation. Monthly deseasonalized interannual variability in N generated by an ensemble of nine climate model simulations using prescribed sea surface temperature and radiative forcings and from the satellite-based reconstruction is significantly correlated (r∼0.6) over the 1985–2012 period. PMID:25821270

  11. Autoimmune disease classification by inverse association with SNP alleles.

    Directory of Open Access Journals (Sweden)

    Marina Sirota

    2009-12-01

    Full Text Available With multiple genome-wide association studies (GWAS performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction of allele-specific disease associations for SNPs. In this work, we refine the notion of a genetic variation profile for a given disease to capture strength of association with multiple SNPs in an allele-specific fashion. We apply this method to compare genetic variation profiles of six autoimmune diseases: multiple sclerosis (MS, ankylosing spondylitis (AS, autoimmune thyroid disease (ATD, rheumatoid arthritis (RA, Crohn's disease (CD, and type 1 diabetes (T1D, as well as five non-autoimmune diseases. We quantify pair-wise relationships between these diseases and find two broad clusters of autoimmune disease where SNPs that make an individual susceptible to one class of autoimmune disease also protect from diseases in the other autoimmune class. We find that RA and AS form one such class, and MS and ATD another. We identify specific SNPs and genes with opposite risk profiles for these two classes. We furthermore explore individual SNPs that play an important role in defining similarities and differences between disease pairs. We present a novel, systematic, cross-platform approach to identify allele-specific relationships between disease pairs based on genetic variation as well as the individual SNPs which drive the relationships. While recognizing similarities between diseases might lead to identifying novel treatment options, detecting differences between diseases previously thought to be similar may point to key novel disease-specific genes and pathways.

  12. Allelic Diversity of MSP1 Gene in Plasmodium falciparum from Rural and Urban Areas of Gabon.

    Science.gov (United States)

    Mawili-Mboumba, Denise Patricia; Mbondoukwe, Noé; Adande, Elvire; Bouyou-Akotet, Marielle Karine

    2015-08-01

    The present study determined and compared the genetic diversity of Plasmodium falciparum strains infecting children living in 2 areas from Gabon with different malaria endemicity. Blood samples were collected from febrile children from 2008 to 2009 in 2 health centres from rural (Oyem) and urban (Owendo) areas. Genetic diversity was determined in P. falciparum isolates by analyzing the merozoite surface protein-1 (msp1) gene polymorphism using nested-PCR. Overall, 168 children with mild falciparum malaria were included. K1, Ro33, and Mad20 alleles were found in 110 (65.5%), 94 (55.9%), and 35 (20.8%) isolates, respectively, without difference according to the site (P>0.05). Allelic families' frequencies were comparable between children less than 5 years old from the 2 sites; while among the older children the proportions of Ro33 and Mad20 alleles were 1.7 to 2.0 fold higher at Oyem. Thirty-three different alleles were detected, 16 (48.5%) were common to both sites, and 10 out of the 17 specific alleles were found at Oyem. Furthermore, multiple infection carriers were frequent at Oyem (57.7% vs 42.2% at Owendo; P=0.04) where the complexity of infection was of 1.88 (±0.95) higher compared to that found at Owendo (1.55±0.75). Extended genetic diversity of P. falciparum strains infecting Gabonese symptomatic children and high multiplicity of infections were observed in rural area. Alleles common to the 2 sites were frequent; the site-specific alleles predominated in the rural area. Such distribution of the alleles should be taken into accounts when designing MSP1 or MSP2 malaria vaccine.

  13. Identification and molecular mechanism study of a case with B(A)02 allele%1例B(A)02等位基因的鉴定及分子机制研究

    Institute of Scientific and Technical Information of China (English)

    邱丽; 么楠; 苗温; 邹伟; 蔡晓红

    2016-01-01

    Objective To identify and investigate B(A)02 allele in a patient. Methods Serological tests were performed with standard serological methods in a patient with B(A)02 allele. DNA sequences of all seven exons and exon-intron boundaries of ABO gene were analyzed by polymerase chain reaction (PCR), direct DNA sequencing and sequencing after gene cloning. In order to analyze the allele, PyMOL software was used to establish 3D model of Glycosyltransferases B (GTB). Results The serological results showed the characteristics of B(A) phenotype. DNA analysis revealed that ABO gene of the individual was heterozygous of B(A)02/O01 allele. 700C>G mutation was identified in B101 allele, which resulted in the amino acid substitution P234A in GTB. Through the analysis of the 3D structure of GTB, it was speculated that the P234A replacement affected the intermolecular forces of the 234 amino acid and Met-266, thus changed the conformation of the donor-binding pocket of GTB,that made GTB capable of recognizing and tranferring the GalNac to the H antigen, which can lead to the formation of the weak A antigen on membrane of red blood cells. Conclusion The P234A replacement can affect the spatial conformation of the specific recognition region conformed by Met-266 and Ala-268 residues, which leads to the antigenicity change of the ABO blood group.%目的: B(A)02等位基因的鉴定及分子机制的研究。方法对1例B(A)02等位基因者ABO血清学定型使用标准血清学实验方法,对ABO基因7个外显子及其侧翼序列做PCR扩增、基因克隆和测序分析;使用PyMOL软件建立B糖基转移酶(GTB)的空间模型并进行分析。结果血清学检测结果符合B(A)亚型特点,DNA克隆和测序分析显示被检者为B(A)02/O01杂交基因,在B101等位基因上存在700C>G错义突变,导致GTB发生P234A氨基酸置换。通过对GTB空间结构的分析,认为P234A置换影响了第234位氨基酸与Met-266的分子间作

  14. Adverse drug events associated with vitamin K antagonists: factors of therapeutic imbalance

    Directory of Open Access Journals (Sweden)

    El-Helou N

    2013-03-01

    Full Text Available Nancy El-Helou, Amal Al-Hajje, Rola Ajrouche, Sanaa Awada, Samar Rachidi, Salam Zein, Pascale SalamehClinical and Epidemiological Research Laboratory, Faculty of Pharmacy, Lebanese University, Beirut, LebanonBackground: Adverse drug events (ADE occur frequently during treatment with vitamin K antagonists (AVK and contribute to increase hemorrhagic risks.Methods: A retrospective study was conducted over a period of 2 years. Patients treated with AVK and admitted to the emergency room of a tertiary care hospital in Beirut were included. The aim of the study was to identify ADE characterized by a high international normalized ratio (INR and to determine the predictive factors responsible for these events. Statistical analysis was performed with the SPSS statistical package.Results: We included 148 patients. Sixty-seven patients (47.3% with an INR above the therapeutic range were identified as cases. The control group consisted of 81 patients (54.7% with an INR within the therapeutic range. Hemorrhagic complications were observed in 53.7% of cases versus 6.2% of controls (P < 0.0001. No significant difference was noticed between cases and controls regarding the indication and the dose of AVK. Patients aged over 75 years were more likely to present an INR above the therapeutic range (58.2%, P = 0.049. Recent infection was present in 40.3% of cases versus 6.2% of controls (P < 0.0001 and hypoalbuminemia in 37.3% of cases versus 6.1% of controls (P < 0.0001. Treatment with antibiotics, amiodarone, and anti-inflammatory drugs were also factors of imbalance (P < 0.0001.Conclusion: Many factors may be associated with ADE related to AVK. Monitoring of INR and its stabilization in the therapeutic range are important for preventing these events.Keywords: adverse drug events, vitamin K antagonists, bleeding risks, therapeutic imbalance

  15. Agmatine abolishes restraint stress-induced depressive-like behavior and hippocampal antioxidant imbalance in mice.

    Science.gov (United States)

    Freitas, Andiara E; Bettio, Luis E B; Neis, Vivian B; Santos, Danúbia B; Ribeiro, Camille M; Rosa, Priscila B; Farina, Marcelo; Rodrigues, Ana Lúcia S

    2014-04-01

    Agmatine has been recently emerged as a novel candidate to assist the conventional pharmacotherapy of depression. The acute restraint stress (ARS) is an unavoidable stress situation that may cause depressive-like behavior in rodents. In this study, we investigated the potential antidepressant-like effect of agmatine (10mg/kg, administered acutely by oral route) in the forced swimming test (FST) in non-stressed mice, as well as its ability to abolish the depressive-like behavior and hippocampal antioxidant imbalance induced by ARS. Agmatine reduced the immobility time in the mouse FST (1-100mg/kg) in non-stressed mice. ARS caused an increase in the immobility time in the FST, indicative of a depressive-like behavior, as well as hippocampal lipid peroxidation, and an increase in the activity of hippocampal superoxide dismutase (SOD), glutathione peroxidase (GPx) and glutathione reductase (GR) activities, reduced catalase (CAT) activity and increased SOD/CAT ratio, an index of pro-oxidative conditions. Agmatine was effective to abolish the depressive-like behavior induced by ARS and to prevent the ARS-induced lipid peroxidation and changes in SOD, GR and CAT activities and in SOD/CAT activity ratio. Hippocampal levels of reduced glutathione (GSH) were not altered by any experimental condition. In conclusion, the present study shows that agmatine was able to abrogate the ARS-induced depressive-like behavior and the associated redox hippocampal imbalance observed in stressed restraint mice, suggesting that its antidepressant-like effect may be dependent on its ability to maintain the pro-/anti-oxidative homeostasis in the hippocampus.

  16. HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies.

    Science.gov (United States)

    Koffman, B M; Sivakumar, K; Simonis, T; Stroncek, D; Dalakas, M C

    1998-04-15

    We studied the HLA class II associations in patients with sporadic inclusion body myositis (s-IBM) and hereditary inclusion body myopathies (h-IBM) and attempted to distinguish these myopathies on the basis of HLA allele assignments. Forty-five patients, 30 with s-IBM and 15 with h-IBM, underwent HLA class II allele-specific typing using polymerase chain reaction sequence-specific primers for 71 alleles contained in the DRbeta1, DRbeta3-5, and DQbeta1 loci. In s-IBM, we found a high (up to 77%) frequency of DRbeta1*0301, DRbeta3*0101 (or DRbeta3*0202) and DQbeta1*0201 alleles. No significant association with alleles in the DR and DQ haplotypes was found among the 15 h-IBM patients. The strong association of prominent alleles with s-IBM, but not h-IBM, suggests that s-IBM is a distinct disorder with an immunogenetic background that differs from h-IBM.

  17. Imbalance of Nature due to Anthropogenic Activities in the Bay of Bacorehuis, Sinaloa, Mexico

    Science.gov (United States)

    Torrecillas Nunez, C.; Cárdenas Cota, H.

    2013-05-01

    Pollution is further enhancing water scarcity by reducing water usability downstream, globally the most prevalent water quality problem is eutrophication, a result of high-nutrient loads, which substantially impairs beneficial uses of water. Projected food production needs and increasing wastewater effluents associated with an increasing population over the next three decades suggest a 10%-15% increase in the river input of nitrogen loads into coastal ecosystems (UNO, 2009). Our study in the Bay of Bacorehuis in the State of Sinaloa, which was carried out due to a request from local fishermen who wanted to find out the reason for fishing stocks depletion, confirmed this trend with the consequent imbalance of nature. Sinaloa depends heavily on intensive agricultural production to support its economy which in turn relies on water irrigation and the application of agro-chemicals. The research project included a desk top study of geophysical and environmental factors as well as sampling and testing of the water. In addition we carried out socio-economic research to find out the impact on the local community of the imbalance caused by anthropogenic activities in the watershed upstream from the Bay. Our research established that the Bay of Bacorehuis is contaminated by organic matter, bacteria coliforms, pesticides and mercury due to the discharge of surplus runoff generated by irrigation of farmlands into drainage networks as well as the discharge of untreated industrial and domestic wastewater form more than 24,000 inhabitants. The main contaminants detected in the water bodies were organic matter, faecal coliforms, mercury, dimethoate, endosulfan, heptachlor, DDE, DDT, organonitrogen, synthetic pyrethroid, chlorothalonil, ethion, endosulfan, diazinon, malathion and chlorpyrifos. Contaminants in sediments included the pesticides endosulfan, heptachlor, DDE, DDT, organophosphates, organonitrogen and synthetic pyrethroids. Natural water courses have been highly modified

  18. Differences in the ability to suppress interferon β production between allele A and allele B NS1 proteins from H10 influenza A viruses

    Directory of Open Access Journals (Sweden)

    Zohari Siamak

    2010-12-01

    Full Text Available Abstract Background In our previous study concerning the genetic relationship among H10 avian influenza viruses with different pathogenicity in mink (Mustela vison, we found that these differences were related to amino acid variations in the NS1 protein. In this study, we extend our previous work to further investigate the effect of the NS1 from different gene pools on type I IFN promoter activity, the production of IFN-β, as well as the expression of the IFN-β mRNA in response to poly I:C. Results Using a model system, we first demonstrated that NS1 from A/mink/Sweden/84 (H10N4 (allele A could suppress an interferon-stimulated response element (ISRE reporter system to about 85%. The other NS1 (allele B, from A/chicken/Germany/N/49 (H10N7, was also able to suppress the reporter system, but only to about 20%. The differences in the abilities of the two NS1s from different alleles to suppress the ISRE reporter system were clearly reflected by the protein and mRNA expressions of IFN-β as shown by ELISA and RT-PCR assays. Conclusions These studies reveal that different non-structural protein 1 (NS1 of influenza viruses, one from allele A and another from allele B, show different abilities to suppress the type I interferon β expression. It has been hypothesised that some of the differences in the different abilities of the alleles to suppress ISRE were because of the interactions and inhibitions at later stages from the IFN receptor, such as the JAK/STAT pathway. This might reflect the additional effects of the immune evasion potential of different NS1s.

  19. Peripheral T lymphocyte subset imbalances in children with enterovirus 71-induced hand, foot and mouth disease.

    Science.gov (United States)

    Li, Shuxian; Cai, Chunyan; Feng, Jinyan; Li, Xuejing; Wang, Yingshuo; Yang, Jun; Chen, Zhimin

    2014-02-13

    Inflammatory mediators (i.e. cytokines) play a pivotal role in the regulation of pathophysiological processes during EV71-induced hand, foot and mouth disease (HFMD). Different T cell subsets have distinct cytokine secretion profiles, and alteration in the T cell subsets frequency (imbalance) during infection leads to changed cytokine patterns. However, the effects of EV71 infection on T cell subsets were not clear. The objective of this study was to determine whether EV71-induced HFMD can be explained by the emergence of particular T-cell subsets (Th1, Th2, Tc1, Tc2, Th17, Tc17 and Treg cells) and the cytokine they produced (IFN-γ, IL-4, IL-17A and TGF-β1), as well as distinct responses to EV71 infection. We found that when compared to the control group, the percentage of Th1 and Tc1 cells was significantly higher in mild and severe HFMD group. Similar results were found in the Th1/Th2 ratio and IFN-γ levels. On the other hand, the percentage of Th17 cells and IL-17A levels were the highest in severe HFMD cases, and lowest in controls. Similar trend was also found for the Th17/Treg cell ratio. An optimal cutoff value of 2.15% for Th17 cell and 6.72 pg/ml for IL-17A provided a discriminatory value for differentiating the severity of HFMD cases by receiver operating characteristic curve analyses. These findings reveal that the Th1/Th2 and Th17/Treg imbalance exist in HFMD patients, suggesting their involvement in the pathogenesis of EV71 infection, which may have potential value as biomarkers. PMID:24316007

  20. Hyperbaric oxygen therapy of angiopathic changes in patients with inherited gene imbalance

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    Brkić Predrag

    2007-01-01

    Full Text Available Introduction Phenotype match inherited by genes is in most cases present in monozygotic twins. Their phenotypic resemblance is unfortunately characterized by strong susceptibility for the development of chronic non-infectious diseases. One of the most common non-infectious chronic diseases that are phenotipically represented in twins is diabetes mellitus. Genetic imbalance is, in most cases, placed in 2, 3, 7, 8, 11, 12, 19 and 20 chromosomal pair of the human genome. CASE OUTLINE This study describes a pair of monozygotic twins, aged 54, who were diagnosed for diabetes type 2 ten years earlier. The first patient had trophic changes of muscles and skin tissues of the lower limb, and a necrotic wound on his right leg tibial region with the claudication distance of 50 m. After arteriography, he was referred by a vascular surgeon for hyperbaric oxygen therapy (HBO. HBO protocol implied 70 min. application of 100% oxygen at 2.5 absolute atmospheres. After the first series of HBO therapies consisting of 20 HBO treatments, claudication was eliminated and the necrotic wound healed. Next, surgical aortofemoral bypass was done. During the second HBO treatment, his monozygotic twin brother presented with angiopathic changes due to diabetes. In both patients, biochemical parameters corresponded to the expected level for diabetes type 2 imbalance, and the localization of the chromosomal defect (placed on 3, 11 and 19 chromosomal pair was also in accordance with the respective disorder. After they were included into next 10 HBO treatments, Doppler imaging of the major arteries of limbs revealed normal findings. Conclusion Identical genetic impairment in monozygotic twins can lead to identical somatic changes with resultant consequences. HBO treatment of such patients associated with other therapeutic procedures (conducted by diabetologist, vascular surgeon and physiatrist can postpone or prevent irreversible changes occurring due to blood vessel disorders.

  1. Sources and implications of NADH/NAD+ redox imbalance in diabetes and its complications

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    Wu J

    2016-05-01

    Full Text Available Jinzi Wu,1Zhen Jin,1Hong Zheng,1,2Liang-Jun Yan1 1Department of Pharmaceutical Sciences, UNT System College of Pharmacy, University of North Texas Health Science Center, Fort Worth, TX, USA; 2Department of Basic Theory of Traditional Chinese Medicine, College of Basic Medicine, Shandong University of Traditional Chinese Medicine, Jinan, People’s Republic of China Abstract: NAD+ is a fundamental molecule in metabolism and redox signaling. In diabetes and its complications, the balance between NADH and NAD+ can be severely perturbed. On one hand, NADH is overproduced due to influx of hyperglycemia to the glycolytic and Krebs cycle pathways and activation of the polyol pathway. On the other hand, NAD+ can be diminished or depleted by overactivation of poly ADP ribose polymerase that uses NAD+ as its substrate. Moreover, sirtuins, another class of enzymes that also use NAD+ as their substrate for catalyzing protein deacetylation reactions, can also affect cellular content of NAD+. Impairment of NAD+ regeneration enzymes such as lactate dehydrogenase in erythrocytes and complex I in mitochondria can also contribute to NADH accumulation and NAD+ deficiency. The consequence of NADH/NAD+ redox imbalance is initially reductive stress that eventually leads to oxidative stress and oxidative damage to macromolecules, including DNA, lipids, and proteins. Accordingly, redox imbalance-triggered oxidative damage has been thought to be a major factor contributing to the development of diabetes and its complications. Future studies on restoring NADH/NAD+ redox balance could provide further insights into design of novel antidiabetic strategies. Keywords: mitochondria, complex I, reactive oxygen species, polyol pathway, poly ADP ribosylation, sirtuins, oxidative stress, oxidative damage

  2. Lymphocyte Redox Imbalance and Reduced Proliferation after a Single Session of High Intensity Interval Exercise

    Science.gov (United States)

    Tossige-Gomes, Rosalina; Costa, Karine Beatriz; Ottone, Vinícius de Oliveira; Magalhães, Flávio de Castro; Amorim, Fabiano Trigueiro; Rocha-Vieira, Etel

    2016-01-01

    This study investigated whether an acute session of high-intensity interval training (HIIT) is sufficient to alter lymphocyte function and redox status. Sixteen young healthy men underwent a HIIT session on a cycloergometer, consisting of eight bouts of 1 min at 90–100% of peak power, with 75 seconds of active recovery at 30 W between bouts. Venous blood was collected before, immediately after, and 30 minutes after the HIIT session. In response to Staphylococcus aureus superantigen B (SEB) stimulation, lymphocyte proliferation decreased and the IL-2 concentration increased after the HIIT session. However, the HIIT session had no effect on lymphocyte proliferation or IL-2 response to phytohemagglutinin stimulation. The HIIT session also induced lymphocyte redox imbalance, characterized by an increase in the concentration of thiobarbituric acid reactive substances and a decrease in the activity of the antioxidant enzyme catalase. Lymphocyte viability was not affected by the HIIT session. The frequencies of CD25+ and CD69+ T helper and B lymphocytes in response to superantigen stimulation were lower after exercise, suggesting that superantigen-induced lymphocyte activation was reduced by HIIT. However, HIIT also led to a reduction in the frequency of CD4+ and CD19+ cells, so the frequencies of CD25+ and CD69+ cells within the CD4 and CD19 cell populations were not affected by HIIT. These data indicate that the reduced lymphocyte proliferation observed after HIIT is not due to reduced early lymphocyte activation by superantigen. Our findings show that an acute HIIT session promotes lymphocyte redox imbalance and reduces lymphocyte proliferation in response to superantigenic, but not to mitogenic stimulation. This observation cannot be explained by alteration of the early lymphocyte activation response to superantigen. The manner in which lymphocyte function modulation by an acute HIIT session can affect individual immunity and susceptibility to infection is important

  3. Imbalance of Nature due to Contaminant Loads in the Culiacan River Watershed, Sinaloa, México

    Science.gov (United States)

    García Páez, F.; Ley-Aispuro, E.

    2013-05-01

    The Culiacan River discharges runoff from a large agricultural watershed into the wetlands at Ensenada de Pabellones ranked as a priority marine region of Mexico due to its high biodiversity and the economic importance of its fishing resources. This research estimated potential contaminant loads for BOD5, TSS, N and P from stormwater runoff and associated land use in the watershed. Previous studies had demonstrated the imbalance of nature due to land use change causing contamination by heavy metals, pesticides, sediment, phosphorus and eutrophication (Lopez and Osuna, 2002; Green and Paez, 2004, Gonzalez et al., 2006; Osuna et al., 2007). The methodology included: Characterizing the watershed according to land use, soil, vegetation, annual runoff and population density by sub-watershed; estimating the potential contaminant load and annual average concentrations of contaminants using the PLOAD program, comparing the result with monitored contaminant concentrations; and identifying the impact of pollutant loads in the watershed and coastal ecosystems and proposing management strategies to reduce or reverse the imbalance of nature caused by contamination in the Culiacan River watershed. Calculated contaminant loads in tonne/year were 13,682.4 of BOD5; 503,621.8 of TSS; 5,975.7 of N and 1,789.1 of P. The Tamazula and Humaya rivers watersheds provide 72% of the total load of BOD5, 68.5% of TSS, 77.6% of N and 62.7% of P discharged to the wetlands. Monitored results include: 89% of temperature observations were above 21°C, which is stressful to aquatic life due to a subsequent decrease in dissolved oxygen; 100% of the observations of P exceeded the ecological criteria for water quality; 71.5% of the observations for DO from 2001 to 2011, were above the ecological criteria for protection of aquatic life and 91.5% met the criteria for use in drinking water; 100% of the observations for BOD5 values remained in the range of Excellent to Good; 22% of the observations for the

  4. Carbon and nutrient use efficiencies optimally balance stoichiometric imbalances

    Science.gov (United States)

    Manzoni, Stefano; Čapek, Petr; Lindahl, Björn; Mooshammer, Maria; Richter, Andreas; Šantrůčková, Hana

    2016-04-01

    Decomposer organisms face large stoichiometric imbalances because their food is generally poor in nutrients compared to the decomposer cellular composition. The presence of excess carbon (C) requires adaptations to utilize nutrients effectively while disposing of or investing excess C. As food composition changes, these adaptations lead to variable C- and nutrient-use efficiencies (defined as the ratios of C and nutrients used for growth over the amounts consumed). For organisms to be ecologically competitive, these changes in efficiencies with resource stoichiometry have to balance advantages and disadvantages in an optimal way. We hypothesize that efficiencies are varied so that community growth rate is optimized along stoichiometric gradients of their resources. Building from previous theories, we predict that maximum growth is achieved when C and nutrients are co-limiting, so that the maximum C-use efficiency is reached, and nutrient release is minimized. This optimality principle is expected to be applicable across terrestrial-aquatic borders, to various elements, and at different trophic levels. While the growth rate maximization hypothesis has been evaluated for consumers and predators, in this contribution we test it for terrestrial and aquatic decomposers degrading resources across wide stoichiometry gradients. The optimality hypothesis predicts constant efficiencies at low substrate C:N and C:P, whereas above a stoichiometric threshold, C-use efficiency declines and nitrogen- and phosphorus-use efficiencies increase up to one. Thus, high resource C:N and C:P lead to low C-use efficiency, but effective retention of nitrogen and phosphorus. Predictions are broadly consistent with efficiency trends in decomposer communities across terrestrial and aquatic ecosystems.

  5. The Burden of JAK2V617F Mutated Allele in Turkish Patients With Myeloproliferative Neoplasms

    Science.gov (United States)

    Yonal-Hindilerden, Ipek; Daglar-Aday, Aynur; Akadam-Teker, Basak; Yilmaz, Ceylan; Nalcaci, Meliha; Yavuz, Akif Selim; Sargin, Deniz

    2015-01-01

    Background Studies regarding the impact of JAK2V617F allele burden on phenotypic properties and clinical course in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) have reported variable results. We aimed to analyze the association of mutated JAK2V617F allele burden with laboratory characteristics and clinical phenotype in Turkish patients (107 essential thrombocythemia (ET) and 77 primary myelofibrosis (PMF)). Methods Peripheral blood samples of 184 patients with Ph-negative MPNs were analyzed for JAK2V617F allele status and burden. JAK2 MutaScreen assay (Ipsogen, Luminy Biotech, Marseille, France) was used to detect the JAK2V617F status and quantitative JAK2V617F allele burdens in genomic DNA using TaqMan allelic discrimination. Results Frequency of JAK2V617F-positive patients with high mutation load (allele burden > 50%) was higher in PMF compared to ET (23.4% and 4.7%, respectively; P = 0.001). We found significant association between ET patients with high JAK2V617F allele burden and lower hemoglobin (Hgb) and hematocrit (Hct), higher LDH levels and more prevalent massive splenomegaly (P = 0.001, P = 0.001, P = 0.012 and P = 0.015, respectively). ET patients with high mutation load displayed higher prevalence of bleeding compared to low mutation load and wild-type mutational status (P = 0.003). Rate of DVT was significantly higher in ET patients with mutant allele burden in upper half compared to lower half and wild-type (P = 0.029). We observed significant association between PMF patients with high JAK2V617F allele burden and higher Hgb, Hct levels and leukocyte counts (P = 0.003, P = 0.021 and P = 0.001, respectively). Conclusions Our study demonstrated JAK2V617F allele burden correlates with clinical features in ET and PMF. We conclude quantification of JAK2V617F mutation contributes to the workup of Ph-negative MPNs. PMID:25584101

  6. Mixed allele malaria vaccines: Host protection and within-host selection

    Science.gov (United States)

    Barclay, Victoria C.; Chan, Brian H.K.; Anders, Robin F.; Read, Andrew F.

    2008-01-01

    Malaria parasites are frequently polymorphic at the antigenic targets of many candidate vaccines, presumably as a consequence of selection pressure from protective immune responses. Conventional wisdom is therefore that vaccines directed against a single variant could select for non-target variants, rendering the vaccine useless. Many people have argued that a solution is to develop vaccines containing the products of more than one variant of the target. However, we are unaware of any evidence that multi-allele vaccines better protect hosts against parasites or morbidity. Moreover, selection of antigen-variants is not the only evolution that could occur in response to vaccination. Increased virulence could also be favored if more aggressive strains are less well controlled by vaccine-induced immunity. Virulence and antigenic identity have been confounded in all studies so far, and so we do not know formally from any animal or human studies whether vaccine failure has been due to evasion of protective responses by variants at target epitopes, or whether vaccines are just less good at protecting against more aggressive strains. Using the rodent malaria model Plasmodium chabaudi and recombinant apical membrane antigen-1 (AMA-1), we tested whether a bi-allelic vaccine afforded greater protection from parasite infection and morbidity than did vaccination with the component alleles alone. We also tested the effect of mono- and bi-allelic vaccination on within-host selection of mixed P. chabaudi infections, and whether parasite virulence mediates pathogen titres in immunized hosts. We found that vaccination with the bi-allelic AMA-1 formulation did not afford the host greater protection from parasite infection or morbidity than did mono-allelic AMA-1 immunization. Mono-allelic immunization increased the frequency of heterologous clones in mixed clone infections. There was no evidence that any type of immunization regime favored virulence. A single AMA-1 variant is a

  7. 重庆汉族人群HLA-A、B、DRB1高分辨等位基因多态性研究%Study on HLA-A,B,DRB1 high-resolution alleles polymorphism in Chongqing Han population

    Institute of Scientific and Technical Information of China (English)

    王芳; 黄红莉; 宋正利; 廖群; 黄霞; 张涛; 朱素敏; 廖红梅; 李小红; 程磊; 谭茜茜

    2014-01-01

    Objective To analyze the HLA-A ,B and DRB1 alleles high-resolution polymorphism in Chongqing Han population . Methods The PCR-SSOP and PCR-SBT methods were applied for the HLA high-resolution genotyping of 2 067 unrelated healthy donors in the registry of Chongqing branch of Chinese National Marrow Donor Program (CMDP) .The allele frequencies of HLA-A , B and DRB1 were estimated by the direct counting method and the Hardy-Weinberg equilibrium inspection was performed by using the Arlequin software 3 .1 .Results 168 high-resolution alleles were detected out ,in which 42 alleles of A*11 :01 ,A*24:02 ,A*02:07 ,A*02 :01 and A*33:03 at the HLA-A locus were observed with the frequencies greater than 0 .05 ;81 alleles were detected at HLA-B locus ,including B*46 :01 ,B*40:01 ,B*58 :01 ,B*13 :01 and B*15 :02 with the frequencies greater than 0 .05 ;45 al-leles of DRB1*09:01 ,DRB1*15 :01 ,DRB1*12 :02 ,DRB1*08 :03 and DRB1*11 :01 at the HLA-DR locus were observed with the frequencies greater than 0 .05 .Conclusion The data of the HLA-A ,B and DRB1allelic frequencies at high-resolution level in Chongqing Han population are obtained ,which provides the reliable reference data for the studies of anthropology ,forensic medi-cine ,transplantation matching and disease association .%目的:分析重庆地区汉族人群 HLA-A、B、DRB1在高分辨基因分型水平上多态性及分布特征。方法采用聚合酶链反应-序列特异性寡核苷酸探针(PCR-SSOP)基因分型以及基因序列分型(SBT )技术,对重庆地区2067例无关供者的HLA-A、B、DRB1位点上的等位基因进行高分辨分型,直接计数法计算等位基因频率,应用Arlerquin3.1软件进行Hardy-Wein-berg平衡检验。结果共检出了168种 HLA高分辨等位基因。其中 HLA-A位点42种,频率大于0.05有 A倡11:01,A倡24:02,A倡02:07,A倡02:01,A倡33:03;HLA-B位点81种,频率大于0.05有B倡46:01,B倡40:01,B倡58:01,B倡13

  8. Prediction of HLA class II alleles using SNPs in an African population.

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    Fasil Tekola Ayele

    Full Text Available Despite the importance of the human leukocyte antigen (HLA gene locus in research and clinical practice, direct HLA typing is laborious and expensive. Furthermore, the analysis requires specialized software and expertise which are unavailable in most developing country settings. Recently, in silico methods have been developed for predicting HLA alleles using single nucleotide polymorphisms (SNPs. However, the utility of these methods in African populations has not been systematically evaluated.In the present study, we investigate prediction of HLA class II (HLA-DRB1 and HLA-DQB1 alleles using SNPs in the Wolaita population, southern Ethiopia. The subjects comprised 297 Ethiopians with genome-wide SNP data, of whom 188 had also been HLA typed and were used for training and testing the model. The 109 subjects with SNP data alone were used for empirical prediction using the multi-allelic gene prediction method. We evaluated accuracy of the prediction, agreement between predicted and HLA typed alleles, and discriminative ability of the prediction probability supplied by the model. We found that the model predicted intermediate (two-digit resolution for HLA-DRB1 and HLA-DQB1 alleles at accuracy levels of 96% and 87%, respectively. All measures of performance showed high accuracy and reliability for prediction. The distribution of the majority of HLA alleles in the study was similar to that previously reported for the Oromo and Amhara ethnic groups from Ethiopia.We demonstrate that HLA class II alleles can be predicted from SNP genotype data with a high level of accuracy at intermediate (two-digit resolution in an African population. This finding offers new opportunities for HLA studies of disease epidemiology and population genetics in developing countries.

  9. Novel alleles of 31-bp VNTR polymorphism in the human cystathionine -synthase (CBS) gene were detected in healthy Asians

    Indian Academy of Sciences (India)

    Yik-Yuen Gan; Chuan-Fei Chen

    2010-12-01

    A 31-bp variable number of tandem repeats (VNTR) polymorphism of the cystathionine -synthase (CBS) gene was earlier reported in Caucasians of predominantly European descent and Indo–Caucasoid populations.We report here for the first time, the detection of allele 20, which was absent in Caucasian and Indo–Caucasoid populations, as a common allele present in Singaporean Chinese (6.25%), Indians (11.7%), and Malays (11.5%). Hence, allele 20 might be a specific allele for Asian populations. A relatively common allele 19 found in the Caucasian and Indo–Caucasoid populations (10.4%–10.6%) was absent in the Asian samples of this study. Therefore, allele 19 might be a specific allele for the Caucasian populations. A novel and rare allele 13, which was not reported before in the Caucasian and Indo–Caucasoid populations, was found in 0.5% of Singaporean Chinese as genotype 13/17 heterozygotes. The presence of alleles 13 and 20 were verified by DNA sequencing. There were five new genotypes (13/17, 16/20, 17/20, 18/20 and 20/20) not reported before in the Caucasian and Indo–Caucasoid populations, detected in this study. Nine genotypes (15/18, 16/18, 16/21, 17/19, 18/19, 18/21, 19/19, 19/21 and 21/21) which were present in the Caucasian and/or Indo–Caucasoid populations were absent in this study. Our results showed that CBS 31-bp VNTR polymorphism has a distinct genetic difference in allele and genotype frequencies between the European Caucasians, Indo–Caucasoid and Asian populations.

  10. Ambiguous allele combinations in HLA Class I and Class II sequence-based typing: when precise nucleotide sequencing leads to imprecise allele identification

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    Larsen Paula

    2004-09-01

    Full Text Available Abstract Sequence-based typing (SBT is one of the most comprehensive methods utilized for HLA typing. However, one of the inherent problems with this typing method is the interpretation of ambiguous allele combinations which occur when two or more different allele combinations produce identical sequences. The purpose of this study is to investigate the probability of this occurrence. We performed HLA-A,-B SBT for Exons 2 and 3 on 676 donors. Samples were analyzed with a capillary sequencer. The racial distribution of the donors was as follows: 615-Caucasian, 13-Asian, 23-African American, 17-Hispanic and 8-Unknown. 672 donors were analyzed for HLA-A locus ambiguities and 666 donors were analyzed for HLA-B locus ambiguities. At the HLA-A locus a total of 548 total ambiguous allele combinations were identified (548/1344 = 41%. Most (278/548 = 51% of these ambiguities were due to the fact that Exon 4 analysis was not performed. At the HLA-B locus 322 total ambiguous allele combinations were found (322/1332 = 24%. The HLA-B*07/08/15/27/35/44 antigens, common in Caucasians, produced a large portion of the ambiguities (279/322 = 87%. A large portion of HLA-A and B ambiguous allele combinations can be addressed by utilizing a group-specific primary amplification approach to produce an unambiguous homozygous sequence. Therefore, although the prevalence of ambiguous allele combinations is high, if the resolution of these ambiguities is clinically warranted, methods exist to compensate for this problem.

  11. SNP GENOTYPING BY TAQMAN ALLELE DISCRIMINATION TECHNIQUE

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    Lucian Negura

    2015-07-01

    Full Text Available Breast cancer is the most frequent neoplasm in women worldwide and the principal cause of deaths by cancer, the majority being by metastatic disease. About half of breast tumors are hormone dependent, and in post-menopause women the preferred first line treatment uses third generation aromatase inhibitors. Aromatase is encoded by CYP19 gene on 15q21.1, and there is strong evidence that mutations in this gene affect its expression, with directconsequences on cancer phenotype and response to treatment. Several single nucleotide polymorphisms have beenstudied on CYP19A1 transcription variant, notably rs727479, rs10046, rs4646 and rs700518. We implemented a Taqman-based allele discrimination assay for the rapid investigation of the 4 SNPs in CYP19A1. We genotyped 22 metastaticbreast cancer patients by the technique described.

  12. Simple allele-discriminating PCR for cost-effective and rapid genotyping and mapping

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    Bui Minh

    2009-01-01

    Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs are widely observed between individuals, ecotypes, and species, serving as an invaluable molecular marker for genetic, genomic, ecological and evolutionary studies. Although, a large number of SNP-discriminating methods are currently available, few are suited for low-throughput and low-cost applications. Here, we describe a genotyping method named Simple Allele-discriminating PCR (SAP, which is ideally suited for the small-scale genotyping and gene mapping routinely performed in small to medium research or teaching laboratories. Results We demonstrate the feasibility and application of SAP to discriminate wild type alleles from their respective mutant alleles in Arabidopsis thaliana. Although the design principle was previously described, it is unclear if the method is technically robust, reliable, and applicable. Three primers were designed for each individual SNP or allele with two allele-discriminating forward primers (one for wild type and one for the mutant allele and a common reverse primer. The two allele-discriminating forward primers are designed so that each incorporates one additional mismatch at the adjacent (penultimate site from the SNP, resulting in two mismatches between the primer and its non-target template and one mismatch between the primer and its target template. The presence or absence of the wild type or the mutant allele correlates with the presence or absence of respective PCR product. The presence of both wild type-specific and mutant-specific PCR products would indicate heterozygosity. SAP is shown here to discriminate three mutant alleles (lug-3, lug-16, and luh-1 from their respective wild type alleles. In addition, the SAP principle is shown to work in conjunction with fluorophore-labeled primers, demonstrating the feasibility of applying SAP to high throughput SNP analyses. Conclusion SAP offers an excellent alternative to existing SNP

  13. Dynamic reprogramming of DNA methylation at an epigenetically sensitive allele in mice.

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    Marnie E Blewitt

    2006-04-01

    Full Text Available There is increasing evidence in both plants and animals that epigenetic marks are not always cleared between generations. Incomplete erasure at genes associated with a measurable phenotype results in unusual patterns of inheritance from one generation to the next, termed transgenerational epigenetic inheritance. The Agouti viable yellow (A(vy allele is the best-studied example of this phenomenon in mice. The A(vy allele is the result of a retrotransposon insertion upstream of the Agouti gene. Expression at this locus is controlled by the long terminal repeat (LTR of the retrotransposon, and expression results in a yellow coat and correlates with hypomethylation of the LTR. Isogenic mice display variable expressivity, resulting in mice with a range of coat colours, from yellow through to agouti. Agouti mice have a methylated LTR. The locus displays epigenetic inheritance following maternal but not paternal transmission; yellow mothers produce more yellow offspring than agouti mothers. We have analysed the DNA methylation in mature gametes, zygotes, and blastocysts and found that the paternally and maternally inherited alleles are treated differently. The paternally inherited allele is demethylated rapidly, and the maternal allele is demethylated more slowly, in a manner similar to that of nonimprinted single-copy genes. Interestingly, following maternal transmission of the allele, there is no DNA methylation in the blastocyst, suggesting that DNA methylation is not the inherited mark. We have independent support for this conclusion from studies that do not involve direct analysis of DNA methylation. Haplo-insufficiency for Mel18, a polycomb group protein, introduces epigenetic inheritance at a paternally derived A(vy allele, and the pedigrees reveal that this occurs after zygotic genome activation and, therefore, despite the rapid demethylation of the locus.

  14. Evidence that intragenic recombination contributes to allelic diversity of the S-RNase gene at the self-incompatibility (S) locus in Petunia inflata.

    Science.gov (United States)

    Wang, X; Hughes, A L; Tsukamoto, T; Ando, T; Kao, T

    2001-02-01

    For Solanaceae type self-incompatibility, discrimination between self and nonself pollen by the pistil is controlled by the highly polymorphic S-RNase gene. To date, the mechanism generating the allelic diversity of this gene is largely unknown. Natural populations offer a good opportunity to address this question because they likely contain different alleles that share recent common progenitors. We identified 19 S haplotypes from a natural population of Petunia inflata in Argentina, used reverse transcriptase-polymerase chain reaction to obtain cDNAs for 15 alleles of the S-RNase gene, and sequenced all the cDNAs. Phylogenetic studies revealed that five of these alleles and two previously identified alleles form a major clade, and that the 5' region of S(19) allele was derived from an ancestor allele closely related to S(2), whereas its 3' region was derived from an ancestor allele closely related to S(8). A similar evolutionary relationship was found among S(3), S(12), and S(15) alleles. These findings suggest that intragenic recombination contributed to the generation of the allelic diversity of the S-RNase gene. Two additional findings emerged from the sequence comparisons. First, the nucleotide sequence of the S(1) allele identified in this work is completely identical to that of the previously identified S(1) allele of a different origin. Second, in the two hypervariable regions HVa and HVb, thought to be involved in determining S allele specificity, S(6) and S(9) alleles differ only by four nucleotides, all in HVb, resulting in two amino acid differences. The implications of these findings are discussed. PMID:11161057

  15. The effect of wild card designations and rare alleles in forensic DNA database searches

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Bright, Jo-Anne; Buckleton, John S;

    2015-01-01

    not correspond to any marker in the allelic ladder or appear above or below the extent of the allelic ladder range are assigned the allele designation R for rare allele. R alleles are position specific with respect to the observed/unambiguous allele. The F and R designations are made when the exact genotype has...

  16. Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing® technology

    Directory of Open Access Journals (Sweden)

    Gallagher Margaret L

    2009-08-01

    Full Text Available Abstract Background Identification of CYP2A6 alleles associated with reduced enzyme activity is important in the study of inter-individual differences in drug metabolism. CYP2A6*12 is a hybrid allele that results from unequal crossover between CYP2A6 and CYP2A7 genes. The 5' regulatory region and exons 1–2 are derived from CYP2A7, and exons 3–9 are derived from CYP2A6. Conventional methods for detection of CYP2A6*12 consist of two-step PCR protocols that are laborious and unsuitable for high-throughput genotyping. We developed a rapid and accurate method to detect the CYP2A6*12 allele by Pyrosequencing technology. Methods A single set of PCR primers was designed to specifically amplify both the CYP2A6*1 wild-type allele and the CYP2A6*12 hybrid allele. An internal Pyrosequencing primer was used to generate allele-specific sequence information, which detected homozygous wild-type, heterozygous hybrid, and homozygous hybrid alleles. We first validated the assay on 104 DNA samples that were also genotyped by conventional two-step PCR and by cycle sequencing. CYP2A6*12 allele frequencies were then determined using the Pyrosequencing assay on 181 multi-ethnic DNA samples from subjects of African American, European Caucasian, Pacific Rim, and Hispanic descent. Finally, we streamlined the Pyrosequencing assay by integrating liquid handling robotics into the workflow. Results Pyrosequencing results demonstrated 100% concordance with conventional two-step PCR and cycle sequencing methods. Allele frequency data showed slightly higher prevalence of the CYP2A6*12 allele in European Caucasians and Hispanics. Conclusion This Pyrosequencing assay proved to be a simple, rapid, and accurate alternative to conventional methods, which can be easily adapted to the needs of higher-throughput studies.

  17. Allele mining and enhanced genetic recombination for rice breeding.

    Science.gov (United States)

    Leung, Hei; Raghavan, Chitra; Zhou, Bo; Oliva, Ricardo; Choi, Il Ryong; Lacorte, Vanica; Jubay, Mona Liza; Cruz, Casiana Vera; Gregorio, Glenn; Singh, Rakesh Kumar; Ulat, Victor Jun; Borja, Frances Nikki; Mauleon, Ramil; Alexandrov, Nickolai N; McNally, Kenneth L; Sackville Hamilton, Ruaraidh

    2015-12-01

    Traditional rice varieties harbour a large store of genetic diversity with potential to accelerate rice improvement. For a long time, this diversity maintained in the International Rice Genebank has not been fully used because of a lack of genome information. The publication of the first reference genome of Nipponbare by the International Rice Genome Sequencing Project (IRGSP) marked the beginning of a systematic exploration and use of rice diversity for genetic research and breeding. Since then, the Nipponbare genome has served as the reference for the assembly of many additional genomes. The recently completed 3000 Rice Genomes Project together with the public database (SNP-Seek) provides a new genomic and data resource that enables the identification of useful accessions for breeding. Using disease resistance traits as case studies, we demonstrated the power of allele mining in the 3,000 genomes for extracting accessions from the GeneBank for targeted phenotyping. Although potentially useful landraces can now be identified, their use in breeding is often hindered by unfavourable linkages. Efficient breeding designs are much needed to transfer the useful diversity to breeding. Multi-parent Advanced Generation InterCross (MAGIC) is a breeding design to produce highly recombined populations. The MAGIC approach can be used to generate pre-breeding populations with increased genotypic diversity and reduced linkage drag. Allele mining combined with a multi-parent breeding design can help convert useful diversity into breeding-ready genetic resources. PMID:26606925

  18. Allelic imbalance at the beta-catenin gene (CTNNB1 at 3p22-21.3) in various human tumor types

    NARCIS (Netherlands)

    Nollet, F; van den Berg, Anke; Kersemaekers, AM; CletonJansen, AM; Berx, G; VanderVeen, AY; Eichperger, C; Wieland, [No Value; DeGreve, J; Liefers, GJ; Xiao, WH; Buys, CHCM; Cornelisse, C; VanRoy, F

    1997-01-01

    beta-catenin is a multifunctional protein: it plays a central role in the cell-cell adhesive junctions, and participates in transduction of the morphogenic Wingless/Wnt-signal. Upon detailed analysis of the human beta-catenin gene, an intragenic polymorphic microsatellite marker could be identified.

  19. An Analysis of Economic Growth, Competitiveness and Macroeconomic Imbalances in the European Union

    Directory of Open Access Journals (Sweden)

    Gheorghe Hurduzeu

    2015-09-01

    Full Text Available Taking into consideration the determinants of the economic crisis and of the sovereign debt crisis, we aim to analyze the dynamics of the European economies and discuss changes related to macroeconomic imbalances, as highlighted by the recent crises as an important factor of the unfavorable dynamics registered during the last years. In this respect we considered both internal and external imbalances, as specified in the macroeconomic imbalance procedure that was implemented for the European Union member states since 2012, as a response to the crises that affected all open economies of the world. The purpose of this article is to provide a comprehensive analysis of economic imbalances in the European Union and to determine their influence on economic growth.

  20. A single-to-differential low-noise amplifier with low differential output imbalance

    Institute of Scientific and Technical Information of China (English)

    Duan Lian; Huang Wei; Ma Chengyan; He Xiaofeng; Jin Yuhua; Ye Tianchun

    2012-01-01

    This paper presents a single-ended input differential output low-noise amplifier intended for GPS applications.We propose a method to reduce the gain/amplitude and phase imbalance of a differential output exploiting the inductive coupling of a transformer or center-tapped differential inductor.A detailed analysis of the theory of imbalance reduction,as well as a discussion on the principle of choosing the dimensions of a transformer,are given.An LNA has been implemented using TSMC 0.18μm technology with ESD-protected.Measurement on board shows a voltage gain of 24.6 dB at 1.575 GHz and a noise figure of 3.2 dB.The gain imbalance is below 0.2 dB and phase imbalance is less than 2 degrees.The LNA consumes 5.2 mA from a 1.8 V supply.

  1. SYSTEMIC IMBALANCE OF ESSENTIAL METALS AND CARDIAC GENE EXPRESSION IN RATS FOLLOWING ACUTE PULMONARY ZINC EXPOSURE

    Science.gov (United States)

    We have recently demonstrated that PM containing water-soluble zinc may cause cardiac injury following pulmonary exposure. To investigate if pulmonary zinc exposure causes systemic metal imbalance and direct cardiac effects, we intratracheally (IT) instilled male Wistar Kyoto (WK...

  2. A novel control scheme for simultaneous elimination of imbalance, disturbance and voltage harmonic in power systems

    Institute of Scientific and Technical Information of China (English)

    Javad Olamaei; Farnoosh NarjabadiFam; Amid Nazeri

    2014-01-01

    In recent years, the increasing application of nonlinear and unbalanced electronic equipment and large single phase loads have made voltage imbalance a serious problem in power distribution systems. A novel approach has been proposed to eliminate voltage imbalance and disturbances. The main strategy of this scheme is based on series active filter. By improving control circuit toward existing schemes and proposing a new strategy to control the voltage amplitude, simultaneous elimination of voltage imbalance, faults, voltage harmonics and also compensation of voltage drop in transmission lines become possible. Eventually, the voltage on the load side is a perfectly balanced three phase voltage with specific proper amplitude. The proposed scheme has been simulated in a test network and the results show high capability of this scheme for the complete elimination of imbalance without phase shift.

  3. On the consequences of the energy imbalance for calculating surface conductance to water vapour.

    Science.gov (United States)

    Wohlfahrt, Georg; Haslwanter, Alois; Hörtnagl, Lukas; Jasoni, Richard L; Fenstermaker, Lynn F; Arnone, John A; Hammerle, Albin

    2009-09-01

    The Penman-Monteith combination equation, which is most frequently used to derive the surface conductance to water vapour (Gs), implicitly assumes the energy balance to be closed. Any energy imbalance (positive or negative) will thus affect the calculated Gs. Using eddy covariance energy flux data from a temperate grassland and a desert shrub ecosystem we explored five possible approaches of closing the energy imbalance and show that calculated Gs may differ considerably between these five approaches depending on the relative magnitudes of sensible and latent heat fluxes, and the magnitude and sign of the energy imbalance. Based on our limited understanding of the nature of the energy imbalance, we tend to favour an approach which preserves the Bowen-ratio and closes the energy balance on a larger time scale.

  4. Genetic structure, diversity, and allelic richness in composite collection and reference set in chickpea (Cicer arietinum L.

    Directory of Open Access Journals (Sweden)

    Gowda Cholenahalli LL

    2008-10-01

    Full Text Available Abstract Background Plant genetic resources (PGR are the basic raw materials for future genetic progress and an insurance against unforeseen threats to agricultural production. An extensive characterization of PGR provides an opportunity to dissect structure, mine allelic variations, and identify diverse accessions for crop improvement. The Generation Challenge Program http://www.generationcp.org conceptualized the development of "composite collections" and extraction of "reference sets" from these for more efficient tapping of global crop-related genetic resources. In this study, we report the genetic structure, diversity and allelic richness in a composite collection of chickpea using SSR markers, and formation of a reference set of 300 accessions. Results The 48 SSR markers detected 1683 alleles in 2915 accessions, of which, 935 were considered rare, 720 common and 28 most frequent. The alleles per locus ranged from 14 to 67, averaged 35, and the polymorphic information content was from 0.467 to 0.974, averaged 0.854. Marker polymorphism varied between groups of accessions in the composite collection and reference set. A number of group-specific alleles were detected: 104 in Kabuli, 297 in desi, and 69 in wild Cicer; 114 each in Mediterranean and West Asia (WA, 117 in South and South East Asia (SSEA, and 10 in African region accessions. Desi and kabuli shared 436 alleles, while wild Cicer shared 17 and 16 alleles with desi and kabuli, respectively. The accessions from SSEA and WA shared 74 alleles, while those from Mediterranean 38 and 33 alleles with WA and SSEA, respectively. Desi chickpea contained a higher proportion of rare alleles (53% than kabuli (46%, while wild Cicer accessions were devoid of rare alleles. A genotype-based reference set captured 1315 (78% of the 1683 composite collection alleles of which 463 were rare, 826 common, and 26 the most frequent alleles. The neighbour-joining tree diagram of this reference set represents

  5. A study on the allelic deletion and mutation of FHIT gene in human non-small cell lung cancer%人非小细胞肺癌中FHIT等位基因缺失和突变的研究

    Institute of Scientific and Technical Information of China (English)

    周清华; 陈军; 覃扬; 孙芝琳; 刘伦旭; 孙泽芳; 车国卫; 李潞; 秦建军; 宫友陵

    2001-01-01

    Objective To explore the role of the allelic deletion and mutation of FHIT gene on the carcinogenesis and development of lung cancer. Methods The allelic alterations of FHIT gene and microsatellites D3S1300, D3S1312,D3S1313 were detected in 35 cancer samples of NSCLC, their corresponding normal tissues, and 4 lung cancer cell lines, and 10 lung tissues of benign pulmonary lesions as control by PCR-SSCP and DNA sequence. Results Loss of heterozygosity (LOH) affecting at least one locus of FHIT gene was observed in 22 out of 35 tumors, with a LOH rate of 62.86%. LOH of FHIT gene in squamous cell carcinoma (88.24%) was significantly higher than that in adenocarcinoma (38.89%) (P<0.01). The LOH rate of FHIT gene in smoking patients (76.19%) was also significantly higher than that in non-smoking patients (42.86%)(P<0.05).No significant relationship was found among the LOH of FHIT and cell differentiation, P-TNM stages, size of primary tumor, location of cancer and age of the patients (P>0.05). LOH of FHIT was also detected in Lewis lung cancer and A549 cell lines. Mutation of microsatellite D3S1312 was observed in 4 lung cancer tissues. DNA sequence showed that CT mutation occurred in the 87 codon of microsatellite D3S1312. Conclusion The alteration of FHIT gene is mainly allelic loss and the frequency of allelic mutation is rare. FHIT gene alterations preferentially occur in squamous cell carcinoma patients and smokers, and FHIT gene may be a candidate molecular target of carcinogenesis in tobacco smoker. Allelic deletion of FHIT gene might be an early molecular event in smoking-related lung cancer.%目的探讨FHIT等位基因缺失、突变在肺癌发生、发展中的作用。方法应用PCR-SSCP和DNA序列分析方法对35例人非小细胞肺癌和4个肺癌细胞株中FHIT基因的4个外显子(外显子3、4、5、8)和微卫星D3S1300、D3S1312、D3S1313进行研究,并以远癌肺组织和10例肺良性病

  6. Pelvis morphology, trunk posture and standing imbalance and their relations to the Cobb angle in moderate and severe untreated AIS.

    Directory of Open Access Journals (Sweden)

    Georges Dalleau

    Full Text Available Adolescent idiopathic scoliosis (AIS is the most common form of scoliosis and usually affects young girls. Studies mostly describe the differences between scoliotic and non-scoliotic girls and focus primarily on a single set of parameters derived from spinal and pelvis morphology, posture or standing imbalance. No study addressed all these three biomechanical aspects simultaneously in pre-braced AIS girls of different scoliosis severity but with similar curve type and their interaction with scoliosis progression. The first objective of this study was to test if there are differences in these parameters between pre-braced AIS girls with a right thoracic scoliosis of moderate (less than 27° and severe (more than 27° deformity. The second objective was to identify which of these parameters are related to the Cobb angle progression either individually or in combination of thereof. Forty-five scoliotic girls, randomly selected by an orthopedic surgeon from the hospital scoliosis clinic, participated in this study. Parameters related to pelvis morphology, pelvis orientation, trunk posture and quiet standing balance were measured. Generally moderate pre-brace idiopathic scoliosis patients displayed lower values than the severe group characterized by a Cobb angle greater than 27°. Only pelvis morphology and trunk posture were statistically different between the groups while pelvis orientation and standing imbalance were similar in both groups. Statistically significant Pearson coefficients of correlation between individual parameters and Cobb angle ranged between 0.32 and 0.53. Collectively trunk posture, pelvis morphology and standing balance parameters are correlated with Cobb angle at 0.82. The results suggest that spinal deformity progression is not only a question of trunk morphology distortion by itself but is also related to pelvis asymmetrical bone growth and standing neuromuscular imbalance.

  7. Can an energy balance model provide additional constraints on how to close the energy imbalance?

    OpenAIRE

    Wohlfahrt, Georg; Widmoser, Peter

    2013-01-01

    Elucidating the causes for the energy imbalance, i.e. the phenomenon that eddy covariance latent and sensible heat fluxes fall short of available energy, is an outstanding problem in micrometeorology. This paper tests the hypothesis that the full energy balance, through incorporation of additional independent measurements which determine the driving forces of and resistances to energy transfer, provides further insights into the causes of the energy imbalance and additional constraints on ene...

  8. Comprehensive Investigation on Current Imbalance among Parallel Chips inside MW-Scale IGBT Power Modules

    DEFF Research Database (Denmark)

    Wu, Rui; Smirnova, Liudmila; Wang, Huai;

    2015-01-01

    With the demands for increasing the power rating and improving reliability level of the high power IGBT modules, there are further needs of understanding how to achieve stable paralleling and identical current sharing between the chips. This paper investigates the stray parameters imbalance among...... parallel chips inside the 1.7 kV/1 kA high power IGBT modules at different frequencies by Ansys Q3D parastics extractor. The resulted current imbalance is further confirmed by experimental measurement....

  9. Comprehensive Investigation on Current Imbalance among Parallel Chips inside MW-Scale IGBT Power Modules

    OpenAIRE

    Wu, Rui; Smirnova, Liudmila; Wang, Huai; Iannuzzo, Francesco; Blaabjerg, Frede

    2015-01-01

    With the demands for increasing the power rating and improving reliability level of the high power IGBT modules, there are further needs of understanding how to achieve stable paralleling and identical current sharing between the chips. This paper investigates the stray parameters imbalance among parallel chips inside the 1.7 kV/1 kA high power IGBT modules at different frequencies by Ansys Q3D parastics extractor. The resulted current imbalance is further confirmed by experimental measurement.

  10. Nomenclature for human CYP2D6 alleles.

    Science.gov (United States)

    Daly, A K; Brockmöller, J; Broly, F; Eichelbaum, M; Evans, W E; Gonzalez, F J; Huang, J D; Idle, J R; Ingelman-Sundberg, M; Ishizaki, T; Jacqz-Aigrain, E; Meyer, U A; Nebert, D W; Steen, V M; Wolf, C R; Zanger, U M

    1996-06-01

    To standardize CYP2D6 allele nomenclature, and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that alleles be designated by CYP2D6 followed by an asterisk and a combination of roman letters and arabic numerals distinct for each allele with the number specifying the key mutation and, where appropriate, a letter specifying additional mutations. Criteria for classification as a separate allele and protein nomenclature are also presented. PMID:8807658

  11. Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

    Directory of Open Access Journals (Sweden)

    Brockmann Knut

    2009-03-01

    Full Text Available Abstract Background Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR. The aim of the study was to evaluate a quantitative PCR (qPCR protocol established by Boehm et al. (2004 in the clinical routine of subtelomeric testing. Results 296 patients with MR and a normal karyotype (500–550 bands were screened for subtelomeric imbalances by using qPCR combined with SYBR green detection. In total, 17 patients (5.8% with 20 subtelomeric imbalances were identified. Six of the aberrations (2% were classified as causative for the symptoms, because they occurred either de novo in the patients (5 cases or the aberration were be detected in the patient and an equally affected parent (1 case. The extent of the deletions ranged from 1.8 to approximately 10 Mb, duplications were 1.8 to approximately 5 Mb in size. In 6 patients, the copy number variations (CNVs were rated as benign polymorphisms, and the clinical relevance of these CNVs remains unclear in 5 patients (1.7%. Therefore, the overall frequency of clinically relevant imbalances ranges between 2% and 3.7% in our cohort. Conclusion This study illustrates that the qPCR/SYBR green technique represents a rapid and versatile method for the detection of subtelomeric imbalances and the option to map the breakpoint. Thus, this technique is highly suitable for genotype/phenotype studies in patients with MR/developmental delay and/or congenital defects.

  12. Cenozoic carbon cycle imbalances and a variable weathering feedback

    Science.gov (United States)

    Caves, Jeremy K.; Jost, Adam B.; Lau, Kimberly V.; Maher, Kate

    2016-09-01

    The long-term stability of Earth's climate and the recovery of the ocean-atmosphere system after carbon cycle perturbations are often attributed to a stabilizing negative feedback between silicate weathering and climate. However, evidence for the operation of this feedback over million-year timescales and in response to tectonic and long-term climatic change remains scarce. For example, the past 50 million years of the Cenozoic Era are characterized by long-term cooling and declining atmospheric CO2 (pCO2). During this interval, constant or decreasing carbon fluxes from the solid Earth to the atmosphere suggest that stable or decreasing weathering fluxes are needed to balance the carbon cycle. In contrast, marine isotopic proxies of weathering (i.e., 87Sr/86Sr, δ7 Li , and 187Os/188Os) are interpreted to reflect increasing weathering fluxes. Here, we evaluate the existence of a negative feedback by reconstructing the imbalance in the carbon cycle during the Cenozoic using the surface inventories of carbon and alkalinity. Only a sustained 0.25-0.5% increase in silicate weathering is necessary to explain the long-term decline in pCO2 over the Cenozoic. We propose that the long-term decrease in pCO2 is due to an increase in the strength of the silicate weathering feedback (i.e., the constant of proportionality between the silicate weathering flux and climate), rather than an increase in the weathering flux. This increase in the feedback strength, which mirrors the marine isotope proxies, occurs as transient, 1 million year timescales remains invariant to match the long-term inputs of carbon. Over the Cenozoic, this results in stable long-term weathering fluxes even as pCO2 decreases. We attribute increasing feedback strength to a change in the type and reactivity of rock in the weathering zone, which collectively has increased the reactivity of the surface of the Earth. Increasing feedback strength through the Cenozoic reconciles mass balance in the carbon cycle with

  13. Cenozoic carbon cycle imbalances and a variable weathering feedback

    Science.gov (United States)

    Caves, Jeremy K.; Jost, Adam B.; Lau, Kimberly V.; Maher, Kate

    2016-09-01

    The long-term stability of Earth's climate and the recovery of the ocean-atmosphere system after carbon cycle perturbations are often attributed to a stabilizing negative feedback between silicate weathering and climate. However, evidence for the operation of this feedback over million-year timescales and in response to tectonic and long-term climatic change remains scarce. For example, the past 50 million years of the Cenozoic Era are characterized by long-term cooling and declining atmospheric CO2 (pCO2). During this interval, constant or decreasing carbon fluxes from the solid Earth to the atmosphere suggest that stable or decreasing weathering fluxes are needed to balance the carbon cycle. In contrast, marine isotopic proxies of weathering (i.e., 87Sr/86Sr, δ7 Li , and 187Os/188Os) are interpreted to reflect increasing weathering fluxes. Here, we evaluate the existence of a negative feedback by reconstructing the imbalance in the carbon cycle during the Cenozoic using the surface inventories of carbon and alkalinity. Only a sustained 0.25-0.5% increase in silicate weathering is necessary to explain the long-term decline in pCO2 over the Cenozoic. We propose that the long-term decrease in pCO2 is due to an increase in the strength of the silicate weathering feedback (i.e., the constant of proportionality between the silicate weathering flux and climate), rather than an increase in the weathering flux. This increase in the feedback strength, which mirrors the marine isotope proxies, occurs as transient, temperature decline in response, the integrated weathering flux over >1 million year timescales remains invariant to match the long-term inputs of carbon. Over the Cenozoic, this results in stable long-term weathering fluxes even as pCO2 decreases. We attribute increasing feedback strength to a change in the type and reactivity of rock in the weathering zone, which collectively has increased the reactivity of the surface of the Earth. Increasing feedback strength

  14. May Underdiagnosed Nutrition Imbalances Be Responsible for a Portion of So-Called Unexplained Infertility? From Diagnosis to Potential Treatment Options.

    Science.gov (United States)

    Noventa, Marco; Quaranta, Michela; Vitagliano, Amerigo; Cinthya, Vescio; Valentini, Romina; Campagnaro, Tania; Marci, Roberto; Paola, Rossana Di; Alviggi, Carlo; Gangemi, Michele; Saccardi, Carlo; Nardelli, Giovanni Battista; Gizzo, Salvatore

    2016-06-01

    The aim of the study was to investigate whether women affected by unexplained infertility may have undiagnosed dietary imbalances which negatively affect fertility. Secondarily, we investigated whether varying degrees of nutritional abnormalities may benefit from different periconceptional dietary supplementations, evaluating the most effective intervention in improving pregnancy rate after in vitro fertilization (IVF). We conducted a survey on 2 cohorts of patients (group A: unexplained infertility and group B: healthy first trimester spontaneous pregnancies) with the scope of investigating and comparing their dietary status discriminating women without dietary abnormalities (cohort 1) from those with abnormalities exclusively in micronutrient intake (cohort 2) or combined abnormalities in both micronutrient and macronutrient intake and associated obesity (cohort 3). All women included in group A were offered the opportunity to receive a prescription for one of the 3 designated daily dietary supplementation schemes (subgroups A1, A2, and A3) which were to be implemented in the 3 months immediately prior to beginning IVF treatment. When compared with fertile women, patients having unexplained infertility showed significant abnormalities in dietary habits. These differences ranged from a minimal imbalance in micronutrient intake (potentially avoidable with dietary supplementation) to severe combined macronutrient and micronutrient imbalance frequently associated with obesity (partially amendable by inositol supplementation and frequently requiring long-term dietary reeducation before establishment of fertility). Nutritional investigation and treatment may explain and resolve a portion of cases of unexplained infertility, improving the outcome of IVF treatment and, with minimal imbalances, likely restore spontaneous fertility. PMID:26692540

  15. Allelic analysis of sheath blight resistance with association mapping in rice.

    Directory of Open Access Journals (Sweden)

    Limeng Jia

    Full Text Available Sheath blight (ShB caused by the soil-borne pathogen Rhizoctonia solani is one of the most devastating diseases in rice world-wide. Global attention has focused on examining individual mapping populations for quantitative trait loci (QTLs for ShB resistance, but to date no study has taken advantage of association mapping to examine hundreds of lines for potentially novel QTLs. Our objective was to identify ShB QTLs via association mapping in rice using 217 sub-core entries from the USDA rice core collection, which were phenotyped with a micro-chamber screening method and genotyped with 155 genome-wide markers. Structure analysis divided the mapping panel into five groups, and model comparison revealed that PCA5 with genomic control was the best model for association mapping of ShB. Ten marker loci on seven chromosomes were significantly associated with response to the ShB pathogen. Among multiple alleles in each identified loci, the allele contributing the greatest effect to ShB resistance was named the putative resistant allele. Among 217 entries, entry GSOR 310389 contained the most putative resistant alleles, eight out of ten. The number of putative resistant alleles presented in an entry was highly and significantly correlated with the decrease of ShB rating (r = -0.535 or the increase of ShB resistance. Majority of the resistant entries that contained a large number of the putative resistant alleles belonged to indica, which is consistent with a general observation that most ShB resistant accessions are of indica origin. These findings demonstrate the potential to improve breeding efficiency by using marker-assisted selection to pyramid putative resistant alleles from various loci in a cultivar for enhanced ShB resistance in rice.

  16. Analysis of the imbalance price scheme in the Spanish electricity market: A wind power test case

    International Nuclear Information System (INIS)

    This work investigates the interaction between wind power and electricity markets. The paper is focused on balancing markets pricing policies. The proposal of a new imbalance price scheme is included and conveniently evaluated. This proposed scheme tries to minimise the use of ancillary services to compensate for deviations in searching for a more efficient market design. The effectiveness of imbalance prices as market signals is also examined, and policy recommendations regarding imbalance services are discussed. Two test cases are included that analyse the participation of a wind power producer in the Spanish electricity market using a stochastic optimisation strategy. For this purpose, the uncertainty of the variables is considered, i.e., wind power production and prediction, intraday and imbalance prices. Test cases were run with real data for 10 months, and realistic results are presented along with a hypothetical test case. The regulation of the imbalance prices may not be adequate for the Spanish electricity market because an error drop is not sufficiently encouraged. Therefore, we suggest the application of a new imbalance price scheme, which includes an additional constraint. The conclusions of this paper can be assumed to be general policy recommendations

  17. Identification of Multiple Alleles at the Wx Locus and Development of Single Segment Substitution Lines for the Alleles in Rice

    Institute of Scientific and Technical Information of China (English)

    ZENG Rui-zhen; ZHANG Ze-min; HE Feng-hua; XI Zhang-ying; Akshay TALUKDAR; SHI Jun-qiong; QIN Li-jun; HUANG Chao-feng; ZHANG Gui-quan

    2006-01-01

    The microsatellite markers 484/485 and 484/W2R were used to identify the multiple alleles at the Wx locus in rice germplasm. Fifteen alleles were identified in 278 accessions by using microsatellite class and G-T polymorphism. Among these alleles, (CT)12-G, (CT)15-G, (CT)16-G, (CT)17-G, (CT)18-G and (CT)21-G have not been reported. Seventy-two single-segment substitution lines (SSSLs) carrying different alleles at the Wx locus were developed by using Huajingxian 74 with the (CT)11-G allele as a recipient and 20 accessions containing 12 different alleles at the Wx locus as donors. The estimated length of the substituted segments ranged from 2.2 to 77.3 cM with an average of 17.4 cM.

  18. The importance of HLA DRB1 gene allele to clinical features and disability in patients with multiple sclerosis in Lithuania

    Science.gov (United States)

    2013-01-01

    Background The association of HLA DRB1 alleles with susceptibility to multiple sclerosis (MS) has been consistently reported although its effect on the clinical features and disability is still unclear probably due to diversity in ethnicity and geographic location of the studied populations. The aim of the present study was to investigate the influence of HLA DRB1 alleles on the clinical features and disability of the patients with MS in Lithuania. Methods This was a prospective study of 120 patients with MS. HLA DRB1 alleles were genotyped using the polymerase chain reaction. Results The first symptoms of MS in patients with HLA DRB1*15 allele manifested at younger age than in those without this allele (28.32 +/− 5.49 yrs vs. 30.94 +/− 8.43 yrs, respectively, p = 0.043). HLA DRB1*08 allele was more prevalent among relapsing-remitting (RR) MS patients than among patients with progressive course of MS (25.0% vs. 8.3%, respectively, chi^2 = 6.000, p = 0.05). MS patients with this allele had lower relapse rate than those without this allele (1.00 +/− 0.97 and 1.44 +/− 0.85, respectively, p = 0.043). Degree of disability during the last visit was lower among the patients with HLA DRB1*08 allele (EDSS score 3.15 +/− 1.95 vs. 4.49 +/− 1.96, p = 0.006), and higher among those with HLA DRB1*15 allele (EDSS score 4.60 +/− 2.10 vs.4.05 +/− 1.94, p = 0.047) compared to patients without these alleles but there were no significant associations between these alleles and the duration of the disease to disability. HLA DRB1*08 allele (OR = 0.18, 95% CI 0,039-0,8, p = 0.029) was demonstradet to be independent factor to take a longer time to reach an EDSS of 6, while HLA DRB1*01 allele (OR = 5.92, 95% CI 1,30-26,8, p = 0.021) was related in a shorter time to reach and EDSS of 6. Patients with HLA DRB1*08 allele had lower IgG index compared to patients without this allele (0.58 +/− 0.17 and 0.73 +/− 0.31, respectively, p

  19. Postural loads during walking after an imbalance of occlusion created with unilateral cotton rolls

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    Saccucci Matteo

    2010-05-01

    Full Text Available Abstract Background It was showed that stomatognathic functions correlate with alterations in locomotion, that are detectable through the analysis of loading during walking. For example, subjects with symptoms of Temporomandibular disorders (TMDs showed a significant higher load pressure on the two feet, respect to health subjects, when cotton rolls were inserted. This previous study appeared to suggest that the alteration of postural loads associated to a particular alteration of stomatognathic condition (in this case, the cotton rolls inserted between the two dental arches is detectable only in TMD's subjects, while it resulted not detectable in health subjects, because in that study, health subjects did not show any significant alteration of postural loads related to the different stomatognathic tested conditions. In other words, in that previous study, in the group of health subjects, no significant difference in postural loads was observed among the different test conditions; while TMD subjects showed a significant higher load pressure on the two feet when cotton rolls were inserted, respect to all the other tested conditions. Thus, the aim of this study was to better investigate these correlations in health subjects without TMD's symptoms, testing other different intra-oral conditions, and to verifywhether an experimentally induced imbalance of occlusion, obtained putting an unilateral cotton roll, could cause an alteration of postural loading on feet during walking. Findings In a sample of thirty Caucasian adult females (mean age 28.5 ± 4.5, asymptomatic for TMDs, when a cotton roll was positioned on the left or the right sides of dental arches, so causing a lateral shift of the mandible, the percentage of loading and the loading surface of the ipsi-lateral foot, left or right, were found to be significantly lower than in habitual occlusion (p Conclusions This study showed that in health subjects without TMD's symptoms, an experimentally

  20. Allele-specific locus binding and genome editing by CRISPR at the p16INK4a locus

    Science.gov (United States)

    Fujita, Toshitsugu; Yuno, Miyuki; Fujii, Hodaka

    2016-01-01

    The clustered regularly interspaced short palindromic repeats (CRISPR) system has been adopted for a wide range of biological applications including genome editing. In some cases, dissection of genome functions requires allele-specific genome editing, but the use of CRISPR for this purpose has not been studied in detail. In this study, using the p16INK4a gene in HCT116 as a model locus, we investigated whether chromatin states, such as CpG methylation, or a single-nucleotide gap form in a target site can be exploited for allele-specific locus binding and genome editing by CRISPR in vivo. First, we showed that allele-specific locus binding and genome editing could be achieved by targeting allele-specific CpG-methylated regions, which was successful for one, but not all guide RNAs. In this regard, molecular basis underlying the success remains elusive at this stage. Next, we demonstrated that an allele-specific single-nucleotide gap form could be employed for allele-specific locus binding and genome editing by CRISPR, although it was important to avoid CRISPR tolerance of a single nucleotide mismatch brought about by mismatched base skipping. Our results provide information that might be useful for applications of CRISPR in studies of allele-specific functions in the genomes. PMID:27465215

  1. Accounting for genotype uncertainty in the estimation of allele frequencies in autopolyploids.

    Science.gov (United States)

    Blischak, Paul D; Kubatko, Laura S; Wolfe, Andrea D

    2016-05-01

    Despite the increasing opportunity to collect large-scale data sets for population genomic analyses, the use of high-throughput sequencing to study populations of polyploids has seen little application. This is due in large part to problems associated with determining allele copy number in the genotypes of polyploid individuals (allelic dosage uncertainty-ADU), which complicates the calculation of important quantities such as allele frequencies. Here, we describe a statistical model to estimate biallelic SNP frequencies in a population of autopolyploids using high-throughput sequencing data in the form of read counts. We bridge the gap from data collection (using restriction enzyme based techniques [e.g. GBS, RADseq]) to allele frequency estimation in a unified inferential framework using a hierarchical Bayesian model to sum over genotype uncertainty. Simulated data sets were generated under various conditions for tetraploid, hexaploid and octoploid populations to evaluate the model's performance and to help guide the collection of empirical data. We also provide an implementation of our model in the R package polyfreqs and demonstrate its use with two example analyses that investigate (i) levels of expected and observed heterozygosity and (ii) model adequacy. Our simulations show that the number of individuals sampled from a population has a greater impact on estimation error than sequencing coverage. The example analyses also show that our model and software can be used to make inferences beyond the estimation of allele frequencies for autopolyploids by providing assessments of model adequacy and estimates of heterozygosity.

  2. Investigation of MGMT and DAPK1 methylation patterns in diffuse large B-cell lymphoma using allelic MSP-pyrosequencing

    Science.gov (United States)

    Kristensen, Lasse Sommer; Treppendahl, Marianne Bach; Asmar, Fazila; Girkov, Mia Seremet; Nielsen, Helene Myrtue; Kjeldsen, Tina Ellegaard; Ralfkiaer, Elisabeth; Hansen, Lise Lotte; Grønbæk, Kirsten

    2013-01-01

    The tumor suppressor genes MGMT and DAPK1 become methylated in several cancers including diffuse large B-cell lymphoma (DLBCL). However, allelic methylation patterns have not been investigated in DLBCL. We developed a fast and cost-efficient method for the analysis of allelic methylation based on pyrosequencing of methylation specific PCR (MSP) products including a SNP. Allelic methylation patterns were reliably analyzed in standards of known allelic methylation status even when diluted in unmethylated DNA to below 1% methylation. When studying 148 DLBCL patients MGMT and DAPK1 methylation was observed in 19% and 89%, respectively, and among methylated and heterozygous patients 29% and 55%, respectively, were biallelically methylated. An association between the T-allele of the rs16906252 SNP and MGMT methylation was observed (p-value = 0.04), and DAPK1 methylation of the A-allele was associated with shorter overall survival (p-value = 0.006). In future cancer research allelic MSP-pyrosequencing may be used to study a wide range of other loci. PMID:24071855

  3. Allelic frequencies for the HLA-DQA1, D1S80, HUMTHO1, HUMTPOX, HUMCSF1PO and HUMVWA loci in Cantabria (middle north Spain).

    Science.gov (United States)

    Sánchez-Molina, I; Calvet, R

    2000-01-01

    Allele frequencies for six DNA polymorphisms have been studied in a population sample from Cantabria (middle north Spain) using the polymerase chain reaction. The HLA-DQA1 locus was analyzed by the reverse dot-blot technique and the other five by polyacrylamide gel electrophoresis followed by silver staining. Six alleles were found for HLA-DQA1. 15 alleles for D1S80, 6 alleles for HUMTHO1 and HUMCSF1PO, 7 for HUMTPOX and 8 alleles for HUMVWA. The 21 repeat allele in HUMVWA had not previously been reported in a Spanish population. The genotype distributions met Hardy-Weinberg expectations for all the systems and some statistical parameters of forensic interest were calculated. Comparisons with other populations revealed significant differences for HLA-DQA1, HUMVWA and HUMTHO1, with interracial differences being more pronounced than between Spanish populations. The HUMVWA system showed the highest forensic efficiency of the six polymorphisms studied. PMID:10641932

  4. Estimation of allele frequency and association mapping using next-generation sequencing data

    Directory of Open Access Journals (Sweden)

    Andersen Gitte

    2011-06-01

    Full Text Available Abstract Background Estimation of allele frequency is of fundamental importance in population genetic analyses and in association mapping. In most studies using next-generation sequencing, a cost effective approach is to use medium or low-coverage data (e.g., X. However, SNP calling and allele frequency estimation in such studies is associated with substantial statistical uncertainty because of varying coverage and high error rates. Results We evaluate a new maximum likelihood method for estimating allele frequencies in low and medium coverage next-generation sequencing data. The method is based on integrating over uncertainty in the data for each individual rather than first calling genotypes. This method can be applied to directly test for associations in case/control studies. We use simulations to compare the likelihood method to methods based on genotype calling, and show that the likelihood method outperforms the genotype calling methods in terms of: (1 accuracy of allele frequency estimation, (2 accuracy of the estimation of the distribution of allele frequencies across neutrally evolving sites, and (3 statistical power in association mapping studies. Using real re-sequencing data from 200 individuals obtained from an exon-capture experiment, we show that the patterns observed in the simulations are also found in real data. Conclusions Overall, our results suggest that association mapping and estimation of allele frequencies should not be based on genotype calling in low to medium coverage data. Furthermore, if genotype calling methods are used, it is usually better not to filter genotypes based on the call confidence score.

  5. Allelic variation in a willow warbler genomic region is associated with climate clines.

    Directory of Open Access Journals (Sweden)

    Keith W Larson

    Full Text Available Local adaptation is an important process contributing to population differentiation which can occur in continuous or isolated populations connected by various amounts of gene flow. The willow warbler (Phylloscopus trochilus is one of the most common songbirds in Fennoscandia. It has a continuous breeding distribution where it is found in all forested habitats from sea level to the tree line and therefore constitutes an ideal species for the study of locally adapted genes associated with environmental gradients. Previous studies in this species identified a genetic marker (AFLP-WW1 that showed a steep north-south cline in central Sweden with one allele associated with coastal lowland habitats and the other with mountainous habitats. It was further demonstrated that this marker is embedded in a highly differentiated chromosome region that spans several megabases. In the present study, we sampled 2,355 individuals at 128 sites across all of Fennoscandia to study the geographic and climatic variables associated with the allele frequency distributions of WW1. Our results demonstrate that 1 allele frequency patterns significantly differ between mountain and lowland populations, 2 these allele differences coincide with extreme temperature conditions and the short growing season in the mountains, and milder conditions in coastal areas, and 3 the northern-allele or "altitude variant" of WW1 occurs in willow warblers that occupy mountainous habitat regardless of subspecies. Finally these results suggest that climate may exert selection on the genomic region associated with these alleles and would allow us to develop testable predictions for the distribution of the genetic marker based on climate change scenarios.

  6. Allelic polymorphism of Ovar-DRB1 exon2 gene and parasite resistance in two dairy sheep breeds

    Directory of Open Access Journals (Sweden)

    Stavros Spetsarias

    2016-02-01

    Full Text Available The Ovar-DRB1 gene locus is one of the most polymorphic genes of the Major Histocompatibility Complex (Ovar-MHC and holds a functional role to antigen presentation. The aim of this study was: a to describe the Ovar-DRB1 locus variability in two dairy Greek sheep breeds and b to investigate associations between this variability with resistance to gastrointestinal parasitosis. Blood and faecal samples were collected from 231 and 201 animals of Arta and Kalarrytiko breeds, respectively. The identification of alleles was performed using the sequence–base method. Faecal egg counting (FEC of the gastrointestinal parasites and measures of blood plasma pepsinogen levels were performed in order to evaluate parasitological parameters. From this study in the overall examined animals, thirty-nine Ovar-DRB1 alleles were identified, among them, ten new alleles, reported for the first time in the literature. In Arta breed a total of twenty-four alleles were found. Among the detected alleles, ten were breed specific and five were new. Regarding the Kalarrytiko breed, twenty-nine alleles were found, fifteen of them were unique and nine were new. The studied breeds differed in their allelic profile, with only 12 common from the total of 134 different recorded genotypes. A higher number of animals with high parasitic load and high plasma pepsinogen values were found in Kalarrytiko. Associations between Ovar-DRB1 alleles with FEC values were found with certain heterozygous genotypes to present significantly reduced FEC values. The large number of detected alleles with low frequencies and the fact that the majority of animals were heterozygous, make hard to find strong associations

  7. Automated analysis of sequence polymorphism in STR alleles by PCR and direct electrospray ionization mass spectrometry.

    Science.gov (United States)

    Planz, John V; Sannes-Lowery, Kristen A; Duncan, David D; Manalili, Sheri; Budowle, Bruce; Chakraborty, Ranajit; Hofstadler, Steven A; Hall, Thomas A

    2012-09-01

    Short tandem repeats (STRs) are the primary genetic markers used for the analysis of biological samples in forensic and human identity testing. The discrimination power of a combination of STRs is sufficient in many human identity testing comparisons unless the evidence is substantially compromised and/or there are insufficient relatives or a potential mutation may have arisen in kinship analyses. An automated STR assay system that is based on electrospray ionization mass spectrometry (ESI-MS) has been developed that can increase the discrimination power of some of the CODIS core STR loci and thus provide more information in typical and challenged samples and cases. Data from the ESI-MS STR system is fully backwards compatible with existing STR typing results generated by capillary electrophoresis. In contrast, however, the ESI-MS analytical system also reveals nucleotide polymorphisms residing within the STR alleles. The presence of these polymorphisms expands the number of alleles at a locus. Population studies were performed on the 13 core CODIS STR loci from African Americans, Caucasians and Hispanics capturing both the length of the allele, as well as nucleotide variations contained within repeat motifs or flanking regions. Such additional polymorphisms were identified in 11 of the 13 loci examined whereby several nominal length alleles were subdivided. A substantial increase in heterozygosity was observed, with close to or greater than 5% of samples analyzed being heterozygous with equal-length alleles in at least one of five of the core CODIS loci. This additional polymorphism increases discrimination power significantly, whereby the seven most polymorphic STR loci have a discrimination power equivalent to the 10 most discriminating of the CODIS core loci. An analysis of substructure among the three population groups revealed a higher θ than would be observed compared with using alleles designated by nominal length, i.e., repeats solely. Two loci, D3S1358

  8. Cytochrome P450 2D6 variants in a Caucasian population: Allele frequencies and phenotypic consequences

    Energy Technology Data Exchange (ETDEWEB)

    Sachse, C.; Brockmoeller, J.; Bauer, S.; Roots, I. [Humboldt Univ., Berlin (Germany)

    1997-02-01

    Cytochrome P450 2D6 (CYP2D6) metabolizes many important drugs. CYP2D6 activity ranges from complete deficiency to ultrafast metabolism, depending on at least 16 different known alleles. Their frequencies were determined in 589 unrelated German volunteers and correlated with enzyme activity measured by phenotyping with dextromethorphan or debrisoquine. For genotyping, nested PCR-RFLP tests from a PCR amplificate of the entire CYP2D6 gene were developed. The frequency of the CYP2D6*1 allele coding for extensive metabolizer (EM) phenotype was .364. The alleles coding for slightly (CYP2D6*2) or moderately (*9 and *10) reduced activity (intermediate metabolizer phenotype [IM]) showed frequencies of .324, .018, and .015, respectively. By use of novel PCR tests for discrimination, CYP2D6 gene duplication alleles were found with frequencies of.005 (*1 x 2), .013 (* 2 x 2), and .001 (*4 x 2). Frequencies of alleles with complete deficiency (poor metabolizer phenotype [PM]) were .207 (*4), .020 (*3 and *5), .009 (*6), and .001 (*7, *15, and *16). The defective CYP2D6 alleles *8, *11, *12, *13, and *14 were not found. All 41 PMs (7.0%) in this sample were explained by five mutations detected by four PCR-RFLP tests, which may suffice, together with the gene duplication test, for clinical prediction of CYP2D6 capacity. Three novel variants of known CYP2D6 alleles were discovered: *1C (T{sub 1957}C), *2B (additional C{sub 2558}T), and *4E (additional C{sub 2938}T). Analysis of variance showed significant differences in enzymatic activity measured by the dextromethorphan metabolic ratio (MR) between carriers of EN/PM (mean MR = .006) and IM/PM (mean MR = .014) alleles and between carriers of one (mean MR = .009) and two (mean MR = .003) functional alleles. The results of this study provide a solid basis for prediction of CYP2D6 capacity, as required in drug research and routine drug treatment. 35 refs., 4 figs., 5 tabs.

  9. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

    Directory of Open Access Journals (Sweden)

    Jaan-Olle Andressoo

    2006-10-01

    Full Text Available Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models. Alterations in this essential helicase, with functions in both DNA repair and basal transcription, result in diverse pathologies ranging from elevated UV sensitivity and cancer predisposition to accelerated segmental progeria. We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease-causing allele, (ii differential developmental and tissue-specific functions of distinct Xpd allele products, and (iii interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals. Our data suggest a re-evaluation of the contribution of "null" alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.

  10. Drop-out probabilities of IrisPlex SNP alleles

    DEFF Research Database (Denmark)

    Andersen, Jeppe Dyrberg; Tvedebrink, Torben; Mogensen, Helle Smidt;

    2013-01-01

    -out of true alleles is possible. As part of the validation of the IrisPlex assay in our ISO17025 accredited, forensic genetic laboratory, we estimated the probability of drop-out of specific SNP alleles using 29 and 30 PCR cycles and 25, 50 and 100 Single Base Extension (SBE) cycles. We observed no drop...

  11. Dynamics of a lipid and metabolic imbalance on the background of a complex programs of rehabilitation at metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Kotenko К.V.

    2013-12-01

    Full Text Available The study aimed the development and assessment of features of corrective action of a medical complex on a lipid imbalance at patients with obesity. Material and methods. For an assessment of features of corrective action of a medical complex on a lipid imbalance at patients with obesity in research I was 50 male patients with obesity and frustration of the reproductive sphere aged from 24 to 68 years were included, middle age was 38,5±6,1 years and 7 healthy persons, men of comparable age without any pathological states, results of which all researches were accepted to values of norm. To all patients included in research, except all-clinical inspection calculation of an index of body weight and the relation of a circle of a waist to a circle of hips, measurement of arterial pressure were applied questioning concerning food and food behavior, anthropometry (growth the body weight, a circle of a waist and hips. Besides all patients conducted laboratory methods the researches including definition of atherogenic fractions of lipids (the general cholesterol, triglycerides, LPNPand LPVP. Researches were conducted before treatment and after a course of treatment. Results. The effective complex program for restoration of reproductive function at patients with obesity is developed. Conclusion. Application of the developed comprehensive program more than its separate components caused the expressed reduction of body weight, mainly due to reduction of fatty tissue and manifestations of visceral obesity in patients with obesity and violation of reproductive function, including due to elimination of metabolic imbalance.

  12. Effects of the BDNF Val66Met Polymorphism and Met Allele Load on Declarative Memory Related Neural Networks

    DEFF Research Database (Denmark)

    Dodds, Chris M; Henson, Richard N; Suckling, John;

    2013-01-01

    It has been suggested that the BDNF Val66Met polymorphism modulates episodic memory performance via effects on hippocampal neural circuitry. However, fMRI studies have yielded inconsistent results in this respect. Moreover, very few studies have examined the effect of met allele load on activation...... of memory circuitry. In the present study, we carried out a comprehensive analysis of the effects of the BDNF polymorphism on brain responses during episodic memory encoding and retrieval, including an investigation of the effect of met allele load on memory related activation in the medial temporal lobe....... In contrast to previous studies, we found no evidence for an effect of BDNF genotype or met load during episodic memory encoding. Met allele carriers showed increased activation during successful retrieval in right hippocampus but this was contrast-specific and unaffected by met allele load. These results...

  13. Expanding the repertoire of gene tools for precise manipulation of the Clostridium difficile genome: allelic exchange using pyrE alleles.

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    Yen Kuan Ng

    Full Text Available Sophisticated genetic tools to modify essential biological processes at the molecular level are pivotal in elucidating the molecular pathogenesis of Clostridium difficile, a major cause of healthcare associated disease. Here we have developed an efficient procedure for making precise alterations to the C. difficile genome by pyrE-based allelic exchange. The robustness and reliability of the method was demonstrated through the creation of in-frame deletions in three genes (spo0A, cwp84, and mtlD in the non-epidemic strain 630Δerm and two genes (spo0A and cwp84 in the epidemic PCR Ribotype 027 strain, R20291. The system is reliant on the initial creation of a pyrE deletion mutant, using Allele Coupled Exchange (ACE, that is auxotrophic for uracil and resistant to fluoroorotic acid (FOA. This enables the subsequent modification of target genes by allelic exchange using a heterologous pyrE allele from Clostridium sporogenes as a counter-/negative-selection marker in the presence of FOA. Following modification of the target gene, the strain created is rapidly returned to uracil prototrophy using ACE, allowing mutant phenotypes to be characterised in a PyrE proficient background. Crucially, wild-type copies of the inactivated gene may be introduced into the genome using ACE concomitant with correction of the pyrE allele. This allows complementation studies to be undertaken at an appropriate gene dosage, as opposed to the use of multicopy autonomous plasmids. The rapidity of the 'correction' method (5-7 days makes pyrE(- strains attractive hosts for mutagenesis studies.

  14. Study on the analysis of high-resolution HLA-A, B and DRB1 alleles from 3238 hematopoietic stem cell donors in Jiangsu Han Chinese%3238名江苏汉族造血干细胞捐献者HLA-A、B、DRB1位点高分辨基因分型结果的研究

    Institute of Scientific and Technical Information of China (English)

    潘猛; 赵星; 潘琴琴; 樊甦; 王晓艳; 汪承亚; 沈捷

    2012-01-01

    alleles of HLA-B,and 47 HLA-DRB1 alleles of HLA-DRB1 were CWD,which account for 99.8% of total number of samples,and a few rare alleles not reported in Chinese population were found.Conclusion The results of high-resolution,CWD and rare alleles showed the characteristics of HLA distribution in Jiangsu Han population,which may be useful for finding HLA matched unrelated donors,as well as for HLA correlation with population genetics and disease association studies.

  15. Relationships between convective asymmetry, imbalance and intensity in numerically simulated tropical cyclones

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    David A. Schecter

    2013-09-01

    Full Text Available This article examines the relationships between convective asymmetry (CA, imbalance and intensity in tropical cyclones (TCs that emerge from random winds on the periodic f-plane in a cloud-system-resolving numerical model. The model is configured with warm-rain microphysics and includes a basic parameterisation of long-wave radiation. Within the simulation set, the sea-surface temperature ranges from 26 to 32°C, and the Coriolis parameter f ranges from 10−5 to 10−4 s−1. The number of TCs that develop in a simulation increases rapidly with f and ranges from 1 to 18. Taken together, the simulations provide a diverse spectrum of vortices that can be used for a meaningful statistical study.Consistent with earlier studies, mature TCs with minimal asymmetry are found to have maximum wind speeds greater than the classic theoretical value derived by Emanuel under the assumptions of gradient-wind and hydrostatic balance. In a statistical sense, it is found that the degree of superintensity with respect to balance theory reliably decays with an increasing level of inner-core CA. It is verified that a more recent version of axisymmetric steady-state theory, revised to incorporate imbalance, provides a good approximation for the maximum (azimuthally averaged azimuthal wind speed V max when CA is relatively weak. More notably, this theory for axisymmetric vortices maintains less than 10% error as CA becomes comparable in magnitude to the symmetric component of inner-core convection. Above a large but finite threshold of CA, axisymmetric steady-state theory generally over-predicts V max. The underachievement of TCs in this parameter regime is shown to coincide with substantial violation of the theoretical assumption of slantwise convective neutrality in the main updraft of the basic state. Of further interest, a reliable curve-fit is obtained for the anticorrelation between a simple measure of CA and V max normalised to an estimate of its balanced

  16. Imbalance in habitual versus goal directed neural systems during symptom provocation in obsessive-compulsive disorder.

    Science.gov (United States)

    Banca, Paula; Voon, Valerie; Vestergaard, Martin D; Philipiak, Gregor; Almeida, Inês; Pocinho, Fernando; Relvas, João; Castelo-Branco, Miguel

    2015-03-01

    Intrusive thoughts and compulsive urges to perform stereotyped behaviours are typical symptoms of obsessive-compulsive disorder. Emerging evidence suggests a cognitive bias towards habit formation at the expense of goal-directed performance in obsessive-compulsive disorder. In this study, we test this hypothesis using a novel individualized ecologically valid symptom provocation design: a live provocation functional magnetic resonance imaging paradigm with synchronous video-recording of behavioural avoidance responses. By pairing symptom provocation with online avoidance responses on a trial-by-trial basis, we sought to investigate the neural mechanisms leading to the compulsive avoidance response. In keeping with the model of habit formation in obsessive-compulsive disorder, we hypothesized that this disorder would be associated with lower activity in regions implicated in goal-directed behaviours and higher activity in regions implicated in habitual behaviours. Fifteen patients with obsessive-compulsive disorder and 15 healthy control volunteers participated in this functional magnetic resonance imaging study. Online stimuli were individually tailored to achieve effective symptom provocation at neutral, intermediate and strong intensity levels. During the symptom provocation block, the participant could choose to reject or terminate the provoking stimuli resulting in cessation of the symptom provocation. We thus separately analysed the neural correlates of symptom provocation, the urge to avoid, rejection and relief. Strongly symptom-provoking conditions evoked a dichotomous pattern of deactivation/activation in patients, which was not observed either in control conditions or in healthy subjects: a deactivation of caudate-prefrontal circuits accompanied by hyperactivation of subthalamic nucleus/putaminal regions. This finding suggests a dissociation between regions engaged in goal-directed and habitual behaviours. The putaminal hyperactivity during patients

  17. THE ROLE OF SAVINGS RATE IN DEEPENING MACROECONOMIC IMBALANCES IN CHINA

    Directory of Open Access Journals (Sweden)

    Sarlea Mihaela

    2013-07-01

    Full Text Available It is well known that China is a growing power and its impressive economic indicators have been the subject of numerous studies along the years. China’s impressive economics growth in the years 2000 based on one hand by an expansionary monetary policy, on other hand by promoting export growth had also brought into discussion another factor: that of the high savings rate. This article brings into light China’s high savings rate -household, corporate and governmental- each with its role played in the entire equation of China’s growth. There have been a lot of studies concentrating on this relationship between savings rate and economic growth. It appears that, in the case of China there is a positive relationship between high savings and high economic growth at least on the short run. This is due to the national savings rate which contributed to current account surplus that facilitated outflow and inflow of capital. Domestic investments and foreign growth had contributed to rapid economic growth despite the low level of consumption. If we add here the low demand for imported goods and the growth of households saving rate in the last year we have an image of deep macroeconomic imbalances. Furthermore, if we add to this analysis the idea of an external saving rate that proved to grow quicker than the world capacity to absorb this flows we have a vivid image of an empire as „rich country, poor population”. This high savings rate in the long run will deepen macroeconomic imbalances. As a spiral this would have to accelerate reforms in the field of pensions, healthcare, social security. On top they would have to encourage the development of the banking system in order to create an image of a powerful country also in the long run. With these internal reforms the savings rate for households will encourage consumption and a normal level of savings, for corporations it will boost investments and for government it will lead to a balance account

  18. Imbalance of endogenous homocysteine and hydrogen sulfide metabolic pathway in essential hypertensive children

    Institute of Scientific and Technical Information of China (English)

    CHEN Li; INGRID Sumou; DING Ya-guang; LIU Ying; QI Jian-guang; TANG Chao-shu; DU Jun-bao

    2007-01-01

    Background Hypertension is a common disease of the cardiovascular system. So far, the pathogenesis of primary hypertension remains unclear. The elaboration of its pathogenesis is an important topic in the field which calls for urgent resolution. The aim of this study was to probe into the metabolic imbalance of homocysteine (Hcy) and hydrogen sulfide(H2S) in children with essential hypertension, and its significance in the pathogenesis of essential hypertension.Methods Twenty-five children with essential hypertension and 30 healthy children with normal blood pressure were enrolled in the study. The medical history was investigated and a physical examination was conducted on the subjects.Plasma Hcy content was examined by fluorescence polarization immunoassay (FPIA). The plasma H2S level was detected by a modified method with a sulfide electrode. Data were presented as mean±standard deviation. The t test was applied to the mean values of both groups. Pearson linear correlation analysis was applied to the plasma Hcy and H2S as well as to the systolic pressure against the plasma H2S/Hcy ratio.Results Plasma Hcy, an intermittent metabolite of the endogenous methionine pathway, was markedly increased but plasma H2S, a final product of this pathway was significantly decreased in hypertensive cases when compared with normal subjects ((Hcy: (12.68±9.69) μmol/L vs (6.62±4.79) μmol/L (t=2.996, P<0.01); H2S: (51.93±6.01) μmol/L vs(65.70±5.50) μmol/L) (t=-8.670, P<0.01)). The ratio of plasma H2S/Hcy in children with hypertension was 5.83±2.91,while that of the control group was 11.60±3.30, and the difference is significant with a t=-6.610 and P<0.01. A negative correlation existed between plasma Hcy and H2S concentrations, r=-0.379, P<0.05. And a negative correlation was found between systolic blood pressure and the plasma H2S/Hcy ratio, r=-0.687, P<0.05.Conclusion There was a metabolic imbalance of homocysteine and hydrogen sulfide in essential

  19. Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression.

    Science.gov (United States)

    Hervé, B; Coussement, A; Gilbert, T; Dumont, F; Jacques, S; Cuisset, L; Chicard, M; Hizem, S; Bourdoncle, P; Letourneur, F; Dupont, C; Vialard, F; Choiset, A; Dupont, J-M

    2016-07-01

    The organization and dynamics of chromatin within the interphase nucleus as chromosome territories (CTs) and the relationship with transcriptional regulation are not fully understood. We studied a natural example of chromosomal disorganization: aneuploidy due to trisomies 13, 18 and 21. We hypothesized that the presence of an extra copy of one chromosome alters the CT distribution, which perturbs transcriptional activity. We used 3D-FISH to study the position of the chromosomes of interest (18 and 21) in cultured amniocytes and chorionic villus cells from pregnancies with a normal or aneuploid karyotype. We studied the volumes of nuclei and CTs in both conditions and performed a compared transcriptome analysis. We did not observe any differences between euploid and aneuploid cells in terms of the radial and relative CT positions, suggesting that the same rules govern nuclear organization in cases of trisomy. We observed lower volumes for CTs 18 and 21. Overall genome expression profiles highlighted changes in the expression of a subset of genes in trisomic chromosomes, while the majority of transcriptional changes concerned genes located on euploid chromosomes. Our results suggest that a dosage imbalance of the genes on trisomic chromosomes is associated with a disturbance of overall genomic expression. PMID:27283765

  20. Swedish Spring Wheat Varieties with the Rare High Grain Protein Allele of NAM-B1 Differ in Leaf Senescence and Grain Mineral Content

    OpenAIRE

    Linnéa Asplund; Göran Bergkvist; Leino, Matti W.; Anna Westerbergh; Martin Weih

    2013-01-01

    Some Swedish spring wheat varieties have recently been shown to carry a rare wildtype (wt) allele of the gene NAM-B1, known to affect leaf senescence and nutrient retranslocation to the grain. The wt allele is believed to increase grain protein concentration and has attracted interest from breeders since it could contribute to higher grain quality and more nitrogen-efficient varieties. This study investigated whether Swedish varieties with the wt allele differ from varieties with one of th...

  1. Different evolutionary pathway of B*570101 and B*5801 (B17 group) alleles based in intron sequences.

    Science.gov (United States)

    Martinez-Laso, Jorge; Moscoso, Juan; Zamora, Jorge; Martin-Villa, Manuel; Lowy, Ernesto; Vargas-Alarcon, Gilberto; Serrano-Vela, Juan Ignacio; Gomez-Casado, Eduardo; Arnaiz-Villena, Antonio

    2004-03-01

    Two theories about MHC allele generation have been put forward: (1) point mutation diversification and/or (2) gene conversion events. A model supporting the existence of both of these mechanisms is shown in this paper; the possible evolution of the HLA-B*570101 and HLA-B*5801 alleles (which belong to the HLA-B17 serology group) is studied. The hypothesis favoured is that gene conversion events have originated these alleles, because intron sequences are also analysed. Evolution by point mutation should only be accepted if flanking introns have also been sequenced.

  2. Marker-Assisted Selection for Recognizing Wheat Mutant Genotypes Carrying HMW Glutenin Alleles Related to Baking Quality

    OpenAIRE

    Mohammad Javad Zamani; Mohammad Reza Bihamta; Behnam Naserian Khiabani; Zahra Tahernezhad; Mohammad Taher Hallajian; Marzieh Varasteh Shamsi

    2014-01-01

    Allelic diversity of HMW glutenin loci in several studies revealed that allelic combinations affect dough quality. Dx5 + Dy10 subunits are related to good baking quality and Dx2 + Dy12 are related to undesirable baking quality. One of the most regular methods to evaluate the baking quality is SDS-PAGE which is used to improve baking quality labs. Marker-assisted selection is the method which can recognize the alleles related to baking quality and this method is based on polymerase chain reac...

  3. Novel Molecular Variants of Allele I of the Escherichia coli P Fimbrial Adhesin Gene papG

    OpenAIRE

    Johnson, James R.; Stell, Adam L.; Kaster, Nicholas; Fasching, Claudine; O'Bryan, Timothy T.

    2002-01-01

    P fimbriae of extraintestinal pathogenic Escherichia coli mediate digalactoside-specific adherence via the tip adhesin molecule PapG, which occurs in three known variants (I to III), which are encoded by the corresponding three alleles of papG. In the present study, newly discovered variants of papG allele I and the respective wild-type source strains were characterized. One of the new papG allele I variants conferred a unique agglutination phenotype that combined the phenotypes associated wi...

  4. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer's disease

    International Nuclear Information System (INIS)

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer's disease families, as it is closely linked to the gene. Most cases of Alzheimer's disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer's disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.)

  5. Introgressive hybridization: brown bears as vectors for polar bear alleles.

    Science.gov (United States)

    Hailer, Frank

    2015-03-01

    The dynamics and consequences of introgression can inform about numerous evolutionary processes. Biologists have therefore long been interested in hybridization. One challenge, however, lies in the identification of nonadmixed genotypes that can serve as a baseline for accurate quantification of admixture. In this issue of Molecular Ecology, Cahill et al. (2015) analyse a genomic data set of 28 polar bears, eight brown bears and one American black bear. Polar bear alleles are found to be introgressed into brown bears not only near a previously identified admixture zone on the Alaskan Admiralty, Baranof and Chichagof (ABC) Islands, but also far into the North American mainland. Elegantly contrasting admixture levels at autosomal and X chromosomal markers, Cahill and colleagues infer that male-biased dispersal has spread these introgressed alleles away from the Late Pleistocene contact zone. Compared to a previous study on the ABC Island population in which an Alaskan brown bear served as a putatively admixture-free reference, Cahill et al. (2015) utilize a newly sequenced Swedish brown bear as admixture baseline. This approach reveals that brown bears have been impacted by introgression from polar bears to a larger extent (up to 8.8% of their genome), than previously known, including the bear that had previously served as admixture baseline. No evidence for introgression of brown bear into polar bear is found, which the authors argue could be a consequence of selection. Besides adding new exciting pieces to the puzzle of polar/brown bear evolutionary history, the study by Cahill and colleagues highlights that wildlife genomics is moving from analysing single genomes towards a landscape genomics approach. PMID:25775930

  6. No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations

    OpenAIRE

    Seguí, N; Stevens, K. N.; Guinó, E.; Rozek, L S; Moreno, V R; Capellá, G; Gruber, S B; Valle, L.

    2011-01-01

    Background: Germline allele-specific expression (ASE) of the TGFBR1 gene has been reported as a strong risk factor for colorectal cancer (CRC) with an odds ratio close to 9. Considering the potential implications of the finding, we undertook the task of validating the initial results in this study. Methods: Allele-specific expression was measured using the highly quantitative and robust technique of pyrosequencing. Individuals from two different populations were studied, one Caucasian-dominat...

  7. HIV-1 disease-influencing effects associated with ZNRD1, HCP5 and HLA-C alleles are attributable mainly to either HLA-A10 or HLA-B*57 alleles.

    Directory of Open Access Journals (Sweden)

    Gabriel Catano

    Full Text Available A recent genome-wide association study (GWAS suggested that polymorphisms in or around the genes HCP5, HLA-C and ZNRD1 confer restriction against HIV-1 viral replication or disease progression. Here, we also find that these alleles are associated with different aspects of HIV disease, albeit mainly in European Americans. Additionally, we offer that because the GWAS cohort was a subset of HIV-positive individuals, selected based in part on having a low viral load, the observed associations for viral load are magnified compared with those we detect in a large well-characterized prospective natural history cohort of HIV-1-infected persons. We also find that because of linkage disequilibrium (LD patterns, the dominant viral load- and disease-influencing associations for the ZNRD1 or HLA-C and HCP5 alleles are apparent mainly when these alleles are present in HLA-A10- or HLA-B*57-containing haplotypes, respectively. ZNRD1 alleles lacking HLA-A10 did not confer disease protection whereas ZNRD1-A10 haplotypes did. When examined in isolation, the HCP5-G allele associates with a slow disease course and lower viral loads. However, in multivariate models, after partitioning out the protective effects of B*57, the HCP5-G allele associates with disease-acceleration and enhanced viral replication; these associations for HCP5-G are otherwise obscured because of the very strong LD between this allele and a subset of protective B*57 alleles. Furthermore, HCP5 and HLA-C alleles stratify B*57-containing genotypes into those that associate with either striking disease retardation or progressive disease, providing one explanation for the long-standing conundrum of why some HLA-B*57-carrying individuals are long-term non-progressors, whereas others exhibit progressive disease. Collectively, these data generally underscore the strong dependence of genotype-phenotype relationships upon cohort design, phenotype selection, LD patterns and populations studied. They

  8. Unusual association of three rare alleles and a mismatch in a case of paternity testing.

    Science.gov (United States)

    Turchi, Chiara; Pesaresi, Mauro; Alessandrini, Federica; Onofri, Valerio; Arseni, Alessia; Tagliabracci, Adriano

    2004-03-01

    This study reports a paternity case analyzed by the AmpFlSTR Identifiler Kit (AB) in which father and daughter shared three rare alleles for D19S433, D18S51 and TH01 microsatellites. The case also showed an apparent exclusion, due to a mutation at the D3S 1358 microsatellite. Sequencing analysis was performed to assess the size of the rare alleles and to establish their structure, which revealed some molecular variations in regions flanking the motif repeats.

  9. Mining the human phenome using allelic scores that index biological intermediates.

    Directory of Open Access Journals (Sweden)

    David M Evans

    2013-10-01

    Full Text Available It is common practice in genome-wide association studies (GWAS to focus on the relationship between disease risk and genetic variants one marker at a time. When relevant genes are identified it is often possible to implicate biological intermediates and pathways likely to be involved in disease aetiology. However, single genetic variants typically explain small amounts of disease risk. Our idea is to construct allelic scores that explain greater proportions of the variance in biological intermediates, and subsequently use these scores to data mine GWAS. To investigate the approach's properties, we indexed three biological intermediates where the results of large GWAS meta-analyses were available: body mass index, C-reactive protein and low density lipoprotein levels. We generated allelic scores in the Avon Longitudinal Study of Parents and Children, and in publicly available data from the first Wellcome Trust Case Control Consortium. We compared the explanatory ability of allelic scores in terms of their capacity to proxy for the intermediate of interest, and the extent to which they associated with disease. We found that allelic scores derived from known variants and allelic scores derived from hundreds of thousands of genetic markers explained significant portions of the variance in biological intermediates of interest, and many of these scores showed expected correlations with disease. Genome-wide allelic scores however tended to lack specificity suggesting that they should be used with caution and perhaps only to proxy biological intermediates for which there are no known individual variants. Power calculations confirm the feasibility of extending our strategy to the analysis of tens of thousands of molecular phenotypes in large genome-wide meta-analyses. We conclude that our method represents a simple way in which potentially tens of thousands of molecular phenotypes could be screened for causal relationships with disease without having to

  10. HLA B27 allele types in homogeneous groups of juvenile idiopathic arthritis patients in Latvia

    Directory of Open Access Journals (Sweden)

    Guseinova Dinara

    2010-10-01

    Full Text Available Abstract Juvenile idiopathic arthritis (JIA is a heterogeneous condition and therapeutic strategies vary in different JIA types. The routinely accepted practice to start with Sulphasalazine (SS as the first line treatment in patients with HLA B27 positive JIA proves to be ineffective in a large proportion of children. Objective to investigate HLA B27 positive JIA patients clinical characteristics, determined HLA B27 allele types and their connection with antirheumatic treatment in homogenous patient groups. Materials and methods 56 patients diagnosed with JIA and observed over the period 2006 to 2009 included in the study. HLAB27 allele types were determined using PCR method. Results In HLA B27 positive JIA patients mean disease onset was 12.34 ± 3.3 years. Most common (44% JIA type was enthesitis related arthritis. Positive response to the treatment with SS was found in 32% of patients, Methotrexate (MTX - in 43%, combined treatment - SS with MTX was effective in 12.5%. 12.5% of patients required combination MTX with Enbrel. Eight HLA B27 allele types were found in JIA patients in Latvia: *2702, *2703, *2704, *2705, *2710, *2715, *2717, *2728. The most common was *2705 - in 55% of cases. Among all the patients enthesitis related arthritis most commonly occurred in patients with HLAB*2705 allele (OR = 2.01, p Conclusions There are 8 different HLA B27 alleles in JIA patients in Latvia and the most common is *2705, but in order to assert them to be disease associated alleles, more extensive studies are needed, including control group of HLA B27 positive healthy individuals. Standard treatment approach with SS proves to be unsatisfactory in the majority of JIA patients. To improve children's quality of life achieving rapid disease control, the first line treatment in HLA B27 positive patients should be MTX. In order to start with the most appropriate drug it is necessary to determine HLAB 27 type at the onset of disease.

  11. Recombinational micro-evolution of functionally different metallothionein promoter alleles from Orchesella cincta

    Directory of Open Access Journals (Sweden)

    van Straalen Nico M

    2007-06-01

    Full Text Available Abstract Background Metallothionein (mt transcription is elevated in heavy metal tolerant field populations of Orchesella cincta (Collembola. This suggests that natural selection acts on transcriptional regulation of mt in springtails at sites where cadmium (Cd levels in soil reach toxic values This study investigates the nature and the evolutionary origin of polymorphisms in the metallothionein promoter (pmt and their functional significance for mt expression. Results We sequenced approximately 1600 bp upstream the mt coding region by genome walking. Nine pmt alleles were discovered in NW-European populations. They differ in the number of some indels, consensus transcription factor binding sites and core promoter elements. Extensive recombination events between some of the alleles can be inferred from the alignment. A deviation from neutral expectations was detected in a cadmium tolerant population, pointing towards balancing selection on some promoter stretches. Luciferase constructs were made from the most abundant alleles, and responses to Cd, paraquat (oxidative stress inducer and moulting hormone were studied in cell lines. By using paraquat we were able to dissect the effect of oxidative stress from the Cd specific effect, and extensive differences in mt induction levels between these two stressors were observed. Conclusion The pmt alleles evolved by a number of recombination events, and exhibited differential inducibilities by Cd, paraquat and molting hormone. In a tolerant population from a metal contaminated site, promoter allele frequencies differed significantly from a reference site and nucleotide polymorphisms in some promoter stretches deviated from neutral expectations, revealing a signature of balancing selection. Our results suggest that the structural differences in the Orchesella cincta metallothionein promoter alleles contribute to the metallothionein -over-expresser phenotype in cadmium tolerant populations.

  12. RANTES In1.1C allele polymorphisms in 13 Chinese ethnic populations

    Institute of Scientific and Technical Information of China (English)

    QIAN Yuan; SUN Hao; CHU Jia-you

    2009-01-01

    Background The In1.1C single nucleotide polymorphism (SNP) allele results in reduced RANTES transcription, which is associated with increased frequency of HIV-1 infection, and rapid progression to AIDS among HIV-1-infected individuals. This study aimed to study the mutant frequency and polymorphism of RANTES in Chinese populations.Methods The genotypes of RANTES In1.1C were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with the digestion of restriction endonuclease Mbo Ⅱ.Results Of the 617 individuals, 290 (47%) were carriers of the RANTES In1.1C allele, 52 of whom were homozygotes,whereas 238 were heterozygotes. The frequency of the RANTES In1.1C allele in those tested individuals was 0.2840.The frequencies of Inl.lC allele vaded from 0.07-0.27 in most of the populations in South-west China except for the two Lisu populations, while the frequencies of In1.1C spans from 0.35 to 0.45 in North-west China. The prevalence of the allele varied substantially between the South-west groups and North-west groups (X2=7.838, P=0.006).Conclusions The prevalence of the RANTES In1.1C allele varies substantially between the South-west groups and North-west groups. There is no significant difference between the groups with different languages, which suggests that language relationship is not consistent with the genetic relationship. These results have important implications for the design, assessment, and implementation of HIV-1 vaccines.

  13. Apolipoprotein E4 allele and the risk of left ventricular dysfunction in thalassemia major

    Directory of Open Access Journals (Sweden)

    M Bazrgar

    2007-07-01

    Full Text Available Background: Left ventricular (LV failure is the main cause of death in thalassemia. Iron overload in thesepatients leads to formation of oxygen free radicals. Apolipoprotein (ApoE E4 allele is the least efficient inoxidative stress condition compared with apoE2 and apoE3 alleles. This study was performed to determinethe association of three different ApoE alleles with LV dysfunction in thalassemia major patients in southernIran.Methods: The present study comprised 202 patients with thalassemia major divided into three groups accordingto echocardiographic findings: Group 1 (n=135 had no cardiac impairment; Group 2 (n=38 exhibitedLV dilatation but normal LV systolic function and Group 3 (n=29 showed LV systolic dysfunction.DNA was obtained from all patients and 198 healthy control subjects for ApoE genotyping.Results: Frequency of both apoE3/E4 genotype and apoE4 allele in Group 3 were higher than the controlgroup with corresponding values of P<0.05, Odds Ratio=2.97, 1.06<8.32 and P<0.01, OR=3.01,1.15<7.69, respectively and confidence Interval of 95%. There were no differences observed betweencontrols and patient groups in relation to other genotype and allele frequencies. Interventricular septumthickness and LV end diastolic diameter in apoE4/- patients were more than those of apoE3/E3 patients.Conclusion: ApoE4 allele increases the risk of LV impairment in thalassemia major.

  14. Genetic exchange of fimbrial alleles exemplifies the adaptive virulence strategy of Porphyromonas gingivalis.

    Directory of Open Access Journals (Sweden)

    Jennifer E Kerr

    Full Text Available Porphyromonas gingivalis is a gram-negative anaerobic bacterium, a member of the human oral microbiome, and a proposed "keystone" pathogen in the development of chronic periodontitis, an inflammatory disease of the gingiva. P. gingivalis is a genetically diverse species, and is able to exchange chromosomal DNA between strains by natural competence and conjugation. In this study, we investigate the role of horizontal DNA transfer as an adaptive process to modify behavior, using the major fimbriae as our model system, due to their critical role in mediating interactions with the host environment. We show that P. gingivalis is able to exchange fimbrial allele types I and IV into four distinct strain backgrounds via natural competence. In all recombinants, we detected a complete exchange of the entire fimA allele, and the rate of exchange varies between the different strain backgrounds. In addition, gene exchange within other regions of the fimbrial genetic locus was identified. To measure the biological implications of these allele swaps we compared three genotypes of fimA in an isogenic background, strain ATCC 33277. We demonstrate that exchange of fimbrial allele type results in profound phenotypic changes, including the quantity of fimbriae elaborated, membrane blebbing, auto-aggregation and other virulence-associated phenotypes. Replacement of the type I allele with either the type III or IV allele resulted in increased invasion of gingival fibroblast cells relative to the isogenic parent strain. While genetic variability is known to impact host-microbiome interactions, this is the first study to quantitatively assess the adaptive effect of exchanging genes within the pan genome cloud. This is significant as it presents a potential mechanism by which opportunistic pathogens may acquire the traits necessary to modify host-microbial interactions.

  15. Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

    Science.gov (United States)

    Lu, Xin-Yan; Phung, Mai T.; Shaw, Chad A.; Pham, Kim; Neil, Sarah E.; Patel, Ankita; Sahoo, Trilochan; Bacino, Carlos A.; Stankiewicz, Pawel; Lee Kang, Sung-Hae; Lalani, Seema; Chinault, A. Craig; Lupski, James R.; Cheung, Sau W.; Beaudet, Arthur L.

    2009-01-01

    OBJECTIVES Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis. METHODS Between March 2006 and September 2007, 638 neonates with various birth defects were referred for chromosomal microarray analysis. Three consecutive chromosomal microarray analysis versions were used: bacterial artificial chromosome-based versions V5 and V6 and bacterial artificial chromosome emulated oligonucleotide-based version V6 Oligo. Each version had targeted but increasingly extensive genomic coverage and interrogated >150 disease loci with enhanced coverage in genomic rearrangement-prone pericentromeric and subtelomeric regions. RESULTS Overall, 109 (17.1%) patients were identified with clinically significant abnormalities with detection rates of 13.7%, 16.6%, and 19.9% on V5, V6, and V6 Oligo, respectively. The majority of these abnormalities would not be defined by using karyotype analysis. The clinically significant detection rates by use of chromosomal microarray analysis for various clinical indications were 66.7% for “possible chromosomal abnormality” ± “others” (other clinical indications), 33.3% for ambiguous genitalia ± others, 27.1% for dysmorphic features + multiple congenital anomalies ± others, 24.6% for dysmorphic features ± others, 21.8% for congenital heart disease ± others, 17.9% for multiple congenital anomalies ± others, and 9.5% for the patients referred for others that were different from the groups defined. In all, 16 (2.5%) patients had chromosomal aneuploidies, and 81 (12.7%) patients had segmental aneusomies including common microdeletion or microduplication syndromes and other genomic disorders. Chromosomal mosaicism was found in 12 (1.9%) neonates. CONCLUSIONS Chromosomal microarray analysis is a valuable clinical diagnostic tool that allows precise and rapid identification of genomic imbalances

  16. Relation of oxidant-antioxidant imbalance with disease progression in patients with asthma

    Directory of Open Access Journals (Sweden)

    Asrar Ahmad

    2012-01-01

    Full Text Available Context: Asthma is a chronic airway disorder which is associated to the inflammatory cells. Inflammatory and immune cells generate more reactive oxygen species in patients suffering from asthma which leads to tissue injury. Aims: To investigate the role of oxidant-antioxidant imbalance in disease progression of asthmatic patients. Settings and Design: In this study, 130 asthmatic patients and 70 healthy controls were documented. Methods: For this malondialdehyde level, total protein carbonyls, sulfhydryls, activity of superoxide dismutase (SOD, catalase, glutathione peroxidase (GPx, total blood glutathione, and total antioxidant capacity (FRAP were measured. Statistical Analysis Used: Analysis of the data was done using unpaired student t test and one-way ANOVA analysis. P < 0.05 was considered significant. Results: The present work showed that the systemic levels of MDA (4.19 ± 0.10 nmol/ml, P < 0.001 and protein carbonyls (1.13 ± 0.02 nmol/mg, P < 0.001 were found to be remarkably higher in asthmatic patients while protein sulfhydryls (0.55 ± 0.01 mmol/l, P < 0.05 decreased as compared to controls (2.84 ± 0.12 nmol/ml, 0.79 ± 0.02 nmol/mg and 0.60 ± 0.02 mmol/l, respectively. We also observed decrease in activities of SOD (2047 ± 50.34 U/g Hb, P < 0.05, catalase (4374 ± 67.98 U/g Hb, P < 0.01, and GPx (40.97 ± 1.05 U/g Hb, P < 0.01 in erythrocytes compared to control (2217 ± 60.11 U/g Hb, 4746 ± 89.94 U/g Hb, and 48.37 ± 2.47 U/g Hb, respectively. FRAP level (750.90 ± 21.22 ΅mol/l, P < 0.05 in plasma was decreased, whereas total blood glutathione increased (0.94 ± 0.02 mmol/l, P < 0.05 as seen in control (840.40 ± 28.39 ΅mol/l and 0.84 ± 0.04 mmol/l. Conclusions: This work supports and describes the hypothesis that an imbalance between oxidant-antioxidant is associated to the oxidative stress which plays a significant role in severity of the disease.

  17. Effects of Imbalance of Apoptosis and Proliferation on Large Bowel Carcinogenesis in Mice

    Institute of Scientific and Technical Information of China (English)

    BaocunSun; ShiwuZhang; XiulanZhao; LanWang

    2004-01-01

    OBJECTIVE To observe the pattern of changes in the proliferation and apoptosis at different stages of large bowel carcinoma in mice, and to explore the effects of the imbalance of apoptosis and proliferation at different stages of large-intestine carcinogenesis.METHODS An experimental animal model for large intestine carcinogenesis of KUNMING-strain mice was used. The carcinomas were induced by subcuteneous injection of dimethylhydrazine (DMH) and the distribution and density changes of proliferating and apoptotic cells observed through multistages toward cancer formation. The animals were killed in groups at the 12th, 18th, 24th,and 32nd weeks of carcinoma induction. The apoptotic and proliferating cells were labeled separately using TUNEL and PCNA immunohistochemical staining methodsRF, RESULTS In the normal mouse mucosa, all the apoptotic cells were situated in the superficial layers, however, the proliferating cells were situated in the basement layers, and the amount of both were small. In the early stage of carcinoma induction, the proliferation and the apoptotic cells slightly increased in amount, but there were no obvious changes in their ratio. In the medium stage, the densities of both distinctly increased, but there were no obvious changes in the ratio. In the late stage, the densities of the proliferating and the apoptotic cells in the non-carcinoma mucosa were higher than those at other stages. The proliferating cells in the dysplastic mucosa increased progressively with the increasing degree of the lesions. Although the apoptotic cells increased, their changes did not occur with the degree of the lesions. Their ratio showed a decreasing tendency with the degree of the lesions.CONCLUSIONS (①The presence of an imbalance between cell proliferation and apoptosis was confirmed in the course of large intestine carcinogenesis in a mouse model. ②In the early stage of carcinoma induction both proliferation and apoptosis were at a low level; in the medium

  18. Earth Radiation Imbalance from a Constellation of 66 Iridium Satellites: Climate Science Aspects

    Science.gov (United States)

    Wiscombe, W.; Chiu, CJ. Y.

    2012-01-01

    The "global warming hiatus" since the 1998 El Nino, highlighted by Meehl et al., and the resulting "missing energy" problem highlighted by Trenberth et al., has opened the door to a more fundamental view of climate change than mere surface air temperature. That new view is based on two variables which are strongly correlated: the rate of change of ocean heat content d(OHC)/dt; and Earth Radiation Imbalance (ERI) at the top of the atmosphere, whose guesstimated range is 0.4 to 0.9 Watts per square meters (this imbalance being mainly due to increasing CO2). The Argo float array is making better and better measurements of OHC. But existing satellite systems cannot measure ERI to even one significant digit. So, climate model predictions of ERI are used in place of real measurements of it, and the satellite data are tuned to the climate model predictions. Some oceanographers say "just depend on Argo for understanding the global warming hiatus and the missing energy", but we don't think this is a good idea because d(OHC)/dt and ERI have different time scales and are never perfectly correlated. We think the ERB community needs to step up to measuring ERI correctly, just as oceanographers have deployed Argo to measure OHC correctly. This talk will overview a proposed constellation of 66 Earth radiation budget instruments, hosted on Iridium satellites, that will actually be able to measure ERI to at least one significant digit, thus enabling a crucial test of climate models. This constellation will also be able to provide ERI at two-hourly time scales and 500-km spatial scales without extrapolations from uncalibrated narrowband geostationary instruments, using the highly successful methods of GRACE to obtain spatial resolution. This high time resolution would make ERI a synoptic variable like temperature, and allow studies of ERI's response to fast-evolving phenomena like dust storms and hurricanes and even brief excursions of Total Solar Irradiance. Time permitting, we

  19. Dijet imbalance in 2.76 TeV PbPb collisions in CMS

    CERN Document Server

    Salur, Sevil

    2012-01-01

    We present the measurement of dijet production in PbPb collisions at a nucleon-nucleon center-of-mass energy of 2.76 TeV that is studied with the CMS detector at the LHC. We use data corresponding to an integrated luminosity of 150 $\\mu$b$^{-1}$. Jets are reconstructed using the anti-$\\rm k_T$ algorithm on particle flow objects. The dijet momentum balance and angular correlations are studied as a function of collision centrality and leading jet momentum. For the most peripheral PbPb collisions, good agreement of the dijet momentum balance distributions with pp data and reference calculations at the same collision energy is found. However, more central collisions show a strong imbalance of leading and subleading jet transverse momenta, confirming the previous observations made using a smaller dataset. The extended jet transverse momentum range significantly increases the discriminatory power of the measurement for different models of parton energy loss in hot QCD matter.

  20. Association of HLA class II alleles and CTLA-4 polymorphism with type 1 diabetes

    Directory of Open Access Journals (Sweden)

    Rana J EI Wafai

    2011-01-01

    Full Text Available Type-1 diabetes mellitus (T1DM is a progressive complex autoimmune disease in which combinations of environmental as well as genetic factors contribute to T-cell mediated destruction of insulin-secreting β-cells of the pancreas. HLA class II alleles on chromosome 6p21 [insulin dependent diabetes mellitus 1 (IDDM1], especially DR and DQ, show strong association with T1DM. In addition, several studies have suggested that polymorphisms in the CTLA-4 gene (IDDM12 on chromosome 2q33 form part of the genetic susceptibility for type 1 diabetes. The aim of this study was to analyze HLA alleles of the DQB1 and DRB1 genes using polymerase chain reaction using sequence specific primers (PCR-SSP technique and to investigate the asso-ciation of the A49G CTLA-4 polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP analysis in Lebanese T1DM patients. The study was conduc-ted on 39 Lebanese T1DM patients. Results of HLA typing showed an increased frequency of the HLA-DQB1FNx010201, HLA-DQB1FNx010302, HLA-DRB1FNx010301 and HLA-DRB1FNx010401 alleles, sugges-ting risk association and thus can be considered as susceptibility alleles. On the other hand, strong protection against the disease was conferred by the HLA-DRB1FNx01110101, HLA-DQB1FNx010301 and HLADQB1FNx010601 alleles. RFLP analysis of the A49G polymorphism showed a significant increase in the G allele and GG genotype frequencies in patients, suggesting that CTLA-4 may be considered as a susceptibility gene for the development of T1DM in the Lebanese population. Analysis of the two polymorphisms showed no detectable association between the two genes. However, a significant negative association of the G allele with the DQB1FNx010201 allele was ob-served. This might indicate that the two genetic risk factors, namely HLA and CTLA-4, act independently of each other with no additive effect.

  1. Workaholism and work-life imbalance: does cultural origin influence the relationship?

    Science.gov (United States)

    Aziz, Shahnaz; Adkins, Carrie T; Walker, Alan G; Wuensch, Karl L

    2010-02-01

    In recent years, workaholism has become prevalent throughout organizations and has captured the attention of organizational leaders as well as the academic and scientific communities. Most research in this area has focused on the negative consequences of workaholism, specifically work-life imbalance. One area of research that has largely been ignored is the potential influence of demographic variables on the relationship between workaholism and work-life imbalance. Therefore, the current study focused on how cultural origin might influence the intensity of this relationship. Based on relative deprivation theory and previous empirical work, it was expected that cultural origin would moderate the relationship between workaholism and work-life imbalance. Specifically, it was predicted that Caucasian participants would score higher on levels of workaholism than Black participants, and that the relationship between workaholism and work-life imbalance would be stronger for Caucasians than for Blacks. The results revealed that high levels of workaholism were significantly correlated with high levels of work-life imbalance. However, results also indicated that cultural origin did not moderate the relationship between workaholism and work-life imbalance, and there was no significant mean difference between Caucasian and Black participants on our measure of workaholism. These findings are important in that it is essential for employers to be aware of workaholic tendencies so they can better handle the negative consequences that result for the organization, and to also help promote the well-being of their employees. En los últimos años la adicción al trabajo se ha vuelto muy popular en las organizaciones y ha capturado la atención tanto de líderes organizacionales, así como de las comunidades científicas y académicas. La mayoría de investigaciones en esta área se han focalizado en las consequencias negativas de la adicción al trabajo (workoholismo), espec

  2. Workaholism and work-life imbalance: does cultural origin influence the relationship?

    Science.gov (United States)

    Aziz, Shahnaz; Adkins, Carrie T; Walker, Alan G; Wuensch, Karl L

    2010-02-01

    In recent years, workaholism has become prevalent throughout organizations and has captured the attention of organizational leaders as well as the academic and scientific communities. Most research in this area has focused on the negative consequences of workaholism, specifically work-life imbalance. One area of research that has largely been ignored is the potential influence of demographic variables on the relationship between workaholism and work-life imbalance. Therefore, the current study focused on how cultural origin might influence the intensity of this relationship. Based on relative deprivation theory and previous empirical work, it was expected that cultural origin would moderate the relationship between workaholism and work-life imbalance. Specifically, it was predicted that Caucasian participants would score higher on levels of workaholism than Black participants, and that the relationship between workaholism and work-life imbalance would be stronger for Caucasians than for Blacks. The results revealed that high levels of workaholism were significantly correlated with high levels of work-life imbalance. However, results also indicated that cultural origin did not moderate the relationship between workaholism and work-life imbalance, and there was no significant mean difference between Caucasian and Black participants on our measure of workaholism. These findings are important in that it is essential for employers to be aware of workaholic tendencies so they can better handle the negative consequences that result for the organization, and to also help promote the well-being of their employees. En los últimos años la adicción al trabajo se ha vuelto muy popular en las organizaciones y ha capturado la atención tanto de líderes organizacionales, así como de las comunidades científicas y académicas. La mayoría de investigaciones en esta área se han focalizado en las consequencias negativas de la adicción al trabajo (workoholismo), espec

  3. Characterization of new allele influencing flowering time in bread wheat introgressed from Triticum militinae.

    Science.gov (United States)

    Ivaničová, Zuzana; Jakobson, Irena; Reis, Diana; Šafář, Jan; Milec, Zbyněk; Abrouk, Michael; Doležel, Jaroslav; Järve, Kadri; Valárik, Miroslav

    2016-09-25

    Flowering time variation was identified within a mapping population of doubled haploid lines developed from a cross between the introgressive line 8.1 and spring bread wheat cv. Tähti. The line 8.1 carried introgressions from tetraploid Triticum militinae in the cv. Tähti genetic background on chromosomes 1A, 2A, 4A, 5A, 7A, 1B and 5B. The most significant QTL for the flowering time variation was identified within the introgressed region on chromosome 5A and its largest effect was associated with the VRN-A1 locus, accounting for up to 70% of phenotypic variance. The allele of T. militinae origin was designated as VRN-A1f-like. The effect of the VRN-A1f-like allele was verified in two other mapping populations. QTL analysis identified that in cv. Tähti and cv. Mooni genetic background, VRN-A1f-like allele incurred a delay of 1.9-18.6 days in flowering time, depending on growing conditions. Sequence comparison of the VRN-A1f-like and VRN-A1a alleles from the parental lines of the mapping populations revealed major mutations in the promoter region as well as in the first intron, including insertion of a MITE element and a large deletion. The sequence variation allowed construction of specific diagnostic PCR markers for VRN-A1f-like allele determination. Identification and quantification of the effect of the VRN-A1f-like allele offers a useful tool for wheat breeding and for studying fine-scale regulation of flowering pathways in wheat. PMID:26899284

  4. Correlation between carboxylesterase alleles and insecticide resistance in Culex pipiens complex from China

    Directory of Open Access Journals (Sweden)

    Liu Yangyang

    2011-12-01

    Full Text Available Abstract Background In China, large amounts of chemical insecticides are applied in fields or indoors every year, directly or indirectly bringing selection pressure on vector mosquitoes. Culex pipiens complex has evolved to be resistant to all types of chemical insecticides, especially organophosphates, through carboxylesterases. Six resistant carboxylesterase alleles (Ester were recorded previously and sometimes co-existed in one field population, representing a complex situation for the evolution of Ester genes. Results In order to explore the evolutionary scenario, we analyzed the data from an historical record in 2003 and a recent investigation on five Culex pipiens pallens populations sampled from north China in 2010. Insecticide bioassays showed that these five populations had high resistance to pyrethroids, medium resistance to organophosphates, and low resistance to carbamates. Six types of Ester alleles, EsterB1, Ester2, Ester8, Ester9, EsterB10, and Ester11 were identified, and the overall pattern of their frequencies in geographic distribution was consistent with the report seven years prior to this study. Statistical correlation analysis indicated that Ester8 and Ester9 positively correlated with resistance to four insecticides, and EsterB10 to one insecticide. The occurrences of these three alleles were positively correlated, while the occurrence of EsterB1 was negatively correlated with Ester8, indicating an allelic competition. Conclusion Our analysis suggests that one insecticide can select multiple Ester alleles and one Ester allele can work on multiple insecticides. The evolutionary scenario of carboxylesterases under insecticide selection is possibly "one to many".

  5. Geographical distribution of GmTfl1 alleles in Chinese soybean varieties

    Institute of Scientific and Technical Information of China (English)

    Guifeng; Liu; Lin; Zhao; Benjamin; J.Averitt; Ying; Liu; Bo; Zhang; Ruzhen; Chang; Yansong; Ma; Xiaoyan; Luan; Rongxia; Guan; Lijuan; Qiu

    2015-01-01

    Stem growth habit is an important agronomic trait in soybean and is subject to artificial selection. This study aimed to provide a theory for genotypic selection of stem growth habit for breeding purposes by analyzing the alleles of Gm Tfl1 gene in Chinese soybean varieties and establishing a database of Gm Tfl1 variation. Using knowledge of insertion and deletion(Indel) in the non-coding region and four single-nucleotide polymorphisms(SNPs) in the coding sequences of the Gm Tfl1 gene, four CAPS and one Indel markers were developed and used to test 1120 Chinese soybean varieties. We found that the dominant Gm Tfl1 allele was prevalent in accessions from the Northern ecoregion, whereas the recessive allele, Gmtfl1, was more common in the Southern ecoregion, and the proportions of Gm Tfl1 and recessive alleles were respectively 40.1% and 59.9% in the Huang-Huai ecoregion. The proportion of Gm Tfl1 decreased and that of Gmtfl1 increased, gradually from north to south. Allele Gm Tfl1-a was present in higher proportions in the Huang-Huai spring, Huang-Huai summer, and Northern spring sub-ecoregions than that in the other sub-ecoregions. Gm Tfl1-b was common in the Northeast spring, Northern spring and Southern summer sub-ecoregions. Gmtfl1-ta was found mainly in the Huang-Huai spring,Huang-Huai summer and Southern spring sub-ecoregions. The Gmtfl1-ab allele was distributed in all six soybean sub-ecoregions. The Gmtfl1-bb allele was distributed mainly in the Huang-Huai spring and summer and Southern spring and summer sub-ecoregions,but the Gmtfl1-tb allele was detected only in the Huang-Huai summer sub-ecoregion. The distributions of Gm Tfl1 and Gmtfl1 have shown no large changes in nearly 60 years of breeding, but the frequency of the recessive genotype Gmtfl1 has shown a rising trend in the last 20 years. This study provides a theoretical foundation for breeding new soybean varieties for different ecoregions.

  6. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

    Directory of Open Access Journals (Sweden)

    D'Urso Michele

    2007-04-01

    Full Text Available Abstract Background The association between premature ovarian failure (POF and the FMR1 repeat number (41> CGGnFMR1 alleles. Case presentation We describe the coexistence in a large Italian kindred of Fragile X syndrome and familial POF in females with ovarian dysfunctions who carried normal or expanded FMR1 alleles. Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61–200, of which two were also affected by POF. However a young woman, who presented a severe ovarian failure with early onset, carried normal FMR1 alleles ( Conclusion Our case study represents a helpful observation and will provide familial cases with heterogeneous etiology that could be further studied when candidate genes in addition to the FMR1 premutation will be available.

  7. Molecular analysis of chloroquine and sulfadoxine-pyrimethamine resistance-associated alleles in Plasmodium falciparum isolates from Nicaragua.

    Science.gov (United States)

    Sridaran, Sankar; Rodriguez, Betzabe; Soto, Aida Mercedes; Macedo De Oliveira, Alexandre; Udhayakumar, Venkatachalam

    2014-05-01

    Chloroquine (CQ) is used as a first-line therapy for the treatment of Plasmodium falciparum malaria in Nicaragua. We investigated the prevalence of molecular markers associated with CQ and sulfadoxine-pyrimethamine (SP) resistance in P. falciparum isolates obtained from the North Atlantic Autonomous Region of Nicaragua. Blood spots for this study were made available from a CQ and SP drug efficacy trial conducted in 2005 and also from a surveillance study performed in 2011. Polymorphisms in P. falciparum CQ resistance transporter, dihydrofolate reductase, and dihydropteroate synthase gene loci that are associated with resistance to CQ, pyrimethamine, and sulfadoxine, respectively, were detected by DNA sequencing. In the 2005 dataset, only 2 of 53 isolates had a CQ resistance allele (CVIET), 2 of 52 had a pyrimethamine resistance allele, and 1 of 49 had a sulfadoxine resistance allele. In the 2011 dataset, none of 45 isolates analyzed had CQ or SP resistance alleles.

  8. Imbalance of Th17/Tregs in rats with smoke inhalation-induced acute lung injury

    Science.gov (United States)

    Zhang, Fan; Li, Mian-yang; Lan, Ya-ting; Wang, Cheng-bin

    2016-01-01

    T helper (Th) 17 cells and CD4+ CD25+ regulatory T (Treg) cells are supposed to be critically involved in regulating autoimmune and inflammatory diseases. The aim of this study was to investigate the Th17/Treg pattern in rats with gunpowder smog-induced acute lung injury. Wistar rats were equally randomized to three groups: normal control group, ALI 6 h group (smoke inhalation for 6 h) and ALI 24 h group (smoke inhalation for 24 h). We observed changes in cell counting in bronchoalveolar lavage fluid (BALF), alveolar-capillary membrane permeability and lung tissue pathology. Moreover, rats in ALI 6 h and ALI 24 h group showed increased expression of Th17 cell and related cytokines (IL-17 A, IL-6, TGF-β and IL-23). Meanwhile, Treg prevalence and related cytokines (IL-10, IL-2 and IL-35) were decreased. Consequently, the ratio of Th17/Treg was higher after smoke inhalation. Additionally, Th1 cell decreased while Th2 cell increased at 6 h and 24 h after smoke inhalation. In conclusion, Th17/Treg imbalance exists in rats with smoke inhalation-induced acute lung injury, suggesting its potential role in the pathogenesis of this disease. PMID:26884314

  9. Signs of cardiac autonomic imbalance and proarrhythmic remodeling in FTO deficient mice.

    Directory of Open Access Journals (Sweden)

    Luca Carnevali

    Full Text Available In humans, variants of the fat mass and obesity associated (FTO gene have recently been associated with obesity. However, the physiological function of FTO is not well defined. Previous investigations in mice have linked FTO deficiency to growth retardation, loss of white adipose tissue, increased energy metabolism and enhanced systemic sympathetic activation. In this study we investigated for the first time the effects of global knockout of the mouse FTO gene on cardiac function and its autonomic neural regulation. ECG recordings were acquired via radiotelemetry in homozygous knockout (n = 12 and wild-type (n = 8 mice during resting and stress conditions, and analyzed by means of time- and frequency-domain indexes of heart rate variability. In the same animals, cardiac electrophysiological properties (assessed by epicardial mapping and structural characteristics were investigated. Our data indicate that FTO knockout mice were characterized by (i higher heart rate values during resting and stress conditions, (ii heart rate variability changes (increased LF to HF ratio, (iii larger vulnerability to stress-induced tachyarrhythmias, (iv altered ventricular repolarization, and (v cardiac hypertrophy compared to wild-type counterparts. We conclude that FTO deficiency in mice leads to an imbalance of the autonomic neural modulation of cardiac function in the sympathetic direction and to a potentially proarrhythmic remodeling of electrical and structural properties of the heart.

  10. Correlation between endothelia cells activation and imbalance of cytokines in pulmonary hypertension of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objective To explore the correlation between endothelia cells activation and cytokines (ET-1, NO) levels in patients with pulmonary hypertension (PH), and to discuss their roles in the development of PH. Methods Twenty patients with simple ventricular septal defect (VSD) were chosen as controls, and 30 patients with PH were studied. Plasma levels of ET-1 and NO were measured by radioimmunoassay or colorimetric method. Before cardiopulmonary bypass was established, the specimens from right lung were fixed with formaldehyde solution, embedded with paraffin and stained by SP immunohistochemistry. Intercellular adhesion molecule-1 (ICAM-1) expression was measured through the determination of the light density with computer imaging technology. Results Compared with that of the patients with simple VSD, the light density of ICAM-1 and plasma level of ET-1 increased in patients with PH; but plasma level of NO decreased (P<0.05). Positive correlation was observed between ICAM-1 and ET-1/NO (P<0.05). Conclusion Endothelia cells activation and imbalance of ET-1/NO might play an important role in the development of PH.

  11. Naturopathy and yoga in ameliorating multiple hormonal imbalance: a single case report

    Directory of Open Access Journals (Sweden)

    Pradeep M.K. Nair

    2016-03-01

    Full Text Available Hormonal imbalances are common among the women who are in the halfway of their reproductive age. There are lot of factors like stress, diet, lifestyle etc. which contributes to this hormonal dysfunctions. However these factors are merely addressed by the existing management strategies. A 37 year old female presented with hypothyroidism and associated hyperprolactinemia had undergone Naturopathy and yoga interventions for a period of 18 months. Her baseline TSH and prolactin levels were 9.2 U/ml and 34 ng/ml respectively. Her anti-mullerian hormone (AMH levels also fell down to 0.3 ng/ml. Naturopathy and yoga based lifestyle interventions including hydrotherapy, mud therapy, yoga therapy and acupuncture were given for different durations has streamlined the hormone levels to normal range (TSH-4.6 U/ml, prolactin- 19.6 ng/ml, AMH-2.6 ng/ml. The results indicate that naturopathy and yoga has a positive role in reinstating the hormonal homeostasis. However large scale studies are warranted to bestow better care. [Int J Reprod Contracept Obstet Gynecol 2016; 5(3.000: 916-918

  12. Power amplifier linearization technique with IQ imbalance and crosstalk compensation for broadband MIMO-OFDM transmitters

    Directory of Open Access Journals (Sweden)

    Werner Stefan

    2011-01-01

    Full Text Available Abstract The design of predistortion techniques for broadband multiple input multiple output-OFDM (MIMO-OFDM systems raises several implementation challenges. First, the large bandwidth of the OFDM signal requires the introduction of memory effects in the PD model. In addition, it is usual to consider an imbalanced in-phase and quadrature (IQ modulator to translate the predistorted baseband signal to RF. Furthermore, the coupling effects, which occur when the MIMO paths are implemented in the same reduced size chipset, cannot be avoided in MIMO transceivers structures. This study proposes a MIMO-PD system that linearizes the power amplifier response and compensates nonlinear crosstalk and IQ imbalance effects for each branch of the multiantenna system. Efficient recursive algorithms are presented to estimate the complete MIMO-PD coefficients. The algorithms avoid the high computational complexity in previous solutions based on least squares estimation. The performance of the proposed MIMO-PD structure is validated by simulations using a two-transmitter antenna MIMO system. Error vector magnitude and adjacent channel power ratio are evaluated showing significant improvement compared with conventional MIMO-PD systems.

  13. Allelic variants of melanocortin 3 receptor gene (MC3R) and weight loss in obesity

    DEFF Research Database (Denmark)

    L. Santos, José; De la Cruz, Rolando; Holst, Claus;

    2011-01-01

    receptor gene (MC3R) have been associated with childhood obesity, higher BMI Z-score and elevated body fat percentage compared to non-carriers. The aim of this study is to assess the association in adults between allelic variants of MC3R with weight loss induced by energy-restricted diets....

  14. Outage Analysis of PLNC Based Bidirectional Relay Network in the presence of I/Q Imbalance

    Directory of Open Access Journals (Sweden)

    V.N.Senthil Kumaran

    2014-08-01

    Full Text Available Bidirectional relay network consists of two sources and a relay, where each node has a single antenna and operates in half duplex mode. The PLNC based OFDM system transmits numerous high data streams through narrow band flat fading subchannels to achieve high spectral efficiency over wide band channels. However in practice, I/Q imbalance is introduced at the radio frequency sections of the nodes affects the orthogonality among the subcarriers. In this paper, the bidirectional relay network is modelled with I/Q imbalance and the outage performance of Orthogonal Frequency Division Multiplexing (OFDM based bidirectional relay network which employs physical layer network coding (PLNC is analyzed in the presence of In-phase and Quadrature (I/Q imbalance at both the time slots.

  15. DPA1*02012: A DPA1*0201-related Mhc class II allele in West Africa

    Energy Technology Data Exchange (ETDEWEB)

    Meyer, C.G.; May, J.; Spauke, D.; Schnittger, L. [Bernhard Nocht Institute for Tropical Medicine, Hamburg (Germany)

    1994-12-31

    DNA techniques such as sequence-specific oligonucleotide probe (SSOP) hybridizations, restriction-fragment length polymorphism (RFLP) analyses, and DNA sequencing have greatly supported the characterization of Mhc class II allelic polymorphism. Here the authors describe a DPA 1 allele which has been identified in two male individuals from Liberia and Benin, West Africa, during a survey study on Mhc class II associations with the different manifestations after infection with Onchocerca volvulus. 4 refs., 1 fig.

  16. Amorphous silica nanoparticles trigger nitric oxide/peroxynitrite imbalance in human endothelial cells: inflammatory and cytotoxic effects

    Directory of Open Access Journals (Sweden)

    Corbalan JJ

    2011-11-01

    Full Text Available J Jose Corbalan1,2, Carlos Medina1, Adam Jacoby2, Tadeusz Malinski2, Marek W Radomski11School of Pharmacy and Pharmaceutical Sciences, Faculty of Health Sciences, Panoz Institute, Trinity College Dublin, Dublin, Ireland; 2Department of Chemistry and Biochemistry, Ohio University, Athens, OH, USABackground: The purpose of this study was to investigate the mechanism of noxious effects of amorphous silica nanoparticles on human endothelial cells.Methods: Nanoparticle uptake was examined by transmission electron microscopy. Electrochemical nanosensors were used to measure the nitric oxide (NO and peroxynitrite (ONOO- released by a single cell upon nanoparticle stimulation. The downstream inflammatory effects were measured by an enzyme-linked immunosorbent assay, real-time quantitative polymerase chain reaction, and flow cytometry, and cytotoxicity was measured by lactate dehydrogenase assay.Results: We found that the silica nanoparticles penetrated the plasma membrane and rapidly stimulated release of cytoprotective NO and, to a greater extent, production of cytotoxic ONOO-. The low [NO]/[ONOO-] ratio indicated increased nitroxidative/oxidative stress and correlated closely with endothelial inflammation and necrosis. This imbalance was associated with nuclear factor κB activation, upregulation of key inflammatory factors, and cell death. These effects were observed in a nanoparticle size-dependent and concentration-dependent manner.Conclusion: The [NO]/[ONOO-] imbalance induced by amorphous silica nanoparticles indicates a potentially deleterious effect of silica nanoparticles on vascular endothelium.Keywords: amorphous silica nanoparticles, nanotoxicology, nitric oxide, peroxynitrite, inflammation, risk factors

  17. Amorphous silica nanoparticles trigger nitric oxide/peroxynitrite imbalance in human endothelial cells: inflammatory and cytotoxic effects

    Science.gov (United States)

    Corbalan, J Jose; Medina, Carlos; Jacoby, Adam; Malinski, Tadeusz; Radomski, Marek W

    2011-01-01

    Background The purpose of this study was to investigate the mechanism of noxious effects of amorphous silica nanoparticles on human endothelial cells. Methods Nanoparticle uptake was examined by transmission electron microscopy. Electrochemical nanosensors were used to measure the nitric oxide (NO) and peroxynitrite (ONOO−) released by a single cell upon nanoparticle stimulation. The downstream inflammatory effects were measured by an enzyme-linked immunosorbent assay, real-time quantitative polymerase chain reaction, and flow cytometry, and cytotoxicity was measured by lactate dehydrogenase assay. Results We found that the silica nanoparticles penetrated the plasma membrane and rapidly stimulated release of cytoprotective NO and, to a greater extent, production of cytotoxic ONOO−. The low [NO]/[ONOO−] ratio indicated increased nitroxidative/oxidative stress and correlated closely with endothelial inflammation and necrosis. This imbalance was associated with nuclear factor κB activation, upregulation of key inflammatory factors, and cell death. These effects were observed in a nanoparticle size-dependent and concentration-dependent manner. Conclusion The [NO]/[ONOO−] imbalance induced by amorphous silica nanoparticles indicates a potentially deleterious effect of silica nanoparticles on vascular endothelium. PMID:22131828

  18. Imbalances in serum angiopoietin concentrations are early predictors of septic shock development in patients with post chemotherapy febrile neutropenia

    Directory of Open Access Journals (Sweden)

    Lorand-Metze Irene

    2010-05-01

    Full Text Available Abstract Background Febrile neutropenia carries a high risk of sepsis complications, and the identification of biomarkers capable to identify high risk patients is a great challenge. Angiopoietins (Ang - are cytokines involved in the control microvascular permeability. It is accepted that Ang-1 expression maintains endothelial barrier integrity, and that Ang-2 acts as an antagonizing cytokine with barrier-disrupting functions in inflammatory situations. Ang-2 levels have been recently correlated with sepsis mortality in intensive care units. Methods We prospectively evaluated concentrations of Ang-1 and Ang-2 at different time-points during febrile neutropenia, and explored the diagnostic accuracy of these mediators as potential predictors of poor outcome in this clinical setting before the development of sepsis complications. Results Patients that evolved with septic shock (n = 10 presented higher levels of Ang-2 measured 48 hours after fever onset, and of the Ang-2/Ang-1 ratio at the time of fever onset compared to patients with non-complicated sepsis (n = 31. These levels correlated with sepsis severity scores. Conclusions Our data suggest that imbalances in the concentrations of Ang-1 and Ang-2 are independent and early markers of the risk of developing septic shock and of sepsis mortality in febrile neutropenia, and larger studies are warranted to validate their clinical usefulness. Therapeutic strategies that manipulate this Ang-2/Ang-1 imbalance can potentially offer new and promising treatments for sepsis in febrile neutropenia.

  19. Multi-hop amplify-and-forward relaying cooperation in the presence of I/Q imbalance

    KAUST Repository

    Qi, Jian

    2013-06-01

    In this paper, multi-hop cooperative networks implementing channel state information (CSI)-assisted amplify-and-forward (AF) relaying in the presence of in-phase and quadrature-phase (I/Q) imbalance are investigated. We propose a compensation algorithm for the I/Q imbalance. The performance of the multi-hop CSI-assisted AF cooperative networks with and without compensation for I/Q imbalance in Nakagami-m fading environment is evaluated in terms of average symbol error probability. Numerical results are provided and show that the proposed compensation method can effectively mitigate the impact of I/Q imbalance. © 2013 IEEE.

  20. Automatic IQ Imbalance Compensation Technique for Quadrature Modulator by Single-Tone Testing

    Science.gov (United States)

    Kim, Minseok; Konishi, Yohei; Takada, Jun-Ichi; Gao, Boxin

    This letter proposes an automatic IQ imbalance compensation technique for quadrature modulators by means of spectrum measurement of RF signal using a spectrum analyzer. The analyzer feeds back only magnitude information of the frequency spectrum of the signal. To realize IQ imbalance compensation, the conventional method of steepest descent is modified; the descent direction is empirically determined and a variable step-size is introduced for accelerating convergence. The experimental results for a four-channel transmitter operating at 11GHz are presented for verification.

  1. Probing nuclear effects using single-transverse kinematic imbalance with MINERvA

    CERN Document Server

    Lu, X -G

    2016-01-01

    Kinematic imbalance of the final-state particles in the plane transverse to the neutrino direction provides a sensitive probe of nuclear effects. In this contribution, we report the MINERvA measurement of the single-transverse kinematic imbalance in neutrino charged-current quasielastic-like events on CH targets. To improve the momentum measurements of the final-state particles, we develop a method to select elastically scattering contained (ESC) protons and a general procedure to correct the transverse momentum scales.

  2. Photonic microwave quadrature filter with low phase imbalance and high signal-to-noise ratio performance.

    Science.gov (United States)

    Cao, Yuan; Chan, Erwin H W; Wang, Xudong; Feng, Xinhuan; Guan, Bai-ou

    2015-10-15

    A photonic microwave quadrature filter is presented. It has a very simple structure, very low phase imbalance, and high signal-to-noise ratio performance. Experimental results are presented that demonstrate a photonic microwave quadrature filter with a 3 dB operating frequency range of 10.5-26.5 GHz, an amplitude and phase imbalance of less than ±0.3  dB and ±0.15°, and a signal-to-noise ratio of more than 121 dB in a 1 Hz noise bandwidth. PMID:26469589

  3. To be or not to be the odd one out - Allele-specific transcription in pentaploid dogroses (Rosa L. sect. Caninae (DC. Ser

    Directory of Open Access Journals (Sweden)

    Theißen Günter

    2011-02-01

    Full Text Available Abstract Background Multiple hybridization events gave rise to pentaploid dogroses which can reproduce sexually despite their uneven ploidy level by the unique canina meiosis. Two homologous chromosome sets are involved in bivalent formation and are transmitted by the haploid pollen grains and the tetraploid egg cells. In addition the egg cells contain three sets of univalent chromosomes which are excluded from recombination. In this study we investigated whether differential behavior of chromosomes as bivalents or univalents is reflected by sequence divergence or transcription intensity between homeologous alleles of two single copy genes (LEAFY, cGAPDH and one ribosomal DNA locus (nrITS. Results We detected a maximum number of four different alleles of all investigated loci in pentaploid dogroses and identified the respective allele with two copies, which is presumably located on bivalent forming chromosomes. For the alleles of the ribosomal DNA locus and cGAPDH only slight, if any, differential transcription was determined, whereas the LEAFY alleles with one copy were found to be significantly stronger expressed than the LEAFY allele with two copies. Moreover, we found for the three marker genes that all alleles have been under similar regimes of purifying selection. Conclusions Analyses of both molecular sequence evolution and expression patterns did not support the hypothesis that unique alleles probably located on non-recombining chromosomes are less functional than duplicate alleles presumably located on recombining chromosomes.

  4. Frequency of CCR5Δ32 allele in healthy Bosniak population.

    Directory of Open Access Journals (Sweden)

    Grażyna Adler

    2014-08-01

    Full Text Available Recent evidence has demonstrated the role of CCR5Δ32 in a variety of human diseases: from infectious and inflammatory diseases to cancer. Several studies have confirmed that genetic variants in chemokine receptor CCR5 gene are correlated with susceptibility and resistance to HIV infection. A 32-nucleotide deletion within the CCR5 reading frame is associated with decreased susceptibility to HIV acquisition and a slower progression to AIDS. Mean frequency of CCR5Δ32 allele in Europe is approximately 10%. The highest allele frequency is observed among Nordic populations (about 12% and lower in the regions of Southeast Mediterranean (about 5%. Although the frequency of CCR5Δ32 was determined in numerous European populations, there is a lack of studies on this variant in the Bosnia and Hercegovina population. Therefore, the aim of our study was to assess the frequency of CCR5Δ32 allele in the cohort of Bosniaks and compare the results with European reports. CCR5Δ32 was detected by sequence-specific PCR in a sample of 100 healthy subjects from Bosnia and Herzegovina (DNA collected 2011-2013.  Mean age of the cohort being 58.8 (±10.7 years, with 82% of women. We identified 17 heterozygotes and one mutant homozygote in study group, with mean ∆32 allele frequency of 9.5%. CCR5∆32 allele frequency among Bosniaks is comparable to that found in Caucasian populations and follows the pattern of the north-southern gradient observed for Europe. Further studies on larger cohorts with adequate female-to-male ratio are necessary. 

  5. Imbalance of Fecal Microbiota at Newly Diagnosed Type 1 Diabetes in Chinese Children

    Institute of Scientific and Technical Information of China (English)

    Cui-Juan Qi; Qian Zhang; Miao Yu; Jian-Ping Xu; Jia Zheng; Tong Wang; Xin-Hua Xiao

    2016-01-01

    Background:Recent studies have indicated that an imbalance of gut microbiota is associated with the development of type 1 diabetes mellitus (T1DM) and there is no literature regarding it in Chinese children yet.The aim of this study was to evaluate the alteration of gut microbiota between children with newly diagnosed T 1DM and healthy controls and to determine if gut microbiota could partly explain the etiology of this disease.Methods:A case-control study was carried out with 15 children with T 1DM and 15 healthy children.The fecal bacteria composition was investigated by high-throughput sequencing of the V3-V4 region of the 16S rDNA gene and analyzed by the estimators of community richness (Chao) indexes.Results:There was a notable lower richness of fecal bacteria in T 1DM group than controls (156.53 ± 36.96 vs.130.0 ± 32.85,P =0.047).At the genus level,the composition of Blautia was increased in T 1DM group than control group whereas the composition of Haemophilus,Lachnospira,Dialister,and Acidaminococcus was decreased.In addition,we found that the percentage of Blautia was correlated positively with HbAlc (p =0.40,P =0.031),the numbers of T1DM autoantibodies (p =0.42,P =0.023),and the titers of tyrosine phosphatase autoantibodies (IA-2) (p =0.82,P =0.000) in the study.Conclusions:This study showed that gut microbiota was associated with the development of T1DM by affecting the autoimmunity,and the results suggested a potential therapy for T1DM via modulating the gut microbiota.

  6. Allelic exclusion of immunoglobulin genes: models and mechanisms.

    Science.gov (United States)

    Vettermann, Christian; Schlissel, Mark S

    2010-09-01

    The allelic exclusion of immunoglobulin (Ig) genes is one of the most evolutionarily conserved features of the adaptive immune system and underlies the monospecificity of B cells. While much has been learned about how Ig allelic exclusion is established during B-cell development, the relevance of monospecificity to B-cell function remains enigmatic. Here, we review the theoretical models that have been proposed to explain the establishment of Ig allelic exclusion and focus on the molecular mechanisms utilized by developing B cells to ensure the monoallelic expression of Ig kappa and Ig lambda light chain genes. We also discuss the physiological consequences of Ig allelic exclusion and speculate on the importance of monospecificity of B cells for immune recognition.

  7. Identification of incompatibility alleles in the tetraploid species sour cherry.

    Science.gov (United States)

    Tobutt, K R; Bosković, R; Cerović, R; Sonneveld, T; Ruzić, D

    2004-03-01

    The incompatibility genetics of sour cherry ( Prunus cerasus), an allotetraploid species thought to be derived from sweet cherry (diploid) and ground cherry (tetraploid), were investigated by test crossing and by analysis of stylar ribonucleases which are known to be the products of incompatibility alleles in sweet cherry. Stylar extracts of 36 accessions of sour cherry were separated electrophoretically and stained for ribonuclease activity. The zymograms of most accessions showed three bands, some two or four. Of the ten bands seen, six co-migrated with bands that in sweet cherry are attributed to the incompatibility alleles S(1), S(3), S(4), S(6, ) S(9) and S(13). 'Cacanski Rubin', 'Erdi Botermo B', 'Koros' and 'Ujfehertoi Furtos', which showed bands apparently corresponding to S(1) and S(4), were test pollinated with the sweet cherry 'Merton Late' ( S(1) S(4)). Monitoring pollen tube growth, and, in one case, fruit set, showed that these crosses were incompatible and that the four sour cherries indeed have the alleles S(1) and S(4). Likewise, test pollination of 'Marasca Piemonte', 'Marasca Savena' and 'Morello, Dutch' with 'Noble' ( S(6) S(13)) showed that these three sour cherries have the alleles S(6) and S(13). S(13) was very frequent in sour cherry cultivars, but is rare in sweet cherry cultivars, whereas with S(3) the situation is reversed. It was suggested that the other four bands are derived from ground cherry and one of these, provisionally attributed to S(B), occurred frequently in a small set of ground cherry accessions surveyed. Analysing some progenies from sour by sweet crosses by S allele-specific PCR and monitoring the success of some sweet by sour crosses were informative. They indicated mostly disomic inheritance, with sweet cherry S alleles belonging to one locus and, presumably, the ground cherry alleles to the other, and helped clarify the genomic arrangement of the alleles and the interactions in heteroallelic pollen. PMID:14689184

  8. MASTR: A Technique for Mosaic Mutant Analysis with Spatial and Temporal Control of Recombination Using Conditional Floxed Alleles in Mice

    Directory of Open Access Journals (Sweden)

    Zhimin Lao

    2012-08-01

    Full Text Available Mosaic mutant analysis, the study of cellular defects in scattered mutant cells in a wild-type environment, is a powerful approach for identifying critical functions of genes and has been applied extensively to invertebrate model organisms. A highly versatile technique has been developed in mouse: MASTR (mosaic mutant analysis with spatial and temporal control of recombination, which utilizes the increasing number of floxed alleles and simultaneously combines conditional gene mutagenesis and cell marking for fate analysis. A targeted allele (R26MASTR was engineered; the allele expresses a GFPcre fusion protein following FLP-mediated recombination, which serves the dual function of deleting floxed alleles and marking mutant cells with GFP. Within 24 hr of tamoxifen administration to R26MASTR mice carrying an inducible FlpoER transgene and a floxed allele, nearly all GFP-expressing cells have a mutant allele. The fate of single cells lacking FGF8 or SHH signaling in the developing hindbrain was analyzed using MASTR, and it was revealed that there is only a short time window when neural progenitors require FGFR1 for viability and that granule cell precursors differentiate rapidly when SMO is lost. MASTR is a powerful tool that provides cell-type-specific (spatial and temporal marking of mosaic mutant cells and is broadly applicable to developmental, cancer, and adult stem cell studies.

  9. Crop-to-weed introgression has impacted allelic composition of johnsongrass populations with and without recent exposure to cultivated sorghum.

    Science.gov (United States)

    Morrell, P L; Williams-Coplin, T D; Lattu, A L; Bowers, J E; Chandler, J M; Paterson, A H

    2005-06-01

    Sorghum halepense L. (johnsongrass) is one of the world's most noxious weeds, and a paradigm for the potential dangers of crop-weed hybridization. Introduced into the southeastern United States about 200 years ago, S. halepense is a close relative of cultivated sorghum (Sorghum bicolor). Both artificial crossing and experimental field studies have demonstrated the potential for S. halepensex S. bicolor hybrid formation, but no prior study has addressed the long-term persistence of sorghum genes in johnsongrass populations. We surveyed 283 loci (on all 10 sorghum linkage groups) to identify 77 alleles at 69 loci that are found in US sorghum cultivars but are absent from a worldwide sampling of johnsongrass genotypes. These putatively cultivar-specific alleles were present in up to 32.3% of individuals in johnsongrass populations adjacent to long-term sorghum production fields in Texas and Nebraska. Lower frequencies of cultivar-specific alleles at smaller numbers of loci are found in johnsongrass populations from New Jersey and Georgia with no recent exposure to cultivated sorghum, suggesting that introgressed sorghum alleles may be dispersed across long distances. The number of cultivar-specific alleles and extensive multilocus patterns of cultivar-specific allelic composition observed at both linked and unlinked loci in the johnsongrass populations, are inconsistent with alternatives to introgression such as convergence, or joint retention of ancestral polymorphisms. Naturalized johnsongrass populations appear to provide a conduit by which transgenes from sorghum could become widely disseminated.

  10. HLA-E(⁎)01:03 Allele in Lung Transplant Recipients Correlates with Higher Chronic Lung Allograft Dysfunction Occurrence.

    Science.gov (United States)

    Di Cristofaro, Julie; Pelardy, Mathieu; Loundou, Anderson; Basire, Agnès; Gomez, Carine; Chiaroni, Jacques; Thomas, Pascal; Reynaud-Gaubert, Martine; Picard, Christophe

    2016-01-01

    Lung transplantation (LTx) is a valid therapeutic option for selected patients with end-stage lung disease. HLA-E seems to play a major role in the immune response to different viral infections and to affect transplantation outcome, in Hematopoietic Stem Cell Transplantation, for example. Two nonsynonymous alleles, HLA-E(⁎)01:01 and HLA-E(⁎)01:03, have functional differences, involving relative peptide affinity, cell surface expression, and potential lytic activity of NK cells. The aim of this retrospective study was to determine the impact of these two alleles for LTx recipients on anti-HLA alloimmunization risk, overall survival, and chronic rejection (CLAD). HLA-E was genotyped in 119 recipients who underwent LTx from 1998 to 2010 in a single transplantation center. In univariate analysis, both HLA-E homozygous states were associated with impaired overall survival compared to heterozygous HLA-E alleles (p = 0.01). In multivariate analysis, HLA-E(⁎)01:03 allele showed increased CLAD occurrence when compared to homozygous HLA-E(⁎)01:01 status (HR: 3.563 (CI 95%, 1.016-12), p = 0.047). HLA-E allele did not affect pathogen infection or the production of de novo DSA. This retrospective study shows an uninvestigated, deleterious association of HLA-E alleles with LTx and requires verification using a larger cohort. PMID:27493971

  11. HLA-E⁎01:03 Allele in Lung Transplant Recipients Correlates with Higher Chronic Lung Allograft Dysfunction Occurrence

    Directory of Open Access Journals (Sweden)

    Julie Di Cristofaro

    2016-01-01

    Full Text Available Lung transplantation (LTx is a valid therapeutic option for selected patients with end-stage lung disease. HLA-E seems to play a major role in the immune response to different viral infections and to affect transplantation outcome, in Hematopoietic Stem Cell Transplantation, for example. Two nonsynonymous alleles, HLA-E⁎01:01 and HLA-E⁎01:03, have functional differences, involving relative peptide affinity, cell surface expression, and potential lytic activity of NK cells. The aim of this retrospective study was to determine the impact of these two alleles for LTx recipients on anti-HLA alloimmunization risk, overall survival, and chronic rejection (CLAD. HLA-E was genotyped in 119 recipients who underwent LTx from 1998 to 2010 in a single transplantation center. In univariate analysis, both HLA-E homozygous states were associated with impaired overall survival compared to heterozygous HLA-E alleles (p=0.01. In multivariate analysis, HLA-E⁎01:03 allele showed increased CLAD occurrence when compared to homozygous HLA-E⁎01:01 status (HR: 3.563 (CI 95%, 1.016–12, p=0.047. HLA-E allele did not affect pathogen infection or the production of de novo DSA. This retrospective study shows an uninvestigated, deleterious association of HLA-E alleles with LTx and requires verification using a larger cohort.

  12. "HLA Class II Allele and Haplotype Frequencies in Iranian Patients with Acute Myelogenous Leukemia and Control Group "

    Directory of Open Access Journals (Sweden)

    Abdolfattah Sarafnejad

    2006-09-01

    Full Text Available Previous studies have demonstrated some significant differences in HLA allele frequencies in leukemic patients and normal subjects. We have analyzed HLA class II alleles and haplotypes in 60 Iranian patients with acute myelogenous leukemia (AML and 180 unrelated normal subjects. Blood samples were collected after obtaining informed consents. From the patients and control DNA extraction and HLA typing were performed using PCR-SSP method. Significant positive association with the disease was found for HLA-DRB1*11 allele (35% vs. 24.7%, p=0.033. Two alleles including HLA-DRB4 and –DQB1*0303 were found to be significantly decreased in patients compared to controls. Regarding haplotype analysis, no significant association was found between case and control groups. It is suggested that HLA-DRB1*11 allele plays as a presumptive predisposing factor while the HLA-DRB4 and –DQB1*0303 alleles are suggested as protective genetic factors against acute myelogenous leukemia. Larger studies are needed to confirm and establish the role of these associations with acute myelogenous leukemia.

  13. Atorvastatin for Prevention of Amikacin-induced Electrolytes Imbalances; a Randomized Clinical Trial.

    Science.gov (United States)

    Heydari, Behrooz; Khalili, Hossein; Dashti-Khavidaki, Simin; Beig-Mohammadi, Mohammad Taghi; Mohammadi, Mostafa

    2016-01-01

    Aminoglycosides are still widely used for treatment of gram-negative sepsis in critically ill patients. The most reported electrolyte abnormalities related to these drugs are hypokalemia, hypomagnesemia, and hypocalcemia.In this study potential benefit of atorvastatin in prevention of amikacin-induced electrolytes imbalances has been evaluated. In this trial 44 patients were assigned to the atorvastatin or placebo group based on the simple randomization method. Atorvastatin group received amikacinwith dose of 15 mg/kg/day in two equal divided doses every 12 h as intravenous infusion during 30 min and atorvastatin 40 mg tablet as daily oral dose for 7 days. Patients in the placebo group received same dose of amikacinand placebo tablet (Placebo group) for at least 7 days. Serum electrolytes (sodium, potassium, calcium, phosphor and magnesium) concentrations, blood urea nitrogen and serum creatinine levels were measured at day 0 and end of the study. Baseline mean ± SDof serum potassium concentration in the atorvastatin and placebo group was 4.07± 0.37 and 4.15 ± 0.53 meq/l respectively (p=0.88). Serum potassium concentration remained unchanged at the end of the study in the atorvastatin group (P=0.61) but significantly decreased from 4.15 ± 0.53 to 3.80 ± 0.55meq/l in the placebo group at day 7(P = 0.02).In this pilot study, atorvastatin as 40 mg daily oral dose prevented renal potassium loss during course of amikacin therapy in the critically ill patients. In the future well designed randomized clinical trials with adequate sample size,renoprotective effects of statins should be examined. PMID:27642335

  14. Evaluating the Imbalance Between Increasing Hemodialysis Patients and Medical Staff Shortage After the Great East Japan Earthquake: Report From a Hemodialysis Center Near the Fukushima Nuclear Power Plants.

    Science.gov (United States)

    Koshiba, Takaaki; Nishiuchi, Takamitsu; Akaihata, Hidenori; Haga, Nobuhiro; Kojima, Yoshiyuki; Kubo, Hajime; Kasahara, Masato; Hayashi, Masayuki

    2016-04-01

    The Great East Japan Earthquake in 2011 caused an unprecedented imbalance between an increasing number of hemodialysis patients and medical staff shortage in the Sousou area, the site of the Fukushima nuclear power plants. In 2014, capacity of our hemodialysis center reached a critical limit due to such an imbalance. We attempted to evaluate the effort of medical staff to clarify to what extent their burden had increased post-disaster. The ratio of total dialysis sessions over total working days of medical staff was determined as an approximate indicator of effort per month. The mean value of each year was compared. Despite fluctuations of the ratio, the mean value did not differ from 2010 to 2013. However, the ratio steadily increased in 2014, and there was a significant increase in the mean value. This proposed indicator of the effort of medical staff appears to reflect what we experienced, although its validity must be carefully examined in future studies.

  15. Evaluation of a DLA-79 allele associated with multiple immune-mediated diseases in dogs.

    Science.gov (United States)

    Friedenberg, Steven G; Buhrman, Greg; Chdid, Lhoucine; Olby, Natasha J; Olivry, Thierry; Guillaumin, Julien; O'Toole, Theresa; Goggs, Robert; Kennedy, Lorna J; Rose, Robert B; Meurs, Kathryn M

    2016-03-01

    Immune-mediated diseases are common and life-threatening disorders in dogs. Many canine immune-mediated diseases have strong breed predispositions and are believed to be inherited. However, the genetic mutations that cause these diseases are mostly unknown. As many immune-mediated diseases in humans share polymorphisms among a common set of genes, we conducted a candidate gene study of 15 of these genes across four immune-mediated diseases (immune-mediated hemolytic anemia, immune-mediated thrombocytopenia, immune-mediated polyarthritis (IMPA), and atopic dermatitis) in 195 affected and 206 unaffected dogs to assess whether causative or predictive polymorphisms might exist in similar genes in dogs. We demonstrate a strong association (Fisher's exact p = 0.0004 for allelic association, p = 0.0035 for genotypic association) between two polymorphic positions (10 bp apart) in exon 2 of one allele in DLA-79, DLA-79*001:02, and multiple immune-mediated diseases. The frequency of this allele was significantly higher in dogs with immune-mediated disease than in control dogs (0.21 vs. 0.12) and ranged from 0.28 in dogs with IMPA to 0.15 in dogs with atopic dermatitis. This allele has two non-synonymous substitutions (compared with the reference allele, DLA-79*001:01), resulting in F33L and N37D amino acid changes. These mutations occur in the peptide-binding pocket of the protein, and based upon our computational modeling studies, are likely to affect critical interactions with the peptide N-terminus. Further studies are warranted to confirm these findings more broadly and to determine the specific mechanism by which the identified variants alter canine immune system function.

  16. Analysis of Benefits of an Energy Imbalance Market in the NWPP

    Energy Technology Data Exchange (ETDEWEB)

    Samaan, Nader A.; Bayless, Rich; Symonds, Mark; Nguyen, Tony B.; Jin, Chunlian; Wu, Di; Diao, Ruisheng; Makarov, Yuri V.; Kannberg, Landis D.; Guo, Tao; Dennison-Leonard , Sarah; Goodenough, Mike; Schellberg, Ron; Conger, Sid; Harris, Kevin; Rarity, Matt; Wallace, Steven; Austin, Jamie; Noteboom, Rod; Van Blaricom , Tim; McRunnel, Kim; Apperson, John; Empey, Marshall; Etingov, Pavel V.; Warady, Debra; Brush, Ray; Newkirk, Joshua; Williams, Peter; Landauer, Marv; Owen, Hugh; Morter, Wayne; Haraguchi, Keli; Portouw, Jim; Downey, kathryn; Sorey, Steve; Williams, Stan; Gossa, Teyent; Kalich, Clint; Damiano, Patrick; Macarthur, Clay; Martin, Tom; Hoerner, Joe; Knudsen, Steve; Johnson, Anders; Link, Rick; Holcomb, Dennis

    2013-10-18

    The Northwest Power Pool (NWPP) Market Assessment Committee (MC) Initiative, which was officially launched on March 19, 2012, set out to explore a range of alternatives that could help the Balancing Authorities and scheduling utilities in the NWPP area address growing operational and commercial challenges affecting the regional power system. The MC formed an Analytical Team with technical representatives from each of the member Balancing Areas in the NWPP and with staff of Pacific Northwest National Laboratory (PNNL). This Analytical Team was instructed to conduct extensive studies of intra-hour operation of the NWPP system in the year 2020 and of the NWPP region with 14,671 MW of wind penetration. The effort utilized a sub-hourly production cost model (the PLEXOS® computer model) that inputs data from the Western Electricity Coordinating Council (WECC)-wide Production Cost Model (PCM) to evaluate potential production cost savings. The Analytical Team was given two general options to evaluate: •Energy Imbalance Market (EIM): establishment of an automated, organized NWPP area market for economically supplying energy imbalance within the hour. •Enhanced Market-Operational Tools (EMT) that might augment or replace an EIM. The Analytical The Analytical Team built on the WECC-wide PCM data from prior work done in the WECC and carried forward the evolution of the original WECC Transmission Expansion Planning Policy Committee (TEPPC) 2020 PC0 data base. A large number of modifications and improvements were made to this case and the data were subjected to extensive review by the team members to improve the model representation of the Northwest (NW). MC meetings that were open to the public were held for interested parties to review and provide input to the study. Results for the test, base, and sensitivity case studies performed by the MC Initiative Analytical Team indicate that there are a wide range of benefits that could be obtained from the operation of an EIM in

  17. Socio-Cultural Imbalances in AIED Research: Investigations, Implications and Opportunities

    Science.gov (United States)

    Blanchard, Emmanuel G.

    2015-01-01

    This paper investigates international representations in the Artificial Intelligence in Education (AIED) research field. Its methodological and theoretical groundings are inspired by Arnett (2008) and Henrich et al. (2010a) who addressed the same issue in psychology, and respectively a) discovered massive imbalances in representation in top-tier…

  18. Evaluation of electrolyte imbalance among tuberculosis patients receiving treatments in Southwestern Nigeria

    Directory of Open Access Journals (Sweden)

    Adebimpe Wasiu Olalekan

    2015-09-01

    Conclusion: Hyponatraemia, hyperkalaemia, and hypochloremia characterized some of the electrolyte imbalance among TB patients receiving treatments. The raised level of bicarbonate may be attributed to overcorrection of respiratory acidosis often found in patients with tuberculosis. Monitoring electrolytes is therefore an important component of TB management.

  19. Widely Linear Equalization for IQ Imbalance and Skew Compensation in Optical Coherent Receivers

    DEFF Research Database (Denmark)

    Porto da Silva, Edson; Zibar, Darko

    2016-01-01

    In this paper, an alternative approach to design linear equalization algorithms for optical coherent receivers is introduced. Using widely linear complex analysis, a general analytical model it is shown, where In-phase/quadrature (IQ) imbalances and IQ skew at the coherent receiver front-end are ...

  20. Widely Linear Blind Adaptive Equalization for Transmitter IQ-Imbalance/Skew Compensation in Multicarrier Systems

    DEFF Research Database (Denmark)

    Porto da Silva, Edson; Zibar, Darko

    2016-01-01

    Simple analytical widely linear complex-valued models for IQ-imbalance and IQ-skew effects in multicarrier transmitters are presented. To compensate for such effects, a 4×4 MIMO widely linear adaptive equalizer is proposed and experimentally validated....

  1. Quasiparticle Lifetime in Ultracold Fermionic Mixtures with Density and Mass Imbalance

    DEFF Research Database (Denmark)

    Lan, Zhihao; Bruun, Georg; Lobo, Carlos

    2013-01-01

    We show that atomic Fermi mixtures with density and mass imbalance exhibit a rich diversity of scaling laws for the quasiparticle decay rate beyond the quadratic energy and temperature dependence of conventional Fermi liquids. For certain densities and mass ratios, the decay rate is linear, where...

  2. Codigestion of manure and industrial organic waste at centralized biogas plants: process imbalances and limitations

    DEFF Research Database (Denmark)

    Bangsø Nielsen, Henrik; Angelidaki, Irini

    2008-01-01

    conditions) and high fractions of industrial waste in the feedstock was also observed. The process imbalances and suboptimal conditions are mainly allowed to occur due to 1) inadequate knowledge about the waste composition, 2) inadequate knowledge about the waste degradation characteristics, 3) inadequate...

  3. Coping, social support, job satisfaction, and work/life imbalance / Mianda Smith

    OpenAIRE

    Smith, Mianda

    2006-01-01

    This mini dissertation focuses on the effects of coping on job satisfaction when job insecurity is being experienced by a group of managers in a South African mining company. The second part of the dissertation deals with role conflict, goal clarity, and how social support affects work/life imbalance.

  4. Cognitive vulnerability and implicit emotional processing : imbalance in frontolimbic brain areas?

    NARCIS (Netherlands)

    Groenewold, Nynke A.; Roest, Annelieke M.; Renken, Remco J.; Opmeer, Esther M.; Veltman, Dick J.; van der Wee, Nic J. A.; de Jonge, Peter; Aleman, Andre; Harmer, Catherine J.

    2015-01-01

    It has been proposed that the neural basis for cognitive vulnerability to depression involves an imbalance in frontolimbic activity during the processing of cues with a negative affective value. Although the question is central to cognitive theory, whether this association is amplified by diagnosis

  5. Relaxation of the chiral imbalance in dense matter of a neutron star

    CERN Document Server

    Dvornikov, Maxim

    2016-01-01

    Using the quantum field theory methods, we calculate the helicity flip of an electron scattering off protons in dense matter of a neutron star. The influence of the electroweak interaction between electrons and background nucleons on the helicity flip is examined. We also derive the kinetic equation for the chiral imbalance. The derived kinetic equation is compared with the results obtained by other authors.

  6. Compensating active power imbalances in power system with large-scale wind power penetration

    DEFF Research Database (Denmark)

    Basit, Abdul; Hansen, Anca Daniela; Altin, Müfit;

    2016-01-01

    penetration. This paper evaluates the impact oflarge-scale wind power integration on future power systems.An active power balance control methodology is usedfor compensating the power imbalances between thedemand and the generation in real time, caused by windpower forecast errors. The methodology...

  7. SCOREBOARD AND THE POSSIBILITY OF EARLY STAGE IDENTIFICATION OF IMBALANCES IN THE EUROPEAN UNION

    Directory of Open Access Journals (Sweden)

    Marius, Gust

    2013-01-01

    Full Text Available In late 2011, the European Union (EU Council and European Parliament adopted a series of new rules on economic governance, perfecting the process begun in 2010 to strengthen the monitoring and prevention of macroeconomic imbalances, fiscal and competitiveness disparities among EU countries. In the same direction, of strengthening fiscal surveillance under the Stability and Growth Pact, also goes the Treaty on Stability, Coordination and Governance in the Economic and Monetary Union, through the fiscal Compact. Thus, the macroeconomic imbalances procedure provided in the new legislation requires as a first step the realization of a scoreboard consisting of 10 indicators, which, according to promoters, allow an early identification of imbalances, of both short-term, as well as structural, of longer-term. European Commission reports and statistics for EU Member States in 2010 and 2011, indicate that in the post-crisis period there has been a pronounced adjustment of external imbalances, but a number of countries continue to record higher values than indicative levels in the dashboard .

  8. Reverse knowledge and technology transfer: imbalances caused by cognitive barriers in asymmetric relationships

    NARCIS (Netherlands)

    Millar, Carla C.J.M.; Choi, Chong Ju

    2009-01-01

    An imbalance exists in almost any type of knowledge and technology transfer due to the information asymmetry of the relationship. However, this is especially the case for reverse technology and knowledge transfer which is epitomised for us by "transfers from an MNC's subsidiary to its headquarters".

  9. Economic concepts to address future water supply-demand imbalances in Iran, Morocco and Saudi Arabia

    Science.gov (United States)

    Hellegers, Petra; Immerzeel, Walter; Droogers, Peter

    2013-10-01

    In Middle East and North Africa (MENA) countries, renewable groundwater and surface water supply are limited while demand for water is growing rapidly. Climate change is expected to increase water demand even further. The main aim of this paper is to evaluate the water supply-demand imbalances in Iran, Morocco and Saudi Arabia in 2040-2050 under dry, average and wet climate change projections and to show on the basis of the marginal cost and marginal value of water the optimum mix of supply-side and demand-side adjustments to address the imbalance. A hydrological model has been used to estimate the water supply-demand imbalance. Water supply and demand curves have been used to explore for which (marginal value of) water usage the marginal cost of supply-enhancement becomes too expensive. The results indicate that in the future in all cases, except in Iran under the wet climate projection, the quantity of water demanded has to be reduced considerably to address the imbalance, which is indeed what is currently happening already.

  10. Economic concepts to address future water supply-demand imbalances in Iran, Morocco and Saudi Arabia

    NARCIS (Netherlands)

    Hellegers, P.; Immerzeel, W.W.; Droogers, P.

    2013-01-01

    In Middle East and North Africa (MENA) countries, renewable groundwater and surface water supply are limited while demand for water is growing rapidly. Climate change is expected to increase water demand even further. The main aim of this paper is to evaluate the water supply–demand imbalances in Ir

  11. Mechanisms for dominance: Adh heterodimer formation in heterozygotes between ENU or x-ray induced null alleles and normal alleles in drosophila melanogaster

    Energy Technology Data Exchange (ETDEWEB)

    Jiang, J.C.; Lee, W.R.; Chang, S.H.; Silverman, H. (Louisiana State Univ., Baton Rouge (United States))

    1992-01-01

    To study mechanisms for dominance of phenotype, eight ENU- and four x-ray-induced mutations at the alcohol dehydrogenase (Adh) locus were analyzed for partial dominance in their interaction with normal alleles. All ENU and one of the x-ray mutations were single base substitutions; the other three x-ray mutations were 9-21 base deletions. All but one of the 12 mutant alleles were selected for this study because they produced detectable mutant polypeptides, but seven of the 11 producing a peptide could not form dimers with the normal peptide and the enzyme activity of heterozygotes was about half that of normal homozygotes. Four mutations formed dimers with a decreased catalytic efficiency and two of these were near the limit of detectability; these two also inhibited the formation of normal homodimers. The mutant alleles therefore show multiple mechanisms leading to partial enzyme expression in heterozygotes and a wide range of dominance ranging from almost complete recessive to nearly dominant. All amino acid changes in mutant peptides that form dimers are located between amino acids 182 and 194, so this region is not critical for dimerization. It may, however, be an important surface domain for catalyzation. 34 refs., 8 figs., 2 tabs.

  12. Expression of the PlA2 allele of glycoprotein IIIa and its impact on platelet function

    Directory of Open Access Journals (Sweden)

    Christopher N Floyd

    2015-11-01

    Full Text Available Background The platelet fibrinogen receptor represents the final common pathway of platelet activation, and is formed from two glycoprotein (GP subunits (GPIIb/IIIa. Carriage of the mutant PlA2 allele of GPIIIa has been shown to confer an increased risk of cardiovascular events, but published studies have disagreed as to the mechanism for this association. Objectives To assess whether carriage of the PlA2 allele conforms to Mendelian patterns of expression and to identify whether carriage of the mutant allele modulates platelet function. Methods Expression of the PlA2 allele was assessed in both healthy subjects (n = 25 and patients with known coronary artery disease (n = 90 through the development and validation of a liquid chromatography, tandem mass spectrometry (LC-MS/MS assay. Platelet function was assessed in the patient cohort in response to multiple agonists, and these data were analysed in the context of the proteomic data. Results Expression of the wild-type PlA1 allele and mutant PlA2 alleles was readily quantifiable and conformed to Mendelian patterns in both healthy and patient cohorts. Patients who were homozygous for the mutant PlA2 allele had an increased aggregatory response to adenosine diphosphate, collagen, adrenaline, ristocetin, thrombin receptor-activating peptide 6 and U46619, when assessed using agonist-concentration response curves. Conclusions These findings support the hypothesis that carriage of the mutant PlA2 allele mediates an increased risk of cardiovascular events through the modulation of platelet reactivity.

  13. The Met-allele of the BDNF Val66Met polymorphism enhances task switching in elderly.

    Science.gov (United States)

    Gajewski, Patrick D; Hengstler, Jan G; Golka, Klaus; Falkenstein, Michael; Beste, Christian

    2011-12-01

    In this study we examined the relevance of the functional brain-derived neurotrophic factor (BDNF) Val66Met polymorphism as a modulator of task-switching performance in healthy elderly by using behavioral and event-related potential (ERP) measures. Task switching was examined in a cue-based and a memory-based paradigm. Val/Val carriers were generally slower, showed enhanced reaction time variability and higher error rates, particularly during memory-based task switching than the Met-allele individuals. On a neurophysiological level these dissociative effects were reflected by variations in the N2 and P3 ERP components. The task switch-related N2 was increased while the P3 was decreased in Met-allele carriers, while the Val/Val genotype group revealed the opposite pattern of results. In cue-based task-switching no behavioral and ERP differences were seen between the genotypes. These data suggest that superior memory-based task-switching performance in elderly Met-allele carriers may emerge due to more efficient response selection processes. The results implicate that under special circumstances the Met-allele renders cognitive processes more efficient than the Val/Val genotype in healthy elderly, corroborating recent findings in young subjects.

  14. Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.

    Science.gov (United States)

    Eser, O; Eser, B; Cosar, M; Erdogan, M O; Aslan, A; Yıldız, H; Solak, M; Haktanır, A

    2011-01-01

    We investigated a possible association between aggrecan gene polymorphism and lumbar degenerative disc disease in Turkish patients. One hundred 20-30-year-old patients with or without low back pain were selected for the study. Lumbar magnetic resonance imaging was performed on all patients. The patient group had low back pain clinically and degenerative disc disease radiographically. The control group included patients with and without low back pain: all were negative radiographically for degenerative disc disease. Genomic DNA was extracted from all participants. A PCR assay were used to evaluate variable number of tandem repeat polymorphism of aggrecan gene alleles to determine if there was any correlation with degenerative disc disease. Significant associations were found between short repeated alleles of the aggrecan gene and severe disc degeneration. A significant association was also found between short repeated alleles of the aggrecan gene and multilevel disc herniation as well as extrusion and sequestration types of disc herniation. In Turkish population, short repeated alleles of the aggrecan gene are associated with increased disc degeneration and disc herniation. PMID:21948754

  15. Association of the Apolipoprotein E 2 Allele with Concurrent Occurrence of Endometrial Hyperplasia and Endometrial Carcinoma

    Directory of Open Access Journals (Sweden)

    Tatiana I. Ivanova

    2015-01-01

    Full Text Available Genes encoding proteins with antioxidant properties may influence susceptibility to endometrial hyperplasia (EH and endometrial carcinoma (ECa. Patients with EH (n = 89, EH concurrent with ECa (n = 76, ECa (n = 186, and healthy controls (n = 1110 were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys, iron (HFE Cys282Tyr and His63Asp, and catecholamines (COMT Val158Met. Patients and controls were matched by ethnicity (all Caucasians, age, body mass index (BMI, and incidence of hypertension and diabetes. The frequency of the APOE E 2 allele (158Cys was higher in patients with EH + ECa than in controls (P = 0.0012, PBonferroni = 0.018, OR = 2.58, 95% CI 1.49–4.45. The APOE E 4 allele (112Arg was more frequently found in patients with EH than in controls and HFE minor allele G (63Asp had a protective effect in the ECa group, though these results appeared to be nonsignificant after correction for multiple comparisons. The results of the study indicate that E 2 allele might be associated with concurrent occurrence of EH and ECa.

  16. 男性冲动攻击行为的15个短串联重复序列基因位点等位基因频率的病例对照研究%Case-control study of allele frequencies of 15 short tandem repeat loci in males with impulsive violent behavior

    Institute of Scientific and Technical Information of China (English)

    杨春; 巴华杰; 高志勤; 赵汉清; 余海鹰; 过伟

    2013-01-01

    背景:遗传多态性短串联重复序列(short tandem repeats, STRs)分析是用于检测基因型和表型之间关联的公认方法,但它以前没有在冲动攻击行为的遗传学研究中使用。  目的:在有冲动攻击行为史的男性和无冲动攻击行为史的男性对照组之间,比较15个STR基因位点(D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818和FGA)不同多态性的发生率。  方法:应用AmpFlSTR®Identifiler™试剂盒比较407个有冲动性攻击行为的案例和415个对照的15个STR基因位点等位基因的分布。  结果:有冲动攻击行为史的男性以下等位基因的平均频率显著低于对照组:TH01的等位基因10(OR=0.29,95%CI=0.16-0.52, p  结论:据我们所知,本项行为遗传学研究首次清楚表明了特定的遗传标记与非精神病罪犯的冲动暴力行为之间的密切关系。进一步的前瞻性工作将需要确定已辨识出的等位基因是否可以被认为是冲动攻击行为的危险因素以及导致这种关系的基本机制。%Background:Analysis of genetic polymorphisms in short tandem repeats (STRs) is an accepted method for detecting associations between genotype and phenotype but it has not previously been used in the study of the genetics of impulsive violent behavior. Objective:Compare the prevalence of different polymorphisms in 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) between men with a history of impulsive violence and male control subjects without a history of impulsive violence. Methods:The distributions of the alleles of the 15 STR loci were compared between 407 cases with impulsive violent behavior and 415 controls using AmpFlSTR® Identifiler™kits. Results:Compared to controls, the average frequencies of the following alleles were significantly lower in individuals

  17. The population genetics of sporophytic self-incompatibility in Senecio squalidus L. (Asteraceae): avoidance of mating constraints imposed by low S-allele number.

    Science.gov (United States)

    Brennan, Adrian C; Harris, Stephen A; Hiscock, Simon J

    2003-01-01

    Senecio squalidus L. (Asteraceae) has been the subject of several ecological and population genetic studies due to its well-documented history of introduction, establishment and spread throughout Britain in the past 300 years. Our recent studies have focused on identifying and quantifying factors associated with the sporophytic self-incompatibility (SSI) system of S. squalidus that may have contributed to its success as a colonist. These findings are of general biological interest because they provide important insights into the short-term evolutionary dynamics of a plant mating system. The number of S-alleles in populations and their dominance interactions were investigated in eight wild British populations using cross-diallel studies. The numbers of S-alleles in British S. squalidus populations are typically low (average of 5.3 S-alleles) and the entire British population is estimated to possess no more than 7-11 S-alleles. Such low numbers of S-alleles are most probably a consequence of population bottlenecks associated with introduction and colonization. Potential evolutionary impacts on SSI caused by a paucity of S-alleles, such as restricted mate availability, are discussed, and we suggest that increased dominance interactions between S-alleles may be an important short-term means of increasing mate availability when S-allele numbers are low. PMID:12831471

  18. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3

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    Ratnayake Madhushika

    2012-03-01

    Full Text Available Abstract Background A genome-wide association scan with subsequent replication study that involved over 67,000 individuals of European ancestry has produced evidence of association of single nucleotide polymorphism rs2277831 to primary osteoarthritis (OA with a P-value of 2.9 × 10-5. rs2277831, an A/G transition, is located in an intron of MICAL3. This gene is located on chromosome 22q11.21 and the association signal encompasses two additional genes, BCL2L13 and BID. It is becoming increasingly apparent that many common complex traits are mediated by cis-acting regulatory polymorphisms that influence, in a tissue-specific manner, gene expression or transcript stability. Methods We used total and allelic expression analysis to assess whether the OA association to rs2277831 is mediated by an influence on MICAL3, BCL2L13 or BID expression. Using RNA extracted from joint tissues of 60 patients who had undergone elective joint replacement surgery, we assessed whether rs2277831 correlated with allelic expression of either of the three genes by: 1 measuring the expression of each gene by quantitative PCR and then stratifying the data by genotype at rs2277831 and 2 accurately discriminating and quantifying the mRNA synthesised from the alleles of OA patients using allelic-quantitative PCR. Results We found no evidence for a correlation between gene expression and genotype at rs2277831, with P-values of 0.09 for BCL2L13, 0.07 for BID and 0.33 for MICAL3. In the allelic expression analysis we observed several examples of significant (p BCL2L13 (P = 0.004, 2.09 at BID (P = 0.001 and the most extreme case being at MICAL3, with an allelic expression ratio of 5.47 (P = 0.001. However, there was no correlation observed between the pattern of allelic expression and the genotype at rs2277831. Conclusions In the tissues that we have studied, our data do not support our hypothesis that the association between rs2277831 and OA is due to the effect this SNP has on

  19. Two domain-disrupted hda6 alleles have opposite epigenetic effects on transgenes and some endogenous targets

    KAUST Repository

    Zhang, ShouDong

    2015-12-15

    HDA6 is a RPD3-like histone deacetylase. In Arabidopsis, it mediates transgene and some endogenous target transcriptional gene silencing (TGS) via histone deacetylation and DNA methylation. Here, we characterized two hda6 mutant alleles that were recovered as second-site suppressors of the DNA demethylation mutant ros1–1. Although both alleles derepressed 35S::NPTII and RD29A::LUC in the ros1–1 background, they had distinct effects on the expression of these two transgenes. In accordance to expression profiles of two transgenes, the alleles have distinct opposite methylation profiles on two reporter gene promoters. Furthermore, both alleles could interact in vitro and in vivo with the DNA methyltransferase1 with differential interactive strength and patterns. Although these alleles accumulated different levels of repressive/active histone marks, DNA methylation but not histone modifications in the two transgene promoters was found to correlate with the level of derepression of the reporter genes between the two had6 alleles. Our study reveals that mutations in different domains of HDA6 convey different epigenetic status that in turn controls the expression of the transgenes as well as some endogenous loci.

  20. Natural host genetic resistance to lentiviral CNS disease: a neuroprotective MHC class I allele in SIV-infected macaques.

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    Joseph L Mankowski

    Full Text Available Human immunodeficiency virus (HIV infection frequently causes neurologic disease even with anti-retroviral treatment. Although associations between MHC class I alleles and acquired immunodeficiency syndrome (AIDS have been reported, the role MHC class I alleles play in restricting development of HIV-induced organ-specific diseases, including neurologic disease, has not been characterized. This study examined the relationship between expression of the MHC class I allele Mane-A*10 and development of lentiviral-induced central nervous system (CNS disease using a well-characterized simian immunodeficiency (SIV/pigtailed macaque model. The risk of developing CNS disease (SIV encephalitis was 2.5 times higher for animals that did not express the MHC class I allele Mane-A*10 (P = 0.002; RR = 2.5. Animals expressing the Mane-A*10 allele had significantly lower amounts of activated macrophages, SIV RNA, and neuronal dysfunction in the CNS than Mane-A*10 negative animals (P<0.001. Mane-A*10 positive animals with the highest CNS viral burdens contained SIV gag escape mutants at the Mane-A*10-restricted KP9 epitope in the CNS whereas wild type KP9 sequences dominated in the brain of Mane-A*10 negative animals with comparable CNS viral burdens. These concordant findings demonstrate that particular MHC class I alleles play major neuroprotective roles in lentiviral-induced CNS disease.