WorldWideScience

Sample records for allelic imbalance studies

  1. Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.

    Science.gov (United States)

    Balboa-Beltrán, Emilia; Cruz, Raquel; Carracedo, Angel; Barros, Francisco

    2015-07-01

    Allelic imbalance of thymidylate synthase (TYMS) is attributed to polymorphisms in the 5'- and 3'-untranslated region (UTR). These polymorphisms have been related to the risk of suffering different cancers, for example leukemia, breast or gastric cancer, and response to different drugs, among which are methotrexate glutamates, stavudine, and specifically 5-fluorouracil (5-FU), as TYMS is its direct target. A vast literature has been published in relation to 5-FU, even suggesting the sole use of these polymorphisms to effectively manage 5-FU dosage. Estimates of the extent to which these polymorphisms influence in TYMS expression have in the past been based on functional analysis by luciferase assays and quantification of TYMS mRNA, but both these studies, as the association studies with cancer risk or with toxicity or response to 5-FU, are very contradictory. Regarding functional assays, the artificial genetic environment created in luciferase assay and the problems derived from quantitative polymerase chain reactions (qPCRs), for example the use of a reference gene, may have distorted the results. To avoid these sources of interference, we have analyzed the allelic imbalance of TYMS by allelic-specific analysis in peripheral blood mononuclear cells (PBMCs) from patients.Allelic imbalance in PBMCs, taken from 40 patients with suspected myeloproliferative haematological diseases, was determined by fluorescent fragment analysis (for the 3'-UTR polymorphism), Sanger sequencing and allelic-specific qPCR in multiplex (for the 5'-UTR polymorphisms).For neither the 3'- nor the 5'-UTR polymorphisms did the observed allelic imbalance exceed 1.5 fold. None of the TYMS polymorphisms is statistically associated with allelic imbalance.The results acquired allow us to deny the previously established assertion of an influence of 2 to 4 fold of the rs45445694 and rs2853542 polymorphisms in the expression of TYMS and narrow its allelic imbalance to 1.5 fold, in our population

  2. 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...... of RNA sequencing. The visualization features can reveal notable, non-trivial allelic imbalance behavior over specific regions, such as exons. Conclusions: The software provides a complete framework to perform allelic imbalance analyses of aligned RNA sequencing data, from detection to visualization...

  3. Erasure and reestablishment of random allelic expression imbalance after epigenetic reprogramming.

    Science.gov (United States)

    Jeffries, Aaron Richard; Uwanogho, Dafe Aghogho; Cocks, Graham; Perfect, Leo William; Dempster, Emma; Mill, Jonathan; Price, Jack

    2016-10-01

    Clonal level random allelic expression imbalance and random monoallelic expression provides cellular heterogeneity within tissues by modulating allelic dosage. Although such expression patterns have been observed in multiple cell types, little is known about when in development these stochastic allelic choices are made. We examine allelic expression patterns in human neural progenitor cells before and after epigenetic reprogramming to induced pluripotency, observing that loci previously characterized by random allelic expression imbalance (0.63% of expressed genes) are generally reset to a biallelic state in induced pluripotent stem cells (iPSCs). We subsequently neuralized the iPSCs and profiled isolated clonal neural stem cells, observing that significant random allelic expression imbalance is reestablished at 0.65% of expressed genes, including novel loci not found to show allelic expression imbalance in the original parental neural progenitor cells. Allelic expression imbalance was associated with altered DNA methylation across promoter regulatory regions, with clones characterized by skewed allelic expression being hypermethylated compared to their biallelic sister clones. Our results suggest that random allelic expression imbalance is established during lineage commitment and is associated with increased DNA methylation at the gene promoter. © 2016 Jeffries et al.; Published by Cold Spring Harbor Laboratory Press for the RNA Society.

  4. Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Montag, Judith; Syring, Mandy; Rose, Julia; Weber, Anna-Lena; Ernstberger, Pia; Mayer, Anne-Kathrin; Becker, Edgar; Keyser, Britta; Dos Remedios, Cristobal; Perrot, Andreas; van der Velden, Jolanda; Francino, Antonio; Navarro-Lopez, Francesco; Ho, Carolyn Yung; Brenner, Bernhard; Kraft, Theresia

    2017-08-01

    HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the mutant and the wildtype allele can be unequal, thus leading to fractions of mutant and wildtype mRNA and protein which deviate from 1:1. This so-called allelic imbalance was detected in whole tissue samples but also in individual cells. There is evidence that the severity of HCM not only depends on the functional effect of the mutation itself, but also on the fraction of mutant protein in the myocardial tissue. Allelic imbalance has been shown to occur in a broad range of genes. Therefore, we aimed to examine whether the MYH7-alleles are intrinsically expressed imbalanced or whether the allelic imbalance is solely associated with the disease. We compared the expression of MYH7-alleles in non-HCM donors and in HCM-patients with different MYH7-missense mutations. In the HCM-patients, we identified imbalanced as well as equal expression of both alleles. Also at the protein level, allelic imbalance was determined. Most interestingly, we also discovered allelic imbalance and balance in non-HCM donors. Our findings therefore strongly indicate that apart from mutation-specific mechanisms, also non-HCM associated allelic-mRNA expression regulation may account for the allelic imbalance of the MYH7 gene in HCM-patients. Since the relative amount of mutant mRNA and protein or the extent of allelic imbalance has been associated with the severity of HCM, individual analysis of the MYH7-allelic expression may provide valuable information for the prognosis of each patient.

  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. Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome

    Science.gov (United States)

    Pinter, Stefan F.; Colognori, David; Beliveau, Brian J.; Sadreyev, Ruslan I.; Payer, Bernhard; Yildirim, Eda; Wu, Chao-ting; Lee, Jeannie T.

    2015-01-01

    In mammals, several classes of monoallelic genes have been identified, including those subject to X-chromosome inactivation (XCI), genomic imprinting, and random monoallelic expression (RMAE). However, the extent to which these epigenetic phenomena are influenced by underlying genetic variation is unknown. Here we perform a systematic classification of allelic imbalance in mouse hybrids derived from reciprocal crosses of divergent strains. We observe that deviation from balanced biallelic expression is common, occurring in ∼20% of the mouse transcriptome in a given tissue. Allelic imbalance attributed to genotypic variation is by far the most prevalent class and typically is tissue-specific. However, some genotype-based imbalance is maintained across tissues and is associated with greater genetic variation, especially in 5′ and 3′ termini of transcripts. We further identify novel random monoallelic and imprinted genes and find that genotype can modify penetrance of parental origin even in the setting of large imprinted regions. Examination of nascent transcripts in single cells from inbred parental strains reveals that genes showing genotype-based imbalance in hybrids can also exhibit monoallelic expression in isogenic backgrounds. This surprising observation may suggest a competition between alleles and/or reflect the combined impact of cis- and trans-acting variation on expression of a given gene. Our findings provide novel insights into gene regulation and may be relevant to human genetic variation and disease. PMID:25858912

  7. Genomic Features That Predict Allelic Imbalance in Humans Suggest Patterns of Constraint on Gene Expression Variation

    Science.gov (United States)

    Fédrigo, Olivier; Haygood, Ralph; Mukherjee, Sayan; Wray, Gregory A.

    2009-01-01

    Variation in gene expression is an important contributor to phenotypic diversity within and between species. Although this variation often has a genetic component, identification of the genetic variants driving this relationship remains challenging. In particular, measurements of gene expression usually do not reveal whether the genetic basis for any observed variation lies in cis or in trans to the gene, a distinction that has direct relevance to the physical location of the underlying genetic variant, and which may also impact its evolutionary trajectory. Allelic imbalance measurements identify cis-acting genetic effects by assaying the relative contribution of the two alleles of a cis-regulatory region to gene expression within individuals. Identification of patterns that predict commonly imbalanced genes could therefore serve as a useful tool and also shed light on the evolution of cis-regulatory variation itself. Here, we show that sequence motifs, polymorphism levels, and divergence levels around a gene can be used to predict commonly imbalanced genes in a human data set. Reduction of this feature set to four factors revealed that only one factor significantly differentiated between commonly imbalanced and nonimbalanced genes. We demonstrate that these results are consistent between the original data set and a second published data set in humans obtained using different technical and statistical methods. Finally, we show that variation in the single allelic imbalance-associated factor is partially explained by the density of genes in the region of a target gene (allelic imbalance is less probable for genes in gene-dense regions), and, to a lesser extent, the evenness of expression of the gene across tissues and the magnitude of negative selection on putative regulatory regions of the gene. These results suggest that the genomic distribution of functional cis-regulatory variants in the human genome is nonrandom, perhaps due to local differences in evolutionary

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

    Science.gov (United States)

    Djurisic, S; Teiblum, S; Tolstrup, C K; Christiansen, O B; Hviid, T V F

    2015-03-01

    The HLA-G molecule is expressed on trophoblast cells at the feto-maternal interface, where it interacts with local immune cells, and upholds tolerance against the semi-allogeneic fetus. Aberrant HLA-G expression in the placenta and reduced soluble HLA-G levels are observed in pregnancy complications, partly explained by HLA-G polymorphisms which are associated with differences in the alternative splicing pattern and of the stability of HLA-G mRNA. Of special importance is a 14 bp insertion/deletion polymorphism located in the 3'-untranslated region of the HLA-G gene. In the current study, we present novel evidence for allelic imbalance of the 14 bp insertion/deletion polymorphism, using a very accurate and sensitive Digital droplet PCR technique. Allelic imbalance in heterozygous samples was observed as differential expression levels of 14 bp insertion/deletion allele-specific mRNA transcripts, which was further associated with low levels of HLA-G surface expression on primary trophoblast cells. Full gene sequencing of HLA-G allowed us to study correlations between HLA-G extended haplotypes and single-nucleotide polymorphisms and HLA-G surface expression. We found that a 1:1 expression (allelic balance) of the 14 bp insertion/deletion mRNA alleles was associated with high surface expression of HLA-G and with a specific HLA-G extended haplotype. The 14 bp del/del genotype was associated with a significantly lower abundance of the G1 mRNA isoform, and a higher abundance of the G3 mRNA isoform. Overall, the present study provides original evidence for allelic imbalance of the 14 bp insertion/deletion polymorphism, which influences HLA-G surface expression on primary trophoblast cells, considered to be important in the pathogenesis of pre-eclampsia and other pregnancy complications. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  9. Identification of SNPs associated with muscle yield and quality traits using allelic-imbalance analysis analyses of pooled RNA-Seq samples in rainbow trout

    Science.gov (United States)

    Coding/functional SNPs change the biological function of a gene and, therefore, could serve as “large-effect” genetic markers. In this study, we used two bioinformatics pipelines, GATK and SAMtools, for discovering coding/functional SNPs with allelic-imbalances associated with total body weight, mus...

  10. 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...... of defective DNA repair in cell lines and tumors and correlated these signatures to platinum sensitivity. The number of subchromosomal regions with allelic imbalance extending to the telomere (NtAI) predicted cisplatin sensitivity in vitro and pathologic response to preoperative cisplatin treatment in patients...... also benefit from these agents. NtAI, a genomic measure of unfaithfully repaired DNA, may identify cancer patients likely to benefit from treatments targeting defective DNA repair. Cancer Discov; 2(4); 366–75. ©2012 AACR. This article is highlighted in the In This Issue feature, p. 288...

  11. Allelic imbalance on chromosome 1 in human breast cancer. I. Minisatellite and RFLP analysis.

    Science.gov (United States)

    Loupart, M L; Armour, J; Walker, R; Adams, S; Brammar, W; Varley, J

    1995-01-01

    In order to characterise the role of chromosome 1 more fully in breast cancer, polymorphic markers mapping along the length of the whole chromosome were used to assess a panel of 71 tumour-lymphocyte pairs for allelic imbalance. Complex patterns of alterations were established that are consistent with cytogenetic data in the literature. Deletion mapping of individuals with loss of heterozygosity identified five independent smallest common regions of deletion, two of which are novel. There are also three discrete regions showing a gain in copy number of one homologue. The two arms of the chromosome may be subject to different events; the short arm primarily undergoes interstitial deletions, whereas the long arm is subject to whole arm events (as both gains and losses) as well as regional deletions.

  12. 8q24 allelic imbalance and MYC gene copy number in primary prostate cancer.

    Science.gov (United States)

    Chen, H; Liu, W; Roberts, W; Hooker, S; Fedor, H; DeMarzo, A; Isaacs, W; Kittles, R A

    2010-09-01

    Four independent regions within 8q24 near the MYC gene are associated with risk for prostate cancer (Pca). Here, we investigated allelic imbalance (AI) at 8q24 risk variants and MYC gene DNA copy number (CN) in 27 primary Pcas. Heterozygotes were observed in 24 of 27 patients at one or more 8q24 markers and 27% of the loci exhibited AI in tumor DNA. The 8q24 risk alleles were preferentially favored in the tumors. Increased MYC gene CN was observed in 33% of tumors, and the co-existence of increased MYC gene CN with AI at risk loci was observed in 86% (P<0.004 exact binomial test) of the informative tumors. No AI was observed in tumors, which did not reveal increased MYC gene CN. Higher Gleason score was associated with tumors exhibiting AI (P=0.04) and also with increased MYC gene CN (P=0.02). Our results suggest that AI at 8q24 and increased MYC gene CN may both be related to high Gleason score in Pca. Our findings also suggest that these two somatic alterations may be due to the same preferential chromosomal duplication event during prostate tumorigenesis.

  13. 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

    Chromosome arm 17p is frequently altered in a variety of human cancers, especially in breast cancer, and allelic imbalances (AIs) in the region 17p13.1 do not always coincide with mutations in the TP53 gene. A second interval that frequently shows AIs at 17p is the chromosomal band 17p13.3. This ......Chromosome arm 17p is frequently altered in a variety of human cancers, especially in breast cancer, and allelic imbalances (AIs) in the region 17p13.1 do not always coincide with mutations in the TP53 gene. A second interval that frequently shows AIs at 17p is the chromosomal band 17p13...

  14. 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

    short-term cultured and karyotyped colorectal adenomas for allelic imbalance at eight microsatellite loci in 1p. Allelic imbalances were detected in seven of the 12 adenomas that had cytogenetically visible abnormalities of chromosome 1, as well as in four adenomas that either had a normal karyotype...... region. This genomic area contains the human homologue of the tumor modifier gene Mom1 (1p35-36.1), which, in mice, modifies the number of intestinal tumors in multiple intestinal neoplasia (Min)-mutated animals. To evaluate whether the imbalances corresponded to interstitial deletions of 1p material, we...

  15. Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.

    Science.gov (United States)

    Hesson, Luke B; Packham, Deborah; Kwok, Chau-To; Nunez, Andrea C; Ng, Benedict; Schmidt, Christa; Fields, Michael; Wong, Jason W H; Sloane, Mathew A; Ward, Robyn L

    2015-06-01

    Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. We investigated whether these variants were associated with other pathogenic alterations using targeted high-throughput sequencing of the MLH1 locus. We also determined their relationship to gene expression and epigenetic alterations at the promoter. Sequencing revealed that the c.-28A>G and c.-7C>T variants were the only potentially pathogenic alterations within the MLH1 gene. In both individuals, the levels of transcription from the variant allele were reduced to 50% compared with the wild-type allele. Partial loss of expression occurred in the absence of constitutional epigenetic alterations within the MLH1 promoter. We propose that these variants may be pathogenic due to constitutional partial loss of MLH1 expression, and that this may be associated with intermediate penetrance of a Lynch syndrome phenotype. Our findings provide further evidence of the potential importance of noncoding variants in the MLH1 5'UTR in the pathogenesis of Lynch syndrome. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

  16. 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.

  17. Genome-Wide analysis of allelic imbalance in laser microdissected prostate cancer tissue using the Affymetrix 50K Mapping array identifies genomic patterns associated with metastasis and differentiation

    DEFF Research Database (Denmark)

    Tørring, Niels; Borre, Michael; Sørensen, Karina

    2007-01-01

    , patterns of allelic imbalance were discovered in PCa, consisting allelic loss as an early event in tumour development, and distinct patterns of allelic amplification related to tumour progression and poor differentiation.British Journal of Cancer advance online publication, 23 January 2007; doi:10.1038/sj...

  18. Heat split imbalance study for annular fuel rod

    International Nuclear Information System (INIS)

    He Xiaojun; Ji Songtao; Zhang Yingchao

    2014-01-01

    Annular fuel rod has two gaps at inner and outer side. Under irradiation condition, the dimensional change of pellets is always larger than claddings' due to thermal expansion, swelling and densification, and this tends to enlarge the inner gap and reduce the outer gap. The gap size asymmetry must induce heat split imbalance problem that the heat flux will be larger at outer side of the rod. In this work, computer code AFPAC l.0 is used to simulate this heat split imbalance phenomena. The effect of initial gap size, rod inner pressure, roughness of pellets and cladding is studied, the results reveal that: l) Adjusting initial size of both gaps, reducing inner gap and enlarging outer gap could effectively alleviate heat split imbalance problem; 2) Adjusting the initial roughness of pellets and cladding is another effective approach to reducing heat split imbalance; 3) It seems that changing the rod inner pressure has a little effect on solving the heat flux asymmetry problem. (authors)

  19. Effort-Reward Imbalance and Burnout Among ICU Nursing Staff: A Cross-Sectional Study.

    Science.gov (United States)

    Padilla Fortunatti, Cristobal; Palmeiro-Silva, Yasna K

    Occupational stress is commonly observed among staff in intensive care units (ICUs). Sociodemographic, organizational, and job-related factors may lead to burnout among ICU health workers. In addition, these factors could modify the balance between efforts done and rewards perceived by workers; consequently, this imbalance could increase levels of emotional exhaustion and depersonalization and decrease a sense of personal accomplishment. The purpose of this study was to analyze the relationship between effort-reward imbalance and burnout dimensions (emotional exhaustion, depersonalization, and personal accomplishment) among ICU nursing staff in a university hospital in Santiago, Chile. A convenience sample of 36 registered nurses and 46 nurse aides answered the Maslach Burnout Inventory and Effort-Reward Imbalance Questionnaire and provided sociodemographic and work-related data. Age and effort-reward imbalance were significantly associated with emotional exhaustion in both registered nurses and nurse aides; age was negatively correlated with emotional exhaustion, whereas effort-reward imbalance was positively correlated. Age was negatively associated with depersonalization. None of the predictors were associated with personal accomplishment. This study adds valuable information about relationships of sociodemographic factors and effort-reward imbalance and their impact on dimensions of burnout, particularly on emotional exhaustion.

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

    International Nuclear Information System (INIS)

    Zapata, J.; Vandewalle, J.; D'haeseleer, W.

    2014-01-01

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

  1. Three Phase Power Imbalance Decomposition into Systematic Imbalance and Random Imbalance

    DEFF Research Database (Denmark)

    Kong, Wangwei; Ma, Kang; Wu, Qiuwei

    2017-01-01

    Uneven load allocations and random load behaviors are two major causes for three-phase power imbalance. The former mainly cause systematic imbalance, which can be addressed by low-cost phase swapping; the latter contribute to random imbalance, which requires relatively costly demand...... minimum phase, or both. Then, this paper proposes a new method to decompose three-phase power series into a systematic imbalance component and a random imbalance component as the closed-form solutions of quadratic optimization models that minimize random imbalance. A degree of power imbalance...... is calculated based on the systematic imbalance component to guide phase swapping. Case studies demonstrate that 72.8% of 782 low voltage substations have systematic imbalance components. The degree of power imbalance results reveal the maximum need for phase swapping and the random imbalance components reveal...

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

    International Nuclear Information System (INIS)

    Ehmann, W.D.; Vance, D.E.; Khare, S.S.; Kasarskis, E.J.; Markesbery, W.R.

    1988-01-01

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

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

    NARCIS (Netherlands)

    Vegchel, van N.; Jonge, de J.; Bosma, H.; Schaufeli, W.B.

    2005-01-01

    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

  4. Charge imbalance

    International Nuclear Information System (INIS)

    Clarke, J.

    1981-01-01

    This article provides a long theoretical development of the main ideas of charge imbalance in superconductors. Concepts of charge imbalance and quasiparticle charge are introduced, especially in regards to the use of tunnel injection in producing and detecting charge imbalance. Various mechanisms of charge relaxation are discussed, including inelastic scattering processes, elastic scattering in the presence of energy-gap anisotropy, and various pair-breaking mechanisms. In each case, present theories are reviewed in comparison with experimental data

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

    International Nuclear Information System (INIS)

    Ehmann, W.D.; Markesbery, W.R.; Thompson, C.M.; Vance, D.E.; Mao, Y.

    1986-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Carol A Soderlund

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

  7. Mineral imbalances in farm animals and their study and diagnosis with isotopic tracers

    International Nuclear Information System (INIS)

    Underwood, E.J.

    1976-01-01

    Twenty-two mineral elements are known to be essential for animal life. These are calcium, phosphorus, sulphur, potassium, sodium, chlorine, magnesium, iron, iodine, copper, manganese, zinc, cobalt, molybdenum, selenium, chromium, tin, vanadium, fluorine, silicon, nickel and arsenic. Naturally occurring and man-made dietary imbalances of many of these elements and their interactions with other minerals are described and their functions and requirements by farm animals are outlined. The nature and importance of metabolic interactions among the mineral elements are discussed and the important concept stressed that there is no single minimum requirement or safe tolerance of a particular mineral, but a series of such minimum requirements and safe tolerances depending on the extent to which other minerals with which it interacts is present or absent from the diet. Radioactive tracer elements are shown to be of great value in the determination of mineral nutrient availability to the animal and for following mineral metabolic movements in the body. They are also shown to have considerable potential for the diagnosis of mineral imbalances. Various in vivo and in vitro techniques involving both radioactive and stable tracers developed for the early diagnosis of mineral deficiencies are described and the strengths and weaknesses of such techniques, in comparison with standard biochemical tests, are discussed. The need for further critical studies with isotopic tracers in the detection and diagnosis of mineral imbalances is emphasized. The main types of biochemical criteria used in the diagnosis of mineral deficiencies and excesses are given, with appropriate examples of their use. (author)

  8. Computational study of effects of tension imbalance on phonation in a three-dimensional tubular larynx model.

    Science.gov (United States)

    Xue, Qian; Zheng, Xudong; Mittal, Rajat; Bielamowicz, Steven

    2014-07-01

    The present study explores the use of a continuum-based computational model to investigate the effect of left-right tension imbalance on vocal fold (VF) vibrations and glottal aerodynamics, as well as its implication on phonation. The study allows us to gain new insights into the underlying physical mechanism of irregularities induced by VF tension imbalance associated with unilateral cricothyroid muscle paralysis. A three-dimensional simulation of glottal flow and VF dynamics in a tubular laryngeal model with tension imbalance was conducted by using a coupled flow-structure interaction computational model. Tension imbalance was modeled by reducing by 20% the Young's modulus of one of the VFs, while holding VF length constant. Effects of tension imbalance on vibratory characteristic of the VFs and on the time-varying properties of glottal airflow as well as the aerodynamic energy transfer are comprehensively analyzed. The analysis demonstrates that the continuum-based biomechanical model can provide a good description of phonatory dynamics in tension imbalance conditions. It is found that although 20% tension imbalance does not have noticeable effects on the fundamental frequency, it does lead to a larger glottal flow leakage and asymmetric vibrations of the two VFs. A detailed analysis of the energy transfer suggests that the majority of the energy is consumed by the lateral motion of the VFs and the net energy transferred to the softer fold is less than the one transferred to the normal fold. Copyright © 2014 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

  9. Effort-Reward Imbalance at Work and Incident Coronary Heart Disease: A Multicohort Study of 90,164 Individuals.

    Science.gov (United States)

    Dragano, Nico; Siegrist, Johannes; Nyberg, Solja T; Lunau, Thorsten; Fransson, Eleonor I; Alfredsson, Lars; Bjorner, Jakob B; Borritz, Marianne; Burr, Hermann; Erbel, Raimund; Fahlén, Göran; Goldberg, Marcel; Hamer, Mark; Heikkilä, Katriina; Jöckel, Karl-Heinz; Knutsson, Anders; Madsen, Ida E H; Nielsen, Martin L; Nordin, Maria; Oksanen, Tuula; Pejtersen, Jan H; Pentti, Jaana; Rugulies, Reiner; Salo, Paula; Schupp, Jürgen; Singh-Manoux, Archana; Steptoe, Andrew; Theorell, Töres; Vahtera, Jussi; Westerholm, Peter J M; Westerlund, Hugo; Virtanen, Marianna; Zins, Marie; Batty, G David; Kivimäki, Mika

    2017-07-01

    Epidemiologic evidence for work stress as a risk factor for coronary heart disease is mostly based on a single measure of stressful work known as job strain, a combination of high demands and low job control. We examined whether a complementary stress measure that assesses an imbalance between efforts spent at work and rewards received predicted coronary heart disease. This multicohort study (the "IPD-Work" consortium) was based on harmonized individual-level data from 11 European prospective cohort studies. Stressful work in 90,164 men and women without coronary heart disease at baseline was assessed by validated effort-reward imbalance and job strain questionnaires. We defined incident coronary heart disease as the first nonfatal myocardial infarction or coronary death. Study-specific estimates were pooled by random effects meta-analysis. At baseline, 31.7% of study members reported effort-reward imbalance at work and 15.9% reported job strain. During a mean follow-up of 9.8 years, 1,078 coronary events were recorded. After adjustment for potential confounders, a hazard ratio of 1.16 (95% confidence interval, 1.00-1.35) was observed for effort-reward imbalance compared with no imbalance. The hazard ratio was 1.16 (1.01-1.34) for having either effort-reward imbalance or job strain and 1.41 (1.12-1.76) for having both these stressors compared to having neither effort-reward imbalance nor job strain. Individuals with effort-reward imbalance at work have an increased risk of coronary heart disease, and this appears to be independent of job strain experienced. These findings support expanding focus beyond just job strain in future research on work stress.

  10. Effort-reward imbalance and sedentary lifestyle: an observational study in a large occupational cohort

    OpenAIRE

    Kouvonen, Anne; Kivimäki, Mika; Elovainio, Marko; Pentti, Jaana; Linna, Anne; Virtanen, Marianna; Vahtera, Jussi

    2006-01-01

    Objectives: To investigate the association between effort-reward imbalance (ERI) at work and sedentary lifestyle.\\ud Methods: Cross-sectional data from the ongoing Finnish Public Sector Study related to 30 433 women and 7718 men aged 17-64 were used (n = 35 918 after exclusion of participants with missing values in covariates). From the responses to a questionnaire, an aggregated mean score for ERI in a work unit was assigned to each participant. The outcome was sedentary lifestyle defined as

  11. The odd one out: Revisiting and investigating the gender imbalance in ICT study choices

    Directory of Open Access Journals (Sweden)

    Scott Morton

    Full Text Available For the past two decades there has been an imbalance between male and female students entering the Bachelor of Information Technology degree from high schools. The literature suggests that only one in six students entering higher education to study computer related degrees are female. It also suggests that occupational stereotyping can be linked to the decline in the number of females entering computing degree courses. This research is proposing to revisit and investigate why this is still prevalent in today\\'s society that has been brought up on technology and can see the benefits of good careers and good jobs.

  12. Effort-Reward Imbalance and Work Productivity Among Hotel Housekeeping Employees: A Pilot Study.

    Science.gov (United States)

    Rosemberg, Marie-Anne S; Li, Yang

    2018-03-01

    This study explored the relationship between effort-reward imbalance (ERI) at work and work productivity among hotel housekeepers. A community-based approach was used to recruit 23 hotel housekeepers who completed the ERI and Work Performance Questionnaires. Work productivity was determined by combining self-report absenteeism and presenteeism. More than 40% of the participants reported high ERI (ERI >1). Also, 59.1% reported low work productivity. Interestingly, despite the individualized high reports of ERI and low work productivity, correlation analysis showed that high ERI was correlated with high presenteeism and work productivity as a whole. This is the first study to explore work productivity among this worker group. Despite the small sample size and the cross-sectional nature of the study, this study points to the need for organization-based interventions to not only improve employee health but also their work productivity.

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

    Directory of Open Access Journals (Sweden)

    Rong Chu

    Full Text Available 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.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.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.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.

  14. Assessment and Implication of Prognostic Imbalance in Randomized Controlled Trials with a Binary Outcome – A Simulation Study

    Science.gov (United States)

    Chu, Rong; Walter, Stephen D.; Guyatt, Gordon; Devereaux, P. J.; Walsh, Michael; Thorlund, Kristian; Thabane, Lehana

    2012-01-01

    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. PMID:22629322

  15. Elemental imbalance studies by INAA on extra neural tissues from amyotrophic lateral sclerosis patients

    International Nuclear Information System (INIS)

    Tandon, L.; Ehmann, W.D.

    1995-01-01

    Human kidney and liver tissues were studied for generalized elemental imbalances in amyotrophic lateral sclerosis (ALS) by instrumental neutron activation analysis (INAA). Iron was significantly increased (p<0.05) in ALS kidneys and Co and Fe (marginal, p<0.10) were increased in ALS liver compared with their respective controls. Mercury values were almost two-fold higher for ALS kidney and 17% higher for ALS liver as compared with their respective controls, However, the Hg data exhibited large variations and ALS-control differences were not significant. Data from the present study are discussed with reference to the role of metallothioneins (MT) in ALS, and a possible linkage between a free radical mediated mechanism and degeneration of cells in ALS is also explored. (author). 43 refs., 2 tabs

  16. Study of the degradation of the breakdown voltage of a super-junction power MOSFET due to charge imbalance

    International Nuclear Information System (INIS)

    Kondekar, Pravin N.; Oh, Hwan-Sool; Kim, Young-Beom

    2006-01-01

    In this research, we analytically designed a super-junction (SJ) structure and used a simulation tool to study its off-state charge imbalance behavior. In the case of a SJ MOSFET (CoolMOS TM ), designed for the lowest specific on- resistance R on , the MOS part of the transistor (channel region) affected the symmetry, creating a charge imbalance; in addition to this, the imbalance in the SJ drift layer, which was inherently due to limitations in the fabrication process was simulated by varying the doping density of the pillars up to 10 %. The underlying physical mechanisms responsible for the reduction of the breakdown voltage (BV) were investigated in detail by using the electric field profiles and potential contours. The effect of varying the junction depth of a p-body/well and the cell pitch on the breakdown voltage was also analyzed. The trade off between BV sensitivity and specific R on was also investigated.

  17. Competition for biomass. Regional imbalances

    International Nuclear Information System (INIS)

    Wiklund, S.E.; Bohlin, B.; Remes, M.; Aakesson, H.; Warnqvist, B.; Norrstroem, H.; Jonsson, Tomas

    1997-04-01

    The main aim of this study has been to investigate if a substantial increase in biofuel utilization may lead to pronounced regional differences in supply and demand, and what effects such imbalances could lead to. In the study the country has been split up into ten regions, from north to south, and it is confirmed that there would be an imbalance effect. confirmed that there would be an imbalance effect

  18. 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

  19. An exploratory clinical study to determine the utility of heart rate variability analysis in the assessment of dosha imbalance

    Directory of Open Access Journals (Sweden)

    P. Ram Manohar

    2018-04-01

    Full Text Available The present study is a comparison of the data of spectral analysis of heart rate variability with clinical evaluation of pathological state of doshas. The calculated cardiointervalography values are combined into three integral indexes, which according to the authors' opinion reflect the influence on heart rhythm of vata, pitta and kapha, the regulation systems of the body known as doshas in Ayurveda. Seven gross dosha imbalances were assessed to test the agreement between the two methods in this study. Heart Rate Variability (HRV spectral data was collected from 42 participants to make the comparison with the clinical assessment of dosha imbalance. Clinical method of dosha assessment and method of calculating integral indexes by cardiointervalography data showed substantial agreement by Kappa coefficient statistic (k = 0.78 in assessment of gross dosha imbalance. The results of the data generated from this pilot study warrant further studies to rigorously validate the algorithms of HRV analysis in understanding dosha imbalance in Ayurvedic clinical practice and research settings. Keywords: Heart rate variability, Ayurveda, Spectral analysis

  20. Effort-reward imbalance at work and job dissatisfaction in Chinese healthcare workers: a validation study.

    Science.gov (United States)

    Li, Jian; Yang, Wenjie; Cheng, Yawen; Siegrist, Johannes; Cho, Sung-Il

    2005-04-01

    The aim of this study was to test the reliability and validity of the Chinese version of the 23-item effort-reward imbalance (ERI) questionnaire and to analyze its association with job dissatisfaction in a sample of Chinese healthcare workers. A self-reported survey was conducted, in university hospitals of China, among 192 male and 608 female healthcare workers. Appropriate internal consistencies of the three scales: effort, reward, and overcommitment, were obtained. Exploratory factor analysis replicated the theoretically assumed structure of the ERI construct in men and women. Evidence of criterion validity was obtained from cross-correlations of the scales and from their correlations with gender, education and job dissatisfaction. Finally, all three scales were associated with an elevated odds ratio of job dissatisfaction, and the effect was strongest for the ERI ratio as predicted by theory. Based on the results of this study the Chinese version of the ERI questionnaire is considered a reliable and valid instrument for measuring psychosocial stress at work. It is applicable to Chinese working populations and, in particular, to the healthcare sector.

  1. Effort/reward imbalance and sedentary lifestyle: an observational study in a large occupational cohort.

    Science.gov (United States)

    Kouvonen, A; Kivimäki, M; Elovainio, M; Pentti, J; Linna, A; Virtanen, M; Vahtera, J

    2006-06-01

    To investigate the association between effort/reward imbalance (ERI) at work and sedentary lifestyle. Cross sectional data from the ongoing Finnish Public Sector Study related to 30,433 women and 7718 men aged 17-64 were used (n = 35,918 after exclusion of participants with missing values in covariates). From the responses to a questionnaire, an aggregated mean score for ERI in a work unit was assigned to each participant. The outcome was sedentary lifestyle defined as work unit level predictors in the models. Adjustments were made for age, marital status, occupational status, job contract, smoking, and heavy drinking. Twenty five per cent of women and 27% of men had a sedentary lifestyle. High individual level ERI was associated with a higher likelihood of sedentary lifestyle both among women (odds ratio (OR) = 1.08, 95% CI 1.01 to 1.16) and men (OR = 1.17, 95% CI 1.02 to 1.33). These associations were not explained by relevant confounders and they were also independent of work unit level job strain measured as a ratio of job demands and control. A mismatch between high occupational effort spent and low reward received in turn seems to be associated with an increased risk of sedentary lifestyle, although this association is relatively weak.

  2. Effort/reward imbalance and sedentary lifestyle: an observational study in a large occupational cohort

    Science.gov (United States)

    Kouvonen, A; Kivimäki, M; Elovainio, M; Pentti, J; Linna, A; Virtanen, M; Vahtera, J

    2006-01-01

    Objectives To investigate the association between effort/reward imbalance (ERI) at work and sedentary lifestyle. Methods Cross sectional data from the ongoing Finnish Public Sector Study related to 30 433 women and 7718 men aged 17–64 were used (n = 35 918 after exclusion of participants with missing values in covariates). From the responses to a questionnaire, an aggregated mean score for ERI in a work unit was assigned to each participant. The outcome was sedentary lifestyle defined as sedentary lifestyle. High individual level ERI was associated with a higher likelihood of sedentary lifestyle both among women (odds ratio (OR) = 1.08, 95% CI 1.01 to 1.16) and men (OR = 1.17, 95% CI 1.02 to 1.33). These associations were not explained by relevant confounders and they were also independent of work unit level job strain measured as a ratio of job demands and control. Conclusions A mismatch between high occupational effort spent and low reward received in turn seems to be associated with an increased risk of sedentary lifestyle, although this association is relatively weak. PMID:16497854

  3. Sleep quality and the treatment of intestinal microbiota imbalance in Chronic Fatigue Syndrome: A pilot study

    Directory of Open Access Journals (Sweden)

    Melinda L. Jackson

    2015-11-01

    Full Text Available Chronic Fatigue Syndrome (CFS is a multisystem illness, which may be associated with imbalances in gut microbiota. This study builds on recent evidence that sleep may be influenced by gut microbiota, by assessing whether changes to microbiota in a clinical population known to have both poor sleep and high rates of colonization with gram-positive faecal Streptococcus, can improve sleep. Twenty-one CFS participants completed a 22- day open label trial. Faecal microbiota analysis was performed at baseline and at the end of the trial. Participants were administered erythromycin 400 mg b.d. for 6 days. Actigraphy and questionnaires were used to monitor sleep, symptoms and mood. Changes in patients who showed a clinically significant change in faecal Streptococcus after treatment (responders; defined as post-therapy distribution<6% were compared to participants who did not respond to treatment. In the seven responders, there was a significant increase in actigraphic total sleep time (p=0.028 from baseline to follow up, compared with non-responders. Improved vigour scores were associated with a lower Streptococcus count (ρ=−0.90, p=0.037. For both the responders and the whole group, poorer mood was associated with higher Lactobacillus. Short term antibiotic treatment appears to be insufficient to effect sustainable changes in the gut ecosystem in most CFS participants. Some improvement in objective sleep parameters and mood were found in participants with reduced levels of gram-positive gut microbiota after antibiotic treatment, which is encouraging. Further study of possible links between gut microorganisms and sleep and mood disturbances is warranted.

  4. Investigating the relationship between predictability and imbalance in minimisation: a simulation study

    Science.gov (United States)

    2013-01-01

    Background The use of restricted randomisation methods such as minimisation is increasing. This paper investigates under what conditions it is preferable to use restricted randomisation in order to achieve balance between treatment groups at baseline with regard to important prognostic factors and whether trialists should be concerned that minimisation may be considered deterministic. Methods Using minimisation as the randomisation algorithm, treatment allocation was simulated for hypothetical patients entering a theoretical study having values for prognostic factors randomly assigned with a stipulated probability. The number of times the allocation could have been determined with certainty and the imbalances which might occur following randomisation using minimisation were examined. Results Overall treatment balance is relatively unaffected by reducing the probability of allocation to optimal treatment group (P) but within-variable balance can be affected by any P <1. This effect is magnified by increased numbers of prognostic variables, the number of categories within them and the prevalence of these categories within the study population. Conclusions In general, for smaller trials, probability of treatment allocation to the treatment group with fewer numbers requires a larger value P to keep treatment and variable groups balanced. For larger trials probability of allocation values from P = 0.5 to P = 0.8 can be used while still maintaining balance. For one prognostic variable there is no significant benefit in terms of predictability in reducing the value of P. However, for more than one prognostic variable, significant reduction in levels of predictability can be achieved with the appropriate choice of P for the given trial design. PMID:23537389

  5. ALFRED: An Allele Frequency Database for Microevolutionary Studies

    Directory of Open Access Journals (Sweden)

    Kenneth K Kidd

    2005-01-01

    Full Text Available Many kinds of microevolutionary studies require data on multiple polymorphisms in multiple populations. Increasingly, and especially for human populations, multiple research groups collect relevant data and those data are dispersed widely in the literature. ALFRED has been designed to hold data from many sources and make them available over the web. Data are assembled from multiple sources, curated, and entered into the database. Multiple links to other resources are also established by the curators. A variety of search options are available and additional geographic based interfaces are being developed. The database can serve the human anthropologic genetic community by identifying what loci are already typed on many populations thereby helping to focus efforts on a common set of markers. The database can also serve as a model for databases handling similar DNA polymorphism data for other species.

  6. 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...... varies in a wide range. To explain differences we indentify parameters influencing imbalance cost and compare them for case studies in Austria, Denmark and Poland. Besides the wind power forecast error also the correlation between imbalance and imbalance price influences imbalance cost significantly...... of imperfect forecast is better suited to reflect real cost incurred due to inaccurate wind power forecasts....

  7. Detection of Redox Imbalance in Normal Lymphocytes with Induced Mitochondrial Dysfunction - EPR Study.

    Science.gov (United States)

    Georgieva, Ekaterina; Zhelev, Zhivko; Aoki, Ichio; Bakalova, Rumiana; Higashi, Tatsuya

    2016-10-01

    The present study describes a new approach for direct imaging of redox status in live cells using paramagnetic spin-probes, which allows evaluation of the level of oxidative stress due to overproduction of superoxide. The method is based on redox cycling of cell/mitochondria-penetrating nitroxide radicals (e.g. mito-TEMPO) and their electron-paramagnetic resonance (EPR) contrast, which makes them useful molecular sensors for analysis of redox status and oxidative stress in cells and tissues. Oxidative stress was induced in normal human lymphocytes by treatment with 2-methoxyestradiol and rotenone (ME/Rot) at different concentrations. This combination provokes mitochondrial dysfunction, which is accompanied by overproduction of superoxide. The EPR measurements were performed in dynamics on X-Band spectrometer after addition of mito-TEMPO to cell suspensions. The intensity of the EPR signal in untreated cells decreased significantly, which indicates a conversion of paramagnetic mito-TEMPO to its non-contrast diamagnetic form (hydroxylamine - mito-TEMPOH) due to reduction. In ME/Rot-treated cells, the signal decreased more slowly and to a lower level with increasing the concentration of ME/Rot. These data indicate an induction of oxidative stress in the cells in a concentration-dependent manner. A very good positive correlation between the intensity of EPR signal of mito-TEMPO and the intracellular level of superoxide was found, analyzed by conventional dihydroethidium test (R=0.9143, pEPR imaging of the superoxide level in live cells, as well as for EPR imaging of mitochondrial dysfunction and metabolic activity, accompanied by superoxide imbalance. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  8. 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

    2017-01-30

    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. 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. 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. Prospero CRD42016037966;Pre-results. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  9. Transforaminal Anterior Release for the Treatment of Fixed Sagittal Imbalance and Segmental Kyphosis, Minimum 2-Year Follow-Up Study.

    Science.gov (United States)

    Sweet, Fred A; Sweet, Andrea

    2015-09-01

    Retrospective review of prospectively accrued patient cohort. To report minimum 2 years' follow-up after a single-surgeon series of 47 consecutive patients in whom fixed sagittal imbalance or segmental kyphosis was treated with a novel unilateral transforaminal annular release. Fixed sagittal imbalance has been treated most recently with pedicle subtraction osteotomy with great success but is associated with significant blood loss and neurologic risk. Forty-seven consecutive patients with fixed sagittal imbalance (n = 29) or segmental kyphosis (n = 18) were treated by a single surgeon with a single-level transforaminal anterior release (TFAR) to effect an opening wedge correction. Sagittal and coronal correction was performed with in situ rod contouring. An interbody cage was captured in the disc space with rod compression. Radiographic and clinical outcome analysis was performed with a minimum 2-year follow-up (range 2-7.8 years). The average increase in lordosis was 36° (range 24°-56°) in the fixed sagittal deformity group. Coronal corrections averaged 34° (range 18°-48°). The average improvement in plumb line was 13.6 cm. There were four pseudarthroses, one at the TFAR. Average blood loss was 578 mL (range 200-1,200). One patient had a transient grade 4/5 anterior tibialis weakness. There were no vascular injuries or permanent neurologic deficits. There were significant improvements in the Oswestry Disability Index (p imbalance with relatively low blood loss and was found to be neurologically safe in this single-surgeon series. Therapeutic study, Level IV (case series, no control group). Copyright © 2015 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.

  10. 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...

  11. On coding genotypes for genetic markers with multiple alleles in genetic association study of quantitative traits

    Directory of Open Access Journals (Sweden)

    Wang Tao

    2011-09-01

    Full Text Available Abstract Background In genetic association study of quantitative traits using F∞ models, how to code the marker genotypes and interpret the model parameters appropriately is important for constructing hypothesis tests and making statistical inferences. Currently, the coding of marker genotypes in building F∞ models has mainly focused on the biallelic case. A thorough work on the coding of marker genotypes and interpretation of model parameters for F∞ models is needed especially for genetic markers with multiple alleles. Results In this study, we will formulate F∞ genetic models under various regression model frameworks and introduce three genotype coding schemes for genetic markers with multiple alleles. Starting from an allele-based modeling strategy, we first describe a regression framework to model the expected genotypic values at given markers. Then, as extension from the biallelic case, we introduce three coding schemes for constructing fully parameterized one-locus F∞ models and discuss the relationships between the model parameters and the expected genotypic values. Next, under a simplified modeling framework for the expected genotypic values, we consider several reduced one-locus F∞ models from the three coding schemes on the estimability and interpretation of their model parameters. Finally, we explore some extensions of the one-locus F∞ models to two loci. Several fully parameterized as well as reduced two-locus F∞ models are addressed. Conclusions The genotype coding schemes provide different ways to construct F∞ models for association testing of multi-allele genetic markers with quantitative traits. Which coding scheme should be applied depends on how convenient it can provide the statistical inferences on the parameters of our research interests. Based on these F∞ models, the standard regression model fitting tools can be used to estimate and test for various genetic effects through statistical contrasts with the

  12. Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.

    Science.gov (United States)

    Terlizzi, Vito; Castaldo, Giuseppe; Salvatore, Donatello; Lucarelli, Marco; Raia, Valeria; Angioni, Adriano; Carnovale, Vincenzo; Cirilli, Natalia; Casciaro, Rosaria; Colombo, Carla; Di Lullo, Antonella Miriam; Elce, Ausilia; Iacotucci, Paola; Comegna, Marika; Scorza, Manuela; Lucidi, Vincenzina; Perfetti, Anna; Cimino, Roberta; Quattrucci, Serena; Seia, Manuela; Sofia, Valentina Maria; Zarrilli, Federica; Amato, Felice

    2017-04-01

    The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. To describe the genotype-phenotype correlation and the results of either in vitro and ex vivo studies performed on nasal epithelial cells (NEC) in a cohort of patients with CF carrying cystic fibrosis transmembrane conductance regulator ( CFTR ) complex alleles. We studied 70 homozygous, compound heterozygous or heterozygous for CFTR mutations: p.[Arg74Trp;Val201Met;Asp1270Asn], n=8; p.[Ile148Thr;Ile1023_Val1024del], n=5; p.[Arg117Leu;Leu997Phe], n=6; c.[1210-34TG[12];1210-12T[5];2930C>T], n=3; p.[Arg74Trp;Asp1270Asn], n=4; p.Asp1270Asn, n=2; p.Ile148Thr, n=6; p.Leu997Phe, n=36. In 39 patients, we analysed the CFTR gating activity on NEC in comparison with patients with CF (n=8) and carriers (n=4). Finally, we analysed in vitro the p.[Arg74Trp;Val201Met;Asp1270Asn] complex allele. The p.[Ile148Thr;Ile1023_Val1024del] caused severe CF in five compound heterozygous with a class I-II mutation. Their CFTR activity on NEC was comparable with patients with two class I-II mutations (mean 7.3% vs 6.9%). The p.[Arg74Trp;Asp1270Asn] and the p.Asp1270Asn have scarce functional effects, while p.[Arg74Trp;Val201Met;Asp1270Asn] caused mild CF in four of five subjects carrying a class I-II mutation in trans , or CFTR-related disorders (CFTR-RD) in three having in trans a class IV-V mutation. The p.[Arg74Trp;Val201Met;Asp1270Asn] causes significantly (pT] and a class I-II mutation had mild CF or CFTR-RD (gating activity: 18.5-19.0%). The effect of complex alleles partially depends on the mutation in trans . Although larger studies are necessary, the CFTR activity on NEC is a rapid contributory tool to classify patients with CFTR dysfunction. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  13. How large are the consequences of covariate imbalance in cluster randomized trials: a simulation study with a continuous outcome and a binary covariate at the cluster level.

    Science.gov (United States)

    Moerbeek, Mirjam; van Schie, Sander

    2016-07-11

    The number of clusters in a cluster randomized trial is often low. It is therefore likely random assignment of clusters to treatment conditions results in covariate imbalance. There are no studies that quantify the consequences of covariate imbalance in cluster randomized trials on parameter and standard error bias and on power to detect treatment effects. The consequences of covariance imbalance in unadjusted and adjusted linear mixed models are investigated by means of a simulation study. The factors in this study are the degree of imbalance, the covariate effect size, the cluster size and the intraclass correlation coefficient. The covariate is binary and measured at the cluster level; the outcome is continuous and measured at the individual level. The results show covariate imbalance results in negligible parameter bias and small standard error bias in adjusted linear mixed models. Ignoring the possibility of covariate imbalance while calculating the sample size at the cluster level may result in a loss in power of at most 25 % in the adjusted linear mixed model. The results are more severe for the unadjusted linear mixed model: parameter biases up to 100 % and standard error biases up to 200 % may be observed. Power levels based on the unadjusted linear mixed model are often too low. The consequences are most severe for large clusters and/or small intraclass correlation coefficients since then the required number of clusters to achieve a desired power level is smallest. The possibility of covariate imbalance should be taken into account while calculating the sample size of a cluster randomized trial. Otherwise more sophisticated methods to randomize clusters to treatments should be used, such as stratification or balance algorithms. All relevant covariates should be carefully identified, be actually measured and included in the statistical model to avoid severe levels of parameter and standard error bias and insufficient power levels.

  14. [Study of allelic polymorphism of (GATA)n-containing loci in parthenogenetic lizards Darevskia unisexualis (Lacertidae)].

    Science.gov (United States)

    Korchagin, V I; Martirosian, I A; Omel'chenko, A V; Darevskiĭ, I S; Ryskov, A P; Tokarskaia, O N

    2004-10-01

    The genesis of mini- and microsatellite loci, which is under extensive study in humans and some other bisexual species, have been virtually overlooked in species with clonal mode of reproduction. Earlier, using multilocus DNA fingerprinting, we have examined variability of some mini- and microsatellite DNA markers in parthenogenetic lizards from the genus Darevskia. In particular, mutant (GATA)n-restrictive DNA fragments were found in Darevskia unisexualis. In the present study, we examined intraspecific polymorphism of three cloned loci of D. unisexualis--Du323, Du215, and Du281--containing (GATA)7GAT(GATA)2, GAT(GATA)9, and (GATA)10TA(GATA) microsatellite clusters, respectively. Different levels of intrapopulation and interpopulation variability of these loci were found. Locus Du281 showed the highest polymorphism--six allelic variants (in the sample of 68 DNA specimens). Three alleles were found for locus Du215. The Du325 locus was electrophoretically invariant. The primers chosen for loci Du323, Du215, and Du281 were also used for PCR analysis of homologous loci in two presumptive parental bisexual species, D. valentini and D. nairensis. The PCR products of the corresponding loci of the parental species had approximately the same size (approximately 200 bp) as their counterparts in D. unisexualis, but the polymorphism levels of the paternal, maternal, and hybrid species were shown to be somewhat different. These data on the structure of the D. unisexualis loci provide a possibility to study genetic diversity in the parthenogenetic species D. unisexualis and other related unisexual and bisexual species of this genus, which can provide new information on the origin of parthenogenetic species and on the phylogenetic relationships in the genus Darevskia. These data can also be used for resolving problems of marking the lizard genome, which is still poorly studied.

  15. GACT: a Genome build and Allele definition Conversion Tool for SNP imputation and meta-analysis in genetic association studies.

    Science.gov (United States)

    Sulovari, Arvis; Li, Dawei

    2014-07-19

    Genome-wide association studies (GWAS) have successfully identified genes associated with complex human diseases. Although much of the heritability remains unexplained, combining single nucleotide polymorphism (SNP) genotypes from multiple studies for meta-analysis will increase the statistical power to identify new disease-associated variants. Meta-analysis requires same allele definition (nomenclature) and genome build among individual studies. Similarly, imputation, commonly-used prior to meta-analysis, requires the same consistency. However, the genotypes from various GWAS are generated using different genotyping platforms, arrays or SNP-calling approaches, resulting in use of different genome builds and allele definitions. Incorrect assumptions of identical allele definition among combined GWAS lead to a large portion of discarded genotypes or incorrect association findings. There is no published tool that predicts and converts among all major allele definitions. In this study, we have developed a tool, GACT, which stands for Genome build and Allele definition Conversion Tool, that predicts and inter-converts between any of the common SNP allele definitions and between the major genome builds. In addition, we assessed several factors that may affect imputation quality, and our results indicated that inclusion of singletons in the reference had detrimental effects while ambiguous SNPs had no measurable effect. Unexpectedly, exclusion of genotypes with missing rate > 0.001 (40% of study SNPs) showed no significant decrease of imputation quality (even significantly higher when compared to the imputation with singletons in the reference), especially for rare SNPs. GACT is a new, powerful, and user-friendly tool with both command-line and interactive online versions that can accurately predict, and convert between any of the common allele definitions and between genome builds for genome-wide meta-analysis and imputation of genotypes from SNP-arrays or deep

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

    Science.gov (United States)

    Jung, Hansang; Lee, Namju; Park, Sok

    2016-06-01

    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. 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). 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 (pimbalance 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 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.

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

    DEFF Research Database (Denmark)

    Ashraf, Bilal; Jensen, Just; Asp, Torben

    2014-01-01

    effect from F2-family pools was verified and it was shown that the underestimation of the allele effect is correctly described. The optimal design for an association study when sequencing budget would be fixed is obtained using large sample size and lower sequence depth, and using higher SNP density......F2 families are frequently used in breeding of outcrossing species, for instance to obtain trait measurements on plots. We propose to perform association studies by obtaining a matching “family genotype” from sequencing a pooled sample of the family, and to directly use allele frequencies computed...... (resulting in higher LD with causative mutations) and lower sequencing depth. Therefore, association studies using genotyping by sequencing are optimal and use low sequencing depth per sample. The developed framework for association studies using allele frequencies from sequencing can be modified for other...

  18. A study of the association of childhood asthma with HLA alleles in the population of Siliguri, West Bengal, India.

    Science.gov (United States)

    Lama, M; Chatterjee, M; Chaudhuri, T K

    2014-09-01

    Asthma is a heterogeneous disease for which a strong genetic basis is firmly established. It is a complex disorder influenced by gene-environment interaction. Human leukocyte antigen (HLA) genes have been shown to be consistently associated with asthma and its related phenotypes in various populations. The aim of this study was to determine the frequency of the selected HLA classes I and II allelic groups in asthmatic and control groups. HLA typing was performed using polymerase chain reaction-sequence-specific typing (PCR-SSP) method. The allele frequency was estimated by direct counting. Frequency of each HLA allelic group was compared between asthmatic group and control group using χ(2) test. P-value was corrected by multiplying with the number of the allelic groups studied. Odds ratio (OR) and its corresponding 95% confidence interval (CI) for each allelic group were calculated using graphpad instat 3.10. The results of this study showed a significantly higher frequency of HLA-DRB1*03 in asthmatics than in controls (11.43% vs 3.64%, OR = 3.78, 95% CI = 1.61-8.85, P = 0.0025, Pcorr  population. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Identification of a common single nucleotide polymorphism at the primer binding site of D2S1360 that causes heterozygote peak imbalance when using the Investigator HDplex Kit.

    Science.gov (United States)

    Inokuchi, Shota; Yamashita, Yasuhiro; Nishimura, Kazuma; Nakanishi, Hiroaki; Saito, Kazuyuki

    2017-11-01

    Phenomena known as null alleles and peak imbalance can occur because of mutations in the primer binding sites used for DNA typing. In these cases, an accurate statistical evaluation of DNA typing is difficult. The estimated likelihood ratio is incorrectly calculated because of the null allele and allele dropout caused by mutation-induced peak imbalance. Although a number of studies have attempted to uncover examples of these phenomena, few reports are available on the human identification kit manufactured by Qiagen. In this study, 196 Japanese individuals who were heterozygous at D2S1360 were genotyped using an Investigator HDplex Kit with optimal amounts of DNA. A peak imbalance was frequently observed at the D2S1360 locus. We performed a sequencing analysis of the area surrounding the D2S1360 repeat motif to identify the cause for peak imbalance. A point mutation (G>A transition) 136 nucleotides upstream from the D2S1360 repeat motif was discovered in a number of samples. The allele frequency of the mutation was 0.0566 in the Japanese population. Therefore, human identification or kinship testing using the Investigator HDplex Kit requires caution because of the higher frequency of single nucleotide polymorphisms at the primer binding site of D2S1360 locus in the Japanese population.

  20. 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.

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

    Science.gov (United States)

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

    2016-06-01

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

  2. The interaction effect of effort-reward imbalance and overcommitment on hypertension among Chinese workers: findings from SHISO study.

    Science.gov (United States)

    Xu, Weixian; Yu, Haiyi; Hang, Juan; Gao, Wei; Zhao, Yiming; Guo, Lijun

    2013-12-01

    No previous studies investigated the interaction of effort-reward imbalance (ERI) and overcommitment on blood pressure. Our aim was to investigate associations of ERI and overcommitment (and their interaction) with blood pressure and hypertension within a Chinese population. Seven hundred thirty-four participants from the Stress and Health in Shenzhen Workers study completed a demographics, job stressor and risk factor questionnaire, and their blood pressure was measured by mercury sphygmomanometers. Risk factors for blood pressure were analyzed by multiple linear regression and risk factors for hypertension by Poisson regression. Overcommitment was associated with diastolic blood pressure after adjustment for confounders and ERI among men (β = 0.17, P controlling for overcommitment, ERI remained significantly associated with hypertension risk (PR = 2.38, 95% CI 1.53-3.71). When high overcommitment and high ERI was combined, hypertension risk was highest (adjusted PR = 2.99, 95% CI 1.82-4.91, adjusted synergy index 5.85). The interaction was significant when it was tested by an interaction term in the regression (P < 0.001). The interaction effect of overcommitment and ERI on hypertension was independent and synergistic. © 2013 Wiley Periodicals, Inc.

  3. Effort-reward imbalance and quality of life of healthcare workers in military hospitals: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Tzeng Dong-Sheng

    2012-09-01

    Full Text Available Abstract Background Taiwan’s National Defense Bureau has been merging its hospitals and adjusting hospital accreditation levels since the beginning of 2006. These changes have introduced many stressors to the healthcare workers in these hospitals. This study investigates the association between job stress, psychological morbidity and quality of life in healthcare workers in three military hospitals. Methods We posted surveys to 1269 healthcare workers in three military hospitals located in southern Taiwan. The surveys included the General Health Questionnaire (GHQ, the World Health Organization Quality of Life Questionnaire (WHOQOL-BREF, and the Effort-Reward Imbalance (ERI Questionnaire. High effort-reward (ER ratio and overcommitment were defined when scores fell into the upper tertile of the total distribution. Results The survey was completed by 791 healthcare workers. On average, women reported a higher ERI than men. High ERI was associated with younger age, higher psychological morbidity, and poor physical and psychological QOL domains in this population. High ER ratio and high overcommitment were associated with psychological morbidity and poor QOL in both sexes. However, high ER ratio was not significantly associated with the social QOL domain in either sexes or the physical QOL domain in males. Conclusions There was a clear association between ERI and QOL in the healthcare workers in the military hospitals under reorganization and accreditation in this study. We found ER ratio and overcommitment to be suitable indicators of job stress.

  4. Association between diabetes type 1 and DQB1 alleles in a case-control study conducted in Montevideo, Uruguay.

    Science.gov (United States)

    Mimbacas, Adriana; Pérez-Bravo, Francisco; Hidalgo, Pedro C; Javiel, Gerardo; Pisciottano, Carmen; Grignola, Rosario; Jorge, Ana María; Gallino, Juan Pablo; Gasagoite, Jackeline; Cardoso, Horacio

    2003-03-31

    We studied HLA DQB1 allele frequencies and the relative risk (RR) of various genotypes in 72 type 1 diabetic patients and 40 control individuals in Uruguay. This is a tri-racial (Caucasian, Black and Indo-American) mixed population. The products of the polymerase chain reaction amplifications were hybridized with oligonucleotides by allele-specific oligonucleotide reverse or dot blot methods. Significant differences between these two groups were observed only for allele DQB1*0302 (35%, RR = 7.34, P<0.001). The frequency of the alleles carrying a non-aspartic acid residue at position 57 was significantly higher in the diabetic patients (85 vs 53%, P<0.001). In contrast, the frequency of Asp alleles was negatively associated with type 1 diabetes (RR = 0.20, P<0.001). The genotype DQB1*0302/DQB1*0201 (33%, RR = 5.41, P<0.05) was positively associated with this disease. The genotype frequencies associated with type 1 diabetes in our population were significantly different from what is known for Caucasian and Black populations as well as compared with another admixed population, from Chile.

  5. Options on capacity imbalance

    International Nuclear Information System (INIS)

    Roggen, M.

    2002-01-01

    Since the start of this year, the Dutch energy company Nuon has been using a computer system to formulate real-time responses to national capacity imbalances in the electricity supply market. The work earns Nuon a fixed fee from TenneT (Dutch Transmission System Operator) and ensures a more stable imbalance price for everyone. The key to success has been the decision to start the project from scratch [nl

  6. Bias, precision and statistical power of analysis of covariance in the analysis of randomized trials with baseline imbalance: a simulation study

    Science.gov (United States)

    2014-01-01

    Background Analysis of variance (ANOVA), change-score analysis (CSA) and analysis of covariance (ANCOVA) respond differently to baseline imbalance in randomized controlled trials. However, no empirical studies appear to have quantified the differential bias and precision of estimates derived from these methods of analysis, and their relative statistical power, in relation to combinations of levels of key trial characteristics. This simulation study therefore examined the relative bias, precision and statistical power of these three analyses using simulated trial data. Methods 126 hypothetical trial scenarios were evaluated (126 000 datasets), each with continuous data simulated by using a combination of levels of: treatment effect; pretest-posttest correlation; direction and magnitude of baseline imbalance. The bias, precision and power of each method of analysis were calculated for each scenario. Results Compared to the unbiased estimates produced by ANCOVA, both ANOVA and CSA are subject to bias, in relation to pretest-posttest correlation and the direction of baseline imbalance. Additionally, ANOVA and CSA are less precise than ANCOVA, especially when pretest-posttest correlation ≥ 0.3. When groups are balanced at baseline, ANCOVA is at least as powerful as the other analyses. Apparently greater power of ANOVA and CSA at certain imbalances is achieved in respect of a biased treatment effect. Conclusions Across a range of correlations between pre- and post-treatment scores and at varying levels and direction of baseline imbalance, ANCOVA remains the optimum statistical method for the analysis of continuous outcomes in RCTs, in terms of bias, precision and statistical power. PMID:24712304

  7. 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.

  8. The gender imbalance in academic medicine: a study of female authorship in the United Kingdom.

    Science.gov (United States)

    Sidhu, Reena; Rajashekhar, Praveen; Lavin, Victoria L; Parry, Joanne; Attwood, James; Holdcroft, Anita; Sanders, David S

    2009-08-01

    A shortfall exists of female doctors in senior academic posts in the United Kingdom. Career progression depends on measures of esteem, including publication in prestigious journals. This study investigates gender differences in first and senior authorship in six peer-reviewed British journals and factors that are associated with publication rates. Data was collected on United Kingdom first and senior authors who had published in the British Medical Journal, Lancet, British Journal of Surgery, Gut, British Journal of Obstetrics and Gynaecology and the Archives of Diseases in Childhood. Authorship and gender were quantified for 1970, 1980, 1990, 2000 and 2004 (n=6457). In addition, selected questions from the Athena Survey of Science Engineering and Technology (ASSET2006), web-based doctor's self-report of publications were also analysed (n=1162). Female first authors increased from 10.5% in 1970 to 36.5% in 2004 (p<0.001) while female senior authors only increased from 12.3% to 16.5% (p=0.046). Within individual journals, the largest rise was in British Journal of Obstetric and Gynaecology with 4.5- and 3-fold increases for first and senior authors, respectively. In contrast, female senior authors marginally declined in Gut and Lancet by 2.8% and 2.2%, respectively. ASSET2006 identified that female respondents who were parents were less likely to have publications as sole (p=0.02) and joint authors (p<0.001) compared to male respondents. Female respondents with care responsibilities for parents/partner also had less publications as lead authors compared to those without carer responsibilities (p<0.001). The increase in UK female first authors is encouraging. In contrast, there is considerable lag and in some specialties a decline in female senior authors. Factors that could narrow the gender gap in authorship should be sought and addressed.

  9. Imbalance of demand and supply for regionalized injury services: a case study in Greece.

    Science.gov (United States)

    Petridou, E; Gatsoulis, N; Dessypris, N; Skalkidis, Y; Voros, D; Papadimitriou, Y; Trichopoulos, D

    2000-04-01

    To study regionalized acute injury services on an island with high seasonal fluctuation of the population at risk. Of 9432 individuals with traumatic injuries who contacted the hospital during 1996, 1204 were hospitalized. Information was recorded on several injury-related clinical and sociodemographic variables. Possible residual disabilities, 6 months after the injury, were also assessed. Injury Severity Score (ISS), clinical outcome and duration of hospitalization, odds of transfer to other institutions. Non-residents, whether Greek or foreign nationals are hospitalized for shorter periods. Motor vehicle accident victims are hospitalized on average for 15% longer. Injury victims admitted on a Friday are hospitalized for a longer period. Finally, ISS is a powerful positive predictor of duration of hospitalization. Male injury victims, those injured during late night or early morning and patients injured in July are more likely to be transferred to another institution. Age of the patient and ISS are powerful and independent predictors of an unfavourable outcome. The extra demand created by injured tourists is reflected in the seasonality of admissions for injuries. The district hospital of Kerkyra cannot be considered as deficient in comparison to other district hospitals. Nevertheless, the suboptimal function of the hospital, with respect to injuries, is reflected in the high proportion of injured patients transferred when the injury occurs outside the full working schedule of the hospital. Patients with burns, bone fractures or dislocations and head injuries or concussion are transferred with an overall frequency of about 15%--too high to be compatible with a well functioning secondary care institution.

  10. Frequency of the CCRD32 allele in Brazilians: a study in colorectal cancer and in HTLV-I infection

    Directory of Open Access Journals (Sweden)

    Pereira Rinaldo W.

    2000-01-01

    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.

  11. Effort-reward imbalance is associated with the metabolic syndrome — Findings from the Mannheim Industrial Cohort Study (MICS)

    NARCIS (Netherlands)

    Schmidt, B.; Bosch, J.A.; Jarczok, M.N.; Herr, R.M.; Loerbroks, A.; van Vianen, A.E.M.; Fischer, J.E.

    2015-01-01

    Background/objectives: Job stress is a predictor of cardiovascular disease incidence and mortality and the metabolic syndrome (MetS) represents one of the key pathways potentially underlying those associations. Effort-reward imbalance (ERI) represents one of the most influential theoretical work

  12. Effort--reward imbalance and medically certified absence for mental health problems: a prospective study of white-collar workers.

    Science.gov (United States)

    Ndjaboué, R; Brisson, C; Vézina, M; Blanchette, C; Bourbonnais, R

    2014-01-01

    Little is known about the effects of psychosocial work factors on objectively assessed mental health problems leading to medically certified absence. Only one study has evaluated the prospective effects of effort-reward imbalance (ERI) at work with regards to this outcome. The present study aimed to evaluate the effects of ERI on the incidence of medically certified absence for mental health problems. The study included 2086 white-collar workers (63.3% women) employed in public organisations in Quebec city. Participants were followed over a 9-year period. Medical absences from work were collected from employers' files and psychosocial factors were measured using the ERI questionnaire. Cox regression models were used to estimate the incidence of certified sickness absence due to mental health problems that lasted 5 workdays or more, while controlling for confounders. Workers exposed to ERI had a higher risk of a first spell of medically certified absence for mental health problems (HR=1.38, 95% CI 1.08 to 1.76) compared with unexposed workers. Low reward was significantly associated with a high risk among men (HR=2.80, 95% CI 1.34 to 5.89) but not in women. (HR=1.24, 95% CI 0.90 to 1.73). Effort at work had no effect on certified absence. All these effects were adjusted for potential confounders. ERI and low reward at work were prospectively associated with medically certified absence for mental health problems. These effects seem to differ by gender. Primary prevention that is aimed at reducing these stressors should be considered to help reduce the incidence of such severe mental health problems.

  13. Association Study of HLA-DQB1*0602 Allele in Iranian Patients with Narcolepsy.

    Science.gov (United States)

    Geremew, Demeke; Rahimi-Golkhandan, Ania; Sadeghniiat-Haghighi, Khosro; Shakiba, Yadollah; Khajeh-Mehrizi, Ahmad; Ansaripour, Bita; Izad, Maryam

    2017-10-01

    Narcolepsy is a rare, disabling disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis. Several studies demonstrated its association with HLA-DQB1*0602 in various ethnic groups. Our study aimed to determine the prevalence of HLA-DQB1*0602 allele in Iranian patients with narcolepsy and assess its predictive parameters for diagnosing narcolepsy. In addition, car accidents and job problems were assessed among narcoleptic patients. We studied 44 narcoleptic patients, 30 patients with other types of excessive daytime sleepiness (EDS)  and 50 healthy age and sex matched individuals in this case-control study. Patients and controls filled out a questionnaire including items about car accidents due to sleepiness and job problems. International classification of sleep disorders-2 criteria was used as the gold standard for diagnosis of narcolepsy. The DNAs isolated from whole blood samples were collected from the patients and controls to assess the presence of HLA-DQB1*0602. The results showed that HLA DQB1*0602 was present in 4 (8%) individual of controls and 20 (45.5%) patients with higher prevalence in patients with cataplexy (78.9%) than patients without cataplexy (p<0.001). The sensitivities of the DQB1*0602 for diagnosing narcolepsy with cataplexy and narcolepsy without cataplexy were 78.9 and 20; specificities were 88 and 72.4, respectively. 18.2% of patients had car accidents due to sleepiness and 68.2% suffered from job problems. Our study shows that evaluation of DQB1*0602 in patients suspected to narcolepsy could be helpful especially in complex cases with atypical cataplexy and indistinguishable multiple sleep latency test MSLT results. Moreover, high rates of car accidents and job problems are found among narcoleptic patients.

  14. Job strain, effort-reward imbalance and employee well-being: a large-scale cross-sectional study.

    Science.gov (United States)

    de Jonge, J; Bosma, H; Peter, R; Siegrist, J

    2000-05-01

    This study investigated the effects of the Job Demand-Control (JD-C) Model and the Effort-Reward Imbalance (ERI) Model on employee well-being. A cross-sectional survey was conducted comprising a large representative sample of 11,636 employed Dutch men and women. Logistic regression analyses were used. Controlling for job sector, demographic characteristics (including educational level) and managerial position, employees reporting high job demands (i.e. psychological and physical demands) and low job control had elevated risks of emotional exhaustion, psychosomatic and physical health complaints and job dissatisfaction (odds ratios ranged from 2.89 to 10.94). Odds ratios were generally higher in employees reporting both high (psychological and physical) efforts and low rewards (i.e. poor salary, job insecurity and low work support): they ranged from 3.23 to 15.43. Furthermore, overcommitted people had higher risks of poor well-being due to a high effort-low reward mismatch (ORs: 3.57-20.81) than their less committed counterparts (ORs: 3.01-12.71). Finally, high efforts and low occupational rewards were stronger predictors of poor well-being than low job control when both job stress models were simultaneously adjusted. In conclusion, our findings show independent cumulative effects of both the JD-C Model and the ERI Model on employee well-being and are not significantly different in men and women as well as in young and old people. In particular, high (psychological and physical) efforts and low rewards adversely affected employee well-being. Preliminary findings also indicate excess risks of poor well-being in overcommitted persons suffering from high cost--low gain conditions at work.

  15. Effort-reward imbalance and perceived quality of patient care: a cross-sectional study among physicians in Germany

    Directory of Open Access Journals (Sweden)

    Adrian Loerbroks

    2016-04-01

    Full Text Available Abstract Background Work stress may impair physicians’ ability to provide high quality patient care. Prior research remains however sparse and has insufficiently explored explanations for this relationship. It has been suggested that physicians’ poor mental health is one potential explanatory factor. We drew on a well-established model to measure work stress (the effort-reward imbalance [ERI] model in order to test this hypothesis. Further, to address another research gap and to potentially inform the development of better-targeted interventions, we aimed to examine associations of individual ERI constructs with the quality of care. Methods We used cross-sectional data, which had been collected in 2014 among 416 physicians in Germany. ERI constructs (i.e. effort, reward, the ERI ratio, and overcommitment were measured by the established 23-item questionnaire. Physicians’ perceptions of quality of care were assessed by a six-item instrument inquiring after poor care practices or attitudes. Physicians’ mental health was operationalized by the state scale of the Spielberger's State-Trait Depression Scales. We used both continuous and categorized dependent and independent variables in multivariable linear and logistic regression analyses. Results Both an increasing ERI ratio and increasing effort were associated with poorer quality of care while increasing rewards were related to better care. Physicians’ depressive symptoms did not affect these associations substantially. Associations with overcommitment were weak and attenuated to non-significant levels by correction for depressive symptoms. The level of overcommitment did not modify associations between the ERI ratio and quality of care. Conclusions Our study suggests that high work-related efforts and low rewards are associated with reports of poorer patient care among physicians, irrespectively of physicians’ depressive symptoms. Quality of patient care may thus be improved by

  16. Working conditions and effort-reward imbalance of German physicians in Sweden respective Germany: a comparative study.

    Science.gov (United States)

    Ohlander, Johan; Weigl, Matthias; Petru, Raluca; Angerer, Peter; Radon, Katja

    2015-05-01

    Work stress among physicians is a growing concern in various countries and has led to migration. We compared the working conditions and the work stress between a migrated population of German physicians in Sweden and a population of physicians based in Germany. Additionally, specific risk factors for work stress were examined country wise. Using a cross-sectional design, 85 German physicians employed in Sweden were surveyed on working conditions and effort-reward imbalance and compared with corresponding data on 561 physicians working in Germany. Multiple linear regression analyses were applied on both populations separately to model the associations between working conditions and effort-reward ratio (ERR), adjusted for a priori confounders. German physicians in Sweden had a significantly lower ERR than physicians in Germany: mean (M) = 0.47, standard deviation (SD) = 0.24 vs. M = 0.80, SD = 0.35. Physicians in Sweden worked on average 8 h less per week and reported higher work support and responsibility. Multivariate analyses showed in both populations a negative association between work support and the ERR (β = -0.148, 95% CI -0.215 to (-0.081) for physicians in Sweden and β = -0.174, 95% CI -0.240 to (-0.106) for physicians in Germany). Further significant associations with the ERR were found among physicians in Sweden for daily breaks (β = -0.002, 95% CI -0.004 to (-0.001)) and among physicians in Germany for working hours per week (β = 0.006, 95% CI 0.002-0.009). Our findings show substantial differences in work stress and working conditions in favor of migrated German physicians in Sweden. To confirm our results and to explain demonstrated differences in physicians' work stress, longitudinal studies are recommended.

  17. Imbalance in the diurnal salivary testosterone/cortisol ratio in men with severe obstructive sleep apnea: an observational study.

    Science.gov (United States)

    Ghiciuc, Cristina Mihaela; Dima-Cozma, Lucia Corina; Bercea, Raluca Mihaela; Lupusoru, Catalina Elena; Mihaescu, Traian; Cozma, Sebastian; Patacchioli, Francesca Romana

    2016-01-01

    The complex relationship between sleep disorders and hormones could lead to alterations in the production of cortisol and testosterone in obstructive sleep apnea (OSA) patients. The purpose of this study was to determine the diurnal trajectories of salivary free-testosterone, free-cortisol and their ratio (T/C). Ten subjects newly diagnosed with OSA, based on nocturnal polysomnography evaluation and excessive daytime sleepiness, and seven matched controls were consecutively recruited. Cortisol and testosterone were measured in salivary samples collected upon awakening, at noon and in the evening. The psychometric evaluation of anxiety/depression and referred sexual function disturbances was performed to evaluate the presence of neuropsychological comorbidities. The main finding was that OSA subjects displayed hypocortisolism upon awakening and a significant reduction in testosterone concentration in the evening in comparison with the control group, which has maintained the physiological testosterone and cortisol diurnal fluctuation, with higher hormone concentrations in the morning and lower concentrations in the evening. The use of data from multiple diurnal measurements rather than a single point allowed the detection of T/C ratio changes of opposite signs at the beginning and end of the day: the OSA subjects had a higher T/C ratio than the controls in the morning, while their T/C ratio was significantly lower than that of the controls in the evening. The imbalances in the anabolic-catabolic diurnal equilibrium suggest that OSA is associated with a dysregulation of the hypothalamic-pituitary-adrenal and hypothalamic-pituitary-gonadal axes, potentially an underlying cause of some of the neuropsychological comorbidities observed in OSA patients. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  18. Study on the association of BoLA-DRB3.2 alleles with clinical ...

    African Journals Online (AJOL)

    USER

    2010-04-12

    Apr 12, 2010 ... analysis (HA) in a non-denaturing gel, successfully detected the resistant genotype to ... PHS, polish heath sheep; PLS polish lowland sheep; SCC, ... of the MHC genes and their possible role in disease ... alleles with clinical mastitis in Sarabi and Iranian Holstein cattle, ..... Nomenclature for factors of the.

  19. A FDG-PET Study of Metabolic Networks in Apolipoprotein E ε4 Allele Carriers.

    Directory of Open Access Journals (Sweden)

    Zhijun Yao

    Full Text Available Recently, some studies have applied the graph theory in brain network analysis in Alzheimer's disease (AD and Mild Cognitive Impairment (MCI. However, relatively little research has specifically explored the properties of the metabolic network in apolipoprotein E (APOE ε4 allele carriers. In our study, all the subjects, including ADs, MCIs and NCs (normal controls were divided into 165 APOE ε4 carriers and 165 APOE ε4 noncarriers. To establish the metabolic network for all brain regions except the cerebellum, cerebral glucose metabolism data obtained from FDG-PET (18F-fluorodeoxyglucose positron emission tomography were segmented into 90 areas with automated anatomical labeling (AAL template. Then, the properties of the networks were computed to explore the between-group differences. Our results suggested that both APOE ε4 carriers and noncarriers showed the small-world properties. Besides, compared with APOE ε4 noncarriers, the carriers showed a lower clustering coefficient. In addition, significant changes in 6 hub brain regions were found in between-group nodal centrality. Namely, compared with APOE ε4 noncarriers, significant decreases of the nodal centrality were found in left insula, right insula, right anterior cingulate, right paracingulate gyri, left cuneus, as well as significant increases in left paracentral lobule and left heschl gyrus in APOE ε4 carriers. Increased local short distance interregional correlations and disrupted long distance interregional correlations were found, which may support the point that the APOE ε4 carriers were more similar with AD or MCI in FDG uptake. In summary, the organization of metabolic network in APOE ε4 carriers indicated a less optimal pattern and APOE ε4 might be a risk factor for AD.

  20. The Study of Morphological Traits and Identification of Self-incompatibility Alleles in Almond Cultivars and Genotypes

    Directory of Open Access Journals (Sweden)

    Mousa Rasouli

    2017-12-01

    Full Text Available The evaluation of an almond collection using morphological variables and identification of self-incompatibility genotype  is useful for selecting pollinizers and for the design of crossing in almond breeding programs. In this study, important morphological traits and self-incompatibilities in 71 almond cultivars and genotypes were studied. Simple and multiplex specific PCR analyses were used in order to identify self-incompatibility alleles. Based on the results, cultivars and genotypes including ‘Dir Ras–e-Savojbolagh’, ‘D-124’, ‘D-99’, ‘Shahrood 12’, ‘Tuono’, ‘Nonpareil’, ‘Price’, ‘Mirpanj-e-Tehran’, ‘Pakotahe-e- Taleghan’, ‘V-13-34’, ‘V-16-8, ‘V-11-10’, ‘Zarghan 10’, ‘Uromiyeh 68’, ‘Barg dorosht-e-Hamedan’ and ‘Yazd 60’ were late flowering and had the highest quality of nut and kernel characters. The result of the PCR method using combined primers AS1II and AmyC5R showed amplification of ten self-incompatibility alleles (S1, S2, S3, S5, S6, S7, S8, S10, S12,and S unknown allele and three Sfalleles. Moreover, S1 had the highest frequencies in comparison with other known S-alleles. Also, unknown alleles with different sizes were detected and 58 new bands were found in some cultivars.

  1. A microsatellite study for determination of allelic variation of Kurdish population-Kurdistan region-Iraq

    Science.gov (United States)

    Murad, Media J.; Amin, Bushra K.

    2017-09-01

    The purpose of this study was detecting genetic variations for the Kurdish population in Kurdistan region-Iraq, using fifteen autosomal STR loci. Buccal swabs were collected and depositing on Nucleic Card (Copan, Italia Spa) from 302 healthy unrelated Iraqi Kurds in five provinces of Kurdistan region-Iraq. Fifteen autosomal STR loci are D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA and Amelogenin included in the AmpFlSTR Identifiler® Direct PCR Amplification Kit (Applied Biosystems, Foster City, CA, USA). No significant departure from Hardy Weinberg Equilibrium (HWE) expectations were observed in 10 from 15 STR loci analyzed (a 5% significance level was taken). The exceptions were the CSF1PO, D3S1358, D13S317, D16S539 and D2S1338 loci. Statistical parameters of forensic efficiencies were estimated for the loci, based on allelic frequencies. The mean of observed heterozygosity, expected heterozygosity and PIC values across the 15 loci were 0.762, 0.797 and 0.768 respectively, indicating high gene diversity. The combined probability of exclusion, power of discrimination, probability of matching value for all the 15 STR loci were 0.9999968; 0.9999999 and 4.966×10-17, respectively. These parameters indicated the importance of the loci for forensic genetic purposes and paternity testing.

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

    OpenAIRE

    Chen, Lingyuan

    2009-01-01

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

  3. On gradiometer imbalance

    NARCIS (Netherlands)

    Uzunbajakau, S.A.; Rijpma, A.P.; Brake, ter H.J.M.; Peters, M.J.

    2006-01-01

    We present methods to compute the imbalance in a gradiometer of arbitrary shape due to imperfections in its geometry, eddy currents induced in the radio-frequency interference shield, and screening currents induced in the modules of the superconducting quantum interference devices (SQUIDs). As an

  4. Where Is the Imbalance?

    Science.gov (United States)

    Chan, John H. F.

    2009-01-01

    For many researchers, the concept of a power imbalance is central to the understanding of bullying, and its presence in the bully-victim relationship is a prerequisite condition that needs to be fulfilled before bullying is deemed to have taken place. Despite the concept's central importance in many definitions of bullying, the nature of the power…

  5. The effect of effort-reward imbalance on the health of childcare workers in Hamburg: a longitudinal study.

    Science.gov (United States)

    Koch, Peter; Kersten, Jan Felix; Stranzinger, Johanna; Nienhaus, Albert

    2017-01-01

    The prevalence of effort-reward imbalance (ERI) among qualified childcare workers in Germany is currently estimated at around 65%. High rates of burnout and musculoskeletal symptoms (MS) have also been reported for this group. Previous longitudinal studies show inconsistent results with regard to the association between ERI and MS. As yet, no longitudinal studies have been conducted to investigate the association between ERI and burnout or MS in childcare workers. This study aims to investigate the extent to which a relationship between ERI and MS or burnout can be observed in childcare workers in Germany on a longitudinal basis. In 2014 childcare workers ( N  = 199, response rate: 57%) of a provider of facilities for children and youth in Hamburg were asked about stress and health effects in the workplace. Follow-up was completed one year later ( N  = 106, follow-up rate: 53%) For the baseline assessment, ERI was determined as the primary influencing factor. Data on MS was recorded using the Nordic questionnaire, and burnout using the personal burnout scale of the Copenhagen Burnout Inventory (CBI). The statistical analysis was carried out using multivariate linear and logistic regression. At baseline ERI was present in 65% of the sample population. The mean burnout score at the time of follow-up was 53.7 (SD: 20.7); the prevalence of MS was between 19% and 62%. ERI was identified as a statistically significant factor for MS, after adjusting especially for physical stress (lower back: OR 4.2; 95% CI: 1.14 to 15.50, neck: OR 4.3; 95% CI: 1.25 to 15.0, total MS: OR 4.0; 95% CI: 1.20 to 13.49). With regard to burnout, a relative increase of 10% in the ERI ratio score increased the burnout score by 1.1 points ( p  = 0.034). ERI was revealed to be a major factor in relation to MS and burnout in childcare workers. Based on this observation worksite interventions on the individual and organizational level should be introduced in order to prevent ERI.

  6. Allele Age Under Non-Classical Assumptions is Clarified by an Exact Computational Markov Chain Approach.

    Science.gov (United States)

    De Sanctis, Bianca; Krukov, Ivan; de Koning, A P Jason

    2017-09-19

    Determination of the age of an allele based on its population frequency is a well-studied problem in population genetics, for which a variety of approximations have been proposed. We present a new result that, surprisingly, allows the expectation and variance of allele age to be computed exactly (within machine precision) for any finite absorbing Markov chain model in a matter of seconds. This approach makes none of the classical assumptions (e.g., weak selection, reversibility, infinite sites), exploits modern sparse linear algebra techniques, integrates over all sample paths, and is rapidly computable for Wright-Fisher populations up to N e  = 100,000. With this approach, we study the joint effect of recurrent mutation, dominance, and selection, and demonstrate new examples of "selective strolls" where the classical symmetry of allele age with respect to selection is violated by weakly selected alleles that are older than neutral alleles at the same frequency. We also show evidence for a strong age imbalance, where rare deleterious alleles are expected to be substantially older than advantageous alleles observed at the same frequency when population-scaled mutation rates are large. These results highlight the under-appreciated utility of computational methods for the direct analysis of Markov chain models in population genetics.

  7. Thermoelectric charge imbalance in superconducting aluminum

    International Nuclear Information System (INIS)

    Heidel, D.F.; Garland, J.C.

    1981-01-01

    The charge imbalance voltage produced in superconducting aluminum by the presence of a temperature gradient and an electric current has been studied over the temperature range 0.5-1.2 K. Measurements were obtained of the magnitude and temperature dependence of the charge imbalance voltage of seven samples, two of which contained magnetic impurities. The data are compared with recent theoretical models of the effect

  8. HLA Class II Allele, Haplotype, and Genotype Associations with Type 1 Diabetes in Benin: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Kaossarath A. Fagbemi

    2017-01-01

    Full Text Available Background. Several studies have reported the implication of HLA-DR/DQ loci in the susceptibility to type 1 diabetes (T1D. Since no such study has yet been performed in Benin, this pilot one aimed at assessing HLA class II allele, haplotype, and genotype associations with T1D. Material and Methods. Class II HLA genotyping was performed in 51 patients with T1D and 51 healthy unrelated controls by means of the PCR-SSP method. The diagnosis of T1D was set up according to American Diabetes Association criteria. Odds ratio (OR and its 95% confidence interval (95% CI were calculated to assess the associations between T1D and HLA alleles, haplotypes, and genotypes. Results. Participants were aged 1–24 years. T1D was significantly associated with DR3, DQA1∗05:01, DQB1∗02:01, and DR3-DR4. No significant associations were observed with DR4, DQB1∗03:02, and DQB1∗06:02. Conclusion. Certain HLA class II alleles, haplotypes, and genotypes were related to T1D and may be used as genetic susceptibility markers to T1D in Benin.

  9. Influence of allelic variations in relation to norepinephrine and mineralocorticoid receptors on psychopathic traits: a pilot study

    Directory of Open Access Journals (Sweden)

    Guillaume Durand

    2018-03-01

    Full Text Available Background Past findings support a relationship between abnormalities in the amygdala and the presence of psychopathic traits. Among other genes and biomarkers relevant to the amygdala, norepinephrine and mineralocorticoid receptors might both play a role in psychopathy due to their association with traits peripheral to psychopathy. The purpose is to examine if allelic variations in single nucleotide polymorphisms related to norepinephrine and mineralocorticoid receptors play a role in the display of psychopathic traits and executive functions. Methods Fifty-seven healthy participants from the community provided a saliva sample for SNP sampling of rs5522 and rs5569. Participants then completed the Psychopathic Personality Inventory–Short Form (PPI-SF and the Tower of Hanoi. Results Allelic variations of both rs5522 and rs5569 were significant when compared to PPI-SF total score and the fearless dominance component of the PPI-SF. A significant result was also obtained between rs5522 and the number of moves needed to complete the 5-disk Tower of Hanoi. Conclusion This pilot study offers preliminary results regarding the effect of allelic variations in SNPs related to norepinephrine and mineralocorticoid receptors on the presence of psychopathic traits. Suggestions are provided to enhance the reliability and validity of a larger-scale study.

  10. Detecting imbalanced expression of SNP alleles by minisequencing on microarrays

    Directory of Open Access Journals (Sweden)

    Dahlgren Andreas

    2004-10-01

    Full Text Available Abstract Background Each of the human genes or transcriptional units is likely to contain single nucleotide polymorphisms that may give rise to sequence variation between individuals and tissues on the level of RNA. Based on recent studies, differential expression of the two alleles of heterozygous coding single nucleotide polymorphisms (SNPs may be frequent for human genes. Methods with high accuracy to be used in a high throughput setting are needed for systematic surveys of expressed sequence variation. In this study we evaluated two formats of multiplexed, microarray based minisequencing for quantitative detection of imbalanced expression of SNP alleles. We used a panel of ten SNPs located in five genes known to be expressed in two endothelial cell lines as our model system. Results The accuracy and sensitivity of quantitative detection of allelic imbalance was assessed for each SNP by constructing regression lines using a dilution series of mixed samples from individuals of different genotype. Accurate quantification of SNP alleles by both assay formats was evidenced for by R2 values > 0.95 for the majority of the regression lines. According to a two sample t-test, we were able to distinguish 1–9% of a minority SNP allele from a homozygous genotype, with larger variation between SNPs than between assay formats. Six of the SNPs, heterozygous in either of the two cell lines, were genotyped in RNA extracted from the endothelial cells. The coefficient of variation between the fluorescent signals from five parallel reactions was similar for cDNA and genomic DNA. The fluorescence signal intensity ratios measured in the cDNA samples were compared to those in genomic DNA to determine the relative expression levels of the two alleles of each SNP. Four of the six SNPs tested displayed a higher than 1.4-fold difference in allelic ratios between cDNA and genomic DNA. The results were verified by allele-specific oligonucleotide hybridisation and

  11. Trunk imbalance in adolescent idiopathic scoliosis.

    Science.gov (United States)

    Fortin, Carole; Grunstein, Erin; Labelle, Hubert; Parent, Stefan; Ehrmann Feldman, Debbie

    2016-06-01

    Trunk imbalance (ie, frontal trunk shift measured with a plumb line from C7 to S1) is part of the clinical evaluation in adolescent idiopathic scoliosis (AIS), but its prevalence and relationship with scoliosis, back pain, and health-related factors are not well documented. The principal objectives are to document trunk imbalance prevalence and to explore the association between trunk imbalance and the following factors: Cobb angle, type of scoliosis, back pain, function, mental health, and self-image. The secondary objective is to determine back pain prevalence and the relationship between back pain and each of the following: Cobb angle, function, mental health, and self-image. This is a cross-sectional study in a scoliosis clinic of a tertiary university hospital center. The sample includes youth with AIS (N=55). The outcome measures were trunk imbalance prevalence and magnitude, and back pain prevalence and intensity using the Numeric Pain Rating Scale (NPRS) and the Scoliosis Research Society-22 (SRS-22) pain score, and the function, self-image, and mental health domains of the SRS-22. Trunk imbalance and back pain were assessed in 55 patients with AIS (Cobb angle: 10-60°). Patients completed the SRS-22 questionnaire and the NPRS. Correlations were done between trunk imbalance and scoliosis (Cobb angle, type of scoliosis), back pain (NPRS and SRS-22 pain score), and health-related factors using Pearson correlation coefficients (r) and logistic regression models. Trunk imbalance prevalence is 85% and back pain prevalence is 73%. We found fair to moderate significant positive correlation between trunk imbalance and Cobb angle (r=0.32-0.66, pself-image, or type of scoliosis. Lower self-reported pain significantly correlated with lower Cobb angles (r=0.29, p=.03), higher function (r=0.55, p=.000), higher self-image (r=0.44, p=.001), and better mental health (r=0.48, p=.000). There was a trend for trunk imbalance to be related with lower pain in logistic regression

  12. Probing Lipid Bilayers under Ionic Imbalance.

    Science.gov (United States)

    Lin, Jiaqi; Alexander-Katz, Alfredo

    2016-12-06

    Biological membranes are normally under a resting transmembrane potential (TMP), which originates from the ionic imbalance between extracellular fluids and cytosols, and serves as electric power storage for cells. In cell electroporation, the ionic imbalance builds up a high TMP, resulting in the poration of cell membranes. However, the relationship between ionic imbalance and TMP is not clearly understood, and little is known about the effect of ionic imbalance on the structure and dynamics of biological membranes. In this study, we used coarse-grained molecular dynamics to characterize a dipalmitoylphosphatidylcholine bilayer system under ionic imbalances ranging from 0 to ∼0.06 e charges per lipid (e/Lip). We found that the TMP displayed three distinct regimes: 1) a linear regime between 0 and 0.045 e/Lip, where the TMP increased linearly with ionic imbalance; 2) a yielding regime between ∼0.045 and 0.060 e/Lip, where the TMP displayed a plateau; and 3) a poration regime above ∼0.060 e/Lip, where we observed pore formation within the sampling time (80 ns). We found no structural changes in the linear regime, apart from a nonlinear increase in the area per lipid, whereas in the yielding regime the bilayer exhibited substantial thinning, leading to an excess of water and Na + within the bilayer, as well as significant misalignment of the lipid tails. In the poration regime, lipid molecules diffused slightly faster. We also found that the fluid-to-gel phase transition temperature of the bilayer dropped below the normal value with increased ionic imbalances. Our results show that a high ionic imbalance can substantially alter the essential properties of the bilayer, making the bilayer more fluid like, or conversely, depolarization of a cell could in principle lead to membrane stiffening. Copyright © 2016 Biophysical Society. Published by Elsevier Inc. All rights reserved.

  13. 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

  14. 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.

  15. 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...... disturbances in the Danish workforce. Among women, an association between ERI and sleep disturbances was restricted to the cross-sectional sample. Improving psychosocial working conditions might reduce the risk of sleep disturbances and subsequently also help to prevent clinical disorders related to sleep...

  16. Association between effort-reward imbalance and glycosylated hemoglobin (HbA1c) among Chinese workers: results from SHISO study.

    Science.gov (United States)

    Xu, Weixian; Hang, Juan; Gao, Wei; Zhao, Yiming; Li, Weihong; Wang, Xinyu; Li, Zhaoping; Guo, Lijun

    2012-02-01

    The studies focusing on effort-reward imbalance and diabetes mellitus (DM)/glycosylated hemoglobin (HbA1c) are rare. We sought to examine the association between job stress evaluated by effort-reward imbalance (ERI) model and HbA1c in a Chinese population. We analyzed 680 subjects (465 men and 215 women) without DM or impaired glucose tolerance from the stress and health in Shenzhen workers (SHISO) study. Job stress was evaluated by effort-reward imbalance (ERI) model. HbA1c was measured by an automatic analyzer by means of high-performance liquid chromatography. The association between job stress and HbA1c was explored by variance analysis, partial correlations and multiple linear regression analysis. For women, effort, and ERI were positively associated with HbA1c (r = 0.22, p = 0,003; r = 0.21, p = 0.006, respectively), in contrast, reward was negatively associated with HbA1c (r = -0.17, p = 0.021), after controlling age, BMI and physical exercise in the partial correlation analysis; the similar results were confirmed in the multiple linear regression. No significant correlations between job stress and HbA1c were found for men. Effort and ERI are positively associated with HbA1c, and reward is inversely related to HbA1c among Chinese women. The association is not accounted for by age, BMI, and physical exercise. More efforts should be made to improve the job stress status of Chinese working women for the purpose of DM prevention.

  17. The role of muscle imbalance in the pathogenesis of shoulder contracture after neonatal brachial plexus palsy: a study in a rat model.

    Science.gov (United States)

    Soldado, Francisco; Fontecha, Cesar G; Marotta, Mario; Benito, David; Casaccia, Marcelo; Mascarenhas, Vasco V; Zlotolow, Dan; Kozin, Scott H

    2014-07-01

    An internal rotation contracture of the shoulder is common after neonatal brachial plexus injuries due to subscapularis shortening and atrophy. It has been explained by 2 theories: muscle denervation and muscle imbalance between the internal and external rotators of the shoulder. The goal of this study was to test the hypothesis that muscle imbalance alone could cause subscapularis changes and shoulder contracture. We performed selective neurectomy of the suprascapular nerve in 15 newborn rats to denervate only the supraspinatus and the infraspinatus muscles, leaving the subscapularis muscle intact. After 4 weeks, passive shoulder external rotation was measured and a 7.2-T magnetic resonance imaging scan of the shoulders was used to determine changes in the infraspinatus and subscapularis muscles. The subscapularis muscle was weighed to determine the degree of mass loss. An additional group of 10 newborn rats was evaluated to determine the sectional muscle fiber size and muscle area of fibrosis by use of images from type I collagen immunostaining. There was a significant decrease in passive shoulder external rotation, with a mean loss of 66°; in the thickness of the denervated infraspinatus, with a mean loss of 40%; and in the thickness and weight of the non-denervated subscapularis, with mean losses of 28% and 25%, respectively. No differences were found in subscapularis muscle fiber size and area of fibrosis between shoulders after suprascapular nerve injury. Our study supports the theory that shoulder muscle imbalance is a cause of shoulder contracture in patients with neonatal brachial plexus palsy. Copyright © 2014 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

  18. How does sagittal imbalance affect the appropriateness of surgical indications and selection of procedure in the treatment of degenerative scoliosis? Findings from the RAND/UCLA Appropriate Use Criteria study.

    Science.gov (United States)

    Daubs, Michael D; Brara, Harsimran S; Raaen, Laura B; Chen, Peggy Guey-Chi; Anderson, Ashaunta T; Asch, Steven M; Nuckols, Teryl K

    2018-05-01

    Degenerative lumbar scoliosis (DLS) is often associated with sagittal imbalance, which may affect patients' health outcomes before and after surgery. The appropriateness of surgery and preferred operative approaches has not been examined in detail for patients with DLS and sagittal imbalance. The goals of this article were to describe what is currently known about the relationship between sagittal imbalance and health outcomes among patients with DLS and to determine how indications for surgery in patients with DLS differ when sagittal imbalance is present. This study included a literature review and an expert panel using the RAND/University of California at Los Angeles (UCLA) Appropriateness Method. To develop appropriate use criteria for DLS, researchers at the RAND Corporation recently employed the RAND/UCLA Appropriateness Method, which involves a systematic review of the literature and multidisciplinary expert panel process. Experts reviewed a synopsis of published literature and rated the appropriateness of five common operative approaches for 260 different clinical scenarios. In the present work, we updated the literature review and compared panelists' ratings in scenarios where imbalance was present versus absent. This work was funded by the Collaborative Spine Research Foundation, a group of surgical specialty societies and device manufacturers. On the basis of 13 eligible studies that examined sagittal imbalance and outcomes in patients with DLS, imbalance was associated with worse functional status in the absence of surgery and worse symptoms and complications postoperatively. Panelists' ratings demonstrated a consistent pattern across the diverse clinical scenarios. In general, when imbalance was present, surgery was more likely to be appropriate or necessary, including in some situations where surgery would otherwise be inappropriate. For patients with moderate to severe symptoms and imbalance, a deformity correction procedure was usually appropriate

  19. Allele coding in genomic evaluation

    DEFF Research Database (Denmark)

    Standen, Ismo; Christensen, Ole Fredslund

    2011-01-01

    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...

  20. Nutrient imbalance in Norway spruce

    International Nuclear Information System (INIS)

    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

  1. 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

  2. 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.

  3. 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.

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

    Science.gov (United States)

    Sperlich, Stefanie; Peter, Richard; Geyer, Siegfried

    2012-01-06

    This paper reports on results of a newly developed questionnaire for the assessment of effort-reward imbalance (ERI) in unpaid household and family work. 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. 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. The newly developed questionnaire demonstrates satisfied validity and promising results for extending the ERI model to household and family work.

  5. Cation-anion imbalance: Effect on PWR steam generator crevice pH - an acidic case study

    International Nuclear Information System (INIS)

    Paine, J.P.N.; Shoemaker, C.E.

    1990-01-01

    Ion exchange resins remove cations more efficiently than anions from feedwater to nuclear steam generators. The resulting imbalance is made up in the feedwater train by ammonia additions. In the steam generator, the ammonia is quickly flashed off leaving acid ions for an ionic balance. The almost pure water concentrates by boiling in heated crevices, in theory, to levels permitted by the available superheat (difference between primary and secondary temperatures). The concentrations may reach an ionic strength of greater than 20 molal on the hot leg, depending on bulk water concentration, time of steady state operation, fouling of crevice locations, and solubilities of the various salts, i.e., kinetic as well as thermodynamic considerations. While some of the acid species distill out of the crevices, more may be trapped by corrosive reactions. In the paper, theoretical crevice pH is calculated by MULTEQ. An attempt is made to relate pH to steady state operation time and crevice fouling. The data are normalized to be independent of bulk water concentration. Neutralization of the acid is explored

  6. [Psychosocial stress and disease risks in occupational life. Results of international studies on the demand-control and the effort-reward imbalance models].

    Science.gov (United States)

    Siegrist, J; Dragano, N

    2008-03-01

    Given the far-reaching changes of modern working life, psychosocial stress at work has received increased attention. Its influence on stress-related disease risks is analysed with the help of standardised measurements based on theoretical models. Two such models have gained special prominence in recent years, the demand-control model and the effort-reward imbalance model. The former model places its emphasis on a distinct combination of job characteristics, whereas the latter model's focus is on the imbalance between efforts spent and rewards received in turn. The predictive power of these models with respect to coronary or cardiovascular disease and depression was tested in a number of prospective epidemiological investigations. In summary, twofold elevated disease risks are observed. Effects on cardiovascular disease are particularly pronounced among men, whereas no gender differences are observed for depression. Additional evidence derived from experimental and ambulatory monitoring studies supplements this body of findings. Current scientific evidence justifies an increased awareness and assessment of these newly discovered occupational risks, in particular by occupational health professionals. Moreover, structural and interpersonal measures of stress prevention and health promotion at work are warranted, with special emphasis on gender differences.

  7. 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.

  8. Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

    Science.gov (United States)

    Pompei, Fiorenza; Ciminelli, Bianca Maria; Bombieri, Cristina; Ciccacci, Cinzia; Koudova, Monika; Giorgi, Silvia; Belpinati, Francesca; Begnini, Angela; Cerny, Milos; Des Georges, Marie; Claustres, Mireille; Ferec, Claude; Macek, Milan; Modiano, Guido; Pignatti, Pier Franco

    2006-01-01

    An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were extensively screened for DNA sequence variation. A total of 80 variants were observed: 61 coding SNSs (results already published), 13 noncoding SNSs, three STRs, two short deletions, and one nucleotide insertion. Eight DNA variants were classified as non-CF causing due to their high frequency of occurrence. Through this survey the CFTR has become the most exhaustively studied gene for its coding sequence variability and, though to a lesser extent, for its noncoding sequence variability as well. Interestingly, most variation was associated with the M470 allele, while the V470 allele showed an 'extended haplotype homozygosity' (EHH). These findings make us suggest a role for selection acting either on the M470V itself or through an hitchhiking mechanism involving a second site. The possible ancient origin of the V allele in an 'out of Africa' time frame is discussed.

  9. A genomic study on distribution of human leukocyte antigen (HLA-A and HLA-B alleles in Lak population of Iran

    Directory of Open Access Journals (Sweden)

    Farhad Shahsavar

    2017-03-01

    Full Text Available Anthropological studies based on the highly polymorphic gene, human leukocyte antigen (HLA, provide useful information for bone marrow donor registry, forensic medicine, disease association studies, as well as infertility treatment, designing peptide vaccines against tumors, and infectious or autoimmune diseases. The aim of this study was to determine HLA-A and HLA-B allele frequencies in 100 unrelated Lak/lᴂk/individuals from Lorestan province of Iran. Finally, we compared the results with that previously described in Iranian population. Commercial HLA-Type kits from BAG (Lich, Germany company were used for determination of the HLA-A and HLA-B allele frequencies in genomic DNA, based on polymerase chain reaction with sequence specific primer (PCR-SSP assay. The differences between the populations in distribution of HLA-A and HLA-B alleles were estimated by chi-squared test with Yate's correction. The most frequent HLA-A alleles were *24 (20%, *02 (18%, *03 (12% and *11 (10%, and the most frequent HLA-B alleles were *35 (24%, *51 (16%, *18 (6% and *38 (6% in Lak population. HLA-A*66 (1%, *74(1% and HLA-B*48 (1%, *55(1% were the least observed frequencies in Lak population. Our results based on HLA-A and HLA-B allele frequencies showed that Lak population possesses the previously reported general features of Iranians but still with unique.

  10. The organizational work factors' effect on mental health among hospital workers is mediated by perceived effort-reward imbalance: result of a longitudinal study.

    Science.gov (United States)

    Lamy, Sébastien; De Gaudemaris, Régis; Lepage, Benoit; Sobaszek, Annie; Caroly, Sandrine; Kelly-Irving, Michelle; Lang, Thierry

    2013-07-01

    This longitudinal study aimed to test the hypothesis that organizational work factors (OWFs) may be related to depressive symptoms through an increased effort-reward imbalance (ERI) ratio among registered nurses (RNs) and nursing assistants working in hospitals. We studied 2117 female RNs and nursing assistants who stayed in the same work unit and position during the follow-up from the ORSOSA (ORganisation des SOins-SAnté) longitudinal study. The work characteristics and workers' health were assessed in 2006 and 2008. We confirmed our hypothesis of both direct and mediated effects of OWFs on workers' health. We showed that issues about patient-related information exchanges increased RNs' depressive disorders by increasing first a perceived ERI. Our results advocate integrating both the work organizational level and the individual level into preventive actions to improve workers' mental health.

  11. QuASAR-MPRA: accurate allele-specific analysis for massively parallel reporter assays.

    Science.gov (United States)

    Kalita, Cynthia A; Moyerbrailean, Gregory A; Brown, Christopher; Wen, Xiaoquan; Luca, Francesca; Pique-Regi, Roger

    2018-03-01

    The majority of the human genome is composed of non-coding regions containing regulatory elements such as enhancers, which are crucial for controlling gene expression. Many variants associated with complex traits are in these regions, and may disrupt gene regulatory sequences. Consequently, it is important to not only identify true enhancers but also to test if a variant within an enhancer affects gene regulation. Recently, allele-specific analysis in high-throughput reporter assays, such as massively parallel reporter assays (MPRAs), have been used to functionally validate non-coding variants. However, we are still missing high-quality and robust data analysis tools for these datasets. We have further developed our method for allele-specific analysis QuASAR (quantitative allele-specific analysis of reads) to analyze allele-specific signals in barcoded read counts data from MPRA. Using this approach, we can take into account the uncertainty on the original plasmid proportions, over-dispersion, and sequencing errors. The provided allelic skew estimate and its standard error also simplifies meta-analysis of replicate experiments. Additionally, we show that a beta-binomial distribution better models the variability present in the allelic imbalance of these synthetic reporters and results in a test that is statistically well calibrated under the null. Applying this approach to the MPRA data, we found 602 SNPs with significant (false discovery rate 10%) allele-specific regulatory function in LCLs. We also show that we can combine MPRA with QuASAR estimates to validate existing experimental and computational annotations of regulatory variants. Our study shows that with appropriate data analysis tools, we can improve the power to detect allelic effects in high-throughput reporter assays. http://github.com/piquelab/QuASAR/tree/master/mpra. fluca@wayne.edu or rpique@wayne.edu. Supplementary data are available online at Bioinformatics. © The Author (2017). Published by

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

    International Nuclear Information System (INIS)

    Castillejo, Adela; Guillén-Ponce, Carmen; Carrato, Alfredo; Soto, José-Luís; Mata-Balaguer, Trinidad; Montenegro, Paola; Ochoa, Enrique; Lázaro, Rafael; Martínez-Cantó, Ana; Castillejo, María-Isabel; Guarinos, Carla; Barberá, Víctor-Manuel

    2009-01-01

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

  13. Allele-specific deletions in mouse tumors identify Fbxw7 as germline modifier of tumor susceptibility.

    Directory of Open Access Journals (Sweden)

    Jesus Perez-Losada

    Full Text Available Genome-wide association studies (GWAS have been successful in finding associations between specific genetic variants and cancer susceptibility in human populations. These studies have identified a range of highly statistically significant associations between single nucleotide polymorphisms (SNPs and susceptibility to development of a range of human tumors. However, the effect of each SNP in isolation is very small, and all of the SNPs combined only account for a relatively minor proportion of the total genetic risk (5-10%. There is therefore a major requirement for alternative routes to the discovery of genetic risk factors for cancer. We have previously shown using mouse models that chromosomal regions harboring susceptibility genes identified by linkage analysis frequently exhibit allele-specific genetic alterations in tumors. We demonstrate here that the Fbxw7 gene, a commonly mutated gene in a wide range of mouse and human cancers, shows allele-specific deletions in mouse lymphomas and skin tumors. Lymphomas from three different F1 hybrids show 100% allele-specificity in the patterns of allelic loss. Parental alleles from 129/Sv or Spretus/Gla mice are lost in tumors from F1 hybrids with C57BL/6 animals, due to the presence of a specific non-synonymous coding sequence polymorphism at the N-terminal portion of the gene. A specific genetic test of association between this SNP and lymphoma susceptibility in interspecific backcross mice showed a significant linkage (p = 0.001, but only in animals with a functional p53 gene. These data therefore identify Fbxw7 as a p53-dependent tumor susceptibility gene. Increased p53-dependent tumor susceptibility and allele-specific losses were also seen in a mouse skin model of skin tumor development. We propose that analysis of preferential allelic imbalances in tumors may provide an efficient means of uncovering genetic variants that affect mouse and human tumor susceptibility.

  14. Three-dimensional, virtual reality vestibular rehabilitation for chronic imbalance problem caused by Ménière's disease: a pilot study.

    Science.gov (United States)

    Hsu, Su-Yi; Fang, Te-Yung; Yeh, Shih-Ching; Su, Mu-Chun; Wang, Pa-Chun; Wang, Victoria Y

    2017-08-01

    The purpose of this study was to evaluate a three-dimensional, virtual reality system for vestibular rehabilitation in patients with intractable Ménière's disease and chronic vestibular dysfunction. We included 70 patients (36 for study, 34 as control) with a chronic imbalance problem caused by uncompensated Ménière's disease. The virtual reality vestibular rehabilitation comprised four training tasks (modified Cawthorne-Cooksey exercises: eye, head, extension, and coordination exercises) performed in six training sessions (in 4 weeks). Measurements of the task scores and balance parameters obtained at the baseline and after final training sessions were compared. A significant improvement was observed in extension and coordination scores. Patients in the early stages of Ménière's disease had a significantly greater improvement in the center of gravity sway and trajectory excursion in the mediolateral direction than did patients in the late stages of Ménière's disease. Mild functional disability attributable to Ménière's disease was a predictor of improvement in the statokinesigram and maximum trajectory excursion in the anteroposterior direction after rehabilitation. The control group showed no significant improvement in almost all parameters. Virtual reality vestibular rehabilitation may be useful in patients with Ménière's disease, particular those in the early stages or having mild functional disability. Implication for rehabilitation Chronic imbalance caused by uncompensated Ménière's disease is an indication for vestibular rehabilitation. The interactive virtual reality video game, when integrated into vestibular rehabilitation exercise protocol, may assist patients who have mild disability Ménière's disease and who cannot benefit from treatment with drugs or surgery. The initial data from this study support the applicability of three-dimensional virtual reality technology in vestibular rehabilitation programs. The technology gives

  15. 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. © 2015 Her Majesty the Queen in Right of Canada Molecular Ecology Resources © 2015 John Wiley & Sons Ltd Reproduced with the permission of the Minister of Agriculture and Agri-food.

  16. Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.

    Science.gov (United States)

    Miller, F W; Chen, W; O'Hanlon, T P; Cooper, R G; Vencovsky, J; Rider, L G; Danko, K; Wedderburn, L R; Lundberg, I E; Pachman, L M; Reed, A M; Ytterberg, S R; Padyukov, L; Selva-O'Callaghan, A; Radstake, T R; Isenberg, D A; Chinoy, H; Ollier, W E R; Scheet, P; Peng, B; Lee, A; Byun, J; Lamb, J A; Gregersen, P K; Amos, C I

    2015-10-01

    Autoimmune muscle diseases (myositis) comprise a group of complex phenotypes influenced by genetic and environmental factors. To identify genetic risk factors in patients of European ancestry, we conducted a genome-wide association study (GWAS) of the major myositis phenotypes in a total of 1710 cases, which included 705 adult dermatomyositis, 473 juvenile dermatomyositis, 532 polymyositis and 202 adult dermatomyositis, juvenile dermatomyositis or polymyositis patients with anti-histidyl-tRNA synthetase (anti-Jo-1) autoantibodies, and compared them with 4724 controls. Single-nucleotide polymorphisms showing strong associations (Pmyositis phenotypes together, as well as for the four clinical and autoantibody phenotypes studied separately. Imputation and regression analyses found that alleles comprising the human leukocyte antigen (HLA) 8.1 ancestral haplotype (AH8.1) defined essentially all the genetic risk in the phenotypes studied. Although the HLA DRB1*03:01 allele showed slightly stronger associations with adult and juvenile dermatomyositis, and HLA B*08:01 with polymyositis and anti-Jo-1 autoantibody-positive myositis, multiple alleles of AH8.1 were required for the full risk effects. Our findings establish that alleles of the AH8.1 comprise the primary genetic risk factors associated with the major myositis phenotypes in geographically diverse Caucasian populations.

  17. Spin imbalance effect on the Larkin-Ovchinnikov-Fulde-Ferrel state

    International Nuclear Information System (INIS)

    Yoshii, Ryosuke; Tsuchiya, Shunji; Marmorini, Giacomo; Nitta, Muneto

    2011-01-01

    We study spin imbalance effects on the Larkin-Ovchinnikov-Fulde-Ferrel (LOFF) state relevant for superconductors under a strong magnetic field and spin polarized ultracold Fermi gas. We obtain the exact solution for the condensates with arbitrary spin imbalance and the fermion spectrum perturbatively in the presence of small spin imbalance. We also obtain fermion zero mode exactly without perturbation theory.

  18. Apolipoprotein E4 Allele and Gait Performance in Mild Cognitive Impairment: Results From the Gait and Brain Study.

    Science.gov (United States)

    Sakurai, Ryota; Montero-Odasso, Manuel

    2017-11-09

    The apolipoprotein E polymorphism ε4 allele (ApoE4) and gait impairment are both known risk factors for developing cognitive decline and dementia. However, it is unclear the interrelationship between these factors, particularly among older adults with mild cognitive impairment (MCI) who are considered as prodromal for Alzheimer's disease. This study aimed to determine whether ApoE4 carrier individuals with MCI may experience greater impairment in gait performance. Fifty-six older adults with MCI from the "Gait and Brain Study" who were identified as either ApoE4 carriers (n = 20) or non-ApoE4 carriers (n = 36) with 1 year of follow-up were included. Gait variability, the main outcome variable, was assessed as stride time variability with an electronic walkway. Additional gait variables and cognitive performance (mini-mental state examination [MMSE] and Montreal Cognitive Assessment [MoCA]) were also recorded. Covariates included age, sex, education level, body mass index, and number of comorbidities. Baseline characteristics were similar for both groups. Repeated measures analysis of covariance showed that gait stride time and stride length variabilities significantly increased in ApoE4 carriers but was maintained in the non-ApoE4 carriers. Similarly, ApoE4 carriers showed greater decrease in MMSE score at follow-up. In this sample of older adults with MCI, the presence of at least one copy of ApoE4 was associated with the development of both increased gait variability and cognitive decline during 1 year of follow-up. ApoE4 genotype might be considered as a potential mediator of decline in mobility function in MCI; future studies with larger samples are needed to confirm our preliminary findings. © The Author 2017. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  19. SCREENING LOW FREQUENCY SNPS FROM GENOME WIDE ASSOCIATION STUDY REVEALS A NEW RISK ALLELE FOR PROGRESSION TO AIDS

    Science.gov (United States)

    Le Clerc, Sigrid; Coulonges, Cédric; Delaneau, Olivier; Van Manen, Danielle; Herbeck, Joshua T.; Limou, Sophie; An, Ping; Martinson, Jeremy J.; Spadoni, Jean-Louis; Therwath, Amu; Veldink, Jan H.; van den Berg, Leonard H.; Taing, Lieng; Labib, Taoufik; Mellak, Safa; Montes, Matthieu; Delfraissy, Jean-François; Schächter, François; Winkler, Cheryl; Froguel, Philippe; Mullins, James I.; Schuitemaker, Hanneke; Zagury, Jean-François

    2011-01-01

    Background Seven genome-wide association studies (GWAS) have been published in AIDS and only associations in the HLA region on chromosome 6 and CXCR6 have passed genome-wide significance. Methods We reanalyzed the data from three previously published GWAS, targeting specifically low frequency SNPs (minor allele frequency (MAF)<5%). Two groups composed of 365 slow progressors (SP) and 147 rapid progressors (RP) from Europe and the US were compared with a control group of 1394 seronegative individuals using Eigenstrat corrections. Results Of the 8584 SNPs with MAF<5% in cases and controls (Bonferroni threshold=5.8×10−6), four SNPs showed statistical evidence of association with the SP phenotype. The best result was for HCP5 rs2395029 (p=8.54×10−15, OR=3.41) in the HLA locus, in partial linkage disequilibrium with two additional chromosome 6 associations in C6orf48 (p=3.03×10−10, OR=2.9) and NOTCH4 (9.08×10−07, OR=2.32). The fourth association corresponded to rs2072255 located in RICH2 (p=3.30×10−06, OR=0.43) in chromosome 17. Using HCP5 rs2395029 as a covariate, the C6orf48 and NOTCH4 signals disappeared, but the RICH2 signal still remained significant. Conclusion Besides the already known chromosome 6 associations, the analysis of low frequency SNPs brought up a new association in the RICH2 gene. Interestingly, RICH2 interacts with BST-2 known to be a major restriction factor for HIV-1 infection. Our study has thus identified a new candidate gene for AIDS molecular etiology and confirms the interest of singling out low frequency SNPs in order to exploit GWAS data. PMID:21107268

  20. 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.

  1. Study of Cytochrome P450 2E1 and its allele Variants in Liver Injury of Nondiabetic, Nonalcoholic Steatohepatitis Obese Women

    Directory of Open Access Journals (Sweden)

    NELSON M VARELA

    2008-01-01

    Full Text Available CYP2E1 enzyme is related to nonalcoholic steatohepatitis (NASH due to its ability for reactive oxygen species production, which can be influenced by polymorphisms in the gene. The aim of this study was to investigate hepatic levels, activity, and polymorphisms of the CYP2E1 gene to correlate it with clinical and histological features in 48 female obese NASH patients. Subjects were divided into three groups: (i normal; (ii steatosis; and (iii steatohepatitis. CYP2E1 protein level was assayed in microsomes from liver biopsies, and in vivo chlorzoxazone hydroxylation was determined by HPLC. Genomic DNA was isolated for genotype analysis through PCR. The results showed that liver CYP2E1 content was significantly higher in the steatohepatitis (45%; p=0.024 and steatosis (22%; p=0.032 group compared with normal group. Chlorzoxazone hydroxylase activity showed significant enhancement in the steatohepatitis group (15%, p=0.027 compared with the normal group. c2 rare allele of RsallPstl polymorphisms but no C allele of Dral polymorphism was positively associated with CHZ hydroxylation, which in turn is correlated with liver CYP2E1 content (r=0.59; p=0.026. In conclusion, c2 allele is positively associated with liver injury in NASH. This allele may determine a higher transcriptional activity of the gene, with consequent enhancement in pro-oxidant activity of CYP2E1 thus affording liver toxicity

  2. Protective role of the apolipoprotein E2 allele in age-related disease traits and survival: evidence from the Long Life Family Study.

    Science.gov (United States)

    Kulminski, Alexander M; Raghavachari, Nalini; Arbeev, Konstantin G; Culminskaya, Irina; Arbeeva, Liubov; Wu, Deqing; Ukraintseva, Svetlana V; Christensen, Kaare; Yashin, Anatoliy I

    2016-11-01

    The apolipoprotein E (apoE) is a classic example of a gene exhibiting pleiotropism. We examine potential pleiotropic associations of the apoE2 allele in three biodemographic cohorts of long-living individuals, offspring, and spouses from the Long Life Family Study, and intermediate mechanisms, which can link this allele with age-related phenotypes. We focused on age-related macular degeneration, bronchitis, asthma, pneumonia, stroke, creatinine, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, diseases of heart (HD), cancer, and survival. Our analysis detected favorable associations of the ε2 allele with lower LDL-C levels, lower risks of HD, and better survival. The ε2 allele was associated with LDL-C in each gender and biodemographic cohort, including long-living individuals, offspring, and spouses, resulting in highly significant association in the entire sample (β = -7.1, p = 6.6 × 10 -44 ). This allele was significantly associated with HD in long-living individuals and offspring (relative risk [RR] = 0.60, p = 3.1 × 10 -6 ) but this association was not mediated by LDL-C. The protective effect on survival was specific for long-living women but it was not explained by LDL-C and HD in the adjusted model (RR = 0.70, p = 2.1 × 10 -2 ). These results show that ε2 allele may favorably influence LDL-C, HD, and survival through three mechanisms. Two of them (HD- and survival-related) are pronounced in the long-living parents and their offspring; the survival-related mechanism is also sensitive to gender. The LDL-C-related mechanism appears to be independent of these factors. Insights into mechanisms linking ε2 allele with age-related phenotypes given biodemographic structure of the population studied may benefit translation of genetic discoveries to health care and personalized medicine.

  3. 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

  4. Association between childhood health, socioeconomic and school-related factors and effort-reward imbalance at work: a 25-year follow-up study.

    Science.gov (United States)

    Wang, Shuo; Sanderson, Kristy; Venn, Alison; Dwyer, Terence; Gall, Seana

    2018-01-01

    Stress pathways can have origins in childhood, but few early predictors have been explored in relation to adult job stress. This study examined whether childhood school, health or socioeconomic factors were associated with adult job stress. Data came from the Childhood Determinants of Adult Health study that began in 1985 with children aged 7-15 years who reported effortreward imbalance (ERI) scales at ages 31-41 years. Linear regression assessed the association between childhood factors and adult ERI adjusted for age and socioeconomic position (SEP) in childhood and adulthood. There were between 999 and 1390 participants in each analysis. Lower adulthood ERI, indicating less job stress, was predicted by several school-related factors in men. For example, each higher category of learner self-concept was associated with a 19% (95% CI - 32% to 6%) reduction in adult ERI, and each unit increase in academic attainment was associated with a 15% (95% CI -28% to 3%) reduction in adult ERI. Childhood health was associated with adult ERI. For example, in women, overweight children had 14% (95% CI 5% to 22%) higher adult ERI scores compared with healthy weight children, and each unit of negative affect was associated with 2% (95% CI 1% to 4%) increase in adult ERI. Adult SEP had no effect on these associations for men but explained some of the effect in women. Childhood SEP had inconsistent associations with adult ERI. Our findings suggest that a range of childhood socioeconomic, school- and health-related factors might contribute to the development of job stress in adulthood. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  5. 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.

  6. Genome-wide association study in discordant sibships identifies multiple inherited susceptibility alleles linked to lung cancer.

    Science.gov (United States)

    Galvan, Antonella; Falvella, Felicia S; Frullanti, Elisa; Spinola, Monica; Incarbone, Matteo; Nosotti, Mario; Santambrogio, Luigi; Conti, Barbara; Pastorino, Ugo; Gonzalez-Neira, Anna; Dragani, Tommaso A

    2010-03-01

    We analyzed a series of young (median age = 52 years) non-smoker lung cancer patients and their unaffected siblings as controls, using a genome-wide 620 901 single-nucleotide polymorphism (SNP) array analysis and a case-control DNA pooling approach. We identified 82 putatively associated SNPs that were retested by individual genotyping followed by use of the sib transmission disequilibrium test, pointing to 36 SNPs associated with lung cancer risk in the discordant sibs series. Analysis of these 36 SNPs in a polygenic model characterized by additive and interchangeable effects of rare alleles revealed a highly statistically significant dosage-dependent association between risk allele carrier status and proportion of cancer cases. Replication of the same 36 SNPs in a population-based series confirmed the association with lung cancer for three SNPs, suggesting that phenocopies and genetic heterogeneity can play a major role in the complex genetics of lung cancer risk in the general population.

  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 d...

  8. Dijet imbalance in hadronic collisions

    International Nuclear Information System (INIS)

    Boer, Danieel; 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 initial state partons inside unpolarized hadrons that can arise in the presence of nonzero parton transverse momentum. Transversely polarized quarks and linearly polarized gluons produce specific azimuthal dependences of the two jets that in principle are not suppressed. Their effects cannot be isolated just by looking at the angular deviation from the back-to-back situation; rather they enter jet broadening observables. In this way they directly affect the extraction of the average transverse momentum of unpolarized partons that is thought to be extracted. We discuss appropriately weighted cross sections to isolate the additional contributions.

  9. TARGET Imbalances at Record Levels

    DEFF Research Database (Denmark)

    Hallett, Andrew Hughes

    quantitative easing, but are not driven by it. The main threats are the divergence that interrupts further economic integration; and the increasing liabilities taken on by the ECB since 2015. That said, self-correcting mechanisms are weak which makes symmetric adjustments by both creditor and debtor countries...... essential (because of the adding up constraint); and the difficulty that the imbalances cannot always be eliminated simply by balancing current accounts around the system....

  10. [Comparison between the risk of mobbing at work and conditions of job strain and effort-reward imbalance in relation to stress-related disorders: a study in the public administration].

    Science.gov (United States)

    Balducci, C; Fraccaroli, E

    2013-01-01

    A limitation of previous research on mobbing at work was that the individual consequences of the phenomenon were often assessed on 'clinical' samples of victims. Studies in organizations are less numerous and those available rarely evaluated the potential effect of mobbing over and above that of other psychosocial factors which provided robust evidence of adverse health effects. The relationship between exposure to mobbing and stress-related psychophysical conditions was investigated taking in consideration the possible concomitant exposure to job strain and effort-reward imbalance. Cross-sectional study on public administration administrative employees (No. = 538, 48% women). The psychosocial factors considered were assessed by means of well known and validated scales. The four health outcomes considered were psychological caseness (as operationalized by means of the general health questionnaire-12-item version), depression, gastritis and colitis/irritable colon syndrome as indicated by having reported a medical diagnosis of such conditions. Covariates: gender, age, body mass index, smoking habits and experience of a traumatic event in the last year. Analysis consisted of a series of logistic regressions. Exposure to mobbing was significantly associated with all the outcomes considered over and above the covariates. The inclusion in the models of job strain and effort-reward imbalance did not substantially alter the results. The relationship between mobbing at work and health outcomes is not confounded by concomitant exposure to job strain and effort-reward imbalance. These results offer further confirmation of the uniqueness of mobbing as a psychosocial risk factor.

  11. Kinetics of HIV-1 CTL epitopes recognized by HLA I alleles in HIV-infected individuals at times near primary infection: the Provir/Latitude45 study.

    Directory of Open Access Journals (Sweden)

    Jennifer Papuchon

    Full Text Available In patients responding successfully to ART, the next therapeutic step is viral cure. An interesting strategy is antiviral vaccination, particularly involving CD8 T cell epitopes. However, attempts at vaccination are dependent on the immunogenetic background of individuals. The Provir/Latitude 45 project aims to investigate which CTL epitopes in proviral HIV-1 will be recognized by the immune system when HLA alleles are taken into consideration. A prior study (Papuchon et al, PLoS ONE 2013 showed that chronically-infected patients under successful ART exhibited variations of proviral CTL epitopes compared to a reference viral strain (HXB2 and that a generic vaccine may not be efficient. Here, we investigated viral and/or proviral CTL epitopes at different time points in recently infected individuals of the Canadian primary HIV infection cohort and assessed the affinity of these epitopes for HLA alleles during the study period. An analysis of the results confirms that it is not possible to fully predict which epitopes will be recognized by the HLA alleles of the patients if the reference sequences and epitopes are taken as the basis of simulation. Epitopes may be seen to vary in circulating RNA and proviral DNA. Despite this confirmation, the overall variability of the epitopes was low in these patients who are temporally close to primary infection.

  12. Kinetics of HIV-1 CTL epitopes recognized by HLA I alleles in HIV-infected individuals at times near primary infection: the Provir/Latitude45 study.

    Science.gov (United States)

    Papuchon, Jennifer; Pinson, Patricia; Guidicelli, Gwenda-Line; Bellecave, Pantxika; Thomas, Réjean; LeBlanc, Roger; Reigadas, Sandrine; Taupin, Jean-Luc; Baril, Jean Guy; Routy, Jean Pierre; Wainberg, Mark; Fleury, Hervé

    2014-01-01

    In patients responding successfully to ART, the next therapeutic step is viral cure. An interesting strategy is antiviral vaccination, particularly involving CD8 T cell epitopes. However, attempts at vaccination are dependent on the immunogenetic background of individuals. The Provir/Latitude 45 project aims to investigate which CTL epitopes in proviral HIV-1 will be recognized by the immune system when HLA alleles are taken into consideration. A prior study (Papuchon et al, PLoS ONE 2013) showed that chronically-infected patients under successful ART exhibited variations of proviral CTL epitopes compared to a reference viral strain (HXB2) and that a generic vaccine may not be efficient. Here, we investigated viral and/or proviral CTL epitopes at different time points in recently infected individuals of the Canadian primary HIV infection cohort and assessed the affinity of these epitopes for HLA alleles during the study period. An analysis of the results confirms that it is not possible to fully predict which epitopes will be recognized by the HLA alleles of the patients if the reference sequences and epitopes are taken as the basis of simulation. Epitopes may be seen to vary in circulating RNA and proviral DNA. Despite this confirmation, the overall variability of the epitopes was low in these patients who are temporally close to primary infection.

  13. Hamstrings strength imbalance in professional football (soccer) players in Australia.

    Science.gov (United States)

    Ardern, Clare L; Pizzari, Tania; Wollin, Martin R; Webster, Kate E

    2015-04-01

    The aim of this study was to describe the isokinetic thigh muscle strength profile of professional male football players in Australia. Concentric (60° and 240°·s(-1)) and eccentric (30° and 120°·s(-1)) hamstrings and quadriceps isokinetic strength was measured with a HUMAC NORM dynamometer. The primary variables were bilateral concentric and eccentric hamstring and quadriceps peak torque ratios, concentric hamstring-quadriceps peak torque ratios, and mixed ratios (eccentric hamstring 30°·s(-1) ÷ concentric quadriceps 240°·s(-1)). Hamstring strength imbalance was defined as deficits in any 2 of: bilateral concentric hamstring peak torque ratio imbalance. Athletes with strength imbalance had significantly reduced concentric and eccentric bilateral hamstring peak torque ratios at all angular velocities tested; and reduced eccentric quadriceps peak torque (30°·s(-1)) in their stance leg, compared with those without strength imbalance. Approximately, 1 in 4 players had preseason hamstring strength imbalance; and all strength deficits were observed in the stance leg. Concentric and eccentric hamstrings strength imbalance may impact in-season football performance and could have implications for the future risk of injury.

  14. 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.

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

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    Ivyna Bong Pau Ni

    2012-09-01

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

  16. BRAF Gene Copy Number and Mutant Allele Frequency Correlate with Time to Progression in Metastatic Melanoma Patients Treated with MAPK Inhibitors.

    Science.gov (United States)

    Stagni, Camilla; Zamuner, Carolina; Elefanti, Lisa; Zanin, Tiziana; Bianco, Paola Del; Sommariva, Antonio; Fabozzi, Alessio; Pigozzo, Jacopo; Mocellin, Simone; Montesco, Maria Cristina; Chiarion-Sileni, Vanna; De Nicolo, Arcangela; Menin, Chiara

    2018-06-01

    Metastatic melanoma is characterized by complex genomic alterations, including a high rate of mutations in driver genes and widespread deletions and amplifications encompassing various chromosome regions. Among them, chromosome 7 is frequently gained in BRAF -mutant melanoma, inducing a mutant allele-specific imbalance. Although BRAF amplification is a known mechanism of acquired resistance to therapy with MAPK inhibitors, it is still unclear if BRAF copy-number variation and BRAF mutant allele imbalance at baseline can be associated with response to treatment. In this study, we used a multimodal approach to assess BRAF copy number and mutant allele frequency in pretreatment melanoma samples from 46 patients who received MAPK inhibitor-based therapy, and we analyzed the association with progression-free survival. We found that 65% patients displayed BRAF gains, often supported by chromosome 7 polysomy. In addition, we observed that 64% patients had a balanced BRAF -mutant/wild-type allele ratio, whereas 14% and 23% patients had low and high BRAF mutant allele frequency, respectively. Notably, a significantly higher risk of progression was observed in patients with a diploid BRAF status versus those with BRAF gains [HR, 2.86; 95% confidence interval (CI), 1.29-6.35; P = 0.01] and in patients with low percentage versus those with a balanced BRAF mutant allele percentage (HR, 4.54; 95% CI, 1.33-15.53; P = 0.016). Our data suggest that quantitative analysis of the BRAF gene could be useful to select the melanoma patients who are most likely to benefit from therapy with MAPK inhibitors. Mol Cancer Ther; 17(6); 1332-40. ©2018 AACR . ©2018 American Association for Cancer Research.

  17. 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

  18. Continuous insulin administration via complex central venous catheter infusion tubing is another risk factor for blood glucose imbalance. A retrospective study.

    Science.gov (United States)

    Maury, Eric; Vitry, Paola; Galbois, Arnauld; Ait-Oufella, Hafid; Baudel, Jean-Luc; Guidet, Bertrand; Offenstadt, Georges

    2012-06-14

    We assessed the potential impact of infusion tubing on blood glucose imbalance in ICU patients given intensive insulin therapy (IIT). We compared the incidence of blood glucose imbalance in patients equipped, in a nonrandomized fashion, with either conventional tubing or with a multiport infusion device. We retrospectively analyzed the nursing files of 35 patients given IIT through the distal line of a double-lumen central venous catheter. A total of 1389 hours of IIT were analyzed for occurrence of hypoglycemic events [defined as arterial blood glucose below 90 mg/dL requiring discontinuation of insulin]. Twenty-one hypoglycemic events were noted (density of incidence 15 for 1000 hours of ITT). In 17 of these 21 events (81%), medication had been administered during the previous hour through the line connected to the distal lumen of the catheter. Conventional tubing use was associated with a higher density of incidence of hypoglycemic events than multiport infusion device use (23 vs. 2 for 1,000 hours of IIT; rate ratio = 11.5; 95% confidence interval, 2.71-48.8; p tubing carrying other medications can lead to the delivery of significant amounts of unscheduled products. Hypoglycaemia observed during IIT could be related to this phenomenon. The use of a multiport infusion device with a limited dead volume could limit hypoglycemia in patients on IIT.

  19. Allele and genotype frequencies of -β lactoglobulin gene in Iranian ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-08-04

    Aug 4, 2009 ... Blood samples were supplied from 80 Najdi cattle and 80 buffalo from different cities of Khouzestan province. ... The allele B of β-Lactoglobulin occurred at a higher frequency than the allele A in both. Najdi cattle and buffalo. .... that of the B allele in both groups of animals studied. Expected heterozygosity ...

  20. Charge imbalance: its relaxation, diffusion and oscillation

    International Nuclear Information System (INIS)

    Pethick, C.J.

    1981-01-01

    In this article, the authors use a model for charge density based on two charge components: the normal quasiparticle component and the superfluid/condensate component. Based on the quasiparticle Boltzmann equation, this two-component model, when used in nonequilibrium contexts, is fruitful in describing a variety of charge-imbalance phenomena in superconductors. The authors discuss various methods of generating charge-imbalances, charge-imbalance relaxation processes (such as phonons, impurity scattering and magnetic impurities) and applications of the two-component model of charge imbalance to spatially inhomogeneous conditions

  1. TumorBoost: Normalization of allele-specific tumor copy numbers from a single pair of tumor-normal genotyping microarrays

    Directory of Open Access Journals (Sweden)

    Neuvial Pierre

    2010-05-01

    Full Text Available Abstract Background High-throughput genotyping microarrays assess both total DNA copy number and allelic composition, which makes them a tool of choice for copy number studies in cancer, including total copy number and loss of heterozygosity (LOH analyses. Even after state of the art preprocessing methods, allelic signal estimates from genotyping arrays still suffer from systematic effects that make them difficult to use effectively for such downstream analyses. Results We propose a method, TumorBoost, for normalizing allelic estimates of one tumor sample based on estimates from a single matched normal. The method applies to any paired tumor-normal estimates from any microarray-based technology, combined with any preprocessing method. We demonstrate that it increases the signal-to-noise ratio of allelic signals, making it significantly easier to detect allelic imbalances. Conclusions TumorBoost increases the power to detect somatic copy-number events (including copy-neutral LOH in the tumor from allelic signals of Affymetrix or Illumina origin. We also conclude that high-precision allelic estimates can be obtained from a single pair of tumor-normal hybridizations, if TumorBoost is combined with single-array preprocessing methods such as (allele-specific CRMA v2 for Affymetrix or BeadStudio's (proprietary XY-normalization method for Illumina. A bounded-memory implementation is available in the open-source and cross-platform R package aroma.cn, which is part of the Aroma Project (http://www.aroma-project.org/.

  2. Neurovascular conflict in oculomotor imbalance

    Directory of Open Access Journals (Sweden)

    Natalya Agafonovna Totolyan

    2015-12-01

    Full Text Available This article, based on the data of Russian and foreign literature, considers modern approaches to the understanding of neurovascular conflict (NVC term, different causes of its development and realization mechanisms; statistical data are presented on its occurrence in different medical specialties; modern approaches to early diagnosis of neurovascular conflicts are covered. Special attention is drawn to oculomotor imbalances being one of neurovascular conflict manifestations. Based on global experience, approaches to most exact and early diagnosis are described, differences in notion terminology of neurovascular contact and neurovascular conflict are shown. As most effective method for NVC diagnosis, the use of neurovisualization method, that is high-resolution magnetic resonance imaging (MRI (high field MRI, is positioned.

  3. Global imbalances: a gathering storm

    Directory of Open Access Journals (Sweden)

    Ugo Sacchetti

    2010-01-01

    Full Text Available This article provides a detailed analysis of the many factors that, over a period of several years, have contributed to the international financial crisis and highlights the global imbalances, both financial and economic, that continue to pose significant threats to the stability of the world economy. The examination goes beyond looking strictly at the case of the USA to include the positions of other relevant countries, and underscores the shifting relations between the USA and the rest of the world. The pertinent geopolitical aspects are covered, followed by a discussion on possible institutional changes in international financial agencies, prospective financial problems of the USA and their implications, monetary developments, external balances, and international economic problems.

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

    International Nuclear Information System (INIS)

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

    2016-01-01

    Alterations in the host cellular immune response allow persistent infections with High-Risk Human Papillomavirus (HR-HPV) and development of premalignant cervical lesions and cervical cancer (CC). Variations of immunosuppressive cytokine levels in cervix are associated with the natural history of CC. To assess the potential role of genetic host immunity and cytokines serum levels in the risk of developing CC, we conducted a case–control study paired by age. Peripheral blood samples from patients with CC (n = 200) and hospital controls (n = 200), were used to evaluate nine biallelic SNPs of six cytokine genes of the adaptive immune system by allelic discrimination and cytokines serum levels by ELISA. After analyzing the SNP association by multivariate logistic regression adjusted by age, CC history and smoking history, three Th2 cytokines (IL-4, IL-6 and IL-10) and one Th3 (TGFB1) cytokine were significantly associated with CC. Individuals with at least one copy of the following risk alleles: T of SNP (−590C > T IL-4), C of SNP (−573G > C IL-6), A of SNP (−592C > A IL-10), T of SNP (−819C > T IL-10) and T of SNP (−509C > T TGFB1), had an adjusted odds ratio (OR) of 2.08 (95 % CI 1.475–2.934, p = 0.0001), an OR of 1.70 (95 % CI 1.208–2.404, p = 0.002), an OR of 1.87 (95 % CI 1.332–2.630, p = 0.0001), an OR of 1.67 (95 % CI 1.192–2.353, p = 0.003) and an OR of 1.91 (95 % CI 1.354–2.701, p = 0.0001), respectively, for CC. The burden of carrying two or more of these risk alleles was found to have an additive effect on the risk of CC (p trend = 0.0001). Finally, the serum levels of Th2 and Th3 cytokines were higher in CC cases than the controls; whereas IFNG levels, a Th1 cytokine, were higher in controls than CC cases. The significant associations of five SNPs with CC indicate that these polymorphisms are potential candidates for predicting the risk of development of CC, representing a risk allelic load for CC and can be used as a biomarker of

  5. Botulinum toxin for the treatment of motor imbalance in obstetrical brachial plexus palsy.

    Science.gov (United States)

    Arad, Ehud; Stephens, Derek; Curtis, Christine G; Clarke, Howard M

    2013-06-01

    Residual muscle imbalance is a common problem affecting obstetrical brachial plexus palsy patients. The goal of this study was to examine the efficacy of botulinum toxin type A (Botox) in improving this muscle imbalance. The authors retrospectively reviewed obstetrical brachial plexus palsy patients treated with Botox for muscle imbalance as an isolated procedure. Outcomes were the change in Active Movement Scale scores from pre-Botox scores to scores at 1 month after Botox and 1 year after Botox. Twenty-seven patients were included, 19 treated for shoulder imbalance and eight treated for elbow imbalance. Active Movement Scale scores (mean±SD) for shoulder external rotation improved from 0.6±1.0 before Botox to 2.6±2.14 (pimbalance produces improvement in external rotation that is not sufficiently sustained over time to be of clinical benefit. However, Botox for elbow movement imbalance produces a sustained and clinically useful improvement. Therapeutic, IV.

  6. Reflections on the surface energy imbalance problem

    Science.gov (United States)

    Ray Leuning; Eva van Gorsela; William J. Massman; Peter R. Isaac

    2012-01-01

    The 'energy imbalance problem' in micrometeorology arises because at most flux measurement sites the sum of eddy fluxes of sensible and latent heat (H + λE) is less than the available energy (A). Either eddy fluxes are underestimated or A is overestimated. Reasons for the imbalance are: (1) a failure to satisfy the fundamental assumption of one-...

  7. Computing Thermal Imbalance Forces On Satellites

    Science.gov (United States)

    Vigue, Yvonne; Schutz, Robert E.; Sewell, Granville; Abusali, Pothai A. M.

    1994-01-01

    HEAT.PRO computer program calculates imbalance force caused by heating of surfaces of satellite. Calculates thermal imbalance force and determines its effect on orbit of satellite, especially where shadow cast by Earth Causes periodic changes in thermal environment around satellite. Written in FORTRAN 77.

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

    International Nuclear Information System (INIS)

    Dolthwright-Fasse, J.A.

    1980-01-01

    Studies in two independent, but related, areas of DNA repair have been carried out in the eucaryotic yeast, Saccharomyces cerevisiae. The first is the characterization of a new allele in the RAD6 gene suggesting that the gene is multifunctional. The second is the utilization of photoreactivation as a probe of events occurring during the first cell cycle after DNA damage. Strains carrying the new allele, designated rad6-4, of the RAD6 locus are about as sensitive to uv and ionizing radiation as those carrying rad6-1 or rad6-3. Although rad6-4 may well be a missense mutation, the data suggest that the RAD6 gene is multifunctional. One function is necessary to recover from DNA damage in an error-free manner, and the other is concerned with mutagenic processes and sporulation. The loss of photoreversibility (LOP) of ultraviolet induced mutations to arginine independence in an excision defective strain carrying arg4-17 examines the events occurring in the first cell cycle. The post uv protein synthesis causes pyrimidine dimmers to become inaccessible to the photoreactivating enzyme in some unknown manner. There is no evidence indicating whether the normal function of the protein is involved in excision repair, or in one of the two repair processes believed to be inducible; induced mutagenesis or recombinational repair

  9. 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.

  10. Total hip arthroplasty in patients with neuromuscular imbalance.

    Science.gov (United States)

    Konan, S; Duncan, C P

    2018-01-01

    Patients with neuromuscular imbalance who require total hip arthroplasty (THA) present particular technical problems due to altered anatomy, abnormal bone stock, muscular imbalance and problems of rehabilitation. In this systematic review, we studied articles dealing with THA in patients with neuromuscular imbalance, published before April 2017. We recorded the demographics of the patients and the type of neuromuscular pathology, the indication for surgery, surgical approach, concomitant soft-tissue releases, the type of implant and bearing, pain and functional outcome as well as complications and survival. Recent advances in THA technology allow for successful outcomes in these patients. Our review suggests excellent benefits for pain relief and good functional outcome might be expected with a modest risk of complication. Cite this article: Bone Joint J 2018;100-B(1 Supple A):17-21. ©2018 The British Editorial Society of Bone & Joint Surgery.

  11. Gender Imbalance and Terrorism in Developing Countries

    Science.gov (United States)

    Younas, Javed

    2016-01-01

    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. PMID:28232755

  12. 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.

  13. Different nutritional states and autonomic imbalance in childhood.

    Science.gov (United States)

    Dippacher, S; Willaschek, C; Buchhorn, R

    2014-11-01

    Autonomic imbalance, measured as heart rate variability (HRV), and an increased cardiovascular risk are described for overweight children, as well as for patients with anorexia nervosa. We investigate whether body mass index or actual caloric intake influences HRV. In our cross-sectional study, we compared HRV parameters for a healthy control group (n=52), anorexia nervosa patients (n=17), thin (n=18) and overweight children (n=19). Anorexia nervosa patients showed significantly lower heart rates at night (Pchildren showed an opposing pattern. SDNN and heart rate at night are highly correlated (r=0.89, R(2)=0.79, Panorexia nervosa are characterized by a specific pattern of autonomic imbalance.

  14. 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

  15. 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

  16. 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.

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

    International Nuclear Information System (INIS)

    Cantú de León, David; Yu, Neng; Yunis, Edmond J; Granados, Julio; Pérez-Montiel, Delia; Villavicencio, Verónica; Carranca, Alejandro García; Betancourt, Alejandro Mohar; Acuña-Alonzo, Victor; López-Tello, Alberto; Vargas-Alarcón, Gilberto; Barquera, Rodrigo

    2009-01-01

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

  18. Charge-imbalance fluctuations in superconductors

    International Nuclear Information System (INIS)

    Lemberger, T.R.

    1981-01-01

    We calculate that the mean-square amplitude of the fluctuations of the condensate chemical potential μ/sub s/ due to charge-imbalance fluctuations in the limit Δ/k/sub B/T 2 > = 2(k/sub B/T) 2 /πdeltaΩN(0) in a volume Ω of superconductor. We relate these fluctuations via Nyquist's theorem to measured values of the contribution of self-injected charge imbalance to the dc resistance of SIN tunnel junctions. In this relation the dynamic charge-imbalance relaxation rate is 1/tau/sub E/, the electron-phonon scattering rate

  19. Using Maslow's hierarchy to highlight power imbalances between visiting health professional student volunteers and the host community: An applied qualitative study.

    Science.gov (United States)

    Evans, Tracey; Akporuno, Orezioghene; Owens, Katrina M; Lickers, Brittany; Marlinga, Jazmin; Lin, Henry C; Loh, Lawrence C

    2017-01-01

    Health professional students from high-income countries increasingly participate in short-term experiences in global health (STEGH) conducted abroad. One common criticism of STEGH is the inherent power differential that exists between visiting learners and the local community. To highlight this power differential, this paper explores perceived benefits as described by volunteer and community respondents and applies Maslow's hierarchy of needs to commonly identified themes in each respondent group. A semistructured survey was used to collect qualitative responses from both volunteers and community members located in a Dominican Republic community, that is, a hotspot for traditionally conducted STEGH. Thematic analysis identified themes of perceived benefits from both respondent groups; each group's common themes were then classified and compared within Maslow's hierarchy of needs. Each respondent group identified resource provision as a perceived benefit of STEGH, but volunteer respondents primarily focused on the provision of highly-skilled, complex resources while community respondents focused on basic necessities (food, water, etc.) Volunteer respondents were also the only group to also mention spiritual/religious/life experiences, personal skills development, and relationships as perceived benefits. Applying Maslow's hierarchy thus demonstrates a difference in needs: community respondents focused on benefits that address deficiency needs at the bottom of the hierarchy while volunteers focused on benefits addressing self-transcendence/actualization needs at the top of the hierarchy. The perceived difference in needs met by STEGH between volunteers and the host community within Maslow's hierarchy may drive an inherent power differential. Refocusing STEGH on the relationship level of the hierarchy (i.e., focusing on partnerships) might help mitigate this imbalance and empower host communities.

  20. Effect of magnetic field on charge imbalance relaxation of non-equilibrium superconductivity

    International Nuclear Information System (INIS)

    Tsuboi, Kazuki; Yagi, Ryuta

    2010-01-01

    We have studied relaxation of charge imbalance of non-equilibrium superconductivity in magnetic field. We found that excess current due to charge imbalance showed striking dependence on magnitude of magnetic field and its orientation. We discussed origin of the relaxation.

  1. Clinical relevance of IDH1/2 mutant allele burden during follow-up in acute myeloid leukemia. A study by the French ALFA group

    Science.gov (United States)

    Ferret, Yann; Boissel, Nicolas; Helevaut, Nathalie; Madic, Jordan; Nibourel, Olivier; Marceau-Renaut, Alice; Bucci, Maxime; Geffroy, Sandrine; Celli-Lebras, Karine; Castaigne, Sylvie; Thomas, Xavier; Terré, Christine; Dombret, Hervé; Preudhomme, Claude; Renneville, Aline

    2018-01-01

    Assessment of minimal residual disease has emerged as a powerful prognostic factor in acute myeloid leukemia. In this study, we investigated the potential of IDH1/2 mutations as targets for minimal residual disease assessment in acute myeloid leukemia, since these mutations collectively occur in 15–20% of cases of acute myeloid leukemia and now represent druggable targets. We employed droplet digital polymerase chain reaction assays to quantify IDH1R132, IDH2R140, and IDH2R172 mutations on genomic DNA in 322 samples from 103 adult patients with primary IDH1/2 mutant acute myeloid leukemia and enrolled on Acute Leukemia French Association (ALFA) - 0701 or -0702 clinical trials. The median IDH1/2 mutant allele fraction in bone marrow samples was 42.3% (range, 8.2 – 49.9%) at diagnosis of acute myeloid leukemia, and below the detection limit of 0.2% (range, <0.2 – 39.3%) in complete remission after induction therapy. In univariate analysis, the presence of a normal karyotype, a NPM1 mutation, and an IDH1/2 mutant allele fraction <0.2% in bone marrow after induction therapy were statistically significant predictors of longer disease-free survival. In multivariate analysis, these three variables remained significantly predictive of disease-free survival. In 7/103 (7%) patients, IDH1/2 mutations persisted at high levels in complete remission, consistent with the presence of an IDH1/2 mutation in pre-leukemic hematopoietic stem cells. Five out of these seven patients subsequently relapsed or progressed toward myelodysplastic syndrome, suggesting that patients carrying the IDH1/2 mutation in a pre-leukemic clone may be at high risk of hematologic evolution. PMID:29472349

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

    International Nuclear Information System (INIS)

    Douthwright-Fasse, J.A.

    1979-01-01

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

  3. Redox imbalance due to the loss of mitochondrial NAD(P)-transhydrogenase markedly aggravates high fat diet-induced fatty liver disease in mice.

    Science.gov (United States)

    Navarro, Claudia D C; Figueira, Tiago R; Francisco, Annelise; Dal'Bó, Genoefa A; Ronchi, Juliana A; Rovani, Juliana C; Escanhoela, Cecilia A F; Oliveira, Helena C F; Castilho, Roger F; Vercesi, Anibal E

    2017-12-01

    The mechanisms by which a high fat diet (HFD) promotes non-alcoholic fatty liver disease (NAFLD) appear to involve liver mitochondrial dysfunctions and redox imbalance. We hypothesized that a HFD would increase mitochondrial reliance on NAD(P)-transhydrogenase (NNT) as the source of NADPH for antioxidant systems that counteract NAFLD development. Therefore, we studied HFD-induced liver mitochondrial dysfunctions and NAFLD in C57Unib.B6 congenic mice with (Nnt +/+ ) or without (Nnt -/- ) NNT activity; the spontaneously mutated allele (Nnt -/- ) was inherited from the C57BL/6J mouse substrain. After 20 weeks on a HFD, Nnt -/- mice exhibited a higher prevalence of steatohepatitis and content of liver triglycerides compared to Nnt +/+ mice on an identical diet. Under a HFD, the aggravated NAFLD phenotype in the Nnt -/- mice was accompanied by an increased H 2 O 2 release rate from mitochondria, decreased aconitase activity (a redox-sensitive mitochondrial enzyme) and higher susceptibility to Ca 2+ -induced mitochondrial permeability transition. In addition, HFD led to the phosphorylation (inhibition) of pyruvate dehydrogenase (PDH) and markedly reduced the ability of liver mitochondria to remove peroxide in Nnt -/- mice. Bypass or pharmacological reactivation of PDH by dichloroacetate restored the peroxide removal capability of mitochondria from Nnt -/- mice on a HFD. Noteworthy, compared to mice that were chow-fed, the HFD did not impair peroxide removal nor elicit redox imbalance in mitochondria from Nnt +/+ mice. Therefore, HFD interacted with Nnt mutation to generate PDH inhibition and further suppression of peroxide removal. We conclude that NNT plays a critical role in counteracting mitochondrial redox imbalance, PDH inhibition and advancement of NAFLD in mice fed a HFD. The present study provide seminal experimental evidence that redox imbalance in liver mitochondria potentiates the progression from simple steatosis to steatohepatitis following a HFD. Copyright

  4. The charge imbalance in ultracold plasmas

    International Nuclear Information System (INIS)

    Chen, Tianxing; Lu, Ronghua; Guo, Li; Han, Shensheng

    2016-01-01

    Ultracold plasmas are regarded as quasineutral but not strictly neutral. The results of charge imbalance in the expansion of ultracold plasmas are reported. The calculations are performed by a full molecular-dynamics simulation. The details of the electron velocity distributions are calculated without the assumption of electron global thermal equilibrium and Boltzmann distribution. Spontaneous evolutions of the charge imbalance from the initial states with perfect neutrality are given in the simulations. The expansion of outer plasma slows down with the charge imbalance. The influences of plasma size and parameters on the charge imbalance are discussed. The radial profiles of electron temperature are given for the first time, and the self-similar expansion can still occur even if there is no global thermal equilibrium. The electron disorder induced heating is also found in the simulation.

  5. The charge imbalance in ultracold plasmas

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Tianxing; Lu, Ronghua, E-mail: lurh@siom.ac.cn; Guo, Li; Han, Shensheng [Key Laboratory for Quantum Optics and Center for Cold Atom Physics, Shanghai Institute of Optics and Fine Mechanics, Chinese Academy of Sciences, Shanghai 201800 (China)

    2016-09-15

    Ultracold plasmas are regarded as quasineutral but not strictly neutral. The results of charge imbalance in the expansion of ultracold plasmas are reported. The calculations are performed by a full molecular-dynamics simulation. The details of the electron velocity distributions are calculated without the assumption of electron global thermal equilibrium and Boltzmann distribution. Spontaneous evolutions of the charge imbalance from the initial states with perfect neutrality are given in the simulations. The expansion of outer plasma slows down with the charge imbalance. The influences of plasma size and parameters on the charge imbalance are discussed. The radial profiles of electron temperature are given for the first time, and the self-similar expansion can still occur even if there is no global thermal equilibrium. The electron disorder induced heating is also found in the simulation.

  6. Dynamic Imbalance Would Counter Offcenter Thrust

    Science.gov (United States)

    Mccanna, Jason

    1994-01-01

    Dynamic imbalance generated by offcenter thrust on rotating body eliminated by shifting some of mass of body to generate opposing dynamic imbalance. Technique proposed originally for spacecraft including massive crew module connected via long, lightweight intermediate structure to massive engine module, such that artificial gravitation in crew module generated by rotating spacecraft around axis parallel to thrust generated by engine. Also applicable to dynamic balancing of rotating terrestrial equipment to which offcenter forces applied.

  7. Acute 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

    2015-10-01

    Proximal junctional failure (PJF) is a recognized complication of spinal deformity surgery. Acute PJF (APJF) has recently been demonstrated to be 5.6% in the adult spinal deformity (ASD) population. The incidence and rate of return to the operating room for APJF have not been specifically investigated in individuals with sagittal imbalance. The purpose of this study was to report the incidence of APJF in patients with preoperative sagittal imbalance and the rate of return to the operating room for APJF. This study is based on a retrospective review of prospectively collected database of ASD patients. One hundred seventy-three consecutive patients were included with preoperative sagittal imbalance according to one of the following common parameters: sagittal vertical axis (SVA) greater than 50 mm, global sagittal alignment greater than 45°, or pelvic incidence minus lumbar lordosis greater than 10°. Outcome measure was presence and/or absence of APJF defined as fracture at the upper instrumented vertebra (UIV) or UIV+1, failure of UIV fixation, 15° or more proximal junctional kyphosis, or need for extension of instrumentation within 6 months of surgery. We performed radiographic measurements on X-rays at preoperative, immediate postoperative, and 6-month follow-up visits. The APJF rate was reported for the entire patient population with preoperative sagittal imbalance. Acute PJF incidence was calculated postoperatively for each of the accepted sagittal balance parameters and/or formulas. Patients with persistent postoperative sagittal imbalance were compared with the sagittally balanced group. We also assessed for threshold values. Acute PJF was observed in 60 of 173 patients (35%) and was least common in fusions with the UIV in the upper thoracic (UT) spine (p=.035). Of those who developed APJF, 21.7% required surgery. Proximal junctional kyphosis 15° or more was the most common form of APJF in fusions to the UT spine but least likely to need revision (p=.014

  8. Redox imbalance and mitochondrial abnormalities in the diabetic lung.

    Science.gov (United States)

    Wu, Jinzi; Jin, Zhen; Yan, Liang-Jun

    2017-04-01

    Although the lung is one of the least studied organs in diabetes, increasing evidence indicates that it is an inevitable target of diabetic complications. Nevertheless, the underlying biochemical mechanisms of lung injury in diabetes remain largely unexplored. Given that redox imbalance, oxidative stress, and mitochondrial dysfunction have been implicated in diabetic tissue injury, we set out to investigate mechanisms of lung injury in diabetes. The objective of this study was to evaluate NADH/NAD + redox status, oxidative stress, and mitochondrial abnormalities in the diabetic lung. Using STZ induced diabetes in rat as a model, we measured redox-imbalance related parameters including aldose reductase activity, level of poly ADP ribose polymerase (PAPR-1), NAD + content, NADPH content, reduced form of glutathione (GSH), and glucose 6-phophate dehydrogenase (G6PD) activity. For assessment of mitochondrial abnormalities in the diabetic lung, we measured the activities of mitochondrial electron transport chain complexes I to IV and complex V as well as dihydrolipoamide dehydrogenase (DLDH) content and activity. We also measured the protein content of NAD + dependent enzymes such as sirtuin3 (sirt3) and NAD(P)H: quinone oxidoreductase 1 (NQO1). Our results demonstrate that NADH/NAD + redox imbalance occurs in the diabetic lung. This redox imbalance upregulates the activities of complexes I to IV, but not complex V; and this upregulation is likely the source of increased mitochondrial ROS production, oxidative stress, and cell death in the diabetic lung. These results, together with the findings that the protein contents of DLDH, sirt3, and NQO1 all are decreased in the diabetic lung, demonstrate that redox imbalance, mitochondrial abnormality, and oxidative stress contribute to lung injury in diabetes. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  9. Effort–reward imbalance, overcommitment and their associations with all-cause and mental disorder long-term sick leave – A case-control study of the Swedish working population

    Directory of Open Access Journals (Sweden)

    Ulrik Lidwall

    2016-12-01

    Full Text Available Objectives: To investigate if effort–reward imbalance (ERI and overcommitment (OC are associated with all-cause and mental disorder long-term sick leave (LS, and to identify differences in associations between genders, private versus public sector employees and socioeconomic status groups. Material and Methods: The study uses a cross-sectional case-control design with a sample of 3477 persons on long-term sick leave of more than 59 days and a control group of 2078 in employment. Data on sick leave originate from social insurance registers, while data on health, working and living conditions were gathered through a survey. The binary logistic regression was used to test the multivariate associations. Results: Effort–reward imbalance was associated with all-cause LS among the women (odds ratio (OR = 1.58, 95% CI: 1.2–2.08, but not among the men. Associations for mental disorder LS were evident for both ERI and OC among both genders (ERI/OC: women OR = 2.76/2.82; men OR = 2.18/2.92. For the men these associations were driven by high effort, while for the women it was low job esteem in public sector and low job security in private sector. Among the highly educated women, ERI was strongly related to mental disorder LS (OR = 6.94, 95% CI: 3.2–15.04, while the highly educated men seemed to be strongly affected by OC for the same outcome (OR = 5.79, 95% CI: 1.48–22.57. Conclusions: The study confirmed the independent roles of ERI and OC for LS, with stronger associations among the women and for mental disorders. The ERI model is a promising tool that can contribute to understanding the prevailing gender gap in sick leave and increasing sick leave due to mental disorders. Int J Occup Med Environ Health 2016;29(6:973–989

  10. Quantitative Relationship Between Cumulative Risk Alleles Based on Genome-Wide Association Studies and Type 2 Diabetes Mellitus: A Systematic Review and Meta-analysis

    Directory of Open Access Journals (Sweden)

    Satoru Kodama

    2018-01-01

    Full Text Available Many epidemiological studies have assessed the genetic risk of having undiagnosed or of developing type 2 diabetes mellitus (T2DM using several single nucleotide polymorphisms (SNPs based on findings of genome-wide association studies (GWAS. However, the quantitative association of cumulative risk alleles (RAs of such SNPs with T2DM risk has been unclear. The aim of this meta-analysis is to review the strength of the association between cumulative RAs and T2DM risk. Systematic literature searches were conducted for cross-sectional or longitudinal studies that examined odds ratios (ORs for T2DM in relation to genetic profiles. Logarithm of the estimated OR (log OR of T2DM for 1 increment in RAs carried (1-ΔRA in each study was pooled using a random-effects model. There were 46 eligible studies that included 74,880 cases among 249,365 participants. In 32 studies with a cross-sectional design, the pooled OR for T2DM morbidity for 1-ΔRA was 1.16 (95% confidence interval [CI], 1.13–1.19. In 15 studies that had a longitudinal design, the OR for incident T2DM was 1.10 (95% CI, 1.08–1.13. There was large heterogeneity in the magnitude of log OR (P < 0.001 for both cross-sectional studies and longitudinal studies. The top 10 commonly used genes significantly explained the variance in the log OR (P = 0.04 for cross-sectional studies; P = 0.006 for longitudinal studies. The current meta-analysis indicated that carrying 1-ΔRA in T2DM-associated SNPs was associated with a modest risk of prevalent or incident T2DM, although the heterogeneity in the used genes among studies requires us to interpret the results with caution.

  11. C allele of the rs2209972 single nucleotide polymorphism of the insulin degrading enzyme gene and Alzheimer's disease in type 2 diabetes, a case control study.

    Science.gov (United States)

    Gutiérrez-Hermosillo, Hugo; Díaz De León-González, Enrique; Palacios-Corona, Rebeca; Cedillo-Rodríguez, Javier Armando; Camacho-Luis, Abelardo; Reyes-Romero, Miguel Arturo; Medina-Chávez, Juan Humberto; Blandón, Pedro A

    2015-02-20

    In the last few decades we have witnessed an interesting transformation of the population pyramids throughout the world. As the population's life expectancy increases, there are more chronic diseases such as diabetes mellitus and dementias, and both of them have shown an association. To determine the association between Alzheimer's disease in diabetic patients and the insulin degrading enzyme in outpatients of a second level Hospital in Monterrey, Mexico. This was a case control study in which we included outpatients from the Geriatrics Clinic of a Hospital in Northeastern Mexico. Cases were patients with a Mini Mental Score Exam (MMSE) below 24 and DSM-IV criteria for Dementia. Controls were patients who had MMSE scores greater than 24. Data from 97 patients were analyzed. Regarding physical examination and the results of laboratory tests, there were no differences between the two groups (p>0.05). A 98% prevalence of the insulin degrading enzyme was documented in the sample studied. We found an association between a homozygous status for the CC genotype and Dementia with an estimated Odds Ratio (OR) of 2.5 (CI 95% 1.6-3.3) on the bivariate test, while, on the multivariate analysis, the OR was estimated 3.3 (CI 95% 1.3-8.2). Evidence shows that cognitive impairment is more frequent among those exposed to the C allele of the rs2209972 SNP of the insulin degrading enzyme gene. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  12. Genomic imbalances in syndromic congenital heart disease.

    Science.gov (United States)

    Molck, Miriam Coelho; Simioni, Milena; Paiva Vieira, Társis; Sgardioli, Ilária Cristina; Paoli Monteiro, Fabíola; Souza, Josiane; Fett-Conte, Agnes Cristina; Félix, Têmis Maria; Lopes Monlléo, Isabella; Gil-da-Silva-Lopes, Vera Lúcia

    To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  13. Genome-wide association study uncovers a novel QTL allele of AtS40-3 that affects the sex ratio of cyst nematodes in Arabidopsis.

    Science.gov (United States)

    Anwer, Muhammad Arslan; Anjam, Muhammad Shahzad; Shah, Syed Jehangir; Hasan, M Shamim; Naz, Ali A; Grundler, Florian M W; Siddique, Shahid

    2018-03-24

    Plant-parasitic cyst nematodes are obligate sedentary parasites that infect the roots of a broad range of host plants. Cyst nematodes are sexually dimorphic, but differentiation into male or female is strongly influenced by interactions with the host environment. Female populations typically predominate under favorable conditions, whereas male populations predominate under adverse conditions. Here, we performed a genome-wide association study (GWAS) in an Arabidopsis diversity panel to identify host loci underlying variation in susceptibility to cyst nematode infection. Three different susceptibility parameters were examined, with the aim of providing insights into the infection process, the number of females and males present in the infected plant, and the female-to-male sex ratio. GWAS results suggested that variation in sex ratio is associated with a novel quantitative trait locus allele on chromosome 4. Subsequent candidate genes and functional analyses revealed that a senescence-associated transcription factor, AtS40-3, and PPR may act in combination to influence nematode sex ratio. A detailed molecular characterization revealed that variation in nematode sex ratio was due to the disturbed common promoter of AtS40-3 and PPR genes. Additionally, single nucleotide polymorphisms in the coding sequence of AtS40-3 might contribute to the natural variation in nematode sex ratio.

  14. Investigation of Organizational Work-Life Imbalance of Thai Software Developers in a Multinational Software Development Firm using Fishbone Diagram for Knowledge Management

    OpenAIRE

    N. Mantalay; N. Chakpitak; W. Janchai; P. Sureepong

    2012-01-01

    Work stress causes the organizational work-life imbalance of employees. Because of this imbalance, workers perform with lower effort to finish assignments and thus an organization will experience reduced productivity. In order to investigate the problem of an organizational work-life imbalance, this qualitative case study focuses on an organizational work-life imbalance among Thai software developers in a German-owned company in Chiang Mai, Thailand. In terms of knowledge...

  15. Database for the ampC alleles in Acinetobacter baumannii.

    Directory of Open Access Journals (Sweden)

    Nabil Karah

    Full Text Available Acinetobacter baumannii is a troublesome opportunistic pathogen with a high capacity for clonal dissemination. We announce the establishment of a database for the ampC locus in A. baumannii, in which novel ampC alleles are differentiated based on the occurrence of ≥ 1 nucleotide change, regardless of whether it is silent or missense. The database is openly accessible at the pubmlst platform for A. baumannii (http://pubmlst.org/abaumannii/. Forty-eight distinctive alleles of the ampC locus have so far been identified and deposited in the database. Isolates from clonal complex 1 (CC1, according to the Pasteur multilocus sequence typing scheme, had a variety of the ampC locus alleles, including alleles 1, 3, 4, 5, 6, 7, 8, 13, 14, 17, and 18. On the other hand, isolates from CC2 had the ampC alleles 2, 3, 19, 20, 21, 22, 23, 24, 26, 27, 28, and 46. Allele 3 was characteristic for sequence types ST3 or ST32. The ampC alleles 10, 16, and 25 were characteristic for CC10, ST16, and CC25, respectively. Our study points out that novel gene databases, in which alleles are numbered based on differences in their nucleotide identities, should replace traditional records that use amino acid substitutions to define new alleles.

  16. 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

  17. RHD alleles in the Tunisian population

    Science.gov (United States)

    Ouchari, Mouna; Jemni-Yaacoub, Saloua; Chakroun, Taher; Abdelkefi, Saida; Houissa, Batoul; Hmida, Slama

    2013-01-01

    Background: A comprehensive survey of RHD alleles in Tunisia population was lacking. The aim of this study was to use a multiplex RHD typing assay for simultaneous detection of partial D especially with RHD/RHCE deoxyribonucleic acid (DNA) sequence exchange mechanism and some weak D alleles. Materials and Methods: Six RHD specific primer sets were designed to amplify RHD exons 3, 4, 5, 6, 7 and 9. DNA from 2000 blood donors (1777 D+ and 223 D-) from several regions was selected for RHD genotyping using a PCR multiplex assay. Further molecular investigations were done to characterize the RHD variants that were identified by the PCR multiplex assay. Results: In the 1777 D+ samples, only 10 individuals showed the absence of amplification of exons 4 and 5 that were subsequently identified by PCR-SSP as weak D type 4 variants. No hybrid allele was detected. In the 223 D-, RHD amplification of some exons was observed only in 5 samples: 4 individuals expressed only RHD exon 9, and one subject lacking exons 4 and 5. These samples were then screened by PCR-SSPs on d(C) ces and weak D type 4, respectively. Conclusion: The weak D type 4 appears to be the most common D variant allele. We have not found any partial D variant. Findings also indicated that RHD gene deletion is the most prevalent cause of the D- phenotype in the Tunisian population. PMID:24014941

  18. Comparative frequency and allelic distribution of ABO and Rh (D ...

    African Journals Online (AJOL)

    Background: Allelic distribution of major blood groups (ABO and rhesus) has not been defined in Bangladeshi population. Determinants of blood group frequency in this region have not been studied properly. Aim: To determine ABO and rhesus blood group frequency and allelic distribution in a multiethnic area of ...

  19. Apolipoprotein E4 allele does not influence serum triglyceride ...

    African Journals Online (AJOL)

    This study investigated how the APOε4 allele affects the serum triglyceride response after a fatmeal in apparently healthy black South African young adults. Sixty students were successfully screened for APOE genotype using Restriction Fragment Length Polymorphism (RFLP) and were divided into four groups; the ε2 allele ...

  20. Modified Mahalanobis Taguchi System for Imbalance Data Classification

    Directory of Open Access Journals (Sweden)

    Mahmoud El-Banna

    2017-01-01

    Full Text Available The Mahalanobis Taguchi System (MTS is considered one of the most promising binary classification algorithms to handle imbalance data. Unfortunately, MTS lacks a method for determining an efficient threshold for the binary classification. In this paper, a nonlinear optimization model is formulated based on minimizing the distance between MTS Receiver Operating Characteristics (ROC curve and the theoretical optimal point named Modified Mahalanobis Taguchi System (MMTS. To validate the MMTS classification efficacy, it has been benchmarked with Support Vector Machines (SVMs, Naive Bayes (NB, Probabilistic Mahalanobis Taguchi Systems (PTM, Synthetic Minority Oversampling Technique (SMOTE, Adaptive Conformal Transformation (ACT, Kernel Boundary Alignment (KBA, Hidden Naive Bayes (HNB, and other improved Naive Bayes algorithms. MMTS outperforms the benchmarked algorithms especially when the imbalance ratio is greater than 400. A real life case study on manufacturing sector is used to demonstrate the applicability of the proposed model and to compare its performance with Mahalanobis Genetic Algorithm (MGA.

  1. Metabolic disorders in adipocytokine imbalance and gestational complications

    Directory of Open Access Journals (Sweden)

    Natalya B. Chabanova

    2017-06-01

    Full Text Available Adipose tissue as an endocrine organ synthesizes a large number of biologically active substances, adipocytokines, which have both local and systemic effects influencing the vascular wall, tissue sensitivity to insulin, glucose metabolism, and systemic inflammation. The data obtained from clinical and experimental studies demonstrate the close relationship between the imbalance of adipocytokines and pregnancy complications such as insulin resistance, gestational diabetes, and preeclampsia. In this connection, close attention of obstetrician-gynecologists and endocrinologists is focused on etiopathogenic aspects of the formation of gestational complications with metabolic disorders caused by an imbalance of adipocytokines with maternal obesity and to the search for markers of these disorders. The review presents the current literature data on adipose tissue hormones and their influence on the course of a gestational process.

  2. Modified Mahalanobis Taguchi System for Imbalance Data Classification

    Science.gov (United States)

    2017-01-01

    The Mahalanobis Taguchi System (MTS) is considered one of the most promising binary classification algorithms to handle imbalance data. Unfortunately, MTS lacks a method for determining an efficient threshold for the binary classification. In this paper, a nonlinear optimization model is formulated based on minimizing the distance between MTS Receiver Operating Characteristics (ROC) curve and the theoretical optimal point named Modified Mahalanobis Taguchi System (MMTS). To validate the MMTS classification efficacy, it has been benchmarked with Support Vector Machines (SVMs), Naive Bayes (NB), Probabilistic Mahalanobis Taguchi Systems (PTM), Synthetic Minority Oversampling Technique (SMOTE), Adaptive Conformal Transformation (ACT), Kernel Boundary Alignment (KBA), Hidden Naive Bayes (HNB), and other improved Naive Bayes algorithms. MMTS outperforms the benchmarked algorithms especially when the imbalance ratio is greater than 400. A real life case study on manufacturing sector is used to demonstrate the applicability of the proposed model and to compare its performance with Mahalanobis Genetic Algorithm (MGA). PMID:28811820

  3. Vorticity imbalance and stability in relation to convection

    Science.gov (United States)

    Read, W. L.; Scoggins, J. R.

    1977-01-01

    A complete synoptic-scale vorticity budget was related to convection storm development in the eastern two-thirds of the United States. The 3-h sounding interval permitted a study of time changes of the vorticity budget in areas of convective storms. Results of analyses revealed significant changes in values of terms in the vorticity equation at different stages of squall line development. Average budgets for all areas of convection indicate systematic imbalance in the terms in the vorticity equation. This imbalance resulted primarily from sub-grid scale processes. Potential instability in the lower troposphere was analyzed in relation to the development of convective activity. Instability was related to areas of convection; however, instability alone was inadequate for forecast purposes. Combinations of stability and terms in the vorticity equation in the form of indices succeeded in depicting areas of convection better than any one item separately.

  4. Lunch eating predicts weight-loss effectiveness in carriers of the common allele at PERILIPIN1: the ONTIME (Obesity, Nutrigenetics, Timing, Mediterranean) study.

    Science.gov (United States)

    Garaulet, Marta; Vera, Beatriz; Bonnet-Rubio, Gemma; Gómez-Abellán, Purificación; Lee, Yu-Chi; Ordovás, José M

    2016-10-01

    We propose that eating lunch late impairs the mobilization of fat from adipose tissue, particularly in carriers of PERILIPIN1 (PLIN1) variants. The aim was to test the hypothesis that PLIN1, a circadian lipid-stabilizing protein in the adipocyte, interacts with the timing of food intake to affect weight loss. A total of 1287 overweight and obese subjects [229 men and 1058 women; mean ± SD body mass index (in kg/m 2 ): 31 ± 5] who attended outpatient obesity clinics were enrolled in the ONTIME (Obesity, Nutrigenetics, Timing, Mediterranean) study. Timing of food intake was estimated with a validated questionnaire. Anthropometric variables and PLIN1 genotypes were analyzed, including 6209T>C (rs2289487), 11482G>A (rs894160), 13041A>G (rs2304795), and 14995A>T (rs1052700). The main outcomes were effectiveness of the program and weight-loss progression during 28 wk of treatment. The PLIN1 locus was associated with variability in response to a weight-loss program. Specifically, carrying the minor C allele at the PLIN1 6209T>C was associated with better weight-loss response (P = 0.035). The probability of being a better responder [percentage of weight loss ≥7.5% (median)] was 33% higher among C than among TT carriers (OR: 1.32; 95% CI: 1.05, 1.67; P = 0.017). We found an interaction of PLIN1 × food timing between the 14995A>T variant and timing of lunch eating for total weight loss (P = 0.035). Among AA carriers, eating late was associated with less weight loss (P T variant. These results contribute to our ability to implement more precise and successful obesity treatments. The ONTIME study was registered at clinicaltrials.gov as NCT02829619. © 2016 American Society for Nutrition.

  5. Effort-reward imbalance, overcommitment and their associations with all-cause and mental disorder long-term sick leave - A case-control study of the Swedish working population.

    Science.gov (United States)

    Lidwall, Ulrik

    2016-11-18

    To investigate if effort-reward imbalance (ERI) and overcommitment (OC) are associated with all-cause and mental disorder long-term sick leave (LS), and to identify differences in associations between genders, private versus public sector employees and socioeconomic status groups. The study uses a cross-sectional case-control design with a sample of 3477 persons on long-term sick leave of more than 59 days and a control group of 2078 in employment. Data on sick leave originate from social insurance registers, while data on health, working and living conditions were gathered through a survey. The binary logistic regression was used to test the multivariate associations. Effort-reward imbalance was associated with all-cause LS among the women (odds ratio (OR) = 1.58, 95% CI: 1.2-2.08), but not among the men. Associations for mental disorder LS were evident for both ERI and OC among both genders (ERI/OC: women OR = 2.76/2.82; men OR = 2.18/2.92). For the men these associations were driven by high effort, while for the women it was low job esteem in public sector and low job security in private sector. Among the highly educated women, ERI was strongly related to mental disorder LS (OR = 6.94, 95% CI: 3.2-15.04), while the highly educated men seemed to be strongly affected by OC for the same outcome (OR = 5.79, 95% CI: 1.48-22.57). The study confirmed the independent roles of ERI and OC for LS, with stronger associations among the women and for mental disorders. The ERI model is a promising tool that can contribute to understanding the prevailing gender gap in sick leave and increasing sick leave due to mental disorders. Int J Occup Med Environ Health 2016;29(6):973-989. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  6. Ocean heat content and Earth's radiation imbalance

    International Nuclear Information System (INIS)

    Douglass, David H.; Knox, Robert S.

    2009-01-01

    Earth's radiation imbalance is determined from ocean heat content data and compared with results of direct measurements. Distinct time intervals of alternating positive and negative values are found: 1960-mid-1970s (-0.15), mid-1970s-2000 (+0.15), 2001-present (-0.2 W/m 2 ), and are consistent with prior reports. These climate shifts limit climate predictability.

  7. Flywheels Would Compensate for Rotor Imbalance

    Science.gov (United States)

    Hrastar, J. A. S.

    1982-01-01

    Spinning flywheels within rotor can null imbalance forces in rotor. Flywheels axes are perpendicular to each other and to rotor axis. Feedback signals from accelerometers or strain gages in platform control flywheel speeds and rotation directions. Concept should be useful for compensating rotating bodies on Earth. For example, may be applied to large industrial centrifuge, particularly if balance changes during operation.

  8. Evaluation of electrolyte imbalance among tuberculosis patients ...

    African Journals Online (AJOL)

    Adebimpe Wasiu Olalekan

    2015-02-24

    Feb 24, 2015 ... a Department of Community Medicine, College of Health Sciences, Osun State University Osogbo, ... trolyte imbalance among TB patients receiving treatments. ... mental organizations whose presence could be felt in the areas ... anti tuberculous drugs with 11 males and 09 females. ... workers in the facility.

  9. Imbalance between abstract and concrete repetitive thinking modes in schizophrenia.

    Science.gov (United States)

    Maurage, Pierre; Philippot, Pierre; Grynberg, Delphine; Leleux, Dominique; Delatte, Benoît; Mangelinckx, Camille; Belge, Jan-Baptist; Constant, Eric

    2017-10-01

    Repetitive thoughts can be divided in two modes: abstract/analytic (decontextualized and dysfunctional) and concrete/experiential (problem-focused and adaptive). They constitute a transdiagnostic process involved in many psychopathological states but have received little attention in schizophrenia, as earlier studies only indexed increased ruminations (related to dysfunctional repetitive thoughts) without jointly exploring both modes. This study explored the two repetitive thinking modes, beyond ruminations, to determine their imbalance in schizophrenia. Thirty stabilized patients with schizophrenia and 30 matched controls completed the Repetitive Response Scale and the Mini Cambridge-Exeter Repetitive Thought Scale, both measuring repetitive thinking modes. Complementary measures related to schizophrenic symptomatology, depression and anxiety were also conducted. Compared to controls, patients with schizophrenia presented an imbalance between repetitive thinking modes, with increased abstract/analytic and reduced concrete/experiential thoughts, even after controlling for comorbidities. Schizophrenia is associated with stronger dysfunctional repetitive thoughts (i.e. abstract thinking) and impaired ability to efficiently use repetitive thinking for current problem-solving (i.e. concrete thinking). This imbalance confirms the double-faced nature of repetitive thinking modes, whose influence on schizophrenia's symptomatology should be further investigated. The present results also claim for evaluating these processes in clinical settings and for rehabilitating the balance between opposite repetitive thinking modes. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Konstantina P. Poulianiti

    2016-01-01

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

  12. 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. © 2014 Wiley Periodicals, Inc.

  13. 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. Copyright © 2013 John Wiley & Sons, Ltd.

  14. Human minisatellite alleles detectable only after PCR amplification.

    Science.gov (United States)

    Armour, J A; Crosier, M; Jeffreys, A J

    1992-01-01

    We present evidence that a proportion of alleles at two human minisatellite loci is undetected by standard Southern blot hybridization. In each case the missing allele(s) can be identified after PCR amplification and correspond to tandem arrays too short to detect by hybridization. At one locus, there is only one undetected allele (population frequency 0.3), which contains just three repeat units. At the second locus, there are at least five undetected alleles (total population frequency 0.9) containing 60-120 repeats; they are not detected because these tandem repeats give very poor signals when used as a probe in standard Southern blot hybridization, and also cross-hybridize with other sequences in the genome. Under these circumstances only signals from the longest tandemly repeated alleles are detectable above the nonspecific background. The structures of these loci have been compared in human and primate DNA, and at one locus the short human allele containing three repeat units is shown to be an intermediate state in the expansion of a monomeric precursor allele in primates to high copy number in the longer human arrays. We discuss the implications of such loci for studies of human populations, minisatellite isolation by cloning, and the evolution of highly variable tandem arrays.

  15. 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

  16. Functional shoulder ratios with high velocities of shoulder internal rotation are most sensitive to determine shoulder rotation torque imbalance: a cross-sectional study with elite handball players and controls.

    Science.gov (United States)

    Castro, Marcelo Peduzzi de; Fonseca, Pedro; Morais, Sara Tribuzi; Borgonovo-Santos, Márcio; Coelho, Eduardo Filipe Cruz; Ribeiro, Daniel Cury; Vilas-Boas, João Paulo

    2017-12-04

    The aim of the present study was to determine which approach to calculating shoulder ratios is the most sensitive for determining shoulder torque imbalance in handball players. Twenty-six participants (handball athletes, n = 13; healthy controls, n = 13) performed isokinetic concentric and eccentric shoulder internal rotation (IR) and external rotation (ER) assessment at 60, 180 and 300°/s. We used eight approaches to calculating shoulder ratios: four concentric (i.e. concentric ER torque divided by concentric IR torque), and four functional (i.e. eccentric ER torque divided by concentric IR torque) at the velocities of 60, 180 and 300°/s for both IR and ER, and combining 60°/s of ER and 300°/s of IR. A three factorial ANOVA (factors: shoulder ratios, upper limb sides, and groups) along with Tukey's post-hoc analysis, and effect sizes were calculated. The findings suggested the functional shoulder ratio combining 60°/s of ER and 300°/s of IR is the most sensitive to detect differences between upper limbs for handball players, and between players and controls for the dominant side. The functional shoulder ratio combining 60°/s of ER with 300°/s of IR seems to present advantages over the other approaches for identifying upper limb asymmetries and differences in shoulder torque balance related to throwing.

  17. Examining Longitudinal Relationship among Effort Reward Imbalance, Coping Strategies and Academic Burnout in Korean Middle School Students

    Science.gov (United States)

    Kim, Boyoung; Kim, Eunjoo; Lee, Sang Min

    2017-01-01

    The present study examined the longitudinal relationship between effort-reward imbalance as a stressor and academic burnout as a strain. The study also examined the moderation effect of coping strategies, a problem-focused coping and an emotion-focused coping, in the relationship between effort-reward imbalance as a stressor and middle school…

  18. Effort–Reward Imbalance at Work and Incident Coronary Heart Disease

    Science.gov (United States)

    Siegrist, Johannes; Nyberg, Solja T.; Lunau, Thorsten; Fransson, Eleonor I.; Alfredsson, Lars; Bjorner, Jakob B.; Borritz, Marianne; Burr, Hermann; Erbel, Raimund; Fahlén, Göran; Goldberg, Marcel; Hamer, Mark; Heikkilä, Katriina; Jöckel, Karl-Heinz; Knutsson, Anders; Madsen, Ida E. H.; Nielsen, Martin L.; Nordin, Maria; Oksanen, Tuula; Pejtersen, Jan H.; Pentti, Jaana; Rugulies, Reiner; Salo, Paula; Schupp, Jürgen; Singh-Manoux, Archana; Steptoe, Andrew; Theorell, Töres; Vahtera, Jussi; Westerholm, Peter J. M.; Westerlund, Hugo; Virtanen, Marianna; Zins, Marie; Batty, G. David; Kivimäki, Mika

    2017-01-01

    Background: Epidemiologic evidence for work stress as a risk factor for coronary heart disease is mostly based on a single measure of stressful work known as job strain, a combination of high demands and low job control. We examined whether a complementary stress measure that assesses an imbalance between efforts spent at work and rewards received predicted coronary heart disease. Methods: This multicohort study (the “IPD-Work” consortium) was based on harmonized individual-level data from 11 European prospective cohort studies. Stressful work in 90,164 men and women without coronary heart disease at baseline was assessed by validated effort–reward imbalance and job strain questionnaires. We defined incident coronary heart disease as the first nonfatal myocardial infarction or coronary death. Study-specific estimates were pooled by random effects meta-analysis. Results: At baseline, 31.7% of study members reported effort–reward imbalance at work and 15.9% reported job strain. During a mean follow-up of 9.8 years, 1,078 coronary events were recorded. After adjustment for potential confounders, a hazard ratio of 1.16 (95% confidence interval, 1.00–1.35) was observed for effort–reward imbalance compared with no imbalance. The hazard ratio was 1.16 (1.01–1.34) for having either effort–reward imbalance or job strain and 1.41 (1.12–1.76) for having both these stressors compared to having neither effort–reward imbalance nor job strain. Conclusions: Individuals with effort–reward imbalance at work have an increased risk of coronary heart disease, and this appears to be independent of job strain experienced. These findings support expanding focus beyond just job strain in future research on work stress. PMID:28570388

  19. 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.

  20. 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...

  1. 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.

  2. 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...

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

    KAUST Repository

    Qi, Jian; Aissa, Sonia; Alouini, Mohamed-Slim

    2012-01-01

    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.

  4. 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...... of ammonia or long chain fatty acids is in most cases expected to be the cause of microbial inhibitions/imbalances while foaming in the prestorage tanks and digesters is the most important practical process problem at the plants. A correlation between increased residual biogas production (suboptimal process...... conditions) and high fractions of industrial waste in the feedstock was also observed. The process imbalances and suboptimal conditions are mainly allowed to occur due to 1) inadequate knowledge about the waste composition, 2) inadequate knowledge about the waste degradation characteristics, 3) inadequate...

  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. 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.

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

    International Nuclear Information System (INIS)

    Ghilardi, Adrian; Guerrero, Gabriela; Masera, Omar

    2009-01-01

    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 -1 to 4.4 ± 2.6 Gg y -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)

  8. Bomb radiocarbon: imbalance in the budget

    International Nuclear Information System (INIS)

    Joos, Fortunat

    1994-01-01

    An improved understanding of the global carbon cycle is crucial to global climate change research. The uncertainties surrounding the level of oceanic carbon uptake are discussed. A revision downwards of 25% in the currently accepted figure is suggested by authors who base their estimates on a new analysis of the oceanic uptake of radiocarbon released in the atomic bomb tests of the late 1950s and early 1960s. The reduction in uptake level is required to take account of a global imbalance in the bomb-radiocarbon budget in the post test-ban period which emerges from recent carbon-cycle models. Large uncertainties exist in the estimate of the imbalance, however, and bomb-radiocarbon and anthropogenic CO 2 do not behave identically. Any revision of CO 2 uptake estimates may be substantially smaller than the 25% put forward for the bomb-radiocarbon inventory. (UK)

  9. Imbalance in the Local Galactic halo?

    International Nuclear Information System (INIS)

    Croswell, K.; Latham, D.W.; Carney, B.W.; North Carolina Univ., Chapel Hill)

    1987-01-01

    In a kinematically biased sample of 119 single halo stars, 65 percent of the stars are traveling away from the plane of the Galaxy. Halo spectroscopic binaries do not show this imbalance. Other kinematically biased halo surveys exhibit the same effect. Combining these samples with those of the authors' results in 223 halo stars, 63 percent of which are heading away from the plane of the Galaxy. The probability that the first result could be obtained from a symmetric w velocity distribution is 0.2 percent; the probability that the second result could be so obtained is 0.02 percent. Single halo stars traveling away from the disk appear to have a larger w velocity dispersion than those traveling toward it. Selection effects are analyzed and rejected as the cause of the observed asymmetry. Possible mechanisms for producing the imbalance are discussed, but each has serious difficulties accounting for the observations. 28 references

  10. Assigning breed origin to alleles in crossbred animals.

    Science.gov (United States)

    Vandenplas, Jérémie; Calus, Mario P L; Sevillano, Claudia A; Windig, Jack J; Bastiaansen, John W M

    2016-08-22

    For some species, animal production systems are based on the use of crossbreeding to take advantage of the increased performance of crossbred compared to purebred animals. Effects of single nucleotide polymorphisms (SNPs) may differ between purebred and crossbred animals for several reasons: (1) differences in linkage disequilibrium between SNP alleles and a quantitative trait locus; (2) differences in genetic backgrounds (e.g., dominance and epistatic interactions); and (3) differences in environmental conditions, which result in genotype-by-environment interactions. Thus, SNP effects may be breed-specific, which has led to the development of genomic evaluations for crossbred performance that take such effects into account. However, to estimate breed-specific effects, it is necessary to know breed origin of alleles in crossbred animals. Therefore, our aim was to develop an approach for assigning breed origin to alleles of crossbred animals (termed BOA) without information on pedigree and to study its accuracy by considering various factors, including distance between breeds. The BOA approach consists of: (1) phasing genotypes of purebred and crossbred animals; (2) assigning breed origin to phased haplotypes; and (3) assigning breed origin to alleles of crossbred animals based on a library of assigned haplotypes, the breed composition of crossbred animals, and their SNP genotypes. The accuracy of allele assignments was determined for simulated datasets that include crosses between closely-related, distantly-related and unrelated breeds. Across these scenarios, the percentage of alleles of a crossbred animal that were correctly assigned to their breed origin was greater than 90 %, and increased with increasing distance between breeds, while the percentage of incorrectly assigned alleles was always less than 2 %. For the remaining alleles, i.e. 0 to 10 % of all alleles of a crossbred animal, breed origin could not be assigned. The BOA approach accurately assigns

  11. Allostatic Load and Effort-Reward Imbalance: Associations over the Working-Career.

    Science.gov (United States)

    Coronado, José Ignacio Cuitún; Chandola, Tarani; Steptoe, Andrew

    2018-01-24

    Although associations between work stressors and stress-related biomarkers have been reported in cross-sectional studies, the use of single time measurements of work stressors could be one of the reasons for inconsistent associations. This study examines whether repeated reports of work stress towards the end of the working career predicts allostatic load, a measure of chronic stress related physiological processes. Data from waves 2 to 6 of the English Longitudinal Study of Ageing (ELSA) were analysed, with a main analytical sample of 2663 older adults (aged 50+) who had at least one measurement of effort-reward imbalance between waves 2-6 and a measurement of allostatic load at wave 6. Cumulative work stress over waves 2-6 were measured by the effort-reward imbalance model. ELSA respondents who had reported two or more occasions of imbalance had a higher (0.3) estimate of the allostatic load index than those who did not report any imbalance, controlling for a range of health and socio-demographic factors, as well as allostatic load at baseline. More recent reports of imbalance were significantly associated with a higher allostatic load index, whereas reports of imbalance from earlier waves of ELSA were not. The accumulation of work related stressors could have adverse effects on chronic stress biological processes.

  12. Allostatic Load and Effort-Reward Imbalance: Associations over the Working-Career

    Directory of Open Access Journals (Sweden)

    José Ignacio Cuitún Coronado

    2018-01-01

    Full Text Available Although associations between work stressors and stress-related biomarkers have been reported in cross-sectional studies, the use of single time measurements of work stressors could be one of the reasons for inconsistent associations. This study examines whether repeated reports of work stress towards the end of the working career predicts allostatic load, a measure of chronic stress related physiological processes. Data from waves 2 to 6 of the English Longitudinal Study of Ageing (ELSA were analysed, with a main analytical sample of 2663 older adults (aged 50+ who had at least one measurement of effort-reward imbalance between waves 2–6 and a measurement of allostatic load at wave 6. Cumulative work stress over waves 2–6 were measured by the effort-reward imbalance model. ELSA respondents who had reported two or more occasions of imbalance had a higher (0.3 estimate of the allostatic load index than those who did not report any imbalance, controlling for a range of health and socio-demographic factors, as well as allostatic load at baseline. More recent reports of imbalance were significantly associated with a higher allostatic load index, whereas reports of imbalance from earlier waves of ELSA were not. The accumulation of work related stressors could have adverse effects on chronic stress biological processes.

  13. Fiscal Imbalances, Poverty and Inequality in Pakistan

    OpenAIRE

    Irfan Ullah - Naimatullah Baber

    2014-01-01

    This paper has analyzed the fiscal imbalances, poverty and inequality with relevance to Pakistan. We use time series data from 1981 to 2010 and employ Autoregressive Distributed Lag Model (ARDL) to cointegration for estimation. The empirical findings suggest that fiscal deficits increase the poverty level and provide biases for inequality. Since deficit is financed through money supply, government debt and indirect taxes which threaten the purchasing power of the poor and drag them towards po...

  14. 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...

  15. Higher effort-reward imbalance and lower job control predict exit from the labour market at the age of 61 years or younger: evidence from the English Longitudinal Study of Ageing.

    Science.gov (United States)

    Hintsa, T; Kouvonen, A; McCann, M; Jokela, M; Elovainio, M; Demakakos, P

    2015-06-01

    We examined whether higher effort-reward imbalance (ERI) and lower job control are associated with exit from the labour market. There were 1263 participants aged 50-74 years from the English Longitudinal Study on Ageing with data on working status and work-related psychosocial factors at baseline (wave 2; 2004-2005), and working status at follow-up (wave 5; 2010-2011). Psychosocial factors at work were assessed using a short validated version of ERI and job control. An allostatic load index was formed using 13 biological parameters. Depressive symptoms were measured using the Center for Epidemiologic Studies Depression Scale. Exit from the labour market was defined as not working in the labour market when 61 years old or younger in 2010-2011. Higher ERI OR=1.62 (95% CI 1.01 to 2.61, p=0.048) predicted exit from the labour market independent of age, sex, education, occupational class, allostatic load and depression. Job control OR=0.60 (95% CI 0.42 to 0.85, p=0.004) was associated with exit from the labour market independent of age, sex, education, occupation and depression. The association of higher effort OR=1.32 (95% CI 1.01 to 1.73, p=0.045) with exit from the labour market was independent of age, sex and depression but attenuated to non-significance when additionally controlling for socioeconomic measures. Reward was not related to exit from the labour market. Stressful work conditions can be a risk for exiting the labour market before the age of 61 years. Neither socioeconomic position nor allostatic load and depressive symptoms seem to explain this association. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  16. Higher effort–reward imbalance and lower job control predict exit from the labour market at the age of 61 years or younger: evidence from the English Longitudinal Study of Ageing

    Science.gov (United States)

    Hintsa, T; Kouvonen, A; McCann, M; Jokela, M; Elovainio, M; Demakakos, P

    2015-01-01

    Background We examined whether higher effort–reward imbalance (ERI) and lower job control are associated with exit from the labour market. Methods There were 1263 participants aged 50–74 years from the English Longitudinal Study on Ageing with data on working status and work-related psychosocial factors at baseline (wave 2; 2004–2005), and working status at follow-up (wave 5; 2010–2011). Psychosocial factors at work were assessed using a short validated version of ERI and job control. An allostatic load index was formed using 13 biological parameters. Depressive symptoms were measured using the Center for Epidemiologic Studies Depression Scale. Exit from the labour market was defined as not working in the labour market when 61 years old or younger in 2010–2011. Results Higher ERI OR=1.62 (95% CI 1.01 to 2.61, p=0.048) predicted exit from the labour market independent of age, sex, education, occupational class, allostatic load and depression. Job control OR=0.60 (95% CI 0.42 to 0.85, p=0.004) was associated with exit from the labour market independent of age, sex, education, occupation and depression. The association of higher effort OR=1.32 (95% CI 1.01 to 1.73, p=0.045) with exit from the labour market was independent of age, sex and depression but attenuated to non-significance when additionally controlling for socioeconomic measures. Reward was not related to exit from the labour market. Conclusions Stressful work conditions can be a risk for exiting the labour market before the age of 61 years. Neither socioeconomic position nor allostatic load and depressive symptoms seem to explain this association. PMID:25631860

  17. Population imbalance as a vortex catalyst in Fermi superfluids

    International Nuclear Information System (INIS)

    Tempere, J.; Devreese, J.T.

    2008-01-01

    Pairing leads to superfluidity in ultracold atomic gases, but this pairing can be frustrated when a population imbalance is present between the pairing partners. Here we investigate how vortices in the fermionic superfluid are affected by imbalance. We show that the vortex core radius is increased by imbalance, accommodating excess component atoms. This has two intriguing consequences. Firstly, a small imbalance acts as a catalyst for vortex formation, decreasing the critical rotation frequency. Secondly, imbalanced gases near critical imbalance can exhibit rotationally induced superfluidity

  18. Examining postconcussion symptoms of dizziness and imbalance on neurocognitive performance in collegiate football players.

    Science.gov (United States)

    Honaker, Julie A; Lester, Houston F; Patterson, Jessie N; Jones, Sherri M

    2014-07-01

    This study examined the effects of symptom reports of dizziness and imbalance on cognitive function in concussed collegiate football players. Retrospective, descriptive. University athletic medicine facility. Twenty-seven collegiate football players were included in the final analysis: 16 with symptoms of dizziness/imbalance resulting from concussion and 11 without dizziness/imbalance resulting from concussion. Participants completed the Immediate Postconcussion Assessment and Cognitive Testing (ImPACT) at baseline, at 1 to 2 days postconcussion and 5 to 7 days postconcussion. The ImPACT neurocognitive assessment consists of 6 modules, yielding 4 composite scores: verbal memory, visual memory, visual-motor processing speed, and reaction time. In addition, it includes a postconcussion symptom scale total score. Results revealed that participants with reports of dizziness and imbalance had significantly lower scores on the ImPACT composite scores; however, these individuals also had an overall higher symptom inventory. When accounting for the additional postconcussion symptoms, time was the only significant effect. Dizziness and imbalance are common symptoms postconcussion; however, these symptoms did not predict performance on acute ImPACT scores. Further research is needed to understand the mechanisms causing postconcussion symptoms, including symptoms of dizziness and imbalance, and influence on outcomes postconcussion.

  19. 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.

  20. Tree imbalance causes a bias in phylogenetic estimation of evolutionary timescales using heterochronous sequences.

    Science.gov (United States)

    Duchêne, David; Duchêne, Sebastian; Ho, Simon Y W

    2015-07-01

    Phylogenetic estimation of evolutionary timescales has become routine in biology, forming the basis of a wide range of evolutionary and ecological studies. However, there are various sources of bias that can affect these estimates. We investigated whether tree imbalance, a property that is commonly observed in phylogenetic trees, can lead to reduced accuracy or precision of phylogenetic timescale estimates. We analysed simulated data sets with calibrations at internal nodes and at the tips, taking into consideration different calibration schemes and levels of tree imbalance. We also investigated the effect of tree imbalance on two empirical data sets: mitogenomes from primates and serial samples of the African swine fever virus. In analyses calibrated using dated, heterochronous tips, we found that tree imbalance had a detrimental impact on precision and produced a bias in which the overall timescale was underestimated. A pronounced effect was observed in analyses with shallow calibrations. The greatest decreases in accuracy usually occurred in the age estimates for medium and deep nodes of the tree. In contrast, analyses calibrated at internal nodes did not display a reduction in estimation accuracy or precision due to tree imbalance. Our results suggest that molecular-clock analyses can be improved by increasing taxon sampling, with the specific aims of including deeper calibrations, breaking up long branches and reducing tree imbalance. © 2014 John Wiley & Sons Ltd.

  1. Vibration-Induced Errors in MEMS Tuning Fork Gyroscopes with Imbalance.

    Science.gov (United States)

    Fang, Xiang; Dong, Linxi; Zhao, Wen-Sheng; Yan, Haixia; Teh, Kwok Siong; Wang, Gaofeng

    2018-05-29

    This paper discusses the vibration-induced error in non-ideal MEMS tuning fork gyroscopes (TFGs). Ideal TFGs which are thought to be immune to vibrations do not exist, and imbalance between two gyros of TFGs is an inevitable phenomenon. Three types of fabrication imperfections (i.e., stiffness imbalance, mass imbalance, and damping imbalance) are studied, considering different imbalance radios. We focus on the coupling types of two gyros of TFGs in both drive and sense directions, and the vibration sensitivities of four TFG designs with imbalance are simulated and compared. It is found that non-ideal TFGs with two gyros coupled both in drive and sense directions (type CC TFGs) are the most insensitive to vibrations with frequencies close to the TFG operating frequencies. However, sense-axis vibrations with in-phase resonant frequencies of a coupled gyros system result in severe error outputs to TFGs with two gyros coupled in the sense direction, which is mainly attributed to the sense capacitance nonlinearity. With increasing stiffness coupled ratio of the coupled gyros system, the sensitivity to vibrations with operating frequencies is cut down, yet sensitivity to vibrations with in-phase frequencies is amplified.

  2. Imbalance in multiple sclerosis and neuromyelitis optica: association with deep sensation disturbance.

    Science.gov (United States)

    Demura, Yutaka; Kinoshita, Masako; Fukuda, Osamu; Nose, Shouzou; Nakano, Hitoshi; Juzu, Akira; Murase, Nagako; Yamamoto, Kenji

    2016-12-01

    Abnormality in balance is one of the most important causes of gait disturbance which has a direct impact to disability and medical cost in multiple sclerosis (MS) and neuromyelitis optica (NMO). However, characteristics of imbalance in these two diseases have not been fully elucidated. The aim of this study was to evaluate the degree and features of imbalance using stabilography, the degree of deep sensation disturbance using tibial nerve somatosensory evoked potentials (SEP), and their association with clinical impairment, in patients with MS and NMO. Seven NMO patients and seven MS patients with balance disturbance were examined. The relationship among stabilography measurements representing the degree and features of imbalance, height-adjusted P38 peak latency of SEP, and neurological functional disability, were analyzed. Stabilography evaluation showed a significantly severer degree of imbalance in NMO than in MS. Romberg quotient of the patients with brainstem lesions was significantly larger than those without them. In all patients, length of excursion per second significantly correlated positively with anterio-posterior-axis power spectra at intermediate frequency band. In all patients and in NMO, P38 peak latency adjusted by height significantly correlated positively with anterio-posterior-axis power spectra at intermediate frequency band. These findings suggest that the degree of imbalance of MS and NMO possibly correlate with deep sensation disturbance, which could be evaluated by anterio-posterior-axis power spectra at intermediate frequency band by stabilography. Severer imbalance in NMO than MS may be associated with the severe longitudinally extensive spinal cord lesions.

  3. Policy and organizational implications of gender imbalance in the NHS.

    Science.gov (United States)

    Miller, Karen

    2007-01-01

    The purpose of the paper is to examine the policy and organizational implications of gender imbalance in management, which research suggests exists in the NHS. The research in this paper involved a qualitative approach with an analysis of elite interviews conducted with a non-random sample of officials involved in health policy and interviews with a random sample of senior managers in NHS Scotland. The research formed part of a larger study, which explored the enablers and inhibitors to female career progression in various Scottish sectors. The paper finds that gender imbalance in management exists in the NHS. This is manifested in a masculine organizational context, leadership and policy decision-making process, which have implications for female career advancement opportunities and subsequently access to macro policy decisions. The paper involved a sample (30 percent) of senior managers and examined policy processes in NHS Scotland. To improve the external validity of the findings further research should be conducted in NHS organizations in England and Wales. The findings in the paper suggest that gender imbalance in management and a masculine organizational context and leadership style within the NHS create a less than conducive environment for female employees. This has practical implications in terms of levels of part-time employment, career progression and attrition rates. The paper adds to the debate of gender and organizational studies by examining the health sector, which has high levels of female employment but low levels of female representation at senior management levels. The paper therefore adds to an often-neglected area of study, women in leadership and senior managerial positions. The paper is original in its approach by examining the micro and meso organizational dimensions which impact on women's ability to influence macro health policy.

  4. 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...

  5. HLA Dr beta 1 alleles in Pakistani patients with rheumatoid arthritis

    International Nuclear Information System (INIS)

    Naqi, N.; Ahmed, T.A.; Bashir, M.M.

    2011-01-01

    Objective: To determine frequencies of HLA DR beta 1 alleles in rheumatoid arthritis in Pakistani patients. Study Design: Cross sectional / analytical study. Place and Duration of Study: Department of Immunology, Armed Forces Institute of Pathology, Rawalpindi in collaboration with Rheumatology departments of Military Hospital, Rawalpindi and Fauji Foundation Hospital, Rawalpindi, from January 2009 to January 2010. Methodology: HLA DR beta 1 genotyping of one hundred Pakistani patients, diagnosed as having RA as per American College of Rheumatology revised criteria 1987, was done. HLA DR beta 1 genotyping was carried out at allele group level (DR beta 1*01-DR beta 1*16) by sequence specific primers in RA patients. Comparison of HLA DR beta 1 allele frequencies between patients and control groups was made using Pearson's chi-square test to find possible association of HLA DR?1 alleles with RA in Pakistani rheumatoid patients. Results: HLA DR beta 1*04 was expressed with significantly increased frequency in patients with rheumatoid arthritis (p <0.05). HLA DR?1*11 was expressed statistically significantly more in control group as compared to rheumatoid patients indicating a possible protective effect. There was no statistically significant difference observed in frequencies of HLA DR beta 1 allele *01, DR beta 1 allele *03, DR beta 1 allele *07, DR beta 1 allele *08, DR beta 1 allele *09, DR beta 1 allele *10, DR beta 1 allele *12, DR beta 1 allele *13, DR beta 1 allele *14, DR?1 allele *15 and DR beta 1 allele *16 between patients and control groups. Conclusion: The identification of susceptible HLA DR beta 1 alleles in Pakistani RA patients may help physicians to make early decisions regarding initiation of early intensive therapy with disease modifying anti rheumatic medicines and biological agents decreasing disability in RA patients. (author)

  6. Effect of effort-reward imbalance and burnout on infection control among Ecuadorian nurses.

    Science.gov (United States)

    Colindres, C V; Bryce, E; Coral-Rosero, P; Ramos-Soto, R M; Bonilla, F; Yassi, A

    2018-06-01

    Nurses are frequently exposed to transmissible infections, yet adherence to infection control measures is suboptimal. There has been inadequate research into how the psychosocial work environment affects compliance with infection control measures, especially in low- and middle-income countries. To examine the association between effort-reward imbalance, burnout and adherence to infection control measures among nurses in Ecuador. A cross-sectional study linking psychosocial work environment indicators to infection control adherence. The study was conducted among 333 nurses in four Ecuadorian hospitals. Self-administered questionnaires assessed demographic variables, perceived infection risk, effort-reward imbalance, burnout and infection control adherence. Increased effort-reward imbalance was found to be a unique incremental predictor of exposure to burnout, and burnout was a negative unique incremental predictor of nurses' self-reported adherence with infection control measures. Results suggest an effort-reward imbalance-burnout continuum, which, at higher levels, contributes to reduce adherence to infection control. The Ecuadorean government has made large efforts to improve universal access to health care, yet this study suggests that workplace demands on nurses remain problematic. This study highlights the contribution of effort-reward-imbalance-burnout continuum to the chain of infection by decreased adherence to infection control of nurses. Health authorities should closely monitor the effect of new policies on psychosocial work environment, especially when expanding services and increasing public accessibility with limited resources. Additionally, organizational and psychosocial interventions targeting effort-reward imbalance and burnout in nurses should be considered part of a complete infection prevention and control strategy. Further study is warranted to identify interventions that best ameliorate effort-reward imbalance and burnout in low- and middle

  7. Sagittal imbalance in patients with lumbar spinal stenosis and outcomes after simple decompression surgery.

    Science.gov (United States)

    Shin, E Kyung; Kim, Chi Heon; Chung, Chun Kee; Choi, Yunhee; Yim, Dahae; Jung, Whei; Park, Sung Bae; Moon, Jung Hyeon; Heo, Won; Kim, Sung-Mi

    2017-02-01

    Lumbar spinal stenosis (LSS) is the most common lumbar degenerative disease, and sagittal imbalance is uncommon. Forward-bending posture, which is primarily caused by buckling of the ligamentum flavum, may be improved via simple decompression surgery. The objectives of this study were to identify the risk factors for sagittal imbalance and to describe the outcomes of simple decompression surgery. This is a retrospective nested case-control study PATIENT SAMPLE: This was a retrospective study that included 83 consecutive patients (M:F=46:37; mean age, 68.5±7.7 years) who underwent decompression surgery and a minimum of 12 months of follow-up. The primary end point was normalization of sagittal imbalance after decompression surgery. Sagittal imbalance was defined as a C7 sagittal vertical axis (SVA) ≥40 mm on a 36-inch-long lateral whole spine radiograph. Logistic regression analysis was used to identify the risk factors for sagittal imbalance. Bilateral decompression was performed via a unilateral approach with a tubular retractor. The SVA was measured on serial radiographs performed 1, 3, 6, and 12 months postoperatively. The prognostic factors for sagittal balance recovery were determined based on various clinical and radiological parameters. Sagittal imbalance was observed in 54% (45/83) of patients, and its risk factors were old age and a large mismatch between pelvic incidence and lumbar lordosis. The 1-year normalization rate was 73% after decompression surgery, and the median time to normalization was 1 to 3 months. Patients who did not experience SVA normalization exhibited low thoracic kyphosis (hazard ratio [HR], 1.04; 95% confidence interval [CI], 1.02-1.10) (pimbalance was observed in more than 50% of LSS patients, but this imbalance was correctable via simple decompression surgery in 70% of patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Allele frequency distribution for 21 autosomal STR loci in Nepal.

    Science.gov (United States)

    Kraaijenbrink, T; van Driem, G L; Opgenort, J R M L; Tuladhar, N M; de Knijff, P

    2007-05-24

    The allele frequency distributions of 21 autosomal loci contained in the AmpFlSTR Identifiler, the Powerplex 16 and the FFFL multiplex PCR kits, was studied in 953 unrelated individuals from Nepal. Several new alleles (i.e. not yet reported in the NIST Short Tandem Repeat DNA Internet DataBase [http://www.cstl.nist.gov/biotech/strbase/]) have been detected in the process.

  9. Progression of trunk imbalance in adolescent idiopathic scoliosis with a thoracolumbar/lumbar curve: is it predictable at the initial visit?

    Science.gov (United States)

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

    2017-11-01

    OBJECTIVE Progression of trunk imbalance is an important finding during follow-up of patients with adolescent idiopathic scoliosis (AIS). Nevertheless, no factors that predict progression of trunk imbalance have been identified. The purpose of this study was to identify parameters that predict progression of trunk imbalance in cases of AIS with a structural thoracolumbar/lumbar (TL/L) curve. METHODS This study included 105 patients with AIS and a structural TL/L curve who were followed up at an outpatient clinic. Patients with trunk imbalance (trunk shift ≥ 20 mm) at the initial visit were excluded. All patients were followed up for more than 2 years. Patients were divided into the following groups according to progression of trunk imbalance: 1) Group P, trunk shift ≥ 20 mm at the final visit and degree of progression ≥ 10 mm; and 2) Group NP, trunk shift imbalance with progression ≥ 10 mm at the final visit (Group P). Multivariate logistic regression analysis identified a lower Risser grade (p = 0.002) and a greater initial AVR (p = 0.020) as predictors of progressive trunk imbalance. A change in LEV tilt during follow-up was associated with trunk imbalance (p = 0.001). CONCLUSIONS Risser grade and AVR measured at the initial visit may predict progression of trunk imbalance. Surgeons should consider the risk of progressive trunk imbalance if patients show skeletal immaturity and a greater AVR at the initial visit.

  10. Lipoprotein(a) and HIV: Allele-Specific Apolipoprotein(a) Levels Predict Carotid Intima-Media Thickness in HIV-Infected Young Women in the Women's Interagency HIV Study.

    Science.gov (United States)

    Enkhmaa, Byambaa; Anuurad, Erdembileg; Zhang, Wei; Li, Chin-Shang; Kaplan, Robert; Lazar, Jason; Merenstein, Dan; Karim, Roksana; Aouizerat, Brad; Cohen, Mardge; Butler, Kenneth; Pahwa, Savita; Ofotokun, Igho; Adimora, Adaora A; Golub, Elizabeth; Berglund, Lars

    2017-05-01

    In the general population, lipoprotein(a) [Lp(a)] has been established as an independent causal risk factor for cardiovascular disease. Lp(a) levels are to a major extent regulated by a size polymorphism in the apolipoprotein(a) [apo(a)] gene. The roles of Lp(a)/apo(a) in human immunodeficiency virus (HIV)-related elevated cardiovascular disease risk remain unclear. The associations between total plasma Lp(a) level, allele-specific apo(a) level, an Lp(a) level carried by individual apo(a) alleles, and common carotid artery intima-media thickness were assessed in 150 HIV-infected and 100 HIV-uninfected women in the WIHS (Women's Interagency HIV Study). Linear regression analyses with and without adjustments were used. The cohort was young (mean age, ≈31 years), with the majority being Blacks (≈70%). The prevalence of a small size apo(a) (≤22 Kringle repeats) or a high Lp(a) level (≥30 mg/dL) was similar by HIV status. Total plasma Lp(a) level ( P =0.029) and allele-specific apo(a) level carried by the smaller apo(a) sizes ( P =0.022) were significantly associated with carotid artery intima-media thickness in the HIV-infected women only. After accounting for confounders (age, race, smoking, body mass index, blood pressure, hepatitis C virus coinfection, menopause, plasma lipids, treatment status, CD4 + T cell count, and HIV/RNA viral load), the association remained significant for both Lp(a) ( P =0.035) and allele-specific apo(a) level carried by the smaller apo(a) sizes ( P =0.010) in the HIV-infected women. Notably, none of the other lipids/lipoproteins was associated with carotid artery intima-media thickness. Lp(a) and allele-specific apo(a) levels predict carotid artery intima-media thickness in HIV-infected young women. Further research is needed to identify underlying mechanisms of an increased Lp(a) atherogenicity in HIV infection. © 2017 American Heart Association, Inc.

  11. Assessment of the myostatin Q204X allele using an allelic discrimination assay

    OpenAIRE

    Sifuentes-Rincón,Ana M.; Puentes-Montiel,Herlinda E.; Moreno-Medina,Víctor R.; Rosa-Reyna,Xóchitl F. de la

    2006-01-01

    An allelic discrimination assay was designed and used to determine the genotypic and allelic frequencies of the myostatin (MSTN) gene Q204X allele from two Mexican Full-French herds. The assay is a simple high throughput genotyping method that could be applied to investigate the effect of the Q204X allele on the Charolais breed.

  12. 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.

  13. Wikipedia Culture Gap: Quantifying Content Imbalances Across 40 Language Editions

    Directory of Open Access Journals (Sweden)

    Marc Miquel-Ribé

    2018-06-01

    Full Text Available The online encyclopedia Wikipedia is the largest general information repository created through collaborative efforts from all over the globe. Despite the project's goal being to achieve the sum of human knowledge, there are strong content imbalances across the language editions. In order to quantify and investigate these imbalances, we study the impact of cultural context in 40 language editions. To this purpose, we developed a computational method to identify articles that can be related to the editors' cultural context associated to each Wikipedia language edition. We employed a combination of strategies taking into account geolocated articles, specific keywords and categories, as well as links between articles. We verified the method's quality with manual assessment and found an average precision of 0.92 and an average recall of 0.95. The results show that about a quarter of each Wikipedia language edition is dedicated to represent the corresponding cultural context. Although a considerable part of this content was created during the first years of the project, its creation is sustained over time. An analysis of cross-language coverage of this content shows that most of it is unique in its original language, and reveals special links between cultural contexts; at the same time, it highlights gaps where the encyclopedia could extend its content. The approach and findings presented in this study can help to foster participation and inter-cultural enrichment of Wikipedias. The datasets produced are made available for further research.

  14. 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.

  15. Effort-Reward Imbalance, Work-Privacy Conflict, and Burnout Among Hospital Employees.

    Science.gov (United States)

    Häusler, Nadine; Bopp, Matthias; Hämmig, Oliver

    2018-04-01

    Studies investigating the relative importance of effort-reward imbalance and work-privacy conflict for burnout risk between professional groups in the health care sector are rare and analyses by educational attainment within professional groups are lacking. The study population consists of 1422 hospital employees in Switzerland. Multivariate linear regression analyses with standardized coefficients were performed for the overall study population and stratified for professional groups refined for educational attainment. Work-privacy conflict is a strong predictor for burnout and more strongly associated with burnout than effort-reward imbalance in the overall study population and across all professional groups. Effort-reward imbalance only had a minor effect on burnout in tertiary-educated medical professionals. Interventions aiming at increasing the compatibility of work and private life may substantially help to decrease burnout risk of professionals working in a health care setting.

  16. DRD4 dopamine receptor allelic diversity in various primate species

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  17. Reduced risk of recurrent myocardial infarction in homozygous carriers of the chromosome 9p21 rs1333049 C risk allele in the contemporary percutaneous coronary intervention era: a prospective observational study

    Science.gov (United States)

    Hara, Masahiko; Sakata, Yasuhiko; Nakatani, Daisaku; Suna, Shinichiro; Usami, Masaya; Matsumoto, Sen; Ozaki, Kouichi; Nishino, Masami; Sato, Hiroshi; Kitamura, Tetsuhisa; Nanto, Shinsuke; Hamasaki, Toshimitsu; Tanaka, Toshihiro; Hori, Masatsugu; Komuro, Issei

    2014-01-01

    Objectives Chromosome 9p21 single nucleotide polymorphism (SNP) is a susceptibility variant for acute myocardial infarction (AMI) in the primary prevention setting. However, it is controversial whether this SNP is also associated with recurrent myocardial infarction (ReMI) in the secondary prevention setting. The purpose of this study is to evaluate the impact of chromosome 9p21 SNP on ReMI in patients receiving secondary prevention programmes after AMI. Design A prospective observational study. Setting Osaka Acute Coronary Insufficiency Study (OACIS) in Japan. Participants 2022 patients from the OACIS database. Interventions Genotyping of the 9p21 rs1333049 variant. Primary outcome measures ReMI event after survival discharge for 1 year. Results A total of 43 ReMI occurred during the 1 year follow-up period. Although the rs1333049 C allele had an increased susceptibility to their first AMI in an additive model when compared with 1373 healthy controls (OR 1.20, 95% CI 1.09 to 1.33, p=2.3*10−4), patients with the CC genotype had a lower incidence of ReMI at 1 year after discharge of AMI (log-rank p=0.005). The adjusted HR of the CC genotype as compared with the CG/GG genotypes was 0.20 (0.06 to 0.65, p=0.007). Subgroup analysis demonstrated that the association between the rs1333049 CC genotype and a lower incidence of 1 year ReMI was common to all subgroups. Conclusions Homozygous carriers of the rs1333049 C allele on chromosome 9p21 showed a reduced risk of 1 year ReMI in the contemporary percutaneous coronary intervention era, although the C allele had conferred susceptibility to their first AMI. PMID:25232560

  18. Effort-reward imbalance and organisational injustice among aged nurses: a moderated mediation model.

    Science.gov (United States)

    Topa, Gabriela; Guglielmi, Dina; Depolo, Marco

    2016-09-01

    To test the effort-reward imbalance model among older nurses, expanding it to include the moderation of overcommitment and age in the stress-health complaints relationship, mediated by organisational injustice. The theoretical framework included the effort-reward imbalance, the uncertainty management and the socio-emotional selectivity models. Employing a two-wave design, the participants were 255 nurses aged 45 years and over, recruited from four large hospitals in Spain (Madrid and Basque Country). The direct effect of imbalance on health complaints was supported: it was significant when overcommitment was low but not when it was high. Organisational injustice mediated the influence of effort-reward imbalance on health complaints. The conditional effect of the mediation of organisational injustice was significant in three of the overcommitment/age conditions but it weakened, becoming non-significant, when the level of overcommitment was low and age was high. The study tested the model in nursing populations and expanded it to the settings of occupational health and safety at work. The results of this study highlight the importance of effort-reward imbalance and organisational justice for creating healthy work environments. © 2016 John Wiley & Sons Ltd.

  19. 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.

  20. Allele-specific MMP-3 transcription under in vivo conditions

    Energy Technology Data Exchange (ETDEWEB)

    Chaoyong, Zhu [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Odeberg, Jacob [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Department of Biotechnology, AlbaNova University Center, Royal Institute of Technology, Stockholm (Sweden); Hamsten, Anders [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Eriksson, Per [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden)

    2006-09-29

    A common matrix metalloproteinases-3 (MMP-3) -1612 5A/6A promoter polymorphism is associated with risk for cardiovascular disease, rheumatoid arthritis, and other diseases. Here we used the haplotype chromatin immunoprecipitation method to study allele-specific MMP-3 expression under in vivo conditions in heterozygous THP-1 cells. Pyrosequencing was used to analyse the ratio of 5A-allele to 6A-allele after chromatin immunoprecipitation using an antibody against phosphorylated active RNA polymerase II. There was no allele-specific difference in transcriptional activity during basal conditions, i.e., in unstimulated monocytic THP-1 cells. However, after stimulation of MMP-3 expression by monocyte differentiation or incubation with IL-1{beta}, the haplotype containing the 5A-allele was associated with higher transcriptional activity compared with the 6A-containing haplotype. Electromobility shift assay demonstrated increased binding of nuclear proteins to the 5A-allele after monocyte differentiation. In conclusion, the common MMP-3 5A/6A promoter polymorphism appears to be functional only during specific environmental conditions involving inflammation.

  1. 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.

  2. Three-dimensional structure discrepancy between HLA alleles for effective prediction of aGVHD severity and optimal selection of recipient-donor pairs: a proof-of-concept study.

    Science.gov (United States)

    Han, Hongxing; Yuan, Fang; Sun, Yuying; Liu, Jinfeng; Liu, Shuguang; Luo, Yuan; Liang, Fei; Liu, Nan; Long, Juan; Zhao, Xiao; Kong, Fanhua; Xi, Yongzhi

    2015-11-24

    The optimal selection of recipient-donor pair and accurate prediction of acute graft-versus-host disease (aGVHD) severity are always the two most crucial works in allogeneic hematopoietic stem cell transplantation (allo-HSCT), which currently rests mostly with HLA compatibility, the most polymorphic loci in the human genome, in clinic. Thus, there is an urgent need for a rapid and reliable quantitative system for optimal recipient-donor pairs selection and accurate prediction of aGVHD severity prior to allo-HSCT. For these reasons, we have developed a new selection/prediction system for optimal recipient-donor selection and effective prediction of aGVHD severity based on HLA three-dimensional (3D) structure modeling (HLA-TDSM) discrepancy, and applied this system in a pilot randomized clinical allo-HSCT study. The 37 patient-donor pairs in the study were typed at low- and high-resolution levels for HLA-A/-B/-DRB1/-DQB1 loci. HLA-TDSM system covering the 10000 alleles in HLA class I and II consists of the revised local and coordinate root-mean-square deviation (RMSD) values for each locus. Its accuracy and reliability were confirmed using stably transfected Hmy2.CIR-HLA-B cells, TCR Vβ gene scan, and antigen-specific alloreactive cytotoxic lymphocytes. Based on the preliminary results, we theoretically defined all HLA acceptable versus unacceptable mismatched alleles. More importantly, HLA-TDSM enabled a successful retrospective verification and prospective prediction for aGVHD severity in a pilot randomized clinical allo-HSCT study of 32 recipient-donor transplant pairs. There was a strong direct correlation between single/total revised RMSD and aGVHD severity (92% in retrospective group vs 95% in prospective group). These results seem to be closely related to the 3D structure discrepancy of mismatched HLA-alleles, but not the number or loci of mismatched HLA-alleles. Our data first provide the proof-of-concept that HLA-TDSM is essential for optimal selection of

  3. Noninvasive Optoelectronic Assessment of Induced Sagittal Imbalance Using the Vicon System.

    Science.gov (United States)

    Ould-Slimane, Mourad; Latrobe, Charles; Michelin, Paul; Chastan, Nathalie; Dujardin, Franck; Roussignol, Xavier; Gauthé, Rémi

    2017-06-01

    Spinal diseases often induce gait disorders with multifactorial origins such as lumbar pain, radicular pain, neurologic complications, or spinal deformities. However, radiography does not permit an analysis of spinal dynamics; therefore, sagittal balance dynamics during gait remain largely unexplored. This prospective and controlled pilot study assessed the Vicon system for detecting sagittal spinopelvic imbalance, to determine the correlations between optoelectronic and radiographic parameters. Reversible anterior sagittal imbalance was induced in 24 healthy men using a thoracolumbar corset. Radiographic, optoelectronic, and comparative analyses were conducted. Corset wearing induced significant variations in radiographic parameters indicative of imbalance; the mean C7-tilt and d/D ratio increased by 15° ± 7.4° and 359%, respectively, whereas the mean spinosacral angle decreased by 16.8° ± 8° (all P imbalance; the mean spinal angle increased by 15.4° ± 5.6° (P imbalance detected using the Vicon system. Optoelectronic C7'S1' correlated with radiographic C7-tilt and d/D ratio. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. 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...... no protective effect of the APOE ε2 allele on mortality compared with the APOE ε3 allele. The point estimates indicated an increased protection against cognitive decline over time for persons with the APOE ε2 allele. Cognitive score did not significantly modify the mortality risk of the various APOE genotypes....... We did not find a protective effect of the APOE ε2 allele on mortality among the oldest old, but in agreement with our previous findings, we found a 22% increased mortality risk for APOE ε4 carriers. The APOE ε2 allele may be protective on cognitive decline among the oldest old....

  5. Evaluating imbalances of adverse events during biosimilar development

    Science.gov (United States)

    Vana, Alicia M.; Freyman, Amy W.; Reich, Steven D.; Yin, Donghua; Li, Ruifeng; Anderson, Scott; Jacobs, Ira A.; Zacharchuk, Charles M.; Ewesuedo, Reginald

    2016-01-01

    ABSTRACT Biosimilars are designed to be highly similar to approved or licensed (reference) biologics and are evaluated based on the totality of evidence from extensive analytical, nonclinical and clinical studies. As part of the stepwise approach recommended by regulatory agencies, the first step in the clinical evaluation of biosimilarity is to conduct a pharmacokinetics similarity study in which the potential biosimilar is compared with the reference product. In the context of biosimilar development, a pharmacokinetics similarity study is not necessarily designed for a comparative assessment of safety. Development of PF-05280014, a potential biosimilar to trastuzumab, illustrates how a numerical imbalance in an adverse event in a small pharmacokinetics study can raise questions on safety that may require additional clinical trials. PMID:27050730

  6. Impact of sagittal spinopelvic alignment on clinical outcomes after decompression surgery for lumbar spinal canal stenosis without coronal imbalance.

    Science.gov (United States)

    Hikata, Tomohiro; Watanabe, Kota; Fujita, Nobuyuki; Iwanami, Akio; Hosogane, Naobumi; Ishii, Ken; Nakamura, Masaya; Toyama, Yoshiaki; Matsumoto, Morio

    2015-10-01

    The object of this study was to investigate correlations between sagittal spinopelvic alignment and improvements in clinical and quality-of-life (QOL) outcomes after lumbar decompression surgery for lumbar spinal canal stenosis (LCS) without coronal imbalance. The authors retrospectively reviewed data from consecutive patients treated for LCS with decompression surgery in the period from 2009 through 2011. They examined correlations between preoperative or postoperative sagittal vertical axis (SVA) and radiological parameters, clinical outcomes, and health-related (HR)QOL scores in patients divided according to SVA. Clinical outcomes were assessed according to Japanese Orthopaedic Association (JOA) and visual analog scale (VAS) scores. Health-related QOL was evaluated using the Roland-Morris Disability Questionnaire (RMDQ) and the JOA Back Pain Evaluation Questionnaire (JOABPEQ). One hundred nine patients were eligible for inclusion in the study. Compared to patients with normal sagittal alignment prior to surgery (Group A: SVA imbalance (Group B: SVA ≥ 50 mm) had significantly smaller lumbar lordosis and thoracic kyphosis angles and larger pelvic tilt. In Group B, there was a significant decrease in postoperative SVA compared with the preoperative SVA (76.3 ± 29.7 mm vs. 54.3 ± 39.8 mm, p = 0.004). The patients in Group B with severe preoperative sagittal imbalance (SVA > 80 mm) had residual sagittal imbalance after surgery (82.8 ± 41.6 mm). There were no significant differences in clinical and HRQOL outcomes between Groups A and B. Compared to patients with normal postoperative SVA (Group C: SVA imbalance. Decompression surgery improved the SVA value in patients with preoperative sagittal imbalance; however, the patients with severe preoperative sagittal imbalance (SVA > 80 mm) had residual imbalance after decompression surgery. Both clinical and HRQOL outcomes were negatively affected by postoperative residual sagittal imbalance.

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  8. The Relationship Between the Effort-Reward Imbalance and Psychosocial Health in Nurses

    Directory of Open Access Journals (Sweden)

    Fariborz Roshangar

    2017-09-01

    Full Text Available The health of nurses as providers of health affects the quality of care provided by health care organizations to patients. The effort-reward imbalance is accompanied by repressive responses that can lead to physical and psychological diseases as well as stressful experiences in nurses’ activity. Regarding the existence of some discrimination in the system of health, the present study was conducted to determine the relationship between the effort-reward imbalance and psychosocial health in nurses. In this descriptive cross-sectional study, 270 nurses working in five medical-educational centers in Tabriz participated through random-quota sampling. The research tool included a demographic questionnaire, Siegrist effort- reward imbalance questionnaire and Copenhagen Psychosocial questionnaire. Data were analyzed by SPSS V18 and descriptive and inferential statistics. In the present study, 54.8% of the patients were suffering from effort- reward imbalance model (occupational stress. The relatively high prevalence of this can be attributed to the conditions of the hospital's working environment. The results of this study showed a significant relationship between psychosocial health and balance of reward and effort in nurses and also the findings of the research showed a positive and significant relationship between mental and social health and the score of effort-reward imbalance model (0.95 = R, and P <0.05. There was a significant relationship between effort and work commitment and job burnout. Considering the stressful nature of the profession among many reasons, the mental health of nurses is at a higher risk than that of other groups in the society. Because some factors related to the imbalance in the effort and reward (stress is inevitable, it is necessary in the profession of nursing for managers to review their employees' position and characteristics to find out their staff’s attitudes and behaviors and direct them in the right path.

  9. Determinants of Pre-Operative Shoulder Imbalance in Patients with Adolescent Idiopathic Scoliosis

    Directory of Open Access Journals (Sweden)

    Hassan Ghandhari

    2017-01-01

    Full Text Available Background Disfiguring complications of adolescent idiopathic scoliosis (AIS could significantly affect the patients’ satisfaction. In this regard, shoulder imbalance has recently received much attention in spite of its poorly understood challenge. Objectives While the majority of previous studies have attempted to explore preoperative determinants of postoperative shoulder imbalance, in this study we aimed to investigate the factors correlated with the preoperative shoulder imbalance. Methods A total of 72 AIS patients with no previous history of corrective surgery took part in this study. The study sample comprised 63 females and 9 males with the mean age of 15.72 ± 3.08 years, ranging from 11 to 26 years. Shoulder imbalance parameters including T1 tilt, first rib angle (FRA, and clavicle angle (CA were assessed and their correlation with radiographic characteristics of the curves and patients’ demographic data including age and sex was evaluated. Results T1 tilt was more severe in males (mean -8.2° than females (mean -2.8° (P = 0.04. Moreover, a significant correlation was found between age and FRA (P = 0.04. A significant correlation was also observed between main thoracic (MT curve size and all the three parameters of shoulder imbalance (P < 0.001. The reverse correlation of T5 - T12 kyphosis angle with FRA was also significant (P = 0.04. Conclusions According to our results, in AIS, pre-operative radiographic shoulder imbalance could be affected by some curve parameters including MT and kyphosis size and demographic characteristics of patients including age and gender.

  10. 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.

  11. THE ROLE OF IONORGANIC ION IMBALANCE IN AQUATIC TOXICITY TESTING

    Science.gov (United States)

    This paper assessess the issue of ion imbalance, provides summary of applicable data, presents several successful technical tools to address toxicity resulting from salinity and ion imbalances, and discusses regulatory/compliance options to manage discharges with salinity/ion imb...

  12. Covariate Imbalance and Precision in Measuring Treatment Effects

    Science.gov (United States)

    Liu, Xiaofeng Steven

    2011-01-01

    Covariate adjustment can increase the precision of estimates by removing unexplained variance from the error in randomized experiments, although chance covariate imbalance tends to counteract the improvement in precision. The author develops an easy measure to examine chance covariate imbalance in randomization by standardizing the average…

  13. 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....

  14. Relationship between effort-reward imbalance and hair cortisol concentration in female kindergarten teachers.

    Science.gov (United States)

    Qi, Xingliang; Zhang, Jing; Liu, Yapeng; Ji, Shuang; Chen, Zheng; Sluiter, Judith K; Deng, Huihua

    2014-04-01

    The present study aims to investigate the relationship between effort-reward imbalance and hair cortisol concentration among teachers to examine whether hair cortisol can be a biomarker of chronic work stress. Hair samples were collected from 39 female teachers from three kindergartens. Cortisol was extracted from the hair samples with methanol, and cortisol concentrations were measured with high performance liquid chromatography-tandem mass spectrometry. Work stress was measured using the effort-reward imbalance scale. The ratio of effort to reward showed significantly positive association with hair cortisol concentration. The cortisol concentration in the system increases with the effort-reward imbalance. Measurement of hair cortisol can become a useful biomarker of chronic work stress. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Occupational imbalance and the role of perceived stress in predicting stress-related disorders.

    Science.gov (United States)

    Håkansson, Carita; Ahlborg, Gunnar

    2017-03-02

    Stress-related disorders are the main reason for sick leave in many European countries. The aim of the present study was to explore whether perceived occupational imbalance predicts stress-related disorders, potential gender differences, and to explore the mediating role of perceived stress. Longitudinal data on 2223 employees in a public organization in Sweden were collected by surveys, and analyzed by logistic regression. Occupational imbalance predicted stress-related disorders among both women and men. However, what aspects of occupational imbalance which predicted stress-related disorders differ by gender. Perceived stress was not a mediator in these associations. How women and men perceived their occupational balance affected the risk of stress-related disorders. The results may be used to develop effective strategies to decrease stress-related disorders.

  16. Perceived work stress, imbalance between work and family/personal lives, and mental disorders.

    Science.gov (United States)

    Wang, Jian Li

    2006-07-01

    Occupational mental health research has been focusing on the relationship between work stress and depression. However, the impacts of work stress on anxiety disorders and of imbalance between work and family life on workers' mental health have not been well studied. This analysis investigated the association between levels of perceived work stress and of imbalance between work and family/personal lives and current mood/anxiety disorders. This was a cross-sectional study using data from the Canadian Community Health Survey-Mental Health and Well-being (CCHS-1.2) (n=36,984). Mood and anxiety disorders were measured using the World Mental Health-Composite International Diagnostic Interview. The 1-month prevalence of mood and anxiety disorders among those with a work stress score at the 75th percentile value and above was 3.6% and 4.0%. Among those who reported that their work and family/personal lives "never" balanced in the past month, the 1-month prevalence of mood and anxiety disorders was 21.2% and 17.9%. In multivariate analyses, work stress and imbalance between work and family/personal lives were independently associated with mood and anxiety disorders. There was no evidence that perceived work stress interacted with imbalance between work and family/personal lives to increase the likelihood of having mental disorders. Gender was associated with anxiety disorders, but not with major depressive disorder and mood disorders. Work stress and imbalance between work and family/personal lives may be part of the etiology of mood and anxiety disorders in the working population. Community based longitudinal studies are needed to delineate the causal relationships among work stress, imbalance between work and family/personal lives and mental disorders.

  17. Postural Consequences of Cervical Sagittal Imbalance: A Novel Laboratory Model.

    Science.gov (United States)

    Patwardhan, Avinash G; Havey, Robert M; Khayatzadeh, Saeed; Muriuki, Muturi G; Voronov, Leonard I; Carandang, Gerard; Nguyen, Ngoc-Lam; Ghanayem, Alexander J; Schuit, Dale; Patel, Alpesh A; Smith, Zachary A; Sears, William

    2015-06-01

    A biomechanical study using human spine specimens. To study postural compensations in lordosis angles that are necessary to maintain horizontal gaze in the presence of forward head posture and increasing T1 sagittal tilt. Forward head posture relative to the shoulders, assessed radiographically using the horizontal offset distance between the C2 and C7 vertebral bodies (C2-C7 [sagittal vertical alignment] SVA), is a measure of global cervical imbalance. This may result from kyphotic alignment of cervical segments, muscle imbalance, as well as malalignment of thoracolumbar spine. Ten cadaveric cervical spines (occiput-T1) were tested. The T1 vertebra was anchored to a tilting and translating base. The occiput was free to move vertically but its angular orientation was constrained to ensure horizontal gaze regardless of sagittal imbalance. A 5-kg mass was attached to the occiput to mimic head weight. Forward head posture magnitude and T1 tilt were varied and motions of individual vertebrae were measured to calculate C2-C7 SVA and lordosis across C0-C2 and C2-C7. Increasing C2-C7 SVA caused flexion of lower cervical (C2-C7) segments and hyperextension of suboccipital (C0-C1-C2) segments to maintain horizontal gaze. Increasing kyphotic T1 tilt primarily increased lordosis across the C2-C7 segments. Regression models were developed to predict the compensatory C0-C2 and C2-C7 angulation needed to maintain horizontal gaze given values of C2-C7 SVA and T1 tilt. This study established predictive relationships between radiographical measures of forward head posture, T1 tilt, and postural compensations in the cervical lordosis angles needed to maintain horizontal gaze. The laboratory model predicted that normalization of C2-C7 SVA will reduce suboccipital (C0-C2) hyperextension, whereas T1 tilt reduction will reduce the hyperextension in the C2-C7 segments. The predictive relationships may help in planning corrective strategy in patients experiencing neck pain, which may be

  18. Wet cupping therapy restores sympathovagal imbalances in cardiac rhythm.

    Science.gov (United States)

    Arslan, Müzeyyen; Yeşilçam, Nesibe; Aydin, Duygu; Yüksel, Ramazan; Dane, Senol

    2014-04-01

    A recent study showed that cupping had therapeutic effects in rats with myocardial infarction and cardiac arrhythmias. The current studyaimed to investigate the possible useful effects of cupping therapy on cardiac rhythm in terms of heart rate variability (HRV). Forty healthy participants were included. Classic wet cupping therapy was applied on five points of the back. Recording electrocardiography (to determine HRV) was applied 1 hour before and 1 hour after cupping therapy. All HRV parameters increased after cupping therapy compared with before cupping therapy in healthy persons. These results indicate for the first time in humans that cupping might be cardioprotective. In this study, cupping therapy restored sympathovagal imbalances by stimulating the peripheral nervous system.

  19. Current account imbalances in the euro area

    Directory of Open Access Journals (Sweden)

    Klára Plecitá

    2013-01-01

    Full Text Available While the current account balance for the euro area as a whole has been in balance, divergences in current account positions among the euro-area members have widened since the introduction of the common currency euro. During the last 13 years Portugal, Greece and Spain have run large and persistent current account deficits, whereas Luxembourg, the Netherlands, Finland or Germany have displayed during the same period large and persistent surpluses. However, there is no unambiguous agreement among economists, whether this divergence of current account positions of the euro-area countries mirrors growing intra-euro-area imbalances (Gros, 2012 or just reflects proper functioning of the European integration process (Schmitz and von Hagen, 2009. Therefore, the aim of this paper is to estimate equilibrium current account position for each of the original 12 euro area countries so that it is possible to assess whether the divergence of intra-euro current account balances could be explained on the basis of economic fundamentals or it just reflects misallocation of resources and thus macroeconomic imbalances. The equilibrium current account balance is estimated using a panel-econometric technique for a sample of 30 industrial countries, which represent euro-area member states and their main business partners, over the period 1993–2011. Economic fundamentals affecting the equilibrium current account position are selected on the basis of the saving-investment balance, the trade balance and the net income balance, to ensure that we take into an account all theoretically important explanatory variables. We find that the main determinants of current account norms in our sample are fiscal balance, a country’s net international investment position, oil balance and a country’s stage of economic development. The major part of the euro-area countries exhibits current account positions close to their equilibrium levels with the exception of the Netherlands and

  20. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

  2. Pedicle subtraction osteotomy in elderly patients with degenerative sagittal imbalance.

    Science.gov (United States)

    Cho, Kyu-Jung; Kim, Ki-Tack; Kim, Whoan-Jeang; Lee, Sang-Hoon; Jung, Jae-Hoon; Kim, Young-Tae; Park, Hae-Bong

    2013-11-15

    Retrospective, radiographical analysis. To evaluate pedicle subtraction osteotomy (PSO) as a means of correcting severe degenerative sagittal imbalance in elderly patients. PSO in patients with degenerative sagittal imbalance is likely to cause more complications than in patients with iatrogenic flatback deformity. This study analyzed 34 patients who underwent fusion to the sacrum, with a minimum 2-year follow-up. Age of the patients were in the range from 58 to 73 with the mean at 65.5 years. PSO was performed at one segment in all cases, consisting of L3 (n = 26), L4 (n = 4), L2 (n = 3), and L1 (n = 1). The average number of levels fused was 8.15. Ten patients had structural interbody fusion at the lumbosacral junction. Applying PSO at one segment, the mean correction of the lordotic angle at the osteotomy site was 33.3°, of which the loss of correction (LOC) was 4.0° at the last visit. The correction of lumbar lordosis was 33.7° and the LOC was 8.5°. The sagittal C7 plumb was 215.9 mm before surgery, corrected to 35.1 mm after surgery, and changed to 95.9 mm by the last visit. The correction of the sagittal C7 plumb was 119.9 mm and the LOC was 60.9 mm. There was substantial LOC in lumbar lordosis and sagittal C7 plumb. In 10 patients with addition of posterior lumbar interbody fusion, the LOC of lumbar lordosis was 7.4°, which was less than 9° in those without it. PSO for the correction of degenerative sagittal imbalance in elderly patients resulted in correction of sagittal alignment with a significant LOC of lumbar lordosis and sagittal C7 plumb. The LOC of lumbar lordosis occurred at both the osteotomy and non-osteotomy site. The addition of anterior column support is helpful to maintain correction and reduce complications. N/A.

  3. Enhanced low-template DNA analysis conditions and investigation of allele dropout patterns.

    Science.gov (United States)

    Hedell, Ronny; Dufva, Charlotte; Ansell, Ricky; Mostad, Petter; Hedman, Johannes

    2015-01-01

    Forensic DNA analysis applying PCR enables profiling of minute biological samples. Enhanced analysis conditions can be applied to further push the limit of detection, coming with the risk of visualising artefacts and allele imbalances. We have evaluated the consecutive increase of PCR cycles from 30 to 35 to investigate the limitations of low-template (LT) DNA analysis, applying the short tandem repeat (STR) analysis kit PowerPlex ESX 16. Mock crime scene DNA extracts of four different quantities (from around 8-84 pg) were tested. All PCR products were analysed using 5, 10 and 20 capillary electrophoresis (CE) injection seconds. Bayesian models describing allele dropout patterns, allele peak heights and heterozygote balance were developed to assess the overall improvements in EPG quality with altered PCR/CE settings. The models were also used to evaluate the impact of amplicon length, STR marker and fluorescent label on the risk for allele dropout. The allele dropout probability decreased for each PCR cycle increment from 30 to 33 PCR cycles. Irrespective of DNA amount, the dropout probability was not affected by further increasing the number of PCR cycles. For the 42 and 84 pg samples, mainly complete DNA profiles were generated applying 32 PCR cycles. For the 8 and 17 pg samples, the allele dropouts decreased from 100% using 30 cycles to about 75% and 20%, respectively. The results for 33, 34 and 35 PCR cycles indicated that heterozygote balance and stutter ratio were mainly affected by DNA amount, and not directly by PCR cycle number and CE injection settings. We found 32 and 33 PCR cycles with 10 CE injection seconds to be optimal, as 34 and 35 PCR cycles did not improve allele detection and also included CE saturation problems. We find allele dropout probability differences between several STR markers. Markers labelled with the fluorescent dyes CXR-ET (red in electropherogram) and TMR-ET (shown as black) generally have higher dropout risks compared with those

  4. Effort-reward imbalance and depression among private practice physicians.

    Science.gov (United States)

    Tsutsumi, Akizumi; Kawanami, Shoko; Horie, Seichi

    2012-02-01

    Current private practice physicians provide medical services in a harsh economic situation. The effort-reward imbalance (ERI) model puts its emphasis on an imbalance between high efforts spent and low rewards received in occupational life. ERI model includes three different reward factors from task to organizational levels. We examined whether ERI in terms of low organizational reward (poor prospective and job insecurity) could be the most relevant and strongly associated with depression among private practice physicians. This is a cross-sectional questionnaire study of 1,103 private practice physicians who were currently working in clinical settings and completed the data of exposure and outcome. The study questionnaire was mailed to all the physicians listed as members of a local branch of the Japan Medical Association (n = 3,441) between November and December 2008. Outcomes were prevalence of depression as measured by the Center for Epidemiologic Studies Depression Scale and adjusted odds ratios (OR) of depression with respect to ERI. Fifty-seven percent of physicians were exposed to ERI, and 18% of the physicians were depressed. Logistic regression analyses revealed that ERI was significantly associated with depression (OR and 95% confidence interval = 3.57; 2.43-5.26). ERI with regard to organizational reward was most prevalent (60%) and had the strongest association with depression (5.14; 3.36-7.92). Predominant prevalence of ERI in terms of organizational level low reward and strong associations between the ERI component and depression suggests that countermeasures from social perspective are crucial.

  5. Cardiac angiogenic imbalance leads to peripartum cardiomyopathy.

    Science.gov (United States)

    Patten, Ian S; Rana, Sarosh; Shahul, Sajid; Rowe, Glenn C; Jang, Cholsoon; Liu, Laura; Hacker, Michele R; Rhee, Julie S; Mitchell, John; Mahmood, Feroze; Hess, Philip; Farrell, Caitlin; Koulisis, Nicole; Khankin, Eliyahu V; Burke, Suzanne D; Tudorache, Igor; Bauersachs, Johann; del Monte, Federica; Hilfiker-Kleiner, Denise; Karumanchi, S Ananth; Arany, Zoltan

    2012-05-09

    Peripartum cardiomyopathy (PPCM) is an often fatal disease that affects pregnant women who are near delivery, and it occurs more frequently in women with pre-eclampsia and/or multiple gestation. The aetiology of PPCM, and why it is associated with pre-eclampsia, remain unknown. Here we show that PPCM is associated with a systemic angiogenic imbalance, accentuated by pre-eclampsia. Mice that lack cardiac PGC-1α, a powerful regulator of angiogenesis, develop profound PPCM. Importantly, the PPCM is entirely rescued by pro-angiogenic therapies. In humans, the placenta in late gestation secretes VEGF inhibitors like soluble FLT1 (sFLT1), and this is accentuated by multiple gestation and pre-eclampsia. This anti-angiogenic environment is accompanied by subclinical cardiac dysfunction, the extent of which correlates with circulating levels of sFLT1. Exogenous sFLT1 alone caused diastolic dysfunction in wild-type mice, and profound systolic dysfunction in mice lacking cardiac PGC-1α. Finally, plasma samples from women with PPCM contained abnormally high levels of sFLT1. These data indicate that PPCM is mainly a vascular disease, caused by excess anti-angiogenic signalling in the peripartum period. The data also explain how late pregnancy poses a threat to cardiac homeostasis, and why pre-eclampsia and multiple gestation are important risk factors for the development of PPCM.

  6. 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...

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

    DEFF Research Database (Denmark)

    Djurisic, S; Teiblum, S; Tolstrup, C K

    2015-01-01

    The HLA-G molecule is expressed on trophoblast cells at the feto-maternal interface, where it interacts with local immune cells, and upholds tolerance against the semi-allogeneic fetus. Aberrant HLA-G expression in the placenta and reduced soluble HLA-G levels are observed in pregnancy complicati...

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

    LENUS (Irish Health Repository)

    Gray, Sarah E

    2011-05-01

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

  9. Does correction of preoperative coronal imbalance make a difference in outcomes of adult patients with deformity?

    Science.gov (United States)

    Daubs, Michael D; Lenke, Lawrence G; Bridwell, Keith H; Kim, Yongjung J; Hung, Man; Cheh, Gene; Koester, Linda A

    2013-03-15

    Retrospective study with prospectively collected outcomes data. Determine the significance of coronal balance on spinal deformity surgery outcomes. Sagittal balance has been confirmed as an important radiographic parameter correlating with adult deformity treatment outcomes. The significance of coronal balance on functional outcomes is less clear. Eighty-five patients with more than 4 cm of coronal imbalance who underwent reconstructive spinal surgery were evaluated to determine the significance of coronal balance on functional outcomes as measured with the Oswestry Disability Index (ODI) and Scoliosis Research Society outcomes questionnaires. Sixty-two patients had combined coronal (>4 cm) and sagittal imbalance (>5 cm), while 23 patients had coronal imbalance alone. Postoperatively, 85% of patients demonstrated improved coronal balance. The mean improvement in the coronal C7 plumb line was 26 mm for a mean correction of 42%. The mean preoperative sagittal C7 plumb line in patients with combined coronal and sagittal imbalance was 118 mm (range, 50-310 mm) and improved to a mean 49 mm. The mean preoperative and postoperative ODI scores were 42 (range, 0-90) and 27 (range, 0-78), for a mean improvement of 15 (36%) (P = 0.00001; 95% CI, 12-20). The mean Scoliosis Research Society scores improved by 17 points (29%) (P = 0.00). Younger age (P = 0.008) and improvement in sagittal balance (P = 0.014) were positive predictors for improved ODI scores. Improvement in sagittal balance (P = 0.010) was a positive predictor for improved Scoliosis Research Society scores. In patients with combined coronal and sagittal imbalance, improvement in sagittal balance was the most significant predictor for improved ODI scores (P = 0.009). In patients with preoperative coronal imbalance alone, improvement in coronal balance trended toward, but was not a significant predictor for improved ODI (P = 0.092). Sagittal balance improvement is the strongest predictor of improved outcomes in

  10. Spatial-frequency dependent binocular imbalance in amblyopia.

    Science.gov (United States)

    Kwon, MiYoung; Wiecek, Emily; Dakin, Steven C; Bex, Peter J

    2015-11-25

    While amblyopia involves both binocular imbalance and deficits in processing high spatial frequency information, little is known about the spatial-frequency dependence of binocular imbalance. Here we examined binocular imbalance as a function of spatial frequency in amblyopia using a novel computer-based method. Binocular imbalance at four spatial frequencies was measured with a novel dichoptic letter chart in individuals with amblyopia, or normal vision. Our dichoptic letter chart was composed of band-pass filtered letters arranged in a layout similar to the ETDRS acuity chart. A different chart was presented to each eye of the observer via stereo-shutter glasses. The relative contrast of the corresponding letter in each eye was adjusted by a computer staircase to determine a binocular Balance Point at which the observer reports the letter presented to either eye with equal probability. Amblyopes showed pronounced binocular imbalance across all spatial frequencies, with greater imbalance at high compared to low spatial frequencies (an average increase of 19%, p imbalance may be useful for diagnosing amblyopia and as an outcome measure for recovery of binocular vision following therapy.

  11. Common breast cancer risk alleles and risk assessment

    DEFF Research Database (Denmark)

    Näslund-Koch, C; Nordestgaard, B G; Bojesen, S E

    2017-01-01

    general population were followed in Danish health registries for up to 21 years after blood sampling. After genotyping 72 breast cancer risk loci, each with 0-2 alleles, the sum for each individual was calculated. We used the simple allele sum instead of the conventional polygenic risk score......, as it is likely more sensitive in detecting associations with risks of other endpoints than breast cancer. RESULTS: Breast cancer incidence in the 19,010 women was increased across allele sum quintiles (log-rank trend test; p=1*10(-12)), but not incidence of other cancers (p=0.41). Age- and study-adjusted hazard...... ratio for the 5(th) vs. 1(st) allele sum quintile was 1.82(95% confidence interval;1.53-2.18). Corresponding hazard ratios per allele were 1.04(1.03-1.05) and 1.05(1.02-1.08) for breast cancer incidence and mortality, similar across risk factors. In 50-year old women, the starting age for screening...

  12. 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

  13. Effort-Reward Imbalance and Overcommitment in UK Academics: Implications for Mental Health, Satisfaction and Retention

    Science.gov (United States)

    Kinman, Gail

    2016-01-01

    This study utilises the effort-reward imbalance (ERI) model of job stress to predict several indices of well-being in academics in the UK: mental ill health, job satisfaction and leaving intentions. This model posits that (a) employees who believe that their efforts are not counterbalanced by sufficient rewards will experience impaired well-being…

  14. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    DEFF Research Database (Denmark)

    Kjaergaard, S; Sundberg, K; Jørgensen, F S

    2010-01-01

    The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndrome...... and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting....

  15. Relationship between effort-reward imbalance and hair cortisol concentration in female kindergarten teachers

    NARCIS (Netherlands)

    Qi, Xingliang; Zhang, Jing; Liu, Yapeng; Ji, Shuang; Chen, Zheng; Sluiter, Judith K.; Deng, Huihua

    2014-01-01

    The present study aims to investigate the relationship between effort-reward imbalance and hair cortisol concentration among teachers to examine whether hair cortisol can be a biomarker of chronic work stress. Hair samples were collected from 39 female teachers from three kindergartens. Cortisol was

  16. Nitric oxide synthase gene G298 allele

    International Nuclear Information System (INIS)

    Nagib El-Kilany, Galal E.; Nayel, Ehab; Hazzaa, Sahar

    2004-01-01

    Background: Nitric oxide (NO) has an important effect on blood pressure, arterial wall, and the basal release of endothelial NO in hypertension (HPN) may be reduced. Until now, there is no solid data revealing the potential role of the polymorphism of the nitric oxide synthase gene (NOS) in patients with HPN and microvascular angina. Aim: The aim of the present study is to investigate the gene of endothelial nitric oxide synthase (eNOS), as the polymorphism of this gene may be a putative candidate for HPN and initiate the process of atherosclerosis. Methods: Sixty participants were recruited for this study; 50 were hypertensive patients complaining of chest pain [30 of them have electrocardiogram (EKG) changes of ischemia], 20 had isolated HPN, and 10 healthy volunteers served as control. All patients underwent stress myocardial perfusion imaging (MPI) and coronary angiography. Genotyping of eNOS for all patients and controls was performed. The linkages between HPN, microvascular angina and eNOS gene polymorphism were investigated. Results: MPI and coronary angiography revealed that 15 patients had chest pain with true ischemia and reversible myocardial perfusion defects (multiple and mild) but normal epicardial coronary arteries (microvascular angina), while 15 patients had significant coronary artery disease (CAD), and 20 hypertensive patients showed normal perfusion scan and coronary angiography. The prevalence of the NOS G 298 allele was higher in the hypertensive group with microvascular angina (documented by MPI) than it was among the control participants (P<.005). The eNOS allele was significantly higher in the hypertensive group than in the control participants, but there was no significant difference in homozygote mutants among hypertensive participants, x-syndrome and patients with CAD. Conclusion: eNOS gene polymorphism is proved to be an important etiology in microvascular angina (x-syndrome) among hypertensive patients. In addition, the eNOS mutant

  17. Reliability of a new method for measuring coronal trunk imbalance, the axis-line-angle technique.

    Science.gov (United States)

    Zhang, Rui-Fang; Liu, Kun; Wang, Xue; Liu, Qian; He, Jia-Wei; Wang, Xiang-Yang; Yan, Zhi-Han

    2015-12-01

    Accurate determination of the extent of trunk imbalance in the coronal plane plays a key role in an evaluation of patients with trunk imbalance, such as patients with adolescent idiopathic scoliosis. An established, widely used practice in evaluating trunk imbalance is to drop a plumb line from the C7 vertebra to a key reference axis, the central sacral vertical line (CSVL) in full-spine standing anterioposterior radiographs, and measuring the distance between them, the C7-CSVL. However, measuring the CSVL is subject to intraobserver differences, is error-prone, and is of poor reliability. Therefore, the development of a different way to measure trunk imbalance is needed. This study aimed to describe a new method to measure coronal trunk imbalance, the axis-line-angle technique (ALAT), which measures the angle at the intersection between the C7 plumb line and an axis line drawn from the vertebral centroid of the C7 to the middle of the superior border of the symphysis pubis, and to compare the reliability of the ALAT with that of the C7-CSVL. A prospective study at a university hospital was used. The patient sample consisted of sixty-nine consecutively enrolled men and women patients, aged 10-18 years, who had trunk imbalance defined as C7-CSVL longer than 20 mm on computed full-spine standing anterioposterior radiographs. Data were analyzed to determine the correlation between C7-CSVL and ALAT measurements and to determine intraobserver and interobserver reliabilities. Using a picture archiving and communication system, three radiologists independently evaluated trunk imbalance on the 69 computed radiographs by measuring the C7-CSVL and by measuring the angle determined by the ALAT. Data were analyzed to determine the correlations between the two measures of trunk imbalance, and to determine intraobserver and interobserver reliabilities of each of them. Overall results from the measurements by the C7-CSVL and the ALAT were significantly moderately correlated

  18. 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.

  19. Adaptation of muscles of the lumbar spine to sudden imbalance in patients with lower back pain caused by military training.

    Science.gov (United States)

    Gao, Ying; Shi, Jian-guo; Ye, Hong; Liu, Zhi-rong; Zheng, Long-bao; Ni, Zhi-ming; Fan, Liang-quan; Wang, Jian; Hou, Zhen-hai

    2014-11-01

    This study aims to investigate the effects of sudden load changes (expected and unexpected imbalance) on the activity of muscles of the lumbar spine and their central motor control strategy in military personnel with or without chronic low back pain (LBP). Bilateral sudden imbalance was examined (2 × 2 factorial design). The 117th PLA Hospital, Hangzhou, China Twenty-one male subjects with lower back pain and 21 male healthy control subjects were active members of the Nanjing Military Region land forces. Independent variables: LBP vs. healthy controls and imbalance anticipation (expected and unexpected imbalance). rapid reaction time (RRT) and intensity of rapid reaction (IRR) of bilateral lumbar (L3-L4) erector spinae (ES), lumbar (L5-S1) multifidus (MF), and abdominal external oblique muscles. Results Under expected or unexpected sudden imbalance conditions, subjects with LBP demonstrated significantly greater IRR than healthy controls in ipsilateral and contralateral ES and MF, respectively (P imbalance prolonged RRT of selected trunk muscles in patients with chronic LBP. The activation amplitude increased. The results may provide a theoretical basis for a study on the pathogenesis of chronic LBP.

  20. A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence.

    Science.gov (United States)

    Grucza, Richard A; Wang, Jen C; Stitzel, Jerry A; Hinrichs, Anthony L; Saccone, Scott F; Saccone, Nancy L; Bucholz, Kathleen K; Cloninger, C Robert; Neuman, Rosalind J; Budde, John P; Fox, Louis; Bertelsen, Sarah; Kramer, John; Hesselbrock, Victor; Tischfield, Jay; Nurnberger, John I; Almasy, Laura; Porjesz, Bernice; Kuperman, Samuel; Schuckit, Marc A; Edenberg, Howard J; Rice, John P; Goate, Alison M; Bierut, Laura J

    2008-12-01

    A nonsynonymous coding polymorphism, rs16969968, of the CHRNA5 gene that encodes the alpha-5 subunit of the nicotinic acetylcholine receptor (nAChR) has been found to be associated with nicotine dependence. The goal of this study was to examine the association of this variant with cocaine dependence. Genetic association analysis was performed in two independent samples of unrelated case and control subjects: 1) 504 European Americans participating in the Family Study on Cocaine Dependence (FSCD) and 2) 814 European Americans participating in the Collaborative Study on the Genetics of Alcoholism (COGA). In the FSCD, there was a significant association between the CHRNA5 variant and cocaine dependence (odds ratio = .67 per allele, p = .0045, assuming an additive genetic model), but in the reverse direction compared with that previously observed for nicotine dependence. In multivariate analyses that controlled for the effects of nicotine dependence, both the protective effect for cocaine dependence and the previously documented risk effect for nicotine dependence were statistically significant. The protective effect for cocaine dependence was replicated in the COGA sample. In COGA, effect sizes for habitual smoking, a proxy phenotype for nicotine dependence, were consistent with those observed in FSCD. The minor (A) allele of rs16969968, relative to the major G allele, appears to be both a risk factor for nicotine dependence and a protective factor for cocaine dependence. The biological plausibility of such a bidirectional association stems from the involvement of nAChRs with both excitatory and inhibitory modulation of dopamine-mediated reward pathways.

  1. Ocean heat content and Earth's radiation imbalance. II. Relation to climate shifts

    International Nuclear Information System (INIS)

    Douglass, D.H.; Knox, R.S.

    2012-01-01

    In an earlier study of ocean heat content (OHC) we showed that Earth's empirically implied radiation imbalance has undergone abrupt changes. Other studies have identified additional such climate shifts since 1950. The shifts can be correlated with features in recently updated OHC data. The implied radiation imbalance may possibly alternate in sign at dates close to the climate shifts. The most recent shifts occurred during 2001–2002 and 2008–2009. The implied radiation imbalance between these dates, in the direction of ocean heat loss, was −0.03±0.06 W/m 2 , with a possible systematic error of [−0.00,+0.09] W/m 2 . -- Highlights: ► Ocean heat content (OHC) slope discontinuities match similar Earth climate features. ► OHC slopes between climate shifts give most of the implied radiation balance (IRI). ► IRI often alternates in sign at dates close to the climate shifts. ► IRI between climate shifts of 2001–2002 and 2008–2009 was −0.03±0.06 W/m 2 . ► Geothermal flux is relevant to analyses of radiation imbalance.

  2. 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. Copyright © 2012 John Wiley & Sons, Ltd.

  3. The IL-10-1082 (rs1800896) G allele is associated with a decreased risk of developing premature coronary artery disease and some IL-10 polymorphisms were associated with clinical and metabolic parameters. The GEA study.

    Science.gov (United States)

    Posadas-Sánchez, Rosalinda; Angeles-Martínez, Javier; Pérez-Hernández, Nonanzit; Rodríguez-Pérez, José Manuel; López-Bautista, Fabiola; Flores-Dominguez, Carmina; Fragoso, José Manuel; Posadas-Romero, Carlos; Vargas-Alarcón, Gilberto

    2018-06-01

    Interleukin 10 (IL-10) is an anti-inflammatory cytokine with a protective role in the formation and the development of the atherosclerotic plaque. The aim of the present study was to establish if IL-10 gene polymorphisms are associated with the development of premature coronary artery disease (pCAD) and cardiovascular risk factors in Mexican individuals. Three IL-10 gene polymorphisms [-592C/A (rs1800872), -819C/T (rs1800871), and -1082 A/G (rs1800896)] and IL-10 plasma levels were analyzed in 2266 individuals (1160 pCAD patients and 1106 healthy controls). Under recessive and co-dominant2 models, the -1082 A/G (rs1800896) G allele was associated with decreased risk of developing pCAD (OR = 0.572, P rec  = 0.022 and OR = 0.567, P cod2  = 0.023). In pCAD patients, the polymorphisms were associated with hyperinsulinemia, small and dense LDLs, hypertension, and diabetes mellitus. In the control group, the polymorphisms were associated with hypertension, hyperuricemia, and small and dense LDLs. pCAD patients have significantly higher IL-10 plasma levels than healthy controls [0.91 (0.55-1.67) pg/mL vs 0.45 (0.24-0.98) pg/mL, respectively, P < 0.0001]. Nevertheless, these levels were not associated with the genotypes analyzed in the present study. The results suggest that the IL-10-1082 A/G (rs1800896) G allele is associated with a decreased risk of developing pCAD. In patients and controls, the polymorphisms analyzed were associated with some cardiovascular risk factors. Although, in pCAD patients the IL-10 plasma levels were higher, they were not associated with the genotypes of the polymorphisms examined. Copyright © 2018 Elsevier Ltd. All rights reserved.

  4. Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency

    NARCIS (Netherlands)

    Kiezun, Adam; Pulit, Sara L.; Francioli, Laurent C.; van Dijk, Freerk; Swertz, Morris; Boomsma, Dorret I.; van Duijn, Cornelia M.; Slagboom, P. Eline; van Ommen, G. J. B.; Wijmenga, Cisca; de Bakker, Paul I. W.; Sunyaev, Shamil R.

    Large-scale population sequencing studies provide a complete picture of human genetic variation within the studied populations. A key challenge is to identify, among the myriad alleles, those variants that have an effect on molecular function, phenotypes, and reproductive fitness. Most non-neutral

  5. Population differentiation in allele frequencies of obesity-associated SNPs.

    Science.gov (United States)

    Mao, Linyong; Fang, Yayin; Campbell, Michael; Southerland, William M

    2017-11-10

    Obesity is emerging as a global health problem, with more than one-third of the world's adult population being overweight or obese. In this study, we investigated worldwide population differentiation in allele frequencies of obesity-associated SNPs (single nucleotide polymorphisms). We collected a total of 225 obesity-associated SNPs from a public database. Their population-level allele frequencies were derived based on the genotype data from 1000 Genomes Project (phase 3). We used hypergeometric model to assess whether the effect allele at a given SNP is significantly enriched or depleted in each of the 26 populations surveyed in the 1000 Genomes Project with respect to the overall pooled population. Our results indicate that 195 out of 225 SNPs (86.7%) possess effect alleles significantly enriched or depleted in at least one of the 26 populations. Populations within the same continental group exhibit similar allele enrichment/depletion patterns whereas inter-continental populations show distinct patterns. Among the 225 SNPs, 15 SNPs cluster in the first intron region of the FTO gene, which is a major gene associated with body-mass index (BMI) and fat mass. African populations exhibit much smaller blocks of LD (linkage disequilibrium) among these15 SNPs while European and Asian populations have larger blocks. To estimate the cumulative effect of all variants associated with obesity, we developed the personal composite genetic risk score for obesity. Our results indicate that the East Asian populations have the lowest averages of the composite risk scores, whereas three European populations have the highest averages. In addition, the population-level average of composite genetic risk scores is significantly correlated (R 2 = 0.35, P = 0.0060) with obesity prevalence. We have detected substantial population differentiation in allele frequencies of obesity-associated SNPs. The results will help elucidate the genetic basis which may contribute to population

  6. 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.

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

    International Nuclear Information System (INIS)

    Chaves-Ávila, José Pablo; Hakvoort, Rudi A.; Ramos, Andrés

    2013-01-01

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

  8. The impact of effort-reward imbalance on quality of life among Japanese working men.

    Science.gov (United States)

    Watanabe, Mayumi; Tanaka, Katsutoshi; Aratake, Yutaka; Kato, Noritada; Sakata, Yumi

    2008-07-01

    Health-related quality of life (HRQL) is an important measure of health outcome in working and healthy populations. Here, we investigated the impact of effort-reward imbalance (ERI), a representative work-stress model, on HRQL of Japanese working men. The study targeted 1,096 employees from a manufacturing plant in Japan. To assess HRQL and ERI, participants were surveyed using the Japanese version of the Short-Form 8 Health Survey (SF-8) and effort-reward imbalance model. Of the 1,096 employees, 1,057 provided valid responses to the questionnaire. For physical summary scores, the adjusted effort-reward imbalance odds ratios of middle vs. bottom and top vs. bottom tertiles were 0.24 (95% confidence interval, 0.08-0.70) and 0.09 (95% confidence interval, 0.03-0.28), respectively. For mental summary scores, ratios were 0.21 (95% confidence interval, 0.07-0.63) and 0.07 (95% confidence interval, 0.02-0.25), respectively. These findings demonstrate that effort-reward imbalance is independently associated with HRQL among Japanese employees.

  9. Effects of novel tubing gait on neuromuscular imbalance in cerebral palsy.

    Science.gov (United States)

    Shin, Yoon Kyum; Lee, Dong Ryul; Kim, Do Hyun; Lee, Jae Jin; You, Sung Joshua Hyun; Yi, Chung Hwi; Jeon, Hye Seon

    2014-01-01

    Gait impairments from a neuromuscular imbalance are crucial issues in cerebral palsy. The purpose of our study was to compare the effects of the assistive tubing gait (ATG) and assistive-resistive tubing gait (ARTG) on improving the vasti and hamstring muscle imbalance during the initial contact to mid-stance phases in individuals with spastic diplegic cerebral palsy (CP). Fourteen age-matched individuals including seven normal individuals (11.7 years) and seven individuals with CP (12.9 years) were recruited. All participants underwent electromyography (EMG) measurement of the unilateral vasti and hamstring muscle activity during the three gait training conditions of no-tubing gait (NTG), ATG, and ARTG. A statistical one-way repeated-measure analysis of variance (ANOVA) was used to determine differences in the vasti and hamstring activity, the vasti/hamstring ratio, and the knee joint angle across the three gait training conditions for each group. The initial vasti and hamstring muscle imbalance in CP was significantly improved by applying the ARTG compared with the ATG. The vasti/hamstring ratio during the ARTG was compatible with the ratio value obtained from the NTG of normal individuals. The knee joint angle in CP was not improved in this short-term intervention. The ARTG proportionately increased the vasti activation and reciprocally inhibited the hamstring activity, subsequently improving the neuromuscular imbalance associated with the flexed-knee gait in individuals with spastic diplegic CP.

  10. Mental health among Norwegian priests: associations with effort-reward imbalance and overcommitment.

    Science.gov (United States)

    Lau, Bjørn

    2018-01-01

    The aim of the study was to determine the prevalence of anxiety and depression symptoms among Norwegian priests and to examine their associations with effort-reward imbalance (ERI) and overcommitment. Eight hundred four priests in the Norwegian Church completed the Hospital Anxiety and Depression Scale (HADS), the Effort-Reward Imbalance Questionnaire (ERI-Q), and the Intrinsic Effort Scale, measuring overcommitment. A significant proportion of the priests (23.4%) had HADS scores indicating a possible anxiety problem. Somewhat fewer had depression problems (9.3%). Both anxiety and depression difficulties were associated with an imbalance between effort given and rewards received at work. Priests characterized by a combination of this imbalance and high scores on overcommitment had more anxiety and depression symptoms. There is a higher occurrence of mental health challenges among priests than among the regular population. This applies in particular to anxiety symptoms measured by the HADS. These findings also indicate that it may be fruitful to explore mental health conditions among priests who report different combinations of effort-reward and overcommitment.

  11. External Sector Rebalancing and Endogenous Trade Imbalance Models

    Directory of Open Access Journals (Sweden)

    John Whalley

    2012-12-01

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

  12. 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......-BLUP, Genomic BLUP and Bayesian Lasso. Changes in allele frequencies at QTL, markers and linked neutral loci were investigated for the different selection criteria and different scenarios, along with the loss of favourable alleles and the rate of inbreeding measured by pedigree and runs of homozygosity. Results...

  13. 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.

  14. Molecular monitoring of resistant dhfr and dhps allelic haplotypes in ...

    African Journals Online (AJOL)

    Objective: The present study assesses the frequency of resistant dhfr and dhps alleles in Morogoro-Mvomero district in south eastern Tanzania and contrast their rate of change during 17 years of SP second line use against five years of SP first line use. Methodology: Cross sectional surveys of asymptomatic infections were ...

  15. Allele frequency distribution for 21 autosomal STR loci in Bhutan.

    Science.gov (United States)

    Kraaijenbrink, Thirsa; van Driem, George L; Tshering of Gaselô, Karma; de Knijff, Peter

    2007-07-20

    We studied the allele frequency distribution of 21 autosomal STR loci contained in the AmpFlSTR Identifiler (Applied Biosystems), the Powerplex 16 (Promega) and the FFFL (Promega) multiplex PCR kits among 936 individuals from the Royal Kingdom of Bhutan. As such these are the first published autosomal DNA results from this country.

  16. Allele frequency analysis of Chinese chestnut ( Castanea mollissima ...

    African Journals Online (AJOL)

    The aim of this study was to establish a method for allele frequency detection in bulk samples. The abundance of polymerase chain reaction (PCR) products in bulk leaf samples was detected using fluorescent labeled Simple sequence repeat (SSR) primers and an Applied biosystems (AB) automatic DNA analyzer.

  17. Distribution of HIV-1 resistance-conferring polymorphic alleles SDF ...

    Indian Academy of Sciences (India)

    Polymorphic allelic variants of chemokine receptors CCR2 and CCR5, as well as of stromal-derived factor-1 SDF-1, the ligand for the chemokine receptor CXCR4, are known to have protective effects against HIV-1 infection and to be involved with delay in disease progression. We have studied the DNA polymorphisms at ...

  18. Microangiopathic complications related to different alleles of ...

    African Journals Online (AJOL)

    Egyptian Journal of Biochemistry and Molecular Biology. Journal Home ... Microangiopathic complications related to different alleles of manganese superoxide dismutase gene in diabetes mellitus type 1. TM EL Masry ... 23(2) 2005: 155-167 ...

  19. Patterns of Energy Imbalance of the Meridians in Patients with Temporomandibular Dysfunction.

    Science.gov (United States)

    Rasera Zotelli, Vera L; Grillo, Cássia M; Bressiani Gil, Maria L; Wada, Ronaldo S; Sato, Jorge E; de Sousa, Maria da Luz R

    2018-02-01

    Temporomandibular dysfunction (TMD) is a set of changes that affects the muscles of mastication, temporomandibular joint, teeth, and associated periodontal and orofacial structures. According to Traditional Chinese Medicine, the imbalance of energy (Qi) circulating in the acupuncture meridians is always the primary etiologic cause of any physical manifestation. The aim of this study was to describe the patterns of Qi imbalance in patients with TMD by means of an objective measurement. The clinical study was conducted at the Piracicaba Dental School (FOP/Unicamp), in Piracicaba-SP, Brazil. We evaluated 40 adult volunteers with TMD. The Qi measurement was carried out by the researcher using the Ryodoraku method using 24 points representing the 12 acupuncture meridians: LU9 (Taiyuan), PC7 (Daling), HT7 (Shemen), SI5 (Yanggu), TE4 (Yangchi), LI5 (Yangxi), SP3 (Taibai), LR3 (Taichong), KI3 (Taixi), BL64 (Jinggu), GB40 (Qiuxu), and ST42 (Chongyang). The average total Qi of 40 volunteers (21.7 μA ± 1.5), was below the normal range (40-60 μA) and was classified as deficiency of Qi (empty). The coupled meridians that showed the highest Qi imbalance were the kidney (29.4 μA ± 2.8) and bladder (13.8 μA ± 1). The Qi planes with greatest imbalance were the Shao Yang and Shao Yin. In conclusion, volunteers with TMD presented a pattern of Qi deficiency, and the most prevalent imbalance patterns identified were in the kidney and bladder coupled meridians and in the energetic planes Shao Yin (heart/kidney) and Shao Yang (triple energizer/gall bladder). Copyright © 2017. Published by Elsevier B.V.

  20. Patterns of Energy Imbalance of the Meridians in Patients with Temporomandibular Dysfunction

    Directory of Open Access Journals (Sweden)

    Vera L. Rasera Zotelli

    2018-02-01

    Full Text Available Temporomandibular dysfunction (TMD is a set of changes that affects the muscles of mastication, temporomandibular joint, teeth, and associated periodontal and orofacial structures. According to Traditional Chinese Medicine, the imbalance of energy (Qi circulating in the acupuncture meridians is always the primary etiologic cause of any physical manifestation. The aim of this study was to describe the patterns of Qi imbalance in patients with TMD by means of an objective measurement. The clinical study was conducted at the Piracicaba Dental School (FOP/Unicamp, in Piracicaba-SP, Brazil. We evaluated 40 adult volunteers with TMD. The Qi measurement was carried out by the researcher using the Ryodoraku method using 24 points representing the 12 acupuncture meridians: LU9 (Taiyuan, PC7 (Daling, HT7 (Shemen, SI5 (Yanggu, TE4 (Yangchi, LI5 (Yangxi, SP3 (Taibai, LR3 (Taichong, KI3 (Taixi, BL64 (Jinggu, GB40 (Qiuxu, and ST42 (Chongyang. The average total Qi of 40 volunteers (21.7 μA ± 1.5, was below the normal range (40–60 μA and was classified as deficiency of Qi (empty. The coupled meridians that showed the highest Qi imbalance were the kidney (29.4 μA ± 2.8 and bladder (13.8 μA ± 1. The Qi planes with greatest imbalance were the Shao Yang and Shao Yin. In conclusion, volunteers with TMD presented a pattern of Qi deficiency, and the most prevalent imbalance patterns identified were in the kidney and bladder coupled meridians and in the energetic planes Shao Yin (heart/kidney and Shao Yang (triple energizer/gall bladder.

  1. A new hybrid observer based rotor imbalance vibration control via passive autobalancer and active bearing actuation

    Science.gov (United States)

    Jung, DaeYi; DeSmidt, Hans

    2018-02-01

    Many researchers have explored the use of active bearings, such as non-contact Active Magnetic Bearings (AMB), to control imbalance vibration in rotor systems. Meanwhile, the advantages of a passive Auto-balancer device (ABD) eliminating the imbalance effect of rotor without using other active means have been recently studied. This paper develops a new hybrid imbalance vibration control approach for an ABD-rotor system supported by a normal passive bearing in augmented with an AMB to enhance the balancing and vibration isolation capabilities. Essentially, an ABD consists of several freely moving eccentric balancing masses mounted on the rotor, which, at supercritical operating speeds, act to cancel the rotor's imbalance at steady-state. However, due to the inherent nonlinearity of the ABD, the potential for other, non-synchronous limit-cycle behavior exists resulting in increased rotor vibration. To address this, the algorithm of proposed hybrid control is designed to guarantee globally asymptotic stability of the synchronous balanced condition. This algorithm also incorporates with a "Luenberger-like" observer that continuously estimates the states of a balancer ball circulating around within ABD. In particular, it is shown that the balanced equilibrium can be made globally attractive under the hybrid control strategy, and that the control power levels of AMB are significantly reduced via the addition of the ABD because the control is designed such that it is only switched on for the abnormal operation of ABD and will be disengaged otherwise. Moreover, unlike other imbalance vibration control applications based upon ABD such as rotor speed regulator [21,22], this approach enables the controller to achieve the desirable performance without altering rotor speed once the rotor initially reaches the target speed. These applications are relevant to limited power applications such as in satellite reaction wheels, flywheel energy storage batteries or CD-ROM application.

  2. Procoagulant imbalance in patients with non-alcoholic fatty liver disease.

    Science.gov (United States)

    Tripodi, Armando; Fracanzani, Anna L; Primignani, Massimo; Chantarangkul, Veena; Clerici, Marigrazia; Mannucci, Pier Mannuccio; Peyvandi, Flora; Bertelli, Cristina; Valenti, Luca; Fargion, Silvia

    2014-07-01

    Non-alcoholic fatty liver disease (NAFLD) is characterized by increased risk of cardiovascular events and liver-fibrosis. Both could be explained by a procoagulant-imbalance that was surmised but never directly demonstrated. We investigated 113 patients with varying histological liver damage [steatosis (n=32), steatohepatitis (n=51), metabolic-cirrhosis (n=30)], 54 with alcoholic/viral-cirrhosis and 179 controls. Plasma was evaluated for levels of pro- and anti-coagulants, and for thrombin-generation assessed as endogenous-thrombin-potential (ETP) with and without thrombomodulin or Protac® as protein C activators. The procoagulant-imbalance was defined as ETP-ratio (with-to-without thrombomodulin) or as Protac®-induced-coagulation-inhibition (PICI%). High ETP-ratios or low PICI% indicate resistance to thrombomodulin or Protac® and hence a procoagulant-imbalance. ETP-ratio increased from controls [0.57 (0.11-0.89)] to steatosis [0.72 (0.33-0.86)] and metabolic-cirrhosis [0.80 (0.57-0.95)], (pimbalance detected as ETP-ratio greater or PICI% lower than the median value of controls tended to have a higher risk of metabolic-syndrome, higher intima-media thickness, fibrosis, steatosis or lobular inflammation, all considered clinical manifestations of NAFLD. NAFLD is characterized by a procoagulant-imbalance progressing from the less severe (steatosis) to the most severe form of the disease (metabolic-cirrhosis). This imbalance appears to result from increased factor VIII and reduced protein C and might play a role in the risk of cardiovascular events and liver-fibrosis commonly observed in NAFLD. Copyright © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  3. Discrimination of acute ischemic stroke from nonischemic vertigo in patients presenting with only imbalance.

    Science.gov (United States)

    Honda, Shoji; Inatomi, Yuichiro; Yonehara, Toshiro; Hashimoto, Yoichiro; Hirano, Teruyuki; Ando, Yukio; Uchino, Makoto

    2014-01-01

    Some patients who present with an acute feeling of imbalance are experiencing an ischemic stroke that is not evident on computed tomography (CT) scans. The aim of this study was to compare ischemic stroke and nonischemic vertigo patient groups and to investigate independent factors associated with ischemic stroke. We examined 332 consecutive patients with an acute feeling of imbalance who showed no neurologic findings or responsible lesions on CT scan at the hyperacute phase. We examined their clinical backgrounds, physical findings, and laboratory examinations, with ischemic stroke diagnosed by later CT and/or magnetic resonance imaging (MRI). We identified 41 (12.3%) ischemic stroke patients. Atrial fibrillation (odds ratio 4.1; 95% confidence interval 1.4-11.5), white blood cell count (10(3)/μL, 1.4; 1.2-1.6), head and/or neck pain (4.6; 2.1-10.3), first attack of imbalance feeling (3.3; 1.1-12.2), and dizziness (3.7; 1.7-8.3) were significant and independent factors associated with ischemic stroke among patients with an acute feeling of imbalance. We used these factors to calculate an "imbalance score"; 1 point was given for the presence of each factor and a score of 3-5 points was independently associated with ischemic stroke. An awareness of these factors may indicate that further examinations including MRI are necessary to rule out ischemic stroke. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  4. Early effect of ApoE-epsilon 4 allele on cognitive results in a group of highly performing subjects: the EVA study. Etude sur le Vieillissement Artériel.

    Science.gov (United States)

    Berr, C; Dufouil, C; Brousseau, T; Richard, F; Amouyel, P; Marceteau, E; Alpérovitch, A

    1996-10-25

    We examined the association between apolipoprotein E (ApoE) epsilon 4 allele and cognitive performances in a population sample of 1174 high functioning volunteers aged 59-71 years. The neuropsychological battery included the Mini Mental State Examination (MMSE) and nine tests assessing visual attention, verbal memory, visual processing, logical reasoning, psychomotor rapidity, visual memory, auditory attention and verbal fluency. The ratio of genotypes with zero, one or two epsilon 4 alleles was 70.6%, 21.4% and 1.9%, respectively. The epsilon 4 allele was significantly associated with lower scores for visual attention, psychomotor rapidity and MMSE. In the best performer subgroup (MMSE score above 25, n = 1028), all relationships persisted. Our findings demonstrate that the ApoE-epsilon 4 allele is early associated with low normal cognitive performances in areas which are not specifically affected at the subclinical onset of dementia.

  5. Multifragment alleles in DNA fingerprints of the parrot, Amazona ventralis

    Science.gov (United States)

    Brock, M.K.; White, B.N.

    1991-01-01

    Human DNA probes that identify variable numbers of tandem repeat loci are being used to generate DNA fingerprints in many animal and plant species. In most species the majority of the sc rable autoradiographic bands of the DNA fingerprint represent alleles from numerous unlinked loci. This study was initiated to use DNA fingerprints to determine the amount of band-sharing among captive Hispaniolan parrots (Amazona ventralis) with known genetic relationships. This would form the data base to examine DNA fingerprints of the closely related and endangered Puerto Rican parrot (A. vittata) and to estimate the degree of inbreeding in the relic population. We found by segregation analysis of the bands scored in the DNA fingerprints of the Hispaniolan parrots that there may be as few as two to five loci identified by the human 33.15 probe. Furthermore, at one locus we identified seven alleles, one of which is represented by as many as 19 cosegregating bands. It is unknown how common multiband alleles might be in natural populations, and their existence will cause problems in the assessment of relatedness by band-sharing analysis. We believe, therefore, that a pedigree analysis should be included in all DNA fingerprinting studies, where possible, in order to estimate the number of loci identified by a minisatellite DNA probe and to examine the nature of their alleles.

  6. Abnormal segregation of alleles in CEPH pedigree DNAs arising from allele loss in lymphoblastoid DNA.

    Science.gov (United States)

    Royle, N J; Armour, J A; Crosier, M; Jeffreys, A J

    1993-01-01

    Somatic events that result in the reduction to hemi- or homozygosity at all loci affected by the event have been identified in lymphoblastoid DNA from mothers of two CEPH families. Using suitably informative probes, the allele deficiencies were detected by the abnormal transmission of alleles from grandparents to grandchildren, with the apparent absence of the alleles from the parent. Undetected somatic deficiencies in family DNAs could result in misscoring of recombination events and consequently introduce errors into linkage analysis.

  7. Comment: studies of the Pro12Ala polymorphism of the PPAR-gamma gene in the Danish MONICA cohort: homozygosity of the Ala allele confers a decreased risk of the insulin resistance syndrome

    DEFF Research Database (Denmark)

    Frederiksen, Laura; Brødbaek, Kasper; Fenger, Mogens

    2002-01-01

    with the frequency in the non-IRS group [2.8% (2.1-3.5%); P = 0.02; odds ratio, 0.24 (0.06-0.99)]. Moreover, in the total study population, homozygous carriers of the variant had lower levels of fasting serum triglyceride [1.1 +/- 0.4 mmol/liter (means +/- SD) vs. 1.4 +/- 0.9 mmol/liter; P = 0.04] and a lower...... was examined using PCR-restriction fragment length polymorphism in a phenotypically well characterized population-based sample of 2245 nondiabetic subjects. The study participants were characterized by a number of anthropometric and biochemical measurements and the European Group for the Study of Insulin...... Resistance criteria enabling a classification of the study population in an IRS group and a non-IRS group. The allelic frequency of the Pro12Ala polymorphism in the total study sample was 14% (95% confidence interval, 13-15%). Two hundred ninety-four subjects fulfilled the European Group for the Study...

  8. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

    NARCIS (Netherlands)

    Carmona, Francisco David; Vaglio, Augusto; Mackie, Sarah L.; Hernández-Rodríguez, José; Monach, Paul A.; Castañeda, Santos; Solans, Roser; Morado, Inmaculada C.; Narváez, Francisco Javier; Ramentol-Sintas, Marc; Pease, Colin T.; Dasgupta, Bhaskar; Watts, Richard; Khalidi, Nader A.; Langford, Carol A.; Ytterberg, Steven R.; Boiardi, Luigi; Beretta, Lorenzo; Govoni, Marcello; Emmi, Giacomo; Bonatti, Francesco; Cimmino, Marco A.; Witte, Torsten; Neumann, Thomas; Holle, Julia; Schönau, Verena; Sailler, Laurent; Papo, Thomas; Haroche, Julien; Mahr, Alfred; Mouthon, Luc; Molberg, Øyvind; Diamantopoulos, Andreas P.; Voskuyl, Alexandre E.; Brouwer, Elisabeth; Daikeler, Thomas; Berger, Christoph T.; Molloy, Eamonn S.; O'Neill, Lorraine; Blockmans, Daniel; Lie, Benedicte A.; McLaren, Paul J; Vyse, Timothy J.; Wijmenga, Cisca; Allanore, Yannick; Koeleman, Bobby P.C.; Callejas-Rubio, José Luis; Caminal-Montero, Luis; Corbera-Bellalta, Marc; de Miguel, Eugenio; López, J. Bernardino Díaz; García-Villanueva, María Jesús; Gómez-Vaquero, Carmen; Guijarro-Rojas, Mercedes; Hidalgo-Conde, Ana; Marí-Alfonso, Begoña; Berriochoa, Agustín Martínez; Zapico, Aleida Martínez; Martínez-Taboada, Víctor Manuel; Miranda-Filloy, José A.; Monfort, Jordi; Ortego-Centeno, Norberto; Pérez-Conesa, Mercedes; Prieto-González, Sergio; Raya, Enrique; Fernández, Raquel Ríos; Sánchez-Martín, Julio; Sopeña, Bernardo; Tío, Laura; Unzurrunzaga, Ainhoa; Gough, Andrew; Isaacs, John D.; Green, Michael; McHugh, Neil J.; Hordon, Lesley; Kamath, Sanjeet; Nisar, Mohammed; Patel, Yusuf; Yee, Cee Seng; Stevens, Robert; Nandi, Pradip; Nandagudi, Anupama; Jarrett, Stephen; Li, Charles; Levy, Sarah; Mollan, Susan; Salih, Abdel; Wordsworth, Oliver; Sanders, Emma; Roads, Esme; Gill, Anne; Carr, Lisa; Routledge, Christine; Culfear, Karen; Nugaliyadde, Asanka; James, Lynne; Spimpolo, Jenny; Kempa, Andy; Mackenzie, Felicity; Fong, Rosanna; Peters, Genessa; Rowbotham, Bridie; Masqood, Zahira; Hollywood, Jane; Gondo, Prisca; Wood, Rose; Martin, Steve; Rashid, Lubna Haroon; Robinson, James I.; Morgan, Mike; Sorensen, Louise; Taylor, John C.; Carette, Simon; Chung, Sharon; Cuthbertson, David; Forbess, Lindsy J.; Gewurz-Singer, Ora; Hoffman, Gary S.; Koening, Curry L.; Maksimowicz-McKinnon, Kathleen M.; McAlear, Carol A.; Moreland, Larry W.; Pagnoux, Christian; Seo, Philip; Specks, Ulrich; Spiera, Robert F.; Sreih, Antoine G.; Warrington, Kenneth J.; Weisman, Michael H; Barrett, Jennifer H.; Cid, María C.; Salvarani, Carlo; Merkel, Peter A.; Morgan, Ann W.; González-Gay, Miguel A.; Martín, Javier

    2017-01-01

    Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation,

  9. CARAT: A novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays

    Directory of Open Access Journals (Sweden)

    Ishikawa Shumpei

    2006-02-01

    Full Text Available Abstract Background DNA copy number alterations are one of the main characteristics of the cancer cell karyotype and can contribute to the complex phenotype of these cells. These alterations can lead to gains in cellular oncogenes as well as losses in tumor suppressor genes and can span small intervals as well as involve entire chromosomes. The ability to accurately detect these changes is central to understanding how they impact the biology of the cell. Results We describe a novel algorithm called CARAT (Copy Number Analysis with Regression And Tree that uses probe intensity information to infer copy number in an allele-specific manner from high density DNA oligonuceotide arrays designed to genotype over 100, 000 SNPs. Total and allele-specific copy number estimations using CARAT are independently evaluated for a subset of SNPs using quantitative PCR and allelic TaqMan reactions with several human breast cancer cell lines. The sensitivity and specificity of the algorithm are characterized using DNA samples containing differing numbers of X chromosomes as well as a test set of normal individuals. Results from the algorithm show a high degree of agreement with results from independent verification methods. Conclusion Overall, CARAT automatically detects regions with copy number variations and assigns a significance score to each alteration as well as generating allele-specific output. When coupled with SNP genotype calls from the same array, CARAT provides additional detail into the structure of genome wide alterations that can contribute to allelic imbalance.

  10. 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

  11. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

    Science.gov (United States)

    Cross, Deanna S; Ivacic, Lynn C; Stefanski, Elisha L; McCarty, Catherine A

    2010-06-17

    There is a lack of knowledge regarding the frequency of disease associated polymorphisms in populations and population attributable risk for many populations remains unknown. Factors that could affect the association of the allele with disease, either positively or negatively, such as race, ethnicity, and gender, may not be possible to determine without population based allele frequencies.Here we used a panel of 51 polymorphisms previously associated with at least one disease and determined the allele frequencies within the entire Personalized Medicine Research Project population based cohort. We compared these allele frequencies to those in dbSNP and other data sources stratified by race. Differences in allele frequencies between self reported race, region of origin, and sex were determined. There were 19544 individuals who self reported a single racial category, 19027 or (97.4%) self reported white Caucasian, and 11205 (57.3%) individuals were female. Of the 11,208 (57%) individuals with an identifiable region of origin 8337 or (74.4%) were German.41 polymorphisms were significantly different between self reported race at the 0.05 level. Stratification of our Caucasian population by self reported region of origin revealed 19 polymorphisms that were significantly different (p = 0.05) between individuals of different origins. Further stratification of the population by gender revealed few significant differences in allele frequencies between the genders. This represents one of the largest population based allele frequency studies to date. Stratification by self reported race and region of origin revealed wide differences in allele frequencies not only by race but also by region of origin within a single racial group. We report allele frequencies for our Asian/Hmong and American Indian populations; these two minority groups are not typically selected for population allele frequency detection. Population wide allele frequencies are important for the design and

  12. QuASAR: quantitative allele-specific analysis of reads.

    Science.gov (United States)

    Harvey, Chris T; Moyerbrailean, Gregory A; Davis, Gordon O; Wen, Xiaoquan; Luca, Francesca; Pique-Regi, Roger

    2015-04-15

    Expression quantitative trait loci (eQTL) studies have discovered thousands of genetic variants that regulate gene expression, enabling a better understanding of the functional role of non-coding sequences. However, eQTL studies are costly, requiring large sample sizes and genome-wide genotyping of each sample. In contrast, analysis of allele-specific expression (ASE) is becoming a popular approach to detect the effect of genetic variation on gene expression, even within a single individual. This is typically achieved by counting the number of RNA-seq reads matching each allele at heterozygous sites and testing the null hypothesis of a 1:1 allelic ratio. In principle, when genotype information is not readily available, it could be inferred from the RNA-seq reads directly. However, there are currently no existing methods that jointly infer genotypes and conduct ASE inference, while considering uncertainty in the genotype calls. We present QuASAR, quantitative allele-specific analysis of reads, a novel statistical learning method for jointly detecting heterozygous genotypes and inferring ASE. The proposed ASE inference step takes into consideration the uncertainty in the genotype calls, while including parameters that model base-call errors in sequencing and allelic over-dispersion. We validated our method with experimental data for which high-quality genotypes are available. Results for an additional dataset with multiple replicates at different sequencing depths demonstrate that QuASAR is a powerful tool for ASE analysis when genotypes are not available. http://github.com/piquelab/QuASAR. fluca@wayne.edu or rpique@wayne.edu Supplementary Material is available at Bioinformatics online. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  13. Theory-Driven Models for Correcting Fight or Flight Imbalance in Gulf War Illness

    Science.gov (United States)

    2012-09-01

    homone (LH) and follicle-stimulating hormone (FSH) into circulation. These gonadotropins flow to the gonads where they work synergistically to promote...ratios compared to control subjects [53]. This study also found dysregulated mediators of the stress response (including salivary cortisol) further...Charles (2005) Imbalance in Th Cell Polarization and its Relevance in Type 1 Diabetes Mellitus. The Review of Diabetic Studies. 2:182-186. Silverman

  14. 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.

  15. Charge imbalance induced by a temperature gradient in superconducting aluminum

    International Nuclear Information System (INIS)

    Mamin, H.J.; Clarke, J.; Van Harlingen, D.J.

    1984-01-01

    The quasiparticle transport current induced in a superconducting aluminum film by a temperature gradient has been measured by means of the spatially decaying charge imbalance generated near the end of the sample where the current is divergent. The magnitude and decay length of the charge imbalance are in good agreement with the predictions of a simple model that takes into account the nonuniformity of the temperature gradient. The inferred value of the thermopower in the superconducting state agrees reasonably well with the value measured in the normal state. Measurements of the decay length of charge imbalance induced by current injection yield a value of the inelastic relaxation time tau/sub E/ of about 2 ns. This value is substantially smaller than that obtained from other measurements for reasons that are not known

  16. Estimated allele substitution effects underlying genomic evaluation models depend on the scaling of allele counts

    NARCIS (Netherlands)

    Bouwman, Aniek C.; Hayes, Ben J.; Calus, Mario P.L.

    2017-01-01

    Background: Genomic evaluation is used to predict direct genomic values (DGV) for selection candidates in breeding programs, but also to estimate allele substitution effects (ASE) of single nucleotide polymorphisms (SNPs). Scaling of allele counts influences the estimated ASE, because scaling of

  17. A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.

    Science.gov (United States)

    Baine, Fiona K; Peerbhai, Nabeelah; Krause, Amanda

    2018-07-15

    Huntington disease (HD) is a progressive neurodegenerative disease, characterised by a triad of movement disorder, emotional and behavioural disturbances and cognitive impairment. The underlying cause is an expanded CAG repeat in the huntingtin gene. For a small proportion of patients presenting with HD-like symptoms, the mutation in this gene is not identified and they are said to have a HD "phenocopy". South Africa has the highest number of recorded cases of an African-specific phenocopy, Huntington disease-like 2 (HDL2), caused by a repeat expansion in the junctophilin-3 gene. However, a significant proportion of black patients with clinical symptoms suggestive of HD still test negative for HD and HDL2. This study thus aimed to investigate five other loci associated with HD phenocopy syndromes - ATN1, ATXN2, ATXN7, TBP and C9orf72. In a sample of patients in whom HD and HDL2 had been excluded, a single expansion was identified in the ATXN2 gene, confirming a diagnosis of Spinocerebellar ataxia 2. The results indicate that common repeat expansion disorders do not contribute significantly to the HD-like phenotype in black South African patients. Importantly, allele sizing reveals unique distributions of normal repeat lengths across the associated loci in the African population studied. Copyright © 2018 Elsevier B.V. All rights reserved.

  18. Managing external imbalances in Montenegro - will faciliate integration to EU

    Directory of Open Access Journals (Sweden)

    Jacimović Danijela

    2017-01-01

    Full Text Available Montenegro as a new state has had similar approach to the development models as other European transition economies. High openness to foreign investments andeuroisation have influenced high liquidity, fiscal and financial expansion. With the current crisis, Montenegro is experiencing significant slowdown of economic activity, external imbalances, shortage of foreign capital, low credit activity, fiscal tightening and increase of public debt. This article aims to investigate the main effects to balance of payment imbalances in Montenegro. It compares economic indicators with the Eurozone countries, especially with the countries of the Eurozone periphery, trying to find similiraties and differences and possible policy recommendations, based on the experience in the Eurozone.

  19. 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

  20. The Great Moderation and the U.S. External Imbalance

    OpenAIRE

    Alessandra Fogli; Fabrizio Perri

    2006-01-01

    The early 1980s marked the onset of two striking features of the current world macroeconomy: the fall in U.S. business cycle volatility (the ggreat moderation h) and the large and persistent U.S. external imbalance. In this paper, we argue that an external imbalance is a natural consequence of the great moderation. If a country experiences a fall in volatility greater than that of its partners, its incentives to accumulate precautionary savings fall and this results in a permanent deteriorati...

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

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1998-01-01

    , alleles act codominantly in both pollen and style, in the SSIdom model, alleles form a dominance hierarchy, and in SSIdomcod, alleles are codominant in the style and show a dominance hierarchy in the pollen. Coalescence times of alleles rarely differ more than threefold from those under gametophytic self...

  2. Integration of large amounts of wind power. Markets for trading imbalances

    Energy Technology Data Exchange (ETDEWEB)

    Neimane, Viktoria; Axelsson, Urban [Vattenfall Research and Development AB, Stockholm (Sweden); Gustafsson, Johan; Gustafsson, Kristian [Vattenfall Nordic Generation Management, Stockholm (Sweden); Murray, Robin [Vattenfall Vindkraft AB, Stockholm (Sweden)

    2008-07-01

    The well-known concerns about wind power are related to its intermittent nature and difficulty to make exact forecasts. The expected increase in balancing and reserve requirements due to wind power has been investigated in several studies. This paper takes the next step in studying integration of large amounts of wind power in Sweden. Several wind power producers' and corresponding balance providers' perspective is taken and their imbalance costs modeled. Larger producers having wind power spread over larger geographical areas will have lower relative costs than producers having their units concentrated within limited geographical area. Possibilities of the wind power producers to reduce the imbalance costs by acting on after sales market are exposed and compared. (orig.)

  3. Imbalance costs in the Swedish system with large amounts of wind power

    Energy Technology Data Exchange (ETDEWEB)

    Carlsson, Fredrik; Neimane, Viktoria [Vattenfall Research and Development AB, Stockholm (Sweden)

    2009-07-01

    The well-known concerns about wind power are related to its intermittent nature and difficulty to make exact forecasts. The expected increase in balancing and reserve requirements due to wind power has been investigated in several studies. This paper takes the next step in studying integration of large amounts of wind power in Sweden. Several wind power producers' and corresponding balance providers' perspective is taken and their imbalance costs modeled. Larger producers having wind power spread over larger geographical areas will have lower relative costs than producers having their units concentrated within limited geographical area. Possibilities of the wind power producers to reduce the imbalance costs by acting on after sales market are exposed and compared. (orig.)

  4. Distribution of coat-color-associated alleles in the domestic horse population and Przewalski's horse.

    Science.gov (United States)

    Reissmann, Monika; Musa, Lutfi; Zakizadeh, Sonia; Ludwig, Arne

    2016-11-01

    Considering the hidden mode of inheritance of some coat-color-associated alleles, we investigated the presence/absence of coat-color-associated alleles in 1093 domestic horses of 55 breeds and 20 specimens of Przewalski's horse. For coat-color genotyping, allele specific PCR, pyrosequencing and Li-Cor analyses were conducted on 12 coat-color-associated alleles of five genes. Our data provide deep insight into the distribution of coat-color-associated alleles within breeds. We found that the alleles for the basic colorations (bay, black, and chestnut) are widely distributed and occur in nearly all breeds. Alleles leading to dilutions or patterns are rare in domestic breeds and were not found in Przewalski's horse. Higher frequencies of these alleles are only found in breeds that are selected for their expressed phenotypes (e.g., Kinsky horse, Lewitzer, Tinker). Nevertheless, our study produced strong evidence that molecular testing of the coat color is necessary for well-defined phenotyping to avoid unexpected colorations of offspring that can result in legal action.

  5. Propensity score to detect baseline imbalance in cluster randomized trials: the role of the c-statistic.

    Science.gov (United States)

    Leyrat, Clémence; Caille, Agnès; Foucher, Yohann; Giraudeau, Bruno

    2016-01-22

    Despite randomization, baseline imbalance and confounding bias may occur in cluster randomized trials (CRTs). Covariate imbalance may jeopardize the validity of statistical inferences if they occur on prognostic factors. Thus, the diagnosis of a such imbalance is essential to adjust statistical analysis if required. We developed a tool based on the c-statistic of the propensity score (PS) model to detect global baseline covariate imbalance in CRTs and assess the risk of confounding bias. We performed a simulation study to assess the performance of the proposed tool and applied this method to analyze the data from 2 published CRTs. The proposed method had good performance for large sample sizes (n =500 per arm) and when the number of unbalanced covariates was not too small as compared with the total number of baseline covariates (≥40% of unbalanced covariates). We also provide a strategy for pre selection of the covariates needed to be included in the PS model to enhance imbalance detection. The proposed tool could be useful in deciding whether covariate adjustment is required before performing statistical analyses of CRTs.

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

    Directory of Open Access Journals (Sweden)

    Ekaterina eDobryakova

    2015-03-01

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

  7. 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.

  8. 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

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

    KAUST Repository

    Qi, Jian; Aissa, Sonia

    2010-01-01

    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.

  10. [Effort-reward imbalance at work and depression: current research evidence].

    Science.gov (United States)

    Siegrist, J

    2013-01-01

    In view of highly prevalent stressful conditions in modern working life, in particular increasing work pressure and job insecurity, it is of interest to know whether specific constellations of an adverse psychosocial work environment increase the risk of depressive disorder among employed people. This contribution gives a short overview of current research evidence based on an internationally established work stress model of effort-reward imbalance. Taken together, results from seven prospective epidemiological investigations demonstrate a two-fold elevated relative risk of incident depressive disorder over a mean observation period of 2.7 years among exposed versus non-exposed employees. Additional findings from experimental and quasi-experimental studies point to robust associations of effort-reward imbalance at work with proinflammatory cytokines and markers of reduced immune competence. These latter markers may indicate potential psychobiological pathways. In conclusion, incorporating this new knowledge into medical treatment and preventive efforts seems well justified.

  11. 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.

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

    DEFF Research Database (Denmark)

    Bangsø Nielsen, Henrik

    environmental changes differ widely between the different groups. As a consequence of this, an unrestrained reactor operation can lead to disturbances in the balance between the different microbial groups, which might lead to reactor failure. Therefore, reliable parameters and tools for efficient process...... control and understanding are necessary. The work of present study was directed towards this challenge. Initially, the response of the anaerobic digestion process to various types of process imbalances was investigated with special focus on volatile fatty acid dynamics (VFA), methane production and pH...... of process imbalances in biogas plants. At Danish full-scale biogas plants the biogas production is normally the only continuously measured parameter. In order to examine the usability of propionate as control parameter a reactor experiment was constructed in which the reactor operation either was carried...

  13. Musculoskeletal pain and effort-reward imbalance--a systematic review.

    Science.gov (United States)

    Koch, Peter; Schablon, Anja; Latza, Ute; Nienhaus, Albert

    2014-01-15

    Musculoskeletal pain may be triggered by physical strains and psychosocial risk factors. The effort-reward imbalance model (ERI model) is a stress model which measures psychosocial factors in the working world. The question is whether workers with an effort-reward imbalance report musculoskeletal pain more frequently than those with no effort-reward imbalance. A systematic review using a best evidence synthesis approach was conducted to answer this question. A literature search was conducted for the period from 1996 to 2012, using three databases (Pubmed, Embase and PsycINFO). The research criteria related to psychosocial, work-related stress as per the ERI model and to musculoskeletal pain. A quality score was developed using various quality criteria to assess the standard of the studies. The level of evidence was graded as in (Am J Ind Med 39:180-193, 2001). After applying the inclusion criteria, a total of 19 studies were included in the review: 15 cross-sectional studies, three prospective studies and one case-control study. 74% of all studies exhibited good methodological quality, 53% collected data using the original ERI questionnaire, and in 42% of the studies, there was adequate control for physical working conditions. Furthermore, different cut-off points were used to classify exposed and non-exposed individuals. On the basis of 13 studies with a positive, statistically significant association, a moderate level of evidence was inferred for the association between effort-reward imbalance and musculoskeletal pain. The evidence for a role of over-commitment and for its interaction with effort-reward imbalance was rated as inconclusive - on the basis of eight and five studies, respectively. On the basis of the available evidence, no reliable conclusion may be drawn about any association between the psychosocial factors ascertained using the ERI model and musculoskeletal pain. Before a reliable statement can be made on the association between ERI and

  14. 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 ...

  15. Effort-reward and work-life imbalance, general stress and burnout among employees of a large public hospital in Switzerland

    OpenAIRE

    Hämmig, Oliver; Brauchli, Rebecca; Bauer, Georg F

    2012-01-01

    INTRODUCTION: Effort-reward imbalance (ERI) and work-life imbalance (WLI) are recognised risk factors for work stress and burnout but have not been investigated conjointly so far and compared with each other in this regard. The present cross-sectional study provides initial evidence by studying associations of ERI and WLI with general stress and burnout simultaneously. METHODS: The study was based on survey data collected in 2007 among the personnel of a large public hospital in the canton...

  16. On cuff imbalance and tripolar ENG amplifier configurations.

    Science.gov (United States)

    Triantis, Iasonas F; Demosthenous, Andreas; Donaldson, Nick

    2005-02-01

    Electroneurogram (ENG) recording techniques benefit from the use of tripolar cuffs because they assist in reducing interference from sources outside the cuff. However, in practice the performance of ENG amplifier configurations, such as the quasi-tripole and the true-tripole, has been widely reported to be degraded due to the departure of the tripolar cuff from ideal behavior. This paper establishes the presence of cuff imbalance and investigates its relationship to cuff asymmetry, cuff end-effects and interference source proximity. The paper also presents a comparison of the aforementioned amplifier configurations with a new alternative, termed the adaptive-tripole, developed to automatically compensate for cuff imbalance. The output signal-to-interference ratio of the three amplifier configurations were compared in vivo for two interference signals (stimulus artifact and M-wave) superimposed on compound action potentials. The experiments showed (for the first time) that the two interference signals result in different cuff imbalance values. Nevertheless, even with two distinct cuff imbalances present, the adaptive-tripole performed better than the other two systems in 61.9% of the trials.

  17. Interaction between current imbalance and magnetization in LHC cables

    NARCIS (Netherlands)

    Haverkamp, M.; Kuijper, A.; Kuijper, A.; den Ouden, A.; ten Haken, Bernard; Bottura, L.; ten Kate, Herman 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 ¿I, as large as 100 A, are induced by spatial variations of the field sweep rate and contact resistances. During

  18. THE ROLE OF INORGANIC ION IMBALANCE IN AQUATIC TOXICITY TESTING

    Science.gov (United States)

    Effluent toxicity testing methods have been well defined, but to a large part have not attempted to segregate the effects of active ionic concentrations and ion imbalances upon test and species performances. The role that various total dissolved solids in effluents have on regula...

  19. 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.

  20. Labor Markets in Imbalance: Review of Qualitative Evidence.

    Science.gov (United States)

    Medoff, James L.; Wiener, Jonathan B.

    Recent statistical investigations indicate that labor market imbalance has increased during the past decade and has had important deleterious effects on the nation's inflation and productivity growth records. A growing difficulty in filling skilled jobs at a given unemployment rate is reflected. Business community analysts attribute the growing…

  1. Acid base imbalances in ill neonatal foals and their association with survival.

    Science.gov (United States)

    Viu, J; Armengou, L; Ríos, J; Cesarini, C; Jose-Cunilleras, E

    2017-01-01

    Acid-base imbalances observed in human paediatric patients are associated with outcome. Likewise, neonatal foals may have different acid-base imbalances associated with diagnosis or prognosis. To determine acid-base imbalances by the quantitative method in ill neonatal foals and assess their association with diagnosis and prognosis. Observational prospective clinical study. This study included 65 ill neonatal foals (32 septic, 33 nonseptic) admitted to an equine referral hospital from 2005 to 2011with acid-base parameters determined on admission and a control group of 33 healthy neonatal foals. Blood pH, pCO 2 , sodium, potassium, chloride, L-lactate, albumin and phosphate concentrations were determined. Bicarbonate, globulin, measured strong ion difference (SID m ), nonvolatile weak buffer concentrations (A tot ), base excess and its components were calculated. Analysis of covariance (ANCOVA) and multiple linear regression statistical analyses were performed. Results are summarised as mean ± s.d. for normally distributed variables and median [25-75th percentiles] for non-normally distributed ones. A total of 63% of ill foals had respiratory alkalosis and 58.5% had SID m acidosis. The combination of both alterations was detected in 21 of 65 ill foals and abnormal pH was found in 24 of 65. Compared with healthy foals, ill foals had significantly lower SID m (nonseptic 31.6 ± 6.3 [Pacid-base imbalances observed in ill foals were respiratory alkalosis, SID m acidosis or mixed respiratory alkalosis with strong ion acidosis. Increased venous pCO 2 and blood L-lactate concentration were associated with poor outcome. © 2015 EVJ Ltd.

  2. Allele-Specific DNA Methylation Detection by Pyrosequencing®

    DEFF Research Database (Denmark)

    Kristensen, Lasse Sommer; 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. TRPV6 alleles do not influence prostate cancer progression

    OpenAIRE

    Kessler, Thorsten; Wissenbach, Ulrich; Grobholz, Rainer; Flockerzi, Veit

    2009-01-01

    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 TRPV...

  4. [Psychosocial factors at work and cardiovascular diseases: contribution of the Effort-Reward Imbalance model].

    Science.gov (United States)

    Niedhammer, I; Siegrist, J

    1998-11-01

    The effect of psychosocial factors at work on health, especially cardiovascular health, has given rise to growing concern in occupational epidemiology over the last few years. Two theoretical models, Karasek's model and the Effort-Reward Imbalance model, have been developed to evaluate psychosocial factors at work within specific conceptual frameworks in an attempt to take into account the serious methodological difficulties inherent in the evaluation of such factors. Karasek's model, the most widely used model, measures three factors: psychological demands, decision latitude and social support at work. Many studies have shown the predictive effects of these factors on cardiovascular diseases independently of well-known cardiovascular risk factors. More recently, the Effort-Reward Imbalance model takes into account the role of individual coping characteristics which was neglected in the Karasek model. The effort-reward imbalance model focuses on the reciprocity of exchange in occupational life where high-cost/low-gain conditions are considered particularly stressful. Three dimensions of rewards are distinguished: money, esteem and gratifications in terms of promotion prospects and job security. Some studies already support that high-effort/low reward-conditions are predictive of cardiovascular diseases.

  5. Alleviating Redox Imbalance Enhances 7-Dehydrocholesterol Production in Engineered Saccharomyces cerevisiae.

    Directory of Open Access Journals (Sweden)

    Wan Su

    Full Text Available Maintaining redox balance is critical for the production of heterologous secondary metabolites, whereas on various occasions the native cofactor balance does not match the needs in engineered microorganisms. In this study, 7-dehydrocholesterol (7-DHC, a crucial precursor of vitamin D3 biosynthesis pathway was constructed in Saccharomyces cerevisiae BY4742 with endogenous ergosterol synthesis pathway blocked by knocking out the erg5 gene (encoding C-22 desaturase. The deletion of erg5 led to redox imbalance with higher ratio of cytosolic free NADH/NAD+ and more glycerol and ethanol accumulation. To alleviate the redox imbalance, a water-forming NADH oxidase (NOX and an alternative oxidase (AOX1 were employed in our system based on cofactor regeneration strategy. Consequently, the production of 7-dehydrocholesterol was increased by 74.4% in shake flask culture. In the meanwhile, the ratio of free NADH/NAD+ and the concentration of glycerol and ethanol were reduced by 78.0%, 50.7% and 7.9% respectively. In a 5-L bioreactor, the optimal production of 7-DHC reached 44.49(±9.63 mg/L. This study provides a reference to increase the production of some desired compounds that are restricted by redox imbalance.

  6. 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....

  7. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

    Directory of Open Access Journals (Sweden)

    Melissa D Lage

    Full Text Available Primary Hyperoxaluria Type 1 (PH1 is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT, which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with PH1. While some of the mutations have been found to affect enzyme activity, stability, and/or localization, approximately half of these mutations are completely uncharacterized. In this study, we sought to systematically characterize AGT missense mutations associated with PH1. To facilitate analysis, we used two high-throughput yeast-based assays: one that assesses AGT specific activity, and one that assesses protein stability. Approximately 30% of PH1-associated missense mutations are found in conjunction with a minor allele polymorphic variant, which can interact to elicit complex effects on protein stability and trafficking. To better understand this allele interaction, we functionally characterized each of 34 mutants on both the major (wild-type and minor allele backgrounds, identifying mutations that synergize with the minor allele. We classify these mutants into four distinct categories depending on activity/stability results in the different alleles. Twelve mutants were found to display reduced activity in combination with the minor allele, compared with the major allele background. When mapped on the AGT dimer structure, these mutants reveal localized regions of the protein that appear particularly sensitive to interactions with the minor allele variant. While the majority of the deleterious effects on activity in the minor allele can be attributed to synergistic interaction affecting protein stability, we identify one mutation, E274D, that appears to specifically affect activity when in combination with the minor allele.

  8. 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...

  9. Similar nature of ionic imbalances in cardiovascular and renal disorders

    International Nuclear Information System (INIS)

    Shahid, S.M.; Jawed, M.; Akram, H.; Mahboob, T.

    2004-01-01

    Background: Several studies have reported improper ionic environment in cardiovascular and renal patients but how the diseases are associated on ionic basis is still not clear. Objective: The present study was aimed to investigate sodium and potassium concentrations and their transport abnormalities in cardiovascular and renal patients. Patients and Methods: Thirty patients of various cardiovascular and thirty patients of various renal disorders (53.33% males, 46.67% females) were selected. Erythrocytes were isolated from freshly drawn blood samples, washed and used for the estimation of sodium and potassium levels using flame photometer (Corning 410). Serum sodium and potassium were measured by flame photometer. RBC membranes were prepared for the estimation of Na/sup +/-K/sup +/-ATPase activity in terms of inorganic phosphate released/mg protein/hour. Results: Intra-erythrocyte and serum sodium and potassium concentrations and Na/sup +/-K/sup +/-ATPase activity were different in cardiovascular and renal patients from controls. Intra-erythrocyte sodium level was increased significantly (P<0.01) in cardiovascular patients and non-significantly in renal patients as compared to controls. Na/sup +/-K/sup +/-ATPase activity and serum sodium level were decreased significantly (P<0.01) in both the groups as compared to controls. Serum potassium was found to be decreased significantly (P<0.01) in cardiovascular patients whereas it was raised significantly (P<0.01) in renal patients as compared to control subjects. Conclusion: The results indicated similar nature of ionic and electrolyte imbalances in cardiovascular and renal disorders resulting from impaired Na/sup +/-K/sup +/-ATPase system. Further investigations in the same area, may be of help to establish an understanding of the progression of diseases, associated complications and the preventive steps that should-be taken to arrest the progression of these disorders. (author)

  10. Imbalance between sympathetic and sensory innervation in peritoneal endometriosis.

    Science.gov (United States)

    Arnold, Julia; Barcena de Arellano, Maria L; Rüster, Carola; Vercellino, Giuseppe F; Chiantera, Vito; Schneider, Achim; Mechsner, Sylvia

    2012-01-01

    To investigate possible mechanisms of pain pathophysiology in patients with peritoneal endometriosis, a clinical study on sensory and sympathetic nerve fibre sprouting in endometriosis was performed. Peritoneal lesions (n=40) and healthy peritoneum (n=12) were immunostained and analysed with anti-protein gene product 9.5 (PGP 9.5), anti-substance P (SP) and anti-tyrosine hydroxylase (TH), specific markers for intact nerve fibres, sensory nerve fibres and sympathetic nerve fibres, respectively, to identify the ratio of sympathetic and sensory nerve fibres. In addition, immune cell infiltrates in peritoneal endometriotic lesions were analysed and the nerve growth factor (NGF) and interleukin (IL)-1β expression was correlate with the nerve fibre density. Peritoneal fluids from patients with endometriosis (n=40) and without endometriosis (n=20) were used for the in vitro neuronal growth assay. Cultured chicken dorsal root ganglia (DRG) and sympathetic ganglia were stained with anti-growth associated protein 43 (anti-GAP 43), anti-SP and anti-TH. We could detect an increased sensory and decreased sympathetic nerve fibres density in peritoneal lesions compared to healthy peritoneum. Peritoneal fluids of patients with endometriosis compared to patients without endometriosis induced an increased sprouting of sensory neurites from DRG and decreased neurite outgrowth from sympathetic ganglia. In conclusion, this study demonstrates an imbalance between sympathetic and sensory nerve fibres in peritoneal endometriosis, as well as an altered modulation of peritoneal fluids from patients with endometriosis on sympathetic and sensory innervation which might directly be involved in the maintenance of inflammation and pain. Copyright © 2011 Elsevier Inc. All rights reserved.

  11. Oxidative stress markers imbalance in late-life depression.

    Science.gov (United States)

    Diniz, Breno S; Mendes-Silva, Ana Paula; Silva, Lucelia Barroso; Bertola, Laiss; Vieira, Monica Costa; Ferreira, Jessica Diniz; Nicolau, Mariana; Bristot, Giovana; da Rosa, Eduarda Dias; Teixeira, Antonio L; Kapczinski, Flavio

    2018-03-20

    Oxidative stress has been implicated in the pathophysiology of mood disorders in young adults. However, there is few data to support its role in the elderly. The primary aim of this study was to evaluate whether subjects with late-life depression (LLD) presented with changes in oxidative stress response in comparison with the non-depressed control group. We then explored how oxidative stress markers associated with specific features of LLD, in particular cognitive performance and age of onset of major depressive disorder in these individuals. We included a convenience sample of 124 individuals, 77 with LLD and 47 non-depressed subjects (Controls). We measure the plasma levels of 6 oxidative stress markers: thiobarbituric acid reactive substances (TBARS), protein carbonil content (PCC), free 8-isoprostane, glutathione peroxidase (GPx) activity, glutathione reductase (GR) activity, and glutathione S-transferase (GST) activity. We found that participants with LLD had significantly higher free 8-isoprostane levels (p = 0.003) and lower glutathione peroxidase activity (p = 0.006) compared to controls. Free 8-isoprostane levels were also significantly correlated with worse scores in the initiation/perseverance (r = -0.24, p = 0.01), conceptualization (r = -0.22, p = 0.02) sub-scores, and the total scores (r = -0.21, p = 0.04) on the DRS. Our study provides robust evidence of the imbalance between oxidative stress damage, in particular lipid peroxidation, and anti-oxidative defenses as a mechanism related to LLD, and cognitive impairment in this population. Interventions aiming to reduce oxidative stress damage can have a potential neuroprotective effect for LLD subjects. Copyright © 2018 Elsevier Ltd. All rights reserved.

  12. Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences

    NARCIS (Netherlands)

    Floros, J.; Fan, R.; Matthews, A.; DiAngelo, S.; Luo, J.; Nielsen, H.; Dunn, M.; Gewolb, I. H.; Koppe, J.; Van Sonderen, L.; Farri-Kostopoulos, L.; Tzaki, M.; Rämet, M.; Merrill, J.

    2001-01-01

    A key cause of respiratory distress syndrome (RDS) in the prematurely born infant is deficiency of pulmonary surfactant, a lipoprotein complex. Both low levels of surfactant protein A (SP-A) and SP-A alleles have been associated with RDS. Using the candidate gene approach, we performed family-based

  13. Postural imbalance and falls in PSP correlate with functional pathology of the thalamus.

    Science.gov (United States)

    Zwergal, A; la Fougère, C; Lorenzl, S; Rominger, A; Xiong, G; Deutschenbaur, L; Linn, J; Krafczyk, S; Dieterich, M; Brandt, T; Strupp, M; Bartenstein, P; Jahn, K

    2011-07-12

    To determine how postural imbalance and falls are related to regional cerebral glucose metabolism (PET) and functional activation of the cerebral postural network (fMRI) in patients with progressive supranuclear palsy (PSP). Sixteen patients with PSP, who had self-monitored their frequency of falls, underwent a standardized clinical assessment, posturographic measurement of balance during modified sensory input, and a resting [¹⁸F]FDG-PET. In addition, patients performed an fMRI paradigm using mental imagery of standing. Results were compared to healthy controls (n = 16). The frequency of falls/month in patients (range 1-40) correlated with total PSP rating score (r = 0.90). Total sway path in PSP significantly correlated with frequency of falls, especially during modulated sensory input (eyes open: r = 0.62, eyes closed: r = 0.67, eyes open/head extended: r = 0.84, eyes open/foam-padded platform: r = 0.87). Higher sway path values and frequency of falls were associated with decreased regional glucose metabolism (rCGM) in the thalamus (sway path: r = -0.80, falls: r = -0.64) and increased rCGM in the precentral gyrus (sway path: r = 0.79, falls: r = 0.64). Mental imagery of standing during fMRI revealed a reduced activation of the mesencephalic brainstem tegmentum and the thalamus in patients with postural imbalance and falls. The new and clinically relevant finding of this study is that imbalance and falls in PSP are closely associated with thalamic dysfunction. Deficits in thalamic postural control get most evident when balance is assessed during modified sensory input. The results are consistent with the hypothesis that reduced thalamic activation via the ascending brainstem projections may cause postural imbalance in PSP.

  14. The In Vitro Influence of a Genetic Superoxide-Hydrogen Peroxide Imbalance on Immunosenescence.

    Science.gov (United States)

    Barbisan, Fernanda; Azzolin, Verônica Farina; Ribeiro, Euler Esteves; Duarte, Marta Maria Medeiros Frescura; da Cruz, Ivana Beatrice Mânica

    2017-08-01

    As superoxide is a key molecule of inflammatory activation, superoxide-hydrogen peroxide (S-HP) imbalance genetically caused could alter immunosenescence patterns. To test this hypothesis, we collected and cultured peripheral blood mononuclear cells (PBMCs) carrier's different genotypes of a genetic polymorphism located in the superoxide dismutase manganese-dependent gene (Val16Ala-SOD2). We used an in vitro genetic model based on previous studies, which suggested an association between homozygous genotypes (AA and VV) and alterations in oxidative-inflammatory mediators. PBMCs collected from young healthy volunteers were cultured in the presence of phytohemagglutinin, as well as the following cell culture passages obtained from the 72-hour initial culture. Each follow passage started with the same cell concentration (1 × 10 5 cells). The general immunosenescence pattern was observed independent of SOD2 genotypes: cellular proliferation until the 15th passage, when cellular arrestment occurred in the G0/G1 phase. From the 10th passage, a higher proliferative state was observed, indicating inflammatory hyperactivation, with an increase in the levels of inflammatory cytokines (IL-1, IL-6, and TNFα), nitric oxide, superoxide, lipoperoxidation, protein carbonylation, reactive oxygen species, and DNA damage. The S-HP imbalance affected the intensity of some immunosenescence parameters. AA cells, which present basal high HP levels, were associated with higher DNA damage and lipoperoxidation levels, whereas VV, which present basal high S levels, was associated with higher proinflammatory cytokine levels. In summary, the results suggested that a basal S-HP imbalance could affect the intensity of some immunosenescence markers, and this influence could explain the potential association between an imbalance of genotypes (AA and VV) and the risk of developing some chronic diseases.

  15. Effort-reward imbalance in the school setting: associations with somatic pain and self-rated health.

    Science.gov (United States)

    Låftman, Sara Brolin; Modin, Bitte; Östberg, Viveca; Hoven, Hanno; Plenty, Stephanie

    2015-03-01

    According to the workplace theory of effort-reward imbalance (ERI), individuals who perceive a lack of reciprocity between their effort spent at work and the rewards received in turn are at an increased risk of stress-related ill-health. It is also assumed that being overcommitted to work is linked to an increased risk of stress-related ill-health. This study applies the effort-reward imbalance model to the school setting. It aims to analyse the associations that effort-reward imbalance and overcommitment share with somatic pain and self-rated health among adolescents. Data are from the School Stress and Support Study (TriSSS), involving students in grades 8 and 9 (ages 14-16 years) in two schools in Stockholm, Sweden, during 2010 (n=403). Information on effort-reward imbalance and health outcomes was gathered from self-report questionnaires. An adjusted short version of ERI was used. Factor analysis showed that extrinsic effort, reward and overcommitment constitute three distinct dimensions. The designed measures demonstrated sound psychometric properties both for the full sample and for subgroups. Ordered logistic regressions were conducted. The analyses showed that low reward and higher overcommitment were associated with greater somatic pain and poorer self-rated health. Furthermore, effort-reward imbalance was linked with an elevated risk of somatic pain and poorer self-rated health. Students are more likely to experience stress-related ill-health when they perceive an imbalance between their effort and rewards. In addition, high overcommitment is associated with an increased risk of ill-health among students. © 2014 the Nordic Societies of Public Health.

  16. Work–life balance/imbalance: the dominance of the middle class and the neglect of the working class

    OpenAIRE

    Warren, Tracey

    2015-01-01

    The paper was stimulated by the question of class in work-life debates. The common conclusion from work-life studies is that work-life imbalance is largely a middle class problem. It is argued here that this assertion is a direct outcome of a particular and narrow interpretation of work-life imbalance in which time is seen to be the major cause of difficulty. Labour market time, and too much of it, dominates the conceptualisation of work-life and its measurement too. This heavy focus on a cer...

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

    OpenAIRE

    MAKABE, Sachiko; TAKAGAI, Junko; ASANUMA, Yoshihiro; OHTOMO, Kazuo; KIMURA, Yutaka

    2014-01-01

    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 othe...

  18. Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity.

    Science.gov (United States)

    King, Elizabeth G; Sanderson, Brian J; McNeil, Casey L; Long, Anthony D; Macdonald, Stuart J

    2014-05-01

    Modern genetic mapping is plagued by the "missing heritability" problem, which refers to the discordance between the estimated heritabilities of quantitative traits and the variance accounted for by mapped causative variants. One major potential explanation for the missing heritability is allelic heterogeneity, in which there are multiple causative variants at each causative gene with only a fraction having been identified. The majority of genome-wide association studies (GWAS) implicitly assume that a single SNP can explain all the variance for a causative locus. However, if allelic heterogeneity is prevalent, a substantial amount of genetic variance will remain unexplained. In this paper, we take a haplotype-based mapping approach and quantify the number of alleles segregating at each locus using a large set of 7922 eQTL contributing to regulatory variation in the Drosophila melanogaster female head. Not only does this study provide a comprehensive eQTL map for a major community genetic resource, the Drosophila Synthetic Population Resource, but it also provides a direct test of the allelic heterogeneity hypothesis. We find that 95% of cis-eQTLs and 78% of trans-eQTLs are due to multiple alleles, demonstrating that allelic heterogeneity is widespread in Drosophila eQTL. Allelic heterogeneity likely contributes significantly to the missing heritability problem common in GWAS studies.

  19. Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity.

    Directory of Open Access Journals (Sweden)

    Elizabeth G King

    2014-05-01

    Full Text Available Modern genetic mapping is plagued by the "missing heritability" problem, which refers to the discordance between the estimated heritabilities of quantitative traits and the variance accounted for by mapped causative variants. One major potential explanation for the missing heritability is allelic heterogeneity, in which there are multiple causative variants at each causative gene with only a fraction having been identified. The majority of genome-wide association studies (GWAS implicitly assume that a single SNP can explain all the variance for a causative locus. However, if allelic heterogeneity is prevalent, a substantial amount of genetic variance will remain unexplained. In this paper, we take a haplotype-based mapping approach and quantify the number of alleles segregating at each locus using a large set of 7922 eQTL contributing to regulatory variation in the Drosophila melanogaster female head. Not only does this study provide a comprehensive eQTL map for a major community genetic resource, the Drosophila Synthetic Population Resource, but it also provides a direct test of the allelic heterogeneity hypothesis. We find that 95% of cis-eQTLs and 78% of trans-eQTLs are due to multiple alleles, demonstrating that allelic heterogeneity is widespread in Drosophila eQTL. Allelic heterogeneity likely contributes significantly to the missing heritability problem common in GWAS studies.

  20. Impact of Hot Environment on Fluid and Electrolyte Imbalance, Renal Damage, Hemolysis, and Immune Activation Postmarathon

    Directory of Open Access Journals (Sweden)

    Rodrigo Assunção Oliveira

    2017-01-01

    Full Text Available Previous studies have demonstrated the physiological changes induced by exercise exposure in hot environments. We investigated the hematological and oxidative changes and tissue damage induced by marathon race in different thermal conditions. Twenty-six male runners completed the São Paulo International Marathon both in hot environment (HE and in temperate environment (TE. Blood and urine samples were collected 1 day before, immediately after, 1 day after, and 3 days after the marathon to analyze the hematological parameters, electrolytes, markers of tissue damage, and oxidative status. In both environments, the marathon race promotes fluid and electrolyte imbalance, hemolysis, oxidative stress, immune activation, and tissue damage. The marathon runner’s performance was approximately 13.5% lower in HE compared to TE; however, in HE, our results demonstrated more pronounced fluid and electrolyte imbalance, renal damage, hemolysis, and immune activation. Moreover, oxidative stress induced by marathon in HE is presumed to be related to protein/purine oxidation instead of other oxidative sources. Fluid and electrolyte imbalance and protein/purine oxidation may be important factors responsible for hemolysis, renal damage, immune activation, and impaired performance after long-term exercise in HE. Nonetheless, we suggested that the impairment on performance in HE was not associated to the muscle damage and lipoperoxidation.

  1. Mutant power: using mutant allele collections for yeast functional genomics.

    Science.gov (United States)

    Norman, Kaitlyn L; Kumar, Anuj

    2016-03-01

    The budding yeast has long served as a model eukaryote for the functional genomic analysis of highly conserved signaling pathways, cellular processes and mechanisms underlying human disease. The collection of reagents available for genomics in yeast is extensive, encompassing a growing diversity of mutant collections beyond gene deletion sets in the standard wild-type S288C genetic background. We review here three main types of mutant allele collections: transposon mutagen collections, essential gene collections and overexpression libraries. Each collection provides unique and identifiable alleles that can be utilized in genome-wide, high-throughput studies. These genomic reagents are particularly informative in identifying synthetic phenotypes and functions associated with essential genes, including those modeled most effectively in complex genetic backgrounds. Several examples of genomic studies in filamentous/pseudohyphal backgrounds are provided here to illustrate this point. Additionally, the limitations of each approach are examined. Collectively, these mutant allele collections in Saccharomyces cerevisiae and the related pathogenic yeast Candida albicans promise insights toward an advanced understanding of eukaryotic molecular and cellular biology. © The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  2. 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.

  3. Spontaneous correction of coronal imbalance after selective thoracolumbar-lumbar fusion in patients with Lenke-5C adolescent idiopathic scoliosis.

    Science.gov (United States)

    Hwang, Chang Ju; Lee, Choon Sung; Kim, Hyojune; Lee, Dong-Ho; Cho, Jae Hwan

    2018-03-22

    Coronal imbalance is a complication of corrective surgeries in adolescent idiopathic scoliosis (AIS). However, few studies about immediate coronal decompensation in Lenke-5C curves have reported its incidence, prognosis, and related factors. To evaluate the development of coronal imbalance after selective thoracolumbar-lumbar (TL/L) fusion (SLF) in Lenke-5C AIS, and to reveal related factors. Retrospective comparative study. This study included 50 consecutive patients with Lenke-5C AIS who underwent SLF at a single center. Whole-spine anteroposterior and lateral radiographs were used to measure radiological parameters. Patients were divided into two groups according to the presence or absence of coronal imbalance (distance between C7 plumb line and central sacral vertical line >2 cm) in the early (1 month) postoperative period. Various radiological parameters were statistically compared between groups. Of the patients, 28% (14 of 50) showed coronal imbalance in the early postoperative period; however, most of them (13 of 14) showed spontaneous correction during follow-up. The development of coronal imbalance was related to less flexibility of the TL/L curve (51.3% vs. 52.6%, p=.040), greater T10-L2 kyphosis (11.7° vs. 6.4°, p=.034), and greater distal junctional angle (6.0° vs. 3.7°, p=.025) in preoperative radiographs. Lowermost instrumented vertebra (LIV) tilt was greater in the decompensation [+] group in the early postoperative period (8.8° vs. 4.4°, p=.009). However, this difference disappeared in final follow-up with the decrease of LIV tilt in the decompensation [+] group. Less flexibility of the TL/L curve, greater TL kyphosis, and greater distal junctional angle preoperatively were predictive factors for immediate coronal imbalance in Lenke-5C curves. Although coronal imbalance was frequently detected in the early postoperative period after SLF, it was mostly corrected spontaneously with a decrease of LIV tilt. Thus, SLF for Lenke-5C curves can be

  4. Work ability, effort-reward imbalance and disability pension claims.

    Science.gov (United States)

    Wienert, J; Spanier, K; Radoschewski, F M; Bethge, M

    2017-12-30

    Effort-reward imbalance (ERI) and self-rated work ability are known independent correlates and predictors of intended disability pension claims. However, little research has focused on the interrelationship between the three and whether self-rated work ability mediates the relationship between ERI and intended disability pension claims. To investigate whether self-rated work ability mediates the association between ERI and intended disability pension claims. Baseline data from participants of the Third German Sociomedical Panel of Employees, a 5-year cohort study that investigates determinants of work ability, rehabilitation utilization and disability pensions in employees who have previously received sickness benefits, were analysed. We tested direct associations between ERI with intended disability pension claims (Model 1) and self-rated work ability (Model 2). Additionally, we tested whether work ability mediates the association between ERI and intended disability pension claims (Model 3). There were 2585 participants. Model 1 indicated a significant association between ERI and intended disability pension claims. Model 2 showed a significant association between ERI and self-rated work ability. The mediation in Model 3 revealed a significant indirect association between ERI and intended disability pension claims via self-rated work ability. There was no significant direct association between ERI and intended disability pension claims. Our results support the adverse health-related impact of ERI on self-rated work ability and intended disability pension claims. © The Author 2017. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  5. 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.

  6. The Effect of the Demand Control and Effort Reward Imbalance Models on the Academic Burnout of Korean Adolescents

    Science.gov (United States)

    Lee, Jayoung; Puig, Ana; Lee, Sang Min

    2012-01-01

    The purpose of this study was to examine the effects of the Demand Control Model (DCM) and the Effort Reward Imbalance Model (ERIM) on academic burnout for Korean students. Specifically, this study identified the effects of the predictor variables based on DCM and ERIM (i.e., demand, control, effort, reward, Demand Control Ratio, Effort Reward…

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

    NARCIS (Netherlands)

    Hanson, E.K.S.

    2000-01-01

    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

  8. Genotype distribution and allele frequencies of the genes associated with body composition and locomotion traits in Myanmar native horses.

    Science.gov (United States)

    Okuda, Yu; Moe, Hla Hla; Moe, Kyaw Kyaw; Shimizu, Yuki; Nishioka, Kenji; Shimogiri, Takeshi; Mannen, Hideyuki; Kanemaki, Misao; Kunieda, Tetsuo

    2017-08-01

    Myanmar native horses are small horses used mainly for drafting carts or carriages in rural areas and packing loads in mountainy areas. In the present study, we investigated genotype distributions and allele frequencies of the LCORL/NCAPG, MSTN and DMRT3 genes, which are associated with body composition and locomotion traits of horses, in seven local populations of Myanmar native horses. The genotyping result of LCORL/NCAPG showed that allele frequencies of C allele associated with higher withers height ranged from 0.08 to 0.27, and 0.13 in average. For MSTN, allele frequencies of C allele associated with higher proportion of Type 2B muscular fiber ranged from 0.05 to 0.23, and 0.09 in average. For DMRT3, allele frequencies of A allele associated with ambling gait ranged from 0 to 0.04, and 0.01 in average. The presences of the minor alleles of these genes at low frequencies suggest a possibility that these horse populations have not been under strong selection pressure for particular locomotion traits and body composition. Our findings of the presence of these minor alleles in Southeast Asian native horses are also informative for considering the origins of these minor alleles associated with body composition and locomotion traits in horse populations. © 2016 Japanese Society of Animal Science.

  9. Work-life balance/imbalance: the dominance of the middle class and the neglect of the working class.

    Science.gov (United States)

    Warren, Tracey

    2015-12-01

    The paper was stimulated by the relative absence of the working class from work-life debates. The common conclusion from work-life studies is that work-life imbalance is largely a middle-class problem. It is argued here that this classed assertion is a direct outcome of a particular and narrow interpretation of work-life imbalance in which time is seen to be the major cause of difficulty. Labour market time, and too much of it, dominates the conceptualization of work-life and its measurement too. This heavy focus on too much labour market time has rendered largely invisible from dominant work-life discourses the types of imbalance that are more likely to impact the working class. The paper's analysis of large UK data-sets demonstrates a reduction in hours worked by working-class men, more part-time employment in working-class occupations, and a substantial growth in levels of reported financial insecurity amongst the working classes after the 2008-9 recession. It shows too that economic-based work-life imbalance is associated with lower levels of life satisfaction than is temporal imbalance. The paper concludes that the dominant conceptualization of work-life disregards the major work-life challenge experienced by the working class: economic precarity. The work-life balance debate needs to more fully incorporate economic-based work-life imbalance if it is to better represent class inequalities. © London School of Economics and Political Science 2015.

  10. Sleep restriction progress to cardiac autonomic imbalance ...

    African Journals Online (AJOL)

    Since it's more difficult to maintain adequate sleep duration among night watchmen during their working schedule, hence the purpose of our present study was to investigate whether mental stress or fatigue over restricted sleep period in night shift, affects HRV, in order to elucidate on cardiac autonomic modulation among ...

  11. Dietary imbalance in some communities of Transylvania.

    Science.gov (United States)

    Zapîrtan, H; Ionuţ, Carmen; Vlad, Mariana; Creţeanu, Emilia; Sinca, A

    2006-01-01

    The relationship between diet intake and nutritional needs may be the most important factor which influences the health status from a nutritional point of view. Essential for maintaining health status is to keep this two constituents in balance. To evaluate the diet and nutritional status, we enrolled in an observational cross-sectional study, a population of 312 people, 202 females and 110 males, categorized by age (20-40 years, 41-65 years and over 65 years) and by physical exertion (low, medium and high). The food intake was under reference values in the case of vegetable proteins (-9.99%), carbohydrates (-24.17%) and energy (-10.29%) and over the reference values of animal fats (+24.15%) in the female population and under the reference values of carbohydrates (-24.44%) and over these values in the case of animal fats (+29.83%), total fats (+13.78%) and animal proteins (+15.02%) in the male population of the study. The investigation of the arterial pressure shows that 18.5% of females and 13.5% of males have arterial hypertension which means that for the entire study population the incidence was 16%. This data correlated with the values of body mass index which were over the normal values in 35.5% of females and 23.5% of males, and in 32.38% of the whole study population, indicated a high percent of overweight and together with the deficiency from the lipids metabolism shows the significance of the effect of the over-intake of fats, especially from animal origin, on the health status and in particular, on the cardiovascular system. On the other hand, the body mass indices were found under the low limits in 23.5% of females and in 15.3% of males, and in 21.3% of the study population, thus the correlation with the low carbohydrate and energy intake is obvious.

  12. Fracture of fusion mass after hardware removal in patients with high sagittal imbalance.

    Science.gov (United States)

    Sedney, Cara L; Daffner, Scott D; Stefanko, Jared J; Abdelfattah, Hesham; Emery, Sanford E; France, John C

    2016-04-01

    As spinal fusions become more common and more complex, so do the sequelae of these procedures, some of which remain poorly understood. The authors report on a series of patients who underwent removal of hardware after CT-proven solid fusion, confirmed by intraoperative findings. These patients later developed a spontaneous fracture of the fusion mass that was not associated with trauma. A series of such patients has not previously been described in the literature. An unfunded, retrospective review of the surgical logs of 3 fellowship-trained spine surgeons yielded 7 patients who suffered a fracture of a fusion mass after hardware removal. Adult patients from the West Virginia University Department of Orthopaedics who underwent hardware removal in the setting of adjacent-segment disease (ASD), and subsequently experienced fracture of the fusion mass through the uninstrumented segment, were studied. The medical records and radiological studies of these patients were examined for patient demographics and comorbidities, initial indication for surgery, total number of surgeries, timeline of fracture occurrence, risk factors for fracture, as well as sagittal imbalance. All 7 patients underwent hardware removal in conjunction with an extension of fusion for ASD. All had CT-proven solid fusion of their previously fused segments, which was confirmed intraoperatively. All patients had previously undergone multiple operations for a variety of indications, 4 patients were smokers, and 3 patients had osteoporosis. Spontaneous fracture of the fusion mass occurred in all patients and was not due to trauma. These fractures occurred 4 months to 4 years after hardware removal. All patients had significant sagittal imbalance of 13-15 cm. The fracture level was L-5 in 6 of the 7 patients, which was the first uninstrumented level caudal to the newly placed hardware in all 6 of these patients. Six patients underwent surgery due to this fracture. The authors present a case series of 7

  13. Sensory Gating and Alpha-7 Nicotinic Receptor Gene Allelic Variants in Schizoaffective Disorder, Bipolar Type

    Science.gov (United States)

    Martin, Laura F.; Leonard, Sherry; Hall, Mei-Hua; Tregellas, Jason R.; Freedman, Robert; Olincy, Ann

    2011-01-01

    Objectives Single nucleotide allelic variants in the promoter region of the chromosome 15 alpha-7 acetylcholine nicotinic receptor gene (CHRNA7) are associated with both schizophrenia and the P50 auditory evoked potential sensory gating deficit. The purpose of this study was to determine if CHRNA7 promoter allelic variants are also associated with abnormal P50 ratios in persons with schizoaffective disorder, bipolar type. Methods P50 auditory evoked potentials were recorded in a paired stimulus paradigm in 17 subjects with schizoaffective disorder, bipolar type. The P50 test to conditioning ratio was used as the measure of sensory gating. Mutation screening of the CHRNA7 promoter region was performed on the subjects’ DNA samples. Comparisons to previously obtained data from persons with schizophrenia and controls were made. Results Subjects with schizophrenia, regardless of allele status, had an abnormal mean P50 ratio. Subjects with schizoaffective disorder, bipolar type and a variant allele had an abnormal mean P50 ratio, whereas those schizoaffective subjects with the common alleles had a normal mean P50 ratio. Normal control subjects had a normal mean ratio, but controls with variant alleles had higher P50 ratios. Conclusions In persons with bipolar type schizoaffective disorder, CHRNA7 promoter region allelic variants are linked to the capacity to inhibit the P50 auditory evoked potential and thus are associated with a type of illness genetically and biologically more similar to schizophrenia. PMID:17192894

  14. 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

  15. Allelic inhibition of displacement activity: a simplified one tube allele-specific PCR for evaluation of ITPA polymorphisms.

    Science.gov (United States)

    Galmozzi, E; Facchetti, F; Degasperi, E; Aghemo, A; Lampertico, P

    2013-02-01

    Recently, genome-wide association studies (GWAS) in patients with chronic hepatitis C virus (HCV) infection have identified two functional single nucleotide polymorphisms (SNPs) in the inosine triphosphatase (ITPA) gene, that are associated strongly and independently with hemolytic anemia in patients exposed to pegylated-interferon (Peg-IFN) plus ribavirin (RBV) combined therapy. Here has been developed a simplified allele discrimination polymerase chain reaction (PCR) assay named allelic inhibition of displacement activity (AIDA) for evaluation of ITPA polymorphisms. AIDA system relies on three unlabeled primers only, two outer common primers and one inner primer with allele-specific 3' terminus mismatch. DNA samples from 192 patients with chronic HCV infection were used to validate the AIDA system and results were compared with the gold standard TaqMan(®) SNP genotyping assay. Concordant data were obtained for all samples, granting for high specificity of the method. In conclusion, AIDA is a practical one-tube method to reproducibly and to assess accurately rs7270101 and rs1127354 ITPA SNPs. Copyright © 2012 Elsevier B.V. All rights reserved.

  16. Spinal pedicle subtraction osteotomy for fixed sagittal imbalance patients

    Science.gov (United States)

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

    2013-01-01

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

  17. Prevalence and distribution of muscle-imbalance in the human body ...

    African Journals Online (AJOL)

    The phenomenon of muscle imbalance is pandemic, and may contribute to problems such as poor posture, low back pain. Significant is the fact that muscle imbalance may influence the motor patterning process. Key words: Muscle imbalance, low back pain, posture, malposture, withdrawal response. (Af. J. Physical, Health ...

  18. 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,…

  19. 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

    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

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

    Science.gov (United States)

    Cuadrado-Gordillo, Isabel

    2012-01-01

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

  1. KNEE ISOKINETIC TORQUE IMBALANCE IN FEMALE FUTSAL PLAYERS

    Directory of Open Access Journals (Sweden)

    Ana Carolina de Mello Alves Rodrigues

    Full Text Available ABSTRACT Introduction: The specificity of sports training can lead to muscle specialization with a possible change in the natural hamstring/quadriceps torque ratio (HQ ratio, constituting a risk factor for muscle injury at the joint angles in which muscle imbalance may impair dynamic stability. Objective: The aim was to evaluate the torque distribution of the hamstrings and quadriceps and the HQ ratio throughout the range of motion in order to identify possible muscle imbalances at the knee of female futsal athletes. Methods: Nineteen amateur female futsal athletes had their dominant limb HQ ratio evaluated in a series of five maximum repetitions of flexion/extension of the knee at 180°/second in the total joint range of motion (30° to 80°. The peak flexor and extensor torque and the HQ ratio (% were compared each 5° of knee motion using one-way repeated measures ANOVA and Tukey’s post hoc test (p<0.05 to determine the joint angles that present muscular imbalance. Results: Quadriceps torque was higher than 50° to 60° of knee flexion, while hamstrings torque was higher than 55° to 65°. The HQ ratio presented lower values than 30° to 45° of knee flexion and four athletes presented values lower than 60%, which may represent a risk of injury. However, the HQ ratio calculated by the peak torque showed only one athlete with less than 60%. Conclusion: The HQ ratio analyzed throughout the knee range of motion allowed identifying muscle imbalance at specific joint angles in female futsal players.

  2. Geographical Labor Market Imbalances by Chiara Mussida and Francesco Pastore

    Directory of Open Access Journals (Sweden)

    Daniela PASNICU

    2016-04-01

    Full Text Available The book, entitled Geographical Labor Market Imbalances represents a collective volume of outstanding scientific papers concerning regional issues, which were presented at the XXVII National Conference of Labour Economics organized by AIEL (Italian Association of Labor Economics, the Department of Law of SecundaUniversità di Napoli and the Departments of Economic and Social Sciences of the UniversitàCattolica del SacroCuore (Piacenza, 27-28 September 2012.

  3. Decentralisation of GST Services and Vertical Imbalances in Pakistan

    OpenAIRE

    Iffat Ara; Muhammad Sabir

    2010-01-01

    In Pakistan, provincial finances largely hinge on federal transfers from the divisible pool via the National Finance Commission (NFC) Award. While provincial share in tax revenue is less than 5 percent, provincial share in expenditure is over 25 percent, indicating dependence on federal transfers and the extent of vertical fiscal imbalance. The sustainability of public services provided by the provinces requires enough “own” revenues rather than reliance on federal transfers and grants. The 7...

  4. Determination of allele frequencies in nine short tandem repeat loci ...

    African Journals Online (AJOL)

    SERVER

    2008-04-17

    Apr 17, 2008 ... the normal cellular process of replication of DNA molecules. ... probability of a certain genetic variant (alleles) occuring in ... have preservatives that hinder spoilage and are easily packaged .... Allele distribution at Nine STR.

  5. A new electrophoresis technique to separate microsatellite alleles ...

    African Journals Online (AJOL)

    A new electrophoresis technique to separate microsatellite alleles* ... African Journal of Biotechnology ... with the CEQTM 8000 Genetic Analysis System and ABI 3130xl DNA Sequencer easily separated products and determined allelic size, ...

  6. Allele specific expression and methylation in the bumblebee, Bombus terrestris

    Directory of Open Access Journals (Sweden)

    Zoë Lonsdale

    2017-09-01

    Full Text Available The social hymenoptera are emerging as models for epigenetics. DNA methylation, the addition of a methyl group, is a common epigenetic marker. In mammals and flowering plants methylation affects allele specific expression. There is contradictory evidence for the role of methylation on allele specific expression in social insects. The aim of this paper is to investigate allele specific expression and monoallelic methylation in the bumblebee, Bombus terrestris. We found nineteen genes that were both monoallelically methylated and monoallelically expressed in a single bee. Fourteen of these genes express the hypermethylated allele, while the other five express the hypomethylated allele. We also searched for allele specific expression in twenty-nine published RNA-seq libraries. We found 555 loci with allele-specific expression. We discuss our results with reference to the functional role of methylation in gene expression in insects and in the as yet unquantified role of genetic cis effects in insect allele specific methylation and expression.

  7. Comparative frequency and allelic distribution of ABO and Rh (D ...

    African Journals Online (AJOL)

    Gourab Dewan

    2015-02-18

    Feb 18, 2015 ... desh and having borders with India and Myanmar (Fig. 1). It is a hilly area with ..... calculated allelic frequencies for ABO/Rh systems previously. Therefore, allelic .... in backward caste population of Uttar Pradesh, India. Not Sci.

  8. Association mapping and favourable QTL alleles for fibre quality ...

    Indian Academy of Sciences (India)

    Cheng-Guang Dong

    A total of 201 markers were polymorphic and generated 394 allele loci, and 403 ... identified as containing favourable allele loci related to fibre quality traits. The identified .... environment. Field management followed respective local practices.

  9. Chest cage angle difference and rotation of main thoracic curve are independent risk factors of postoperative shoulder imbalance in surgically treated patients with adolescent idiopathic scoliosis.

    Science.gov (United States)

    Yagi, Mitsuru; Takemitsu, Masakazu; Machida, Masafumi

    2013-09-01

    Retrospective case series of surgically treated adolescent patients with scoliosis. To assess the prevalence and independent risk factors for postoperative shoulder imbalance in surgically treated adolescent patients with idiopathic scoliosis. Despite recent reports that have identified risk factors for postoperative shoulder imbalance, the relative risks remain unclear. A retrospective review of 85 consecutive patients treated with thoracic fusion with a minimum 2-year follow-up (mean, 3.1 yr) was conducted to investigate the patient radiographical measurements and demographics. Shoulder height difference (SHD) was measured as the graded height difference of the soft tissue shadows. A SHD more than 2 cm indicated an unbalanced shoulder. Patient demographics and radiographical data were studied to determine risk factors for postoperative SHD. The potential risk factors included age, sex, Risser sign, Cobb angle, flexibility, and apical vertebral rotation (AVR) of the main curve, upper-instrumented vertebra level, SHD, and clavicle chest cage angle difference (CCAD). Univariate and multivariate logistic regression analyses were performed to determine the independent risk factors for postoperative shoulder imbalance. Of the 85 patients, 21 patients presented postoperative shoulder imbalance. The univariate analysis indicated age, Risser sign, Cobb angle of the main curve, AVR of the main curve, and CCAD as risk factors, but the multivariate logistic regression analysis showed that only AVR of the main curve and CCAD were independent risk factors for postoperative shoulder imbalance (AVR, P = 0.04, odds ratio (OR): 3.54; CCAD, P = 0.01, OR: 5.10). Postoperative shoulder imbalance was observed in 25% of the surgically treated adolescent patients. The CCAD and AVR of the main thoracic curve were independent risk factors for postoperative shoulder imbalance in surgically treated patients with adolescent idiopathic scoliosis. The significant correlation between CCAD and

  10. Mass imbalances in EPANET water-quality simulations

    Science.gov (United States)

    Davis, Michael J.; Janke, Robert; Taxon, Thomas N.

    2018-04-01

    EPANET is widely employed to simulate water quality in water distribution systems. However, in general, the time-driven simulation approach used to determine concentrations of water-quality constituents provides accurate results only for short water-quality time steps. Overly long time steps can yield errors in concentration estimates and can result in situations in which constituent mass is not conserved. The use of a time step that is sufficiently short to avoid these problems may not always be feasible. The absence of EPANET errors or warnings does not ensure conservation of mass. This paper provides examples illustrating mass imbalances and explains how such imbalances can occur because of fundamental limitations in the water-quality routing algorithm used in EPANET. In general, these limitations cannot be overcome by the use of improved water-quality modeling practices. This paper also presents a preliminary event-driven approach that conserves mass with a water-quality time step that is as long as the hydraulic time step. Results obtained using the current approach converge, or tend to converge, toward those obtained using the preliminary event-driven approach as the water-quality time step decreases. Improving the water-quality routing algorithm used in EPANET could eliminate mass imbalances and related errors in estimated concentrations. The results presented in this paper should be of value to those who perform water-quality simulations using EPANET or use the results of such simulations, including utility managers and engineers.

  11. Transfer Learning for Class Imbalance Problems with Inadequate Data.

    Science.gov (United States)

    Al-Stouhi, Samir; Reddy, Chandan K

    2016-07-01

    A fundamental problem in data mining is to effectively build robust classifiers in the presence of skewed data distributions. Class imbalance classifiers are trained specifically for skewed distribution datasets. Existing methods assume an ample supply of training examples as a fundamental prerequisite for constructing an effective classifier. However, when sufficient data is not readily available, the development of a representative classification algorithm becomes even more difficult due to the unequal distribution between classes. We provide a unified framework that will potentially take advantage of auxiliary data using a transfer learning mechanism and simultaneously build a robust classifier to tackle this imbalance issue in the presence of few training samples in a particular target domain of interest. Transfer learning methods use auxiliary data to augment learning when training examples are not sufficient and in this paper we will develop a method that is optimized to simultaneously augment the training data and induce balance into skewed datasets. We propose a novel boosting based instance-transfer classifier with a label-dependent update mechanism that simultaneously compensates for class imbalance and incorporates samples from an auxiliary domain to improve classification. We provide theoretical and empirical validation of our method and apply to healthcare and text classification applications.

  12. On broadened definitions of instability for stars in thermal imbalance

    International Nuclear Information System (INIS)

    Simon, N.R.

    1977-01-01

    The classical theory of stability of dynamical systems is employed to demonstrate that traditional definitions of pulsational instability cannot be directly applied to stars in thermal imbalance. In particular, it is shown that, for the case of thermal imbalance, pulsational displacements and pulsational velocities have separate and distinct e-folding times. This being true, a broadened set of definitions becomes necessary, and such a set is formulated again with reference to the classical theory. In accordance with the new definitions, it is argued that the development of observable pulsations requires as a necessary condition infinitesimal instability of both absolute displacement and velocity. If either one is unstable without the other, this constitutes a class of (probably) non-pulsational instability, not previously treated in the astrophysical literature. Finally, it is shown that the stability of stars in thermal imbalance may be evaluated according to the present definitions by employing either of two existing theories - the energy approach due to Demaret (1974; 1975; 1976) or the small perturbation technique of Cox et al. (1973). (Auth.)

  13. TRPV6 alleles do not influence prostate cancer progression

    International Nuclear Information System (INIS)

    Kessler, Thorsten; Wissenbach, Ulrich; Grobholz, Rainer; Flockerzi, Veit

    2009-01-01

    The transient receptor potential, subfamily V, member 6 (TRPV6) is a Ca 2+ 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. 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. 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. Our results show that the frequencies of trpv6 alleles in healthy control individuals and prostate cancer patients

  14. TRPV6 alleles do not influence prostate cancer progression.

    Science.gov (United States)

    Kessler, Thorsten; Wissenbach, Ulrich; Grobholz, Rainer; Flockerzi, Veit

    2009-10-26

    The transient receptor potential, subfamily V, member 6 (TRPV6) is a Ca(2+) 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. 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. 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. Our results show that the frequencies of trpv6 alleles in healthy control individuals and prostate cancer patients

  15. 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

  16. 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.

  17. 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

  18. Directional Positive Selection on an Allele of Arbitrary Dominance

    OpenAIRE

    Teshima, Kosuke M.; Przeworski, Molly

    2006-01-01

    Most models of positive directional selection assume codominance of the beneficial allele. We examine the importance of this assumption by implementing a coalescent model of positive directional selection with arbitrary dominance. We find that, for a given mean fixation time, a beneficial allele has a much weaker effect on diversity at linked neutral sites when the allele is recessive.

  19. Energy-imbalance mechanism of domain wall motion induced by propagation spin waves in finite magnetic nanostripe

    International Nuclear Information System (INIS)

    Zhu, Jinrong; Han, Zhaoyan; Su, Yuanchang; Hu, Jingguo

    2014-01-01

    The mechanism of the domain wall (DW) motions induced by spin wave in finite magnetic nanostripe is studied by micromagnetic simulations. We find that the spin-wave induced DM motions are always accompanied by an energy imbalance between two sides of the DW. The DW motion can be attributed to the expansion of the low-energy-density area and the contraction of the high-energy-density area. The energy imbalance strongly depends on whether the spin wave passes through the DW or is reflected by the DW. In the area of the spin wave propagation, the energy density increases with the time. However, in the superposition area of the incident spin wave and the reflected spin wave, the energy density decreases with the increasing of the time. It shows that this energy imbalance can be controlled by tuning the frequency of the spin wave. Finally, the effect of the damping parameter value is discussed. - Highlights: • The mechanism of the spin-wave induced DW motions is studied. • The spin-wave induced DW motions and the energy imbalance mechanism are given. • The DW motion with the same direction to that of SW is explained. • The DW motion with the opposite direction to that of SW is explained

  20. 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

  1. Effort–reward imbalance at work and risk of depressive disorders

    DEFF Research Database (Denmark)

    Rugulies, Reiner; Aust, Birgit; H. Madsen, Ida E.

    2017-01-01

    Objective: The aim of this review was to determine whether employees exposed to effort–reward imbalance (ERI) at work have a higher risk of depressive disorders than non-exposed employees. Methods: We conducted a systematic review and meta-analysis of published prospective cohort studies examining...... the association of ERI at baseline with onset of depressive disorders at follow-up. The work was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and a detailed study protocol was registered before literature search commenced (Registration...

  2. Semiparametric Allelic Tests for Mapping Multiple Phenotypes: Binomial Regression and Mahalanobis Distance.

    Science.gov (United States)

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

    2015-12-01

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

  3. Haptoglobin genotyping of Vietnamese: global distribution of HP del, complete deletion allele of the HP gene.

    Science.gov (United States)

    Soejima, Mikiko; Agusa, Tetsuro; Iwata, Hisato; Fujihara, Junko; Kunito, Takashi; Takeshita, Haruo; Lan, Vi Thi Mai; Minh, Tu Binh; Takahashi, Shin; Trang, Pham Thi Kim; Viet, Pham Hung; Tanabe, Shinsuke; Koda, Yoshiro

    2015-01-01

    The haptoglobin (HP) gene deletion allele (HP(del)) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. The distribution of this allele has been explored by several groups including ours. Here, we studied the frequency of HP(del) in addition to the distribution of common HP genotypes in 293 Vietnamese. The HP(del) was encountered with the frequency of 0.020. The present result suggested that this deletion allele is restricted to East and Southeast Asians. Thus, this allele seems to be a potential ancestry informative marker for these populations. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  4. Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.

    Science.gov (United States)

    Leonenko, Ganna; Richards, Alexander L; Walters, James T; Pocklington, Andrew; Chambert, Kimberly; Al Eissa, Mariam M; Sharp, Sally I; O'Brien, Niamh L; Curtis, David; Bass, Nicholas J; McQuillin, Andrew; Hultman, Christina; Moran, Jennifer L; McCarroll, Steven A; Sklar, Pamela; Neale, Benjamin M; Holmans, Peter A; Owen, Michael J; Sullivan, Patrick F; O'Donovan, Michael C

    2017-10-01

    Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous studies have suggested that some of the risk of schizophrenia is attributable to uncommon alleles represented on Illumina exome arrays. Here, we present the largest study of exomic variation in schizophrenia to date, using samples from the United Kingdom and Sweden (10,011 schizophrenia cases and 13,791 controls). Single variants, genes, and gene sets were analyzed for association with schizophrenia. No single variant or gene reached genome-wide significance. Among candidate gene sets, we found significant enrichment for rare alleles (minor allele frequency [MAF] schizophrenia by excluding a role for uncommon exomic variants (0.01 ≤ MAF ≥ 0.001) that confer a relatively large effect (odds ratio [OR] > 4). We also show risk alleles within this frequency range exist, but confer smaller effects and should be identified by larger studies. © 2017 Wiley Periodicals, Inc.

  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

    2014-01-01

    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. PMID:25475095

  6. Coronal imbalance in degenerative lumbar scoliosis: Prevalence and influence on surgical decision-making for spinal osteotomy.

    Science.gov (United States)

    Bao, H; Yan, P; Qiu, Y; Liu, Z; Zhu, F

    2016-09-01

    There is a paucity of information on the pre-operative coronal imbalance in patients with degenerative lumbar scoliosis (DLS) and its influence on surgical outcomes. A total of 284 DLS patients were recruited into this study, among whom 69 patients were treated surgically and the remaining 215 patients conservatively Patients were classified based on the coronal balance distance (CBD): Type A, CBD 3 cm and C7 Plumb Line (C7PL) shifted to the concave side of the curve; Type C, CBD > 3 cm and C7PL shifted to the convex side. A total of 99 of the 284 (34.8%) patient presented with a pre-operative coronal imbalance (mean CBD: 48.5, standard deviation 18.7 mm). More patients with a Type B malalignment were observed than with a Type C malalignment (62 versus 37). A total of 21 pf the 69 (30.4%) surgically treated patients had a post-operative coronal imbalance, which was found to be more prevalent in Type C patients (p imbalance following posterior osteotomy. Cite this article: Bone Joint J 2016;98-B:1227-33. ©2016 The British Editorial Society of Bone & Joint Surgery.

  7. 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.

  8. What is the optimal cutoff value of the axis-line-angle technique for evaluating trunk imbalance in coronal plane?

    Science.gov (United States)

    Zhang, Rui-Fang; Fu, Yu-Chuan; Lu, Yi; Zhang, Xiao-Xia; Hu, Yu-Min; Zhou, Yong-Jin; Tian, Nai-Feng; He, Jia-Wei; Yan, Zhi-Han

    2017-02-01

    Accurately evaluating the extent of trunk imbalance in the coronal plane is significant for patients before and after treatment. We preliminarily practiced a new method, axis-line-angle technique (ALAT), for evaluating coronal trunk imbalance with excellent intra-observer and interobserver reliability. Radiologists and surgeons were encouraged to use this method in clinical practice. However, the optimal cutoff value of the ALAT for determination of the extent of coronal trunk imbalance has not been calculated up to now. The purpose of this study was to identify the cutoff value of the ALAT that best predicts a positive measurement point to assess coronal balance or imbalance. A retrospective study at a university affiliated hospital was carried out. A total of 130 patients with C7-central sacral vertical line (CSVL) >0 mm and aged 10-18 years were recruited in this study from September 2013 to December 2014. Data were analyzed to determine the optimal cutoff value of the ALAT measurement. The C7-CSVL and ALAT measurements were conducted respectively twice on plain film within a 2-week interval by two radiologists. The optimal cutoff value of the ALAT was analyzed via receiver operating characteristic (ROC) curve. Comparison variables were performed with chi-square test between the C7-CSVL and ALAT measurements for evaluating trunk imbalance. Kappa agreement coefficient method was used to test the intra-observer and interobserver agreement of C7-CSVL and ALAT. The ROC curve area for the ALAT was 0.82 (95% confidence interval: 0.753-0.894, pimbalance (p>.05). Intra-observer agreement values for the C7-CSVL measurements by observers 1 and 2 were 0.79 and 0.91 (pimbalance in the coronal plane with a high level of intra-observer and interobserver agreement, which suggests that the ALAT is suitable for clinical use. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Gender power imbalance on women's capacity to negotiate self-protection against HIV/AIDS in Botswana and South Africa.

    Science.gov (United States)

    Langen, Tabitha T

    2005-09-01

    Gender power imbalance, which translates into a power imbalance in sexual interactions, is increasingly being recognized as a factor in fueling the spread of HIV/AIDS by increasing the number of unsafe sexual encounters. To examine the influence of gender power imbalance and other factors on women's capacity to negotiate self protection against HIV infection; as well as men's response to the suggested condom use. Drawing on data gathered from 2658 women aged 18-49 years in a cross-sectional survey in Kwa Zulu Natal Province of South Africa and Botswana, the study used descriptive statistics and logistic regression to reveal a number of gender related factors that significantly affect women's ability to protect themselves against HIV infection. Gender power imbalance significantly affects women's ability to suggest condom use to their partners. The study showed that it is women with partners 10 or more years older than them, abused women, and those economically dependent on their partners who are less likely to suggest condom use to their partners. Gender power imbalance also influences men's inclination towards refusing to use the suggested condom. The study showed that men are more likely to refuse to use the condom when the age difference between them and their female partners is wide, if they are in a married relationship, and where there is no communication about HIV/AIDS between them and their partners. What is more disturbing is the finding that it is men with multiple partners who are significantly more likely to refuse to use the condom. Across all levels of society, there is a need to see a social paradigm shift that transforms relationships between women and men, from the one of inequality and dominance as is the case in patriarchal societies, to equality, respect and consideration for one another.

  10. The link between some alleles on human leukocyte antigen system and autism in children.

    Science.gov (United States)

    Mostafa, Gehan A; Shehab, Abeer A; Al-Ayadhi, Laila Y

    2013-02-15

    The reason behind the initiation of autoimmunity to brain in some patients with autism is not well understood. There is an association between some autoimmune disorders and specific alleles of human leukocyte antigen (HLA) system. Thus, we examined the frequency of some HLA-DRB1 alleles in 100 autistic children and 100 healthy matched-children by differential hybridization with sequence-specific oligonucleotide probes. The risk of association between acquisition or absence of these alleles and autism and also a history of autoimmune diseases in autistic relatives was studied. Autistic children had significantly higher frequency of HLA-DRB1*11 allele than controls (P<0.001). In contrast, autistic children had significantly lower frequency of HLA-DRB1*03 allele than controls (P<0.001). Acquisition of HLA-DRB1*011 and absence of HLA-DRB1*3 had significant risk for association with autism (odds ratio: 3.21 and 0.17, respectively; 95% CI: 1.65-6.31 and 0.06-0.45, respectively). HLA-DRB1*11 had a significant risk for association with a family history of autoimmunity in autistic children (odds ratio: 5.67; 95% CI: 2.07-16.3). In conclusions, the link of some HLA alleles to autism and to family history of autoimmunity indicates the possible contributing role of these alleles to autoimmunity in some autistic children. Despite a relatively small sample size, we are the first to report a probable protective association of HLA-DRB1*03 allele with autism. It warrants a replication study of a larger sample to validate the HLA-DRB1 genetic association with autism. This is important to determine whether therapeutic modulations of the immune function are legitimate avenues for novel therapy in selected cases of autism. Copyright © 2012 Elsevier B.V. All rights reserved.

  11. Electrolytes imbalance in saltwater near-drowning victims in the Gulf of Thailand.

    Science.gov (United States)

    Yongsiri, Somchai; Dinchuthai, Pakapan; Thammakumpee, Jiranuch; Prongnamchai, Suriya; Chueansuwan, Rachaneeporn; Tangjaturonrasme, Siriporn; Chaivanit, Pechngam

    2013-10-01

    Near-drowning victims in saltwater are expected to have multiple electrolytes imbalance that affected treatment outcome. There are limited data about these parameters in Thailand to guide the treatment plan. To study the characteristic of electrolytes imbalance in saltwater near-drowning victims in the Gulf of Thailand. Retrospective analytic study of 39 medical records of near-drowning patients admitted to Burapha University Hospital between 2000 and 2010. Characteristics of the patients and serum electrolytes were analyzed by SPSS version 19 for windows. The study included 23 male, 16 female patients. Average age was 14.46 +/- 11.15 years and 19/39 (48.72%) patients were aged 10 or less. The following electrolytes imbalance were identified, hypokalemia 8/39 (20.51%), hypernatremia 12/39 (30.77%), hyperchloremia 15/39 (38.46%), high anion gap 23/39 (58.97%), and hypobicarbonatemia 28/39 (71.79%). Seven out of eight patients in the hypokalemia group were in the high anion gap group. Mean SpO2 in the patients who had high anion gap was significantly lower than those who had normal anion gap (87.06 +/- 17.68% vs. 95.8 +/- 5.94% p = 0.031) without difference in systolic blood pressure (112.59 +/- 14.63 vs. 105.67 +/- 13.98 p = 0.159). Those who were hypotensive significantly had lower bicarbonate (17.00 +/- 3.51 vs. 20.59 +/- 3.81 p = 0.038) and higher anion gap (19.29 +/- 1.799 vs. 16.25 +/- 6.25 p = 0.025) than normotensive patients. Hypobicarbonatemia, high anion gap, hypernatremia, and hypokalemia were common in saltwater near-drowning patients in the Gulf of Thailand. The cause of high anion gap was probably due to hypoxia and hypotension.

  12. 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

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

    International Nuclear Information System (INIS)

    Tipu, H.N.; Ahmed, T.A.; Bashir, M.M.

    2010-01-01

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

  14. Improvements to a Markerless Allelic Exchange System for Bacillus anthracis.

    Directory of Open Access Journals (Sweden)

    Roger D Plaut

    Full Text Available A system was previously developed for conducting I-SceI-mediated allelic exchange in Bacillus anthracis. In this system, recombinational loss of a chromosomally-integrated allelic exchange vector is stimulated by creation of a double-stranded break within the vector by the homing endonuclease I-SceI. Although this system is reasonably efficient and represents an improvement in the tools available for allelic exchange in B. anthracis, researchers are nonetheless required to "pick and patch" colonies in order to identify candidate "exchangeants." In the present study, a number of improvements have been made to this system: 1 an improved I-SceI-producing plasmid includes oriT so that both plasmids can now be introduced by conjugation, thus avoiding the need for preparing electro-competent cells of each integration intermediate; 2 antibiotic markers have been changed to allow the use of the system in select agent strains; and 3 both plasmids have been marked with fluorescent proteins, allowing the visualization of plasmid segregation on a plate and obviating the need for "picking and patching." These modifications have made the process easier, faster, and more efficient, allowing for parallel construction of larger numbers of mutant strains. Using this improved system, the genes encoding the tripartite anthrax toxin were deleted singly and in combination from plasmid pXO1 of Sterne strain 34F2. In the course of this study, we determined that DNA transfer to B. anthracis could be accomplished by conjugation directly from a methylation-competent E. coli strain.

  15. The Imbalance of Water in Nature as System

    Science.gov (United States)

    Kontar, V. A.; Imbalance of Water in Nature

    2011-12-01

    Consider some of the water-containing area. Choose some the factors which we consider important to the system. The system contains a system factors, and the external environment these factors doesn't contain. Between the system and the external environment must be some flows into the system, out of the system and along the border. If the flows into and out of the system are not equal, that means within the system exactly something is happening. But the equality of the flows into and out of the system does not mean that within the system nothing happens. It is extremely important to determine the time factor. Everything has a beginning and an end. Each factor has its own life from 0 to 1, as well as their watches. Thus that within the system and the environment at the same time are going a lot of the watches and each watch is going by their own pace. System-wide time is needed to describe the system as a whole and to be able to re-measure the individual time of each factor. It is also very important to identify each factor of the system, environment and border. Definition of each particular factor depends on the level of our knowledge. There are many examples where one factor was divided into several, and vice versa, several factors have combined in one or even disappear as a non-existent. Each factor is determined by specific people for reasons of convenience, the specific of tasks, the possible accuracy of measurement, available resources, etc. The development of the science and applications are going to the direction of the clearer separation of factors and the precision of their measurements. Now is extremely important to more clearly define the boundaries of systems, factors and the allowed accuracy of their measurements. With such a revision, many previously balanced situations become to the imbalance. There are many specific details for each case, but they do not change the basic approach described above. If not clearly resolved the questions listed above so

  16. 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.

  17. Relaxation of the chiral imbalance and the generation of magnetic fields in magnetars

    Energy Technology Data Exchange (ETDEWEB)

    Dvornikov, M. S., E-mail: maxdvo@izmiran.ru [Ionosphere and Radiowave Propagation (IZMIRAN), Pushkov Institute of Terrestrial Magnetism (Russian Federation)

    2016-12-15

    The model for the generation of magnetic fields in a neutron star, based on the magnetic field instability caused by the electroweak interaction between electrons and nucleons, is developed. Using the methods of the quantum field theory, the helicity flip rate of electrons in their scattering off protons in dense matter of a neutron star is calculated. The influence of the electroweak interaction between electrons and background nucleons on the process of the helicity flip is studied. The kinetic equation for the evolution of the chiral imbalance is derived. The obtained results are applied for the description of the magnetic fields evolution in magnetars.

  18. Chromosomal imbalances in four new uterine cervix carcinoma derived cell lines

    International Nuclear Information System (INIS)

    Hidalgo, Alfredo; Monroy, Alberto; Arana, Rosa Ma; Taja, Lucía; Vázquez, Guelaguetza; Salcedo, Mauricio

    2003-01-01

    Uterine cervix carcinoma is the second most common female malignancy worldwide and a major health problem in Mexico, representing the primary cause of death among the Mexican female population. High risk human papillomavirus (HPV) infection is considered to be the most important risk factor for the development of this tumor and cervical carcinoma derived cell lines are very useful models for the study of viral carcinogenesis. Comparative Genomic Hybridization (CGH) experiments have detected a specific pattern of chromosomal imbalances during cervical cancer progression, indicating chromosomal regions that might contain genes that are important for cervical transformation. We performed HPV detection and CGH analysis in order to initiate the genomic characterization of four recently established cervical carcinoma derived cell lines from Mexican patients. All the cell lines were HPV18 positive. The most prevalent imbalances in the cell lines were gains in chromosomes 1q23-q32, 3q11.2-q13.1, 3q22-q26.1, 5p15.1-p11.2, this alteration present as a high copy number amplification in three of the cell lines, 7p15-p13, 7q21, 7q31, 11q21, and 12q12, and losses in 2q35-qter, 4p16, 6q26-qter, 9q34 and 19q13.2-qter. Analysis of our present findings and previously reported data suggest that gains at 1q31-q32 and 7p13-p14, as well as losses at 6q26-q27 are alterations that might be unique for HPV18 positive cases. These chromosomal regions, as well as regions with high copy number amplifications, coincide with known fragile sites and known HPV integration sites. The general pattern of chromosomal imbalances detected in the cells resembled that found in invasive cervical tumors, suggesting that the cells represent good models for the study of cervical carcinoma

  19. A comparison of traditional and quantitative analysis of acid-base imbalances in hypoalbuminemic dogs.

    Science.gov (United States)

    Torrente, Carlos; Manzanilla, Edgar G; de Gopegui, Rafael Ruiz

    2014-01-01

    To compare the traditional (HH) and quantitative approaches used for the evaluation of the acid-base balance in hypoalbuminemic dogs. Prospective observational study. ICU of a veterinary teaching hospital. One hundred and five client-owned dogs. Jugular venous blood samples were collected from each patient on admission to determine: total plasma protein (TP), albumin (Alb), blood urea nitrogen (BUN), glucose (Glu), hematocrit (HCT), Na(+) , Cl(-) , K(+) , phosphate (Pi ), pH, PvCO2, bicarbonate (HCO3 (-) ), anion gap (AG), adjusted anion gap for albumin (AGalb ) or phosphate (AGalb-phos ), standardized base excess (SBE), strong ion difference (SID), concentration of nonvolatile weak buffers (Atot ), and strong ion gap (SIG). Patients were divided in 2 groups according to the severity of the hypoalbuminemia: mild (Alb = 21-25 g/L) and severe (Alb ≤20 g/L). All parameters were compared among groups. Patients with severe hypoalbuminemia showed significant decrease in TP (P = 0.011), Atot (P = 0.050), and a significant increase in adjusted AG (P = 0.048) and the magnitude of SIG (P = 0.011) compared to animals with mild hypoalbuminemia. According to the HH approach, the most frequent imbalances were simple disorders (51.4%), primarily metabolic acidosis (84.7%) associated with a high AG acidosis. However, when using the quantitative method, 58.1% of patients had complex disorders, with SIG acidosis (74.3%) and Atot alkalosis (33.3%) as the most frequent acid-base imbalances. Agreement between methods only matched in 32 cases (kappa acid-base balance was poor and many imbalances detected using the quantitative approach were missed using the HH approach. Further studies are necessary to confirm the clinical utility of using the quantitative approach in the decision-making process of the severely ill hypoalbuminemic patients. © Veterinary Emergency and Critical Care Society 2014.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. Consequences for diversity when animals are prioritized for conservation of the whole genome or of one specific allele

    NARCIS (Netherlands)

    Engelsma, K.A.; Veerkamp, R.F.; Calus, M.P.L.; Windig, J.J.

    2014-01-01

    When animals are selected for one specific allele, for example for inclusion in a gene bank, this may result in the loss of diversity in other parts of the genome. The aim of this study was to quantify the risk of losing diversity across the genome when targeting a single allele for conservation

  2. Calcium - Magnesium imbalance implicated in benign prostatic hyperplasia and restoration by a phytotherapeutic drug - Croton membranaceus Müll.Arg.

    Science.gov (United States)

    Asare, George Awuku; Ngala, Robert A; Afriyie, Daniel; Adjei, Samuel; Nyarko, Adriana; Anang-Quartey, Yvonne; Asiedu, Bernice; Doku, Derek; Amoah, Brodrick Y; Bentum, Kennedy; Musah, Iddi; Mossanda, Kensese

    2017-03-11

    Calcium (Ca)- magnesium (Mg) imbalance is implicated in prostate cancer. Ca/Mg ratio increases or decreases with proliferation or apoptosis, respectively. The study examined whether this Ca/Mg imbalance exists in BPH patients and the effect of a phytotherapeutic drug on the Ca/Mg ratio. Thirty (30) BPH patients who used the ethanolic root extract of Croton membranaceus (60 mg/day) for 3 months were examined for serum Ca, Mg, phosphate, parathyroid hormone (PTH), vitamin D, prostate specific antigen (PSA) levels and renal function tests (RFT) before (BT) and after treatment (AT) alongside thirty (30) controls. Twenty (20) trace element including Mg and Ca were determined in the drug by neutron activation analysis (NAA). RFT, PTH and vitamin D for BT, AT and controls (C) were normal. Mean PSA was 1.0 ± 0.64 (C), 27.9 ± 19.0 (BT) and 16.2 ± 11.8 ng/mL (AT) (p = 0.002). Mg, Ca/Mg ratio BT, AT and control were significantly different (p = 0.0001, respectively). After treatment, Mg and Ca/Mg ratio were not different from controls. The prevalence of Ca/Mg imbalance was 80% (BT), 13.3% (AT) and 3.3% (control group). Ca/Mg ratio imbalance is associated with BPH. This has previously not been demonstrated. The imbalance was significantly corrected after treatment with the phytotherapeutic drug.

  3. Age-Related Imbalance Is Associated With Slower Walking Speed: An Analysis From the National Health and Nutrition Examination Survey.

    Science.gov (United States)

    Xie, Yanjun J; Liu, Elizabeth Y; Anson, Eric R; Agrawal, Yuri

    Walking speed is an important dimension of gait function and is known to decline with age. Gait function is a process of dynamic balance and motor control that relies on multiple sensory inputs (eg, visual, proprioceptive, and vestibular) and motor outputs. These sensory and motor physiologic systems also play a role in static postural control, which has been shown to decline with age. In this study, we evaluated whether imbalance that occurs as part of healthy aging is associated with slower walking speed in a nationally representative sample of older adults. We performed a cross-sectional analysis of the previously collected 1999 to 2002 National Health and Nutrition Examination Survey (NHANES) data to evaluate whether age-related imbalance is associated with slower walking speed in older adults aged 50 to 85 years (n = 2116). Balance was assessed on a pass/fail basis during a challenging postural task-condition 4 of the modified Romberg Test-and walking speed was determined using a 20-ft (6.10 m) timed walk. Multivariable linear regression was used to evaluate the association between imbalance and walking speed, adjusting for demographic and health-related covariates. A structural equation model was developed to estimate the extent to which imbalance mediates the association between age and slower walking speed. In the unadjusted regression model, inability to perform the NHANES balance task was significantly associated with 0.10 m/s slower walking speed (95% confidence interval: -0.13 to -0.07; P imbalance mediates 12.2% of the association between age and slower walking speed in older adults. In a nationally representative sample, age-related balance limitation was associated with slower walking speed. Balance impairment may lead to walking speed declines. In addition, reduced static postural control and dynamic walking speed that occur with aging may share common etiologic origins, including the decline in visual, proprioceptive, and vestibular sensory and

  4. Effectiveness of Vestibular Rehabilitation Therapy for Treatment of Concussed Adolescents With Persistent Symptoms of Dizziness and Imbalance.

    Science.gov (United States)

    Park, Kyoungyoun; Ksiazek, Thomas; Olson, Bernadette

    2018-05-04

    Adolescents who suffer sport concussion typically respond to a prescription of cognitive and physical rest in the acute phases of healing; however, some adolescents do not respond to rest alone. Dizziness, unsteadiness, and imbalance are impairments, which may linger longer than 30 days, leading to a diagnosis of postconcussion syndrome (PCS). Vestibular assessment and therapy may benefit adolescents suffering from these persistent symptoms. Does vestibular rehabilitation therapy (VRT) rather than continued prescription of rest (cognitive and physical) reduce recovery time and persistent symptoms of dizziness, unsteadiness, and imbalance in adolescents (12-18 y) who suffer PCS following a sports-related concussion? Summary of Key Findings: All 4 studies selected included adolescents suffering from PCS, specifically continued dizziness, unsteadiness, and imbalance. VRT was an effective intervention for this population. Adolescents presenting with this cluster of symptoms may also demonstrate verbal and visual memory loss linked to changes in the vestibular system postconcussion. Improved screening tools can help better understand vestibular system changes, identify adolescents who may benefit from VRT sooner, and decrease long-term impairments. Clinical Bottom Line: Moderate evidence supports that adolescents who suffer from persistent symptoms of dizziness, unsteadiness, and imbalance following sport concussion should be evaluated more specifically and earlier for vestibular dysfunction and can benefit from participation in individualized VRT. Early evaluation and treatment may result in a reduction of time lost from sport as well as a return to their premorbid condition. For these adolescents, VRT may be more beneficial than continued physical and cognitive rest when an adolescent's symptoms last longer than 30 days. Strength of Recommendation: Grade B evidence exists to support that VRT is more effective than continued cognitive and physical rest in reducing

  5. Null alleles and sequence variations at primer binding sites of STR loci within multiplex typing systems.

    Science.gov (United States)

    Yao, Yining; Yang, Qinrui; Shao, Chengchen; Liu, Baonian; Zhou, Yuxiang; Xu, Hongmei; Zhou, Yueqin; Tang, Qiqun; Xie, Jianhui

    2018-01-01

    Rare variants are widely observed in human genome and sequence variations at primer binding sites might impair the process of PCR amplification resulting in dropouts of alleles, named as null alleles. In this study, 5 cases from routine paternity testing using PowerPlex ® 21 System for STR genotyping were considered to harbor null alleles at TH01, FGA, D5S818, D8S1179, and D16S539, respectively. The dropout of alleles was confirmed by using alternative commercial kits AGCU Expressmarker 22 PCR amplification kit and AmpFℓSTR ® . Identifiler ® Plus Kit, and sequencing results revealed a single base variation at the primer binding site of each STR locus. Results from the collection of previous reports show that null alleles at D5S818 were frequently observed in population detected by two PowerPlex ® typing systems and null alleles at D19S433 were mostly observed in Japanese population detected by two AmpFℓSTR™ typing systems. Furthermore, the most popular mutation type appeared the transition from C to T with G to A, which might have a potential relationship with DNA methylation. Altogether, these results can provide helpful information in forensic practice to the elimination of genotyping discrepancy and the development of primer sets. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Interlaboratory comparison of fig (Ficus carica L. microsatellite genotyping data and determination of reference alleles

    Directory of Open Access Journals (Sweden)

    Matjaž HLADNIK

    2018-04-01

    Full Text Available Microsatellites have been identified as the marker of choice in plant genotyping projects. However, due to length discrepancies obtained between different laboratories for the same allele, interlaboratory comparison of fingerprinting results is often a difficult task. The objectives of this study were to compare genotyping results of two laboratories, to evaluate genetic parameters of microsatellite markers and to determine reference allele sizes for fig cultivars from the Istrian peninsula.Genotyping results of ninety fig (Ficus carica L. accessions were comparable between the laboratories despite differences observed when comparing electropherograms of different capillary electrophoresis systems. Differences in lengths of the same alleles were detected due to different PCR methods and laboratory equipment, but the distances between alleles of the same locus were preserved. However, locus FSYC01 exhibited one allele dropout which led to misidentification of 28 heterozygotes as homozygote individuals suggesting this locus as unreliable. Allele dropout was assigned to the tail PCR technology or to a touchdown PCR protocol.Genotypes of twenty-four reference cultivars from the Istrian peninsula were confirmed by both laboratories. These results will contribute to the usage of markers with greater reliability, discrimination power and consequently, to more reliable standardization with other fig genotyping projects.

  7. HLA-DR alleles among Pakistani patients of coeliac disease

    International Nuclear Information System (INIS)

    Saleem, N.; Ahmed, T.A.; Bashir, M.; Ali, S.; Iqbal, M.

    2013-01-01

    Objectives: To investigate whether certain DR alleles might also contribute to the genetic susceptibility among Coeliac disease patients in Pakistan. Methods: The case-control study was conducted at the Military Hospital, Rawalpindi, from October 2011 to January 2012, and analysed 25 children diagnosed to have coeliac disease as per the criteria set by the European Society of Paediatric Gastroenterology and Nutrition, which included histopathological alterations in duodenal biopsies, clinical response to gluten withdrawal, and presence of anti-endomyseal antibodies. Patients were compared with a group of 150 healthy subjects. Dioxyribonucleic acid was extracted from peripheral blood collected in ethylenediaminetetraacetic acid.K3. Human leukocyte antigen DRB1 typing was carried out on allele level (DRB1*01 - DRB1*16) using sequence specific primers. Human leukocyte antigen type was determined by agarose gel electrophoresis and results were recorded. Phenotype frequency of various alleles among the patient group and the control group was calculated by direct counting, and significance of their association was determined by Fisher Exact Test. Results: A total of 11 (44%) female paediatric coeliac patients in age range 1-9 (mean 7.2+-4.8 years) and 14 (56%) male paediatric patients in the age range 6-14 (mean 8.6+-5.1 years) were genotyped for HLA-DRB1 loci. A statistically significant positive association of the disease with HLA-DRB1*03 (n=23; 92% versus n=31; 21% in controls, p <0.01) was observed. Conclusion: HLA-DRB1*03 is associated with increased risk of developing coeliac disease. (author)

  8. 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.

  9. Framework for Interpretation of Trypsin–antitrypsin Imbalance and Genetic Heterogeneity in Pancreatitis

    Science.gov (United States)

    Lin, Kun; Gao, Feng; Chen, Qingquan; Liu, Qicai; Chen, Shu

    2015-01-01

    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. PMID:26228362

  10. Class imbalance in unsupervised change detection - A diagnostic analysis from urban remote sensing

    Science.gov (United States)

    Leichtle, Tobias; Geiß, Christian; Lakes, Tobia; Taubenböck, Hannes

    2017-08-01

    Automatic monitoring of changes on the Earth's surface is an intrinsic capability and simultaneously a persistent methodological challenge in remote sensing, especially regarding imagery with very-high spatial resolution (VHR) and complex urban environments. In order to enable a high level of automatization, the change detection problem is solved in an unsupervised way to alleviate efforts associated with collection of properly encoded prior knowledge. In this context, this paper systematically investigates the nature and effects of class distribution and class imbalance in an unsupervised binary change detection application based on VHR imagery over urban areas. For this purpose, a diagnostic framework for sensitivity analysis of a large range of possible degrees of class imbalance is presented, which is of particular importance with respect to unsupervised approaches where the content of images and thus the occurrence and the distribution of classes are generally unknown a priori. Furthermore, this framework can serve as a general technique to evaluate model transferability in any two-class classification problem. The applied change detection approach is based on object-based difference features calculated from VHR imagery and subsequent unsupervised two-class clustering using k-means, genetic k-means and self-organizing map (SOM) clustering. The results from two test sites with different structural characteristics of the built environment demonstrated that classification performance is generally worse in imbalanced class distribution settings while best results were reached in balanced or close to balanced situations. Regarding suitable accuracy measures for evaluating model performance in imbalanced settings, this study revealed that the Kappa statistics show significant response to class distribution while the true skill statistic was widely insensitive to imbalanced classes. In general, the genetic k-means clustering algorithm achieved the most robust results

  11. Characterization of a Weak Allele of Zebrafish cloche Mutant

    Science.gov (United States)

    Ma, Ning; Huang, Zhibin; Chen, Xiaohui; He, Fei; Wang, Kun; Liu, Wei; Zhao, Linfeng; Xu, Xiangmin; Liao, Wangjun; Ruan, Hua; Luo, Shenqiu; Zhang, Wenqing

    2011-01-01

    Hematopoiesis is a complicated and dynamic process about which the molecular mechanisms remain poorly understood. Danio rerio (zebrafish) is an excellent vertebrate system for studying hematopoiesis and developmental mechanisms. In the previous study, we isolated and identified a cloche 172 (clo 172) mutant, a novel allele compared to the original cloche (clo) mutant, through using complementation test and initial mapping. Here, according to whole mount in-situ hybridization, we report that the endothelial cells in clo 172 mutant embryos, although initially developed, failed to form the functional vascular system eventually. In addition, further characterization indicates that the clo 172 mutant exhibited weaker defects instead of completely lost in primitive erythroid cells and definitive hematopoietic cells compared with the clo s5 mutant. In contrast, primitive myeloid cells were totally lost in clo 172 mutant. Furthermore, these reappeared definitive myeloid cells were demonstrated to initiate from the remaining hematopoietic stem cells (HSCs) in clo 172 mutant, confirmed by the dramatic decrease of lyc in clo 172 runx1w84x double mutant. Collectively, the clo 172 mutant is a weak allele compared to the clo s5 mutant, therefore providing a model for studying the early development of hematopoietic and vascular system, as well as an opportunity to further understand the function of the cloche gene. PMID:22132109

  12. Doctrinal Imbalance: A Study of Swedish Army Doctrine

    Science.gov (United States)

    2014-06-13

    that the cost of continuing the attack is too high and/or will be unsuccessful. Many countries have maintained their sovereignty without the use of...MBTs travel side by side with an IVF on each flank. This tactic is used in order to achieve frontal fire superiority and at the same time protect...

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

    Directory of Open Access Journals (Sweden)

    Mayumi Yamato

    2016-08-01

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

  14. Gender equity imbalance in electrocardiology: A call to action.

    Science.gov (United States)

    Clarke Whalen, E; Xu, G; Cygankiewicz, I; Bacharova, L; Zareba, W; Steinberg, J S; Tereshchenko, L G; Baranchuk, A

    Despite the increasing number of women entering the medical profession, senior positions and academic productivity in many fields of medicine remain to be men dominated. We explored gender equity in electrocardiology as perceived by recent academic productivity and also active participation (presidencies and board constituents) in both the International Society of Electrocardiology (ISE) and the International Society for Holter and Noninvasive Electrocardiology (ISHNE). Academic productivity was measured by authorship (first and senior) in the Journal of Electrocardiology (JECG) and the Annals of Noninvasive Electrocardiology (ANE) in 2015. The percentage of women ISE and ISHNE Presidents was 5.6% and 0%, respectively. Current women board constituents for each society was 12.1% for ISE, and 9.4% for ISHNE. JECG articles published in 2015 had considerably less women compared to men for both senior (16.3%) and first (25.3%) authorship. ANE articles published in 2015 followed the same trends in gender, having less women compared to men for both senior (9.4%) and first (19.3%) authorship. There is a gender equity imbalance in the field of Electrocardiology. Identifying a gender imbalance is important for understanding reasons behind these trends, and may also help improve gender equity in Electrocardiology. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Mass imbalances in EPANET water-quality simulations

    Energy Technology Data Exchange (ETDEWEB)

    Davis, Michael J.; Janke, Robert; Taxon, Thomas N.

    2018-04-06

    EPANET is widely employed to simulate water quality in water distribution systems. However, the time-driven simulation approach used to determine concentrations of water-quality constituents provides accurate results, in general, only for small water-quality time steps; use of an adequately short time step may not be feasible. Overly long time steps can yield errors in concentrations and result in situations in which constituent mass is not conserved. Mass may not be conserved even when EPANET gives no errors or warnings. This paper explains how such imbalances can occur and provides examples of such cases; it also presents a preliminary event-driven approach that conserves mass with a water-quality time step that is as long as the hydraulic time step. Results obtained using the current approach converge, or tend to converge, to those obtained using the new approach as the water-quality time step decreases. Improving the water-quality routing algorithm used in EPANET could eliminate mass imbalances and related errors in estimated concentrations.

  16. Variations of cervical lordosis and head alignment after pedicle subtraction osteotomy surgery for sagittal imbalance.

    Science.gov (United States)

    Cecchinato, R; Langella, F; Bassani, R; Sansone, V; Lamartina, C; Berjano, P

    2014-10-01

    The variations of the cervical lordosis after correction of sagittal imbalance have been poorly studied. The aim of our study is to verify whether the cervical lordosis changes after surgery for sagittal imbalance. Thirty-nine patients were included in the study. Cervical, thoracic and lumbar spine, pelvic and lower-limb sagittal parameters were recorded. The cranial alignment was measured by the newly described Cranial Slope. The global cervical kyphosis (preop -43°, postop -31.5°) and the upper (preop -24.1°, postop -20.2°) and lower cervical kyphosis (preop -18.1°, postop -9.2°) were significantly reduced after surgical realignment of the trunk. A positive linear correlation was observed between the changes in T1 slope and the lower cervical lordosis, and between T1 slope and the global cervical alignment. The cervical lordosis is reduced by surgical correction of malalignment of the trunk, suggesting an adaptive role to maintain the head's neutral position.

  17. Role of brain-derived neurotrophic factor in the excitatory-inhibitory imbalance during the critical period of postnatal respiratory development in the rat.

    Science.gov (United States)

    Gao, Xiu-Ping; Zhang, Hanmeng; Wong-Riley, Margaret

    2015-11-01

    The critical period of respiratory development in rats is a narrow window toward the end of the second postnatal week (P12-13), when abrupt neurochemical, electrophysiological, and ventilatory changes occur, when inhibition dominates over excitation, and when the animals' response to hypoxia is the weakest. The goal of this study was to further test our hypothesis that a major mechanism underlying the synaptic imbalance during the critical period is a reduced expression of brain-derived neurotrophic factor (BDNF) and its TrkB receptors. Our aims were to determine (1) that the inhibitory dominance observed in hypoglossal motoneurons during the critical period was also demonstrable in a key respiratory chemosensor, NTSVL; (2) if in vivo application of a TrkB agonist, 7,8-DHF, would prevent, but a TrkB antagonist, ANA-12, would accentuate the synaptic imbalance; and (3) if hypoxia would also heighten the imbalance. Our results indicate that (1) the synaptic imbalance was evident in the NTSVL during the critical period; (2) intraperitoneal injections of 7,8-DHF prevented the synaptic imbalance during the critical period, whereas ANA-12 in vivo accentuated such an imbalance; and (3) acute hypoxia induced the weakest response in both the amplitude and frequency of sEPSCs during the critical period, but it increased the frequency of sIPSCs during the critical period. Thus, our findings are consistent with and strengthen our hypothesis that BDNF and TrkB play a significant role in inducing a synaptic imbalance during the critical period of respiratory development in the rat. © 2015 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society.

  18. Reliability of the xipho-pubic angle in patients with sagittal imbalance of the spine.

    Science.gov (United States)

    Langella, Francesco; Villafañe, Jorge H; Ismael, Maryem; Buric, Josip; Piazzola, Andrea; Lamartina, Claudio; Berjano, Pedro

    2018-04-01

    Proximal junctional kyphosis (PJK) is a frequent complication that compromises the outcomes of spinal surgery, especially for adult deformity. To the date no single risk factor or cause has been identified that explains its occurrence. The purpose of this study was to investigate the test-retest reliability of the radiologic measurements using xipho-pubic angle (XPA) for subjects undergoing surgery for sagittal misalignment of the spine. Retrospective observational cross-sectional study of prospectively collected data. Full-spine standing lateral radiographs of 50 patients who underwent surgery for fixed sagittal imbalance (preoperative and postoperative) were evaluated. Internal consistency, reproducibility, concurrent validity, and discriminative ability of the XPA. Two physicians measured XPA on the 100 randomly sorted and anonymized radiographs on two occasions, one week apart (test and retest conditions), were calculated for inter and intraobserver agreement. Test-retest reliability of XPA measurement was excellent for pre- (ICC=0.98; P=0.001) and post-surgical (ICC=0.86; P=0.001) radiographs of subjects with sagittal imbalance of the spine. XPA was able to discriminate between preoperative and postoperative radiographs F=17.924, Pimbalance for both raters. There were significant differences between pre- vs. postoperative XPA, pelvic tilt, lumbar lordosis and sagittal vertical axis values (all Pimbalance.

  19. 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 soccer players. PMID:26630271

  20. Allele Frequency - JSNP | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available nd 39 SNPs are assayed in three (POP_*) and two (RIKEN_japanese_*) panels, respectively. Derived from Flat f... assay (JBIC-allele and RIKEN_japanese_*), TaqMan assay (RIKEN-allele) or direct sequencing / allelic discri...unteers under informed consent RIKEN_japanese_normal_weight - 711 unrelated japanese normal weight volunteer...s ( body mass index RIKEN_japanese_obese - 796 unrelated japanese obese patients

  1. 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.

  2. Itinerant ferromagnetism in an atomic Fermi gas: Influence of population imbalance

    International Nuclear Information System (INIS)

    Conduit, G. J.; Simons, B. D.

    2009-01-01

    We investigate ferromagnetic ordering in an itinerant ultracold atomic Fermi gas with repulsive interactions and population imbalance. In a spatially uniform system, we show that at zero temperature the transition to the itinerant magnetic phase transforms from first to second order with increasing population imbalance. Drawing on these results, we elucidate the phases present in a trapped geometry, finding three characteristic types of behavior with changing population imbalance. Finally, we outline the potential experimental implications of the findings.

  3. The geographic spread of the CCR5 Delta32 HIV-resistance allele.

    Directory of Open Access Journals (Sweden)

    John Novembre

    2005-11-01

    Full Text Available The Delta32 mutation at the CCR5 locus is a well-studied example of natural selection acting in humans. The mutation is found principally in Europe and western Asia, with higher frequencies generally in the north. Homozygous carriers of the Delta32 mutation are resistant to HIV-1 infection because the mutation prevents functional expression of the CCR5 chemokine receptor normally used by HIV-1 to enter CD4+ T cells. HIV has emerged only recently, but population genetic data strongly suggest Delta32 has been under intense selection for much of its evolutionary history. To understand how selection and dispersal have interacted during the history of the Delta32 allele, we implemented a spatially explicit model of the spread of Delta32. The model includes the effects of sampling, which we show can give rise to local peaks in observed allele frequencies. In addition, we show that with modest gradients in selection intensity, the origin of the Delta32 allele may be relatively far from the current areas of highest allele frequency. The geographic distribution of the Delta32 allele is consistent with previous reports of a strong selective advantage (>10% for Delta32 carriers and of dispersal over relatively long distances (>100 km/generation. When selection is assumed to be uniform across Europe and western Asia, we find support for a northern European origin and long-range dispersal consistent with the Viking-mediated dispersal of Delta32 proposed by G. Lucotte and G. Mercier. However, when we allow for gradients in selection intensity, we estimate the origin to be outside of northern Europe and selection intensities to be strongest in the northwest. Our results describe the evolutionary history of the Delta32 allele and establish a general methodology for studying the geographic distribution of selected alleles.

  4. Fine mapping of dominant X-linked incompatibility alleles in Drosophila hybrids.

    Science.gov (United States)

    Matute, Daniel R; Gavin-Smyth, Jackie

    2014-04-01

    Sex chromosomes have a large effect on reproductive isolation and play an important role in hybrid inviability. In Drosophila hybrids, X-linked genes have pronounced deleterious effects on fitness in male hybrids, which have only one X chromosome. Several studies have succeeded at locating and identifying recessive X-linked alleles involved in hybrid inviability. Nonetheless, the density of dominant X-linked alleles involved in interspecific hybrid viability remains largely unknown. In this report, we study the effects of a panel of small fragments of the D. melanogaster X-chromosome carried on the D. melanogaster Y-chromosome in three kinds of hybrid males: D. melanogaster/D. santomea, D. melanogaster/D. simulans and D. melanogaster/D. mauritiana. D. santomea and D. melanogaster diverged over 10 million years ago, while D. simulans (and D. mauritiana) diverged from D. melanogaster over 3 million years ago. We find that the X-chromosome from D. melanogaster carries dominant alleles that are lethal in mel/san, mel/sim, and mel/mau hybrids, and more of these alleles are revealed in the most divergent cross. We then compare these effects on hybrid viability with two D. melanogaster intraspecific crosses. Unlike the interspecific crosses, we found no X-linked alleles that cause lethality in intraspecific crosses. Our results reveal the existence of dominant alleles on the X-chromosome of D. melanogaster which cause lethality in three different interspecific hybrids. These alleles only cause inviability in hybrid males, yet have little effect in hybrid females. This suggests that X-linked elements that cause hybrid inviability in males might not do so in hybrid females due to differing sex chromosome interactions.

  5. Consensus-based Distributed Control for Accurate Reactive, Harmonic and Imbalance Power Sharing in Microgrids

    DEFF Research Database (Denmark)

    Zhou, Jianguo; Kim, Sunghyok; Zhang, Huaguang

    2018-01-01

    This paper investigates the issue of accurate reactive, harmonic and imbalance power sharing in a microgrid. Harmonic and imbalance droop controllers are developed to proportionally share the harmonic power and the imbalance power among distributed generation (DG) units and improve the voltage...... voltage. With the proposed methods, the microgrid system reliability and flexibility can be enhanced and the knowledge of the line impedance is not required. And the reactive, harmonic and imbalance power can be proportionally shared among the DG units. Moreover, the quality of the voltage at PCC can...

  6. Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing® technology

    Directory of Open Access Journals (Sweden)

    Gallagher Margaret L

    2009-08-01

    Full Text Available Abstract Background Identification of CYP2A6 alleles associated with reduced enzyme activity is important in the study of inter-individual differences in drug metabolism. CYP2A6*12 is a hybrid allele that results from unequal crossover between CYP2A6 and CYP2A7 genes. The 5' regulatory region and exons 1–2 are derived from CYP2A7, and exons 3–9 are derived from CYP2A6. Conventional methods for detection of CYP2A6*12 consist of two-step PCR protocols that are laborious and unsuitable for high-throughput genotyping. We developed a rapid and accurate method to detect the CYP2A6*12 allele by Pyrosequencing technology. Methods A single set of PCR primers was designed to specifically amplify both the CYP2A6*1 wild-type allele and the CYP2A6*12 hybrid allele. An internal Pyrosequencing primer was used to generate allele-specific sequence information, which detected homozygous wild-type, heterozygous hybrid, and homozygous hybrid alleles. We first validated the assay on 104 DNA samples that were also genotyped by conventional two-step PCR and by cycle sequencing. CYP2A6*12 allele frequencies were then determined using the Pyrosequencing assay on 181 multi-ethnic DNA samples from subjects of African American, European Caucasian, Pacific Rim, and Hispanic descent. Finally, we streamlined the Pyrosequencing assay by integrating liquid handling robotics into the workflow. Results Pyrosequencing results demonstrated 100% concordance with conventional two-step PCR and cycle sequencing methods. Allele frequency data showed slightly higher prevalence of the CYP2A6*12 allele in European Caucasians and Hispanics. Conclusion This Pyrosequencing assay proved to be a simple, rapid, and accurate alternative to conventional methods, which can be easily adapted to the needs of higher-throughput studies.

  7. Observation of the imbalance among insulin, true insulin and leptin in type 2 diabetes mellitus patients

    International Nuclear Information System (INIS)

    Wang Susu; Zhang Zhaofu; Peng Chaosheng; Cao Ruian; Ma Xiaobing; Zang Guiming; Xia Qing; Long Nanzhan; Zhang Baohe; Wang Hongying

    2005-01-01

    To observe the imbalance among immunoreactive insulin (IRI), true insulin (TI) and leptin (LEP) in type 2 diabetes mellitus (DM)patients, 39 subjects with type 2 DM patients and 31 normal control subjects were studied. IRI was measured with RIA, while TI and LEP were determined by BA-ELISA. In type 2 DM patients the IRI concentration (16.87±1.22 mIU/L) was higher than that of normal subjects(12.33±l.31 mIU/L), and the ratio of IRI/TI(11.10±1.98) was significantly increased, but the insulin sensitivity index was obviously reduced. There was good positive correlation between IRI, TI and LEP in control individuals(r value for IRI and TI was 0.553, for IRI and LEP was 0.631 and for LEP and TI was 0.483; P<0.001 for all), where as similar correlation was not observed in the cases of type 2 DM. The results suggest that there is a good modulation among IRI, TI and LEP in normal individuals, but there exist insulin resistance, relative lack of TI and imbalance of IRI-TI-LEP axis in type 2 DM patients. (authors)

  8. Work-life imbalance and mental health among male and female employees in Switzerland.

    Science.gov (United States)

    Hämmig, Oliver; Bauer, Georg

    2009-01-01

    To investigate the prevalence and mental health effects of an unequal work-life balance (WLB) including potential gender differences. A cross-sectional study based on a representative sample of the Swiss employed population aged 20 to 64 (women: n = 1661; men: n = 1591). Based on a single-item measure, more than every seventh employee in Switzerland indicated major difficulties combining work and private life. In certain socio-demographic categories, up to 30% showed such work-life conflict (WLC). For both genders, work-life imbalance turned out to be a risk factor affecting mental health. Employees with self-reported WLC presented a significantly higher relative risk for poor self-rated health (women: aOR = 2.6/men: aOR = 2.0), negative emotions and depression (aOR = 3.0/3.1), low energy and optimism (aOR = 2.1/1.6), fatigue (aOR = 2.4/2.6), and sleep disorders (aOR = 1.8/1.5) compared to employees with no WLC. Internationally, few data on the prevalence of WLC exist. In Switzerland, work-life imbalance is not a marginal phenomenon among the workforce and needs to be addressed as a notable public and mental health issue.

  9. 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.

  10. 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.

  11. 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.

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

    International Nuclear Information System (INIS)

    Freire, Paula Paccielli; Alves, Carlos Augusto Barnabe; Deus, Adriana Fernandes de; Leopoldo, Ana Paula Lima; Leopoldo, André Soares; Silva, Danielle Cristina Tomaz da; Tomasi, Loreta Casquel de; Campos, Dijon Henrique Salomé; Cicogna, Antonio Carlos

    2014-01-01

    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

  13. 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. PMID:24465381

  14. Monitoring Top-of-Atmosphere Radiative Energy Imbalance for Climate Prediction

    Science.gov (United States)

    Lin, Bing; Chambers, Lin H.; Stackhouse, Paul W., Jr.; Minnis, Patrick

    2009-01-01

    Large climate feedback uncertainties limit the prediction accuracy of the Earth s future climate with an increased CO2 atmosphere. One potential to reduce the feedback uncertainties using satellite observations of top-of-atmosphere (TOA) radiative energy imbalance is explored. Instead of solving the initial condition problem in previous energy balance analysis, current study focuses on the boundary condition problem with further considerations on climate system memory and deep ocean heat transport, which is more applicable for the climate. Along with surface temperature measurements of the present climate, the climate feedbacks are obtained based on the constraints of the TOA radiation imbalance. Comparing to the feedback factor of 3.3 W/sq m/K of the neutral climate system, the estimated feedback factor for the current climate system ranges from -1.3 to -1.0 W/sq m/K with an uncertainty of +/-0.26 W/sq m/K. That is, a positive climate feedback is found because of the measured TOA net radiative heating (0.85 W/sq m) to the climate system. The uncertainty is caused by the uncertainties in the climate memory length. The estimated time constant of the climate is large (70 to approx. 120 years), implying that the climate is not in an equilibrium state under the increasing CO2 forcing in the last century.

  15. Handling imbalance data in churn prediction using combined SMOTE and RUS with bagging method

    Science.gov (United States)

    Pura Hartati, Eka; Adiwijaya; Arif Bijaksana, Moch

    2018-03-01

    Customer churn has become a significant problem and also a challenge for Telecommunication company such as PT. Telkom Indonesia. It is necessary to evaluate whether the big problems of churn customer and the company’s managements will make appropriate strategies to minimize the churn and retaining the customer. Churn Customer data which categorized churn Atas Permintaan Sendiri (APS) in this Company is an imbalance data, and this issue is one of the challenging tasks in machine learning. This study will investigate how is handling class imbalance in churn prediction using combined Synthetic Minority Over-Sampling (SMOTE) and Random Under-Sampling (RUS) with Bagging method for a better churn prediction performance’s result. The dataset that used is Broadband Internet data which is collected from Telkom Regional 6 Kalimantan. The research firstly using data preprocessing to balance the imbalanced dataset and also to select features by sampling technique SMOTE and RUS, and then building churn prediction model using Bagging methods and C4.5.

  16. 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.

  17. Imbalance of tumor necrosis factor receptors during progression in bovine leukemia virus infection

    International Nuclear Information System (INIS)

    Konnai, Satoru; Usui, Tatsufumi; Ikeda, Manabu; Kohara, Junko; Hirata, Toh-ichi; Okada, Kosuke; Ohashi, Kazuhiko; Onuma, Misao

    2005-01-01

    Previously, we found an up-regulation of tumor necrosis factor alpha (TNF)-α and an imbalance of TNF receptors in sheep experimentally infected with bovine leukemia virus (BLV). In order to investigate the different TNF-α-induced responses, in this study we examined the TNF-α-induced proliferative response and the expression levels of two distinct TNF receptors on peripheral blood mononuclear cells (PBMC) derived from BLV-uninfected cattle and BLV-infected cattle that were aleukemic (AL) or had persistent lymphocytosis (PL). The proliferative response of PBMC isolated from those cattle with PL in the presence of recombinant bovine TNF-α (rTNF-α) was significantly higher than those from AL cattle and uninfected cattle and the cells from PL cattle expressed significantly higher mRNA levels of TNF receptor type II (TNF-RII) than those from AL and BLV-uninfected cattle. No difference was found in TNF-RI mRNA levels. Most cells expressing TNF-RII in PL cattle were CD5 + or sIgM + cells and these cells showed resistance to TNF-α-induced apoptosis. Additionally, there were significant positive correlations between the changes in provirus load and TNF-RII mRNA levels, and TNF-α-induced proliferation and TNF-RII mRNA levels. These data suggest that imbalance in the expression of TNF receptors could at least in part contribute to the progression of lymphocytosis in BLV infection

  18. Strength and fatigability of selected muscles in upper limb: assessing muscle imbalance relevant to tennis elbow.

    Science.gov (United States)

    Alizadehkhaiyat, O; Fisher, A C; Kemp, G J; Frostick, S P

    2007-08-01

    The aetiology of tennis elbow has remained uncertain for more than a century. To examine muscle imbalance as a possible pathophysiological factor requires a reliable method of assessment. This paper describes the development of such a method and its performance in healthy subjects. We propose a combination of surface and fine-wire EMG of shoulder and forearm muscles and wrist strength measurements as a reliable tool for assessing muscle imbalance relevant to the pathophysiology of tennis elbow. Six healthy volunteers participated. EMG data were acquired at 50% maximal voluntary isometric contraction from five forearm muscles during grip and three shoulder muscles during external rotation and abduction, and analysed using normalized median frequency slope as a fatigue index. Wrist extension/flexion strength was measured using a purpose-built dynamometer. Significant negative slope of median frequency was found for all muscles, with good reproducibility, and no significant difference in slope between the different muscles of the shoulder and the wrist. (Amplitude slope showed high variability and was therefore unsuitable for this purpose.) Wrist flexion was 27+/-8% stronger than extension (mean+/-SEM, p=0.006). This is a reliable method for measuring muscle fatigue in forearm and shoulder. EMG and wrist strength studies together can be used for assessing and identifying the muscle balance in the wrist-forearm-shoulder chain.

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    Gowda Cholenahalli LL

    2008-10-01

    Full Text Available Abstract Background Plant genetic resources (PGR are the basic raw materials for future genetic progress and an insurance against unforeseen threats to agricultural production. An extensive characterization of PGR provides an opportunity to dissect structure, mine allelic variations, and identify diverse accessions for crop improvement. The Generation Challenge Program http://www.generationcp.org conceptualized the development of "composite collections" and extraction of "reference sets" from these for more efficient tapping of global crop-related genetic resources. In this study, we report the genetic structure, diversity and allelic richness in a composite collection of chickpea using SSR markers, and formation of a reference set of 300 accessions. Results The 48 SSR markers detected 1683 alleles in 2915 accessions, of which, 935 were considered rare, 720 common and 28 most frequent. The alleles per locus ranged from 14 to 67, averaged 35, and the polymorphic information content was from 0.467 to 0.974, averaged 0.854. Marker polymorphism varied between groups of accessions in the composite collection and reference set. A number of group-specific alleles were detected: 104 in Kabuli, 297 in desi, and 69 in wild Cicer; 114 each in Mediterranean and West Asia (WA, 117 in South and South East Asia (SSEA, and 10 in African region accessions. Desi and kabuli shared 436 alleles, while wild Cicer shared 17 and 16 alleles with desi and kabuli, respectively. The accessions from SSEA and WA shared 74 alleles, while those from Mediterranean 38 and 33 alleles with WA and SSEA, respectively. Desi chickpea contained a higher proportion of rare alleles (53% than kabuli (46%, while wild Cicer accessions were devoid of rare alleles. A genotype-based reference set captured 1315 (78% of the 1683 composite collection alleles of which 463 were rare, 826 common, and 26 the most frequent alleles. The neighbour-joining tree diagram of this reference set represents

  1. Redox Imbalance and Viral Infections in Neurodegenerative Diseases

    Directory of Open Access Journals (Sweden)

    Dolores Limongi

    2016-01-01

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

  2. Investigation of Global Imbalances Based on a Gravity Model

    Directory of Open Access Journals (Sweden)

    Hyun-Hoon Lee

    2011-06-01

    Full Text Available Using the US Treasury International Capital (TIC data, this paper attempts to analyze the size and trend of foreign investment in the U.S. in the form of equities, bonds and bank lending during the period of 2001-2007. In addition, this paper assesses the determinants of foreign investment in the U.S., using the financial gravity model which includes an East Asian dummy as an explanatory variable. The results show that most East Asian countries have invested more in the U.S. than the optimal level suggested by the gravity model. Such an over-investment is more evident in long-term bond investment than in equity investment or bank lending. Thus, the results confirm that global imbalance does exist between East Asian countries and the U.S.

  3. Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots.

    Science.gov (United States)

    Baker, Christopher L; Petkova, Pavlina; Walker, Michael; Flachs, Petr; Mihola, Ondrej; Trachtulec, Zdenek; Petkov, Petko M; Paigen, Kenneth

    2015-09-01

    Genetic recombination during meiosis functions to increase genetic diversity, promotes elimination of deleterious alleles, and helps assure proper segregation of chromatids. Mammalian recombination events are concentrated at specialized sites, termed hotspots, whose locations are determined by PRDM9, a zinc finger DNA-binding histone methyltransferase. Prdm9 is highly polymorphic with most alleles activating their own set of hotspots. In populations exhibiting high frequencies of heterozygosity, questions remain about the influences different alleles have in heterozygous individuals where the two variant forms of PRDM9 typically do not activate equivalent populations of hotspots. We now find that, in addition to activating its own hotspots, the presence of one Prdm9 allele can modify the activity of hotspots activated by the other allele. PRDM9 function is also dosage sensitive; Prdm9+/- heterozygous null mice have reduced numbers and less active hotspots and increased numbers of aberrant germ cells. In mice carrying two Prdm9 alleles, there is allelic competition; the stronger Prdm9 allele can partially or entirely suppress chromatin modification and recombination at hotspots of the weaker allele. In cell cultures, PRDM9 protein variants form functional heteromeric complexes which can bind hotspots sequences. When a heteromeric complex binds at a hotspot of one PRDM9 variant, the other PRDM9 variant, which would otherwise not bind, can still methylate hotspot nucleosomes. We propose that in heterozygous individuals the underlying molecular mechanism of allelic suppression results from formation of PRDM9 heteromers, where the DNA binding activity of one protein variant dominantly directs recombination initiation towards its own hotspots, effectively titrating down recombination by the other protein variant. In natural populations with many heterozygous individuals, allelic competition will influence the recombination landscape.

  4. Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.

    Science.gov (United States)

    Urrutia, Inés; Martínez, Rosa; López-Euba, Tamara; Velayos, Teresa; Martínez de LaPiscina, Idoia; Bilbao, José Ramón; Rica, Itxaso; Castaño, Luis

    2017-01-01

    The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed genetic diagnosis of MODY. 160 families with a proband diagnosed with type 1 diabetes and 74 families with a molecular diagnosis of MODY (61 GCK-MODY and 13 HNF1A-MODY) were categorized at high definition for HLA-DRB1 locus. According to the presence or absence of the susceptible HLA-DRB1 alleles for type 1 diabetes, we considered three different HLA-DRB1 genotypes: 0 risk alleles (no DR3 no DR4); 1 risk allele (DR3 or DR4); 2 risk alleles (DR3 and/or DR4). Compared with type 1 diabetes, patients with MODY carried higher frequency of 0 risk alleles, OR 22.7 (95% CI: 10.7-48.6) and lower frequency of 1 or 2 risk alleles, OR 0.53 (95% CI: 0.29-0.96) and OR 0.06 (95% CI: 0.02-0.18), respectively. The frequency of HLA-DRB1 risk alleles for type 1 diabetes is significantly lower in patients with MODY. In children and adolescents with diabetes, the presence of 2 risk alleles (DR3 and/or DR4) reduces the probability of MODY diagnosis, whereas the lack of risk alleles increases it. Therefore, we might consider that HLA-DRB1 provides additional information for the selection of patients with high probability of monogenic diabetes.

  5. Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.

    Directory of Open Access Journals (Sweden)

    Inés Urrutia

    Full Text Available The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed genetic diagnosis of MODY.160 families with a proband diagnosed with type 1 diabetes and 74 families with a molecular diagnosis of MODY (61 GCK-MODY and 13 HNF1A-MODY were categorized at high definition for HLA-DRB1 locus. According to the presence or absence of the susceptible HLA-DRB1 alleles for type 1 diabetes, we considered three different HLA-DRB1 genotypes: 0 risk alleles (no DR3 no DR4; 1 risk allele (DR3 or DR4; 2 risk alleles (DR3 and/or DR4.Compared with type 1 diabetes, patients with MODY carried higher frequency of 0 risk alleles, OR 22.7 (95% CI: 10.7-48.6 and lower frequency of 1 or 2 risk alleles, OR 0.53 (95% CI: 0.29-0.96 and OR 0.06 (95% CI: 0.02-0.18, respectively.The frequency of HLA-DRB1 risk alleles for type 1 diabetes is significantly lower in patients with MODY. In children and adolescents with diabetes, the presence of 2 risk alleles (DR3 and/or DR4 reduces the probability of MODY diagnosis, whereas the lack of risk alleles increases it. Therefore, we might consider that HLA-DRB1 provides additional information for the selection of patients with high probability of monogenic diabetes.

  6. 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...

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

    Science.gov (United States)

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

    2016-08-03

    Over production of reactive oxygen species (ROS) is postulated to be the main contributor in degeneration of nigrostriatal dopaminergic neurons. In this study we investigated the effects of WR1065, a free radical scavenger, on motor imbalance, oxidative stress parameters and inflammatory cytokines in CSF and brain of hemi-parkinsonian rats. Lesion of dopaminergic neurons was done by unilateral infusion of 6-hydroxydopamine into the central region of the substentia nigra pars compacta (SNc) to induce hemi-parkinsonism and motor imbalance in rats. WR1065 (20, 40 and 80μg/2μl/rat) was administered three days before 6-OHDA administration. After three weeks behavioral study was performed and then brain and CSF samples were collected to assess tumor necrosis factor (TNFα), interlukin (IL-1β), reduced glutathione (GSH), and malondialdehyde (MDA). WR1065 pre-treatment in rats before receiving 6-OHDA, improved significantly motor impairment and caused reduction of MDA and inflammatory cytokines TNFα and IL-1β levels, while GSH level significantly increased when compared with lesioned rats. Our study indicated that WR1065 could improve 6-OHDA-induced motor imbalance. Furthermore, it decreased lipid peroxidation and inflammatory cytokines and restored the level of GSH up to normal range. We suggest that WR1065 can be proposed as a potential neuroprotective agent in motor impairments of PD. However to prove this hypothesis more clinical trial studies should be done. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. Allele-specific physical interactions regulate the heterotic traits in hybrids of Arabidopsis thaliana ecotypes

    Directory of Open Access Journals (Sweden)

    Babita Singh

    2017-10-01

    Full Text Available Heterosis is an important phenomenon for the breeding in agricultural crops as it influences yield related traits such as biomass yield, seed number and weight, adaptive and reproductive traits. However, the level of heterosis greatly varies for different traits and different genotypes. The present study focuses on identification of physical interactions between alleles and their role in transcriptional regulation in heterotic plants. Here, we used two Arabidopsis ecotypes; Col-0 and C24 as parent for crosses. We performed crossing between these ecotypes and screened the F1 hybrids on the basis of different SSR markers. Further, we used Hi-C to capture intra- and inter-chromosomal physical interactions between alleles on genome-wide level. Then, we identified allele-specific chromatin interactions and constructed genome-wide allele-specific contact maps at different resolutions for the entire chromosome. We also performed RNA-seq of hybrids and their parents. RNA-seq analysis identified several differentially expressed genes and non-additively expressed genes in hybrids with respect to their parents. Further, to understand the biological significance of these chromatin interactions, we annotated these interactions and correlated with the transcriptome data. Thus, our study provides alleles-specific chromatin interactions in genome-wide fashion which play a crucial role in regulation of different genes that may be important for heterosis.

  9. Allele-specific cytokine responses at the HLA-C locus, implications for psoriasis

    Science.gov (United States)

    Hundhausen, Christian; Bertoni, Anna; Mak, Rose K; Botti, Elisabetta; Di Meglio, Paola; Clop, Alex; Laggner, Ute; Chimenti, Sergio; Hayday, Adrian C; Barker, Jonathan N; Trembath, Richard C; Capon, Francesca; Nestle, Frank O

    2011-01-01

    Psoriasis is an inflammatory skin disorder that is inherited as a complex trait. Genetic studies have repeatedly highlighted HLA-C as the major determinant for psoriasis susceptibility, with the Cw*0602 allele conferring significant disease risk in a wide-range of populations. Despite the potential importance of HLA-C variation in psoriasis, either via an effect on peptide presentation or immuno-inhibitory activity, allele-specific expression patterns have not been investigated. Here, we used reporter assays to characterize two regulatory variants, which virtually abolished the response to TNF-α (rs2524094) and IFN-γ (rs10657191) in HLA-Cw*0602 and a cluster of related alleles. We validated these findings through the analysis of HLA-Cw*0602 expression in primary keratinocytes treated with TNF-α and IFN-γ. Finally, we showed that HLA-Cw*0602 transcripts are not increased in psoriatic skin lesions, despite highly elevated TNF-α levels. Thus, our findings demonstrate the presence of allele-specific differences in HLA-C expression and indicate that HLA-Cw*0602 is unresponsive to up-regulation by key pro-inflammatory cytokines in psoriasis. These data pave the way for functional studies into the pathogenic role of the major psoriasis susceptibility allele. PMID:22113476

  10. Allele-specific cytokine responses at the HLA-C locus: implications for psoriasis.

    Science.gov (United States)

    Hundhausen, Christian; Bertoni, Anna; Mak, Rose K; Botti, Elisabetta; Di Meglio, Paola; Clop, Alex; Laggner, Ute; Chimenti, Sergio; Hayday, Adrian C; Barker, Jonathan N; Trembath, Richard C; Capon, Francesca; Nestle, Frank O

    2012-03-01

    Psoriasis is an inflammatory skin disorder that is inherited as a complex trait. Genetic studies have repeatedly highlighted HLA-C as the major determinant for psoriasis susceptibility, with the Cw*0602 allele conferring significant disease risk in a wide range of populations. Despite the potential importance of HLA-C variation in psoriasis, either via an effect on peptide presentation or immuno-inhibitory activity, allele-specific expression patterns have not been investigated. Here, we used reporter assays to characterize two regulatory variants, which virtually abolished the response to tumor necrosis factor (TNF)-α (rs2524094) and IFN-γ (rs10657191) in HLA-Cw*0602 and a cluster of related alleles. We validated these findings through the analysis of HLA-Cw*0602 expression in primary keratinocytes treated with TNF-α and IFN-γ. Finally, we showed that HLA-Cw*0602 transcripts are not increased in psoriatic skin lesions, despite highly elevated TNF-α levels. Thus, our findings demonstrate the presence of allele-specific differences in HLA-C expression and indicate that HLA-Cw*0602 is unresponsive to upregulation by key proinflammatory cytokines in psoriasis. These data pave the way for functional studies into the pathogenic role of the major psoriasis susceptibility allele.

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

    Science.gov (United States)

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

    2016-07-22

    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. Twenty-five adults with spinal sagittal imbalance who initially came to our clinic for treatment of LDH, followed by posterior discectomy were reviewed. The horizontal distance between C7 plumb line-sagittal vertical axis (C7PL-SVA) greater than 5 cm anteriorly with forward bending posture is considered as spinal sagittal imbalance. Radiographic parameters including thoracic kyphotic angle (TK), lumbar lordotic angle (LL), pelvic tilting angle (PT), sacral slope angle (SS) and an electromyography(EMG) index 'the largest recruitment order' were recorded and compared. All patients restored coronal and sagittal balance immediately after lumbar discectomy. The mean C7PL-SVA and trunk shift value decreased from (11.6 ± 6.6 cm, and 2.9 ± 6.1 cm) preoperatively to (-0.5 ± 2.6 cm and 0.2 ± 0.5 cm) postoperatively, while preoperative LL and SS increased from (25.3° ± 14.0° and 25.6° ± 9.5°) to (42.4° ± 10.2° and 30.4° ± 8.7°) after surgery (P imbalance caused by LDH is one type of compensatory sagittal imbalance. Compensatory mechanism of spinal sagittal imbalance mainly includes a loss of lumbar lordosis, an increase of thoracic kyphosis and pelvis tilt. Spinal musculature plays an important role in spinal sagittal imbalance in patients with LDH.

  12. Estimating and testing the effect of allelic recombination on the ...

    African Journals Online (AJOL)

    Jane

    2011-01-21

    Jan 21, 2011 ... The significance of the correlation coefficient as well as the fitted regression model was obtained using. Analysis of Variance method. Key words: Allele, genotype, regression, correlation, F-ratio, analysis of variance. INTRODUCTION .... while if the allelic replacement is being made on an Aa individual the ...

  13. 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

  14. Comparison of bovine lymphocyte antigen DRB3.2 allele ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-08-04

    Aug 4, 2008 ... The bovine lymphocyte antigen (BoLA-DRB3) gene encodes cell ... alleles were more resistant to clinical mastitis. ... DRB3.2 allele pattern in two Iranian Holstein cow .... observed and the number of immune parameters with.

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

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1997-01-01

    codominantly in both pollen and style (SSIcod), in the second, alleles form a dominance hierarchy in pollen and style (SSIdom). In the third model, alleles interact codominantly in the style and form a dominance hierarchy in the pollen (SSIdomcod). The SSIcod model behaves similarly to the model...

  16. Clinical significance of changes and ratio imbalance of neuropeptide Y and neurotensin in patients with essential hypertension

    International Nuclear Information System (INIS)

    Ji Wenxin; Zhang Yuanzhuo; Qiu Jie; Qin Ling

    2006-01-01

    Objective: To study the effects of changes of neuropeptide Y (NPY) and neurotensin (NT) concentrations in plasma and their ratio imbalance on the incidence of essential hypertension (EH). Methods: NPY and NT in plasma in 176 patients with EH were measured with radioimmunoassay (RIA). Results: NPY in the EH patients was higher than that in the normal subjects (P<0.01), and went up with the aggravation of the patients' condition (P<0.01). NT in the EH patients was lower compared with the normal subjects (P<0.01), and went down with the aggravation of the patients' condition (P<0.01). NPY/NT in the EH patients was higher than that in the normal subjects (P<0.01), and was accordant with patients' condition. Conclusion: NPY and NT are involved in the incidence of EH. The ratio imbalance of NPY/NT may be one of the factors causing EH. (authors)

  17. Diploid male dynamics under different numbers of sexual alleles and male dispersal abilities.

    Science.gov (United States)

    Faria, Luiz R R; Soares, Elaine Della Giustina; Carmo, Eduardo do; Oliveira, Paulo Murilo Castro de

    2016-09-01

    Insects in the order Hymenoptera (bees, wasps and ants) present an haplodiploid system of sexual determination in which fertilized eggs become females and unfertilized eggs males. Under single locus complementary sex-determination (sl-CSD) system, the sex of a specimen depends on the alleles at a single locus: when diploid, an individual will be a female if heterozygous and male if homozygous. Significant diploid male (DM) production may drive a population to an extinction scenario called "diploid male vortex". We aimed at studying the dynamics of populations of a sl-CSD organism under several combinations of two parameters: male flight abilities and number of sexual alleles. In these simulations, we evaluated the frequency of DM and a genetic diversity measure over 10,000 generations. The number of sexual alleles varied from 10 to 100 and, at each generation, a male offspring might fly to another random site within a varying radius R. Two main results emerge from our simulations: (i) the number of DM depends more on male flight radius than on the number of alleles; (ii) in large geographic regions, the effect of males flight radius on the allelic diversity turns out much less pronounced than in small regions. In other words, small regions where inbreeding normally appears recover genetic diversity due to large flight radii. These results may be particularly relevant when considering the population dynamics of species with increasingly limited dispersal ability (e.g., forest-dependent species of euglossine bees in fragmented landscapes).

  18. 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.

  19. 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....... Results: A total of 309 (6.8%) participants started antidepressant treatment during follow-up. Exposure to ERI at baseline was not related to risk of antidepressant treatment (hazard ratio: 0.91, 95% CI=0.81–1.03 after adjustment for potential confounders). Limitations: The use of antidepressant treatment...

  20. Wife Beating in South Africa: An Imbalance Theory of Resources and Power

    Science.gov (United States)

    Choi, Susanne Y. P.; Ting, Kwok-Fai

    2008-01-01

    This article develops an imbalance theory to explain physical violence against women in intimate relationships in South Africa. The theory proposes four typologies: dependence, compensation, submission, and transgression, through which imbalances in resource contribution and power distribution between spouses are hypothesized to contribute to…

  1. Excitatory/inhibitory imbalance in autism spectrum disorders: Implications for interventions and therapeutics.

    Science.gov (United States)

    Uzunova, Genoveva; Pallanti, Stefano; Hollander, Eric

    2016-04-01

    Imbalance between excitation and inhibition and increased excitatory-inhibitory (E-I) ratio is a common mechanism in autism spectrum disorders (ASD) that is responsible for the learning and memory, cognitive, sensory, motor deficits, and seizures occurring in these disorders. ASD are very heterogeneous and better understanding of E-I imbalance in brain will lead to better diagnosis and treatments. We perform a critical literature review of the causes and presentations of E-I imbalance in ASD. E-I imbalance in ASD is due primarily to abnormal glutamatergic and GABAergic neurotransmission in key brain regions such as neocortex, hippocampus, amygdala, and cerebellum. Other causes are due to dysfunction of neuropeptides (oxytocin), synaptic proteins (neuroligins), and immune system molecules (cytokines). At the neuropathological level E-I imbalance in ASD is presented as a "minicolumnopathy". E-I imbalance alters the manner by which the brain processes information and regulates behaviour. New developments for investigating E-I imbalance such as optogenetics and transcranial magnetic stimulation (TMS) are presented. Non-invasive brain stimulation methods such as TMS for treatment of the core symptoms of ASD are discussed. Understanding E-I imbalance has important implications for developing better pharmacological and behavioural treatments for ASD, including TMS, new drugs, biomarkers and patient stratification.

  2. 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

  3. The effect of impurity scattering on the thermally induced charge imbalance in a clean superconductor