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Sample records for allelic imbalance studies

  1. Allelic imbalance in hereditary and sporadic prostate cancer.

    NARCIS (Netherlands)

    Verhage, B.; Houwelingen, K.P. van; Ruijter, T.E.G.; Kiemeney, L.A.L.M.; Schalken, J.A.

    2003-01-01

    BACKGROUND: In this study, we evaluate the pattern of allelic imbalance (AI) in both sporadic prostate cancer (SPC) and hereditary prostate cancer (HPC) at loci that frequently show allelic imbalance in sporadic prostate cancer, or are believed to have a putative role in the disease. METHODS: DNA ob

  2. 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.

  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......-nucleotide polymorphisms. Allelic imbalance analysis is subject to technical biases, due to differences in the sequences of the measured alleles. Flexible bioinformatics tools are needed to ease the workflow while retaining as much RNA sequencing information as possible throughout the analysis to detect and address......, within the robust and versatile management class, ASEset....

  4. 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.

  5. 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.

  6. Frequent allelic imbalance but infrequent microsatellite instability in gastric lymphoma

    NARCIS (Netherlands)

    Hoeve, M A; Ferreira Mota, S C; Schuuring, E; de Leeuw, W J; Chott, A; Meijerink, J P; Kluin, P M; van Krieken, J H

    1999-01-01

    Specific defects in DNA repair pathways are reflected by DNA microsatellite instability (MSI) and play an important role in carcinogenesis. Reported frequencies in gastric non-Hodgkin's lymphomas (NHL) vary from 14% to as high as 90%. Another form of genetic instability in tumours is allelic imbalan

  7. Identification of allelic imbalance with a statistical model for subtle genomic mosaicism.

    Directory of Open Access Journals (Sweden)

    Rui Xia

    2014-08-01

    Full Text Available Genetic heterogeneity in a mixed sample of tumor and normal DNA can confound characterization of the tumor genome. Numerous computational methods have been proposed to detect aberrations in DNA samples from tumor and normal tissue mixtures. Most of these require tumor purities to be at least 10-15%. Here, we present a statistical model to capture information, contained in the individual's germline haplotypes, about expected patterns in the B allele frequencies from SNP microarrays while fully modeling their magnitude, the first such model for SNP microarray data. Our model consists of a pair of hidden Markov models--one for the germline and one for the tumor genome--which, conditional on the observed array data and patterns of population haplotype variation, have a dependence structure induced by the relative imbalance of an individual's inherited haplotypes. Together, these hidden Markov models offer a powerful approach for dealing with mixtures of DNA where the main component represents the germline, thus suggesting natural applications for the characterization of primary clones when stromal contamination is extremely high, and for identifying lesions in rare subclones of a tumor when tumor purity is sufficient to characterize the primary lesions. Our joint model for germline haplotypes and acquired DNA aberration is flexible, allowing a large number of chromosomal alterations, including balanced and imbalanced losses and gains, copy-neutral loss-of-heterozygosity (LOH and tetraploidy. We found our model (which we term J-LOH to be superior for localizing rare aberrations in a simulated 3% mixture sample. More generally, our model provides a framework for full integration of the germline and tumor genomes to deal more effectively with missing or uncertain features, and thus extract maximal information from difficult scenarios where existing methods fail.

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

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    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.

  9. 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.

  10. 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.

  11. 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

  12. A new analysis tool for individual-level allele frequency for genomic studies

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    Pan Wen-Harn

    2010-07-01

    Full Text Available Abstract Background Allele frequency is one of the most important population indices and has been broadly applied to genetic/genomic studies. Estimation of allele frequency using genotypes is convenient but may lose data information and be sensitive to genotyping errors. Results This study utilizes a unified intensity-measuring approach to estimating individual-level allele frequencies for 1,104 and 1,270 samples genotyped with the single-nucleotide-polymorphism arrays of the Affymetrix Human Mapping 100K and 500K Sets, respectively. Allele frequencies of all samples are estimated and adjusted by coefficients of preferential amplification/hybridization (CPA, and large ethnicity-specific and cross-ethnicity databases of CPA and allele frequency are established. The results show that using the CPA significantly improves the accuracy of allele frequency estimates; moreover, this paramount factor is insensitive to the time of data acquisition, effect of laboratory site, type of gene chip, and phenotypic status. Based on accurate allele frequency estimates, analytic methods based on individual-level allele frequencies are developed and successfully applied to discover genomic patterns of allele frequencies, detect chromosomal abnormalities, classify sample groups, identify outlier samples, and estimate the purity of tumor samples. The methods are packaged into a new analysis tool, ALOHA (Allele-frequency/Loss-of-heterozygosity/Allele-imbalance. Conclusions This is the first time that these important genetic/genomic applications have been simultaneously conducted by the analyses of individual-level allele frequencies estimated by a unified intensity-measuring approach. We expect that additional practical applications for allele frequency analysis will be found. The developed databases and tools provide useful resources for human genome analysis via high-throughput single-nucleotide-polymorphism arrays. The ALOHA software was written in R and R GUI and

  13. Allelic imbalance analysis using a single-nucleotide polymorphism microarray for the detection of bladder cancer recurrence.

    NARCIS (Netherlands)

    Coenen, M.J.H.; Ploeg, M.; Schijvenaars, M.M.V.A.P.; Cornel, E.B.; Karthaus, H.F.M.; Scheffer, H.; Witjes, J.A.M.; Franke, B.; Kiemeney, L.A.L.M.

    2008-01-01

    PURPOSE: Non-muscle-invasive bladder cancer is a frequently occurring cancer, with an extremely high recurrence risk. Recurrence detection is based on cytology and urethrocystoscopy. A previous study suggested that a single-nucleotide polymorphism (SNP) array may be effective for noninvasive detecti

  14. A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

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    Pique-Regi Roger

    2011-05-01

    Full Text Available Abstract Background Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly defined since it has been only studied systematically in one large-scale study and by using non optimal ad-hoc SNP array data analysis tools, uncovering rather large alterations (> 1 Mb and affecting a high proportion of cells. Here we propose a novel methodology, Mosaic Alteration Detection-MAD, by providing a software tool that is effective for capturing previously described alterations as wells as new variants that are smaller in size and/or affecting a low percentage of cells. Results The developed method identified all previously known mosaic abnormalities reported in SNP array data obtained from controls, bladder cancer and HapMap individuals. In addition MAD tool was able to detect new mosaic variants not reported before that were smaller in size and with lower percentage of cells affected. The performance of the tool was analysed by studying simulated data for different scenarios. Our method showed high sensitivity and specificity for all assessed scenarios. Conclusions The tool presented here has the ability to identify mosaic abnormalities with high sensitivity and specificity. Our results confirm the lack of sensitivity of former methods by identifying new mosaic variants not reported in previously utilised datasets. Our work suggests that the prevalence of mosaic alterations could be higher than initially thought. The use of appropriate SNP array data analysis methods would help in defining the human genome mosaic map.

  15. 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...

  16. Doctrinal Imbalance: A Study of Swedish Army Doctrine

    Science.gov (United States)

    2014-06-13

    LTC Ola Palmqvist and LTC Stefan Eriksson from LWC. These doctrinal v authorities, even though they do not agree with the conclusions of these...a shift from offensive to defensive operations produce the desired strategic goals? The third question is to be examined through computer...definition of doctrine diverges significantly from that used in Sweden. Because this study produced in the US, and the initial audience is American, the

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

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    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.

  18. Reviewing the effort-reward imbalance model: drawing up the balance of 45 empirical studies.

    Science.gov (United States)

    van Vegchel, Natasja; de Jonge, Jan; Bosma, Hans; Schaufeli, Wilmar

    2005-03-01

    The present paper provides a review of 45 studies on the Effort-Reward Imbalance (ERI) Model published from 1986 to 2003 (inclusive). In 1986, the ERI Model was introduced by Siegrist et al. (Biological and Psychological Factors in Cardiovascular Disease, Springer, Berlin, 1986, pp. 104-126; Social Science & Medicine 22 (1986) 247). The central tenet of the ERI Model is that an imbalance between (high) efforts and (low) rewards leads to (sustained) strain reactions. Besides efforts and rewards, overcommitment (i.e., a personality characteristic) is a crucial aspect of the model. Essentially, the ERI Model contains three main assumptions, which could be labeled as (1) the extrinsic ERI hypothesis: high efforts in combination with low rewards increase the risk of poor health, (2) the intrinsic overcommitment hypothesis: a high level of overcommitment may increase the risk of poor health, and (3) the interaction hypothesis: employees reporting an extrinsic ERI and a high level of overcommitment have an even higher risk of poor health. The review showed that the extrinsic ERI hypothesis has gained considerable empirical support. Results for overcommitment remain inconsistent and the moderating effect of overcommitment on the relation between ERI and employee health has been scarcely examined. Based on these review results suggestions for future research are proposed.

  19. PCR bias in amplification of androgen receptor alleles, a trinucleotide repeat marker used in clonality studies.

    Science.gov (United States)

    Mutter, G L; Boynton, K A

    1995-04-25

    Trinucleotide CAG repeats in the X-linked human androgen receptor gene (HUMARA) have proved a useful means of determining X chromosome haplotypes, and when combined with methylation analysis of nearby cytosine residues permits identification of non-random X inactivation in tumors of women. Co-amplification of two alleles in a heterozygote generates PCR products which differ in the number of CAG units, and thus their melting and secondary structure characteristics. We have shown that under optimal conditions amplification efficiency of two HUMARA alleles is near-equivalent, generating PCR products in a ratio proportional to that of the genomic template. In contrast, reduction of template quantity, damage of template by ultraviolet irradiation or addition of monovalent salts (sodium chloride, sodium acetate or ammonium acetate) produces highly variable imbalances of allelic PCR products, with a strong tendency to preferentially amplify lower molecular weight alleles. Variability and biasing was diminished by substitution of 7-deaza-2'-dGTP for dGTP during amplification, an intervention which reduces stability of intramolecular and intermolecular GC base pairing. We conclude that DNA which is scanty, damaged or salt contaminated may display amplification bias of GC-rich PCR targets, potentially confounding accurate interpretation or reproducibility of assays which require co-amplification of alleles.

  20. 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 ...

  1. Assessment and implication of prognostic imbalance in randomized controlled trials with a binary outcome--a simulation study.

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    Rong Chu

    Full Text Available BACKGROUND: Chance imbalance in baseline prognosis of a randomized controlled trial can lead to over or underestimation of treatment effects, particularly in trials with small sample sizes. Our study aimed to (1 evaluate the probability of imbalance in a binary prognostic factor (PF between two treatment arms, (2 investigate the impact of prognostic imbalance on the estimation of a treatment effect, and (3 examine the effect of sample size (n in relation to the first two objectives. METHODS: We simulated data from parallel-group trials evaluating a binary outcome by varying the risk of the outcome, effect of the treatment, power and prevalence of the PF, and n. Logistic regression models with and without adjustment for the PF were compared in terms of bias, standard error, coverage of confidence interval and statistical power. RESULTS: For a PF with a prevalence of 0.5, the probability of a difference in the frequency of the PF≥5% reaches 0.42 with 125/arm. Ignoring a strong PF (relative risk = 5 leads to underestimating the strength of a moderate treatment effect, and the underestimate is independent of n when n is >50/arm. Adjusting for such PF increases statistical power. If the PF is weak (RR = 2, adjustment makes little difference in statistical inference. Conditional on a 5% imbalance of a powerful PF, adjustment reduces the likelihood of large bias. If an absolute measure of imbalance ≥5% is deemed important, including 1000 patients/arm provides sufficient protection against such an imbalance. Two thousand patients/arm may provide an adequate control against large random deviations in treatment effect estimation in the presence of a powerful PF. CONCLUSIONS: The probability of prognostic imbalance in small trials can be substantial. Covariate adjustment improves estimation accuracy and statistical power, and hence should be performed when strong PFs are observed.

  2. Double Imbalance

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    The government has been introducing a string of policies to stabilize the economy and cushion the impact of the global eco-nomic slowdown since October.These policies are generally deemed"timely"and"necessary,"but not a long-term cure for problems in China’s economy.Renowned economist Wu Jinglian says the country must address its"double imbalance"and further reform its economic growth mode.He made his comments at the First Annual Global Management Forum on December 6 in Shanghai.Excerptsf ollow:

  3. 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

  4. 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

  5. Human placental alkaline phosphatase electrophoretic alleles: Quantitative studies

    Science.gov (United States)

    Lucarelli, Paola; Scacchi, Renato; Corbo, Rosa Maria; Benincasa, Alberto; Palmarino, Ricciotti

    1982-01-01

    Human placental alkaline phosphatase (ALP) activity has been determined in specimens obtained from 562 Italian subjects. The mean activities of the three common homozygotes (Pl 2 = 4.70 ± 0.24, Pl 1 = 4.09 ± 0.08, and Pl 3 = 2.15 ± 0.71 μmol of p-nitrophenol produced) were significantly different. The differences among the various allelic forms account for 10% of the total quantitative variation of the human placental alkaline phosphatase. PMID:7072721

  6. Does occupational gender segregation influence the association of effort-reward imbalance with myocardial infarction in the SHEEP study?

    Science.gov (United States)

    Peter, Richard; Hammarström, Anne; Hallqvist, Johan; Siegrist, Johannes; Theorell, Töres

    2006-01-01

    The objective of this study was to investigate whether occupational gender segregation moderates the association between job stress in terms of effort-reward imbalance and the risk of myocardial infarction. This analysis was conducted in 1,381 cases and 1,697 referents of the Swedish SHEEP case control study aged 45-70 years. Information on myocardial infarction and biological coronary risk factors (e.g. hypertension, blood lipids) was achieved from clinical screenings. Information on socio-demographic variables, effort-reward imbalance, behavioral coronary risk factors (e.g., smoking), and additional coronary risk factors (e.g., diabetes, family history of coronary heart disease) was derived from well-tested standardized questionnaires. After adjustment for confounders the strongest association between overcommitment (the intrinsic component of effort-reward imbalance) and risk of belonging to the myocardial infarction group was found among women in male-dominated jobs (odds ratio [OR] = 2.71, 95% CI = 1.13-6.52) as compared to the remaining group (OR = 1.52, 95% CI = 1.01-2.31). Moreover, a significant interaction between pronounced overcommitment and male domination in relation to myocardial infarction was observed among women (OR = 2.44, 95% CI = 1.05-5.67). In men, an association between the ratio of effort and reward (the extrinsic component of the model) and risk of myocardial infarction was found for the majority, that is the group not working in women-dominated jobs (OR = 1.39, 95% CI = 1.04-1.86). Despite methodological limitations, this study gives preliminary evidence of a moderating effect of occupational gender segregation on the association of effort-reward imbalance (i.e., the intrinsic model component overcommitment) with acute myocardial infarction risk among women, but not among men.

  7. Efficiency of physical therapy on postural imbalance after stroke: study protocol for a systematic review and meta-analysis

    Science.gov (United States)

    Hugues, A; Di Marco, J; Janiaud, P; Xue, Y; Pires, J; Khademi, H; Cucherat, M; Bonan, I; Gueyffier, F; Rode, G

    2017-01-01

    Introduction Stroke frequently results in balance disorders, leading to lower levels of activity and a diminution in autonomy. Current physical therapies (PT) aiming to reduce postural imbalance have shown a large variety of effects with low levels of evidence. The objectives are to determine the efficiency of PT in recovering from postural imbalance in patients after a stroke and to assess which PT is more effective. Methods and analysis We will search several databases from inception to October 2015. Only randomised controlled trials assessing PT to recover from poststroke postural imbalance in adults will be considered. Outcome measures will be the Berg Balance Scale (BBS), the Postural Assessment Scale for Stroke (PASS), the ‘weight-bearing asymmetry’ (WBA), the ‘centre of pressure’ (COP) and the ‘limit of stability’ (LOS). WBA, COP and LOS are measured by a (sitting or standing) static evaluation on force plate or another device. Two independent reviewers will screen titles, abstracts and full-text articles, evaluate the risk of bias and will perform data extraction. In addition to the outcomes, measures of independence will be analysed. This study will aim at determining the effects of PT on the function (WBA, COP, LOS), the activity (BBS, PASS) and the independence of patients. Subgroup analyses will be planned according to the location of brain lesion (hemispheric, brainstem or cerebellum), the time since stroke (early, late, chronic), the PT (type, main aim (direct effect or generalisation), overall duration), the type of approaches (top-down or bottom-up) and the methodological quality of studies. Ethics and dissemination No ethical statement will be required. The results will be published in a peer-reviewed journal. This meta-analysis aims at managing the rehabilitation after postural imbalance by PT after a stroke. Trial registration number Prospero CRD42016037966;Pre-results. PMID:28137928

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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

  13. Study on the association of BoLA-DRB3.2 alleles with clinical mastitis in Norwegian Red cows.

    Science.gov (United States)

    Kulberg, S; Heringstad, B; Guttersrud, O A; Olsaker, I

    2007-08-01

    Genotyping of bovine leucocyte antigen DRB3.2 (BoLA-DRB3.2) in a total of 523 Norwegian Red (NR) cows from two groups selected for high protein yield and low clinical mastitis, respectively, identified 27 previously reported BoLA-DRB3.2 alleles across the groups. Significant differences in BoLA-DRB3.2 allele frequencies were found between the selection groups. Alleles *13, *18, *22 and *27 had a significantly higher frequency in cows selected for low clinical mastitis, while alleles *3, *9, *11 and *26 had a higher frequency in cows selected for high protein yield. Associations between BoLA-DRB3.2 alleles and clinical mastitis were analysed based on mastitis data from 741,072 first-lactation NR cows, of which 452 were genotyped. Alleles *22 and *26 were found to be associated with increased clinical mastitis, while alleles *7, *11, *18 and *24 had a favourable effect on mastitis resistance. Contradictory results from different studies investigating associations between BoLA-DRB3.2 alleles and mastitis indicate that future studies should focus on associations of mastitis with BoLA haplotypes rather than with single BoLA genes.

  14. 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

  15. 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.

  16. 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.

  17. Combined Effects of GSTM1 Null Allele and APOL1 Renal Risk Alleles in CKD Progression in the African American Study of Kidney Disease and Hypertension Trial.

    Science.gov (United States)

    Bodonyi-Kovacs, Gabor; Ma, Jennie Z; Chang, Jamison; Lipkowitz, Michael S; Kopp, Jeffrey B; Winkler, Cheryl Ann; Le, Thu H

    2016-10-01

    Apolipoprotein L-1 (APOL1) high-risk alleles and the glutathione-S-transferase-μ1 (GSTM1) null allele have been shown separately to associate with CKD progression in the African American Study of Kidney Disease and Hypertension (AASK) trial participants. Here, we determined combined effects of GSTM1 null and APOL1 high-risk alleles on clinical outcomes in 682 AASK participants who were classified into four groups by GSTM1 null or active genotype and APOL1 high- or low-risk genotype. We assessed survival differences among these groups by log-rank test and Cox regression adjusted for important clinical variables for time to GFR event (change in GFR of 50% or 25-ml/min per 1.73 m(2) decline), incident ESRD, death, or composite outcomes. The groups differed significantly in event-free survival for incident ESRD and composite outcomes (P≤0.001 by log-rank test). Compared with the reference GSTM1 active/APOL1 low-risk group, other groups had these hazard ratios for the composite outcome of incident ESRD and change in GFR: GSTM1 active/APOL1 high-risk hazard ratio, 2.13; 95% confidence interval, 0.76 to 5.90 (P=0.15); GSTM1 null/APOL1 low-risk hazard ratio, 2.05; 95% confidence interval, 1.08 to 3.88 (P=0.03); and GSTM1 null/APOL1 high-risk hazard ratio, 3.0; 95% confidence interval, 1.51 to 5.96 (P=0.002). In conclusion, GSTM1 null and APOL1 high-risk alleles deleteriously affect CKD progression among blacks with hypertension, and subjects with both GSTM1 null and APOL1 high-risk genotypes had highest risk of adverse renal outcomes. Larger cohorts are needed to fully explore interactions of GSTM1 and APOL1 genotypes in other subgroups.

  18. 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.

  19. Dietary lysine imbalance affects muscle proteome in zebrafish (Danio rerio): a comparative 2D-DIGE study.

    Science.gov (United States)

    de Vareilles, Mahaut; Conceição, Luis E C; Gómez-Requeni, Pedro; Kousoulaki, Katerina; Richard, Nadège; Rodrigues, Pedro M; Fladmark, Kari E; Rønnestad, Ivar

    2012-10-01

    Lysine (Lys) is an indispensable amino acid (AA) and generally the first limiting AA in vegetable protein sources in fish feeds. Inadequate dietary Lys availability may limit protein synthesis, accretion and growth of fish. This experiment aimed to further elucidate the role of Lys imbalance on growth by examining the myotomal muscle proteome of juvenile zebrafish (Danio rerio). Quadruplicate groups of 8 fish were fed either a low-Lys [Lys(-), 1.34 g kg(-1)], medium/control (Lys, 2.47 g kg(-1)) or high-Lys [Lys(+), 4.63 g kg(-1)] diet. Fish growth was monitored from 33 to 49 days post-fertilization (dpf) and trunk myotomal muscle proteome of Lys(-) and Lys(+) treatments were screened by 2D-DIGE and MALDI ToF tandem mass spectrometry. Growth rate was negatively affected by diet Lys(-). Out of 527 ± 11 (mean ± S.E.M.) protein spots detected (∼10-150 kDa and 4-7 pI value), 30 were over-expressed and 22 under-expressed in Lys(-) fish (|fold-change| >1.2, p value muscle protein accretion. The Lys deficiency also possibly induced a higher feeding activity, reflected in the over-expression of beta enolase and mitochondrial ATP synthase. Contrarily, in the faster growing fish [Lys(+)], over-expression of apolipoprotein A-I, F-actin capping protein and Pdlim7 point to increased energy storage as fat and enhanced muscle growth, particularly by mosaic hyperplasia. Thus using an exploratory approach, this study pinpoints interesting candidates for further elucidating the role of dietary Lys on growth of juvenile fish.

  20. 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......In Perennial ryegrass breeding, F2's derived from parental crosses are sown in plots and phenotypes and genotypes are obtained as single measurements for the whole F2 family pool. For genotypes this means that quantitative assays must be used to obtain allele frequencies. For this purpose...... individuals. This effect is caused by extreme families (homozygote x homozygote) being less frequent than extreme (homozygote) individuals. We finally consider the effects of using sequencing to obtain allele frequencies, which will cause inaccuracy in the frequency estimate due to obtaining a limited number...

  1. FMR1 alleles in Tasmania: a screening study of the special educational needs population.

    Science.gov (United States)

    Mitchell, R J; Holden, J J A; Zhang, C; Curlis, Y; Slater, H R; Burgess, T; Kirkby, K C; Carmichael, A; Heading, K D; Loesch, D Z

    2005-01-01

    The distribution of fragile X mental retardation-1 (FMR1) allele categories, classified by the number of CGG repeats, in the population of Tasmania was investigated in 1253 males with special educational needs (SEN). The frequencies of these FMR1 categories were compared with those seen in controls as represented by 578 consecutive male births. The initial screening was based on polymerase chain reaction analysis of dried blood spots. Inconclusive results were verified by Southern analysis of a venous blood sample. The frequencies of common FMR1 alleles in both samples, and of grey zone alleles in the controls, were similar to those in other Caucasian populations. Consistent with earlier reports, we found some (although insignificant) increase of grey zone alleles in SEN subjects compared with controls. The frequencies of predisposing flanking haplotypes among grey zone males FMR1 alleles were similar to those seen in other Caucasian SEN samples. Contrary to expectation, given the normal frequency of grey zone alleles, no premutation (PM) or full mutation (FM) allele was detected in either sample, with only 15 fragile X families diagnosed through routine clinical admissions registered in Tasmania up to 2002. An explanation of this discrepancy could be that the C19th founders of Tasmania carried few PM or FM alleles. The eight to ten generations since white settlement of Tasmania has been insufficient time for susceptible grey zone alleles to evolve into the larger expansions.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. Earth's Energy Imbalance

    Science.gov (United States)

    Trenberth, K. E.; Fasullo, J.

    2013-12-01

    'Global warming' from increased greenhouse gases really refers to a global energy imbalance at the top-of-atmosphere (TOA). TOA measurements of radiation from space can track changes over time but lack absolute accuracy. An inventory of energy shows that over 90% of the imbalance is manifested as ocean heat content (OHC). Here we use ORAS4 ocean reanalysis data and other OHC estimates to compare the OHC rates of change with model-based estimates of TOA energy imbalance (from CCSM4), and with TOA satellite measurements for the year 2000 onwards. Most of the ocean-only OHC analyses extend to only 700 m depth, have large discrepancies among the rates of change of OHC, and do not resolve interannual variability adequately to capture ENSO and volcanic eruption effects. For the first time we show that ORAS4 OHC quantitatively agrees with the radiative forcing estimates of impacts of the 3 major volcanic eruptions since 1960 (Mt. Agung 1963, El Chichón 1982, and Mt. Pinatubo 1991). The natural variability of the energy imbalance is substantial from month-to-month associated with cloud and weather variations, and interannually mainly associated with ENSO, while the sun affects 15% of the climate change signal on decadal timescales. All estimates (OHC and TOA) show that over the past decade the energy imbalance ranges between about 0.5 and 1 W m-2. By using the full-depth ocean, there is a better overall accounting for energy, but discrepancies remain at interannual timescales between OHC and TOA radiation measurements, notably in 2008-09.

  7. Pharmacogenetic relevance of the CYP2C9*3 allele in a tenoxicam bioequivalence study performed on Spaniards.

    Science.gov (United States)

    Peiró, A M; Novalbos, J; Zapater, P; Moreu, R; López-Rodríguez, R; Rodríguez, V; Abad-Santos, F; Horga, J F

    2009-01-01

    We performed a study to quantify CYP2C9 and CYP2C8 alleles influence on the variability observed in tenoxicam pharmacokinetic (PK) and implication in a bioequivalence study design performed on Spaniards. Eighteen healthy volunteers were included in an open, randomized, crossover, phase I bioequivalence study. Significant increases were found in CYP2C9*3 alleles vs. *1 and *2 in AUC(0-infinity) (median (min-max)): 256 (230-516) vs. 150 (100-268) and 169 (124-197) microg h/mL (p<0.01) and half-life time (t1/2) 102 (79-36) vs. 56 (45-94) and 64 (60-80)h (p<0.01). Non-significant differences were observed in C(max) 1.9 (1.8-2.9) vs. 2.4 (1.7-3.4), 2.5 (1.6-2.9) microg/mL or in according to CYP2C8 alleles presence. CYP2C9*3 allele is associated to a longer elimination time of tenoxicam. PK parameters calculated in bioequivalence studies (AUC(0-infinity), t1/2) may be influenced by the presence of CYP2C9*3 allele resulting in a high variability. Thus, bioequivalence studies of tenoxicam formulations should be designed considering genotype profile.

  8. 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.

  9. 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.

  10. Efficient CRISPR-rAAV engineering of endogenous genes to study protein function by allele-specific RNAi.

    Science.gov (United States)

    Kaulich, Manuel; Lee, Yeon J; Lönn, Peter; Springer, Aaron D; Meade, Bryan R; Dowdy, Steven F

    2015-04-20

    Gene knockout strategies, RNAi and rescue experiments are all employed to study mammalian gene function. However, the disadvantages of these approaches include: loss of function adaptation, reduced viability and gene overexpression that rarely matches endogenous levels. Here, we developed an endogenous gene knockdown/rescue strategy that combines RNAi selectivity with a highly efficient CRISPR directed recombinant Adeno-Associated Virus (rAAV) mediated gene targeting approach to introduce allele-specific mutations plus an allele-selective siRNA Sensitive (siSN) site that allows for studying gene mutations while maintaining endogenous expression and regulation of the gene of interest. CRISPR/Cas9 plus rAAV targeted gene-replacement and introduction of allele-specific RNAi sensitivity mutations in the CDK2 and CDK1 genes resulted in a >85% site-specific recombination of Neo-resistant clones versus ∼8% for rAAV alone. RNAi knockdown of wild type (WT) Cdk2 with siWT in heterozygotic knockin cells resulted in the mutant Cdk2 phenotype cell cycle arrest, whereas allele specific knockdown of mutant CDK2 with siSN resulted in a wild type phenotype. Together, these observations demonstrate the ability of CRISPR plus rAAV to efficiently recombine a genomic locus and tag it with a selective siRNA sequence that allows for allele-selective phenotypic assays of the gene of interest while it remains expressed and regulated under endogenous control mechanisms.

  11. 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

  12. 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.

  13. 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...

  14. A retrospective study to reveal factors associated with postoperative shoulder imbalance in patients with adolescent idiopathic scoliosis with double thoracic curve.

    Science.gov (United States)

    Lee, Choon Sung; Hwang, Chang Ju; Lim, Eic Ju; Lee, Dong-Ho; Cho, Jae Hwan

    2016-12-01

    OBJECTIVE Postoperative shoulder imbalance (PSI) is a critical consideration after corrective surgery for a double thoracic curve (Lenke Type 2); however, the radiographic factors related to PSI remain unclear. The purpose of this study was to identify the radiographic factors related to PSI after corrective surgery for adolescent idiopathic scoliosis (AIS) in patients with a double thoracic curve. METHODS This study included 80 patients with Lenke Type 2 AIS who underwent corrective surgery. Patients were grouped according to the presence [PSI(+)] or absence [PSI(-)] of shoulder imbalance at the final follow-up examination (differences of 20, 15, and 10 mm were used). Various radiographic parameters, including the Cobb angle of the proximal and middle thoracic curves (PTC and MTC), radiographic shoulder height (RSH), clavicle angle, T-1 tilt, trunk shift, and proximal and distal wedge angles (PWA and DWA), were assessed before and after surgery and compared between groups. RESULTS Overall, postoperative RSH decreased with time in the PSI(-) group but not in the PSI(+) group. Statistical analyses revealed that the preoperative Risser grade (p = 0.048), postoperative PWA (p = 0.028), and postoperative PTC/MTC ratio (p = 0.011) correlated with PSI. Presence of the adding-on phenomenon was also correlated with PSI, although this result was not statistically significant (p = 0.089). CONCLUSIONS Postoperative shoulder imbalance is common after corrective surgery for Lenke Type 2 AIS and correlates with a higher Risser grade, a larger postoperative PWA, and a higher postoperative PTC/MTC ratio. Presence of the distal adding-on phenomenon is associated with an increased PSI trend, although this result was not statistically significant. However, preoperative factors other than the Risser grade that affect the development of PSI were not identified by the study. Additional studies are required to reveal the risk factors for the development of PSI.

  15. 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.

  16. Association study of human VN1R1 pheromone receptor gene alleles and gender.

    Science.gov (United States)

    Mitropoulos, Constantinos; Papachatzopoulou, Adamantia; Menounos, Panagiotis G; Kolonelou, Christina; Pappa, Magda; Bertolis, George; Gerou, Spiros; Patrinos, George P

    2007-01-01

    Pheromones are water-soluble chemicals that elicit neuroendocrine and physiological changes, while they also provide information about gender within individuals of the same species. VN1R1 is the only functional pheromone receptor in humans. We have undertaken a large mutation screening approach in 425 adult individuals from the Hellenic population to investigate whether the allelic differences, namely alleles 1a and 1b present in the human VN1R1 gene, are gender specific. Here we show that both VN1R1 1a and 1b alleles are found in chromosomes of both male and female subjects at frequency of 26.35% and 73.65%, respectively. Given the fact that those allelic differences potentially cause minor changes in the protein conformation and its transmembrane domains, as simulated by the TMHMM software, our data suggest that the allelic differences in the human VN1R1 gene are unlikely to be associated with gender and hence to contribute to distinct gender-specific behavior.

  17. 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.

  18. 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.

  19. 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

  20. 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.

  1. 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.

  2. 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

  3. PCR bias in amplification of androgen receptor alleles, a trinucleotide repeat marker used in clonality studies.

    OpenAIRE

    Mutter, G L; Boynton, K A

    1995-01-01

    Trinucleotide CAG repeats in the X-linked human androgen receptor gene (HUMARA) have proved a useful means of determining X chromosome haplotypes, and when combined with methylation analysis of nearby cytosine residues permits identification of non-random X inactivation in tumors of women. Co-amplification of two alleles in a heterozygote generates PCR products which differ in the number of CAG units, and thus their melting and secondary structure characteristics. We have shown that under opt...

  4. Dijet imbalance in hadronic collisions

    NARCIS (Netherlands)

    Boer, Daniel; Mulders, Piet J.; 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 init

  5. 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

  6. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.

    Science.gov (United States)

    Clark, Lorraine N; Nicolai, Angelique; Afridi, Shehla; Harris, Juliette; Mejia-Santana, Helen; Strug, Lisa; Cote, Lucien J; Louis, Elan D; Andrews, Howard; Waters, Cheryl; Ford, Blair; Frucht, Steven; Fahn, Stanley; Mayeux, Richard; Ottman, Ruth; Marder, K

    2005-01-01

    Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (chi(2) = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.

  7. Two HLA DRB 1 alleles confer independent genetic susceptibility to Graves disease: relevance of cross-population studies.

    Science.gov (United States)

    Marga, M; Denisova, A; Sochnev, A; Pirags, V; Farid, N R

    2001-08-01

    Recent studies of Graves disease (GD) employing genome scanning techniques excluded the major histocompatibility complex as a contributor to disease liability. These findings contradict earlier population association studies. Our own earlier studies have also emphasized that genetic variation in human populations may give novel clues to disease liability and manifestations. To this end, we studied HLA class II alleles in 47 Latvian GD patients and 111 matched healthy controls. As expected, we found that DRB1*03 and DQA1*0501 (OR = 3.6, P = 0.029 and OR 2.35, P = 0.0373, respectively) were associated with GD. Unforeseen, DRB1*04 was found to be significantly increased in the patients compared to controls (OR 3.267, corrected P = 0.0319). The two DRB1 alleles conferred two non-overlapping and independent susceptibilities to GD, in that only three patients were positive for both alleles, and the removal of each allele in turn resulted in only the other DRB1 allele showing significant association with the disease. There was no heterogeneity between the two patient groups (DRB1*03 positive and DRB1*04 positive) in clinical characteristics or disease manifestations. The phenotype DRB1*03 and/or DRB1*04 was found in 34/47 patients compared to 27/111 controls yielding an OR of 7.395 (P corrected = 0.000019). We examined the structural basis of DRB1 susceptibility to GD in light of this and previous studies, showing that DRB1*03, 04, and 08 were positively associated with the disease, whereas DRB1*07 was negatively associated. Differences in protein sequences were noted at residues 54, 57, 59, and 66; positions 54, 57, and 66 are on the same face of the alpha helix. The canonical arginine 54 is replaced by glutamine in DRB1*07. At position 66, asparagine in DRB1*03 and tyrosine in DRB1*04 are replaced by phenylalanine in DRB1*07. Residue 59, likely involved in pocket formation in the antigen binding groove, is modified by replacement of tyrosine in DRB1*03, 08, and 04 and

  8. Chiral imbalance in QCD

    Directory of Open Access Journals (Sweden)

    Andrianov Alexander

    2017-01-01

    Full Text Available The chiral imbalance (ChI is given by a difference between the numbers of RH and LH quarks which may occur in the fireball after heavy ion collision. To characterize it adiabatically a quark chiral (axial chemical potential must be introduced taking into account emergence of a ChI in such a phase. In this report the phenomenology of formation of Local spatial Parity Breaking (LPB in the hot and dense baryon matter is discussed and its simulation within a number of QCD-inspired models is outlined. The appearance of new states in the spectra of scalar, pseudoscalar and vector particles in such a matter is elucidated. In particular, from the effective vector meson theory in the presence of Chern-Simons interaction it is demonstrated that the spectrum of massive vector mesons splits into three polarization components with different effective masses. The asymmetry in production of longitudinally and transversely polarized states of ρ and ω mesons for various values of the dilepton invariant mass can serve as a characteristic indication of the LPB in PHENIX, STAR and ALICE experiments.

  9. On the chiral imbalance and Weibel instabilities

    Science.gov (United States)

    Kumar, Avdhesh; Bhatt, Jitesh R.; Kaw, P. K.

    2016-06-01

    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 ξ and the angle (θn) between the propagation vector and the anisotropy direction. It has maximum growth rate at θn = 0 while θn = π / 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 θn = 0, only for a very small values of the anisotropic parameter ξ ∼ξc, growth rates of the both instabilities are comparable. For the cases ξc Weibel modes dominate over the chiral-imbalance instability if μ5 / T ≤ 1. However, when μ5 / T ≥ 1, it is possible to have dominance of the chiral-imbalance modes at certain values of θn for an arbitrary ξ.

  10. 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.

  11. Allele coding in genomic evaluation

    Directory of Open Access Journals (Sweden)

    Christensen Ole F

    2011-06-01

    Full Text Available Abstract Background Genomic data are used in animal breeding to assist genetic evaluation. Several models to estimate genomic breeding values have been studied. In general, two approaches have been used. One approach estimates the marker effects first and then, genomic breeding values are obtained by summing marker 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 this centered allele coding. This study considered effects of different allele coding methods on inference. Both marker-based and equivalent models were considered, and restricted maximum likelihood and Bayesian methods were used in inference. Results Theoretical derivations showed that parameter estimates and estimated marker effects in marker-based models are the same irrespective of the allele coding, provided that the model has a fixed general mean. For the equivalent models, the same results hold, even though different allele coding methods lead to different genomic relationship matrices. Calculated genomic breeding values are independent of allele coding when the estimate of the general mean is included into the values. Reliabilities of estimated genomic breeding values calculated using elements of the inverse of the coefficient matrix depend on the allele coding because different allele coding methods imply different models. Finally, allele coding affects the mixing of Markov chain Monte Carlo algorithms, with the centered coding being

  12. Laterality and imbalance of muscle stiffness relate to personality.

    Science.gov (United States)

    Nakaya, Naoki; Kumano, Hiroaki; Minoda, Keiji; Kanazawa, Motoyori; Fukudo, Shin

    2004-01-01

    The authors' purpose in this study was to test the hypothesis that laterality and imbalance of muscle stiffness relate to personality. The authors selected 23 healthy volunteers and divided them into two groups based on the predominance of muscle stiffness on the left or right side. Imbalance of muscle stiffness was calculated as the absolute value of the difference of muscle stiffness between the right and left sides. The authors evaluated personality with the Japanese version of the Eysenck Personality Questionnaire. Subjects with left predominant muscle stiffness of the rectal abdominis had significantly higher neuroticism score than those with right predominant muscle stiffness. Subjects with more imbalance of muscle stiffness in the latissimus dorsi and in the trapezius had significantly higher neuroticism and psychoticism scores than those with less imbalance. The findings suggest that laterality and imbalance of muscle stiffness relate to personality.

  13. HLA-DRB1 Class II antigen level alleles are associated with persistent HPV infection in Mexican women; a pilot study

    OpenAIRE

    2013-01-01

    Background Persistent infection with high-risk human papillomavirus (HPV) is a major risk factor for malignant lesions and cervical cancer. A widely studied element in the search for genetic factors influencing risk HPV infection diseases is allelic variation of the human leukocyte antigen (HLA) locus. The study was designed to search for HLA susceptibility alleles contributing to the persistence of HPV infection in Mexican women. Methods A total of 172 subjects were divided into three groups...

  14. Horizontal fiscal imbalance in Germany

    Directory of Open Access Journals (Sweden)

    Paweł Kowalik

    2015-04-01

    Full Text Available Regional inequalities are currently a challenge for the majority of the countries, in particular the large ones. The problem of public income redistribution emerges due to possible differentiation of the economic development level of territorial units. The most often considered problem is the vertical distribution. The horizontal division of income is far less frequently considered. Horizontal fiscal imbalance or regional tax inequalities seem to be graver than the vertical imbalance, particularly in developing countries. The public finance system, in particular in federations, is often very complex. Public finance of federations and federated states are not often based on the same assumptions. This leads to differences among regions, both vertical and horizontal. The use of the presented measures helps identify those differences and permits developing mechanisms equalising those inequalities. It should be remembered that those measures may have certain drawbacks, and they mainly focus on certain specific values of income redistribution. Thereby several measures should be applied in measurements and the obtained results should be compared. There are no up-to-date measurements and comparisons of horizontal fiscal imbalance among countries.. The aim of this paper is to measure horizontal fiscal imbalance in Germany, especially after reunification, which represents one of two models of federalism. At the beginning it shows the static and dynamic measurements presented in the literature that can be used to measure the horizontal fiscal imbalance. And then it is followed by the results of calculations for Germany in the period 1970-2013. As expected, horizontal imbalance was much lower before than after the reunification of Germany. After the reunification there were large disparities between "old" and "new" länder. This imbalance is gradually reduced. In comparison with the results obtained for the USA [Kowalik 2014, pp. 144-148] it can be said

  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. 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...... 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.......82, 95% CI=1.46-2.28). In the prospective analysis, a 1 S.D. increase of the ERI ratio at baseline predicted the onset of sleep disturbances among men (OR=1.39, 95% CI=1.03-1.87) but not among women (OR=0.97, 95% CI=0.76-1.24). CONCLUSION: Among men, ERI is a risk factor for the development of sleep...

  17. A note on the use of the generalized odds ratio in meta-analysis of association studies involving bi- and tri-allelic polymorphisms

    Directory of Open Access Journals (Sweden)

    Mingroni-Netto Regina C

    2011-06-01

    Full Text Available Abstract Background The generalized odds ratio (GOR was recently suggested as a genetic model-free measure for association studies. However, its properties were not extensively investigated. We used Monte Carlo simulations to investigate type-I error rates, power and bias in both effect size and between-study variance estimates of meta-analyses using the GOR as a summary effect, and compared these results to those obtained by usual approaches of model specification. We further applied the GOR in a real meta-analysis of three genome-wide association studies in Alzheimer's disease. Findings For bi-allelic polymorphisms, the GOR performs virtually identical to a standard multiplicative model of analysis (e.g. per-allele odds ratio for variants acting multiplicatively, but augments slightly the power to detect variants with a dominant mode of action, while reducing the probability to detect recessive variants. Although there were differences among the GOR and usual approaches in terms of bias and type-I error rates, both simulation- and real data-based results provided little indication that these differences will be substantial in practice for meta-analyses involving bi-allelic polymorphisms. However, the use of the GOR may be slightly more powerful for the synthesis of data from tri-allelic variants, particularly when susceptibility alleles are less common in the populations (≤10%. This gain in power may depend on knowledge of the direction of the effects. Conclusions For the synthesis of data from bi-allelic variants, the GOR may be regarded as a multiplicative-like model of analysis. The use of the GOR may be slightly more powerful in the tri-allelic case, particularly when susceptibility alleles are less common in the populations.

  18. Association of Obesity with Hormonal Imbalance in Infertility: A Cross-Sectional Study in North Indian Women

    OpenAIRE

    Seth, Bhavna; Arora, Sarika; Singh, Ritu

    2013-01-01

    Hormones play an important role in the development and regulation of reproductive function and the menstrual cycle of women. Extremes of body weight tend to affect the homeostasis of the hypothalamo–pituitary–gonadal axis. This cross-sectional study was carried out in 113 women (57 with primary infertility and 56 with secondary infertility) in the age group 20–35 years, presenting for hormonal evaluation of infertility in a tertiary care hospital. After preliminary clinical evaluation, anthro...

  19. Inverse imbalance reconstruction in rotordynamics

    Energy Technology Data Exchange (ETDEWEB)

    Ramlau, R. [Austrian Academy of Sciences, Linz (Austria). Johann Radon Inst. for Computational and Applied Mathematics; Dicken, V. [MeVis GmbH, Bremen (Germany); Maass, P. [Bremen Univ. (Germany). Zentrum fuer Technomathematik; Streller, C. [Rolls-Royce Germany GmbH, Dahlewitz (Germany); Rienaecker, A. [MTU Aero Engines GmbH, Muenchen (Germany)

    2006-05-15

    The goal of this work is to establish and compare algorithms for inverse imbalance reconstruction in aircraft turbines. Such algorithms are based on a validated whole engine model of a turbo engine under consideration. Base on the model, the impact of an imbalance distribution on the vibration behaviour of the turbine can be described as a matrix-vector multiplication Af = g, where f is the imbalance distribution and g the vibration response. It turns out that the matrix A is very ill-conditioned. As the measured data is highly affected with noise, we have to use regularization methods in order to stabilize the inversion. Our main interest was in the use of nonlinear regularization methods, in particular nonlinear filtered singular value decomposition and conjugate gradient regularization. (orig.)

  20. Association of obesity with hormonal imbalance in infertility: a cross-sectional study in north Indian women.

    Science.gov (United States)

    Seth, Bhavna; Arora, Sarika; Singh, Ritu

    2013-10-01

    Hormones play an important role in the development and regulation of reproductive function and the menstrual cycle of women. Extremes of body weight tend to affect the homeostasis of the hypothalamo-pituitary-gonadal axis. This cross-sectional study was carried out in 113 women (57 with primary infertility and 56 with secondary infertility) in the age group 20-35 years, presenting for hormonal evaluation of infertility in a tertiary care hospital. After preliminary clinical evaluation, anthropometric indices (height, weight, BMI, waist circumference and waist hip ratio) were measured in all subjects. Fasting blood sample drawn on second/third day of menstrual cycle was analysed for serum luteinizing hormone, follicle stimulating hormone (FSH), prolactin and thyroid stimulating hormone (TSH). Serum FSH levels showed a significant positive correlation with indicators of central obesity (waist circumference and waist hip ratio in both the study groups). In primary infertility, significant positive correlation was also observed between serum FSH levels and other markers of obesity like body weight, hip circumference and BMI. In secondary infertility, serum prolactin and serum TSH levels demonstrated a significant positive correlation with body weight and BMI. Obesity is associated with hormonal derangements which are responsible for infertility. In overweight women with infertility, weight loss should be considered as a first line treatment.

  1. 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.

  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

    Directory of Open Access Journals (Sweden)

    Barberá Víctor-Manuel

    2009-06-01

    Full Text Available Abstract Background 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. Methods 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. Results 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

  5. Matrix metalloproteinase imbalance in muscle disuse atrophy.

    Science.gov (United States)

    Giannelli, G; De Marzo, A; Marinosci, F; Antonaci, S

    2005-01-01

    Muscle atrophy commonly occurs as a consequence of prolonged muscle inactivity, as observed after cast immobilization, bed rest or space flights. The molecular mechanisms responsible for muscle atrophy are still unknown, but a role has been proposed for altered permeability of the sarcolemma and of the surrounding connective tissue. Matrix metallo-proteinases (MMPs) are a family of enzymes with proteolytic activity toward a number of extracellular matrix (ECM) components; they are inhibited by tissue inhibitors of MMPs (TIMPs). In a rat tail-suspension experimental model, we show that after fourteen days of non-weight bearing there is increased expression of MMP-2 in the atrophic soleus and gastrocnemius and decreased expression of TIMP-2. In the same experimental model the expression of Collagen I and Collagen IV, two main ECM components present in the muscles, was reduced and unevenly distributed in unloaded animals. The difference was more evident in the soleus than in the gastrocnemius muscle. This suggests that muscle disuse induces a proteolytic imbalance, which could be responsible for the breakdown of basal lamina structures such as Collagen I and Collagen IV, and that this leads to an altered permeability with consequent atrophy. In conclusion, an MMP-2/TIMP-2 imbalance could have a role in the mechanism underlying muscle disuse atrophy; more studies are needed to expand our molecular knowledge on this issue and to explore the possibility of targeting the proteolytic imbalance with MMP inhibitors.

  6. 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...

  7. Modeling Induction Motor Imbalances

    DEFF Research Database (Denmark)

    Armah, Kabenla; Jouffroy, Jerome; Duggen, Lars

    2016-01-01

    This paper gives a study into the development of a generalized model for a three-phase induction motor that offers flexibility of simulating balanced and unbalanced parameter scenarios. By analyzing the interaction of forces within the motor, we achieve our main objective of deriving the system...

  8. 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.

  9. Early Proximal Junctional Failure in Patients with Preoperative Sagittal Imbalance

    OpenAIRE

    2013-01-01

    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.1 2 3 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 outco...

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. Distribution and effects of polymorphic RANTES gene alleles in HIV/HCV coinfection - A prospective cross-sectional study

    Institute of Scientific and Technical Information of China (English)

    Golo Ahlenstiel; Tilman Sauerbruch; Ulrich Spengler; Rainer P Woitas; Agathe Iwan; Jacob Nattermann; Karin Bueren; Jürgen K Rockstroh; Hans H Brackmann; Bernd Kupfer; Oifert Landt; Amnon Peled

    2005-01-01

    AIM: Chemokines and their receptors are crucial for immune responses in HCV and HIV infection. RANTES gene polymorphisms lead to altered gene expression and influence the natural course of HIV infection. Therefore,these mutations may also affect the course of HIV/HCV coinfection.METHODS: We determined allele frequencies of RANTES-403 (G→A), RANTES-28 (C→G) and RANTESIN1.1 (T→C) polymorphisms using real-time PCR and hybridization probes in patients with HIV (n = 85), HCV (n= 112), HIV/HCV coinfection (n = 121), and 109 healthy controls. Furthermore, HIV and HCV loads as well as CD4+ and CD8+ cell counts were compared between different RANTES genotypes.RESULTS: Frequencies of RANTES-403 A, RANTES-28 G and RANTES-IN1.1 C alleles were higher in HIV infected patients than in healthy controls (-403: 28.2% vs 15.1%,P = 0.002; -28: 5.4% vs 2.8%, not significant; IN1.1:19.0% vs 11.0%, P = 0.038). In HIV/HCV coinfected patients, these RANTES alleles were less frequent than in patients with HIV infection alone (15.4% P = 0.002;1.7%; P = 0.048; 12.0%; not significant). Frequencies of these alleles were not significantly different between HIV/HCV positive patients, HCV positive patients and healthy controls.CONCLUSION: All three RANTES polymorphisms showed increased frequencies of the variant allele exclusively in patients with HIV monoinfection. The finding that the frequencies of these alleles remained unaltered in HIV/HCV coinfected patients suggests that HCV coinfection interferes with selection processes associated with these alleles in HIV infection.

  15. Arginine vasopressin 1a receptor RS3 promoter microsatellites in schizophrenia: a study of the effect of the "risk" allele on clinical symptoms and facial affect recognition.

    Science.gov (United States)

    Golimbet, Vera; Alfimova, Margarita; Abramova, Lilia; Kaleda, Vasily; Gritsenko, Inga

    2015-02-28

    We studied AVPR1A RS3 polymorphism in schizophrenic patients and controls. AVPR1A RS3 was not associated with schizophrenia. The allele 327bp implicated in autism and social behavior was associated with negative symptoms and tended to be linked to patient facial affect recognition suggesting its impact on schizophrenia social phenotypes.

  16. 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.

  17. CollapsABEL: An R library for detecting compound heterozygote alleles in genome-wide association studies

    NARCIS (Netherlands)

    K. Zhong (Kaiyin); L.C. Karssen (Lennart); M.H. Kayser (Manfred); F. Liu (Fan)

    2016-01-01

    textabstractBackground: Compound Heterozygosity (CH) in classical genetics is the presence of two different recessive mutations at a particular gene locus. A relaxed form of CH alleles may account for an essential proportion of the missing heritability, i.e. heritability of phenotypes so far not acc

  18. High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature.

    Science.gov (United States)

    Sipeky, Csilla; Weber, Agnes; Szabo, Melinda; Melegh, Bela I; Janicsek, Ingrid; Tarlos, Greta; Szabo, Istvan; Sumegi, Katalin; Melegh, Bela

    2013-08-01

    The purpose of our study was to characterise the CYP2C19*2 and CYP2C19*3 alleles in healthy Roma and Hungarian populations. DNA of 500 Roma and 370 Hungarian subjects were genotyped for CYP2C19*2 (G681A, rs4244285) and CYP2C19*3 (G636A, rs4986893) by PCR-RFLP assay and direct sequencing. Significant differences were found comparing the Roma and Hungarian populations in CYP2C19 681 GG (63.6 vs. 75.9%), GA (31.8 vs. 23.0%), AA (4.6 vs. 1.1%), GA+AA (36.4 vs. 24.1%) and A allele frequencies (0.205 vs. 0.125) (pRoma and Hungarian samples in CYP2C19*1 (79.5 vs. 87.4%) and CYP2C19*2 (20.5 vs. 12.6%) alleles, respectively (pRoma than in Hungarians, respectively. Genotype distribution of the Roma population was similar to those of the population of North India, however, a major difference was found in the frequency of the CYP2C19*2 allele, which is likely a result of admixture with European lineages. In conclusion, the frequencies of the CYP2C19 alleles, genotypes and corresponding extensive, intermediate and poor metabolizer phenotypes studied here in the Hungarian population are similar to those of other European Caucasian populations, but display clear differences when compared to the Roma population.

  19. Electrolyte Imbalance in Patients with Sheehan's Syndrome

    Directory of Open Access Journals (Sweden)

    Chur Hoan Lim

    2015-12-01

    Full Text Available BackgroundWe investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome.MethodsIn a retrospective study, we investigated 78 patients with Sheehan's syndrome. We also included 95 normal control subjects who underwent a combined anterior pituitary hormone stimulation test and showed normal hormonal responses.ResultsIn patients with Sheehan's syndrome, the serum levels of sodium, potassium, ionized calcium, magnesium, and inorganic phosphate were significantly lower than those in control subjects. The prevalence of hyponatremia, hypokalemia, hypocalcemia, hypomagnesemia, and hypophosphatemia in patients with Sheehan's syndrome was 59.0% (n=46, 26.9% (n=21, 35.9% (n=28, 47.4% (n=37, and 23.1% (n=18, respectively. Levels of sodium and ionized calcium in serum were positively correlated with levels of all anterior pituitary hormones (all P<0.05. Levels of potassium in serum were positively correlated with adrenocorticotrophic hormone (ACTH and growth hormone (GH levels (all P<0.05. Levels of inorganic phosphate in serum were positively correlated with levels of thyroid-stimulating hormone, prolactin, and GH (all P<0.05, and levels of magnesium in serum were positively correlated with delta ACTH (P<0.01.ConclusionElectrolyte imbalance was common in patients with Sheehan's syndrome. Furthermore, the degree of anterior pituitary hormone deficiency relates to the degree of electrolyte disturbance in patients with this disease.

  20. Effects of specific muscle imbalance improvement training on the balance ability in elite fencers

    OpenAIRE

    Kim, Taewhan; Kil, Sekee; Chung, Jinwook; Moon, Jeheon; Oh, Eunyoung

    2015-01-01

    [Purpose] The lunge Motion that occurs frequently in fencing training and matches results in imbalance of the upper and lower limbs muscles. This research focuses on the improvement of the imbalance that occurs in the national team fencers of the Republic of Korea through specific muscle imbalance improvement training. [Subjects] The subjects of this research were limited to right-handed male fencers. Nine male, right-handed national fencing athletes were selected for this study (4 epee, 5 sa...

  1. 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

  2. Effort-reward imbalance and burnout among nurses.

    Science.gov (United States)

    Bakker, A B; Killmer, C H; Siegrist, J; Schaufeli, W B

    2000-04-01

    This study among a sample of 204 German nurses tested the hypothesis that an imbalance of high extrinsic efforts spent (i.e. job demands) and low extrinsic rewards obtained (e.g. poor promotion prospects) are associated with the burnout syndrome: the depletion of nurses' emotional resources. The results of a series of analyses of variances confirmed this hypothesis, by showing that those nurses who experienced an effort-reward imbalance (ERI) reported higher levels on two of the three core dimensions of burnout (i.e. emotional exhaustion and depersonalization) than those who did not experience such an imbalance. Moreover - as additionally hypothesized - significant interaction effects indicated that burnout (i.e. emotional exhaustion and reduced personal accomplishment) was particularly prevalent among those nurses who experienced ERI and put relatively high intrinsic effort into their jobs, as reflected by their strong tendency to be personally in control over job conditions.

  3. Concerns on Monotonic Imbalance Bounding Matching Methods

    OpenAIRE

    Yatracos, Yannis G.

    2013-01-01

    Concerns are expressed for the Monotonic Imbalance Bounding (MIB) property (Iacus et al. 2011) and for MIB matching because i) the definition of the MIB property leads to inconsistencies and the nature of the imbalance measure is not clearly defined, ii) MIB property does not generalize Equal Percent Bias Reducing (EPBR) property, iii) MIB matching does not provide statistical information available with EPBR matching.

  4. Drivers of imbalance cost of wind power

    DEFF Research Database (Denmark)

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

    2010-01-01

    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...

  5. 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

  6. Gender Imbalance and Terrorism in Developing Countries.

    Science.gov (United States)

    Younas, Javed; Sandler, Todd

    2017-03-01

    This article investigates whether gender imbalance may be conducive to domestic terrorism in developing countries. A female-dominated society may not provide sufficient administration, law, or order to limit domestic terrorism, especially since societies in developing countries primarily turn to males for administration, policing, and paramilitary forces. Other economic considerations support female imbalance resulting in grievance-generated terrorism. Because male dominance may also be linked to terrorism, empirical tests are ultimately needed to support our prediction. Based on panel data for 128 developing countries for 1975 to 2011, we find that female gender imbalance results in more total and domestic terrorist attacks. This female gender imbalance does not affect transnational terrorism in developing countries or domestic and transnational terrorism in developed countries. Further tests show that gender imbalance affects terrorism only when bureaucratic institutions are weak. Many robustness tests support our results.

  7. Prism adaptation improves postural imbalance in neglect patients

    NARCIS (Netherlands)

    Nijboer, Tanja C W; Olthoff, Liselot; Van der Stigchel, Stefan; Visser-Meily, Johanna M a

    2014-01-01

    Several studies have found a negative relation between neglect and postural imbalance. The aim of the current study was to investigate the influence of a single session of prism adaptation on balance [i.e. mediolateral and anteroposterior center of pressure (CoP)] and postural sway (i.e. mean varian

  8. Pilot study on quantitative assessment of muscle imbalance: differences of muscle synergies, equilibrium-point trajectories, and endpoint stiffness in normal and pathological upper-limb movements.

    Science.gov (United States)

    Oku, Takanori; Uno, Kanna; Nishi, Tomoki; Kageyama, Masayuki; Phatiwuttipat, Pipatthana; Koba, Keitaro; Yamashita, Yuto; Murakami, Kenta; Uemura, Mitsunori; Hirai, Hiroaki; Miyazaki, Fumio; Naritomi, Hiroaki

    2014-01-01

    This paper proposes a novel method for assessment of muscle imbalance based on muscle synergy hypothesis and equilibrium point (EP) hypothesis of motor control. We explain in detail the method for extracting muscle synergies under the concept of agonist-antagonist (AA) muscle pairs and for estimating EP trajectories and endpoint stiffness of human upper limbs in a horizontal plane using an electromyogram. The results of applying this method to the reaching movement of one normal subject and one hemiplegic subject suggest that (1) muscle synergies (the balance among coactivation of AA muscle pairs), particularly the synergies that contributes to the angular directional kinematics of EP and the limb stiffness, are quite different between the normal subject and the hemiplegic subject; (2) the concomitant EP trajectory is also different between the normal and hemiplegic subjects, corresponding to the difference of muscle synergies; and (3) the endpoint (hand) stiffness ellipse of the hemiplegic subject becomes more elongated and orientation of the major axis rotates clockwise more than that of the normal subject. The level of motor impairment would be expected to be assessed from a comparison of these differences of muscle synergies, EP trajectories, and endpoint stiffness among normal and pathological subjects using the method.

  9. 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.

  10. 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 ...

  11. 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.

  12. Nucleotide variation and identification of novel blast resistance alleles of Pib by allele mining strategy.

    Science.gov (United States)

    Ramkumar, G; Madhav, M S; Devi, S J S Rama; Prasad, M S; Babu, V Ravindra

    2015-04-01

    Pib is one of significant rice blast resistant genes, which provides resistance to wide range of isolates of rice blast pathogen, Magnaporthe oryzae. Identification and isolation of novel and beneficial alleles help in crop enhancement. Allele mining is one of the best strategies for dissecting the allelic variations at candidate gene and identification of novel alleles. Hence, in the present study, Pib was analyzed by allele mining strategy, and coding and non-coding (upstream and intron) regions were examined to identify novel Pib alleles. Allelic sequences comparison revealed that nucleotide polymorphisms at coding regions affected the amino acid sequences, while the polymorphism at upstream (non-coding) region affected the motifs arrangements. Pib alleles from resistant landraces, Sercher and Krengosa showed better resistance than Pib donor variety, might be due to acquired mutations, especially at LRR region. The evolutionary distance, Ka/Ks and phylogenetic analyzes also supported these results. Transcription factor binding motif analysis revealed that Pib (Sr) had a unique motif (DPBFCOREDCDC3), while five different motifs differentiated the resistance and susceptible Pib alleles. As the Pib is an inducible gene, the identified differential motifs helps to understand the Pib expression mechanism. The identified novel Pib resistant alleles, which showed high resistance to the rice blast, can be used directly in blast resistance breeding program as alternative Pib resistant sources.

  13. 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

    The present study focuses on process imbalances in Danish centralized biogas plants treating manure in combination with industrial waste. Collection of process data from various full-scale plants along with a number of interviews showed that imbalances occur frequently. High concentrations...

  14. Theoretical predictions of transverse kinematic imbalance in neutrino-nucleus interactions

    CERN Document Server

    Pickering, Luke

    2016-01-01

    Distributions of transverse kinematic imbalance in neutrino-nucleus interactions in the few GeV regime are sensitive to nuclear effects. We present a study comparing the latest predictions of transverse kinematic imbalance from the interaction simulations, NuWro and GENIE. We dis- cuss the differences between the model predictions.

  15. 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

  16. Meiosis study in a population sample from Nigeria: allele frequencies and mutation rates of 16 STR loci.

    Science.gov (United States)

    Hohoff, Carsten; Schürenkamp, Marianne; Brinkmann, Bernd

    2009-05-01

    Allele frequencies for the 16 short tandem repeat (STR) loci D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, ACTBP2, CSF1PO, FGA, TH01, TPOX and VWA were determined for 337 immigrants from Nigeria. All loci were in Hardy-Weinberg equilibrium. More than 6,000 meiotic transfers were investigated and ten mutations were observed. Single mutations were observed in the STR systems D2S1338, D3S1358, D7S820, D8S1179, D16S539 and FGA, whereas two mutations were observed in the systems D21S11 and VWA.

  17. The study of Allelic Frequency of ABO and Rh D Blood Group among the Banjara Population of Akola District, Maharashtra, India

    Directory of Open Access Journals (Sweden)

    Aravind Chavhan

    2012-12-01

    Full Text Available The distribution of ABO blood groups and Rh (D factor has been studied in the Banjara population. In the present study O, A, B, and AB blood group percentages of Banjaras of Akola district of Maharashtra are recorded as 27.64%, 22.91%, 37.45% and 12% respectively and the Rh negative incidences recorded as 02.55%. The allelic frequencies of O, A, B and AB groups in the combined data of same community found to be 0.5196, 0.2880, and 0.1924 respectively and Rh (D positive as 0.8405.

  18. REGIONAL IMBALANCES IN DISTRIBUTION OF BULGARIAN HEALTH PROFESSIONALS

    Directory of Open Access Journals (Sweden)

    Maria Rohova

    2017-01-01

    Full Text Available Introduction: There are many factors influencing health inequities; health workforce availability and skill mix are among them. Regional distribution of health workers determines access to health services. The aim of this study is to analyse and to assess the distribution of health professionals among the statistical regions and districts in Bulgaria. Methods and materials: The current study uses health professionals to population ratio, Gini index and Lorenz curve to measure and assess the proportionality of health workers distribution. Data are provided from the National Statistical Institute and European Health for All databases. Results and discussion: In Bulgaria, health professionals per population ratio are comparable with the EU average except for the nurses. Beside the shortage of nursing professionals, geographically uneven distribution of health workers is among the main challenges in human resource management.Regional imbalances are significant among the districts in the country. More than half of the physicians are concentrated in 6 districts. The analysis shows an upward trend in imbalances, expressed as absolute or relative differences.The distribution of dentists is much more variant and diverse than this of physicians. The values of Gini index for specialised medical care also reveal considerable imbalances. Conclusions: Differet coefficients have proved the unequal distribution of health workers among the districts.Regional imbalances are not the only reason for health inequities in Bulgaria but they have significant influence in rural and remote areas and in regions with high unemployment, low incomes and ageing population.

  19. 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

  20. Muscle activation imbalance and low-back injury in varsity athletes.

    Science.gov (United States)

    Reeves, N Peter; Cholewicki, Jacek; Silfies, Sheri P

    2006-06-01

    There are conflicting findings in the literature regarding erector spinae activation imbalance in people with low-back pain (LBP). Some studies have found asymmetric recruitment between muscle pairs in people with LBP, whilst other studies have not; some reported people with LBP recruit more lumbar muscles whilst other have reported greater thoracic activity. Using 242 varsity athletes, EMG activity of thoracic and lumbar erector spinae pairs was recorded during an isometric trunk extension. Activation imbalance among muscle pairs and levels was compared between athletes with and without a history of low-back injury (HxLBI). There were no group differences in the imbalance between sides, but the HxLBI group had greater activation imbalance between lumbar and thoracic levels than the No HxLBI group. Activation imbalance between levels was similar for individuals with No HxLBI and those who sustained first time injury suggesting that imbalance does not cause LBI. There was no difference between the athletes with single and multiple episode LBI, nor between short and long symptom duration suggesting that the presence of imbalance is not an impairment. Interestingly, activation imbalance occurred in both directions, meaning more thoracic activity for some, and more lumbar activity for others, which might be a functional adaptation related to pathology.

  1. Subacromial impingement syndrome: the role of posture and muscle imbalance.

    Science.gov (United States)

    Lewis, Jeremy S; Green, Ann; Wright, Christine

    2005-01-01

    Changes in upper body posture, colloquially termed forward head posture (FHP), are considered to be an etiologic factor in the pathogenesis of subacromial impingement syndrome (SIS). The literature suggests that postural deviations associated with FHP follow distinct patterns involving an increase in the thoracic kyphosis angle and a downwardly rotated, anteriorly tilted, and protracted scapula, which in turn leads to increased compression in the subacromial space. These postural changes are thought to occur concurrently with an imbalance of the musculature, and conservative rehabilitation commonly involves addressing both posture and muscle imbalance. There is a paucity of evidence supporting the hypothesis that posture and muscle imbalance are involved in the etiology of SIS. The purpose of this study was to investigate whether FHP was associated with an increased thoracic kyphosis, an altered position of the scapula; and a reduction in glenohumeral elevation range. Selected sagittal and frontal plane postural measurements were made in 60 asymptomatic subjects and 60 subjects with SIS. The findings suggested that upper body posture does not follow the set patterns described in the literature, and further research is required to determine whether upper body and scapular posture and muscle imbalance are involved in the pathogenesis of SIS.

  2. Association of hepatic lipase -514T allele with coronary artery disease and ankle-brachial index, dependence on the lipoprotein phenotype: the GENES study.

    Directory of Open Access Journals (Sweden)

    Céline Verdier

    Full Text Available OBJECTIVES: Relationship between hepatic lipase (LIPC polymorphism and coronary artery disease (CAD has often led to contradictory results. We studied this relation by genotyping rs1800588 in the LIPC promoter in a case-control study on CAD (the GENES study. We also investigated the relationship between this polymorphism and the ankle-brachial index (ABI, which is predictive of atherosclerosis progression and complications in patients at high cardiovascular risk. METHODS: 557 men aged 45-74 with stable coronary artery disease and 560 paired controls were genotyped for rs1800588. Medical data, clinical examination including determination of ABI and biological measurements related to cardiovascular risk factors enabled multivariate analyses and multiple adjustments. RESULTS: CAD cases showed a higher T-allele frequency than controls (0.246 vs 0.192, p = 0.003. An interaction has been found between LIPC polymorphism and triglycerides (TG levels regarding risk of CAD: TT-homozigosity was associated with an Odds ratio (OR of 6.4 (CI: 1.8-22.3 when TG were below 1.5 g/L, but no association was found at higher TG levels (OR = 1.34, CI: 0.3-5.9. The distribution of LIPC genotypes was compared between CAD patients with normal or abnormal ABI and impact of LIPC polymorphism on ABI was determined. Following multiple adjustments, association of the T-allele with pejorative ABI (<0.90 was significant for heterozygotes and for all T-carriers (OR = 1.55, CI: 1.07-2.25. CONCLUSION: The -514T LIPC allele is associated with CAD under normotriglyceridemic conditions and constitutes an independent determinant of pejorative ABI in coronary patients.

  3. Large Genomic Imbalances in Brugada Syndrome

    Science.gov (United States)

    Riuró, Helena; Mates, Jesus; Pérez-Serra, Alexandra; Coll, Mònica; Porres, José Manuel; del Olmo, Bernat; Iglesias, Anna; Selga, Elisabet; Picó, Ferran; Pagans, Sara; Ferrer-Costa, Carles; Sarquella-Brugada, Geòrgia; Arbelo, Elena; Cesar, Sergi; Brugada, Josep; Campuzano, Óscar; Brugada, Ramon

    2016-01-01

    Purpose Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A) uncovers disease-causing SNVs and/or indels in ~20% of cases. Limited information exists about the frequency of copy number variants (CNVs) in SCN5A in BrS patients, and the role of CNVs in BrS-minor genes is a completely unexplored field. Methods 220 BrS patients with negative genetic results were studied to detect CNVs in SCN5A. 63 cases were also screened for CNVs in BrS-minor genes. Studies were performed by Multiplex ligation-dependent probe amplification or Next-Generation Sequencing (NGS). Results The detection rate for CNVs in SCN5A was 0.45% (1/220). The detected imbalance consisted of a duplication from exon 15 to exon 28, and could potentially explain the BrS phenotype. No CNVs were found in BrS-minor genes. Conclusion CNVs in current BrS-related genes are uncommon among BrS patients. However, as these rearrangements may underlie a portion of cases and they undergo unnoticed by traditional sequencing, an appealing alternative to conventional studies in these patients could be targeted NGS, including in a single experiment the study of SNVs, indels and CNVs in all the known BrS-related genes. PMID:27684715

  4. A New Strategy to Reduce Allelic Bias in RNA-Seq Readmapping

    Science.gov (United States)

    2012-01-01

    Williams,B.A., McCue,K., Schaeffer,L. and Wold ,B. (2008) Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat. Methods, 5, 621–628. 2. Trapnell...Hunt,K.A., Bockett,N., Franke,L., Dubois,P.C., Mein,C.A., Dobson,R.J. et al. (2010) Genome- wide analysis of allelic expression imbalance in human...K.W. (2002) Allelic variation in human gene expression. Science , 297, 1143. 6. Knight,J.C. (2004) Allele-specific gene expression uncovered. Trends

  5. 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.

  6. 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

    with triple-negative breast cancer (TNBC). In serous ovarian cancer treated with platinum-based chemotherapy, higher levels of NtAI forecast a better initial response. We found an inverse relationship between BRCA1 expression and NtAI in sporadic TNBC and serous ovarian cancers without BRCA1 or BRCA2 mutation...

  7. 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 ...

  8. Forensic Loci Allele Database (FLAD): Automatically generated, permanent identifiers for sequenced forensic alleles.

    Science.gov (United States)

    Van Neste, Christophe; Van Criekinge, Wim; Deforce, Dieter; Van Nieuwerburgh, Filip

    2016-01-01

    It is difficult to predict if and when massively parallel sequencing of forensic STR loci will replace capillary electrophoresis as the new standard technology in forensic genetics. The main benefits of sequencing are increased multiplexing scales and SNP detection. There is not yet a consensus on how sequenced profiles should be reported. We present the Forensic Loci Allele Database (FLAD) service, made freely available on http://forensic.ugent.be/FLAD/. It offers permanent identifiers for sequenced forensic alleles (STR or SNP) and their microvariants for use in forensic allele nomenclature. Analogous to Genbank, its aim is to provide permanent identifiers for forensically relevant allele sequences. Researchers that are developing forensic sequencing kits or are performing population studies, can register on http://forensic.ugent.be/FLAD/ and add loci and allele sequences with a short and simple application interface (API).

  9. Association and linkage studies of the TAQI A1 allele at the dopamine D{sub 2} receptor gene in samples of female and male alcoholics

    Energy Technology Data Exchange (ETDEWEB)

    Neiswanger, K.; Hill, S.Y.; Kaplan, B.B. [Univ. of Pittsburgh, PA (United States)] [and others

    1995-08-14

    To address the controversy surrounding DRD2 and alcoholism, we performed linkage and association studies utilizing alcoholic men from high density families largely uncontaminated by other psychopathology and female alcoholics for whom secondary drug dependence (averaging 10 years later onset) was a prominent feature. The males and females were combined for a total of 52 alcoholics, and compared to 30 controls screened for the absence of alcoholism and other psychopathology, revealing a significant association between the frequency of the TaqI allele and alcoholism. However, linkage and family-based association study, placed in the context of the literature, suggest that minimizing psychopathology in control groups is probably a more important explanation for divergent results than either sampling error or population stratification. When combined with the complete lack of within-family evidence, we conclude that the association, while not specific to the alcoholism phenotype, per se. 37 refs., 2 tabs.

  10. 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

  11. BaalChIP: Bayesian analysis of allele-specific transcription factor binding in cancer genomes.

    Science.gov (United States)

    de Santiago, Ines; Liu, Wei; Yuan, Ke; O'Reilly, Martin; Chilamakuri, Chandra Sekhar Reddy; Ponder, Bruce A J; Meyer, Kerstin B; Markowetz, Florian

    2017-02-24

    Allele-specific measurements of transcription factor binding from ChIP-seq data are key to dissecting the allelic effects of non-coding variants and their contribution to phenotypic diversity. However, most methods of detecting an allelic imbalance assume diploid genomes. This assumption severely limits their applicability to cancer samples with frequent DNA copy-number changes. Here we present a Bayesian statistical approach called BaalChIP to correct for the effect of background allele frequency on the observed ChIP-seq read counts. BaalChIP allows the joint analysis of multiple ChIP-seq samples across a single variant and outperforms competing approaches in simulations. Using 548 ENCODE ChIP-seq and six targeted FAIRE-seq samples, we show that BaalChIP effectively corrects allele-specific analysis for copy-number variation and increases the power to detect putative cis-acting regulatory variants in cancer genomes.

  12. Comparison of HLA allelic imputation programs

    Science.gov (United States)

    Shaffer, Christian M.; Bastarache, Lisa; Gaudieri, Silvana; Glazer, Andrew M.; Steiner, Heidi E.; Mosley, Jonathan D.; Mallal, Simon; Denny, Joshua C.; Phillips, Elizabeth J.; Roden, Dan M.

    2017-01-01

    Imputation of human leukocyte antigen (HLA) alleles from SNP-level data is attractive due to importance of HLA alleles in human disease, widespread availability of genome-wide association study (GWAS) data, and expertise required for HLA sequencing. However, comprehensive evaluations of HLA imputations programs are limited. We compared HLA imputation results of HIBAG, SNP2HLA, and HLA*IMP:02 to sequenced HLA alleles in 3,265 samples from BioVU, a de-identified electronic health record database coupled to a DNA biorepository. We performed four-digit HLA sequencing for HLA-A, -B, -C, -DRB1, -DPB1, and -DQB1 using long-read 454 FLX sequencing. All samples were genotyped using both the Illumina HumanExome BeadChip platform and a GWAS platform. Call rates and concordance rates were compared by platform, frequency of allele, and race/ethnicity. Overall concordance rates were similar between programs in European Americans (EA) (0.975 [SNP2HLA]; 0.939 [HLA*IMP:02]; 0.976 [HIBAG]). SNP2HLA provided a significant advantage in terms of call rate and the number of alleles imputed. Concordance rates were lower overall for African Americans (AAs). These observations were consistent when accuracy was compared across HLA loci. All imputation programs performed similarly for low frequency HLA alleles. Higher concordance rates were observed when HLA alleles were imputed from GWAS platforms versus the HumanExome BeadChip, suggesting that high genomic coverage is preferred as input for HLA allelic imputation. These findings provide guidance on the best use of HLA imputation methods and elucidate their limitations. PMID:28207879

  13. Progress Towards a Quantum Degenerate Mixture with Extreme Mass Imbalance

    Science.gov (United States)

    Desalvo, B. J.; Johansen, Jacob; Chin, Cheng

    2016-05-01

    We report experimental progress towards a quantum degenerate Bose-Fermi mixture of 133 Cs and 6 Li. Beyond providing the largest mass imbalance of any bi-alkali mixture, this system exhibits multiple interspecies Feshbach resonances allowing wide tuning of the interaction strength and Efimov resonances potentially inducing three-body interactions. The use of a dual-color optical dipole trap in our experiment overcomes the large differential gravitational sag due to the mass imbalance and facilitates mixing the species nano-Kelvin temperatures allowing precision studies of interspecies interactions. Turning from few-body physics to many-body, we will present our efforts to reach simultaneous quantum degeneracy as well as discuss prospects of high resolution imaging of both species.

  14. 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.

  15. 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...... 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...... through reduced beta cell function. The impact of the diabetes risk G-allele of FAF1-rs17106184 on increased 2-hour insulin levels is however unexplained....

  16. Comparison of muscle strength imbalance in powerlifters and jumpers.

    Science.gov (United States)

    Luk, Hui-Ying; Winter, Christa; O'Neill, Elizabeth; Thompson, Brian A

    2014-01-01

    The purpose of the study was to examine the bilateral and unilateral force production difference in powerlifters (bilateral) and field jumpers (unilateral) to determine the existence of leg dominance. Nineteen powerlifters (PL; n = 11) and field jumpers (J; n = 8) were included in the study. Five different no arm swing countermovement jumps were randomized for testing: (a) double-leg jump; (b) dominant leg-specified double-leg jump; (c) nondominant leg-specified double-leg jump; (d) dominant leg-specified single-leg jump; and (e) nondominant leg-specified single-leg jump. The force, velocity, and power were measured via a forceplate. The Limb Symmetry Index (LSI% = (1 - ND limb/D limb) × 100%) was calculated for force imbalance between the dominant (N) and nondominant (ND) limb between PL and J. Based on the analysis, PL (mean = 2.75 ± 2.45%) had a lower LSI (p imbalance force production between limbs. This phenomenon is important for the strength coach to acknowledge, to perform an appropriate strength balance test during the off-season, and to implement a training program to reduce the force disparity between limbs. Neglecting the development of force imbalance between limbs may predispose healthy players to injury.

  17. Wide brick tunnel randomization - an unequal allocation procedure that limits the imbalance in treatment totals.

    Science.gov (United States)

    Kuznetsova, Olga M; Tymofyeyev, Yevgen

    2014-04-30

    In open-label studies, partial predictability of permuted block randomization provides potential for selection bias. To lessen the selection bias in two-arm studies with equal allocation, a number of allocation procedures that limit the imbalance in treatment totals at a pre-specified level but do not require the exact balance at the ends of the blocks were developed. In studies with unequal allocation, however, the task of designing a randomization procedure that sets a pre-specified limit on imbalance in group totals is not resolved. Existing allocation procedures either do not preserve the allocation ratio at every allocation or do not include all allocation sequences that comply with the pre-specified imbalance threshold. Kuznetsova and Tymofyeyev described the brick tunnel randomization for studies with unequal allocation that preserves the allocation ratio at every step and, in the two-arm case, includes all sequences that satisfy the smallest possible imbalance threshold. This article introduces wide brick tunnel randomization for studies with unequal allocation that allows all allocation sequences with imbalance not exceeding any pre-specified threshold while preserving the allocation ratio at every step. In open-label studies, allowing a larger imbalance in treatment totals lowers selection bias because of the predictability of treatment assignments. The applications of the technique in two-arm and multi-arm open-label studies with unequal allocation are described.

  18. 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.

  19. Positional Nystagmus in Patients Evaluated for Dizziness and Imbalance

    Directory of Open Access Journals (Sweden)

    Richard A. Roberts

    2016-01-01

    Full Text Available There is variability in the literature regarding the presence of positional nystagmus in healthy participants with reportedly normal vestibular and central nervous system function. This ranges from 7.5% to 88% and raises an important clinical question. If 88% of healthy participants have positional nystagmus then how is the clinician to interpret the presence of positional nystagmus in a patient presenting with dizziness and/or disequilibrium? The primary purpose of this investigation was to examine the prevalence and characteristics of positional nystagmus in patients evaluated specifically for dizziness and imbalance. Data was collected using retrospective chart review. 200 charts were randomly selected from all patients seen for evaluation of dizziness and imbalance over a period of eight months. Clinicians independently reviewed the data from positional testing for each chart. Nystagmus was present if there was a clear slow and fast phase component and there were three beats in a 10 s time window. Nystagmus direction and intensity data were collected. Results indicate positional nystagmus is present in 10.5% to 21% of patients evaluated for dizziness and imbalance. Use of liberal criteria for determining presence of positional nystagmus (i.e., 3 beats in 20 sec may account for higher prevalence rates across other studies.

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

    Science.gov (United States)

    Chaux, Enrique; Castellanos, Melisa

    2015-05-01

    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. 41:280-293, 2015. © 2014 Wiley Periodicals, Inc.

  1. 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

  2. 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.

  3. 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.

  4. 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)

  5. 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.

  6. Benchmarking binary classification models on data sets with different degrees of imbalance

    Institute of Scientific and Technical Information of China (English)

    Ligang ZHOU; Kin Keung LAI

    2009-01-01

    In practice, there are many binary classification problems, such as credit risk assessment, medical testing for determining if a patient has a certain disease or not, etc.However, different problems have different characteristics that may lead to different difficulties of the problem. One important characteristic is the degree of imbalance of two classes in data sets. For data sets with different degrees of imbalance, fire the commonly used binary classification methods still feasible? In this study, various binary classifi-cation models, including traditional statistical methods andnewly emerged methods from artificial intelligence, such as linear regression, discriminant analysis, decision tree, neural network, support vector machines, etc., are reviewed, and their performance in terms of the measure of classification accuracy and area under Receiver Operating Characteristic (ROC) curve are tested and compared on fourteen data sets with different imbalance degrees. The results help to select the appropriate methods for problems with different degrees of imbalance.

  7. Muscular Imbalance Correction in the Power Fitness Training

    OpenAIRE

    Olga E. Aftimichuk; Alexander V. Varvarich

    2013-01-01

    Muscular imbalance is one of the manifestations of pathological-biomechanical changes in muscular-skeletal system. It is the result of tonus-power imbalance of short and relaxed muscles. Muscle shortening is the most striking sign of muscular imbalance. Hypodynamia and passive lifestyle can cause such results. The paper justifies the experimental technique of women muscular imbalances correction by means of power training. Selection of exercises, weights and machines was made, taking into acc...

  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. 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...

  10. HLA-B alleles of the Cayapa of Ecuador: New B39 and B15 alleles

    Energy Technology Data Exchange (ETDEWEB)

    Garber, T.L.; Butler, L.M.; Watkins, D.I. [Univ. of Wisconsin, Madison, WI (United States)] [and others

    1995-05-01

    Recent data suggest that HLA-B locus alleles can evolve quickly in native South American populations. To investigate further this phenomenon of new HLA-B variants among Amerindians, we studied samples from another South American tribe, the Cayapa from Ecuador. We selected individuals for HLA-B molecular typing based upon their HLA class II typing results. Three new variants of HLA-B39 and one new variant of HLA-B15 were found in the Cayapa: HLA-B*3905, HLA-B*3906, HLA-B*3907, and HLA-B*1522. A total of thirteen new HLA-B alleles have now been found in the four South American tribes studied. Each of these four tribes studied, including the Cayapa, had novel alleles that were not found in any of the other tribes, suggesting that many of these new HLA-B alleles may have evolved since the Paleo-Indians originally populated South America. Each of these 13 new alleles contained predicted amino acid replacements that were located in the peptide binding site. These amino acid replacements may affect the sequence motif of the bound peptides, suggesting that these new alleles have been maintained by selection. New allelic variants have been found for all common HLA-B locus antigenic groups present in South American tribes with the exception of B48. In spite of its high frequency in South American tribes, no evidence for variants of B48 has been found in all the Amerindians studied, suggesting that B48 may have unique characteristics among the B locus alleles. 70 refs., 2 figs., 2 tabs.

  11. HLA-B alleles of the Cayapa of Ecuador: new B39 and B15 alleles.

    Science.gov (United States)

    Garber, T L; Butler, L M; Trachtenberg, E A; Erlich, H A; Rickards, O; De Stefano, G; Watkins, D I

    1995-01-01

    Recent data suggest that HLA-B locus alleles can evolve quickly in native South American populations. To investigate further this phenomenon of new HLA-B variants among Amerindians, we studied samples from another South American tribe, the Cayapa from Ecuador. We selected individuals for HLA-B molecular typing based upon their HLA class II typing results. Three new variants of HLA-B39 and one new variant of HLA-B15 were found in the Cayapa: HLA-B*3905, HLA-B*3906, HLA-B*3907, and HLA-B*1522. A total of thirteen new HLA-B alleles have now been found in the four South American tribes studied. Each of these four tribes studied, including the Cayapa, had novel alleles that were not found in any of the other tribes, suggesting that many of these new HLA-B alleles may have evolved since the Paleo-Indians originally populated South America. Each of these 13 new alleles contained predicted amino acid replacements that were located in the peptide binding site. These amino acid replacements may affect the sequence motif of the bound peptides, suggesting that these new alleles have been maintained by selection. New allelic variants have been found for all common HLA-B locus antigenic groups present in South American tribes with the exception of B48. In spite of its high frequency in South American tribes, no evidence for variants of B48 has been found in all the Amerindians studied, suggesting that B48 may have unique characteristics among the B locus alleles.

  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. Effects of specific muscle imbalance improvement training on the balance ability in elite fencers.

    Science.gov (United States)

    Kim, Taewhan; Kil, Sekee; Chung, Jinwook; Moon, Jeheon; Oh, Eunyoung

    2015-05-01

    [Purpose] The lunge Motion that occurs frequently in fencing training and matches results in imbalance of the upper and lower limbs muscles. This research focuses on the improvement of the imbalance that occurs in the national team fencers of the Republic of Korea through specific muscle imbalance improvement training. [Subjects] The subjects of this research were limited to right-handed male fencers. Nine male, right-handed national fencing athletes were selected for this study (4 epee, 5 sabre; age 28.2 ± 2.2 years; height 182.3 ± 4.0 cm; weight 76.5 ± 8.2 kg; experience 12.4 ± 3.0 years). [Methods] The specific muscle imbalance improvement training program was performed for 12 weeks and Pre-Post tests were to evaluate its effect on the experimental group. Measurements comprised anthropometry, test of balance, and movement analysis. [Results] After the training program, mediolateral sway of the nondominant lower limb and the balance scale showed statistically significant improvement. [Conclusion] The specific muscle imbalance improvement training program used in this research was proven to be effective for improving the muscle imbalance of elite fencers.

  14. 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.

  15. Chiral Imbalance in QCD and its consequences

    Directory of Open Access Journals (Sweden)

    Andrianov Alexander

    2016-01-01

    Full Text Available Under extreme conditions of high temperature and/or large quark (baryon density, the vacuum of QCD changes its properties, and deconfinement, chiral symmetry restoration as well as chiral symmetry breaking take place. These transitions (phases are accompanied by the rapid change in the rate and nature of topological transitions connecting different topological sectors. The heavy ion collisions (HIC program opens a possibility to study these phenomena in so-called non-Abelian Quark-gluon plasma (QGP. In these phases the currents of light quarks (vector and axial-vector can be independently examined for right-handed (RH and left-handed (LH quarks. To describe such a quark matter chiral chemical potential can be introduced to quantify the presence of chirality imbalance (ChI i.e. the difference between the average numbers of RH and LH quarks in the fireball after HIC. In this review talk we will focus our attention on the discussion of the ChI related developments in heavy ion physics at central collisions and the plans for the future experiments aimed at establishing (or falsifying the presence of Local spacial Parity Breaking (LPB in heavy ion data. We describe some of experimental observables in detecting the signal of LPB. A number of measurements is proposed that allow to reach a definite conclusion on the occurrence of LPB effects in non-Abelian QGP produced in central heavy ion collisions and its simulation within a number of QCD-inspired models is outlined. Based on the effective meson theory in the presence of Chern-Simons interaction it is found that the spectrum of massive vector mesons splits into three polarization components with different effective masses. Moreover a resonance broadening occurs that leads to an increase of spectral contribution to the dilepton production as compared to the vacuum state. The asymmetry in production of longitudinally and transversely polarized states of ρ and ω mesons for various values of the

  16. Chiral Imbalance in QCD and its consequences

    Science.gov (United States)

    Andrianov, Alexander; Andrianov, Vladimir; Espriu, Domenec

    2016-10-01

    Under extreme conditions of high temperature and/or large quark (baryon) density, the vacuum of QCD changes its properties, and deconfinement, chiral symmetry restoration as well as chiral symmetry breaking take place. These transitions (phases) are accompanied by the rapid change in the rate and nature of topological transitions connecting different topological sectors. The heavy ion collisions (HIC) program opens a possibility to study these phenomena in so-called non-Abelian Quark-gluon plasma (QGP). In these phases the currents of light quarks (vector and axial-vector) can be independently examined for right-handed (RH) and left-handed (LH) quarks. To describe such a quark matter chiral chemical potential can be introduced to quantify the presence of chirality imbalance (ChI) i.e. the difference between the average numbers of RH and LH quarks in the fireball after HIC. In this review talk we will focus our attention on the discussion of the ChI related developments in heavy ion physics at central collisions and the plans for the future experiments aimed at establishing (or falsifying) the presence of Local spacial Parity Breaking (LPB) in heavy ion data. We describe some of experimental observables in detecting the signal of LPB. A number of measurements is proposed that allow to reach a definite conclusion on the occurrence of LPB effects in non-Abelian QGP produced in central heavy ion collisions and its simulation within a number of QCD-inspired models is outlined. Based on the effective meson theory in the presence of Chern-Simons interaction it is found that the spectrum of massive vector mesons splits into three polarization components with different effective masses. Moreover a resonance broadening occurs that leads to an increase of spectral contribution to the dilepton production as compared to the vacuum state. The asymmetry in production of longitudinally and transversely polarized states of ρ and ω mesons for various values of the dilepton

  17. High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta

    Directory of Open Access Journals (Sweden)

    Clark Taane G

    2010-04-01

    Full Text Available Abstract Background Imprinted genes show expression from one parental allele only and are important for development and behaviour. This extreme mode of allelic imbalance has been described for approximately 56 human genes. Imprinting status is often disrupted in cancer and dysmorphic syndromes. More subtle variation of gene expression, that is not parent-of-origin specific, termed 'allele-specific gene expression' (ASE is more common and may give rise to milder phenotypic differences. Using two allele-specific high-throughput technologies alongside bioinformatics predictions, normal term human placenta was screened to find new imprinted genes and to ascertain the extent of ASE in this tissue. Results Twenty-three family trios of placental cDNA, placental genomic DNA (gDNA and gDNA from both parents were tested for 130 candidate genes with the Sequenom MassArray system. Six genes were found differentially expressed but none imprinted. The Illumina ASE BeadArray platform was then used to test 1536 SNPs in 932 genes. The array was enriched for the human orthologues of 124 mouse candidate genes from bioinformatics predictions and 10 human candidate imprinted genes from EST database mining. After quality control pruning, a total of 261 informative SNPs (214 genes remained for analysis. Imprinting with maternal expression was demonstrated for the lymphocyte imprinted gene ZNF331 in human placenta. Two potential differentially methylated regions (DMRs were found in the vicinity of ZNF331. None of the bioinformatically predicted candidates tested showed imprinting except for a skewed allelic expression in a parent-specific manner observed for PHACTR2, a neighbour of the imprinted PLAGL1 gene. ASE was detected for two or more individuals in 39 candidate genes (18%. Conclusions Both Sequenom and Illumina assays were sensitive enough to study imprinting and strong allelic bias. Previous bioinformatics approaches were not predictive of new imprinted genes

  18. Distribution of BoLA-DRB3 Allelic Frequencies and Identification of Two New Alleles in Iranian Buffalo Breed

    OpenAIRE

    Mosafer, J.; Heydarpour, M.; Manshad, E.; Russell, G.; Sulimova, G. E.

    2012-01-01

    The role of the major histocompatibility complex (MHC) in the immune response makes it an attractive candidate gene for associations with disease resistance and susceptibility. This study describes genetic variability in the BoLA-DRB3 in Iranian buffaloes. Heminested PCR-RFLP method was used to identify the frequency of BoLA-DRB3 alleles. The BoLA-DRB3 locus is highly polymorphic in the study herd (12 alleles). Almost 63.50% of the alleles were accounted for by four alleles (BoLA-DRB3.2 *48, ...

  19. Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.

    Directory of Open Access Journals (Sweden)

    Marguerite R Irvin

    Full Text Available African Americans have been understudied in genome wide association studies of diabetes and related traits. In the current study, we examined the joint association of single nucleotide polymorphisms (SNPs and copy number variants (CNVs with fasting insulin and an index of insulin resistance (HOMA-IR in the HyperGEN study, a family based study with proband ascertainment for hypertension. This analysis is restricted to 1,040 African Americans without diabetes. We generated allele specific CNV genotypes at 872,243 autosomal loci using Birdsuite, a freely available multi-stage program. Joint tests of association for SNPs and CNVs were performed using linear mixed models adjusting for covariates and familial relationships. Our results highlight SNPs associated with fasting insulin and HOMA-IR (rs6576507 and rs8026527, 3.7*10(-7≤P≤1.1*10(-5 near ATPase, class V, type 10A (ATP10A, and the L Type voltage dependent calcium channel (CACNA1D, rs1401492, P≤5.2*10(-6. ATP10A belongs to a family of aminophospholipid-transporting ATPases and has been associated with type 2 diabetes in mice. CACNA1D has been linked to pancreatic beta cell generation in mice. The two most significant copy variable markers (rs10277702 and rs361367; P<2.0*10(-4 were in the beta variable region of the T-cell receptor gene (TCRVB. Human and mouse TCR has been shown to mimic insulin and its receptor and could contribute to insulin resistance. Our findings differ from genome wide association studies of fasting insulin and other diabetes related traits in European populations, highlighting the continued need to investigate unique genetic influences for understudied populations such as African Americans.

  20. Examining Nuclear Effects in Neutrino Interactions with Transverse Kinematic Imbalance

    Science.gov (United States)

    Pickering, Luke

    We present a Monte Carlo truth study examining nuclear effects in charged-current neutrino interactions using observables constructed in the transverse plane. Three distributions are introduced that show very weak dependence on neutrino flux and its associated uncertainty. Measurements comparing these distributions between quasi-elastic-like and single charged pion final states will provide new constraints of nuclear effects. It is suggested that the on-axis position in the NuMI beam provides the correct flux to take advantage of this reduced energy dependence in measuring nuclear effect-generated transverse imbalances.

  1. 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

  2. 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.

  3. Choreography of Ig allelic exclusion.

    Science.gov (United States)

    Cedar, Howard; Bergman, Yehudit

    2008-06-01

    Allelic exclusion guarantees that each B or T cell only produces a single antigen receptor, and in this way contributes to immune diversity. This process is actually initiated in the early embryo when the immune receptor loci become asynchronously replicating in a stochastic manner with one early and one late allele in each cell. This distinct differential replication timing feature then serves an instructive mark that directs a series of allele-specific epigenetic events in the immune system, including programmed histone modification, nuclear localization and DNA demethylation that ultimately bring about preferred rearrangement on a single allele, and this decision is temporally stabilized by feedback mechanisms that inhibit recombination on the second allele. In principle, these same molecular components are also used for controlling monoallelic expression at other genomic loci, such as those carrying interleukins and olfactory receptor genes that require the choice of one gene out of a large array. Thus, allelic exclusion appears to represent a general epigenetic phenomenon that is modeled on the same basis as X chromosome inactivation.

  4. DMD transcript imbalance determines dystrophin levels.

    Science.gov (United States)

    Spitali, Pietro; van den Bergen, Janneke C; Verhaart, Ingrid E C; Wokke, Beatrijs; Janson, Anneke A M; van den Eijnde, Rani; den Dunnen, Johan T; Laros, Jeroen F J; Verschuuren, Jan J G M; 't Hoen, Peter A C; Aartsma-Rus, Annemieke

    2013-12-01

    Duchenne and Becker muscular dystrophies are caused by out-of-frame and in-frame mutations, respectively, in the dystrophin encoding DMD gene. Molecular therapies targeting the precursor-mRNA are in clinical trials and show promising results. These approaches will depend on the stability and expression levels of dystrophin mRNA in skeletal muscles and heart. We report that the DMD gene is more highly expressed in heart than in skeletal muscles, in mice and humans. The transcript mutated in the mdx mouse model shows a 5' to 3' imbalance compared with that of its wild-type counterpart and reading frame restoration via antisense-mediated exon skipping does not correct this event. We also report significant transcript instability in 22 patients with Becker dystrophy, clarifying the fact that transcript imbalance is not caused by premature nonsense mutations. Finally, we demonstrate that transcript stability, rather than transcriptional rate, is an important determinant of dystrophin protein levels in patients with Becker dystrophy. We suggest that the availability of the complete transcript is a key factor to determine protein abundance and thus will influence the outcome of mRNA-targeting therapies.

  5. Significant Association of HLA-B Alleles and Genotypes in Thai Children with Autism Spectrum Disorders: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Apichaya Puangpetch

    2015-01-01

    Full Text Available Autism is a severe neurodevelopmental disorder. Many susceptible causative genes have been identified. Most of the previous reports showed the relationship between the Human Leukocyte Antigen (HLA gene and etiology of autism. In order to identify HLA-B alleles associated with autism in Thai population, we compared the frequency of HLA-B allele in 364 autistic subjects with 952 normal subjects by using a two-stage sequence-specific oligonucleotide probe system (PCR-SSOP method based on flow-cytometry technology. HLA-B⁎13:02 (P=0.019, OR = 2.229, HLA-B⁎38:02 (P=0.049, OR = 1.628, HLA-B⁎44:03 (P=0.016, OR = 1.645, and HLA-B⁎56:01 (P = 1.78 × 10−4, OR = 4.927 alleles were significantly increased in autistic subjects compared with normal subjects. Moreover, we found that the HLA-B⁎18:02 (P=0.016, OR = 0.375 and HLA-B⁎46:12 (P=0.008, OR = 0.147 alleles were negatively associated with autism when compared to normal controls. Both alleles might have a protective role in disease development. In addition, four HLA-B genotypes of autistic patients had statistically significant relationship with control groups, consisting of HLA-B⁎3905/⁎5801 (P=0.032, OR = 24.697, HLA-B⁎2704/⁎5801 (P=0.022, OR = 6.872, HLA-B⁎3501/⁎4403 (P=0.021, OR = 30.269, and HLA-B⁎1801/⁎4402 (P = 0.017, OR = 13.757. This is the first report on HLA-B associated with Thai autism and may serve as a marker for genetic susceptibility to autism in Thai population.

  6. 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.

  7. 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.

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

    Science.gov (United States)

    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.

  9. 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.

  10. 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

  11. Muscular Imbalance Correction in the Power Fitness Training

    Directory of Open Access Journals (Sweden)

    Olga E. Aftimichuk

    2013-09-01

    Full Text Available Muscular imbalance is one of the manifestations of pathological-biomechanical changes in muscular-skeletal system. It is the result of tonus-power imbalance of short and relaxed muscles. Muscle shortening is the most striking sign of muscular imbalance. Hypodynamia and passive lifestyle can cause such results. The paper justifies the experimental technique of women muscular imbalances correction by means of power training. Selection of exercises, weights and machines was made, taking into account the anatomical and physiological characteristics of the body of women of second maturity. The indexes, obtained as a result of fitness programs testing, developed within the frameworks of correctional methods.

  12. 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.

  13. The effect of spinal manipulation on imbalances in leg strength.

    Science.gov (United States)

    Chilibeck, Philip D; Cornish, Stephen M; Schulte, Al; Jantz, Nathan; Magnus, Charlene R A; Schwanbeck, Shane; Juurlink, Bernhard H J

    2011-09-01

    We hypothesized that spinal manipulation (SM) would reduce strength imbalances between legs. Using an un-blinded randomized design, 28 males and 21 females (54 ± 19y) with at least a 15% difference in isometric strength between legs for hip flexion, extension, abduction, or knee flexion were randomized to treatment or placebo (mock spinal manipulation). Strength of the stronger and weaker legs for hip flexion, extension, abduction, and/or knee flexion was assessed before and after the intervention. SM reduced the relative strength difference between legs for knee flexion (mean ± SD 57 ± 53 to 5 ± 14%) and hip flexion (24 ± 12 to 11 ± 15%) compared to placebo (34 ± 29 to 24 ± 36%, and 20 ± 18 to 22 ± 26%, respectively) (p = 0.05). SM also improved strength in the weak leg for hip abduction (104 ± 43 to 116 ± 43 Nm) compared to placebo (84 ± 24 to 85 ± 31 Nm) (p = 0.03). This study suggests that spinal manipulation may reduce imbalances in strength between legs for knee and hip flexion.

  14. Shoulder strength imbalances as injury risk in handball.

    Science.gov (United States)

    Edouard, P; Degache, F; Oullion, R; Plessis, J-Y; Gleizes-Cervera, S; Calmels, P

    2013-07-01

    This study was conducted to analyze whether internal (IR) and external (ER) rotator shoulder muscles weakness and/or imbalance collected through a preseason assessment could be predictors of subsequent shoulder injury during a season in handball players. In preseason, 16 female elite handball players (HPG) and 14 healthy female nonathletes (CG) underwent isokinetic IR and ER strength test with use of a Con-Trex® dynamometer in a seated position with 45° shoulder abduction in scapular plane, at 60, 120 and 240°/s in concentric and at 60°/s in eccentric, for both sides. An imbalanced muscular strength profile was determined using -statistically selected cut-offs from CG values. For HPG, all newly incurred shoulder injuries were reported during the season. There were significant differences between HPG and CG only for dominant eccentric IR strength, ER/IR ratio at 240°/s and for IRecc/ERcon ratio. In HPG, IR and ER strength was higher, and ER/IR ratios lower for dominant than for nondominant side. The relative risk was 2.57 (95%CI: 1.60-3.54; Pmuscle strength increases on the dominant side without ER/IR imbalances; and higher injury risk was associated with imbalanced muscular strength profile.

  15. 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.

  16. Estimating Relatedness in the Presence of Null Alleles.

    Science.gov (United States)

    Huang, Kang; Ritland, Kermit; Dunn, Derek W; Qi, Xiaoguang; Guo, Songtao; Li, Baoguo

    2016-01-01

    Studies of genetics and ecology often require estimates of relatedness coefficients based on genetic marker data. However, with the presence of null alleles, an observed genotype can represent one of several possible true genotypes. This results in biased estimates of relatedness. As the numbers of marker loci are often limited, loci with null alleles cannot be abandoned without substantial loss of statistical power. Here, we show how loci with null alleles can be incorporated into six estimators of relatedness (two novel). We evaluate the performance of various estimators before and after correction for null alleles. If the frequency of a null allele is 0.5, the potency of estimation is too low and such a locus should be excluded. We make available a software package entitled PolyRelatedness v1.6, which enables researchers to optimize these estimators to best fit a particular data set.

  17. 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...

  18. 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.

  19. 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.

  20. 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....

  1. Population and mass imbalance in atomic Fermi gases

    NARCIS (Netherlands)

    Baarsma, J E; Gubbels, K.B.; Stoof, H.T.C.

    2010-01-01

    We develop an accurate theory of resonantly interacting Fermi mixtures with both spin and mass imbalance. We consider Fermi mixtures with arbitrary mass imbalances but focus, in particular, on the experimentally available Li6-K40 mixture. We determine the phase diagram of the mixture for different i

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

    OpenAIRE

    Jung, Hansang; 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...

  3. Is Visuospatial Hemineglect Longitudinally Associated With Postural Imbalance in the Postacute Phase of Stroke?

    NARCIS (Netherlands)

    van Nes, Ilse J. W.; van Kessel, Marlies E.; Schils, Fanny; Fasotti, Luciano; Geurts, Alexander C. H.; Kwakkel, Gert

    2009-01-01

    Introduction. The purpose of this study was to determine the longitudinal association of visuospatial hemineglect with postural imbalance in postacute stroke patients and to establish whether this relationship is confounded by other determinants. Methods. A prospective cohort study of 53 postacute s

  4. 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.

  5. Convulsion following gastroenteritis in children without severe electrolyte imbalance.

    Science.gov (United States)

    Ghorashi, Ziaaedin; Nezami, Nariman; Soltani-Ahari, Hassan; Ghorashi, Sona

    2010-01-01

    Three to five million children from among one billion with gastroenteritis die annually worldwide. The etiologic agent in developed countries is viral in 15-60% of cases, while in developing countries, bacteria and parasites are frequently reported as the etiologic factors. Neurologic signs including convulsion are seen in some cases of diarrhea. This study aimed to investigate the etiology, risk factors and short-term prognosis of gastroenteritis with convulsion. During a case-control study, 100 patients with gastroenteritis were enrolled into the case and control groups on the basis of convulsion or no convulsion development, respectively. This study was conducted in Tabriz Children's Hospital from March 2004 to March 2007. The age of patients ranged from 2 months to 7 years, and the groups were age- and sex-matched. Body temperature (BT), severity and type of dehydration, stool exam and culture, past history of convulsion in the patient and first-degree relatives, electrolyte imbalance, and short-term prognosis were studied and compared. The mean weight of groups was not different, while the frequency of fever at the time of admission, past history of febrile convulsion in first-degree relatives and severity of dehydration were significantly higher in the case group (p convulsion in the patient, shigellosis and antibiotic usage were also significantly higher in the case group (p = 0.025, p = 0.014 and p = 0.001). Convulsion mostly occurred in mild gastroenteritis accompanied with fever and positive history of febrile convulsion in first-degree relatives. History of febrile convulsion in the patient and shigellosis were associated with development of convulsion in patients with gastroenteritis. No significant electrolyte imbalance was observed in patients with gastroenteritis experiencing febrile convulsion.

  6. Association of allelic variation in genes mediating aspects of energy homeostasis with weight gain during administration of antipsychotic drugs (CATIE Study

    Directory of Open Access Journals (Sweden)

    Hemant K Tiwari

    2011-09-01

    Full Text Available Antipsychotic drugs are widely used in treating schizophrenia, bipolar disorder, and other psychiatric disorders. Many of these drugs, despite their therapeutic advantages, substantially increase body weight. We assessed the association of alleles of 31 genes implicated in body weight regulation with weight gain among patients being treated with specific antipsychotic medications in the CATIE trial, we found that rs2237988 in ATP-binding cassette subfamily C member 8 (ABCC8 , and rs11643744 and rs9922047 in Fat Mass and Obesity Associated (FTO were associated with such weight gain.

  7. Cooperation of Adhesin Alleles in Salmonella-Host Tropism

    Science.gov (United States)

    De Masi, Leon; Yue, Min; Hu, Changmin; Rakov, Alexey V.; Rankin, Shelley C.

    2017-01-01

    ABSTRACT Allelic combinations and host specificities for three fimbrial adhesins, FimH, BcfD, and StfH, were compared for 262 strains of Salmonella enterica serovar Newport, a frequent human and livestock pathogen. Like FimH, BcfD had two major alleles (designated A and B), whereas StfH had two allelic groups, each with two alleles (subgroup A1 and A2 and subgroup B1 and B2). The most prevalent combinations of FimH/BcfD/StfH alleles in S. Newport were A/A/A1 and B/B/B1. The former set was most frequently found in bovine and porcine strains, whereas the latter combination was most frequently found in environmental and human isolates. Bacteria genetically engineered to express Fim, Bcf, or Stf fimbriae on their surface were tested with the different alleles for binding to human, porcine, and bovine intestinal epithelial cells. The major allelic combinations with bovine and porcine strains (A/A/A1) or with human isolates (B/B/B1) provided at least two alleles capable of binding significantly better than the other alleles to an intestinal epithelial cell line from the respective host(s). However, each combination of alleles kept at least one allele mediating binding to an intestinal epithelial cell from another host. These findings indicated that allelic variation in multiple adhesins of S. Newport contributes to bacterial adaptation to certain preferential hosts without losing the capacity to maintain a broad host range. IMPORTANCE Salmonella enterica remains a leading foodborne bacterial pathogen in the United States; infected livestock serve often as the source of contaminated food products. A study estimated that over a billion Salmonella gastroenteritis cases and up to 33 million typhoid cases occur annually worldwide, with 3.5 million deaths. Although many Salmonella strains with a broad host range present preferential associations with certain host species, it is not clear what determines the various levels of host adaptation. Here, causal properties of host

  8. 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

  9. Bose polaron problem: Effect of mass imbalance on binding energy

    Science.gov (United States)

    Ardila, L. A. Peña; Giorgini, S.

    2016-12-01

    By means of quantum Monte Carlo methods we calculate the binding energy of an impurity immersed in a Bose-Einstein condensate at T =0 . The focus is on the attractive branch of the Bose polaron and on the role played by the mass imbalance between the impurity and the surrounding particles. For an impurity resonantly coupled to the bath, we investigate the dependence of the binding energy on the mass ratio and on the interaction strength within the medium. In particular, we determine the equation of state in the case of a static (infinite mass) impurity, where three-body correlations are irrelevant and the result is expected to be a universal function of the gas parameter. For the mass ratio corresponding to 40K impurities in a gas of 87Rb atoms, we provide an explicit comparison with the experimental findings of a recent study carried out at JILA.

  10. 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...

  11. Molecular genetic studies on the compatibility of HLA class II alleles in patients with unexplained recurrent miscarriage in the Japanese population.

    Science.gov (United States)

    Takakuwa, Koichi; Honda, Keisuke; Yokoo, Tomokazu; Hataya, Isao; Tamura, Masaki; Tanaka, Kenichi

    2006-01-01

    It is hypothesized that patients having unexplained recurrent miscarriage lack an appropriate immune reaction against their partner's antigens, which means possible compatibility of HLA antigens between the patient couples. The conclusion, however, has not yet been achieved, so the purpose was to determine whether significant compatibility of HLA class II exists between the couples. The HLA-DRB1 and -DQB1 genotypes were determined using PCR-RFLP method in 91 patient couples and in 72 normal couples. The number of patient couples with zero-allele mismatch was not significantly different compared with that of control couples regarding HLA-DRB1 genotype and phenotype, as well as regarding HLA-DQB1 genotype and phenotype. While the number of patient couples with zero- and one-allele mismatch was significantly higher compared with that in control as to HLA-DR and -DQ phenotype (P=0.029 by Chi-square test). In conclusion, it is suggested that the compatibility of HLA class II antigens between couples might be involved in the genesis of unexplained recurrent miscarriage.

  12. 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...

  13. 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....

  14. 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.

  15. Analysis and Compensation of Transmitter and Receiver I/Q Imbalances in Space-Time Coded Multiantenna OFDM Systems

    Directory of Open Access Journals (Sweden)

    Zou Yaning

    2008-01-01

    Full Text Available Abstract The combination of orthogonal frequency division multiplexing (OFDM and multiple-input multiple-output (MIMO techniques has been widely considered as the most promising approach for building future wireless transmission systems. The use of multiple antennas poses then big restrictions on the size and cost of individual radio transmitters and receivers, to keep the overall transceiver implementation feasible. This results in various imperfections in the analog radio front ends. One good example is the so-called I/Q imbalance problem related to the amplitude and phase matching of the transceiver I and Q chains. This paper studies the performance of space-time coded (STC multiantenna OFDM systems under I/Q imbalance, covering both the transmitter and the receiver sides of the link. The challenging case of frequency-selective I/Q imbalances is assumed, being an essential ingredient in future wideband wireless systems. As a practical example, the Alamouti space-time coded OFDM system with two transmit and M receive antennas is examined in detail and a closed-form solution for the resulting signal-to-interference ratio (SIR at the detector input due to I/Q imbalance is derived. This offers a valuable analytical tool for assessing the I/Q imbalance effects in any STC-OFDM system, without lengthy data or system simulations. In addition, the impact of I/Q imbalances on the channel estimation in the STC-OFDM context is also analyzed analytically. Furthermore, based on the derived signal models, a practical pilot-based I/Q imbalance compensation scheme is also proposed, being able to jointly mitigate the effects of frequency-selective I/Q imbalances as well as channel estimation errors. The performance of the compensator is analyzed using extensive computer simulations, and it is shown to virtually reach the perfectly matched reference system performance with low pilot overhead.

  16. Analysis and Compensation of Transmitter and Receiver I/Q Imbalances in Space-Time Coded Multiantenna OFDM Systems

    Directory of Open Access Journals (Sweden)

    Yaning Zou

    2007-12-01

    Full Text Available The combination of orthogonal frequency division multiplexing (OFDM and multiple-input multiple-output (MIMO techniques has been widely considered as the most promising approach for building future wireless transmission systems. The use of multiple antennas poses then big restrictions on the size and cost of individual radio transmitters and receivers, to keep the overall transceiver implementation feasible. This results in various imperfections in the analog radio front ends. One good example is the so-called I/Q imbalance problem related to the amplitude and phase matching of the transceiver I and Q chains. This paper studies the performance of space-time coded (STC multiantenna OFDM systems under I/Q imbalance, covering both the transmitter and the receiver sides of the link. The challenging case of frequency-selective I/Q imbalances is assumed, being an essential ingredient in future wideband wireless systems. As a practical example, the Alamouti space-time coded OFDM system with two transmit and M receive antennas is examined in detail and a closed-form solution for the resulting signal-to-interference ratio (SIR at the detector input due to I/Q imbalance is derived. This offers a valuable analytical tool for assessing the I/Q imbalance effects in any STC-OFDM system, without lengthy data or system simulations. In addition, the impact of I/Q imbalances on the channel estimation in the STC-OFDM context is also analyzed analytically. Furthermore, based on the derived signal models, a practical pilot-based I/Q imbalance compensation scheme is also proposed, being able to jointly mitigate the effects of frequency-selective I/Q imbalances as well as channel estimation errors. The performance of the compensator is analyzed using extensive computer simulations, and it is shown to virtually reach the perfectly matched reference system performance with low pilot overhead.

  17. 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.

  18. Imbalance of endogenous prostanoids in moderate-to-severe asthma

    Directory of Open Access Journals (Sweden)

    Masaya Takemura

    2017-01-01

    Conclusions: An imbalance in production, breakdown, or both between prostaglandin E2 and other prostanoids possibly due to epithelial damage may be involved in the pathogenesis of moderate-to-severe asthma.

  19. 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.

  20. Analyzing surface EMG signals to determine relationship between jaw imbalance and arm strength loss

    Directory of Open Access Journals (Sweden)

    Truong Quang Dang Khoa

    2012-08-01

    Full Text Available Abstract Background This study investigated the relationship between dental occlusion and arm strength; in particular, the imbalance in the jaw can cause loss in arm strength phenomenon. One of the goals of this study was to record the maximum forces that the subjects can resist against the pull-down force on their hands while biting a spacer of adjustable height on the right or left side of the jaw. Then EMG measurement was used to determine the EMG-Force relationship of the jaw, neck and arms muscles. This gave us useful insights on the arms strength loss due to the biomechanical effects of the imbalance in the jaw mechanism. Methods In this study to determine the effects of the imbalance in the jaw to the strength of the arms, we conducted experiments with a pool of 20 healthy subjects of both genders. The subjects were asked to resist a pull down force applied on the contralateral arm while biting on a firm spacer using one side of the jaw. Four different muscles – masseter muscles, deltoid muscles, bicep muscles and trapezoid muscles – were involved. Integrated EMG (iEMG and Higuchi fractal dimension (HFD were used to analyze the EMG signals. Results The results showed that (1 Imbalance in the jaw causes loss of arm strength contra-laterally; (2 The loss is approximately a linear function of the height of the spacers. Moreover, the iEMG showed the intensity of muscle activities decreased when the degrees of jaw imbalance increased (spacer thickness increased. In addition, the tendency of Higuchi fractal dimension decreased for all muscles. Conclusions This finding indicates that muscle fatigue and the decrease in muscle contraction level leads to the loss of arm strength.

  1. Structural imbalance promotes behavior analogous to aesthetic preference in domestic chicks.

    Directory of Open Access Journals (Sweden)

    Mark A Elliott

    Full Text Available BACKGROUND: Visual images may be judged 'aesthetic' when their positioning appears imbalanced. An apparent imbalance may signify an as yet incomplete action or event requiring more detailed processing. As such it may refer to phylogenetically ancient stimulus-response mechanisms such as those mediating attentional deployment. METHODOLOGY/PRINCIPAL FINDINGS: We studied preferences for structural balance or imbalance in week-old domestic chicks (Gallus gallus, using a conditioning procedure to reinforce pecking at either "aligned" (balanced or "misaligned" (imbalanced training stimuli. A testing phase with novel balanced and imbalanced stimuli established whether chicks would retain their conditioned behavior or revert to chance responding. Whereas those trained on aligned stimuli were equally likely to choose aligned or misaligned stimuli, chicks trained on misaligned stimuli maintained the trained preference. CONCLUSIONS/SIGNIFICANCE: Our results are consistent with the idea that the coding of structural imbalance is primary and even overrides classical conditioning. Generalized to the humans, these results suggest aesthetic judgments based upon structural imbalance may be based on evolutionarily ancient mechanisms, which are shared by different vertebrate species.

  2. 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.

  3. Distribution of BoLA-DRB3 allelic frequencies and identification of two new alleles in Iranian buffalo breed.

    Science.gov (United States)

    Mosafer, J; Heydarpour, M; Manshad, E; Russell, G; Sulimova, G E

    2012-01-01

    The role of the major histocompatibility complex (MHC) in the immune response makes it an attractive candidate gene for associations with disease resistance and susceptibility. This study describes genetic variability in the BoLA-DRB3 in Iranian buffaloes. Heminested PCR-RFLP method was used to identify the frequency of BoLA-DRB3 alleles. The BoLA-DRB3 locus is highly polymorphic in the study herd (12 alleles). Almost 63.50% of the alleles were accounted for by four alleles (BoLA-DRB3.2 ∗48, ∗20, ∗21, and obe) in Iranian buffalo. The DRB3.2 ∗48 allele frequency (24.20%) was higher than the others. The frequencies of the DRB3.2 ∗20 and DRB3.2 ∗21 are 14.52 and 14.00, respectively, and obe and gbb have a new pattern. Significant distinctions have been found between Iranian buffalo and other cattle breed studied. In the Iranian buffaloes studied alleles associated with resistance to various diseases are found.

  4. Distribution of BoLA-DRB3 Allelic Frequencies and Identification of Two New Alleles in Iranian Buffalo Breed

    Directory of Open Access Journals (Sweden)

    J. Mosafer

    2012-01-01

    Full Text Available The role of the major histocompatibility complex (MHC in the immune response makes it an attractive candidate gene for associations with disease resistance and susceptibility. This study describes genetic variability in the BoLA-DRB3 in Iranian buffaloes. Heminested PCR-RFLP method was used to identify the frequency of BoLA-DRB3 alleles. The BoLA-DRB3 locus is highly polymorphic in the study herd (12 alleles. Almost 63.50% of the alleles were accounted for by four alleles (BoLA-DRB3.2 *48, *20, *21, and obe in Iranian buffalo. The DRB3.2 *48 allele frequency (24.20% was higher than the others. The frequencies of the DRB3.2 *20 and DRB3.2 *21 are 14.52 and 14.00, respectively, and obe and gbb have a new pattern. Significant distinctions have been found between Iranian buffalo and other cattle breed studied. In the Iranian buffaloes studied alleles associated with resistance to various diseases are found.

  5. A mixture detection method based on separate amplification using primer specific alleles of INDELs-a study based on two person's DNA mixture.

    Science.gov (United States)

    Liu, Jinding; Wang, Jiaqi; Zhang, Xiaojia; Li, Zeqin; Yun, Keming; Liu, Zhizhen; Zhang, Gengqian

    2017-02-01

    Samples containing unbalanced DNA mixtures from individuals often occur in forensic DNA examination and clinical detection. Because of the PCR amplification bias, the minor contributor DNA is often masked by the major contributor DNA when using traditional STR or SNP typing techniques. Here we propose a method based in allele-specific Insertion/Deletion (INDEL) genotyping to detect DNA mixtures in forensic samples. Fourteen INDELs were surveyed in the Chinese Han population of Shanxi Province. The INDELs were amplified using two separate primer-specific reactions by real-time PCR. The difference Ct value of the 2 reactions (D-value) were used for determination of the single source DNA. INDELs types and further confirmed by electrophoresis separation. The minor allele frequency (MAF) was above 0.2 in 10 INDELs. The detection limit was 0.3125 ng-1.25 ng template DNA for real-time PCR in all 14 INDEL markers. For single source 10 ng DNA, the average D-value was 0.31 ± 0.14 for LS type, 6.96 ± 1.05 for LL type and 7.20 ± 1.09 for SS type. For the series of simulated DNA mixture, the Ct value varied between the ranges of single source DNA, depending on their INDEL typing and mixture ratios. This method can detect the specific allele of the minor DNA contributor as little as 1:50 in rs397782455 and rs397696936; 1:100 in rs397832665, rs397822382 and rs397897230; the detection limit of the minor DNA contributor was as little as 1:500-1:1000 in the rest INDEL markers, a much higher sensitivity compared with traditional STR typing. The D-value variation depended on the alternation of dilution ratio and INDEL types. When the dilution was 1:1000, the maximum and minimum D-values were 8.84 ± 0.11 in rs397897230 and 4.27 ± 0.19 in rs397897239 for LL and SS type mixture, the maximum and minimum D-values were 9.32 ± 0.54 in rs397897230 and 4.38 ± 0.26 in rs 397897239 for LL(SS) and LS type mixture, separately. Any D-value between 0.86 and 5.11 in the 14

  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...... is made on basis of three individual fragment sizes making the allele interpretation highly accurate. The method was employed to genotype 432 Malus accessions and exposed 25 different S-alleles in a selection of Malus domestica cultivars of mainly Danish origin (402 accessions) as well as a selection...

  7. 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.

  8. TP53*P72 allele influences negatively female life expectancy in a population of central Italy: cross-sectional study and genetic-demographic approach analysis.

    Science.gov (United States)

    Di Pietro, Fabio; Dato, Serena; Carpi, Francesco M; Corneveaux, Jason J; Serfaustini, Simona; Maoloni, Sebastiano; Mignini, Fiorenzo; Huentelman, Matthew J; Passarino, Giuseppe; Napolioni, Valerio

    2013-05-01

    The association of TP53 P72R (rs1042522) with longevity remains uncertain and varies with ethnicity. Here, we tested its association with longevity in a cross-sectional population of Central Italy (18-106 years, N = 1,072), by integrating demographic information and frequency data to account for the different survival rates between sexes through the application of a genetic-demographic approach. rs1042522 affects females longevity, showing significant associations in Comparison 2 (Age Class 3 [>91 years] vs Age Class 2 [73-91 years]) under both additive (odds ratio [OR] 0.574; p = .006) and dominant (OR 0.513; p = .006) models. The TP53*P72 allele is significantly underrepresented in Age Class 3 only in women (OR 0.575; p = .008). The genetic-demographic approach demonstrated that the frequency of female TP53*P72 carriers underwent a significant reduction after 82 years (OR 0.586; p = .002). The same analyses gave nonsignificant results in men. The discrepancies among the results obtained on rs1042522 for longevity could result from the pleiotropic effects of p53 and the potential ethnic variation of its functional variants.

  9. 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 peripheral white blood cells of 50 narcolepsy versus 47 controls (half of whom were DQB1*06:02 positive) and observed the largest differences between the groups in the signal from HLA probes. Further studies of HLA-DQ expression (mRNA and protein in a subset) in 125 controls and 147 narcolepsy cases did...... indicate that allelic dosage is transmitted into changes in heterodimer availability, a phenomenon that may explain the increased risk for narcolepsy in DQB1*06:02 homozygotes versus heterozygotes....

  10. 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.

  11. 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).

  12. 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...

  13. Allele Imbalance or Loss of Heterozygosity, in Normal Appearing Breast Epithelium as a Novel Biomarker to Predict Future Breast Cancer

    Science.gov (United States)

    2011-07-10

    were either in cassettes too large to fit a standard microtome [7/22] or were in large wax blocks [15/22]. We requested that the tissue be re...review Initially unuseable Not Poor Poor TDLUs TDLUs ɛ Stroma Too Histo Large Cassettes enough quality quality too lost TDLUs only many logically wax ...biopsies lacked atypia, and who had no fa mily history of breast cancer. 10-μ sections were cut from paraffin blocks and TDLUs were removed by laser

  14. 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

  15. Polymorphism of Mhc-DRB alleles in Cercopithecus aethiops (green monkey): generation and functionality.

    Science.gov (United States)

    Rosal-Sánchez, M; Paz-Artal, E; Moreno-Pelayo, M A; Martínez-Quiles, N; Martínez-Laso, J; Martín-Villa, J M; Arnaiz-Villena, A

    1998-05-01

    DRB genes have been studied for the first time in green monkeys (Cercopithecus aethiops). Eleven new DRB alleles (exon 2, exon 3) have been obtained and sequenced from cDNA. A limited number of lineages have been identified: DRB1*03 (4 alleles), DRB1*07 (3 alleles), DRB5 (1 allele), DRB*w6 (1 allele), and DRB*w7 (2 alleles). The existence of Ceae-DRB1 duplications is supported by the finding of 3 DRB1 alleles in 3 different individuals. Ceae-DRB1*0701 may be non-functional because it bears serine at position 82, which hinders molecule surface expression in mice; the allele is only found in Ceae-DRB duplicated haplotypes. Base changes in cDNA Ceae-DRB alleles are consistent with the generation of polymorphism by point mutations or short segment exchanges between alleles. The eleven green monkey DRB alleles meet the requirements for functionality as antigen-presenting molecules (perhaps, excluding DRB1*0701), since: 1) they have been isolated from cDNA and do not present deletions, insertions or stop codons: 2) structural motifs necessary for a correct folding of the molecule, for the formation of DR/DR dimers and for CD4 interactions are conserved, and 3) the number of non-synonymous substitutions is higher than the number of synonymous substitutions in the peptide binding region (PBR), while the contrary holds true for the non-PBR region.

  16. 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.

  17. Does observation of postural imbalance induce a postural reaction?

    Directory of Open Access Journals (Sweden)

    Banty Tia

    Full Text Available BACKGROUND: Several studies bring evidence that action observation elicits contagious responses during social interactions. However automatic imitative tendencies are generally inhibited and it remains unclear in which conditions mere action observation triggers motor behaviours. In this study, we addressed the question of contagious postural responses when observing human imbalance. METHODOLOGY/PRINCIPAL FINDINGS: We recorded participants' body sway while they observed a fixation cross (control condition, an upright point-light display of a gymnast balancing on a rope, and the same point-light display presented upside down. Our results showed that, when the upright stimulus was displayed prior to the inverted one, centre of pressure area and antero-posterior path length were significantly greater in the upright condition compared to the control and upside down conditions. CONCLUSIONS/SIGNIFICANCE: These results demonstrate a contagious postural reaction suggesting a partial inefficiency of inhibitory processes. Further, kinematic information was sufficient to trigger this reaction. The difference recorded between the upright and upside down conditions indicates that the contagion effect was dependent on the integration of gravity constraints by body kinematics. Interestingly, the postural response was sensitive to habituation, and seemed to disappear when the observer was previously shown an inverted display. The motor contagion recorded here is consistent with previous work showing vegetative output during observation of an effortful movement and could indicate that lower level control facilitates contagion effects.

  18. 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.

  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. Plasminogen alleles influence susceptibility to invasive aspergillosis.

    Directory of Open Access Journals (Sweden)

    Aimee K Zaas

    2008-06-01

    Full Text Available Invasive aspergillosis (IA is a common and life-threatening infection in immunocompromised individuals. A number of environmental and epidemiologic risk factors for developing IA have been identified. However, genetic factors that affect risk for developing IA have not been clearly identified. We report that host genetic differences influence outcome following establishment of pulmonary aspergillosis in an exogenously immune suppressed mouse model. Computational haplotype-based genetic analysis indicated that genetic variation within the biologically plausible positional candidate gene plasminogen (Plg; Gene ID 18855 correlated with murine outcome. There was a single nonsynonymous coding change (Gly110Ser where the minor allele was found in all of the susceptible strains, but not in the resistant strains. A nonsynonymous single nucleotide polymorphism (Asp472Asn was also identified in the human homolog (PLG; Gene ID 5340. An association study within a cohort of 236 allogeneic hematopoietic stem cell transplant (HSCT recipients revealed that alleles at this SNP significantly affected the risk of developing IA after HSCT. Furthermore, we demonstrated that plasminogen directly binds to Aspergillus fumigatus. We propose that genetic variation within the plasminogen pathway influences the pathogenesis of this invasive fungal infection.

  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. 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.

  3. Neoliberalism, trade imbalances, and economic policy in the Eurozone crisis

    Directory of Open Access Journals (Sweden)

    Engelbert Stockhammer

    2016-12-01

    Full Text Available This paper analyzes the causes of the Eurozone crisis. In doing so, it carefully surveys authors from different economic schools of thought. The paper discusses competing explanations for European current account imbalances. Remarkably, opposing views on the relative importance of cost developments and demand developments in explaining current account imbalances can be found in both heterodox and orthodox economics. Regarding the assessment of fiscal and monetary policy there is a clearer polarisation, with heterodox analysis regarding austerity as unhelpful and most of orthodox economics endorsing it. We advocate a post-Keynesian view, which holds that current account imbalances are not a fundamental cause of the sovereign debt crisis. Rather, the economic policy architecture of the Eurozone, which aims at restricting the role of fiscal and monetary policy, is the key to understanding the crisis in Europe.

  4. Blind estimation of carrier frequency offset, I/Q imbalance and DC offset for OFDM systems

    Science.gov (United States)

    Liu, Tao; Li, Hanzhang

    2012-12-01

    Sensitivity to carrier frequency offset (CFO) is one of the biggest drawbacks of orthogonal frequency division multiplexing (OFDM) system. A lot of CFO estimation algorithms had been studied for compensation of CFO in OFDM system. However, with the adoption of direct-conversion architecture (DCA), which introduces additional impairments such as dc offset (DCO) and in-phase/quadrature (I/Q) imbalance in OFDM system, the established CFO estimation algorithms suffer from performance degradation. In our previous study, we developed a blind CFO, I/Q imbalance and DCO estimation algorithm for OFDM systems with DCA. In this article, we propose an alternative algorithm with reduced computation complexity and better accuracy. Performance of the proposed algorithm is demonstrated by simulations.

  5. Shoulder muscle imbalance and subacromial impingement syndrome in overhead athletes.

    Science.gov (United States)

    Page, Phil

    2011-03-01

    Subacromial impingement is a frequent and painful condition among athletes, particularly those involved in overhead sports such as baseball and swimming. There are generally two types of subacromial impingement: structural and functional. While structural impingement is caused by a physical loss of area in the subacromial space due to bony growth or inflammation, functional impingement is a relative loss of subacromial space secondary to altered scapulohumeral mechanics resulting from glenohumeral instability and muscle imbalance. The purpose of this review is to describe the role of muscle imbalance in subacromial impingement in order to guide sports physical therapy evaluation and interventions.

  6. 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

  7. The U.S. Dollar and Global Imbalances

    OpenAIRE

    Liu, Kai; Zhou, Xuan

    2015-01-01

    Global Imbalances are mainly featured by the massive and long-lasting U.S. trade deficit. Since the Breton Woods system collapsed and was replaced by the Jamaica Agreement, the U.S. trade deficit has been lasting for about 40 years. This paper proves that permanent global imbalances can be sustainable due to the special role of the U.S. dollar, by building a two-country cash-in-advance growth model with a dollar standard in the international trade. The permanent U.S. trade deficit is an incre...

  8. 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.

  9. Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population

    Energy Technology Data Exchange (ETDEWEB)

    Zhong, N.; Houck, G.E. Jr.; Li, S.; Dobkin, C.; Brown, W.T. [New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY (United States); Xixian Liu; Shen Gou [Tongji Medical Univ., Wuhan (China)

    1994-07-15

    The CGG repeat size distribution of the fragile X mental retardation gene (FMR-1) was studied in a population of normal Chinese X chromosomes along with that of two proximal microsatellite polymorphic markers: FRAXAC1 and DXS548. The most common CGG repeat allele was 29 (47.2%) with 30 being second most common (26%). This distribution was different from that seen in Caucasian controls, where the most common allele was 30 repeats. Other differences with Caucasian controls included a secondary model peak at 36 repeats and the absence of peaks at 20 or 23 repeats. There were only two FRAXAC1 and five DXS548 alleles found in the Chinese sample. A striking linkage disequilibrium of FMR-1 alleles with FRAXAC1 alleles was observed, in that 90% of the 29 CGG repeat alleles but only 41% of the 30 CGG repeat alleles had the FRAXAC1 152 bp allele (18 AC repeats). This disequilibrium suggests that slippage between the closely spaced normal CGG repeat alleles, 29 and 30, and between 152 and 154 FRAXAC1 alleles is very rare. This study lays the groundwork for an understanding of founder chromosome effects in comparing Asian and Caucasian populations. 29 refs., 5 tabs.

  10. Fitness costs associated with evolved herbicide resistance alleles in plants.

    Science.gov (United States)

    Vila-Aiub, Martin M; Neve, Paul; Powles, Stephen B

    2009-12-01

    Predictions based on evolutionary theory suggest that the adaptive value of evolved herbicide resistance alleles may be compromised by the existence of fitness costs. There have been many studies quantifying the fitness costs associated with novel herbicide resistance alleles, reflecting the importance of fitness costs in determining the evolutionary dynamics of resistance. However, many of these studies have incorrectly defined resistance or used inappropriate plant material and methods to measure fitness. This review has two major objectives. First, to propose a methodological framework that establishes experimental criteria to unequivocally evaluate fitness costs. Second, to present a comprehensive analysis of the literature on fitness costs associated with herbicide resistance alleles. This analysis reveals unquestionable evidence that some herbicide resistance alleles are associated with pleiotropic effects that result in plant fitness costs. Observed costs are evident from herbicide resistance-endowing amino acid substitutions in proteins involved in amino acid, fatty acid, auxin and cellulose biosynthesis, as well as enzymes involved in herbicide metabolism. However, these resistance fitness costs are not universal and their expression depends on particular plant alleles and mutations. The findings of this review are discussed within the context of the plant defence trade-off theory and herbicide resistance evolution.

  11. 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.

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

    Directory of Open Access Journals (Sweden)

    Rong Li

    Full Text Available 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.

  13. 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

  14. Correlation between localization, age, and chromosomal imbalances in ependymal tumours as detected by CGH.

    Science.gov (United States)

    Jeuken, Judith W M; Sprenger, Sandra H E; Gilhuis, Job; Teepen, Hans L J M; Grotenhuis, Andre J; Wesseling, Pieter

    2002-06-01

    Ependymal tumours (ETs) are gliomas that arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Both clinical and genetic studies suggest that distinct genetic subtypes of ETs exist, the subtypes being correlated with patient age and/or tumour site. In the present study, the tumour genome of 20 ETs (15 adult and five paediatric cases) was screened for chromosomal imbalances by comparative genomic hybridization (CGH). The most frequently detected imbalances were -22q (75%), -10q (65%), -21 (50%), -16p (50%), -1p (45%), +4q (45%), -10p (45%), -2q (40%), -6 (40%), -19 (40%), -2p (35%), -3p (35%), and -16q (35%). Comparison of the chromosomal imbalances detected in ETs with those previously reported in oligodendroglial and astrocytic tumours revealed that in this respect ETs show similarities to these other gliomas. By combining these results with those of a recent study of Zheng et al. and Hirose et al., it was found that although ETs from different sites and from adult and paediatric patients show overlap at the CGH level, some chromosomal imbalances occur predominantly in a certain category. In adult patients, spinal ETs relatively often showed +2, +7, +12, and -14q; infratentorial ETs -22; and supratentorial ETs -9. In addition, in posterior fossa ETs, -6 and +9 were much more frequent in adults than in children. It is concluded that the genetic background of ETs is complex and partly determined by tumour site, histopathological subtype, and age of the patient.

  15. 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 ...

  16. 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.

  17. [Frequent allelic losses in tumor-associated stromal cells and tumor epitelium of prostate cancer].

    Science.gov (United States)

    Kekeeva, T V; Popova, O P; Shegaĭ, P V; Zavalishina, L E; Andreeva, Iu Iu; Zaletaev, D V; Nemtsova, M V

    2008-01-01

    It has become increasingly clear that tumor microenvironment plays a critical role in carcinogenesis. Accumulation of genetic alterations is typical not only for cancer epithelial cells but tumor-associated fibroblasts as well. Tumor epithelia, tumor-associated stroma from prostatectomy specimens of patients with prostate cancer and cells from prostatic intraepithelial neoplasia (PIN) and adjacent stroma from males with PIN were isolated by using laser capture microdissection. Microsatellite allelotyping was evaluated using 4 highly polymorphic markers for chromosomal regions 8p22, 16q23-24 and 13q14. Incidences of alterations (loss of heterozygosity or allelic imbalance) were 48% for region 8p22, 72% for 16q23 and 37% for 13q14. The LOH frequencies in tumor-associated stroma cells were very similar. Alterations at chromosome 13q were significantly associated with advanced tumor stage, whereas AI at 16q was also associated with high Gleason score and lymph node metastasis. We find some incidences of allelic imbalance in premalignant lesions in epithelial (16-27%) and stromal (7-22%) components. Our results show that the frequencies of genetic aberrations are as high in stromal cells as in tumor cells.

  18. 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

  19. 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.

  20. 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.

  1. 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.

    Science.gov (United States)

    Itou, Masaya; Sato, Mitsuharu; Kitano, Takashi

    2013-01-01

    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.

  2. 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.

  3. 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

  4. 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:

  5. Private consumption-savings behavior and macroeconomic imbalances

    NARCIS (Netherlands)

    de Castro Campos, M.

    2016-01-01

    Between the signing of the Maastricht Treaty in 1991 and 2007 many of the existing macroeconomic theories were applied to support the claim that the euro area was an optimal currency union and to argue that increasing macroeconomic imbalances were a logical part of the financial integration process.

  6. Addressing the pressing need to reduce global and European imbalances

    OpenAIRE

    Cozzi, Giovanni; McKinley, Terry

    2015-01-01

    This Policy Brief is focused on the need to reduce macroeconomic imbalances both globally and within Europe. In doing so, it employs the CAM global macroeconometric model to make projections of trends over roughly the next ten years, i.e., through 2025.

  7. 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 muscular imbalances in post-adolescent soccer players.

  8. Hypermethylated SUPERMAN epigenetic alleles in arabidopsis.

    Science.gov (United States)

    Jacobsen, S E; Meyerowitz, E M

    1997-08-22

    Mutations in the SUPERMAN gene affect flower development in Arabidopsis. Seven heritable but unstable sup epi-alleles (the clark kent alleles) are associated with nearly identical patterns of excess cytosine methylation within the SUP gene and a decreased level of SUP RNA. Revertants of these alleles are largely demethylated at the SUP locus and have restored levels of SUP RNA. A transgenic Arabidopsis line carrying an antisense methyltransferase gene, which shows an overall decrease in genomic cytosine methylation, also contains a hypermethylated sup allele. Thus, disruption of methylation systems may yield more complex outcomes than expected and can result in methylation defects at known genes. The clark kent alleles differ from the antisense line because they do not show a general decrease in genomic methylation.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. Quantification of allele-specific expression of a gene encoding strawberry polygalacturonase-inhibiting protein (PGIP) using Pyrosequencing((TM))

    NARCIS (Netherlands)

    Schaart, J.G.; Mehli, L.; Schouten, H.J.

    2005-01-01

    Recent studies indicate that allele-specific differences in gene expression are a common phenomenon. The extent to which differential allelic expression exists might be underestimated, due to the limited accuracy of the methods used so far. To demonstrate allele-specific expression, we investigated

  14. 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.

  15. 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.

  16. Upper limb muscle imbalance in tennis elbow: a functional and electromyographic assessment.

    Science.gov (United States)

    Alizadehkhaiyat, Omid; Fisher, Anthony C; Kemp, Graham J; Vishwanathan, Karthik; Frostick, Simon P

    2007-12-01

    The purpose of this study was to investigate strength, fatigability, and activity of upper limb musculature to elucidate the role of muscular imbalance in the pathophysiology of tennis elbow. Sixteen patients clinically diagnosed with tennis elbow, recruited from a university hospital upper limb orthopedic clinic, were compared with 16 control subjects with no history of upper limb musculoskeletal problem, recruited from university students and staff. Muscle strength was measured for grip, metacarpophalangeal, wrist, and shoulder on both sides. Electromyographic activity (RMS amplitude) and fatigue characteristics (median frequency slope) of five forearm and two shoulder muscles were measured during isometric contraction at 50% maximum voluntary contraction. All strength measurements showed dominance difference in C, but none in TE. In tennis elbow compared to controls, hand/wrist and shoulder strength and extensor carpi radialis (ECR) activity were reduced (p imbalance among forearm muscles (reduced extensor carpi radialis activity) in tennis elbow, probably due to protective pain-related inhibition, could lead to a widespread upper limb muscle imbalance.

  17. 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

  18. Tailor-made RNAi knockdown against triplet repeat disease-causing alleles.

    Science.gov (United States)

    Takahashi, Masaki; Watanabe, Shoko; Murata, Miho; Furuya, Hirokazu; Kanazawa, Ichiro; Wada, Keiji; Hohjoh, Hirohiko

    2010-12-14

    Nucleotide variations, including SNPs, in the coding regions of disease genes are important targets for RNAi treatment, which is a promising medical treatment for intractable diseases such as triplet repeat diseases. However, the identification of such nucleotide variations and the design of siRNAs conferring disease allele-specific RNAi are quite difficult. In this study we developed a pull-down method to rapidly identify coding SNP (cSNP) haplotypes of triple repeat, disease-causing alleles, and we demonstrated disease allele-specific RNAi that targeted cSNP sites in mutant Huntingtin alleles, each of which possessed a different cSNP haplotype. Therefore, the methods presented here allow for allele-specific RNAi knockdown against disease-causing alleles by using siRNAs specific to disease-linked cSNP haplotypes, and advanced progress toward tailor-made RNAi treatments for triplet repeat diseases.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

    Science.gov (United States)

    Coffee, Erin M; Yerkes, Laura; Ewen, Elizabeth P; Zee, Tiffany; Tolan, Dean R

    2010-02-01

    Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected patients; however, the frequencies of mutant alleles can differ by population. Here, 153 American HFI patients with 268 independent alleles were analyzed to identify the prevalence of seven known HFI-causing alleles (A149P, A174D, N334K, Delta4E4, R59Op, A337V, and L256P) in this population. Allele-specific oligonucleotide hybridization analysis was performed on polymerase chain reaction (PCR)-amplified genomic DNA from these patients. In the American population, the missense mutations A149P and A174D are the two most common alleles, with frequencies of 44% and 9%, respectively. In addition, the nonsense mutations Delta4E4 and R59Op are the next most common alleles, with each having a frequency of 4%. Together, the frequencies of all seven alleles make up 65% of HFI-causing alleles in this population. Worldwide, these same alleles make up 82% of HFI-causing mutations. This difference indicates that screening for common HFI alleles is more difficult in the American population. Nevertheless, a genetic screen for diagnosing HFI in America can be improved by including all seven alleles studied here. Lastly, identification of HFI patients presenting with classic symptoms and who have homozygous null genotypes indicates that aldolase B is not required for proper development or metabolic maintenance.

  4. 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

  5. Allele-specific enzymatic amplification of. beta. -globin genomic DNA for diagnosis of sickle cell anemia

    Energy Technology Data Exchange (ETDEWEB)

    Wu, D.Y.; Ugozzoli, L.; Pal, B.K.; Wallace, B. (Beckman Research Institute of the City of Hope, Duarte, CA (USA))

    1989-04-01

    A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell {beta}-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specific for the sickle cell allele and one specific for the normal allele, together with another primer complementary to both alleles were used in the polymerase chain reaction with genomic DNA templates. The allele-specific primers differed from each other in their terminal 3{prime} nucleotide. Under the proper annealing temperature and polymerase chain reaction conditions, these primers only directed amplification on their complementary allele. In a single blind study of DNA samples from 12 individuals, this method correctly and unambiguously allowed for the determination of the genotypes with no false negatives or positives. If ASPCR is able to discriminate all allelic variation (both transition and transversion mutations), this method has the potential to be a powerful approach for genetic disease diagnosis, carrier screening, HLA typing, human gene mapping, forensics, and paternity testing.

  6. A molecular method for S-allele identification in apple based on allele-specific PCR.

    Science.gov (United States)

    Janssens, G A; Goderis, I J; Broekaert, W F; Broothaerts, W

    1995-09-01

    cDNA sequences corresponding to two self-incompatibility alleles (S-alleles) of the apple cv 'Golden Delicious' have previously been described, and now we report the identification of three additional S-allele cDNAs of apple, one of which was isolated from a pistil cDNA library of cv 'Idared' and two of which were obtained by reverse transcription-PCR (RT-PCR) on pistil RNA of cv 'Queen's Cox'. A comparison of the deduced amino acid sequences of these five S-allele cDNAs revealed an average homology of 69%. Based on the nucleotide sequences of these S-allele cDNAs, we developed a molecular technique for the diagnostic identification of the five different S-alleles in apple cultivars. The method used consists of allele-specific PCR amplification of genomic DNA followed by digestion of the amplification product with an allele-specific restriction endonuclease. Analysis of a number of apple cultivars with known S-phenotype consistently showed coincidence of phenotypic and direct molecular data of the S-allele constitution of the cultivars. It is concluded that the S-allele identification approach reported here provides a rapid and useful method to determine the S-genotype of apple cultivars.

  7. 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,…

  8. 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

  9. 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.

  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.

  11. No association between MspI allele of the ADRA2A polymorphism and ADHD: meta-analysis of family-based studies.

    Science.gov (United States)

    Shiffrin, Nina D; Gruber, June; Glatt, Stephen J; Faraone, Stephen V

    2013-08-01

    There is evidence for a genetic contribution to attention-deficit hyperactivity disorder (ADHD), although no candidate genes have attained genome-wide significance to date. Given that the noradrenergic system has been implicated in ADHD, the gene for the α2-adrenergic receptor (ADRA2A) has been hypothesized to contribute to the pathogenesis of ADHD. The present investigation reports results from a meta-analysis of family-based studies that did not find a significant association between the MspI polymorphism of the ADRA2A gene and ADHD.

  12. Haplotype allelic classes for detecting ongoing positive selection

    Directory of Open Access Journals (Sweden)

    Lefebvre Jean-François

    2010-01-01

    Full Text Available Abstract Background Natural selection eliminates detrimental and favors advantageous phenotypes. This process leaves characteristic signatures in underlying genomic segments that can be recognized through deviations in allelic or haplotypic frequency spectra. To provide an identifiable signature of recent positive selection that can be detected by comparison with the background distribution, we introduced a new way of looking at genomic polymorphisms: haplotype allelic classes. Results The model combines segregating sites and haplotypic information in order to reveal useful data characteristics. We developed a summary statistic, Svd, to compare the distribution of the haplotypes carrying the selected allele with the distribution of the remaining ones. Coalescence simulations are used to study the distributions under standard population models assuming neutrality, demographic scenarios and selection models. To test, in practice, haplotype allelic class performance and the derived statistic in capturing deviation from neutrality due to positive selection, we analyzed haplotypic variation in detail in the locus of lactase persistence in the three HapMap Phase II populations. Conclusions We showed that the Svd statistic is less sensitive than other tests to confounding factors such as demography or recombination. Our approach succeeds in identifying candidate loci, such as the lactase-persistence locus, as targets of strong positive selection and provides a new tool complementary to other tests to study natural selection in genomic data.

  13. Effect of vibration on muscle strength imbalance in lower extremity using multi-control whole body vibration platform.

    Science.gov (United States)

    Yu, Chang Ho; Seo, Shin Bae; Kang, Seung Rok; Kim, Kyung; Kwon, Tae Kyu

    2015-01-01

    This study shows the improvement of muscle activity and muscle strength imbalance in the lower extremities through independent exercise loads in vibration platform. Twenty females of age 20 participated in this study. The subjects were divided into WBV group, with more than 10% of muscle strength imbalance between left and right the lower extremities, and control group, with less than 10% of muscle strength imbalance between left and right the lower extremities. As the prior experiment showed, different exercise postures provide different muscular activities. As a result, the highest muscular activity was found to be in the low squat posture. Therefore, the LS posture was selected for the exercise in this experiment. Vibration intensities were applied to dominant muscle and non-dominant muscle, and the vibration frequency was fixed at 25Hz for the WBV group. The control group was asked to perform the same exercise as the WBV group, without stimulated vibration. This exercise was conducted for a total of 4 weeks. As a result, the WBV group which showed an average deviation of 16% before the experiment, tended to decrease approximately to 5%. In this study, vibration exercise using load deviation is shown to be effective in improving the muscle strength imbalance.

  14. 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.

  15. Effects of Land Use Change on Imbalance in Ecosystem Services:A Case Study of Laizhou Bay Coastal Zone%从生态系统服务角度探究土地利用变化引起的生态失衡--以莱州湾海岸带为例

    Institute of Scientific and Technical Information of China (English)

    李晓炜; 侯西勇; 邸向红; 苏红帆

    2016-01-01

    Based on RS and GIS technology, using high-resolution Landsat TM image data in 2000, 2005, 2010 and 2014, taking typical Laizhou Bay coastal zone as the study area, the paper analyzed land use change in Lai-zhou Bay coastal zone from 2000 to 2014, and assessed the changes of ecosystem functions and ecosystem ser-vices value (ESV) by drawing a connection between the observed land use dynamics and the evaluation of ESV, based on the benefit transfer method. The outcomes indicated that:1) During the period 2000 to 2014, ESV of Laizhou Bay coastal zone decreased by 43%, from US$34.3 to 19.6 billion per year, net loss of yearly ecosystem service value was about US$14.7 billion. The ecosystem service functions were lost seriously. 2) The values of water supply service and air quality regulation are US$-6.48 and US$-0.22 billion per year, re-spectively. 3) The main causes of the decline of total ecosystem service value were the expansion of the con-struction land, salt pan, aquaculture, urban land and the decrease of the coastal wetland and cropland. 4) Sea and wetland reclamation caused US$16.2 billion loss of ecosystem service value yearly. The ecosystem ser-vice values of waste treatment, nursery service, genetic diversity, disturbance moderation, erosion prevention were lost seriously due to the loss of coastal wetlands. The ecosystem service value of water supply was lost se-riously due to the expansion of the construction land and urban land. Results in this paper would lead govern-ment officials to realize the importance of ecosystem functions and services in Laizhou Bay coastal zone and identify the core ecosystem services from a socio-economic perspective. Land use change may seem economi-cally profitable. However, after losing ecosystem services such as regulating or supporting services, the imbal-ance in ecosystem services would impact the human well-being and socio-economic development. Policy mak-ing should consider imbalance in ecosystem service, protect

  16. An isoenzyme study in the genus Lotus (Fabaceae) : Segregation of isoenzyme alleles in synthetic allo- and autotetraploids, and in L. corniculatus.

    Science.gov (United States)

    Raelson, J V; Lemaître, P C; Starkie, K M; Grant, W F

    1989-03-01

    Segregation of the cytosolic Pgi2 locus was studied among progeny of the synthetic allotetraploid (L. japonicus × L. alpinus)(2), the synthetic autotetraploid (L. alpinus)(2), and the cultivated tetraploid species L. corniculatus L. Evidence of an original diploid duplication found within the interspecific hybrid L. japonicus × L. alpinus was also found within the synthetic allotetraploid (quadruplication of loci). Evidence suggesting quadruplication of loci was also found in the tetraploid L. corniculatus, but not in the synthetic autotetraploid (L. alpinus)(2). It is suggested that the original duplication resulted from unequal crossing-over between homoeologues and that it provides evidence that L. corniculatus is a segmental allotetraploid. Quadruplication of loci in L. corniculatus could explain previously reported distorted tetrasomic ratios for segregation of qualitative characters in this species.

  17. Extinction time and age of an allele in a large finite population

    NARCIS (Netherlands)

    Herwaarden, van O.A.; Wal, van der N.J.

    2002-01-01

    For a single locus with two alleles we study the expected extinction and fixation times of the alleles under the influence of selection and genetic drift. Using a diffusion model we derive asymptotic approximations for these expected exit times for large populations. We consider the case where the f

  18. Allele frequency changes due to hitch-hiking in genomic selection programs

    DEFF Research Database (Denmark)

    Liu, Huiming; Sørensen, Anders Christian; Meuwissen, Theo H E;

    2014-01-01

    of inbreeding due to changes in allele frequencies and hitch-hiking. This study aimed at understanding the impact of using long-term genomic selection on changes in allele frequencies, genetic variation and the level of inbreeding. Methods Selection was performed in simulated scenarios with a population of 400...

  19. 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

    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...

  20. Germline allele-specific expression of DAPK1 in chronic lymphocytic leukemia.

    Directory of Open Access Journals (Sweden)

    Quan-Xiang Wei

    Full Text Available We previously reported a rare germline variant (c.1-6531 that resulted in allele-specific expression (ASE of death-associated protein kinase 1 (DAPK1 and predisposition to chronic lymphocytic leukemia (CLL. We investigated a cohort of CLL patients lacking this mutation for the presence of ASE of DAPK1. We developed a novel strategy that combines single-nucleotide primer extension (SNuPE with MALDI-TOF mass spectrometry, and detected germline DAPK1 ASE in 17 out of 120 (14.2% CLL patients associated with a trend towards younger age at diagnosis. ASE was absent in 63 healthy controls. Germline cells of CLL patients with ASE showed increased levels of DNA methylation in the promoter region, however, neither genetic nor further epigenetic aberrations could be identified in the DAPK1 5' upstream regulatory region, within distinct exons or in the 3'-UTR. We identified B-lymphoid malignancy related cell line models harboring allelic imbalance and found that allele-specific methylation in DAPK1 is associated with ASE. Our data indicate that ASE at the DAPK1 gene locus is a recurrent event, mediated by epigenetic mechanisms and potentially predisposing to CLL.

  1. Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases.

    Directory of Open Access Journals (Sweden)

    Rong Chen

    Full Text Available Many disease-susceptible SNPs exhibit significant disparity in ancestral and derived allele frequencies across worldwide populations. While previous studies have examined population differentiation of alleles at specific SNPs, global ethnic patterns of ensembles of disease risk alleles across human diseases are unexamined. To examine these patterns, we manually curated ethnic disease association data from 5,065 papers on human genetic studies representing 1,495 diseases, recording the precise risk alleles and their measured population frequencies and estimated effect sizes. We systematically compared the population frequencies of cross-ethnic risk alleles for each disease across 1,397 individuals from 11 HapMap populations, 1,064 individuals from 53 HGDP populations, and 49 individuals with whole-genome sequences from 10 populations. Type 2 diabetes (T2D demonstrated extreme directional differentiation of risk allele frequencies across human populations, compared with null distributions of European-frequency matched control genomic alleles and risk alleles for other diseases. Most T2D risk alleles share a consistent pattern of decreasing frequencies along human migration into East Asia. Furthermore, we show that these patterns contribute to disparities in predicted genetic risk across 1,397 HapMap individuals, T2D genetic risk being consistently higher for individuals in the African populations and lower in the Asian populations, irrespective of the ethnicity considered in the initial discovery of risk alleles. We observed a similar pattern in the distribution of T2D Genetic Risk Scores, which are associated with an increased risk of developing diabetes in the Diabetes Prevention Program cohort, for the same individuals. This disparity may be attributable to the promotion of energy storage and usage appropriate to environments and inconsistent energy intake. Our results indicate that the differential frequencies of T2D risk alleles may

  2. Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases.

    Science.gov (United States)

    Chen, Rong; Corona, Erik; Sikora, Martin; Dudley, Joel T; Morgan, Alex A; Moreno-Estrada, Andres; Nilsen, Geoffrey B; Ruau, David; Lincoln, Stephen E; Bustamante, Carlos D; Butte, Atul J

    2012-01-01

    Many disease-susceptible SNPs exhibit significant disparity in ancestral and derived allele frequencies across worldwide populations. While previous studies have examined population differentiation of alleles at specific SNPs, global ethnic patterns of ensembles of disease risk alleles across human diseases are unexamined. To examine these patterns, we manually curated ethnic disease association data from 5,065 papers on human genetic studies representing 1,495 diseases, recording the precise risk alleles and their measured population frequencies and estimated effect sizes. We systematically compared the population frequencies of cross-ethnic risk alleles for each disease across 1,397 individuals from 11 HapMap populations, 1,064 individuals from 53 HGDP populations, and 49 individuals with whole-genome sequences from 10 populations. Type 2 diabetes (T2D) demonstrated extreme directional differentiation of risk allele frequencies across human populations, compared with null distributions of European-frequency matched control genomic alleles and risk alleles for other diseases. Most T2D risk alleles share a consistent pattern of decreasing frequencies along human migration into East Asia. Furthermore, we show that these patterns contribute to disparities in predicted genetic risk across 1,397 HapMap individuals, T2D genetic risk being consistently higher for individuals in the African populations and lower in the Asian populations, irrespective of the ethnicity considered in the initial discovery of risk alleles. We observed a similar pattern in the distribution of T2D Genetic Risk Scores, which are associated with an increased risk of developing diabetes in the Diabetes Prevention Program cohort, for the same individuals. This disparity may be attributable to the promotion of energy storage and usage appropriate to environments and inconsistent energy intake. Our results indicate that the differential frequencies of T2D risk alleles may contribute to the observed

  3. 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.

  4. 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.

  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. 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

  7. 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.

  8. Microevolution of S-allele frequencies in wild cherry populations: respective impacts of negative frequency dependent selection and genetic drift.

    Science.gov (United States)

    Stoeckel, Solenn; Klein, Etienne K; Oddou-Muratorio, Sylvie; Musch, Brigitte; Mariette, Stéphanie

    2012-02-01

    Negative frequency dependent selection (NFDS) is supposed to be the main force controlling allele evolution at the gametophytic self-incompatibility locus (S-locus) in strictly outcrossing species. Genetic drift also influences S-allele evolution. In perennial sessile organisms, evolution of allelic frequencies over two generations is mainly shaped by individual fecundities and spatial processes. Using wild cherry populations between two successive generations, we tested whether S-alleles evolved following NFDS qualitative and quantitative predictions. We showed that allelic variation was negatively correlated with parental allelic frequency as expected under NFDS. However, NFDS predictions in finite population failed to predict more than half S-allele quantitative evolution. We developed a spatially explicit mating model that included the S-locus. We studied the effects of self-incompatibility and local drift within populations due to pollen dispersal in spatially distributed individuals, and variation in male fecundity on male mating success and allelic frequency evolution. Male mating success was negatively related to male allelic frequency as expected under NFDS. Spatial genetic structure combined with self-incompatibility resulted in higher effective pollen dispersal. Limited pollen dispersal in structured distributions of individuals and genotypes and unequal pollen production significantly contributed to S-allele frequency evolution by creating local drift effects strong enough to counteract the NFDS effect on some alleles.

  9. 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.

  10. ABO genotyping in leukemia patients reveals new ABO variant alleles

    OpenAIRE

    Novaretti,M.C.Z.; DOMINGUES, A. E.; MANHANI, R.; Pinto, E M; Dorlhiac-Llacer, P.E.; Chamone, D.A.F.

    2008-01-01

    The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the present study was to perform ABO genotyping in patients with leukemia. Blood samples were collected from 108 Brazilian patients with chronic...

  11. Human Leukocyte Antigen Alleles and Cytomegalovirus Infection After Renal Transplantation

    Directory of Open Access Journals (Sweden)

    Futohi

    2015-11-01

    Full Text Available Background Several studies have been conducted on the relationship between a number of human leukocyte antigen (HLA alleles and cytomegalovirus infection (CMV, in kidney transplant recipients, after transplantation. However, only a limited number of HLAs have been investigated, so far, and the results have been contradictory. Objectives This study aimed to investigate the relationship between 59 HLA alleles and the CMV infection, in transplant recipients, after kidney transplantation. Patients and Methods This retrospective cohort study was conducted on 200 patients, receiving a kidney transplant, in Baqiyatallah Hospital, in Tehran, during 2013. Throughout a one-year follow-up of kidney transplant recipients, in case of detecting the CMV antigen in patients’ blood, at any time, they were placed in the group of patients with CMV infection, whereas, if no CMV-specific antigen was developed, over a year, patients were placed in the group of patients without CMV infection, after transplantation. This study investigated the relationship between CMV infection in kidney transplant recipients and 59 HLA alleles, including 14 HLA-A, 28 HLA-B, and 17 HLA-DRB1 cases. Results Of all participants, 104 patients (52% were diagnosed with CMV infection. There was no significant difference between the two groups, with and without CMV infection, in terms of patient’s characteristics. The CMV infection, in patients receiving a transplanted organ from deceased donor, was significantly more prevalent than in those receiving kidney transplant from living donor (63% vs. 39%, respectively, P = 0.001. Recipients with HLA-B44 were more infected with CMV compared with patients without this allele (80% vs. 50%, respectively, P = 0.024; on the contrary, kidney recipients with HLA-DRB1-1 were less infected with CMV than patients without this allele (31% vs. 55%, respectively, P = 0.020. There was no significant relationship between CMV infection and other HLA alleles

  12. Investigation Results on Solar Array Thermal & Electrical Imbalance Phenomenon on Power Systems Equipped with MPPT

    Science.gov (United States)

    Mercier, F.; Samaniego, B.; Soriano, T.; Beaufils, G.; Fernandez Lisbona, E.; Dettlaff, K.; Jensen, H.

    2014-08-01

    The thermal / electrical imbalance phenomenon on the satellite solar arrays is a common issue inherent to the negative thermal voltage coefficient of the triple junction cells, which is usually already taken into account with basic precautions on the solar panel layout.In the frame of the ESA TRP study "Investigation on Solar Array thermal and electrical imbalance phenomenon on power systems equipped with Maximum Power Point Tracker (MPPT)" performed by Airbus Defence & Space (former Astrium Toulouse and Ottobrunn) and TERMA, in-depth analyses were conducted for the first time to better understand and characterize the secondary maximum power point phenomenon for various representative mission cases, whether in Earth vicinity or not. With the help of a newly developed detailed thermo-electrical coupled solver and a wide range of solar cell characterizations in flux and temperature, multiple sets of simulations were run to simulate realistic solar panel characteristics.The study showed that no secondary false maximum power point can be created on the solar panel characteristic IV curve for missions around Earth vicinity, at the sole exception of critical shadowing cases. Furthermore, the same conclusions apply for missions up to Mars orbit. The only potential threats come from the missions further than Mars (typically Jupiter missions) where various very high heterogeneities could lead to multiple maxima. This is deeply linked to the LILT (low illumination low temperature) conditions applied to the current solar cell triple junction characteristics and shape. Moreover, thermo-electrical imbalances that do not create secondary power point can still seriously grieve the solar array power output performances. This power loss can however be accurately assessed by the newly developed solver in support of in-development missions like Juice.

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

    Directory of Open Access Journals (Sweden)

    Robert Śliwowski

    Full Text Available 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 < 0.05. There were statistically significant changes in RTEG (p < 0.05 related to PT for the hamstrings in both legs, which in turn resulted in an increase in the conventional hamstring/quadriceps ratio (H/Q. It is interesting that the statistically significant (p < 0.05 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.

  14. 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

  15. Estudo de HLA classes I e II em trinta pacientes equatorianos com artrite reumatoide em comparação com alelos de indivíduos sadios e afetados com outras doenças reumáticas Study of class I and II HLA alleles in 30 ecuadorian patients with rheumatoid arthritis compared with alleles from healthy and affected subjects with other rheumatic diseases

    Directory of Open Access Journals (Sweden)

    María Verónica Aguirre Arias

    2010-08-01

    between HLA-DR alleles and disease, but not in Ecuador. OBJECTIVE: The aim of this study was to determine the involvement of Class I and II HLA alleles in patients with RA. PATIENTS AND METHODS: This study was conducted in 30 adult patients with RA previously diagnosed, according to the classification criteria of the American College of Rheumatology (ACR, 1987 and 28 controls. For Class I and II HLA typing, we adopted the PCR-SSP, and statistical significances were evaluated by Chi-Square. RESULTS: HLA-DR4 is present in 76.7% of patients, with an allele frequency of 45%, while only 21% of control subjects presented it. The chi-square confirms that HLA-DR4 and RA variables are highly bound (X2 = 11.38, P = 0.00074. CONCLUSION: There is increased frequency of HLA-DR4 and HLA-DR14. The results are similar to those found in other studies. But it would be desirable to increase the sample size in order to find a greater number of genetic profiles and alleles involved.

  16. 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...... LCT is responsible for lactase persistence and appears to have been under strong directional selection in the last 5,000 years, evidenced by the widespread occurrence of this allele on an extended haplotype. In Africa and the Middle East, the situation is more complicated and at least three other...... alleles (−13907∗G, rs41525747; −13915∗G, rs41380347; −14010∗C, rs145946881) in the same LCT enhancer region can cause continued lactase expression. Here we examine the LCT enhancer sequence in a large lactose-tolerance-tested Ethiopian cohort of more than 350 individuals. We show that a further SNP...

  17. Behavior of Poverty in Mexico: A Review of the Imbalances

    OpenAIRE

    Barrón-Pérez, María Antonieta

    2015-01-01

    Behavior of Poverty in Mexico: A Review of the Imbalances AbstractIntroduction: The persistence of poverty in Mexico leads to the question, what are the elements that keep 53.3 million people, accounting for 45.5% of the population, at some level of poverty? The purpose of this article is therefore to show how social spending in Mexico has been unable to reduce poverty levelsin the country’s most backward entities, which is directly related to the criteria for allocation of social spending an...

  18. 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...

  19. Can ankle imbalance be a risk factor for tensor fascia lata muscle weakness?

    Science.gov (United States)

    Zampagni, Maria L; Corazza, I; Molgora, A Paladini; Marcacci, M

    2009-08-01

    Risk factors that can determine knee and ankle injuries have been investigated and causes are probably multifactorial. A possible explanation could be related by the temporary inhibition of muscular control following an alteration of proprioceptive regulation due to the ankle imbalance pathology. The purpose of our study was to validate a new experimental set up to quantify two kinesiologic procedures (Shock Absorber Test (SAT) and Kendall and Kendall's Procedure (KKP)) to verify if a subtalus stimulus in an ankle with imbalance can induce a non-appropriate response of controlateral tensor fascia lata muscle (TFL). Fifteen male soccer players with ankle imbalance (AIG) and 14 healthy (CG) were tested after (TEST) before (NO-TEST) a manual percussion in subtalus joint (SAT). A new tailor-made device equipped with a load cell was used to quantify TFL's strength activation in standardized positions. Two trials for each subject were performed, separated by at least one 4-min resting interval. In NO-TEST conditions both AIG and CG showed a progressive adaptation of the subject to the force imposed by operator. No reduction in mean force, mean peak force, and muscle force duration (p>0.5). AIG presented significant differences (mean difference 0.92+/-0.46 s; p=0.000) in muscle force duration in TEST conditions. Our results indicated that "wrong" proprioceptive stimuli coming from the subtalus joint in AIG might induce inhibition in terms of duration of TFL muscle altering the knee stability. This kinesiological evaluation might be useful to prevent ankle and knee injuries.

  20. 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.

  1. 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

  2. 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....

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

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    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.

  4. Frequencies of two CYP2C19 defective alleles (CYP2C19*2, and *3 among Iranian population in Mazandaran Province

    Directory of Open Access Journals (Sweden)

    Naghi Shahabi-Majd

    2013-02-01

    Conclusion: The result of the present study showed that the two inactive alleles of CYP2C19 accounted for 9.0% of CYP2C19 alleles in our sample versus 8.8 - 40.1% reported in other populations. The frequencies of the studied alleles resulted significant differences between our sample and African and Eastern Asian populations.

  5. 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.

  6. 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...... authors located studies that addressed the risk of COPD or measured lung function in individuals with the PI SZ, PI MS and PI SS genotypes. A separate meta-analysis for each genotype was performed. Aggregating data from six studies, the odds ratio (OR) for COPD in PI SZ compound heterozygotes compared...... with PI MM (normal) individuals was significantly increased at 3.26 (95% confidence intervals (CI): 1.24-8.57). In 17 cross-sectional and case-control studies, the OR for COPD in PI MS heterozygotes was 1.19 (95%CI: 1.02-1.38). However, PI MS genotype was not associated with COPD risk after correcting...

  7. 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,

  8. Functional conservation and coherence of HIV-1 subtype A Vpu alleles

    Science.gov (United States)

    Romani, Bizhan; Kavyanifard, Amirarsalan; Allahbakhshi, Elham

    2017-01-01

    Functional studies of HIV-1 proteins are normally conducted using lab adapted strains of HIV-1. The extent of those functions in clinical strains is sometimes unknown. In this study, we amplified and sequenced HIV-1 Vpu from 10 Iranian patients infected with HIV-1. Phylogenetic analysis indicated that the Vpu alleles were closely related to the CRF35_AD from Iran and subtype A Vpu. We addressed some of the well-established functions of the HIV-1 Vpu, as well as some of its recently reported functions. Ability of the clinical strains of subtype A Vpu alleles for downregulation of CD4 was similar to that of the lab adapted NL4.3 Vpu. Majority of the subtype A Vpu alleles performed stronger than NL4.3 Vpu for downregulation of SNAT1. The Vpu alleles differentially induced downregulation of HLA-C, ranging from no effect to 88% downregulation of surface HLA-C. Downregulation of tetherin and enhancement of virus release was similar for the subtype A Vpu alleles and NL4.3. Subtype A Vpu alleles were more potent when compared with NL4.3 for inhibition of NF-κB activation. Our study shows that subtype A Vpu alleles exert the classical functions of HIV-1 Vpu. PMID:28317943

  9. Determination of allele frequency in pooled DNA: comparison of three PCR-based methods.

    Science.gov (United States)

    Wilkening, Stefan; Hemminki, Kari; Thirumaran, Ranjit Kumar; Bermejo, Justo Lorenzo; Bonn, Stefan; Försti, Asta; Kumar, Rajiv

    2005-12-01

    Determination of allele frequency in pooled DNA samples is a powerful and efficient tool for large-scale association studies. In this study, we tested and compared three PCR-based methods for accuracy, reproducibility, cost, and convenience. The methods compared were: (i) real-time PCR with allele-specific primers, (ii) real-time PCR with allele-specific TaqMan probes, and (iii) quantitative sequencing. Allele frequencies of three single nucleotide polymorphisms in three different genes were estimated from pooled DNA. The pools were made of genomic DNA samples from 96 cases with basal cell carcinoma of the skin and 96 healthy controls with known genotypes. In this study, the allele frequency estimation made by real-time PCR with allele-specific primers had the smallest median deviation (MD) from the real allele frequency with 1.12% (absolute percentage points) and was also the cheapest method. However; this method required the most time for optimization and showed the highest variation between replicates (SD = 6.47%). Quantitative sequencing, the simplest method, was found to have intermediate accuracies (MD = 1.44%, SD = 4.2%). Real-time PCR with TaqMan probes, a convenient but very expensive method, had an MD of 1.47% and the lowest variation between replicates (SD = 3.18%).

  10. 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.

  11. Superoxide-hydrogen peroxide imbalance interferes with colorectal cancer cells viability, proliferation and oxaliplatin response.

    Science.gov (United States)

    Azzolin, Verônica Farina; Cadoná, Francine Carla; Machado, Alencar Kolinski; Berto, Maiquidieli Dal; Barbisan, Fernanda; Dornelles, Eduardo Bortoluzzi; Glanzner, Werner Giehl; Gonçalves, Paulo Bayard; Bica, Claudia Giugliano; da Cruz, Ivana Beatrice Mânica

    2016-04-01

    The role of superoxide dismutase manganese dependent enzyme (SOD2) in colorectal cancer is presently insufficiently understood. Some studies suggest that high SOD2 levels found in cancer tissues are associated with cancer progression. However, thus far, the role of colorectal cancer superoxide-hydrogen peroxide imbalance has not yet been studied. Thus, in order to address this gap in extant literature, we performed an in vitro analysis using HT-29 colorectal cell line exposed to paraquat, which generates high superoxide levels, and porphyrin, a SOD2 mimic molecule. The effect of these drugs on colorectal cancer cell response to oxaliplatin was evaluated. At 0.1 μM concentration, both drugs exhibited cytotoxic and antiproliferative effect on colorectal cancer cells. However, this effect was more pronounced in cells exposed to paraquat. Paraquat also augmented the oxaliplatin cytotoxic and antiproliferative effects by increasing the number of apoptosis events, thus causing the cell cycle arrest in the S and M/G2 phases. The treatments were also able to differentially modulate genes related to apoptosis, cell proliferation and antioxidant enzyme system. However, the effects were highly variable and the results obtained were inconclusive. Nonetheless, our findings support the hypothesis that imbalance caused by increased hydrogen peroxide levels could be beneficial to cancer cell biology. Therefore, the use of therapeutic strategies to decrease hydrogen peroxide levels mainly during oxaliplatin chemotherapy could be clinically important to the outcomes of colorectal cancer treatment.

  12. Caveolin-1 Promotes the Imbalance of Th17/Treg in Patients with Chronic Obstructive Pulmonary Disease.

    Science.gov (United States)

    Sun, Nina; Wei, Xiaofang; Wang, Jingluan; Cheng, Zhaozhong; Sun, Weihong

    2016-12-01

    The imbalance of Th17/Treg cells plays an important role in the pathogenesis of chronic obstructive pulmonary disease (COPD). Caveolin-1 (Cav-1) has been regarded as a potential critical regulatory protein in pathological mechanisms of chronic inflammatory respiratory diseases. Therefore, we investigated whether the loss of Cav-1 is involved in the homeostasis of Th17/Treg cells in COPD. We examined the expressions of plasma Cav-1 and circulating Th17, Treg cells, and the related cytokines in patients with COPD. Enzyme-linked immunosorbent assay (ELISA) analyses showed a significant reduction of plasma Cav-1 levels in patients with stable COPD (SCOPD) and acutely exacerbated COPD (AECOPD) compared to smokers without COPD. This loss was associated with an increase in frequency of Treg and decreased in frequency of Th17 cells. To further identify the role of Cav-1, we studied the effects of Cav-1 overexpression or downregulation on frequencies of Treg and Th17 cells in peripheral blood mononuclear cells (PBMCs) from subjects. Interestingly, small interfering RNA (siRNA) downregulation of Cav-1 was accompanied by an augmentation of Treg and reduction of Th17 expression. Together, our study demonstrated that the loss of Cav-1 contributed to the imbalance of Th17/Treg cells in patients with COPD.

  13. 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.

  14. Distribution of BoLA-DRB3 allelic frequencies and identification of a new allele in the iranian cattle breed sistani (Bos indicus).

    Science.gov (United States)

    Mohammadi, A; Nassiry, M R; Mosafer, J; Mohammadabadi, M R; Sulimova, G E

    2009-02-01

    The distribution of the frequencies of BoLA-DRB3 gene alleles in the Iranian cattle breed Sistani was studied by the PCR-RFLP ("hemi-nested") assay using restriction endonucleases RsaI, HaeIII and BstYI. In the examined cattle breed (65 animals) 32 alleles have been identified one of which being described for the first time (6.15% frequency). The nucleotide sequence of the polymorphic region of exon 2 of this allele has been determined and submitted in the GeneBank database under accession number DQ486519. The submitted sequence has maximum homology (92%) with the previously described sequence DRB3-mRNA from Bos indicus (AccN X79346) and differs from it by 24 nucleotide substitutions which result in 16 amino acid substitutions. The peptide (on the basis of the reconstructed amino acid sequence) has 89% identity to the sequence encoded by the BIDRBF 188 locus (Bos indicus). The results obtained permit the sequence described by us to be considered as a new allele of the BoLA-DRB3 gene (DRB3.2**X). The total frequency of the main six alleles (DRB3.2*X, *10, *11, *20, *34 and *X) occurring with a frequency of over 5% is about 60% in Iranian Sistani cattle. Fifteen alleles have DRB3.2*8 allele (21.54%) like in other previously described breeds of Bos indicus (up to 23.07%). The Iranian breed Sistani has a high level of similarity by the spectrum of BoLA-DRB3 alleles and their frequencies to other Bos indicus breeds and significantly differs by these criteria from the Bos taurus breeds. The Iranian Sistani herd under study includes alleles associated with to resistance to leukemia (DRB3.2*ll and *23) and to different forms of mastitis (DRB3.2*2, *7, *11, *23 and *24) although their frequencies are low (from 0.77 to 5.37%). On the whole, a high level of diversity of BoLA-DRB3 gene alleles and the availability of alleles associated with resistance to different diseases makes this breed of interest for breeding practice.

  15. 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....

  16. 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.

  17. 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.

  18. 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.

  19. Tracing pastoralist migrations to southern Africa with lactase persistence alleles.

    Science.gov (United States)

    Macholdt, Enrico; Lede, Vera; Barbieri, Chiara; Mpoloka, Sununguko W; Chen, Hua; Slatkin, Montgomery; Pakendorf, Brigitte; Stoneking, Mark

    2014-04-14

    Although southern African Khoisan populations are often assumed to have remained largely isolated during prehistory, there is growing evidence for a migration of pastoralists from eastern Africa some 2,000 years ago, prior to the arrival of Bantu-speaking populations in southern Africa. Eastern Africa harbors distinctive lactase persistence (LP) alleles, and therefore LP alleles in southern African populations may be derived from this eastern African pastoralist migration. We sequenced the lactase enhancer region in 457 individuals from 18 Khoisan and seven Bantu-speaking groups from Botswana, Namibia, and Zambia and additionally genotyped four short tandem repeat (STR) loci that flank the lactase enhancer region. We found nine single-nucleotide polymorphisms, of which the most frequent is -14010(∗)C, which was previously found to be associated with LP in Kenya and Tanzania and to exhibit a strong signal of positive selection. This allele occurs in significantly higher frequency in pastoralist groups and in Khoe-speaking groups in our study, supporting the hypothesis of a migration of eastern African pastoralists that was primarily associated with Khoe speakers. Moreover, we find a signal of ongoing positive selection in all three pastoralist groups in our study, as well as (surprisingly) in two foraging groups.

  20. A Study on Family Functions’ Imbalances of Rural Married Labors Working Abroad from Family Standard:Taking J County in Shandong Province as an Example%“家本位”视角下农村已婚出国劳工的家庭功能失衡研究--以山东省J县为例

    Institute of Scientific and Technical Information of China (English)

    刘兴花

    2016-01-01

    Working abroad has been one of the choices for rural families to become rich quickly.This study a-dopts the method of case interviews,and takes the families of rural married labors working abroad in J county in Shandong province as the research object,aiming to explore the status quo and the logic of family functions’ imbal-ances of rural married labors working abroad from family standard.The research indicates that under the background of poverty and economic temptation,many rural families in J county form the values of the supremacy of"economic rationality",which makes all family members subject to the whole family economic interests and involved in the process of cross-border flow through the family standard,thus family economic function overwhelms other family functions,and plays an absolutely important role,while other family functions,including sexual function,fertility function,education function,raising and support functions,as well as emotional communication function,are weakened and even ignored.The emphasis on family economic function can give rise to two effects:promoting effect and broken effect.The former can effectively remedy the influences caused by reduction of other family functions and strengthen the value of family standard,while the latter can lead to family breakdown and erode the value of family standard.%跨国务工逐渐成为农村家庭快速致富的选择途径之一。文章采用个案访谈法,以山东省J县的农村已婚出国劳工的家庭为研究对象,从“家本位”视角出发,对已婚出国劳工的家庭功能失衡及其逻辑进行探究。在贫困与经济诱惑的双重背景之下,J县许多农村家庭形成了“经济理性”至上的价值观。这种价值观通过“家本位”思想,使所有家庭成员都服从于家庭整体经济利益的实现,参与到跨国务工的过程中,由此家庭经济功能压倒家庭其他功能,占据了绝对重要的地位,而家庭其他功

  1. 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.

  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.

  3. 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.

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

    Science.gov (United States)

    Krings, Gautier M; Carpantier, Jean-François; Delvenne, Jean-Charles

    2014-01-01

    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 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.

  5. 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.

  6. 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.

  7. 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.

  8. Hamstrings-to-quadriceps strength and size ratios of male professional soccer players with muscle imbalance.

    Science.gov (United States)

    Denadai, Benedito Sérgio; de Oliveira, Felipe Bruno Dias; Camarda, Sérgio Ricardo de Abreu; Ribeiro, Leandro; Greco, Camila Coelho

    2016-03-01

    The aim of this study was to determine the correlation between the concentric hamstrings/quadriceps muscle strength (Hcon :Qcon ) and cross-sectional area ratios (Hcsa :Qcsa ) in professional soccer players with Hcon :Qcon imbalance. Nine male professional soccer players (25·3 ± 4·1 years) performed five maximal concentric contractions of the knee extensors (KE) and flexors (KF) at 60 s(-1) to assess Hcon :Qcon . The test was performed using the dominant (preferred kicking), and non-dominant limb with a 5-min recovery period was allowed between them. Only players with Hcon :Qcon muscle cross-sectional area (CSA) of KE and KF was determined by magnetic resonance imaging. The correlations between Hcon :Qcon and Hcsa :Qcsa in the dominant leg (r = -0·33), non-dominant leg (r = 0·19) and in the both legs combined (r = 0·28) were not statistically significant (P>0·05). Thus, the Hcon :Qcon seems not to be determined by Hcsa :Qcsa in professional soccer players with Hcon :Qcon imbalance.

  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. 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.

  11. Cylinder Imbalance Detection of Six Cylinder DI Diesel Engine Using Pressure Variation

    Directory of Open Access Journals (Sweden)

    S.H.Gawande

    2010-04-01

    Full Text Available In this research paper a simplified methodology is presented to detect cylinder imbalance in operating sixcylinder DI diesel engine. The detailed torsional vibration analysis helps to find vibratory frequencies, mode shapes, and vibratory stresses to provide constraints on critical speed in operating engine. The crank shaft is considered to be a rigid body so that the variation of the angular speed could be directly correlated to the cylinder pressure. Actuallythe variation of crank shaft speed has a complex function being influence by torsional stiffness of crank shaft, the mass moment of inertia of reciprocating and rotating masses and the average speed and load on the engine. The information carried by the harmonic order permits to established correlation between measurement and average gaspressure of the engine and to detect torque imbalance and identify faulty cylinder. In this work the detail pressure variation study is carried out on operating six cylinder engine of type SL90 Engine-SL8800TA model manufactured by Kirloskar Oil Engine Pune.

  12. Ankyrin-G isoform imbalance and interneuronopathy link epilepsy and bipolar disorder.

    Science.gov (United States)

    Lopez, A Y; Wang, X; Xu, M; Maheshwari, A; Curry, D; Lam, S; Adesina, A M; Noebels, J L; Sun, Q-Q; Cooper, E C

    2016-12-13

    ANK3, encoding the adaptor protein Ankyrin-G (AnkG), has been implicated in bipolar disorder by genome-wide association studies. ANK3 has multiple alternative first exons, and a bipolar disorder-associated ANK3 variant has been shown to reduce the expression of exon 1b. Here we identify mechanisms through which reduced ANK3 exon 1b isoform expression disrupts neuronal excitation-inhibition balance. We find that parvalbumin (PV) interneurons and principal cells differentially express ANK3 first exon subtypes. PV interneurons express only isoforms containing exon 1b, whereas excitatory principal cells express exon 1e alone or both 1e and 1b. In transgenic mice deficient for exon 1b, PV interneurons lack voltage-gated sodium channels at their axonal initial segments and have increased firing thresholds and diminished action potential dynamic range. These mice exhibit an Ank3 gene dosage-dependent phenotype including behavior changes modeling bipolar disorder, epilepsy and sudden death. Thus ANK3's important association with human bipolar susceptibility may arise from imbalance between AnkG function in interneurons and principal cells and resultant excessive circuit sensitivity and output. AnkG isoform imbalance is a novel molecular endophenotype and potential therapeutic target.Molecular Psychiatry advance online publication, 13 December 2016; doi:10.1038/mp.2016.233.

  13. 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.

  14. 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

  15. Reliability assessment of null allele detection: inconsistencies between and within different methods.

    Science.gov (United States)

    Dąbrowski, M J; Pilot, M; Kruczyk, M; Żmihorski, M; Umer, H M; Gliwicz, J

    2014-03-01

    Microsatellite loci are widely used in population genetic studies, but the presence of null alleles may lead to biased results. Here, we assessed five methods that indirectly detect null alleles and found large inconsistencies among them. Our analysis was based on 20 microsatellite loci genotyped in a natural population of Microtus oeconomus sampled during 8 years, together with 1200 simulated populations without null alleles, but experiencing bottlenecks of varying duration and intensity, and 120 simulated populations with known null alleles. In the natural population, 29% of positive results were consistent between the methods in pairwise comparisons, and in the simulated data set, this proportion was 14%. The positive results were also inconsistent between different years in the natural population. In the null-allele-free simulated data set, the number of false positives increased with increased bottleneck intensity and duration. We also found a low concordance in null allele detection between the original simulated populations and their 20% random subsets. In the populations simulated to include null alleles, between 22% and 42% of true null alleles remained undetected, which highlighted that detection errors are not restricted to false positives. None of the evaluated methods clearly outperformed the others when both false-positive and false-negative rates were considered. Accepting only the positive results consistent between at least two methods should considerably reduce the false-positive rate, but this approach may increase the false-negative rate. Our study demonstrates the need for novel null allele detection methods that could be reliably applied to natural populations.

  16. Complex and multi-allelic copy number variation in human disease.

    Science.gov (United States)

    Usher, Christina L; McCarroll, Steven A

    2015-09-01

    Hundreds of copy number variants are complex and multi-allelic, in that they have many structural alleles and have rearranged multiple times in the ancestors who contributed chromosomes to current humans. Not only are the relationships of these multi-allelic CNVs (mCNVs) to phenotypes generally unknown, but many mCNVs have not yet been described at the basic levels-alleles, allele frequencies, structural features-that support genetic investigation. To date, most reported disease associations to these variants have been ascertained through candidate gene studies. However, only a few associations have reached the level of acceptance defined by durable replications in many cohorts. This likely stems from longstanding challenges in making precise molecular measurements of the alleles individuals have at these loci. However, approaches for mCNV analysis are improving quickly, and some of the unique characteristics of mCNVs may assist future association studies. Their various structural alleles are likely to have different magnitudes of effect, creating a natural allelic series of growing phenotypic impact and giving investigators a set of natural predictions and testable hypotheses about the extent to which each allele of an mCNV predisposes to a phenotype. Also, mCNVs' low-to-modest correlation to individual single-nucleotide polymorphisms (SNPs) may make it easier to distinguish between mCNVs and nearby SNPs as the drivers of an association signal, and perhaps, make it possible to preliminarily screen candidate loci, or the entire genome, for the many mCNV-disease relationships that remain to be discovered.

  17. 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...

  18. FDI Inflows and Trade Imbalances: Evidence from Developing Asia

    Directory of Open Access Journals (Sweden)

    Thi Anh-Dao Tran

    2014-06-01

    Full Text Available The present paper examines the effects of FDI inflows on external imbalances in the developing and transition countries in Asia during the period 1991-2011. To this end, we extend the conventional trade balance model by reformulating the determinants of exports and imports. Our empirical findings suggest that current FDI inflows increase trade deficits, leading to negative consequences for the host country’s macroeconomic stability. However, the coefficient estimated becomes negative when we lag the FDI variable, implying that FDI inflows worsen the trade balance first and then improve it. We also find that a real depreciation tends to worsen trade balances because the usual Marshall-Lerner constraint is magnified by the import content of exports. Lastly, higher domestic absorption and larger productive capacity in the manufacturing sector improve the trade balance. Thelatter result supports the export-investment nexus, one of the most distinctive features of Asia.

  19. 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.

  20. 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.

  1. 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.

  2. Estimation of allele frequency and association mapping using next-generation sequencing data

    DEFF Research Database (Denmark)

    Kim, Su Yeon; Lohmueller, Kirk E; Albrechtsen, Anders;

    2011-01-01

    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., <15X). However, SNP calling and allele frequency estimati...... in such studies is associated with substantial statistical uncertainty because of varying coverage and high error rates....

  3. 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.

  4. Investigation of MGMT and DAPK1 methylation patterns in diffuse large B-cell lymphoma using allelic MSP-pyrosequencing

    DEFF Research Database (Denmark)

    Kristensen, Lasse Sommer; Treppendahl, Marianne Bach; Asmar, Fazila;

    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...

  5. 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.

  6. Identification of transcriptome SNPs for assessing allele-specific gene expression in a super-hybrid rice Xieyou9308.

    Directory of Open Access Journals (Sweden)

    Rongrong Zhai

    Full Text Available Hybridization, a common process in nature, can give rise to a vast reservoir of allelic variants. Combination of these allelic variants may result in novel patterns of gene action and is thought to contribute to heterosis. In this study, we analyzed genome-wide allele-specific gene expression (ASGE in the super-hybrid rice variety Xieyou9308 using RNA sequencing technology (RNA-Seq. We identified 9325 reliable single nucleotide polymorphisms (SNPs distributed throughout the genome. Nearly 68% of the identified polymorphisms were CT and GA SNPs between R9308 and Xieqingzao B, suggesting the existence of DNA methylation, a heritable epigenetic mark, in the parents and their F1 hybrid. Of 2793 identified transcripts with consistent allelic biases, only 480 (17% showed significant allelic biases during tillering and/or heading stages, implying that trans effects may mediate most transcriptional differences in hybrid offspring. Approximately 67% and 62% of the 480 transcripts showed R9308 allelic expression biases at tillering and heading stages, respectively. Transcripts with higher levels of gene expression in R9308 also exhibited R9308 allelic biases in the hybrid. In addition, 125 transcripts were identified with significant allelic expression biases at both stages, of which 74% showed R9308 allelic expression biases. R9308 alleles may tend to preserve their characteristic states of activity in the hybrid and may play important roles in hybrid vigor at both stages. The allelic expression of 355 transcripts was highly stage-specific, with divergent allelic expression patterns observed at different developmental stages. Many transcripts associated with stress resistance were differently regulated in the F1 hybrid. The results of this study may provide valuable insights into molecular mechanisms of heterosis.

  7. Effort-reward imbalance at work and the risk of antidepressant treatment in the Danish workforce

    DEFF Research Database (Denmark)

    Nielsen, Maj Britt D.; Madsen, Ida E. H.; Aust, Birgit;

    2016-01-01

    Background: Previous studies have shown that high effort-reward imbalance (ERI) at work is a risk factor for the onset of self-reported depressive symptoms. In this study, we examined whether ERI predicts risk of treatment with antidepressant medication in a representative sample of the Danish...... workforce. Methods: We linked survey data on ERI and covariates of 4541 participants from the Danish Work Environment Cohort Study 2000 with the Danish National Prescription Registry that includes all legally purchased prescription drugs at pharmacies in Denmark since 1995. Participants with a history...... of antidepressant treatment or with self-reported depressive symptoms at baseline were excluded. Using Cox proportional hazard analyses we examined the prospective association between ERI at baseline and incident antidepressant treatment while adjusting for potential confounders. Time of follow-up was 5 years...

  8. Reintroduction of a Homocysteine Level-Associated Allele into East Asians by Neanderthal Introgression.

    Science.gov (United States)

    Hu, Ya; Ding, Qiliang; He, Yungang; Xu, Shuhua; Jin, Li

    2015-12-01

    In this study, we present an analysis of Neanderthal introgression at the dipeptidase 1 gene, DPEP1. A Neanderthal origin for the putative introgressive haplotypes was demonstrated using an established three-step approach. This introgression was under positive natural selection, reached a frequency of >50%, and introduced a homocysteine level- and pigmentation-associated allele (rs460879-T) into East Asians. However, the same allele was also found in non-East Asians, but not from Neanderthal introgression. It is likely that rs460879-T was lost in East Asians and was reintroduced subsequently through Neanderthal introgression. Our findings suggest that Neanderthal introgression could reintroduce an important previously existing allele into populations where the allele had been lost. This study sheds new light on understanding the contribution of Neanderthal introgression to the adaptation of non-Africans.

  9. Filaggrin null alleles are not associated with hand eczema or contact allergy

    DEFF Research Database (Denmark)

    Jørkov, Anne Lerbæk; Bisgaard, H; Agner, T;

    2007-01-01

    association with hand eczema or contact allergy are unexplored. OBJECTIVES: To explore associations between the variant alleles, hand eczema, contact allergy and atopic dermatitis. METHODS: In total, 183 adult individuals participated in a clinical examination of the hands, patch testing and filaggrin...... genotyping. Children without any evidence of atopic dermatitis from the Copenhagen Prospective Study on Asthma in Childhood (COPSAC) study were used as controls. The chi(2) test was used for comparison of allele frequencies. RESULTS: The majority (73%) had hand eczema, 25% had contact allergy and 14% had...... a diagnosis of atopic dermatitis. The association between atopic dermatitis and the filaggrin variant alleles was confirmed (odds ratio 3.5, P = 0.015). Allele frequencies in individuals with hand eczema or contact allergy were not statistically significantly increased. CONCLUSION: There is no association...

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

    Directory of Open Access Journals (Sweden)

    G. Schuster

    2009-11-01

    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.

    Currently, there is a lack of high accuracy measurements of TOA radiation imbalance. Available estimations indicate that TOA net radiative heating to the climate system is about 0.85 W/m2. 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

  11. Subcutaneous vaccination with Porphyromonas gingivalis ameliorates periodontitis by modulating Th17/Treg imbalance in a murine model.

    Science.gov (United States)

    Wang, Linyuan; Guan, Ning; Jin, Ying; Lin, Xiaoping; Gao, Hong

    2015-03-01

    To date, Porphyromonas gingivalis (P. gingivalis) vaccination has been studied only in animals, and no effective prophylactic human periodontal vaccine has been developed, with the reason for the failure of prophylactic human periodontal vaccines unknown. T helper 17 cell (Th17)/regulatory T (Treg) cell responses play an important role in the development of periodontitis, and a Th17/Treg imbalance causes the pathogenesis of periodontitis. However, whether vaccination with P. gingivalis can prevent periodontitis through modulation of the Th17/Treg imbalance remains unknown. In this study, mice were subcutaneously vaccinated with formalin-killed P. gingivalis and then orally challenged with P. gingivalis. The vaccination protected the mice from alveolar bone resorption and inflammation. These protective effects might be ascribed to downregulation of Th17 cells and interleukin (IL)-17A production, upregulation of Treg and receptor activator of nuclear factor-kappa B ligand (RANKL)(+)CD4(+)T cells, and IL-10 and transforming growth factor-β1 production, and inhibition of lymphocyte proliferation. Our findings may provide a direction for the development of a vaccine or therapy against periodontitis by alteration of the Th17/Treg imbalance.

  12. 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。

  13. TRPV6 alleles do not influence prostate cancer progression

    Directory of Open Access Journals (Sweden)

    Flockerzi Veit

    2009-10-01

    Full Text Available Abstract Background The transient receptor potential, subfamily V, member 6 (TRPV6 is a Ca2+ selective cation channel. Several studies have shown that TRPV6 transcripts are expressed in locally advanced prostatic adenocarcinoma, metastatic and androgen-insensitive prostatic lesions but are undetectable in healthy prostate tissue and benign prostatic hyperplasia. Two allelic variants of the human trpv6 gene have been identified which are transcribed into two independent mRNAs, TRPV6a and TRPV6b. We now asked, whether the trpv6a allele is correlated with the onset of prostate cancer, with the Gleason score and the tumour stage. Methods Genomic DNA of prostate cancer patients and control individuals was isolated from resections of prostatic adenocarcinomas and salivary fluid respectively. Genotyping of SNPs of the TRPV6 gene was performed by restriction length polymorphism or by sequencing analysis. RNA used for RT-PCR was isolated from prostate tissue. Data sets were analyzed by Chi-Square test. Results We first characterized in detail the five polymorphisms present in the protein coding exons of the trpv6 gene and show that these polymorphisms are coupled and are underlying the TRPV6a and the TRPV6b variants. Next we analysed the frequencies of the two TRPV6 alleles using genomic DNA from saliva samples of 169 healthy individuals. The homozygous TRPV6b genotype predominated with 86%, whereas no homozygous TRPV6a carriers could be identified. The International HapMap Project identified a similar frequency for an Utah based population whereas in an African population the a-genotype prevailed. The incidence of prostate cancer is several times higher in African populations than in non-African and we then investigated the TRPV6a/b frequencies in 141 samples of prostatic adenocarcinoma. The TRPV6b allele was found in 87% of the samples without correlation with Gleason score and tumour stage. Conclusion Our results show that the frequencies of trpv6

  14. 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.

  15. A comparison of imbalance settlement designs and results of Germany and the Netherlands

    NARCIS (Netherlands)

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

    2010-01-01

    Imbalance settlement is a vital part of the balancing market, i.e. the institutional arrangement that establishes market-based balance management in liberalized electricity markets. We investigate the impact of the imbalance settlement design on the behaviour of Balance Responsible Parties and there

  16. 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

  17. Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, A.D.; Ousager, L.B.;

    2012-01-01

    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817...... can be the cause of allelic dropout, creating unforeseen errors in genotyping. Our finding emphasizes the need for careful quality control in all molecular genetic studies. © Copyright 2012, Mary Ann Liebert, Inc....

  18. Accurate quantitation of allele-specific expression patterns by analysis of DNA melting

    OpenAIRE

    Jeong, Sangkyun; Hahn, Yoonsoo; Rong, Qi; Pfeifer, Karl

    2007-01-01

    Epigenetic and genetic mechanisms can result in large differences in expression levels of the two alleles in a diploid organism. Furthermore, these differences may be critical to phenotypic variations among individuals. In this study, we present a novel procedure and algorithm to precisely and accurately quantitate the relative expression of each allele. This method uses the differential melting properties of DNAs differing at even a single base pair. By referring to the melting characteristi...

  19. 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...

  20. 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

  1. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.

    Science.gov (United States)

    Wu, D Y; Ugozzoli, L; Pal, B K; Wallace, R B

    1989-04-01

    A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell beta-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specific for the sickle cell allele and one specific for the normal allele, together with another primer complementary to both alleles were used in the polymerase chain reaction with genomic DNA templates. The allele-specific primers differed from each other in their terminal 3' nucleotide. Under the proper annealing temperature and polymerase chain reaction conditions, these primers only directed amplification on their complementary allele. In a single blind study of DNA samples from 12 individuals, this method correctly and unambiguously allowed for the determination of the genotypes with no false negatives or positives. If ASPCR is able to discriminate all allelic variation (both transition and transversion mutations), this method has the potential to be a powerful approach for genetic disease diagnosis, carrier screening, HLA typing, human gene mapping, forensics, and paternity testing.

  2. Identification of a rare off-ladder allele of the D13S325 locus during paternity testing.

    Science.gov (United States)

    Chen, Wenjing; Cheng, Jianding; Tong, Dayue; Liu, Sujuan; Zhang, Yinming; Sun, Hongyu

    2014-01-01

    This study demonstrates an unusual rare allele of D13S325 that was falsely categorized as an allele of D12S391 under the STRtyper™-10F/G system. The parentage cases with these rare alleles were analyzed using the Sinofiler™ system and singleplex amplification system, and the alleles of D13S325 extracted from the electrophoresis gel were sequenced. 5 Cases with the rare alleles misread as allele 20 of D12S391 were identified in total 2618 cases (including 3200 unrelated parents). This rare allele was designated as allele 5.1 of D13S325 based on its DNA sequence. Its frequency in the Chinese population was 1.6×10(-3). Because the rare allele 5.1 of D13S325 locus tends to be incorrectly labeled in the STRtyper™-10F/G system, particular attention should be paid when the system is used in paternity testing, personal identification, and DNA database comparisons.

  3. Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

    Directory of Open Access Journals (Sweden)

    Docherty Zoe

    2010-04-01

    Full Text Available Abstract Background Several studies have demonstrated that array comparative genomic hybridisation (CGH for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyotyping by G-banded chromosome analysis. The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in place of karyotyping for genome imbalance, and to report on the results of the implementation of this approach. Results Following a validation period, an oligoarray platform was chosen. In order to minimise costs and increase efficiency, a patient/patient hybridisation strategy was used, and analysis criteria were set to optimise detection of pathogenic imbalance. A customised database application with direct links to a number of online resources was developed to allow efficient management and tracking of patient samples and facilitate interpretation of results. Following introduction into our routine diagnostic service for patients with suspected genome imbalance, array CGH as a follow-on test for patients with normal karyotypes (n = 1245 and as a first-line test (n = 1169 gave imbalance detection rates of 26% and 22% respectively (excluding common, benign variants. At least 89% of the abnormalities detected by first line testing would not have been detected by standard karyotype analysis. The average reporting time for first-line tests was 25 days from receipt of sample. Conclusions Array CGH can be used in a diagnostic service setting in place of G-banded chromosome analysis, providing a more comprehensive and objective test for patients with suspected genome imbalance. The increase in consumable costs can be minimised by employing appropriate hybridisation strategies; the use of robotics and a customised database application to process multiple samples reduces staffing costs and streamlines analysis, interpretation and reporting of results. Array CGH provides a

  4. A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays

    Directory of Open Access Journals (Sweden)

    Torring Niels

    2007-11-01

    Full Text Available Abstract Background Affymetrix SNP arrays can interrogate thousands of SNPs at the same time. This allows us to look at the genomic content of cancer cells and to investigate the underlying events leading to cancer. Genomic copy-numbers are today routinely derived from SNP array data, but the proposed algorithms for this task most often disregard the genotype information available from germline cells in paired germline-tumour samples. Including this information may deepen our understanding of the "true" biological situation e.g. by enabling analysis of allele specific copy-numbers. Here we rely on matched germline-tumour samples and have developed a Hidden Markov Model (HMM to estimate allelic copy-number changes in tumour cells. Further with this approach we are able to estimate the proportion of normal cells in the tumour (mixture proportion. Results We show that our method is able to recover the underlying copy-number changes in simulated data sets with high accuracy (above 97.71%. Moreover, although the known copy-numbers could be well recovered in simulated cancer samples with more than 70% cancer cells (and less than 30% normal cells, we demonstrate that including the mixture proportion in the HMM increases the accuracy of the method. Finally, the method is tested on HapMap samples and on bladder and prostate cancer samples. Conclusion The HMM method developed here uses the genotype calls of germline DNA and the allelic SNP intensities from the tumour DNA to estimate allelic copy-numbers (including changes in the tumour. It differentiates between different events like uniparental disomy and allelic imbalances. Moreover, the HMM can estimate the mixture proportion, and thus inform about the purity of the tumour sample.

  5. Identification of common bean alleles resistant to anthracnose using RAPD

    Directory of Open Access Journals (Sweden)

    Ana L.M. Castanheira

    1999-12-01

    Full Text Available RAPD markers were identified close to common bean alleles responsible for resistance to the fungus Colletotrichum lindemuthianum and may be useful in selecting plants resistant to this pathogen. DNA from F2 plants of the crosses Carioca 300V x P45, Carioca 300V x Ouro and P24 x Ouro was amplified by RAPD. Line P45 has the Co.4 allele for resistance, and the Ouro cultivar has the Co.5 allele. The primer OPC08 amplified a DNA fragment of about 1059 bp linked to the Co.4 allele. The recombination frequency was 0.133 (SE = 0.039; 95% CI = 0.056-0.211. Using the primer OPF10 a DNA fragment of about 912 bp was amplified and found to be associated with the Co.5 allele. The recombination frequency was 0.115 (SE = 0.038; 95% CI = 0.041-0.189. A second marker (1122 pb amplified by the OPR03 primer was identified in the population P24 x Ouro. The recombination frequency for this marker was 0.363 (SE = 0.081; 95% CI = 0.205-0.522. Both these markers flanked the Co.5 allele. The markers identified in this study may be useful in identifying lines with the Co.4 and Co.5 alleles.Marcadores RAPD foram identificados próximos de alelos do feijão responsáveis pela resistência ao Colletotrichum lindemuthianum, visando auxiliar na seleção de plantas resistentes ao patógeno. Empregou-se o método dos bulks segregantes de DNA extraídos de plantas F2 dos seguintes cruzamentos: Carioca 300V x P45, Carioca 300V x Ouro e P24 x Ouro. A linhagem P45 é portadora do alelo Co.4 de resistência e o cultivar Ouro é portador do alelo Co.5, os quais foram marcados. Procedeu-se à reação RAPD dos bulks e foi identificado o iniciador OPC08 que amplificou um fragmento de DNA com cerca de 1059 pb, ligado ao alelo Co.4. A freqüência de recombinação foi de 0,133 (erro padrão 0,039 e o intervalo de confiança foi 0,056 e 0,211, com 95% de probabilidade. Em relação ao alelo Co.5 foi identificado um fragmento de DNA amplificado pelo iniciador OPF10 com cerca de 912 pb, na

  6. Effort-Reward Imbalance and Mental Health Problems in 1074 German Teachers, Compared with Those in the General Population.

    Science.gov (United States)

    Hinz, Andreas; Zenger, Markus; Brähler, Elmar; Spitzer, Silvia; Scheuch, Klaus; Seibt, Reingard

    2016-08-01

    High degrees of premature retirement among teachers warrant investigating the occupational burden and the mental health status of this profession. A sample of 1074 German teachers participated in this study. Two samples of the general population (N = 824 and N = 792) were used as comparison groups. Work distress was assessed with the Effort-Reward-Imbalance questionnaire, and mental health problems were measured with the General Health Questionnaire (GHQ-12). Teachers reported more effort-reward imbalance (M = 0.64) compared with the general population (M = 0.57), and they perceived more mental health problems (GHQ: M = 12.1) than the comparison group (M = 9.5). School type was not associated with work stress and mental health. Teachers with leading functions perceived high degrees of effort and reward, resulting in a moderate effort-reward ratio and no heightened mental health problems. Teachers working full time reported more effort than teachers working part time, but the reward mean values of both groups were similar. This results in a somewhat unfavourable effort-reward ratio of teachers working full time. Moreover, teachers working full time reported more mental health problems. The results support the appropriateness of the effort-reward conception, applied to the profession of teachers. The higher degree of effort-reward imbalance and the level of mental health problems warrant preventive measures. Copyright © 2014 John Wiley & Sons, Ltd.

  7. 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

  8. 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.

  9. 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.

  10. HLA DRB1 alleles and hepatitis C virus infection in chronic kidney disease patients.

    Science.gov (United States)

    Shaheen, Noha Mohamed Hosni; Soliman, Amin Roshdy; El-Khashab, Sahier Omar; Hanna, Mariam Onsy Farag

    2013-01-01

    T cell responses against HCV are regulated by the host's human leukocyte antigen (HLA) alleles, which thus are ideal candidate genes to investigate for associations with HCV susceptibility. We aimed to identify associations of HLA DRB1* alleles with HCV infection in a high risk of exposure population, chronic kidney disease (CKD) patients on dialysis, and to study any possible relationships with allele zygosity. The study population comprised 110 HCV infected and 143 HCV uninfected CKD patients undergoing regular hemodialysis. HLA DRB1* alleles were determined using polymerase chain reaction followed by hybridization with sequence-specific oligonucleotide probes. We found a significant negative association between HLA DRB1*03 and HCV infection, but the association did not retain significance after adjustment for multiple comparisons. HLA DRB1*03 was found at reduced frequency in HCV antibody positive compared to HCV antibody negative CKD patients on regular dialysis (corrected p was not significant). No significant association between HCV infection and HLA DRB1* zygosity was observed. Our results suggest that there is minimal evidence for a significant role of a particular HLA DRB1* allele or allele zygosity in the susceptibility or protection to HCV in high-risk hemodialysis patients with similar exposure to infection.

  11. 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

  12. 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.

  13. Allelic genealogies in sporophytic self-incompatibility systems in plants

    DEFF Research Database (Denmark)

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

    1998-01-01

    Expectations for the time scale and structure of allelic genealogies in finite populations are formed under three models of sporophytic self-incompatibility. The models differ in the dominance interactions among the alleles that determine the self-incompatibility phenotype: In the SSIcod model...... action, and the most recessive extant allele is likely to be the most recent common ancestor. Despite these asymmetries, the expected shape of the allele genealogies does not deviate markedly from the shape of a neutral gene genealogy. The application of the results to sequence surveys of alleles...

  14. Oxidant-antioxidant imbalance in horses infected with equine infectious anaemia virus.

    Science.gov (United States)

    Bolfă, Pompei Florin; Leroux, Caroline; Pintea, Adela; Andrei, Sanda; Cătoi, Cornel; Taulescu, Marian; Tăbăran, Flaviu; Spînu, Marina

    2012-06-01

    This study assesses the impact of equine infectious anaemia virus (EIAV) infection on the oxidant/antioxidant equilibrium of horses. Blood samples from 96 Romanian horses aged 1-25 years, were divided into different groups according to their EIAV-infection status, age, and time post-seroconversion. The effect of infection on oxidative stress was estimated by measuring enzymatic antioxidants (superoxide dismutase [SOD], glutathione peroxidase [GPx] and catalase), non-enzymatic antioxidants (uric acid and carotenoids), and lipid peroxidation (malondialdehyde [MDA]). Infection modified the oxidant/antioxidant equilibrium in the horses, influencing GPx and uric acid levels (Pstress imbalance, exhibiting a significant influence on both SOD and MDA concentrations in the blood (Pstress. Recently infected horses (horses >5 years old, represented the most vulnerable category in terms of oxidative stress, followed by recently infected animals stress in horses.

  15. 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.

  16. Antioxidant effect of simvastatin throught oxidative imbalance caused by lisdexamfetamine dimesylate

    Directory of Open Access Journals (Sweden)

    Guilherme A. Eger

    2016-03-01

    Full Text Available The present study aims to directly investigate the behavioral and antioxidant effects of simvastatin in a model of bipolar mania induced by lisdexamfetamine dimesylate. Wistar rats were treated for 30 days with simvastatin. On the 24th day after the start of treatment, each rat was administered lisdexamfetamine dimesylate for 7 days. The results suggest that simvastatin combined with lisdexamfetamine dimesylate induced a significant increased locomotion and lisdexamfetamine dimesylate administration causes an oxidative imbalance determined by an increment in lipid peroxidation, protein oxidation and alterations in the activities of antioxidant enzymes in brain areas; moreover, in the presence of simvastatin, most of these effects were prevented. These findings contribute to a better understanding of the critical roles of lisdexamfetamine dimesylate in the treatment of neuropsychiatric disorders, associated with increased oxidative stress and changes in antioxidant enzymatic defense. In view of the central role played by lisdexamfetamine dimesylate, the established antioxidant effect of simvastatin therapy is of major interest.

  17. Pair formation in Fermi systems with population imbalance in one- and two-dimensional optical lattices

    Science.gov (United States)

    Batrouni, George

    2011-03-01

    I will discuss pairing in fermionic systems in one- and two-dimensional optical lattices with population imbalance. This will be done in the context of the attractive fermionic Hubbard model using the Stochastic Green Function algorithm in d=1 while for d=2 we use Determinant Quantum Monte Carlo. This is the first exact QMC study examining the effects of finite temperature which is very important in experiments on ultra-cold atoms. Our results show that, in the ground state, the dominant pairing mechanism is at nonzero center of mass momentum, i.e. FFLO. I will then discuss the effect of finite temperature in the uniform and confined systems and present finite temperature phase diagrams. The numerical results will be compared with experiments. With M. J. Wolak (CQT, National University of Singapore) and V. G. Rousseau (Department of Physics and Astronomy, Louisiana State University).

  18. Mechanical overloading causes mitochondrial superoxide and SOD2 imbalance in chondrocytes resulting in cartilage degeneration.

    Science.gov (United States)

    Koike, Masato; Nojiri, Hidetoshi; Ozawa, Yusuke; Watanabe, Kenji; Muramatsu, Yuta; Kaneko, Haruka; Morikawa, Daichi; Kobayashi, Keiji; Saita, Yoshitomo; Sasho, Takahisa; Shirasawa, Takuji; Yokote, Koutaro; Kaneko, Kazuo; Shimizu, Takahiko

    2015-06-25

    Mechanical stress and aging are major risk factors of cartilage degeneration. Human studies have previously reported that oxidative damage increased, while SOD2 protein was reciprocally downregulated in osteoarthritic degenerated cartilage. However, it remains unclear whether mitochondrial superoxide imbalance in chondrocytes causes cartilage degeneration. We herein demonstrate that mechanical loading promoted mitochondrial superoxide generation and selective Sod2 downregulation in chondrocytes in vivo and that mitochondrial superoxide inducer also downregulated Sod2 expression in chondrocytes in vitro. A genetically manipulated model revealed that Sod2 deficiency in chondrocytes also resulted in mitochondrial superoxide overproduction and dysfunction, thus leading to cartilage degeneration. Intra-articular injection of a permeable antioxidant effectively suppressed the mechanical loading-induced mitochondrial superoxide generation and cartilage degeneration in mice. Our findings demonstrate that mitochondrial superoxide plays a pivotal role in the development and progression of osteoarthritis, and the mitochondrial superoxide balance may therefore be a promising target for the treatment of cartilage degeneration.

  19. Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome.

    Science.gov (United States)

    Chabosseau, Pauline; Buhagiar-Labarchède, Géraldine; Onclercq-Delic, Rosine; Lambert, Sarah; Debatisse, Michelle; Brison, Olivier; Amor-Guéret, Mounira

    2011-06-28

    Defects in DNA replication are associated with genetic instability and cancer development, as illustrated in Bloom syndrome. Features of this syndrome include a slowdown in replication speed, defective fork reactivation and high rates of sister chromatid exchange, with a general predisposition to cancer. Bloom syndrome is caused by mutations in the BLM gene encoding a RecQ helicase. Here we report that BLM deficiency is associated with a strong cytidine deaminase defect, leading to pyrimidine pool disequilibrium. In BLM-deficient cells, pyrimidine pool normalization leads to reduction of sister chromatid exchange frequency and is sufficient for full restoration of replication fork velocity but not the fork restart defect, thus identifying the part of the Bloom syndrome phenotype because of pyrimidine pool imbalance. This study provides new insights into the molecular basis of control of replication speed and the genetic instability associated with Bloom syndrome. Nucleotide pool disequilibrium could be a general phenomenon in a large spectrum of precancerous and cancer cells.

  20. 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.

  1. 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.

  2. 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

  3. Common Kibra alleles are associated with human memory performance.

    Science.gov (United States)

    Papassotiropoulos, Andreas; Stephan, Dietrich A; Huentelman, Matthew J; Hoerndli, Frederic J; Craig, David W; Pearson, John V; Huynh, Kim-Dung; Brunner, Fabienne; Corneveaux, Jason; Osborne, David; Wollmer, M Axel; Aerni, Amanda; Coluccia, Daniel; Hänggi, Jürgen; Mondadori, Christian R A; Buchmann, Andreas; Reiman, Eric M; Caselli, Richard J; Henke, Katharina; de Quervain, Dominique J-F

    2006-10-20

    Human memory is a polygenic trait. We performed a genome-wide screen to identify memory-related gene variants. A genomic locus encoding the brain protein KIBRA was significantly associated with memory performance in three independent, cognitively normal cohorts from Switzerland and the United States. Gene expression studies showed that KIBRA was expressed in memory-related brain structures. Functional magnetic resonance imaging detected KIBRA allele-dependent differences in hippocampal activations during memory retrieval. Evidence from these experiments suggests a role for KIBRA in human memory.

  4. Segregation of microsatellite alleles and residual heterogosity at single loci in homozygous androgenetic common carp (Cyprino carpio L.)

    NARCIS (Netherlands)

    Tanck, M.W.T.; Palstra, A.P.; Weerd, van de M.; Leffering, C.P.; Poel, van der J.J.; Bovenhuis, H.; Komen, J.

    2001-01-01

    Thirty-three androgenetic progeny groups of common carp were analysed using 11 microsatellite markers to (i) verify the homozygous status of the 566 androgenetic individuals, (ii) analyse the microsatellite allele segregation, and (iii) study the possible association of microsatellite alleles with p

  5. 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

  6. 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

  7. 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.

  8. Pathophysiology of autism spectrum disorders: revisiting gastrointestinal involvement and immune imbalance.

    Science.gov (United States)

    Samsam, Mohtashem; Ahangari, Raheleh; Naser, Saleh A

    2014-08-07

    Autism spectrum disorders (ASD) comprise a group of neurodevelopmental abnormalities that begin in early childhood and are characterized by impairment of social communication and behavioral problems including restricted interests and repetitive behaviors. Several genes have been implicated in the pathogenesis of ASD, most of them are involved in neuronal synaptogenesis. A number of environmental factors and associated conditions such as gastrointestinal (GI) abnormalities and immune imbalance have been linked to the pathophysiology of ASD. According to the March 2012 report released by United States Centers for Disease Control and Prevention, the prevalence of ASD has sharply increased during the recent years and one out of 88 children suffers now from ASD symptoms. Although there is a strong genetic base for the disease, several associated factors could have a direct link to the pathogenesis of ASD or act as modifiers of the genes thus aggravating the initial problem. Many children suffering from ASD have GI problems such as abdominal pain, chronic diarrhea, constipation, vomiting, gastroesophageal reflux, and intestinal infections. A number of studies focusing on the intestinal mucosa, its permeability, abnormal gut development, leaky gut, and other GI problem raised many questions but studies were somehow inconclusive and an expert panel of American Academy of Pediatrics has strongly recommended further investigation in these areas. GI tract has a direct connection with the immune system and an imbalanced immune response is usually seen in ASD children. Maternal infection or autoimmune diseases have been suspected. Activation of the immune system during early development may have deleterious effect on various organs including the nervous system. In this review we revisited briefly the GI and immune system abnormalities and neuropeptide imbalance and their role in the pathophysiology of ASD and discussed some future research directions.

  9. 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.

  10. 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.

  11. Diversity Outbred Mice at 21: Maintaining Allelic Variation in the Face of Selection

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    Elissa J. Chesler

    2016-12-01

    Full Text Available Multi-parent populations (MPPs capture and maintain the genetic diversity from multiple inbred founder strains to provide a resource for high-resolution genetic mapping through the accumulation of recombination events over many generations. Breeding designs that maintain a large effective population size with randomized assignment of breeders at each generation can minimize the impact of selection, inbreeding, and genetic drift on allele frequencies. Small deviations from expected allele frequencies will have little effect on the power and precision of genetic analysis, but a major distortion could result in reduced power and loss of important functional alleles. We detected strong transmission ratio distortion in the Diversity Outbred (DO mouse population on chromosome 2, caused by meiotic drive favoring transmission of the WSB/EiJ allele at the R2d2 locus. The distorted region harbors thousands of polymorphisms derived from the seven non-WSB founder strains and many of these would be lost if the sweep was allowed to continue. To ensure the utility of the DO population to study genetic variation on chromosome 2, we performed an artificial selection against WSB/EiJ alleles at the R2d2 locus. Here, we report that we have purged the WSB/EiJ allele from the drive locus while preserving WSB/EiJ alleles in the flanking regions. We observed minimal disruption to allele frequencies across the rest of the autosomal genome. However, there was a shift in haplotype frequencies of the mitochondrial genome and an increase in the rate of an unusual sex chromosome aneuploidy. The DO population has been restored to genome-wide utility for genetic analysis, but our experience underscores that vigilant monitoring of similar genetic resource populations is needed to ensure their long-term utility.

  12. Activation of the Arabidopsis thaliana immune system by combinations of common ACD6 alleles.

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    Marco Todesco

    2014-07-01

    Full Text Available A fundamental question in biology is how multicellular organisms distinguish self and non-self. The ability to make this distinction allows animals and plants to detect and respond to pathogens without triggering immune reactions directed against their own cells. In plants, inappropriate self-recognition results in the autonomous activation of the immune system, causing affected individuals to grow less well. These plants also suffer from spontaneous cell death, but are at the same time more resistant to pathogens. Known causes for such autonomous activation of the immune system are hyperactive alleles of immune regulators, or epistatic interactions between immune regulators and unlinked genes. We have discovered a third class, in which the Arabidopsis thaliana immune system is activated by interactions between natural alleles at a single locus, ACCELERATED CELL DEATH 6 (ACD6. There are two main types of these interacting alleles, one of which has evolved recently by partial resurrection of a pseudogene, and each type includes multiple functional variants. Most previously studies hybrid necrosis cases involve rare alleles found in geographically unrelated populations. These two types of ACD6 alleles instead occur at low frequency throughout the range of the species, and have risen to high frequency in the Northeast of Spain, suggesting a role in local adaptation. In addition, such hybrids occur in these populations in the wild. The extensive functional variation among ACD6 alleles points to a central role of this locus in fine-tuning pathogen defenses in natural populations.

  13. 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.

  14. Identification of the new HLA-DRB1{sup *}0812 allele detected by sequencing based typing

    Energy Technology Data Exchange (ETDEWEB)

    Versluis, L.F.; Zwan, A.W. van der; Tilanus, M.G.J. [Univ. Hospital Utrecht (Netherlands); Savelkoul, P.H.M.; Berg-Loonen, E.M. van den [Univ. Hospital Maastricht (Netherlands)] [and others

    1996-12-31

    HLA-DRB typing by polymerase chain reaction-sequence specific priming (PCR-SSP) and sequencing based typing (SBT) was studied within the framework of the Antigen and Haplotype Society 11 and the Sequencing Based Typing Component of the Twelfth International HLA workshop. Sequencing was performed as described by McGinnis and co-workers in 1995 on coded samples, including most DR2 subtypes, resulting in high resolution HLA-DR typing. Sequences were compared with a database containing 107 DRB1, four DRB3, and five DRB5 alleles in a similar way as described for HLA-DPB. One sample showed a new DR8 sequence, indicating the presence of a new allele. This individual (4390) is of Indonesian origin. The specific amplification of the DR8 allele and subsequent sequencing resulted in a sequence which did not match the database and new polymorphism was identified. The complementary strand was sequenced and confirmed the presence of a new DRB1 allele. Cloning and subsequent sequencing of the polymerase chain reaction fragment resulted in confirmation of the direct sequence data. Later this variant was officially named DRB1{sup *}0812. The complete nucleotide sequence of exon 2 of this new allele is shown. This allele differs from DRB1{sup *}0810 by one nucleotide at codon 85, resulting in an alanine (GTT), whereas DRB1{sup *}0810 carries a valine (GCT). 5 refs., 1 fig.

  15. Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development.

    Directory of Open Access Journals (Sweden)

    Sofía Rodríguez

    Full Text Available Today, there are at least a dozen different genetic disorders caused by mutations within the LMNA gene, and collectively, they are named laminopathies. Interestingly, the same mutation can cause phenotypes with different severities or even different disorders and might, in some cases, be asymptomatic. We hypothesized that one possible contributing mechanism for this phenotypic variability could be the existence of high and low expressing alleles in the LMNA locus. To investigate this hypothesis, we developed an allele-specific absolute quantification method for lamin A and lamin C transcripts using the polymorphic rs4641(C/TLMNA coding SNP. The contribution of each allele to the total transcript level was investigated in nine informative human primary dermal fibroblast cultures from Hutchinson-Gilford progeria syndrome (HGPS and unaffected controls. Our results show differential expression of the two alleles. The C allele is more frequently expressed and accounts for ∼70% of the lamin A and lamin C transcripts. Analysis of samples from six patients with Hutchinson-Gilford progeria syndrome showed that the c.1824C>T, p.G608G mutation is located in both the C and the T allele, which might account for the variability in phenotype seen among HGPS patients. Our method should be useful for further studies of human samples with mutations in the LMNA gene and to increase the understanding of the link between genotype and phenotype in laminopathies.

  16. 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

  17. Sources and implications of NADH/NAD+ redox imbalance in diabetes and its complications

    Directory of Open Access Journals (Sweden)

    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

  18. Density imbalances and free energy of lipid transfer in supported lipid bilayers

    Science.gov (United States)

    Xing, Chenyue; Faller, Roland

    2009-11-01

    Supported lipid bilayers are an abundant research platform for understanding the behavior of real cell membranes as they allow for additional mechanical stability and at the same time have a fundamental structure approximating cell membranes. However, in computer simulations these systems have been studied only rarely up to now. An important property, which cannot be easily determined by molecular dynamics or experiments, is the unsymmetrical density profiles of bilayer leaflets (density imbalance) inflicted on the membrane by the support. This imbalance in the leaflets composition has consequences for membrane structure and phase behavior, and therefore we need to understand it in detail. The free energy can be used to determine the equilibrium structure of a given system. We employ an umbrella sampling approach to obtain the free energy of a lipid crossing the membrane (i.e., lipid flip-flop) as a function of bilayer composition and hence the equilibrium composition of the supported bilayers. In this paper, we use a variant of the coarse-grained Martini model. The results of the free energy calculation lead to a 5% higher density in the proximal leaflet. Recent data obtained by large scale modeling using a water free model suggested that the proximal leaflet had 3.2% more lipids than the distal leaflet [Hoopes et al., J. Chem. Phys. 129, 175102 (2008)]. Our findings are in line with these results. We compare results of the free energy of transport obtained by pulling the lipid across the membrane in different ways. There are small quantitative differences, but the overall picture is consistent. We additionally characterize the intermediate states, which determine the barrier height and therefore the rate of translocation. Calculations on unsupported bilayers are used to validate the approach and to determine the barrier to flip-flop in a free membrane.

  19. Hyperbaric oxygen therapy of angiopathic changes in patients with inherited gene imbalance

    Directory of Open Access Journals (Sweden)

    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.

  20. Mangiferin Attenuates Th1/Th2 Cytokine Imbalance in an Ovalbumin-Induced Asthmatic Mouse Model

    Science.gov (United States)

    Hou, Guang-Han; Du, Jun; Huang, Xin; Lu, Yi; Keller, Evan T.; Zhang, Jian; Deng, Jia-Gang

    2014-01-01

    Mangiferin is a major bioactive ingredient in Mangifera indica Linn. (Anacardiaceae) leaves. Aqueous extract of such leaves have been used as an indigenous remedy for respiratory diseases like asthma and coughing in traditional Chinese medicine. However, underlying molecular mechanisms of mangiferin on anti-asthma remain unclear. In our present study, we investigated the anti-asthmatic effect of mangiferin on Th1/Th2 cytokine profiles and explored its underlying immunoregulatory mechanism in mouse model of allergic asthma. Mangiferin significantly reduced the total inflammatory cell counts and eosinophil infiltration, decreased the production of ovalbumin-specific IgE in serum and PGD2 in BALF. The antibody array analysis showed that mangiferin down-regulated the levels of one group of cytokines/chemokines including Th2-related IL-4, IL-5, IL-13, and others IL-3, IL-9, IL-17, RANTES, TNF-α, but simultaneously up-regulated Th1-related IFN-γ, IL-2 and IL-10 and IL-12 expression in serum. Thus it attenuates the imbalance of Th1/Th2 cells ratio by diminishing the abnormal mRNA levels of Th1 cytokines (IFN-γ and IL-12) and Th2 cytokines (IL-4, IL-5 and IL-13). Finally, mangiferin substantially inhibited the activation and expression of STAT-6 and GATA-3 in excised lung tissues. Our results suggest that mangiferin can exert anti-asthmatic effect. The underlying mechanism may attribute to the modulation of Th1/Th2 cytokine imbalance via inhibiting the STAT6 signaling pathway. PMID:24955743

  1. Mangiferin attenuates TH1/TH2 cytokine imbalance in an ovalbumin-induced asthmatic mouse model.

    Directory of Open Access Journals (Sweden)

    Hong-Wei Guo

    Full Text Available Mangiferin is a major bioactive ingredient in Mangifera indica Linn. (Anacardiaceae leaves. Aqueous extract of such leaves have been used as an indigenous remedy for respiratory diseases like asthma and coughing in traditional Chinese medicine. However, underlying molecular mechanisms of mangiferin on anti-asthma remain unclear. In our present study, we investigated the anti-asthmatic effect of mangiferin on Th1/Th2 cytokine profiles and explored its underlying immunoregulatory mechanism in mouse model of allergic asthma. Mangiferin significantly reduced the total inflammatory cell counts and eosinophil infiltration, decreased the production of ovalbumin-specific IgE in serum and PGD2 in BALF. The antibody array analysis showed that mangiferin down-regulated the levels of one group of cytokines/chemokines including Th2-related IL-4, IL-5, IL-13, and others IL-3, IL-9, IL-17, RANTES, TNF-α, but simultaneously up-regulated Th1-related IFN-γ, IL-2 and IL-10 and IL-12 expression in serum. Thus it attenuates the imbalance of Th1/Th2 cells ratio by diminishing the abnormal mRNA levels of Th1 cytokines (IFN-γ and IL-12 and Th2 cytokines (IL-4, IL-5 and IL-13. Finally, mangiferin substantially inhibited the activation and expression of STAT-6 and GATA-3 in excised lung tissues. Our results suggest that mangiferin can exert anti-asthmatic effect. The underlying mechanism may attribute to the modulation of Th1/Th2 cytokine imbalance via inhibiting the STAT6 signaling pathway.

  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 Between Th17 Cells and Regulatory T Cells During Monophasic Experimental Autoimmune Uveitis.

    Science.gov (United States)

    Zhang, Lian; Wan, Fangzhu; Song, Jike; Tang, Kai; Zheng, Fengming; Guo, Junguo; Guo, Dadong; Bi, Hongsheng

    2016-02-01

    The aim of this study is to explore the dynamic changes in IL-17-expressing T cells (Th17)/Treg expression in monophasic experimental autoimmune uveitis (mEAU). mEAU was induced in Lewis rats with IRBP1177-1191 peptide and evaluated clinically and pathologically on days 9, 13, 18, 23, 28, 35, and 48. Lymphocytes isolated from inguinal lymph nodes were subjected to flow cytometry to analyze the frequency of Th17/Treg cells. The levels of cytokines (IL-17, IL-6, IL-10, transforming growth factor (TGF)-β) in serum were detected by enzyme-linked immunosorbent assay (ELISA). Real-time quantitative PCR (RT-PCR) was used for measuring the levels of IL-17, IL-6, TGF-β, and Foxp3. Clinical and histopathologic assessment showed that mEAU began on day 9, peaked on day 13, and decreased to normal on day 18. The frequency of Th17 cells increased obviously on day 9, peaking on day 13, while the frequency of Treg cells increased on day 13, peaked on day 18, and remained at a high level until day 48. In the serum, the levels of IL-17 and IL-6 peaked on day 9 and gradually decreased to normal on day 28. The level of TGF-β increased on day 9, peaked on day 13, and decreased to normal on day 35. Meanwhile, the level of IL-10 increased on day 9 and stayed at a high level until day 48. Additionally, the above results were further confirmed by RT-PCR. The imbalance between Th17 and Treg cells contributes to the onset and progression of mEAU, and a compartmental imbalance of Treg over Th17 exists in the recovery phase of mEAU.

  4. Detection of bovine leukocyte antigen DRB3 alleles as candidate markers for clinical mastitis resistance in Holstein x Zebu.

    Science.gov (United States)

    Duangjinda, M; Buayai, D; Pattarajinda, V; Phasuk, Y; Katawatin, S; Vongpralub, T; Chaiyotvittayakul, A

    2009-02-01

    Bovine leukocyte antigen DRB3 alleles from Holstein x Zebu crossbred dairy cows (n = 409) were analyzed using the PCR-RFLP technique. Exon II of DRB3 was amplified using locus-specific primers (HLO30/HLO32), followed by digestion with 3 restriction enzymes (RsaI, BstyI, and HaeIII). Forty alleles were found with frequency ranging from 0.005 to 0.139. The most frequently detected alleles of Holstein x Zebu were DRB3*16, *51, *23, *11, *8, and *1, accounting for 61.12% of the alleles in the population. Detection of candidate alleles for clinical mastitis occurrence was performed by logistic regression. It was found that percentage of Holstein fraction in crossbred cows had a nonsignificant effect (P > 0.05). However, parity had a significant effect on mastitis occurrence. In addition, DRB3*1 and *52 were the most associated with the occurrence of clinical mastitis, whereas *15, *51, and *22 were associated with resistance in crossbred populations. This is the first report of association of DRB3*15 and *51 with mastitis resistance. The association was validated by examining the candidate alleles in another commercial population. Highly susceptible (n = 43) and resistant (n = 42) groups of Holstein x Zebu cows were investigated. The result confirmed that DRB3*1 and *52 could be considered as susceptibility alleles, whereas *15, *51, and *22 could be considered as resistant alleles in Holstein x Zebu raised under tropical conditions. In addition, allele effects on 305-d milk production were estimated by BLUP. It was shown that most alleles associated with high clinical mastitis occurrence were related to increased milk yield. This study revealed that allele DRB3*10 had the greatest effect on increasing milk yield with moderate resistance to clinical mastitis, which could be used as a potential marker for selection in dairy genetic evaluation.

  5. The Rh allele frequencies in Gaza city in Palestine

    Directory of Open Access Journals (Sweden)

    Skaik Younis

    2011-01-01

    Full Text Available Background: The Rh blood group system is the second most clinically significant blood group system. It includes 49 antigens, but only five (D, C, E, c and e are the most routinely identified due to their unique relation to hemolytic disease of the newborn (HDN and transfusion reactions. Frequency of the Rh alleles showed variation, with regard to race and ethnic. Objectives: The purpose of the study was to document the Rh alleles′ frequencies amongst males (M and females (F in Gaza city in Palestine. Materials and Methods: Two hundred and thirty-two blood samples (110 M and 122 F were tested against monoclonal IgM anti-C,anti-c, anti-E, anti-e and a blend of monoclonal/polyclonal IgM/IgG anti-D. The expected Rh phenotypes were calculated using gene counting method. Results: The most frequent Rh antigen in the total sample was e, while the least frequent was E.The order of the combined Rh allele frequencies in both M and F was CDe > cDe > cde > CdE > cDE > Cde > CDE. A significant difference was reported between M and F regarding the phenotypic frequencies (P < 0.05. However, no significance (P > 0.05 was reported with reference to the observed and expected Rh phenotypic frequencies in either M or F students. Conclusion: It was concluded that the Rh antigens, alleles and phenotypes in Gaza city have unique frequencies, which may be of importance to the Blood Transfusion Center in Gaza city and anthropology.

  6. 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

  7. An importance of the muscular imbalance in the context of functional disorders of the spine

    OpenAIRE

    JOZOVÁ, Kateřina

    2010-01-01

    ABSTRACT A topic of my thesis is an importance of the muscular imbalance in the context of functional disorders of the spine. The topic has been very up-to-date, because a large proportion of the population suffers from vertebral disorders of functional nature, which are just caused by muscular imbalances. A goal of the first part of the thesis was a theoretic analysis of the problem of muscular imbalances and functional disorders of the spine. A content of that chapter is an introduction to ...

  8. Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia.

    Science.gov (United States)

    Abeti, Rosella; Uzun, Ebru; Renganathan, Indhushri; Honda, Tadashi; Pook, Mark A; Giunti, Paola

    2015-09-01

    Friedreich's ataxia (FRDA) is an autosomal recessive disorder, caused by reduced levels of the protein frataxin. This protein is located in the mitochondria, where it functions in the biogenesis of iron-sulphur clusters (ISCs), which are important for the function of the mitochondrial respiratory chain complexes. Moreover, disruption in iron biogenesis may lead to oxidative stress. Oxidative stress can be the cause and/or the consequence of mitochondrial energy imbalance, leading to cell death. Fibroblasts from two FRDA mouse models, YG8R and KIKO, were used to analyse two different categories of protective compounds: deuterised poly-unsaturated fatty acids (dPUFAs) and Nrf2-inducers. The former have been shown to protect the cell from damage induced by lipid peroxidation and the latter trigger the well-known Nrf2 antioxidant pathway. Our results show that the sensitivity to oxidative stress of YG8R and KIKO mouse fibroblasts, resulting in cell death and lipid peroxidation, can be prevented by d4-PUFA and Nrf2-inducers (SFN and TBE-31). The mitochondrial membrane potential (ΔΨm) of YG8R and KIKO fibroblasts revealed a difference in their mitochondrial pathophysiology, which may be due to the different genetic basis of the two models. This suggests that variable levels of reduced frataxin may act differently on mitochondrial pathophysiology and that these two cell models could be useful in recapitulating the observed differences in the FRDA phenotype. This may reflect a different modulatory effect towards cell death that will need to be investigated further.

  9. 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.

  10. 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

  11. Allele-specific PCR detection of sweet cherry self-incompatibility (S) alleles S1 to S16 using consensus and allele-specific primers.

    Science.gov (United States)

    Sonneveld, T; Tobutt, K R; Robbins, T P

    2003-10-01

    PCR-based identification of all 13 known self-incompatibility (S) alleles of sweet cherry is reported. Two pairs of consensus primers were designed from our previously published cDNA sequences of S(1) to S(6) S-RNases, the stylar components of self-incompatibility, to reveal length variation of the first and the second introns. With the exception of the first intron of S(13), these also amplified S(7) to S(14) and an allele previously referred to as S(x), which we now label S(16). The genomic PCR products were cloned and sequenced. The partial sequence of S(11) matched that of S(7) and the alleles were shown to have the same functional specificity. Allele-specific primers were designed for S(7) to S(16), so that allele-specific primers are now available for all 13 S alleles of cherry (S(8), S(11) and S(15) are duplicates). These can be used to distinguish between S alleles with introns of similar size and to confirm genotypes determined with consensus primers. The reliability of the PCR with allele-specific primers was improved by the inclusion of an internal control. The use of the consensus and allele-specific primers was demonstrated by resolving conflicting genotypes that have been published recently and by determining genotypes of 18 new cherry cultivars. Two new groups are proposed, Group XXIII (S(3) S(16)), comprising 'Rodmersham Seedling' and 'Strawberry Heart', and Group XXIV (S(6) S(12)), comprising 'Aida' and 'Flamentiner'. Four new self-compatibility genotypes, S(3) S(3)', S(4)' S(6), S(4)' S(9) and S(4)' S(13), were found. The potential use of the consensus primers to reveal incompatibility alleles in other cherry species is also demonstrated.

  12. 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.

  13. Antibiotic-induced imbalances in gut microbiota aggravates cholesterol accumulation and liver injuries in rats fed a high-cholesterol diet.

    Science.gov (United States)

    Hu, Xu; Wang, Tao; Liang, Shan; Li, Wei; Wu, Xiaoli; Jin, Feng

    2015-11-01

    Increasing evidence suggests that maintenance of homeostasis between gut microbiota and host plays an important role in human health. Many diseases, such as those affecting the liver, have been linked to imbalances in gut microbial communities. However, it is not clear whether an imbalance in gut microbiota promotes the onset of liver injury or if the imbalance results from the pathological state. In the current study, antibiotics were used to disturb the gut microbiota of both rats fed a high-cholesterol diet and rats fed a normal diet (controls). The prevalence of Bacteroidetes and Firmicutes were reduced, and Proteobacteria was greatly increased in the guts of rats after antibiotic treatment. The antibiotic-induced perturbation of gut microbiota aggravated cholesterol accumulation and liver injury in rats fed a high-cholesterol diet. This may have been due to an increase in intestinal permeability and plasma lipopolysaccharide (LPS), which lead to an increase in LPS absorption and activation of TLR4 signaling, resulting in the synthesis of pro-inflammatory cytokines and chemokines in liver tissues. This study suggests that imbalances in gut microbiota may be a predisposing factor for the onset of metabolic diseases and liver injuries related to cholesterol and high-cholesterol diets. Modulation of gut microbiota could be a novel target for preventing cholesterol-related metabolic disorders.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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...

  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. 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.

  1. Pelvis morphology, trunk posture and standing imbalance and their relations to the Cobb angle in moderate and severe untreated AIS.

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    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.

  2. 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

  3. 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.......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....

  4. Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

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    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.

  5. 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

  6. Genetic structure, diversity, and allelic richness in composite collection and reference set in chickpea (Cicer arietinum L.

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    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

  7. Maternal and fetal human leukocyte antigen class Ia and II alleles in severe preeclampsia and eclampsia

    DEFF Research Database (Denmark)

    Emmery, J.; Hachmon, R.; Pyo, C. W.;

    2016-01-01

    and -DPB1) alleles and the risk of developing severe preeclampsia/eclampsia were investigated in a detailed and large-scale study. In total, 259 women diagnosed with severe preeclampsia or eclampsia and 260 matched control women with no preeclampsia, together with their neonates, were included in the study....... HLA genotyping for mothers and neonates was performed using next-generation sequencing. The HLA-DPB1*04:01:01G allele was significantly more frequent (Pc=0.044) among women diagnosed with severe preeclampsia/eclampsia compared with controls, and the DQA1*01:02:01G allele frequency was significantly...... lower (Pc=0.042) among newborns born by women with severe preeclampsia/eclampsia compared with controls. In mothers with severe preeclampsia/eclampsia, homozygosity was significantly more common compared with controls at the HLA-DPB1 locus (Pc=0.0028). Although the current large study shows some...

  8. 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.

  9. Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran.

    Science.gov (United States)

    Aghajani, Faeghe; Mahdavi, Mohammad Reza; Kosaryan, Mehrnoush; Mahdavi, Mehrad; Hamidi, Mohaddese; Jalali, Hossein

    2016-12-21

    Carrier frequency of the β(S) allele has been reported to be 0.19% in Mazandaran province, northern Iran. Haplotype analysis of the β(S) allele helps trace the origin of its encoded hemoglobin (Hb) variant, Hb S, in a region. The aim of this study was to investigate the haplotypes associated with β(S) alleles in Mazandaran province. Capillary electrophoresis was carried out to detect individuals suspected to have a βS allele(s). DNA analysis (PCR-RFLP) was used for final confirmation. To identify 5\\' to 3\\' β-globin gene cluster haplotypes associated with β(S) alleles, family linkage analysis was applied. Six polymorphic sites (HincII 5' to ε, XmnI 5' to (G)γ, HindIII in (G)γ, HindIII in (A)γ, HincII 3' to ψβ and AvaII in β) were investigated using the PCR-RFLP method. Five different haplotypes were linked to β(S) alleles, while β(A) alleles were associated with nine haplotypes. Among the β(S) alleles, 53.9% were associated with the Benin (----++) haplotype, and the Arab-Indian (+++-++) haplotype had the second-highest frequency (23%). Unlike southern provinces, where the Arab-Indian haplotype is prominent, the Benin haplotype is the most frequent haplotype in northern Iran, and this may represent a founder effect. Since the Benin haplotype does not carry the XmnI polymorphism 5' to the (G)γ gene, which is responsible for high expression of Hb F, a severe form of sickle cell disease can be anticipated in patients that are homozygous for the β(S) allele in the northern region.

  10. 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

  11. Allele-specific locus binding and genome editing by CRISPR at the p16INK4a locus.

    Science.gov (United States)

    Fujita, Toshitsugu; Yuno, Miyuki; Fujii, Hodaka

    2016-07-28

    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.

  12. HLA-B alleles of the Navajo: no evidence for rapid evolution in the Nadene.

    Science.gov (United States)

    Garber, T L; McAdam, S N; Butler, L M; Crocker, P; Piekarczyk, M; Troup, G M; Milford, E L; Watkins, D I

    1996-02-01

    New HLA-B locus alleles have been found in South American Amerindian populations but were largely absent in North American Amerindian tribes also descended from this first Paleo-Indian migration. We have now extended these studies to the Navajo, descendants of the second Nadene migration. No new functional alleles were found at the B locus of this tribe. This limited study supports the notion that while new B locus variants are common in South American Amerindians, it is more difficult to find new B locus alleles in North American native peoples. Whether this dichotomy is due to differences in pathogen environment and/or population structures between North and South America remains a subject of speculation.

  13. Model-integrated estimation of normal tissue contamination for cancer SNP allelic copy number data.

    Science.gov (United States)

    Stjernqvist, Susann; Rydén, Tobias; Greenman, Chris D

    2011-01-01

    SNP allelic copy number data provides intensity measurements for the two different alleles separately. We present a method that estimates the number of copies of each allele at each SNP position, using a continuous-index hidden Markov model. The method is especially suited for cancer data, since it includes the fraction of normal tissue contamination, often present when studying data from cancer tumors, into the model. The continuous-index structure takes into account the distances between the SNPs, and is thereby appropriate also when SNPs are unequally spaced. In a simulation study we show that the method performs favorably compared to previous methods even with as much as 70% normal contamination. We also provide results from applications to clinical data produced using the Affymetrix genome-wide SNP 6.0 platform.

  14. Reduced levels of brain-derived neurotrophic factor contribute to synaptic imbalance during the critical period of respiratory development in rats.

    Science.gov (United States)

    Gao, Xiu-Ping; Liu, Qiuli; Nair, Bindu; Wong-Riley, Margaret T T

    2014-07-01

    Previously, our electrophysiological studies revealed a transient imbalance between suppressed excitation and enhanced inhibition in hypoglossal motoneurons of rats on postnatal days (P) 12-13, a critical period when abrupt neurochemical, metabolic, ventilatory and physiological changes occur in the respiratory system. The mechanism underlying the imbalance is poorly understood. We hypothesised that the imbalance was contributed by a reduced expression of brain-derived neurotrophic factor (BDNF), which normally enhances excitation and suppresses inhibition. We also hypothesised that exogenous BDNF would partially reverse this synaptic imbalance. Immunohistochemistry/single-neuron optical densitometry, real-time quantitative PCR (RT-qPCR) and whole-cell patch-clamp recordings were done on hypoglossal motoneurons in brainstem slices of rats during the first three postnatal weeks. Our results indicated that: (1) the levels of BDNF and its high-affinity tyrosine receptor kinase B (TrkB) receptor mRNAs and proteins were relatively high during the first 1-1.5 postnatal weeks, but dropped precipitously at P12-13 before rising again afterwards; (2) exogenous BDNF significantly increased the normally lowered frequency of spontaneous excitatory postsynaptic currents but decreased the normally heightened amplitude and frequency of spontaneous inhibitory postsynaptic currents (sIPSCs) during the critical period; (3) exogenous BDNF also decreased the normally heightened frequency of miniature IPSCs at P12-13; and (4) the effect of exogenous BDNF was partially blocked by K252a, a TrkB receptor antagonist. Thus, our results are consistent with our hypothesis that BDNF and TrkB play an important role in the synaptic imbalance during the critical period. This may have significant implications for the mechanism underlying sudden infant death syndrome.

  15. Alarmingly High Segregation Frequencies of Quinolone Resistance Alleles within Human and Animal Microbiomes Are Not Explained by Direct Clinical Antibiotic Exposure.

    Science.gov (United States)

    Field, Wesley; Hershberg, Ruth

    2015-05-26

    Antibiotic resistance poses a major threat to human health. It is therefore important to characterize the frequency of resistance within natural bacterial environments. Many studies have focused on characterizing the frequencies with which horizontally acquired resistance genes segregate within natural bacterial populations. Yet, very little is currently understood regarding the frequency of segregation of resistance alleles occurring within the housekeeping targets of antibiotics. We surveyed a large number of metagenomic datasets extracted from a large variety of host-associated and non host-associated environments for such alleles conferring resistance to three groups of broad spectrum antibiotics: streptomycin, rifamycins, and quinolones. We find notable segregation frequencies of resistance alleles occurring within the target genes of each of the three antibiotics, with quinolone resistance alleles being the most frequent and rifamycin resistance alleles being the least frequent. Resistance allele frequencies varied greatly between different phyla and as a function of environment. The frequency of quinolone resistance alleles was especially high within host-associated environments, where it averaged an alarming ∼ 40%. Within host-associated environments, resistance to quinolones was most often conferred by a specific resistance allele. High frequencies of quinolone resistance alleles were also found within hosts that were not directly treated with antibiotics. Therefore, the high segregation frequency of quinolone resistance alleles occurring within the housekeeping targets of antibiotics in host-associated environments does not seem to be the sole result of clinical antibiotic usage.

  16. Osteogensis imperfecta type I is commonly due to a COLIAI null allel of type I collagen

    Energy Technology Data Exchange (ETDEWEB)

    Willing, M.C.; Pruchno, C.J. (Univ. of Iowa, Iowa City, IA (United States)); Atkinson, M.; Byers, P.H. (Univ. of Washington, Seattle, WA (United States))

    1992-09-01

    Dermal fibroblasts from most individuals with osteogenesis imperfecta (OI) type I produce about half the normal amount of type I procollagen, as a result of decreased synthesis of one of its constituent chains, pro[alpha](I). To test the hypothesis that decreased synthesis of pro[alpha](I) chains results from mutations in the COL1A1 gene, the authors used primer extension with nucleotide-specific chain termination to measure the contribution of individual COL1A1 alleles to the mRNA pool in fibroblasts from affected individuals. A polymorphic Mn/I restriction endonuclease site in the 3'-untranslated region of COL1A1 was used to distinguish the transcripts of the two alleles in heterozygous individuals. Twenty-three individuals from 21 unrelated families were studied. In each case there was marked diminution in steady-state mRNA levels from one COL1A2 allele. Loss of an allele through deletion or rearrangement was not the cause of the diminished COL1A1 mRNA levels. Primer extension with nucleotide-specific chain termination allows identification of the mutant COL1A1 allele in cell strains that are heterozygous for an expressed polymorphism. It is applicable to sporadic cases, to small families, and to large families in whom key individuals are uninformative at the polymorphic sites used in linkage analysis, making it a useful adjunct to the biochemical screening of collagenous proteins for OI. 40 refs., 3 figs., 1 tab.

  17. CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia.

    Science.gov (United States)

    Kuzmanovska, M; Dimishkovska, M; Maleva Kostovska, I; Noveski, P; Sukarova Stefanovska, E; Plaseska-Karanfilska, D

    2015-12-01

    Cytochrome P450 2D6 (CYP2D6) is an enzyme of great importance for the metabolism of clinically used drugs. More than 100 variants of the CYP2D6 gene have been identified so far. The aim of this study was to investigate the allele distribution of CYP2D6 gene variants in 100 individuals of each of the Macedonian, Albanian and Romany population, by genotyping using long range polymerase chain reaction (PCR) and a multiplex single base extension method. The most frequent variants and almost equally distributed in the three groups were the fully functional alleles *1 and *2. The most common non functional allele in all groups was *4 that was found in 22.5% of the Albanians. The most common allele with decreased activity was *41 which was found in 23.0% of the Romany ethnic group, in 11.0% of the Macedonians and in 10.5% of the Albanians. Seven percent of the Albanians, 6.0% of the Romani and 4.0% of the Macedonians were poor metabolizers, while 5.0% of the Macedonians, 1.0% of Albanians and 1.0% of the Romanies were ultrarapid metabolizers. We concluded that the CYP2D6 gene locus is highly heterogeneous in these groups and that the prevalence of the CYP2D6 allele variants and genotypes in the Republic of Macedonia is in accordance with that of other European populations.

  18. Allelic Prevalence of ABO Blood Group Genes in Iranian Azari Population

    Directory of Open Access Journals (Sweden)

    Mohammad Nojavan

    2012-12-01

    Full Text Available Introduction: ABO blood group system is the most important blood group in transfusion and has been widely used in population studies. Several molecular techniques for ABO allele’s detection are widely used for distinguishing various alleles of glycosyl transferase locus on chromosome 9. Methods: 744 randomly selected samples from Azari donors of East Azerbaijan province (Iran were examined using well-adjusted multiplex allele- specific PCR ABO genotyping technique. Results: The results were consistent for all individuals. The ABO blood group genotype of 744 healthy Azari blood donors was: 25.8% AA/AO (2, 7.6% AO (1, 1.6% BB, 11.3% B0 (1, 10% AB, 9.3% 0(10(1 and 15.3%0(10(2. The highest genotype frequency belonged to O01/O02 genotype (15.3% and the lowest frequency belonged to A101/A102 genotype (0.4%. Conclusions: The frequencies of ABO alleles didn’t show significant differences between East Azerbaijan province population and that of other areas of the country. Meanwhile, statistical analysis of frequencies of A and B alleles between East Azerbaijan province population and neighbor countries showed significant differences whereas the frequency of allele O between them did not show significant difference (P>0.05.

  19. 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.

  20. Allelic diversity associated with aridity gradient in wild emmer wheat populations.

    Science.gov (United States)

    Peleg, Zvi; Saranga, Yehoshua; Krugman, Tamar; Abbo, Shahal; Nevo, Eviatar; Fahima, Tzion

    2008-01-01

    The association between allelic diversity and ecogeographical variables was studied in natural populations of wild emmer wheat [Triticum turgidum ssp. dicoccoides (Körn.) Thell.], the tetraploid progenitor of cultivated wheat. Patterns of allelic diversity in 54 microsatellite loci were analyzed in a collection of 145 wild emmer wheat accessions representing 25 populations that were sampled across naturally occurring aridity gradient in Israel and surrounding regions. The obtained results revealed that 56% of the genetic variation resided among accessions within populations, while only 44% of the variation resided between populations. An unweighted pair-group method analysis (UPGMA) tree constructed based on the microsatellite allelic diversity divided the 25 populations into six major groups. Several groups were comprised of populations that were collected in ecologically similar but geographically remote habitats. Furthermore, genetic differentiation between populations was independent of the geographical distances. An interesting evolutionary phenomenon is highlighted by the unimodal relationship between allelic diversity and annual rainfall (r = 0.74, P < 0.0002), indicating higher allelic diversity in populations originated from habitats with intermediate environmental stress (i.e. rainfall 350-550 mm year(-1)). These results show for the first time that the 'intermediate-disturbance hypothesis', explaining biological diversity at the ecosystem level, also dominates the genetic diversity within a single species, the lowest hierarchical element of the biological diversity.

  1. 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.

  2. STRait Razor: a length-based forensic STR allele-calling tool for use with second generation sequencing data.

    Science.gov (United States)

    Warshauer, David H; Lin, David; Hari, Kumar; Jain, Ravi; Davis, Carey; Larue, Bobby; King, Jonathan L; Budowle, Bruce

    2013-07-01

    Recent studies have demonstrated the capability of second generation sequencing (SGS) to provide coverage of short tandem repeats (STRs) found within the human genome. However, there are relatively few bioinformatic software packages capable of detecting these markers in the raw sequence data. The extant STR-calling tools are sophisticated, but are not always applicable to the analysis of the STR loci commonly used in forensic analyses. STRait Razor is a newly developed Perl-based software tool that runs on the Linux/Unix operating system and is designed to detect forensically-relevant STR alleles in FASTQ sequence data, based on allelic length. It is capable of analyzing STR loci with repeat motifs ranging from simple to complex without the need for extensive allelic sequence data. STRait Razor is designed to interpret both single-end and paired-end data and relies on intelligent parallel processing to reduce analysis time. Users are presented with a number of customization options, including variable mismatch detection parameters, as well as the ability to easily allow for the detection of alleles at new loci. In its current state, the software detects alleles for 44 autosomal and Y-chromosome STR loci. The study described herein demonstrates that STRait Razor is capable of detecting STR alleles in data generated by multiple library preparation methods and two Illumina(®) sequencing instruments, with 100% concordance. The data also reveal noteworthy concepts related to the effect of different preparation chemistries and sequencing parameters on the bioinformatic detection of STR alleles.

  3. Estimation of allele frequency and association mapping using next-generation sequencing data

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    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.

  4. Allelic variation in a willow warbler genomic region is associated with climate clines.

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    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.

  5. Low Penetrance Alleles in Colorectal Cancer: the arachidonic acid pathway

    NARCIS (Netherlands)

    C.L.E. Siezen

    2006-01-01

    textabstractIn summary, we can conclude that we have successfully identified low penetrance alleles in the PPAR., PLA2G2A and ALOX15 genes, conferring differential colorectal adenoma risk, and two such alleles in the PTGS2 gene, one of which is also involved in colorectal cancer risk. These resul

  6. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

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    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.

  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. Allelic polymorphism of Ovar-DRB1 exon2 gene and parasite resistance in two dairy sheep breeds

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    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

  10. 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

  11. 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

  12. 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

  13. Cytokine Imbalance as a Common Mechanism in Both Psoriasis and Rheumatoid Arthritis

    Science.gov (United States)

    Tan, Yong; Qi, Qiu; Bai, Yanping; Jiang, Chunyan; Wang, Yang

    2017-01-01

    Psoriasis (PS) and rheumatoid arthritis (RA) are immune-mediated inflammatory diseases. Previous studies showed that these two diseases had a common pathogenesis, but the precise molecular mechanism remains unclear. In this study, RNA sequencing of peripheral blood mononuclear cells was employed to explore both the differentially expressed genes (DEGs) of 10 PS and 10 RA patients compared with those of 10 healthy volunteers and the shared DEGs between these two diseases. Bioinformatics network analysis was used to reveal the connections among the shared DEGs and the corresponding molecular mechanism. In total, 120 and 212 DEGs were identified in PS and RA, respectively, and 31 shared DEGs were identified. Bioinformatics analysis indicated that the cytokine imbalance relevant to key molecules (such as extracellular signal-regulated kinase 1/2 (ERK1/2), p38 mitogen-activated protein kinase (MAPK), tumor necrosis factor (TNF), colony-stimulating factor 3 (CSF3), interleukin- (IL-) 6, and interferon gene (IFNG)) and canonical signaling pathways (such as the complement system, antigen presentation, macropinocytosis signaling, nuclear factor-kappa B (NF-κB) signaling, and IL-17 signaling) was responsible for the common comprehensive mechanism of PS and RA. Our findings provide a better understanding of the pathogenesis of PS and RA, suggesting potential strategies for treating and preventing both diseases. This study may also provide a new paradigm for illuminating the common pathogenesis of different diseases.

  14. 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...

  15. 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.

  16. Allele frequencies of the human platelet antigen-1 in the Egyptian population

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    Han Kyudong

    2009-05-01

    Full Text Available Abstract Background The human platelet alloantigen system HPA-1 in the Egyptian population was examined by polymerase chain reaction using sequence-specific primers (PCR-SSP. The objectives of this study were to evaluate the allele frequency of HPA-1a and -1b in healthy Egyptian individuals and compare these with the international literature. Human platelet antigen (HPA systems are associated with alloimmunization and organ transplantation rejection as well as the development of cardiovascular disease. Of the various HPA systems, HPA-1 specifically has been considered to be the most important antigenic system implicated in the Caucasian population. No study has yet examined this system in the Egyptian populations, however. We therefore investigated the allele frequency of the HPA-1 system in the Egyptian population. Findings To determine the allele frequency of the HPA-1a and -1b, we tested genomic DNAs from 206 healthy, unrelated Egyptian individuals using PCR-SSP. Our results showed that the 1a/1a genotype was the most predominant (59.22% followed by 1a/1b (34.95% and 1b/1b (5.83% with allele frequencies for 1a and 1b of 0.77 and 0.23, respectively, in the population. Conclusion As compared with other geographic groups, a relatively high allele frequency of the HPA-1b in the Egyptian population may indicate a higher risk of alloimmunization. This study is the first to investigate the allele frequency of the HPA-1 system in the Egyptian population and serves as an outline for future clinical research associated with platelet disorders in this group.

  17. 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.

  18. Association analysis of fiber quality traits and exploration of elite alleles in Upland cotton cultivars/accessions (Gossypium hirsutum L.).

    Science.gov (United States)

    Cai, Caiping; Ye, Wenxue; Zhang, Tianzhen; Guo, Wangzhen

    2014-01-01

    Exploring the elite alleles and germplasm accessions related to fiber quality traits will accelerate the breeding of cotton for fiber quality improvement. In this study, 99 Gossypium hirsutum L. accessions with diverse origins were used to perform association analysis of fiber quality traits using 97 polymorphic microsatellite marker primer pairs. A total of 107 significant marker-trait associations were detected for three fiber quality traits under three different environments, with 70 detected in two or three environments and 37 detected in only one environment. Among the 70 significant marker-trait associations, 52.86% were reported previously, implying that these are stable loci for target traits. Furthermore, we detected a large number of elite alleles associated simultaneously with two or three traits. These elite alleles were mainly from accessions collected in China, introduced to China from the United States, or rare alleles with a frequency of less than 5%. No one cultivar contained more than half of the elite alleles, but 10 accessions were collected from China and the two introduced from the United States did contain more than half of these alleles. Therefore, there is great potential for mining elite alleles from germplasm accessions for use in fiber quality improvement in modern cotton breeding.

  19. 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

  20. 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.

  1. 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.

  2. Identification of the novel HLA-DPB1*5801 allele detected by sequenced based typing

    Energy Technology Data Exchange (ETDEWEB)

    Versluis, L.F.; Zwan, A.W. van der; Tilanus, M.G.J. [Academic Hospital Utrecht (Netherlands); Daly, L.N.; Degli-Esposti, M.A.; Dawkins, R.L. [Royal Perth Hospital, Perth (Australia)

    1995-01-11

    Within the framework of HLA-DPB typing of the Fourth Asia-Oceanic Histocompatibility workshop (4AOH) we have typed the A, B, and E panels representing 101 samples. Sequenced based typing (SBT) was used as the method for typing described by Versluis and co-workers, but the sequencing chemistry was modified; in this study we have used the Sequenase enzyme instead of the thermal stable Taq enzyme. Sequences obtained were compared to a database containing all known 55 HLA-DPB1 alleles. One sample showed a new heterozygous sequence, indicating the presence of a new allele. 4 refs., 1 fig.

  3. Integrative Quantitative Proteomics Unveils Proteostasis Imbalance in Human Hepatocellular Carcinoma Developed on Nonfibrotic Livers*

    Science.gov (United States)

    Negroni, Luc; Taouji, Said; Arma, Daniela; Pallares-Lupon, Nestor; Leong, Kristen; Beausang, Lee Anne; Latterich, Martin; Bossé, Roger; Balabaud, Charles; Schmitter, Jean-Marie; Bioulac-Sage, Paulette; Zucman-Rossi, Jessica; Rosenbaum, Jean; Chevet, Eric

    2014-01-01

    Proteomics-based clinical studies represent promising resources for the discovery of novel biomarkers or for unraveling molecular mechanisms underlying particular diseases. Here, we present a discovery study of hepatocellular carcinoma developed on nonfibrotic liver (nfHCC) that combines complementary quantitative iTRAQ-based proteomics and phosphoproteomics approaches. Using both approaches, we compared a set of 24 samples (18 nfHCC versus six nontumor liver tissue). We identified 43 proteins (67 peptides) differentially expressed and 32 peptides differentially phosphorylated between the experimental groups. The functional analysis of the two data sets pointed toward the deregulation of a protein homeostasis (proteostasis) network including the up-regulation of the Endoplasmic Reticulum (ER) resident HSPA5, HSP90B1, PDIA6, and P4HB and of the cytosolic HSPA1B, HSP90AA1, HSPA9, UBC, CNDP2, TXN, and VCP as well as the increased phosphorylation of the ER resident calnexin at Ser583. Antibody-based validation approaches (immunohistochemistry, immunoblot, Alphascreen®, and AMMP®) on independent nfHCC tumor sets (up to 77 samples) confirmed these observations, thereby indicating a common mechanism occurring in nfHCC tumors. Based on these results we propose that adaptation to proteostasis imbalance in nfHCC tumors might confer selective advantages to those tumors. As such, this model could provide an additional therapeutic opportunity for those tumors arising on normal liver by targeting the tumor proteostasis network. Data are available via ProteomeXchange with identifier PXD001253. PMID:25225353

  4. Integrative quantitative proteomics unveils proteostasis imbalance in human hepatocellular carcinoma developed on nonfibrotic livers.

    Science.gov (United States)

    Negroni, Luc; Taouji, Said; Arma, Daniela; Pallares-Lupon, Nestor; Leong, Kristen; Beausang, Lee Anne; Latterich, Martin; Bossé, Roger; Balabaud, Charles; Schmitter, Jean-Marie; Bioulac-Sage, Paulette; Zucman-Rossi, Jessica; Rosenbaum, Jean; Chevet, Eric

    2014-12-01

    Proteomics-based clinical studies represent promising resources for the discovery of novel biomarkers or for unraveling molecular mechanisms underlying particular diseases. Here, we present a discovery study of hepatocellular carcinoma developed on nonfibrotic liver (nfHCC) that combines complementary quantitative iTRAQ-based proteomics and phosphoproteomics approaches. Using both approaches, we compared a set of 24 samples (18 nfHCC versus six nontumor liver tissue). We identified 43 proteins (67 peptides) differentially expressed and 32 peptides differentially phosphorylated between the experimental groups. The functional analysis of the two data sets pointed toward the deregulation of a protein homeostasis (proteostasis) network including the up-regulation of the Endoplasmic Reticulum (ER) resident HSPA5, HSP90B1, PDIA6, and P4HB and of the cytosolic HSPA1B, HSP90AA1, HSPA9, UBC, CNDP2, TXN, and VCP as well as the increased phosphorylation of the ER resident calnexin at Ser583. Antibody-based validation approaches (immunohistochemistry, immunoblot, Alphascreen(®), and AMMP(®)) on independent nfHCC tumor sets (up to 77 samples) confirmed these observations, thereby indicating a common mechanism occurring in nfHCC tumors. Based on these results we propose that adaptation to proteostasis imbalance in nfHCC tumors might confer selective advantages to those tumors. As such, this model could provide an additional therapeutic opportunity for those tumors arising on normal liver by targeting the tumor proteostasis network. Data are available via ProteomeXchange with identifier PXD001253.

  5. 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.

  6. Ethical guideposts for allelic variation databases.

    Science.gov (United States)

    Knoppers, B M; Laberge, C M

    2000-01-01

    Basically, a mutation database (MDB) is a repository where allelic variations are described and assigned within a specific gene locus. The purposes of an MDB may vary greatly and have different content and structure. The curator of an electronic and computer-based MDB will provide expert feedback (clinical and research). This requires ethical guideposts. Going to direct on-line public access for the content of an MDB or to interactive communication also raises other considerations. Currently, HUGO's MDI (Mutation Database Initiative) is the only integrated effort supporting and guiding the coordinated deployment of MDBs devoted to genetic diversity. Thus, HUGO's ethical "Statements" are applicable. Among the ethical principles, the obligation of preserving the confidentiality of information transferred by a collaborator to the curator is particularly important. Thus, anonymization of such data prior to transmission is essential. The 1997 Universal Declaration on the Human Genome and Human Rights of UNESCO addresses the participation of vulnerable persons. Researchers in charge of MDBs should ensure that information received on the testing of children or incompetent adults is subject to ethical review and approval in the country of origin. Caution should be taken against the involuntary consequences of public disclosure of results without complete explanation. Clear and enforceable regulations must be developed to protect the public against misuse of genetic databanks. Interaction with a databank could be seen as creating a "virtual" physician-patient relationship. However, interactive public MDBs should not give medical advice. We have identified new social ethical principles to govern different levels of complexity of genetic information. They are: reciprocity, mutuality, solidarity, and universality. Finally, precaution and prudence at this early stage of the MDI may not only avoid ethically inextricable conundrums but also provide for the respect for the rights

  7. Carrier Frequency Offset Estimation and I/Q Imbalance Compensation for OFDM Systems

    Directory of Open Access Journals (Sweden)

    M. Omair Ahmad

    2007-01-01

    Full Text Available Two types of radio-frequency front-end imperfections, that is, carrier frequency offset and the inphase/quadrature (I/Q imbalance are considered for orthogonal frequency division multiplexing (OFDM communication systems. A preamble-assisted carrier frequency estimator is proposed along with an I/Q imbalance compensation scheme. The new frequency estimator reveals the relationship between the inphase and the quadrature components of the received preamble and extracts the frequency offset from the phase shift caused by the frequency offset and the cross-talk interference due to the I/Q imbalance. The proposed frequency estimation algorithm is fast, efficient, and robust to I/Q imbalance. An I/Q imbalance estimation/compensation algorithm is also presented by solving a least-square problem formulated using the same preamble as employed for the frequency offset estimation. The computational complexity of the I/Q estimation scheme is further reduced by using part of the short symbols with a little sacrifice in the estimation accuracy. Computer simulation and comparison with some of the existing algorithms are conducted, showing the effectiveness of the proposed method.

  8. 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.

  9. 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.

  10. 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.

  11. Allele and genotype frequencies of CYP2B6 in a Turkish population.

    Science.gov (United States)

    Yuce-Artun, Nazan; Kose, Gulcin; Suzen, H Sinan

    2014-06-01

    Increasing interest in cytochrome P450 2B6 (CYP2B6) genetic polymorphism was stimulated by revelations of a specific CYP2B6 genotype significantly affecting the metabolism of various drugs in common clinical use in terms of increasing drug efficacy and avoiding adverse drug reactions. The present study aimed to determine the frequencies of CYP2B6*4 CYP2B6*5, CYP2B6*6, CYP2B6*7 and CYP2B6*9 alleles in healthy Turkish individuals (n = 172). Frequencies of three single nucleotide polymorphisms were 516G>T (28%), 785A>G (33%), and 1459C>T (12%). The frequencies of CYP2B6*1, *4, *5, *6, *7, and *9 alleles were 54.3 (95% CI 49.04-59.56), 6.4% (95% CI 3.81-8.99), 11% (95% CI 7.69-14.31), 25.3% (95% CI 20.71-29.89), 0.87% (95% CI -0.11-1.85) and 2.0% (95% CI 0.52-3.48), respectively. Allele *6 was more frequent (25.3%) than the other variant alleles in Turkish subjects. The frequencies of CYP2B6*4, *5, *6, *7, and *9 alleles were similar to European populations but significantly different from that reported for Asian populations. This is the first study to document the frequencies of the CYP2B6*4, *5, *6, *7, *9 alleles in the healthy Turkish individuals and our results could provide clinically useful information on drug metabolism by CYP2B6 in Turkish population.

  12. Rare exonic minisatellite alleles in MUC2 influence susceptibility to gastric carcinoma.

    Directory of Open Access Journals (Sweden)

    Yun Hee Jeong

    Full Text Available BACKGROUND: Mucins are the major components of mucus and their genes share a common, centrally-located region of sequence that encodes tandem repeats. Mucins are well known genes with respect to their specific expression levels; however, their genomic levels are unclear because of complex genomic properties. In this study, we identified eight novel minisatellites from the entire MUC2 region and investigated how allelic variation in these minisatellites may affect susceptibility to gastrointestinal cancer. METHODOLOGY/PRINCIPLE FINDINGS: We analyzed genomic DNA from the blood of normal healthy individuals and multi-generational family groups. Six of the eight minisatellites exhibited polymorphism and were transmitted meiotically in seven families, following Mendelian inheritance. Furthermore, a case-control study was performed that compared genomic DNA from 457 cancer-free controls with DNA from individuals with gastric (455, colon (192 and rectal (271 cancers. A statistically significant association was identified between rare exonic MUC2-MS6 alleles and the occurrence of gastric cancer: odds ratio (OR, 2.56; 95% confidence interval (CI, 1.31-5.04; and p = 0.0047. We focused on an association between rare alleles and gastric cancer. Rare alleles were divided into short (40, 43 and 44 and long (47, 50 and 54, according to their TR (tandem repeats lengths. Interestingly, short rare alleles were associated with gastric cancer (OR = 5.6, 95% CI: 1.93-16.42; p = 0.00036. Moreover, hypervariable MUC2 minisatellites were analyzed in matched blood and cancer tissue from 28 patients with gastric cancer and in 4 cases of MUC2-MS2, minisatellites were found to have undergone rearrangement. CONCLUSIONS/SIGNIFICANCE: Our observations suggest that the short rare MUC2-MS6 alleles could function as identifiers for risk of gastric cancer. Additionally, we suggest that minisatellite instability might be associated with MUC2 function in cancer cells.

  13. Myotonic Dystrophy: Increased expression of the normal allele in CDM infants muscle

    Energy Technology Data Exchange (ETDEWEB)

    Radvanyi, H.H.; Gourdon, G.; Junien, C. [Inserm U, Paris (France)]|[Universite Rene Descartes, Paris (France)

    1994-09-01

    Myotonic dystrophy (DM) is an autosomal dominant multisystemic disorder characterized by a highly variable clinical phenotype. The mutation has been identified as an unstable trinucleotide CTG repeat in the 3{prime} untranslated region of the myotonin-protein kinase (MT-PK) gene. Congenital myotonic dystrophy (CDM), which represents the most severe phenotype, is exclusively maternally inherited. Recent studies, analysis by Northern blots and RT-PCR provided apparently conflicting results on the mutated allele expression in samples from congenitally affected children. The level of expression of the mutant allele depends on the extent of the repeat in the adult form and is no longer expressed when over 800-1300 repeats, whether in adult forms or in CDM. Could this decrease account for the late onset forms? However, the differences between the two phenotypes cannot be explained by the same mechanism. Alternatively, these differences could be due to differences in expression of the normal allele. We analyzed by quantitative RT-PCR the expression of the MT-PK gene in muscle samples from four CDM infants and two aged-matched normal controls. In two of these, the mutant allele (3.3 and 8 kb) was undetectable on Northern blots. We observed an increased expression of the MT-PK gene (10- to 20-fold) in tissues of severely affected congenital patients which can be attributed to the normal allele. Since expression of the normal allele is either normal or slightly decreased in the adult form, the dramatic increase in the congenital form could reflect a disturbance in muscle differentiation. Expression studies of MT-PK at different stages of development and, especially after the 20th week, are therefore required.

  14. 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

  15. 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.

  16. The microcephalin ancestral allele in a Neanderthal individual.

    Directory of Open Access Journals (Sweden)

    Martina Lari

    Full Text Available BACKGROUND: The high frequency (around 0.70 worldwide and the relatively young age (between 14,000 and 62,000 years of a derived group of haplotypes, haplogroup D, at the microcephalin (MCPH1 locus led to the proposal that haplogroup D originated in a human lineage that separated from modern humans >1 million years ago, evolved under strong positive selection, and passed into the human gene pool by an episode of admixture circa 37,000 years ago. The geographic distribution of haplogroup D, with marked differences between Africa and Eurasia, suggested that the archaic human form admixing with anatomically modern humans might have been Neanderthal. METHODOLOGY/PRINCIPAL FINDINGS: Here we report the first PCR amplification and high-throughput sequencing of nuclear DNA at the microcephalin (MCPH1 locus from Neanderthal individual from Mezzena Rockshelter (Monti Lessini, Italy. We show that a well-preserved Neanderthal fossil dated at approximately 50,000 years B.P., was homozygous for the ancestral, non-D, allele. The high yield of Neanderthal mtDNA sequences of the studied specimen, the pattern of nucleotide misincorporation among sequences consistent with post-mortem DNA damage and an accurate control of the MCPH1 alleles in all personnel that manipulated the sample, make it extremely unlikely that this result might reflect modern DNA contamination. CONCLUSIONS/SIGNIFICANCE: The MCPH1 genotype of the Monti Lessini (MLS Neanderthal does not prove that there was no interbreeding between anatomically archaic and modern humans in Europe, but certainly shows that speculations on a possible Neanderthal origin of what is now the most common MCPH1 haplogroup are not supported by empirical evidence from ancient DNA.

  17. CYP2C9*2 allele increases risk for hypoglycemia in POR*1/*1 type 2 diabetic patients treated with sulfonylureas.

    Science.gov (United States)

    Ragia, G; Tavridou, A; Elens, L; Van Schaik, R H N; Manolopoulos, V G

    2014-01-01

    It is previously shown that carriers of the defective allele CYP2C9*3 that leads to impaired sulfonylurea metabolism are at increased sulfonylurea-induced hypoglycemia risk due to diminished drug metabolism, whereas no effect of CYP2C9*2 allele was found. Recently, a polymorphism in P450 oxidoreductase (POR) gene, assigned as POR*28 allele, was associated with increased CYP2C9 activity. The aim of this study was to assess i) the effect of POR*28 allele on sulfonylurea-induced hypoglycemia risk and ii) the association of CYP2C9*2 allele with hypoglycemia risk in non-carriers of POR*28 allele. The study group consisted of 176 patients with diagnosed type 2 diabetes mellitus (T2DM) treated with sulfonylureas, of whom 92 patients had experienced at least one drug-associated hypoglycemic event (cases), while 84 had never experienced a hypoglycemic event (controls). POR*28 allele was detected by use of real-time TaqMan PCR. POR*28 allele was not associated with sulfonyl-urea-induced hypoglycemia. In POR*1/*1 patients, CYP2C9*1/*2 genotype was more common in cases than in controls (32.7 vs. 14.3%, p=0.041). In a model adjusted for age, BMI, duration of T2DM and renal function, and POR*1/*1 entered as a selection variable, CYP2C9*2 allele increased the hypoglycemia risk in response to sulfonylurea (odds ratio: 3.218, p=0.031). In conclusion, our results suggest that POR*28 allele is masking the association of CYP2C9*2 allele with sulfonyl-urea-induced hypoglycemia. Therefore, POR*28 allele is an important source of CYP2C9 activity variability and combined with CYP2C9 gene poly-morphisms may explain individual variability in the effect of sulfonylureas.

  18. 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 increas