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  1. An Empirical Study of Logistics Organization, Electronic Linkage, and Performance

    1993-01-01

    Anvari, M., "Electronic Data Interchange and Inventories," International Journal of Production Economics , 26, 1-3 (1992), 135-143. Baker, R. H., EDI: What...Electronic Data Interchange -- A Study of Norwegian Freight Forwarders Using EDI," International Journal of Production Economics , 24 (1991), 91-101. Henry, G

  2. PLAB and UK graduates' performance on MRCP(UK) and MRCGP examinations: data linkage study

    McManus, I. C.; Wakeford, R.

    2014-01-01

    OBJECTIVES: To assess whether international medical graduates passing the two examinations set by the Professional and Linguistic Assessments Board (PLAB1 and PLAB2) of the General Medical Council (GMC) are equivalent to UK graduates at the end of the first foundation year of medical training (F1), as the GMC requires, and if not, to assess what changes in the PLAB pass marks might produce equivalence. DESIGN: Data linkage of GMC PLAB performance data with data from the Royal Colleges of Phys...

  3. When to conduct probabilistic linkage vs. deterministic linkage? A simulation study.

    Zhu, Ying; Matsuyama, Yutaka; Ohashi, Yasuo; Setoguchi, Soko

    2015-08-01

    When unique identifiers are unavailable, successful record linkage depends greatly on data quality and types of variables available. While probabilistic linkage theoretically captures more true matches than deterministic linkage by allowing imperfection in identifiers, studies have shown inconclusive results likely due to variations in data quality, implementation of linkage methodology and validation method. The simulation study aimed to understand data characteristics that affect the performance of probabilistic vs. deterministic linkage. We created ninety-six scenarios that represent real-life situations using non-unique identifiers. We systematically introduced a range of discriminative power, rate of missing and error, and file size to increase linkage patterns and difficulties. We assessed the performance difference of linkage methods using standard validity measures and computation time. Across scenarios, deterministic linkage showed advantage in PPV while probabilistic linkage showed advantage in sensitivity. Probabilistic linkage uniformly outperformed deterministic linkage as the former generated linkages with better trade-off between sensitivity and PPV regardless of data quality. However, with low rate of missing and error in data, deterministic linkage performed not significantly worse. The implementation of deterministic linkage in SAS took less than 1min, and probabilistic linkage took 2min to 2h depending on file size. Our simulation study demonstrated that the intrinsic rate of missing and error of linkage variables was key to choosing between linkage methods. In general, probabilistic linkage was a better choice, but for exceptionally good quality data (<5% error), deterministic linkage was a more resource efficient choice. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. PLAB and UK graduates’ performance on MRCP(UK) and MRCGP examinations: data linkage study

    Wakeford, Richard

    2014-01-01

    Objectives To assess whether international medical graduates passing the two examinations set by the Professional and Linguistic Assessments Board (PLAB1 and PLAB2) of the General Medical Council (GMC) are equivalent to UK graduates at the end of the first foundation year of medical training (F1), as the GMC requires, and if not, to assess what changes in the PLAB pass marks might produce equivalence. Design Data linkage of GMC PLAB performance data with data from the Royal Colleges of Physicians and the Royal College of General Practitioners on performance of PLAB graduates and UK graduates at the MRCP(UK) and MRCGP examinations. Setting Doctors in training for internal medicine or general practice in the United Kingdom. Participants 7829, 5135, and 4387 PLAB graduates on their first attempt at MRCP(UK) Part 1, Part 2, and PACES assessments from 2001 to 2012 compared with 18 532, 14 094, and 14 376 UK graduates taking the same assessments; 3160 PLAB1 graduates making their first attempt at the MRCGP AKT during 2007-12 compared with 14 235 UK graduates; and 1411 PLAB2 graduates making their first attempt at the MRCGP CSA during 2010-12 compared with 6935 UK graduates. Main outcome measures Performance at MRCP(UK) Part 1, Part 2, and PACES assessments, and MRCGP AKT and CSA assessments in relation to performance on PLAB1 and PLAB2 assessments, as well as to International English Language Testing System (IELTS) scores. MRCP(UK), MRCGP, and PLAB results were analysed as marks relative to the pass mark at the first attempt. Results PLAB1 marks were a valid predictor of MRCP(UK) Part 1, MRCP(UK) Part 2, and MRCGP AKT (r=0.521, 0.390, and 0.490; all PIELTS scores correlated significantly with later performance, multiple regression showing that the effect of PLAB1 (β=0.496) was much stronger than the effect of IELTS (β=0.086). Changes to PLAB pass marks that would result in international medical graduate and UK medical graduate equivalence were assessed in two

  5. PLAB and UK graduates' performance on MRCP(UK) and MRCGP examinations: data linkage study.

    McManus, I C; Wakeford, Richard

    2014-04-17

    To assess whether international medical graduates passing the two examinations set by the Professional and Linguistic Assessments Board (PLAB1 and PLAB2) of the General Medical Council (GMC) are equivalent to UK graduates at the end of the first foundation year of medical training (F1), as the GMC requires, and if not, to assess what changes in the PLAB pass marks might produce equivalence. Data linkage of GMC PLAB performance data with data from the Royal Colleges of Physicians and the Royal College of General Practitioners on performance of PLAB graduates and UK graduates at the MRCP(UK) and MRCGP examinations. Doctors in training for internal medicine or general practice in the United Kingdom. 7829, 5135, and 4387 PLAB graduates on their first attempt at MRCP(UK) Part 1, Part 2, and PACES assessments from 2001 to 2012 compared with 18,532, 14,094, and 14,376 UK graduates taking the same assessments; 3160 PLAB1 graduates making their first attempt at the MRCGP AKT during 2007-12 compared with 14,235 UK graduates; and 1411 PLAB2 graduates making their first attempt at the MRCGP CSA during 2010-12 compared with 6935 UK graduates. Performance at MRCP(UK) Part 1, Part 2, and PACES assessments, and MRCGP AKT and CSA assessments in relation to performance on PLAB1 and PLAB2 assessments, as well as to International English Language Testing System (IELTS) scores. MRCP(UK), MRCGP, and PLAB results were analysed as marks relative to the pass mark at the first attempt. PLAB1 marks were a valid predictor of MRCP(UK) Part 1, MRCP(UK) Part 2, and MRCGP AKT (r=0.521, 0.390, and 0.490; all PIELTS scores correlated significantly with later performance, multiple regression showing that the effect of PLAB1 (β=0.496) was much stronger than the effect of IELTS (β=0.086). Changes to PLAB pass marks that would result in international medical graduate and UK medical graduate equivalence were assessed in two ways. Method 1 adjusted PLAB pass marks to equate median performance of PLAB

  6. A STUDY ON THE LINKAGE BETWEEN EMOTIONAL INTELLIGENCE AND JOB PERFORMANCE OF SOFTWARE PROFESSIONALS IN TAMILNADU

    B. Rajkumar

    2018-01-01

    Emotional intelligence (EI), a recent construct which predicts various performance and leadership traits helps companies to deploy quality work force. Emotional Intelligence (EI) has emerged as a theme of widespread interest in psychological research in recent years. It affects the day-to-day life of everyone. EI is the ability to recognize our own potential as well manages everything as per situation. At work place, emotions are mainly based on two prospectors, namely, sociological and psych...

  7. An empirical study of innovation-performance linkage in the paper industry

    Farooquie, Parveen; Gani, Abdul; Zuberi, Arsalanullah K.; Hashmi, Imran

    2012-10-01

    To enter new markets and remain competitive in the existing markets, companies need to shift their focus from traditional means and ways to some innovative approaches. Though the paper industry in India has improved remarkably on its technological and environmental issues, yet it shows a low rate of innovation. The present paper attempts to review the industry in the perspective of technological innovations and investigates empirically the role of innovations in performance improvement and pollution control. Multivariate analysis of variance and discriminant function analysis are applied for data processing. The findings reveal that the mean scores on the factors, such as sales, quality, and flexibility, are higher for the good innovators than those for the poor innovators. Conversely, the factors which are likely to be reduced as a result of innovations, such as time, cost, emissions, and disposal of waste, have shown higher means for the poor innovators.

  8. The ability of 'non-cognitive' traits to predict undergraduate performance in medical schools: a national linkage study.

    Finn, Gabrielle M; Mwandigha, Lazaro; Paton, Lewis W; Tiffin, Paul A

    2018-05-03

    In addition to the evaluation of educational attainment and intellectual ability there has been interest in the potential to select medical school applicants on non-academic qualities. Consequently, a battery of self-report measures concerned with assessing 'non-cognitive' traits was piloted as part of the UK Clinical Aptitude Test (UKCAT) administration to evaluate their potential to be used in selection. The four non-cognitive instruments piloted were: 1) the Libertarian-communitarian scale, (2) The NACE (narcissism, aloofness, confidence and empathy, (3) the MEARS (Managing emotions and resilience scale; self-esteem, optimism, control, self-discipline, emotional-nondefensiveness and faking, and (4) an abridged version of instruments (1) and (2) combined. Non-cognitive scores and sociodemographic characteristics were available for 14,387 applicants. A series of univariable and multivariable analyses were conducted in order to assess the ability of the non-cognitive scores to predict knowledge and skills-based performance, as well as the odds of passing each academic year at first attempt. Non-cognitive scores and medical performance were standardised within cohorts. The scores on the non-cognitive scales showed only very small (magnitude of standardised betas< 0.2), though sometimes statistically significant (p < 0.01) univariable associations with subsequent performance on knowledge or skills-based assessments. The only statistically significant association between the non-cognitive scores and the probability of passing an academic year at first attempt was the narcissism score from one the abridged tests (OR 0.84,95% confidence intervals 0.71 to 0.97, p = 0.02). Our findings are consistent with previously published research. The tests had a very limited ability to predict undergraduate academic performance, though further research on identifying narcissism in medical students may be warranted. However, the validity of such self-report tools in high

  9. Is medical perspective on clinical governance practices associated with clinical units’ performance and mortality? A cross-sectional study through a record-linkage procedure

    Guido Sarchielli

    2016-07-01

    Full Text Available Objective: Assessment of the knowledge and application as well as perceived utility by doctors of clinical governance tools in order to explore their impact on clinical units’ performance measured through mortality rates and efficiency indicators. Methods: This research is a cross-sectional study with a deterministic record-linkage procedure. The sample includes n = 1250 doctors (n = 249 chiefs of clinical units; n = 1001 physicians working in six public hospitals located in the Emilia-Romagna Region in Italy. Survey instruments include a checklist and a research-made questionnaire which were used for data collection about doctors’ knowledge and application as well as perceived utility of clinical governance tools. The analysis was based on clinical units’ performance indicators which include patients’ mortality, extra-region active mobility rate, average hospital stay, bed occupancy, rotation and turnover rates, and the comparative performance index as efficiency indicators. Results: The clinical governance tools are known and applied differently in all the considered clinical units. Significant differences emerged between roles and organizational levels at which the medical leadership is carried out. The levels of knowledge and application of clinical governance practices are correlated with the clinical units’ efficiency indicators (bed occupancy rate, bed turnover interval, and extra-region mobility. These multiple linear regression analyses highlighted that the clinical governance knowledge and application is correlated with clinical units’ mortality rates (odds ratio, −8.677; 95% confidence interval, −16.654, −0.700. Conclusion: The knowledge and application, as well as perceived utility by medical professionals of clinical governance tools, are associated with the mortality rates of their units and with some efficiency indicators. However, the medical frontline staff seems to not consider homogeneously useful

  10. Predicting sales performance: Strengthening the personality – job performance linkage

    T.B. Sitser (Thomas)

    2014-01-01

    markdownabstract__Abstract__ Many organizations worldwide use personality measures to select applicants for sales jobs or to assess incumbent sales employees. In the present dissertation, consisting of four independent studies, five approaches to strengthen the personality-sales performance

  11. Corporate identity, customer orientation and performance of SMEs: Exploring the linkages

    Upendra Kumar Maurya

    2015-09-01

    Full Text Available This research aims to explore the impact of corporate identity (CI on performance in B2C small and medium enterprises (SMEs in food processing, with varying degrees of customer orientation (CO. The research is embedded in the positivistic paradigm. Based on a literature review, a conceptual model (consisting of five hypotheses has been tested with 102 samples using PLS-SEM tool. This study establishes the mediating role of CO on the CI and performance linkage, it provides empirical evidence to CI and performance linkage, and makes an incremental contribution by extension of theory of CI and CO in the given context.

  12. Corporate social Responsibility : Linkage Business Performance and Social Performance

    Tengku Ezni Balqiah

    2017-10-01

    Full Text Available Various types of corporate social responsibility (CSR are perceived differently by parties associated with those activities because CSR is driven by different motives. This study investigates how CSR activities – CSR activities concerning health and well-being of mothers and children – act as liaisons between business performance (brand attitude and loyalty and social performance (children’s quality of life. A survey was conducted in Indonesia on 450 respondents–customers of firms in industries related to natural resources and in regards to children’s well-being. The data were considered via factor analysis and multiple regression analysis. The results show business, stakeholder, and moral motives. Brand attitude and loyalty can influence perceptions toward these motive. Further, these motives could increase or decrease social performance. Companies should consider the type of CSR activities to engage in because the activities can be perceived as being driven by different motives and have different impacts on social performance. This result suggests that companies can harmonize business aspects and social aspects of CSR in creating value.

  13. Transformational leadership climate : Performance linkages, mechanisms, and boundary conditions at the organizational level

    Menges, J.; Walter, F.; Vogel, B.; Bruch, H.

    2011-01-01

    Transformational leadership (TFL) climate describes the degree to which leaders throughout an organization engage in TFL behaviors. In this study, we investigate performance linkages, mechanisms, and boundary conditions of TFL climate at the organizational level of analysis. In a sample of 158

  14. A new method for assessing how sensitivity and specificity of linkage studies affects estimation.

    Cecilia L Moore

    Full Text Available While the importance of record linkage is widely recognised, few studies have attempted to quantify how linkage errors may have impacted on their own findings and outcomes. Even where authors of linkage studies have attempted to estimate sensitivity and specificity based on subjects with known status, the effects of false negatives and positives on event rates and estimates of effect are not often described.We present quantification of the effect of sensitivity and specificity of the linkage process on event rates and incidence, as well as the resultant effect on relative risks. Formulae to estimate the true number of events and estimated relative risk adjusted for given linkage sensitivity and specificity are then derived and applied to data from a prisoner mortality study. The implications of false positive and false negative matches are also discussed.Comparisons of the effect of sensitivity and specificity on incidence and relative risks indicate that it is more important for linkages to be highly specific than sensitive, particularly if true incidence rates are low. We would recommend that, where possible, some quantitative estimates of the sensitivity and specificity of the linkage process be performed, allowing the effect of these quantities on observed results to be assessed.

  15. Evidence for an asthma risk locus on chromosome Xp: a replication linkage study

    Brasch-Andersen, C; Møller, M U; Haagerup, A

    2008-01-01

    replication sample as used in the present study. The aim of the study was to replicate linkage to candidate regions for asthma in an independent Danish sample. METHODS: We performed a replication study investigating linkage to candidate regions for asthma on chromosomes 1p36.31-p36.21, 5q15-q23.2, 6p24.3-p22...... studies have been carried out the results are still conflicting and call for replication experiments. A Danish genome-wide scan has prior reported evidence for candidate regions for asthma susceptibility genes on chromosomes 1p, 5q, 6p, 12q and Xp. Linkage to chromosome 12q was later confirmed in the same.......3, and Xp22.31-p11.4 using additional markers in an independent set of 136 Danish asthmatic sib pair families. RESULTS: Nonparametric multipoint linkage analyses yielded suggestive evidence for linkage to asthma to chromosome Xp21.2 (MLS 2.92) but failed to replicate linkage to chromosomes 1p36.31-p36.21, 5...

  16. A Causal Model of Linkages between Environment and Organizational Structure, and Its Performance Implications in International Service Distribution: An Empirical Study of Restaurant and Hotel Industry

    Kim, Seehyung

    2005-01-01

    This research develops and tests a model of the service unit ownership and control patterns used by international service companies. The main purpose of this study is to investigate trivariate causal relationships among environmental factors, organizational structure, and perceived performance in the internationalization process of service firms. A service firm operating in foreign soil has a choice of three general entry mode strategies offering different degrees of ownership and control of ...

  17. A study of inter linkage effects on Candu feeder piping

    Li, M.; Aggarwal, M.L.; Meysner, A.

    2005-01-01

    A CANDU (Canadian Deuterium Uranium) reactor core consists of a large number of fuel channels where heat is generated. Two feeder pipes are connected to each fuel channel to transport D 2 O coolant into and out of the reactor core. The feeder piping is designed to the requirements of Class 1 piping of Section III NB of the ASME Boiler and Pressure Vessel and CSA Codes. Feeder piping stress analysis is being performed to demonstrate the code compliance check and the fitness for service of feeders. In the past, stress analyses were conducted for each individual feeder without including interaction effects among connected feeders. Interaction effects occur as a result of linkages that exist between feeders to prevent fretting and impacting damage during normal, abnormal and accident conditions. In this paper, a 'combined' approach is adopted to include all feeders connected by inter linkages into one feeder piping model. MSC/NASTRAN finite element software was used in the stress simulation, which contains up to 127 feeder pipes. The ASME Class 1 piping analysis was conducted to investigate the effects of the linkages between feeders. Both seismic time history and broadened response spectra methods were used in the seismic stress calculation. The results show that the effect of linkages is significant in dynamic stresses for all feeder configurations, as well as in static stresses for certain feeder configurations. The single feeder analysis could either underestimate or overestimate feeder stresses depending on the pipe geometry and bend wall thickness. (authors)

  18. The linkage between knowledge management practices and company Performance: Empirical evidence

    Nausheen Syed

    2013-03-01

    Full Text Available Purpose: This study explores the linkage between Knowledge management practices and company performance. Keeping in view the theoretical and empirical importance, the present study examines the predicting linkage of Knowledge management practices (sharing of best practices and building of consistent process, continues employee learning, effective management of knowledge, innovative culture development, and management of core competencies with company performance.Methodology: The study was carried out on purposively selected sample of 412 employees at different managerial positions. They were administered questionnaires including Knowledge Management Practices and company performance. Data was operated by using SPSS version 20.Correlation and regression analysis was done to establish the relationship between various Knowledge management practices and company performance.Findings: Results of this study illustrated that all selected Knowledge management were positively related to company performance. Based on the findings, and management of core competencies was the strongest predictor of company performance, followed by innovative culture development, effective management of knowledge and sharing of best practices and building of consistent process, continues employee learning.Research limitations/implications: The paper focuses on examining the perceptual impacts of Knowledge management (KM practices on company performance. The interpretation of results should be taken with caution.Value: The aim of this research is to investigate the relationship between Knowledge management and company performance, study the importance of Knowledge management as a source of sustainable competitive advantages for companies and to investigate how the introduction of Knowledge management practices facilitates company performance to improve. The practices that have a more positive influence on company performance are also discussed.

  19. Association between cancer and contact allergy: a linkage study

    Engkilde, Kaare; Thyssen, Jacob P; Menné, Torkil

    2011-01-01

    by logistic regression analysis. Results An inverse association between contact allergy and non-melanoma skin- and breast cancer, respectively, was identified in both sexes, and an inverse trend for brain cancer was found in women with contact allergy. Additionally, a positive association between contact...... and cancer, few have looked into the association between cancer and contact allergy, a type IV allergy. By linking two clinical databases, the authors investigate the possible association between contact allergy and cancer. Methods Record linkage of two different registers was performed: (1) a tertiary...

  20. Probabilistic record linkage.

    Sayers, Adrian; Ben-Shlomo, Yoav; Blom, Ashley W; Steele, Fiona

    2016-06-01

    Studies involving the use of probabilistic record linkage are becoming increasingly common. However, the methods underpinning probabilistic record linkage are not widely taught or understood, and therefore these studies can appear to be a 'black box' research tool. In this article, we aim to describe the process of probabilistic record linkage through a simple exemplar. We first introduce the concept of deterministic linkage and contrast this with probabilistic linkage. We illustrate each step of the process using a simple exemplar and describe the data structure required to perform a probabilistic linkage. We describe the process of calculating and interpreting matched weights and how to convert matched weights into posterior probabilities of a match using Bayes theorem. We conclude this article with a brief discussion of some of the computational demands of record linkage, how you might assess the quality of your linkage algorithm, and how epidemiologists can maximize the value of their record-linked research using robust record linkage methods. © The Author 2015; Published by Oxford University Press on behalf of the International Epidemiological Association.

  1. Evidence for bivariate linkage of obesity and HDL-C levels in the Framingham Heart Study.

    Arya, Rector; Lehman, Donna; Hunt, Kelly J; Schneider, Jennifer; Almasy, Laura; Blangero, John; Stern, Michael P; Duggirala, Ravindranath

    2003-12-31

    Epidemiological studies have indicated that obesity and low high-density lipoprotein (HDL) levels are strong cardiovascular risk factors, and that these traits are inversely correlated. Despite the belief that these traits are correlated in part due to pleiotropy, knowledge on specific genes commonly affecting obesity and dyslipidemia is very limited. To address this issue, we first conducted univariate multipoint linkage analysis for body mass index (BMI) and HDL-C to identify loci influencing variation in these phenotypes using Framingham Heart Study data relating to 1702 subjects distributed across 330 pedigrees. Subsequently, we performed bivariate multipoint linkage analysis to detect common loci influencing covariation between these two traits. We scanned the genome and identified a major locus near marker D6S1009 influencing variation in BMI (LOD = 3.9) using the program SOLAR. We also identified a major locus for HDL-C near marker D2S1334 on chromosome 2 (LOD = 3.5) and another region near marker D6S1009 on chromosome 6 with suggestive evidence for linkage (LOD = 2.7). Since these two phenotypes have been independently mapped to the same region on chromosome 6q, we used the bivariate multipoint linkage approach using SOLAR. The bivariate linkage analysis of BMI and HDL-C implicated the genetic region near marker D6S1009 as harboring a major gene commonly influencing these phenotypes (bivariate LOD = 6.2; LODeq = 5.5) and appears to improve power to map the correlated traits to a region, precisely. We found substantial evidence for a quantitative trait locus with pleiotropic effects, which appears to influence both BMI and HDL-C phenotypes in the Framingham data.

  2. Epidemiological Studies Persian Gulf War Illnesses Persian Gulf Women's Health Linkage Study

    Klemm, Rebecca

    1997-01-01

    The Persian Gulf Women's Health Linkage Study will provide baseline health and risk factor information to estimate the prevalence of selected health conditions, with an emphasis on reproductive health...

  3. Underreporting of maternal mortality in Taiwan: A data linkage study

    Tung-Pi Wu

    2015-12-01

    Conclusion: Approximately two-thirds of the maternal deaths in Taiwan were unreported in the officially published mortality data. Hence, routine nationwide data linkage is essential to monitor maternal mortality in Taiwan accurately.

  4. A Linkage Model of Supply Chain Operation and Financial Performance for Economic Sustainability of Firm

    Suk Ho Jin

    2017-01-01

    Full Text Available Although several studies have explored the relationship between the operation and performance of a supply chain (SC, a general SC model cannot deliver the expected financial results at a company-wide level. In this paper, we argue that this cannot guarantee the maximization of a firm’s overall value because short-term financial performance metrics do not reflect the risk to businesses and the invested capital. Owing to the varying natures of risk and the capital invested, firms with multiple divisions should assess each division separately, and the results can be compared for decisions concerning the allocation of the firm’s capital and resources to maximize the overall value of its businesses. We propose a linkage model to consider operational activities and financial performance simultaneously in a firm’s supply chain model. To exhibit the superiority of the proposed model that connects SC operation and financial indicators, we first compare the differences between models for maximizing profit and enterprise-wise economic value added (EVA as objective functions. To examine uncertainty in the operational and financial parameters of the SC, the results of sensitivity analyses are then reported. Experimental results showed that our model, using the EVA approach, is more effective and superior in terms of maximizing the firm’s overall value from the long-term perspective while satisfying the target values for financial ratios set by the firm’s executives and shareholders for all periods, unlike the results of the general model.

  5. Human resource practices and organisational performance: Can the HRM-performance linkage be explained by the cooperative behaviours of employees?

    Lambooij, Mattijs; Sanders, Karin; Koster, Ferry; Zwiers, Marieke

    2006-01-01

    This paper addresses the question as to whether the linkage between HRM and organisational performance can be explained by the effect of the internal and strategic fit of HRM on the cooperative behaviours of employees. We expect that the more HRM practices are aligned within themselves (internal

  6. Record linkage for pharmacoepidemiological studies in cancer patients.

    Herk-Sukel, Myrthe P P van; Lemmens, Valery E P P; Poll-Franse, Lonneke V van de; Herings, Ron M C; Coebergh, Jan Willem W

    2012-01-01

    An increasing need has developed for the post-approval surveillance of (new) anti-cancer drugs by means of pharmacoepidemiology and outcomes research in the area of oncology. To create an overview that makes researchers aware of the available database linkages in Northern America and Europe which facilitate pharmacoepidemiology and outcomes research in cancer patients. In addition to our own database, i.e. the Eindhoven Cancer Registry (ECR) linked to the PHARMO Record Linkage System, we considered database linkages between a population-based cancer registry and an administrative healthcare database that at least contains information on drug use and offers a longitudinal perspective on healthcare utilization. Eligible database linkages were limited to those that had been used in multiple published articles in English language included in Pubmed. The HMO Cancer Research Network (CRN) in the US was excluded from this review, as an overview of the linked databases participating in the CRN is already provided elsewhere. Researchers who had worked with the data resources included in our review were contacted for additional information and verification of the data presented in the overview. The following database linkages were included: the Surveillance, Epidemiology, and End-Results-Medicare; cancer registry data linked to Medicaid; Canadian cancer registries linked to population-based drug databases; the Scottish cancer registry linked to the Tayside drug dispensing data; linked databases in the Nordic Countries of Europe: Norway, Sweden, Finland and Denmark; and the ECR-PHARMO linkage in the Netherlands. Descriptives of the included database linkages comprise population size, generalizability of the population, year of first data availability, contents of the cancer registry, contents of the administrative healthcare database, the possibility to select a cancer-free control cohort, and linkage to other healthcare databases. The linked databases offer a longitudinal

  7. Health problems in childhood cancer survivors: Linkage studies and guideline development

    Font-Gonzalez, A.

    2016-01-01

    This thesis comprises two parts. The first part of this thesis aims to increase the evidence on the burden of disease in childhood cancer survivors and to define high-risk groups of survivors by using medical record linkage studies. A two-step record linkage methodology between Dutch national

  8. Whole genome study of linkage disequilibrium in Sahiwal cattle

    Esnart Mukumbo

    2017-12-30

    Dec 30, 2017 ... 500,968 SNPs comprising 2518.1 Mb of the genome, were used for the LD estimation. The minior ..... on a high density SNP panel. BMC Genom. ... Linkage disequilibrium and the mapping of complex human traits. Trend.

  9. Quantifying sources of bias in longitudinal data linkage studies of child abuse and neglect: measuring impact of outcome specification, linkage error, and partial cohort follow-up.

    Parrish, Jared W; Shanahan, Meghan E; Schnitzer, Patricia G; Lanier, Paul; Daniels, Julie L; Marshall, Stephen W

    2017-12-01

    Health informatics projects combining statewide birth populations with child welfare records have emerged as a valuable approach to conducting longitudinal research of child maltreatment. The potential bias resulting from linkage misspecification, partial cohort follow-up, and outcome misclassification in these studies has been largely unexplored. This study integrated epidemiological survey and novel administrative data sources to establish the Alaska Longitudinal Child Abuse and Neglect Linkage (ALCANLink) project. Using these data we evaluated and quantified the impact of non-linkage misspecification and single source maltreatment ascertainment use on reported maltreatment risk and effect estimates. The ALCANLink project integrates the 2009-2011 Alaska Pregnancy Risk Assessment Monitoring System (PRAMS) sample with multiple administrative databases through 2014, including one novel administrative source to track out-of-state emigration. For this project we limited our analysis to the 2009 PRAMS sample. We report on the impact of linkage quality, cohort follow-up, and multisource outcome ascertainment on the incidence proportion of reported maltreatment before age 6 and hazard ratios of selected characteristics that are often available in birth cohort linkage studies of maltreatment. Failure to account for out-of-state emigration biased the incidence proportion by 12% (from 28.3% w to 25.2% w ), and the hazard ratio (HR) by as much as 33% for some risk factors. Overly restrictive linkage parameters biased the incidence proportion downwards by 43% and the HR by as much as 27% for some factors. Multi-source linkages, on the other hand, were of little benefit for improving reported maltreatment ascertainment. Using the ALCANLink data which included a novel administrative data source, we were able to observe and quantify bias to both the incidence proportion and HR in a birth cohort linkage study of reported child maltreatment. Failure to account for out

  10. Data linkage in an established longitudinal cohort: the Western Australian Pregnancy Cohort (Raine) Study.

    Mountain, Jenny A; Nyaradi, Anett; Oddy, Wendy H; Glauert, Rebecca A; de Klerk, Nick H; Straker, Leon M; Stanley, Fiona J

    2016-07-15

    The Western Australian Data Linkage System is one of a few comprehensive, population-based data linkage systems worldwide, creating links between information from different sources relating to the same individual, family, place or event, while maintaining privacy. The Raine Study is an established cohort study with more than 2000 currently active participants. Individual consent was obtained from participants for information in publicly held databases to be linked to their study data. A waiver of consent was granted where it was impracticable to obtain consent. Approvals to link the datasets were obtained from relevant ethics committees and data custodians. The Raine Study dataset was subsequently linked to academic testing data collected by the Western Australian Department of Education. Examination of diet and academic performance showed that children who were predominantly breastfed for at least 6 months scored higher academically at age 10 than children who were breastfed for less than 6 months. A further study found that better diet quality at ages 1, 2 and 3 years was associated with higher academic scores at ages 10 and 12 years. Examination of nutritional intake at 14 years of age found that a better dietary pattern was associated with higher academic performance. The detailed longitudinal data collected in the Raine Study allowed for adjustment for multiple covariates and confounders. Data linkage reduces the burden on cohort participants by providing additional information without the need to contact participants. It can give information on participants who have been lost to follow-up; provide or complement missing data; give the opportunity for validation studies comparing recall of participants with administrative records; increase the population sample of studies by adding control participants from the general population; and allow for the adjustment of multiple covariates and confounders. The Raine Study dataset is extensive and detailed, and can be

  11. Genomewide Linkage Scan for Diabetic Renal Failure and Albuminuria: The FIND Study

    Igo, Robert P.; Iyengar, Sudha K.; Nicholas, Susanne B.; Goddard, Katrina A.B.; Langefeld, Carl D.; Hanson, Robert L.; Duggirala, Ravindranath; Divers, Jasmin; Abboud, Hanna; Adler, Sharon G.; Arar, Nedal H.; Horvath, Amanda; Elston, Robert C.; Bowden, Donald W.; Guo, Xiuqing; Ipp, Eli; Kao, W.H. Linda; Kimmel, Paul L.; Knowler, William C.; Meoni, Lucy A.; Molineros, Julio; Nelson, Robert G.; Pahl, Madeline V.; Parekh, Rulan S.; Rasooly, Rebekah S.; Schelling, Jeffrey R.; Shah, Vallabh O.; Smith, Michael W.; Winkler, Cheryl A.; Zager, Philip G.; Sedor, John R.; Freedman, Barry I.

    2011-01-01

    Background Diabetic nephropathy (DN) is a leading cause of mortality and morbidity in patients with type 1 and type 2 diabetes. The multicenter FIND consortium aims to identify genes for DN and its associated quantitative traits, e.g. the urine albumin:creatinine ratio (ACR). Herein, the results of whole-genome linkage analysis and a sparse association scan for ACR and a dichotomous DN phenotype are reported in diabetic individuals. Methods A genomewide scan comprising more than 5,500 autosomal single nucleotide polymorphism markers (average spacing of 0.6 cM) was performed on 1,235 nuclear and extended pedigrees (3,972 diabetic participants) ascertained for DN from African-American (AA), American-Indian (AI), European-American (EA) and Mexican-American (MA) populations. Results Strong evidence for linkage to DN was detected on chromosome 6p (p = 8.0 × 10−5, LOD = 3.09) in EA families as well as suggestive evidence for linkage to chromosome 7p in AI families. Regions on chromosomes 3p in AA, 7q in EA, 16q in AA and 22q in MA displayed suggestive evidence of linkage for urine ACR. The linkage peak on chromosome 22q overlaps the MYH9/APOL1 gene region, previously implicated in AA diabetic and nondiabetic nephropathies. Conclusion These results strengthen the evidence for previously identified genomic regions and implicate several novel loci potentially involved in the pathogenesis of DN. PMID:21454968

  12. Linkage studies on Gilles de la Tourette syndrome: What is the strategy of choice?

    Heutink, P.; Wetering, J.M. van de; Oostra, B.A. [Erasmus Univ. Rotterdam (Netherlands)] [and others

    1995-08-01

    For a linkage study it is important to ascertain family material that is sufficiently informative. The statistical power of linkage sample can be determined via computer simulation. For complex traits uncertain parameters such as incomplete penetrance, frequency of phenocopies, gene frequency and variable expression have to be taken into account. One can either include only the most severe phenotype in the analysis or apply multiple linkage tests for a gradually broadened disease phenotype. Gilles de la Tourette syndrome (GTS) is a chronic neurological disorder characterized by multiple, intermittent motor and vocal tics. Segregation analyses suggests that GTS and milder phenotypes are caused by a single dominant gene. We report here the results of an extensive simulation study on a large set of families. We compared the effectiveness of linkage tests with only the GTS phenotype versus multiple tests that included various milder phenotypes and different gene frequencies. The scenario of multiple tests yielded superior power. Our results show that computer simulation can indicate the strategy of choice in linkage studies of multiple, complex phenotypes. 33 refs., 2 figs., 3 tabs.

  13. Irish study of high-density Schizophrenia families: Field methods and power to detect linkage

    Kendler, K.S.; Straub, R.E.; MacLean, C.J. [Virginia Commonwealth Univ., Richmond, VA (United States)] [and others

    1996-04-09

    Large samples of multiplex pedigrees will probably be needed to detect susceptibility loci for schizophrenia by linkage analysis. Standardized ascertainment of such pedigrees from culturally and ethnically homogeneous populations may improve the probability of detection and replication of linkage. The Irish Study of High-Density Schizophrenia Families (ISHDSF) was formed from standardized ascertainment of multiplex schizophrenia families in 39 psychiatric facilities covering over 90% of the population in Ireland and Northern Ireland. We here describe a phenotypic sample and a subset thereof, the linkage sample. Individuals were included in the phenotypic sample if adequate diagnostic information, based on personal interview and/or hospital record, was available. Only individuals with available DNA were included in the linkage sample. Inclusion of a pedigree into the phenotypic sample required at least two first, second, or third degree relatives with non-affective psychosis (NAP), one of whom had schizophrenia (S) or poor-outcome schizoaffective disorder (PO-SAD). Entry into the linkage sample required DNA samples on at least two individuals with NAP, of whom at least one had S or PO-SAD. Affection was defined by narrow, intermediate, and broad criteria. 75 refs., 6 tabs.

  14. Meta-analysis of 32 genome-wide linkage studies of schizophrenia

    Ng, MYM; Levinson, DF; Faraone, SV; Suarez, BK; DeLisi, LE; Arinami, T; Riley, B; Paunio, T; Pulver, AE; Irmansyah; Holmans, PA; Escamilla, M; Wildenauer, DB; Williams, NM; Laurent, C; Mowry, BJ; Brzustowicz, LM; Maziade, M; Sklar, P; Garver, DL; Abecasis, GR; Lerer, B; Fallin, MD; Gurling, HMD; Gejman, PV; Lindholm, E; Moises, HW; Byerley, W; Wijsman, EM; Forabosco, P; Tsuang, MT; Hwu, H-G; Okazaki, Y; Kendler, KS; Wormley, B; Fanous, A; Walsh, D; O’Neill, FA; Peltonen, L; Nestadt, G; Lasseter, VK; Liang, KY; Papadimitriou, GM; Dikeos, DG; Schwab, SG; Owen, MJ; O’Donovan, MC; Norton, N; Hare, E; Raventos, H; Nicolini, H; Albus, M; Maier, W; Nimgaonkar, VL; Terenius, L; Mallet, J; Jay, M; Godard, S; Nertney, D; Alexander, M; Crowe, RR; Silverman, JM; Bassett, AS; Roy, M-A; Mérette, C; Pato, CN; Pato, MT; Roos, J Louw; Kohn, Y; Amann-Zalcenstein, D; Kalsi, G; McQuillin, A; Curtis, D; Brynjolfson, J; Sigmundsson, T; Petursson, H; Sanders, AR; Duan, J; Jazin, E; Myles-Worsley, M; Karayiorgou, M; Lewis, CM

    2009-01-01

    A genome scan meta-analysis (GSMA) was carried out on 32 independent genome-wide linkage scan analyses that included 3255 pedigrees with 7413 genotyped cases affected with schizophrenia (SCZ) or related disorders. The primary GSMA divided the autosomes into 120 bins, rank-ordered the bins within each study according to the most positive linkage result in each bin, summed these ranks (weighted for study size) for each bin across studies and determined the empirical probability of a given summed rank (PSR) by simulation. Suggestive evidence for linkage was observed in two single bins, on chromosomes 5q (142-168 Mb) and 2q (103-134 Mb). Genome-wide evidence for linkage was detected on chromosome 2q (119-152 Mb) when bin boundaries were shifted to the middle of the previous bins. The primary analysis met empirical criteria for ‘aggregate’ genome-wide significance, indicating that some or all of 10 bins are likely to contain loci linked to SCZ, including regions of chromosomes 1, 2q, 3q, 4q, 5q, 8p and 10q. In a secondary analysis of 22 studies of European-ancestry samples, suggestive evidence for linkage was observed on chromosome 8p (16-33 Mb). Although the newer genome-wide association methodology has greater power to detect weak associations to single common DNA sequence variants, linkage analysis can detect diverse genetic effects that segregate in families, including multiple rare variants within one locus or several weakly associated loci in the same region. Therefore, the regions supported by this meta-analysis deserve close attention in future studies. PMID:19349958

  15. Validation of de-identified record linkage to ascertain hospital admissions in a cohort study

    English Dallas R

    2011-04-01

    Full Text Available Abstract Background Cohort studies can provide valuable evidence of cause and effect relationships but are subject to loss of participants over time, limiting the validity of findings. Computerised record linkage offers a passive and ongoing method of obtaining health outcomes from existing routinely collected data sources. However, the quality of record linkage is reliant upon the availability and accuracy of common identifying variables. We sought to develop and validate a method for linking a cohort study to a state-wide hospital admissions dataset with limited availability of unique identifying variables. Methods A sample of 2000 participants from a cohort study (n = 41 514 was linked to a state-wide hospitalisations dataset in Victoria, Australia using the national health insurance (Medicare number and demographic data as identifying variables. Availability of the health insurance number was limited in both datasets; therefore linkage was undertaken both with and without use of this number and agreement tested between both algorithms. Sensitivity was calculated for a sub-sample of 101 participants with a hospital admission confirmed by medical record review. Results Of the 2000 study participants, 85% were found to have a record in the hospitalisations dataset when the national health insurance number and sex were used as linkage variables and 92% when demographic details only were used. When agreement between the two methods was tested the disagreement fraction was 9%, mainly due to "false positive" links when demographic details only were used. A final algorithm that used multiple combinations of identifying variables resulted in a match proportion of 87%. Sensitivity of this final linkage was 95%. Conclusions High quality record linkage of cohort data with a hospitalisations dataset that has limited identifiers can be achieved using combinations of a national health insurance number and demographic data as identifying variables.

  16. A new method of linkage analysis using LOD scores for quantitative traits supports linkage of monoamine oxidase activity to D17S250 in the Collaborative Study on the Genetics of Alcoholism pedigrees.

    Curtis, David; Knight, Jo; Sham, Pak C

    2005-09-01

    Although LOD score methods have been applied to diseases with complex modes of inheritance, linkage analysis of quantitative traits has tended to rely on non-parametric methods based on regression or variance components analysis. Here, we describe a new method for LOD score analysis of quantitative traits which does not require specification of a mode of inheritance. The technique is derived from the MFLINK method for dichotomous traits. A range of plausible transmission models is constructed, constrained to yield the correct population mean and variance for the trait but differing with respect to the contribution to the variance due to the locus under consideration. Maximized LOD scores under homogeneity and admixture are calculated, as is a model-free LOD score which compares the maximized likelihoods under admixture assuming linkage and no linkage. These LOD scores have known asymptotic distributions and hence can be used to provide a statistical test for linkage. The method has been implemented in a program called QMFLINK. It was applied to data sets simulated using a variety of transmission models and to a measure of monoamine oxidase activity in 105 pedigrees from the Collaborative Study on the Genetics of Alcoholism. With the simulated data, the results showed that the new method could detect linkage well if the true allele frequency for the trait was close to that specified. However, it performed poorly on models in which the true allele frequency was much rarer. For the Collaborative Study on the Genetics of Alcoholism data set only a modest overlap was observed between the results obtained from the new method and those obtained when the same data were analysed previously using regression and variance components analysis. Of interest is that D17S250 produced a maximized LOD score under homogeneity and admixture of 2.6 but did not indicate linkage using the previous methods. However, this region did produce evidence for linkage in a separate data set

  17. Genome-Wide Association Study and Linkage Analysis of the Healthy Aging Index

    Minster, Ryan L; Sanders, Jason L; Singh, Jatinder

    2015-01-01

    BACKGROUND: The Healthy Aging Index (HAI) is a tool for measuring the extent of health and disease across multiple systems. METHODS: We conducted a genome-wide association study and a genome-wide linkage analysis to map quantitative trait loci associated with the HAI and a modified HAI weighted...

  18. Overview of surface study of fusion research in universities linkage organization, (2)

    Miyahara, Akira; Kamada, Kohji; Yamashina, Toshiro.

    1981-02-01

    Overview of surface material developments for fusion devices in university linkage organization has been described. Including subjects are surface properties investigations, surface diagnostics, coating technologies tritium related surface problems and permeation studies. Because surface material investigations are wide spread subjects, necessities of problem definitions from plasma physics side were recognized. (author)

  19. Meta-analysis of genome-wide linkage studies in BMI and obesity

    Saunders, Catherine L.; Chiodini, Benedetta D.; Sham, Pak; Lewis, Cathryn M.; Abkevich, Victor; Adeyemo, Adebowale A.; de Andrade, Mariza; Arya, Rector; Berenson, Gerald S.; Blangero, John; Boehnke, Michael; Borecki, Ingrid B.; Chagnon, Yvon C.; Chen, Wei; Comuzzie, Anthony G.; Deng, Hong-Wen; Duggirala, Ravindranath; Feitosa, Mary F.; Froguel, Philippe; Hanson, Robert L.; Hebebrand, Johannes; Huezo-Dias, Patricia; Kissebah, Ahmed H.; Li, Weidong; Luke, Amy; Martin, Lisa J.; Nash, Matthew; Ohman, Muena; Palmer, Lyle J.; Peltonen, Leena; Perola, Markus; Price, R. Arlen; Redline, Susan; Srinivasan, Sathanur R.; Stern, Michael P.; Stone, Steven; Stringham, Heather; Turner, Stephen; Wijmenga, Cisca; Collier, David A.

    Objective: The objective was to provide an overall assessment of genetic linkage data of BMI and BMI-defined obesity using a nonparametric genome scan meta-analysis. Research Methods and Procedures: We identified 37 published studies containing data on over 31,000 individuals from more than >10,000

  20. Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis

    Riess, O; Weber, B; Nørremølle, Anne

    1992-01-01

    as to whether mutations in the human PDEB gene might cause LCA. We have previously cloned and characterized the human homologue of the mouse Pdeb gene and have mapped it to chromosome 4p16.3. In this study, a total of 23 LCA families of various ethnic backgrounds have been investigated. Linkage analysis using...

  1. Young people’s views about consenting to data linkage: findings from the PEARL qualitative study

    Suzanne Audrey

    2016-03-01

    Full Text Available Abstract Background Electronic administrative data exist in several domains which, if linked, are potentially useful for research. However, benefits from data linkage should be considered alongside risks such as the threat to privacy. Avon Longitudinal Study of Parents and Children (ALSPAC is a birth cohort study. The Project to Enhance ALSPAC through Record Linkage (PEARL was established to enrich the ALSPAC resource through linkage between ALSPAC participants and routine sources of health and social data. Qualitative research was incorporated in the PEARL study to examine participants’ views about data linkage and inform approaches to information sharing. This paper focusses on issues of consent. Methods Digitally recorded interviews were conducted with 55 participants aged 17–19 years. Terms and processes relating to consent, anonymization and data linkage were explained to interviewees. Scenarios were used to prompt consideration of linking different sources of data, and whether consent should be requested. Interview recordings were fully transcribed. Thematic analysis was undertaken using the Framework approach. Results Participant views on data linkage appeared to be most influenced by: considerations around the social sensitivity of the research question, and; the possibility of tangible health benefits in the public interest. Some participants appeared unsure about the effectiveness of anonymization, or did not always view effective anonymization as making consent unnecessary. This was related to notions of ownership of personal information and etiquette around asking permission for secondary use. Despite different consent procedures being explained, participants tended to equate consent with ‘opt-in’ consent through which participants are ‘asked’ if their data can be used for a specific study. Participants raising similar concerns came to differing conclusions about whether consent was needed. Views changed when presented

  2. Young people's views about consenting to data linkage: findings from the PEARL qualitative study.

    Audrey, Suzanne; Brown, Lindsey; Campbell, Rona; Boyd, Andy; Macleod, John

    2016-03-21

    Electronic administrative data exist in several domains which, if linked, are potentially useful for research. However, benefits from data linkage should be considered alongside risks such as the threat to privacy. Avon Longitudinal Study of Parents and Children (ALSPAC) is a birth cohort study. The Project to Enhance ALSPAC through Record Linkage (PEARL) was established to enrich the ALSPAC resource through linkage between ALSPAC participants and routine sources of health and social data. Qualitative research was incorporated in the PEARL study to examine participants' views about data linkage and inform approaches to information sharing. This paper focusses on issues of consent. Digitally recorded interviews were conducted with 55 participants aged 17-19 years. Terms and processes relating to consent, anonymization and data linkage were explained to interviewees. Scenarios were used to prompt consideration of linking different sources of data, and whether consent should be requested. Interview recordings were fully transcribed. Thematic analysis was undertaken using the Framework approach. Participant views on data linkage appeared to be most influenced by: considerations around the social sensitivity of the research question, and; the possibility of tangible health benefits in the public interest. Some participants appeared unsure about the effectiveness of anonymization, or did not always view effective anonymization as making consent unnecessary. This was related to notions of ownership of personal information and etiquette around asking permission for secondary use. Despite different consent procedures being explained, participants tended to equate consent with 'opt-in' consent through which participants are 'asked' if their data can be used for a specific study. Participants raising similar concerns came to differing conclusions about whether consent was needed. Views changed when presented with different scenarios, and were sometimes inconsistent. Findings

  3. Accuracy of Probabilistic Linkage Using the Enhanced Matching System for Public Health and Epidemiological Studies.

    Aldridge, Robert W; Shaji, Kunju; Hayward, Andrew C; Abubakar, Ibrahim

    2015-01-01

    The Enhanced Matching System (EMS) is a probabilistic record linkage program developed by the tuberculosis section at Public Health England to match data for individuals across two datasets. This paper outlines how EMS works and investigates its accuracy for linkage across public health datasets. EMS is a configurable Microsoft SQL Server database program. To examine the accuracy of EMS, two public health databases were matched using National Health Service (NHS) numbers as a gold standard unique identifier. Probabilistic linkage was then performed on the same two datasets without inclusion of NHS number. Sensitivity analyses were carried out to examine the effect of varying matching process parameters. Exact matching using NHS number between two datasets (containing 5931 and 1759 records) identified 1071 matched pairs. EMS probabilistic linkage identified 1068 record pairs. The sensitivity of probabilistic linkage was calculated as 99.5% (95%CI: 98.9, 99.8), specificity 100.0% (95%CI: 99.9, 100.0), positive predictive value 99.8% (95%CI: 99.3, 100.0), and negative predictive value 99.9% (95%CI: 99.8, 100.0). Probabilistic matching was most accurate when including address variables and using the automatically generated threshold for determining links with manual review. With the establishment of national electronic datasets across health and social care, EMS enables previously unanswerable research questions to be tackled with confidence in the accuracy of the linkage process. In scenarios where a small sample is being matched into a very large database (such as national records of hospital attendance) then, compared to results presented in this analysis, the positive predictive value or sensitivity may drop according to the prevalence of matches between databases. Despite this possible limitation, probabilistic linkage has great potential to be used where exact matching using a common identifier is not possible, including in low-income settings, and for vulnerable

  4. Leather Industry Business Linkages (Case Study in District Magetan)

    Dilahur Dilahur

    2004-01-01

    Leather industry in Magetan covers two forms; they are tanning and leathercraft. During 1960 and 1970, the leather industry decreased in its production, but in 1990 Magetan becomes the center of leather industry. Its development appeals to be studied closely. The goals of this study are to know the relation between tanning and leathercraft, the connection between these industries and other economic ativities, and their connection with production factor. This study uses survey methhod. The res...

  5. Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

    Gonzalez-Neira Anna

    2007-08-01

    Full Text Available Abstract Background The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search for new candidate genes involved in heredity diseases. The two major breast cancer susceptibility genes BRCA1 and BRCA2 are involved in 30% of hereditary breast cancer cases, but the discovery of additional breast cancer predisposition genes for the non-BRCA1/2 breast cancer families has so far been unsuccessful. Results In order to evaluate the power improvement provided by using SNP markers in a real situation, we have performed a whole genome screen of 19 non-BRCA1/2 breast cancer families using 4720 genomewide SNPs with Illumina technology (Illumina's Linkage III Panel, with an average distance of 615 Kb/SNP. We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. These results were consistent in analyses that excluded SNPs in high linkage disequilibrium. The results were compared with those obtained previously using a 10 cM microsatellite scan (STR-GWS and we found lower or not significant linkage signals with STR-GWS data compared to SNP data in all cases. Conclusion Our results show the power increase that SNPs can supply in linkage studies.

  6. Meta-analysis of genome-wide linkage studies in BMI and obesity.

    Saunders, Catherine L; Chiodini, Benedetta D; Sham, Pak; Lewis, Cathryn M; Abkevich, Victor; Adeyemo, Adebowale A; de Andrade, Mariza; Arya, Rector; Berenson, Gerald S; Blangero, John; Boehnke, Michael; Borecki, Ingrid B; Chagnon, Yvon C; Chen, Wei; Comuzzie, Anthony G; Deng, Hong-Wen; Duggirala, Ravindranath; Feitosa, Mary F; Froguel, Philippe; Hanson, Robert L; Hebebrand, Johannes; Huezo-Dias, Patricia; Kissebah, Ahmed H; Li, Weidong; Luke, Amy; Martin, Lisa J; Nash, Matthew; Ohman, Miina; Palmer, Lyle J; Peltonen, Leena; Perola, Markus; Price, R Arlen; Redline, Susan; Srinivasan, Sathanur R; Stern, Michael P; Stone, Steven; Stringham, Heather; Turner, Stephen; Wijmenga, Cisca; Collier, David A

    2007-09-01

    The objective was to provide an overall assessment of genetic linkage data of BMI and BMI-defined obesity using a nonparametric genome scan meta-analysis. We identified 37 published studies containing data on over 31,000 individuals from more than >10,000 families and obtained genome-wide logarithm of the odds (LOD) scores, non-parametric linkage (NPL) scores, or maximum likelihood scores (MLS). BMI was analyzed in a pooled set of all studies, as a subgroup of 10 studies that used BMI-defined obesity, and for subgroups ascertained through type 2 diabetes, hypertension, or subjects of European ancestry. Bins at chromosome 13q13.2- q33.1, 12q23-q24.3 achieved suggestive evidence of linkage to BMI in the pooled analysis and samples ascertained for hypertension. Nominal evidence of linkage to these regions and suggestive evidence for 11q13.3-22.3 were also observed for BMI-defined obesity. The FTO obesity gene locus at 16q12.2 also showed nominal evidence for linkage. However, overall distribution of summed rank p values <0.05 is not different from that expected by chance. The strongest evidence was obtained in the families ascertained for hypertension at 9q31.1-qter and 12p11.21-q23 (p < 0.01). Despite having substantial statistical power, we did not unequivocally implicate specific loci for BMI or obesity. This may be because genes influencing adiposity are of very small effect, with substantial genetic heterogeneity and variable dependence on environmental factors. However, the observation that the FTO gene maps to one of the highest ranking bins for obesity is interesting and, while not a validation of this approach, indicates that other potential loci identified in this study should be investigated further.

  7. Surface study of fusion research in universities linkage organization

    Miyahara, Akira.

    1980-04-01

    The surface studies for nuclear fusion research consist of the studies on the surface process and the surface damage. The problems with the surface study are different at different research stages. The plasma-wall interaction in the ignition stage is mainly concerned with heating. The impurity control becomes important in the breakeven stage. In the longer burn experiment, the problems of plasma contamination and ash accumulation are serious, and the blistering is also a problem. From the reactor aspect, the reduction of life of wall due to the irradiation of high fluence must be considered. The surface damage due to plasma disruption is a very big problem. The activities concerning the surface studies in university-linked organizations are the surface characterization for fusion reactor materials by low energy ion scattering spectroscopy, the high power ion irradiation test for CTR first wall, data compilation on plasma-wall interaction, the studies of sputtering process and surface coating, and the study on hydrogen isotope permeation through metals for fusion reactors. Other activities such as the sample characterization at many universities using the SUS 304 samples from the same lot, and the collaboration works on JIPP-T-2 plasma wall experiments are introduced. Concerning the surface study, US-Japan or international collaboration are strongly expected. (Kato, T.)

  8. Leather Industry Business Linkages (Case Study in District Magetan

    Dilahur Dilahur

    2004-01-01

    Full Text Available Leather industry in Magetan covers two forms; they are tanning and leathercraft. During 1960 and 1970, the leather industry decreased in its production, but in 1990 Magetan becomes the center of leather industry. Its development appeals to be studied closely. The goals of this study are to know the relation between tanning and leathercraft, the connection between these industries and other economic ativities, and their connection with production factor. This study uses survey methhod. The respondents are taken proportionally from both of those leather industries. The data is obtained inetrviewing the respondents with questionnaire that related to the input and out put of the industry. The result of this study shows that there is no relationship between the kind of industries (small and household industry and its capital, especially in its raw material (44,44%. The relationship between tanning and leathercraft is low, because it is only 24,2% input of leathercraft which taken from output of tanning. The region relationship for tanning is larger, because the products that are sold to other regions are 97,22% for tanning and 68,29% for leathercraft. Its relationship to other sectors especially for labour supply is 56,48% from farming and trade sectors in marketing.

  9. DEVELOPMENT OF ENZYME-LINKAGE IMMUNOSORBENT ASSAY AGAINST TYPE B OF CLOSTRIDIUM BOTULINUM: A PRELIMINARY STUDY

    S. N. Depamede

    2011-12-01

    Full Text Available Clostridium botulinum neurotoxin (BoNTs is one of the causes of economic loss in the livestock industry. This economic loss would be as a direct result when animals poisoned by BoNTs or indirectly when the livestock products are contaminated by BoNTs, which end up with the products are banned by authority. Therefore a routine surveillance of BoNTs in the farm and in livestock product processing industry is urgently needed. One of the most relatively quick and accurate methods to perform a routine detection of the presence of BoNTs is enzyme-linkage immunosorbant assay (ELISA. In this article we describe the results of the development of ELISA, using polyclonal antibodies against BoNTs-B produced locally. Antibodies were generated from six Balb/c mice with standard immunological methods. Mice were immunized three times for a period of 8 weeks with a commercial type B Clostridium botulinum toxoid at a dose of 100 ng per mouse per injection. The resulting antibody was purified by a combination of ammonium sulfate precipitation 50% (w/v technique and a protein A column method. The results of this preliminary study indicated that the developed ELISA method capable of detecting type B Clostridium botulinum toxin up to 1.0 ng/ml.

  10. A genome-wide linkage study of bipolar disorder and co-morbid migraine

    Oedegaard, K. J.; Greenwood, T. A.; Lunde, Asger

    2010-01-01

    Migraine and Bipolar Disorder (BPAD) are clinically heterogeneous disorders of the brain with a significant, but complex, genetic component. Epidemiological and clinical studies have demonstrated a high degree of co-morbidity between migraine and BPAD. Several genomewide linkage studies in BPAD...... that using migraine comorbidity to look at subsets of BPAD families in a genetic linkage analysis would prove useful in identifying genetic susceptibility regions in both of these disorders. We used BPAD with comorbid migraine as an alternative phenotype definition in a re-analysis of the NIMH Bipolar...... osome 4 (not co-segregating with BPAD) in a sample of BPAD families with comorbid migraine, and suggest a susceptibility locus on chromosome 20, harboring a gene for the migraine/BPAD phenotype. Together these data suggest that some genes may predispose to both bipolar disorder and migraine....

  11. Young people’s views about consenting to data linkage: Findings from the PEARL qualitative study

    Suzanne Audrey

    2017-04-01

    Findings from this study question the validity of ‘informed consent’ as a cornerstone of good governance, and the extent to which potential research participants understand different types of consent and what they are consenting, or not consenting, to. Pragmatic, imaginative and flexible approaches are needed if research using data linkage is to successfully realise its potential for public good without undermining public trust in the research process.

  12. Historical measures of social context in life course studies: retrospective linkage of addresses to decennial censuses

    Whitsel Eric A

    2004-11-01

    Full Text Available Abstract Background There is evidence of a contribution of early life socioeconomic exposures to the risk of chronic diseases in adulthood. However, extant studies investigating the impact of the neighborhood social environment on health tend to characterize only the current social environment. This in part may be due to complexities involved in obtaining and geocoding historical addresses. The Life Course Socioeconomic Status, Social Context, and Cardiovascular Disease Study collected information on childhood (1930–1950 and early adulthood (1960–1980 place of residence from 12,681 black and white middle-aged and older men and women from four U.S. communities to link participants with census-based socioeconomic indicators over the life course. Results Most (99% participants were linked to 1930–50 county level socioeconomic census data (the smallest level of aggregation universally available during this time period corresponding to childhood place of residence. Linkage did not vary by race, gender, birth cohort, or level of educational attainment. A commercial geocoding vendor processed participants' self-reported street addresses for ages 30, 40, and 50. For 1970 and 1980 censuses, spatial coordinates were overlaid onto shape files containing census tract boundaries; for 1960 no shape files existed and comparability files were used. Several methods were tested for accuracy and to increase linkage. Successful linkage to historical census tracts varied by census (66% for 1960, 76% for 1970, 85% for 1980. This compares to linkage rates of 94% for current addresses provided by participants over the course of the ARIC examinations. Conclusion There are complexities and limitations in characterizing the past social context. However, our results suggest that it is feasible to characterize the earlier social environment with known levels of measurement error and that such an approach should be considered in future studies.

  13. Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

    Yi-Ju Li

    Full Text Available Fuchs endothelial corneal dystrophy (FECD is a common, late-onset disorder of the corneal endothelium. Although progress has been made in understanding the genetic basis of FECD by studying large families in which the phenotype is transmitted in an autosomal dominant fashion, a recently reported genome-wide association study identified common alleles at a locus on chromosome 18 near TCF4 which confer susceptibility to FECD. Here, we report the findings of our independent validation study for TCF4 using the largest FECD dataset to date (450 FECD cases and 340 normal controls. Logistic regression with sex as a covariate was performed for three genetic models: dominant (DOM, additive (ADD, and recessive (REC. We found significant association with rs613872, the target marker reported by Baratz et al.(2010, for all three genetic models (DOM: P = 9.33×10(-35; ADD: P = 7.48×10(-30; REC: P = 5.27×10(-6. To strengthen the association study, we also conducted a genome-wide linkage scan on 64 multiplex families, composed primarily of affected sibling pairs (ASPs, using both parametric and non-parametric two-point and multipoint analyses. The most significant linkage region localizes to chromosome 18 from 69.94cM to 85.29cM, with a peak multipoint HLOD = 2.5 at rs1145315 (75.58cM under the DOM model, mapping 1.5 Mb proximal to rs613872. In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies.

  14. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

    Edwards, M.J.; Roberts, J.; Partington, M.W. [Newcastle and Northern New South Wales Genetics Service (Australia); Colley, P.W. [John Hunter Hospital, Newcastle (Australia); Hollway, G.E.; Kozman, H.M.; Mulley, J.C. [Adelaide Children`s Hospital, North Adelaide (Australia)

    1994-10-15

    Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. 25 refs., 6 figs., 2 tabs.

  15. A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.

    Silva, Claudia T; Zorkoltseva, Irina V; Amin, Najaf; Demirkan, Ayşe; van Leeuwen, Elisabeth M; Kors, Jan A; van den Berg, Marten; Stricker, Bruno H; Uitterlinden, André G; Kirichenko, Anatoly V; Witteman, Jacqueline C M; Willemsen, Rob; Oostra, Ben A; Axenovich, Tatiana I; van Duijn, Cornelia M; Isaacs, Aaron

    2016-01-01

    Electrocardiogram (ECG) measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies of these phenotypes have been successful in identifying common variants; however, a large proportion of the genetic variability of these traits remains to be elucidated. The aim of this study was to discover loci potentially harboring rare variants utilizing variance component linkage analysis in 1547 individuals from a large family-based study, the Erasmus Rucphen Family Study (ERF). Linked regions were further explored using exome sequencing. Five suggestive linkage peaks were identified: two for QT interval (1q24, LOD = 2.63; 2q34, LOD = 2.05), one for QRS interval (1p35, LOD = 2.52) and two for PR interval (9p22, LOD = 2.20; 14q11, LOD = 2.29). Fine-mapping using exome sequence data identified a C > G missense variant (c.713C > G, p.Ser238Cys) in the FCRL2 gene associated with QT (rs74608430; P = 2.8 × 10 -4 , minor allele frequency = 0.019). Heritability analysis demonstrated that the SNP explained 2.42% of the trait's genetic variability in ERF ( P = 0.02). Pathway analysis suggested that the gene is involved in cytosolic Ca 2+ levels ( P = 3.3 × 10 -3 ) and AMPK stimulated fatty acid oxidation in muscle ( P = 4.1 × 10 -3 ). Look-ups in bioinformatics resources showed that expression of FCRL2 is associated with ARHGAP24 and SETBP1 expression. This finding was not replicated in the Rotterdam study. Combining the bioinformatics information with the association and linkage analyses, FCRL2 emerges as a strong candidate gene for QT interval.

  16. A combined linkage and exome sequencing analysis for electrocardiogram parameters in the Erasmus Rucphen Family study

    Claudia Tamar Silva

    2016-11-01

    Full Text Available Electrocardiogram (ECG measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies (GWAS of these phenotypes have been successful in identifying common variants; however, a large proportion of the genetic variability of these traits remains to be elucidated. The aim of this study was to discover loci potentially harboring rare variants utilizing variance component linkage analysis in 1547 individuals from a large family-based study, the Erasmus Rucphen Family Study (ERF. Linked regions were further explored using exome sequencing. Five suggestive linkage peaks were identified: two for QT interval (1q24, LOD = 2.63; 2q34, LOD = 2.05, one for QRS interval (1p35, LOD = 2.52 and two for PR interval (9p22, LOD = 2.20; 14q11, LOD = 2.29. Fine-mapping using exome sequence data identified a C > G missense variant (c.713C>G, p.Ser238Cys in the FCRL2 gene associated with QT (rs74608430; P = 2.8 ×10-4, minor allele frequency = 0.019. Heritability analysis demonstrated that the SNP explained 2.42% of the trait’s genetic variability in ERF (P = 0.02. Pathway analysis suggested that the gene is involved in cytosolic Ca2+ levels (P = 3.3 × 10-3 and AMPK stimulated fatty acid oxidation in muscle (P = 4.1 ×10-3. Look-ups in bioinformatics resources showed that expression of FCRL2 is associated with ARHGAP24 and SETBP1 expression. This finding was not replicated in the Rotterdam study. Combining the bioinformatics information with the association and linkage analyses, FCRL2 emerges as a strong candidate gene for QT interval.

  17. Do coxibs reduce prescription of gastroprotective agents? Results of a record linkage study

    Violante Andrea

    2006-03-01

    Full Text Available Abstract Background Coxibs are claimed to be cost-effective drugs and reduced prescription of gastroprotective agents is assumed to be one of their major benefits. Real life prescription of these drugs may be substantially different than that considered in pharmacoeconomic analyses or claimed by drug companies, yet. Our objective was to evaluate whether coxibs were associated with reduced prescription of gastro-protective agents (GPAs, specifically proton pump inhibitors, H2 blockers and misoprostol compared to non selective NSAIDs. Methods A record-linkage study was performed using 2001 outpatient prescription data from the province of Modena (about 632,000 inhabitants, in Northern Italy. Logistic regression was used to calculate the odds ratio of GPA prescription for coxib and non-selective NSAID adult users (> 14 years. Three categories of users were further investigated: "acute", "chronic and "incident or new". Main outcome measures were same-day co-prescription and 30 days prescription of GPAs in coxibs and non selective NSAIDs users. To limit selection bias, data were adjusted for age, sex, DDD of coxibs and non selective NSAIDs received during 2001, DDD of GPAs and (for non-incident users DDD of NSAIDs received during the previous 4 years Results Same day co-prescription rates were similar considering the overall population and "acute" users. Chronic coxibs users instead showed higher co-prescription rates than chronic NSAIDs users (OR = 1.2, p Conclusion Assumptions made in pharmacoeconomic analyses on coxibs (lower GPA prescription associated with coxibs use may be overly optimistic. Claims made through cost-effectiveness data should be carefully interpreted, and mechanisms for attributing drug prices revised accordingly.

  18. T-cell receptor variable genes and genetic susceptibility to celiac disease: an association and linkage study.

    Roschmann, E; Wienker, T F; Gerok, W; Volk, B A

    1993-12-01

    Genetic susceptibility of celiac disease is primarily associated with a particular combination of and HLA-DQA1/DQB1 gene; however, this does not fully account for the genetic predisposition. Therefore, the aim of this study was to examine whether T-cell receptor (TCR) genes may be susceptibility genes in celiac disease. HLA class II typing was performed by polymerase chain reaction amplification in combination with sequence-specific oligonucleotide hybridization. TCR alpha (TCRA), TCR gamma (TCRG), and TCR beta (TCRB) loci were investigated by restriction fragment length polymorphism analysis. Allelic frequencies of TCRA, TCRG, and TCRB variable genes were compared between patients with celiac disease (n = 53) and control patients (n = 67), and relative risk (RR) estimates were calculated. The RR was 1.67 for allele C1 at TCRA1, 3.35 for allele D2 at TCRA2, 1.66 for allele B2 at TCRG, and 1.35 for allele B at TCRB, showing no significant association. Additionally, linkage analysis was performed in 23 families. The logarithm of odd scores for celiac disease vs. the TCR variable genes at TCRA, TCRG, and TCRB showed no significant linkage. These data suggest that the analyzed TCR variable gene segments V alpha 1.2, V gamma 11, and V beta 8 do not play a major role in susceptibility to celiac disease.

  19. Testing association and linkage using affected-sib-parent study designs.

    Millstein, Joshua; Siegmund, Kimberly D; Conti, David V; Gauderman, W James

    2005-11-01

    We have developed a method for jointly testing linkage and association using data from affected sib pairs and their parents. We specify a conditional logistic regression model with two covariates, one that quantifies association (either direct association or indirect association via linkage disequilibrium), and a second that quantifies linkage. The latter covariate is computed based on expected identity-by-descend (ibd) sharing of marker alleles between siblings. In addition to a joint test of linkage and association, our general framework can be used to obtain a linkage test comparable to the mean test (Blackwelder and Elston [1985] Genet. Epidemiol. 2:85-97), and an association test comparable to the Family-Based Association Test (FBAT; Rabinowitz and Laird [2000] Hum. Hered. 50:211-223). We present simulation results demonstrating that our joint test can be more powerful than some standard tests of linkage or association. For example, with a relative risk of 2.7 per variant allele at a disease locus, the estimated power to detect a nearby marker with a modest level of LD was 58.1% by the mean test (linkage only), 69.8% by FBAT, and 82.5% by our joint test of linkage and association. Our model can also be used to obtain tests of linkage conditional on association and association conditional on linkage, which can be helpful in fine mapping. Copyright 2005 Wiley-Liss, Inc.

  20. Linkage to care among adults being investigated for tuberculosis in South Africa: pilot study of a case manager intervention.

    Maraba, Noriah; Chihota, Violet; McCarthy, Kerrigan; Churchyard, Gavin J; Grant, Alison D

    2018-05-24

    We piloted an intervention to determine if support from a case manager would assist adults being investigated for tuberculosis (TB) to link into TB and HIV care. Pilot interventional cohort study. Patients identified by primary healthcare clinic staff in South Africa as needing TB investigations were enrolled. Participants were supported for 3 months by case managers who facilitated the care pathway by promoting HIV testing, getting laboratory results, calling patients to return for results and facilitating treatment initiation. Linkage to TB care was defined as starting TB treatment within 28 days in those with a positive test result; linkage to HIV care, for HIV-positive people, was defined as having blood taken for CD4 count and, for those eligible, starting antiretroviral therapy within 3 months. Intervention implementation was measured by number of attempts to contact participants. Among 562 participants (307 (54.6%) female, median age: 36 years (IQR 29-44)), most 477 (84.8%) had previously tested for HIV; of these, 328/475 (69.1%) self-reported being HIV-positive. Overall, 189/562 (33.6%) participants needed linkage to care (132 HIV care linkage only; 35 TB treatment linkage only; 22 both). Of 555 attempts to contact these 189 participants, 407 were to facilitate HIV care linkage, 78 for TB treatment linkage and 70 for both. At the end of 3-month follow-up, 40 participants had not linked to care (29 of the 132 (22.0%) participants needing linkage to HIV care only, 4 of the 35 (11.4%) needing to start on TB treatment only and 7 of the 22 (31.8%) needing both). Many people testing for TB need linkage to care. Despite case manager support, non-linkage into HIV care remained higher than desirable, suggesting a need to modify this intervention before implementation. Innovative strategies to enable linkage to care are needed. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial

  1. EXPLORING LINKAGES BETWEEN MANUFACTURING FUNCTIONS, OPERATIONS PRIORITIES AND PLANT PERFORMANCE IN MANUFACTURING SMES IN MUMBAI

    B.E. Narkhede

    2012-03-01

    Full Text Available Nowadays, in order for small and medium scale enterprises to excel in performance, it is necessary to have congruency among the manufacturing functions and the operational priorities. In this paper a model is presented to know the relationship between the manufacturing functions, operation priorities and manufacturing performance. Using data collected from small and medium scale manufacturing enterprises in Mumbai and suburban region, this study examines the seven hypothesis based on the relationship between manufacturing functions, priorities and perfomance. The structural equation model is tested using Amos7 software to test the hypothesis. The results show that there exists a positive relation between manufacturing functions and operation priorities as four out of six the dimensions measured such as Process control and implementation, Management of resources, Management of people, and Partnership with supplier are positively related, while two dimensions Training and developing and Teamwork are not positively related. Findings also support strong impact of operation priorities with growth in productivity as a measure of performance.

  2. Position requirements for space station personnel and linkages to portable microcomputer performance assessment

    Jeanneret, P. R.

    1988-01-01

    The development and use of a menu of performance tests that can be self-administered on a portable microcomputer are investigated. In order to identify, develop, or otherwise select the relevant human capabilities/attributes to measure and hence include in the performance battery, it is essential that an analysis be conducted of the jobs or functions that will be performed throughout a space shuttle mission. The primary job analysis instrument, the Position Analysis Questionnaire (PAQ), is discussed in detail so the reader will have sufficient background for understanding the application of the instrument to the various work activities included within the scope of the study, and the derivation of the human requirements (abilities/attributes) from the PAQ analyses. The research methodology is described and includes the procedures used for gathering the PAQ data. The results are presented in detail with specific emphasis on identifying critical requirements that can be measured with a portable computerized assessment battery. A discussion of the results is given with implications for future research.

  3. Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

    Schuster Antje

    2005-01-01

    Full Text Available Abstract Background Asthma is a complex genetic disease with more than 20 genome-wide scans conducted so far. Regions on almost every chromosome have been linked to asthma and several genes have been associated. However, most of these associations are weak and are still awaiting replication. Methods In this study, we conducted a second-stage genome-wide scan with 408 microsatellite markers on 201 asthma-affected sib pair families and defined clinical subgroups to identify phenotype-genotype relations. Results The lowest P value for asthma in the total sample was 0.003 on chromosome 11, while several of the clinical subsets reached lower significance levels than in the overall sample. Suggestive evidence for linkage (p = 0.0007 was found for total IgE on chromosomes 1, 7 and again on chromosome 11, as well as for HDM asthma on chromosome 12. Weaker linkage signals could be found on chromosomes 4 and 5 for early onset and HDM, and, newly described, on chromosome 2 for severe asthma and on chromosome 9 for hay fever. Conclusions This phenotypic dissection underlines the importance of detailed clinical characterisations and the extreme genetic heterogeneity of asthma.

  4. Recurrent major depression and right hippocampal volume: A bivariate linkage and association study.

    Mathias, Samuel R; Knowles, Emma E M; Kent, Jack W; McKay, D Reese; Curran, Joanne E; de Almeida, Marcio A A; Dyer, Thomas D; Göring, Harald H H; Olvera, Rene L; Duggirala, Ravi; Fox, Peter T; Almasy, Laura; Blangero, John; Glahn, David C

    2016-01-01

    Previous work has shown that the hippocampus is smaller in the brains of individuals suffering from major depressive disorder (MDD) than those of healthy controls. Moreover, right hippocampal volume specifically has been found to predict the probability of subsequent depressive episodes. This study explored the utility of right hippocampal volume as an endophenotype of recurrent MDD (rMDD). We observed a significant genetic correlation between the two traits in a large sample of Mexican American individuals from extended pedigrees (ρg = -0.34, p = 0.013). A bivariate linkage scan revealed a significant pleiotropic quantitative trait locus on chromosome 18p11.31-32 (LOD = 3.61). Bivariate association analysis conducted under the linkage peak revealed a variant (rs574972) within an intron of the gene SMCHD1 meeting the corrected significance level (χ(2) = 19.0, p = 7.4 × 10(-5)). Univariate association analyses of each phenotype separately revealed that the same variant was significant for right hippocampal volume alone, and also revealed a suggestively significant variant (rs12455524) within the gene DLGAP1 for rMDD alone. The results implicate right-hemisphere hippocampal volume as a possible endophenotype of rMDD, and in so doing highlight a potential gene of interest for rMDD risk. © 2015 Wiley Periodicals, Inc.

  5. Microsatellite markers of water buffalo, Bubalus bubalis - development, characterisation and linkage disequilibrium studies

    Vaidhegi R

    2009-10-01

    Full Text Available Abstract Background Microsatellite markers are highly polymorphic and widely used in genome mapping and population genetic studies in livestock species. River buffalo, Bubalus bubalis is an economically important livestock species, though only a limited number of microsatellite markers have been reported thus far in this species. Results In the present study, using two different approaches 571 microsatellite markers have been characterized for water buffalo. Of the 571 microsatellite markers, 498 were polymorphic with average heterozygosity of 0.51 on a panel of 24 unrelated buffalo. Fisher exact test was used to detect LD between the marker pairs. Among the 137550 pairs of marker combination, 14.58% pairs showed significant LD (P Conclusion The high conservation of cattle microsatellite loci in water buffalo promises the usefulness of the cattle microsatellites markers on buffalo. The polymorphic markers characterised in this study will contribute to genetic linkage and radiation hybrid mapping of water buffalo and population genetic studies.

  6. Management Activity Linkages to Innovation Deconstruction: An Exploratory Study of the Furniture Industry in Croatia

    Andreja Pirc Barčić

    2016-03-01

    Full Text Available Corporate leaders often view innovation as a key contributor to superior profits, market sharing, and competitive positioning. However, confusion regarding the definition of innovation, how to create it, and how to implement it remains. In countries that are recent European Union members, little research has been done on innovation and how innovation is related to corporate management activities. In this study, the linkages were examined in the Croatian furniture industry. The first part of the study was to deconstruct innovation into three components: product innovation, production process innovation, and human resource innovation. The second part of the study evaluates the relationships between these innovation components and four company management activities/factors (research and development investments, company flexibility, export activity, and the Internet usage were examined. Scale testing resulted in valid deconstruction measures of innovation. Hypothesized correlations between innovation components and company management factors were supported, although the results were not fully consistent with those of previous studies.

  7. A genome-wide linkage scan for dietary energy and nutrient intakes: the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family Study.

    Collaku, Agron; Rankinen, Tuomo; Rice, Treva; Leon, Arthur S; Rao, D C; Skinner, James S; Wilmore, Jack H; Bouchard, Claude

    2004-05-01

    A poor diet is a risk factor for chronic diseases such as obesity, cardiovascular disease, hypertension, and some cancers. Twin and family studies suggest that genetic factors potentially influence energy and nutrient intakes. We sought to identify genomic regions harboring genes affecting total energy, carbohydrate, protein, and fat intakes. We performed a genomic scan in 347 white sibling pairs and 99 black sibling pairs. Dietary energy and nutrient intakes were assessed by using Willett's food-frequency questionnaire. Single-point and multipoint Haseman-Elston regression techniques were used to test for linkage. These subjects were part of the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family Study, a multicenter project undertaken by 5 laboratories. In the whites, the strongest evidence of linkage appeared for dietary energy and nutrient intakes on chromosomes 1p21.2 (P = 0.0002) and 20q13.13 (P = 0.00007), and that for fat intake appeared on chromosome 12q14.1 (P = 0.0013). The linkage evidence on chromosomes 1 and 20 related to total energy intake rather than to the intake of specific macronutrients. In the blacks, promising linkages for macronutrient intakes occurred on chromosomes 12q23-q24.21, 1q32.1, and 7q11.1. Several potential candidate genes are encoded in and around the linkage regions on chromosomes 1p21.2, 12q14.1, and 20q13.13. These are the first reported human quantitative trait loci for dietary energy and macronutrient intakes. Further study may refine these quantitative trait loci to identify potential candidate genes for energy and specific macronutrient intakes that would be amenable to more detailed molecular studies.

  8. Epidemiology Data from the Scottish Health and Ethnicity Linkage Study (SHELS

    Judith Fernandez

    2014-11-01

    Full Text Available We linked the 2001 Scottish Census, which contains ethnicity, socio-economic and demographic data to health and death records, creating an anonymised retrospective cohort study of 4.65 million people to assess the association between ethnicity and health outcomes in Scotland. The databases contain data mostly from hospital discharge and mortality records, but also from other registers.  The databases are stored in a safe haven at the National Records of Scotland (NRS. NRS is currently exploring the feasibility of making Scottish Health and Ethnicity Linkage Study (SHELS data open access while ensuring that the same level of confidentiality is maintained. If SHELS becomes open access it could be reused, with the appropriate approvals, to assess the influence of other socio-economic or demographic measures on the Scottish population’s health.

  9. Testing the Self-Efficacy-Performance Linkage of Social-Cognitive Theory.

    Harrison, Allison W.; Rainer, R. Kelly, Jr.; Hochwarter, Wayne A.; Thompson, Kenneth R.

    1997-01-01

    Briefly reviews Albert Bandura's Self-Efficacy Performance Model (ability to perform a task is influenced by an individual's belief in their capability). Tests this model with a sample of 776 university employees and computer-related knowledge and skills. Results supported Bandura's thesis. Includes statistical tables and a discussion of related…

  10. Probabilistic data linkage: a case study of comparative effectiveness in COPD

    Christopher M Blanchette

    2013-10-01

    Full Text Available Background: In this era of comparative effectiveness research, new, advanced techniques are being investigated by the research community to overcome the limitations of existing data sources. We describe the approach of probabilistic data linkage as a means to address this critical issue. Methods: We employed a historical retrospective cohort design. Patients aged 40 and older with a principal or secondary diagnosis of COPD (ICD-9-CM codes 491.xx, 492.xx, and 496 and at least 3 years of continuous enrollment between January 1, 2004 and April 30, 2009 were selected from two US-based commercial administrative claims databases. The index date was designated as the date of the first claim (defined by a 12-month wash-out pre-index period for the study drugs, for illustration purposes referred to as Treatment 1 or Treatment 2. The primary effectiveness measure was risk of any COPD-related exacerbation observed in the 12-month post-index period, with baseline characteristics being identified in the 12-month pre-index period. Results: The percentage of the study sample receiving Treatment 1 at index who had an exacerbation was 39.3% for Database A and 39.7% for Database B; for Treatment 2, the percentages were 46.3% and 47.1%, respectively. The event rate of hospitalizations in each database sample was nearly identical as were the odds ratio and corresponding confidence intervals from the adjusted logistic regression models (OR – Database A: 0.72, Database B: 0.74, Database A with imputed outcomes: 0.72. Conclusions: The probabilistic linkage demonstrated that patients from different databases matched on similar pre-index characteristics may demonstrate similar outcomes in the post-index period.

  11. Preference‒performance linkage in the diamondback moth, Plutella xylostella , and implications for its management

    Marchioro, Marchioro; Foerster, Luís Amilton

    2014-01-01

    Abstract Host plants affect development, survival, and reproduction of phytophagous insects. In the case of holometabolous species, whose larvae have little mobility to find a host plant, the ability of females to discriminate hosts on the basis of their nutritional quality may be an important factor determining insect performance. The preference‒performance correlation hypothesis states that females will choose to lay their eggs on host plants that provide the best offspring performance. The effects of three cultivated and two wild brassicas (Brassicales: Brassicaceae) on the biology of the diamondback moth, Plutella xylostella L. (Lepidoptera: Plutellidae), an important pest of brassicas, were investigated. Based on these data, the preference–performance correlation hypothesis was tested. The results allowed the discussion of the possible role of wild brassicas on population dynamics of the pest. The life table parameters net reproduction rate and intrinsic rate of increase were used as indicatives of insect performance because they provide a detailed description of the survivorship, development, and reproduction of a population. Development, survival, and reproduction were affected by the cultivated and wild brassicas. Both net reproduction rate and intrinsic rate of increase were lower in individuals fed on wild brassicas, which indicates that brassicas are not nutritionally suitable for P. xylostella . Nevertheless, females showed no oviposition preference among host plants. The results showed that host plant quality might not be the only factor determining host selection by female P. xylostella . Results also suggest that wild brassicas may serve as a refuge for P. xylostella , favoring pest survival when crops are disturbed by insecticide application, irrigation, or ploughing. PMID:25368041

  12. New South Wales Child Development Study (NSW-CDS): an Australian multiagency, multigenerational, longitudinal record linkage study.

    Carr, Vaughan J; Harris, Felicity; Raudino, Alessandra; Luo, Luming; Kariuki, Maina; Liu, Enwu; Tzoumakis, Stacy; Smith, Maxwell; Holbrook, Allyson; Bore, Miles; Brinkman, Sally; Lenroot, Rhoshel; Dix, Katherine; Dean, Kimberlie; Laurens, Kristin R; Green, Melissa J

    2016-02-11

    The initial aim of this multiagency, multigenerational record linkage study is to identify childhood profiles of developmental vulnerability and resilience, and to identify the determinants of these profiles. The eventual aim is to identify risk and protective factors for later childhood-onset and adolescent-onset mental health problems, and other adverse social outcomes, using subsequent waves of record linkage. The research will assist in informing the development of public policy and intervention guidelines to help prevent or mitigate adverse long-term health and social outcomes. The study comprises a population cohort of 87,026 children in the Australian State of New South Wales (NSW). The cohort was defined by entry into the first year of full-time schooling in NSW in 2009, at which time class teachers completed the Australian Early Development Census (AEDC) on each child (with 99.7% coverage in NSW). The AEDC data have been linked to the children's birth, health, school and child protection records for the period from birth to school entry, and to the health and criminal records of their parents, as well as mortality databases. Descriptive data summarising sex, geographic and socioeconomic distributions, and linkage rates for the various administrative databases are presented. Child data are summarised, and the mental health and criminal records data of the children's parents are provided. In 2015, at age 11 years, a self-report mental health survey was administered to the cohort in collaboration with government, independent and Catholic primary school sectors. A second record linkage, spanning birth to age 11 years, will be undertaken to link this survey data with the aforementioned administrative databases. This will enable a further identification of putative risk and protective factors for adverse mental health and other outcomes in adolescence, which can then be tested in subsequent record linkages. Published by the BMJ Publishing Group Limited. For

  13. Linkage between site characterization program and performance and design data needs

    Blanchard, M.B.; Dobson, D.C.; Younker, J.L.; Voegele, M.D.

    1990-01-01

    The basis for identifying site-specific data needs for the Yucca Mountain site was a thorough review and evaluation of the regulatory requirements for a geologic repository. The US Nuclear Regulatory Commission's (NRC) regulation governing disposal of high-level waste in a geologic repository utilizes a multiple barrier approach that includes reliance on both engineered and natural elements. Given an understanding of the regulatory requirements, the next step was to identify the natural features of the site and the components of the engineered barriers considered most likely to make significant contributions to isolation of waste at Yucca Mountain. The intent was to develop a site testing program that focused on understanding those natural site characteristics and processes most likely to contribute to waste isolation; and providing site data necessary to design and assess the performance of engineered barriers. 3 refs., 3 figs

  14. Parenting self-efficacy moderates linkage between partner relationship dissatisfaction and avoidant infant-mother attachment: A Dutch study

    Casse, J.; Oosterman, M.; Schuengel, C.

    2016-01-01

    The early infant-mother attachment relationship is part of a network of close relationships in which the relationship between parents is especially relevant. Evidence for linkages between maternal satisfaction with the partner relationship and infant-mother attachment is equivocal. The current study

  15. A longitudinal study of childhood social behaviour : Inter-informant agreement, inter-context agreement, and social preference linkages

    Kuppens, Sofie; Grietens, Hans; Onghena, Patrick; Michiels, Daisy

    2009-01-01

    This study examined inter-informant agreement, inter-context agreement, and social preference linkages for social behaviour subtypes. On two occasions, data was collected on 600 children (8-10 years old) via mother, father, teacher, and peer reports. Informant reports converged within each context

  16. Linkage of the Canadian Study of Health and Aging to provincial administrative health care databases in Nova Scotia.

    Yip, A M; Kephart, G; Rockwood, K

    2001-01-01

    The Canadian Study of Health and Aging (CSHA) was a cohort study that included 528 Nova Scotian community-dwelling participants. Linkage of CSHA and provincial Medical Services Insurance (MSI) data enabled examination of health care utilization in this subsample. This article discusses methodological and ethical issues of database linkage and explores variation in the use of health services by demographic variables and health status. Utilization over 24 months following baseline was extracted from MSI's physician claims, hospital discharge abstracts, and Pharmacare claims databases. Twenty-nine subjects refused consent for access to their MSI file; health card numbers for three others could not be retrieved. A significant difference in healthcare use by age and self-rated health was revealed. Linkage of population-based data with provincial administrative health care databases has the potential to guide health care planning and resource allocation. This process must include steps to ensure protection of confidentiality. Standard practices for linkage consent and routine follow-up should be adopted. The Canadian Study of Health and Aging (CSHA) began in 1991-92 to explore dementia, frailty, and adverse health outcomes (Canadian Study of Health and Aging Working Group, 1994). The original CSHA proposal included linkage to provincial administrative health care databases by the individual CSHA study centers to enhance information on health care utilization and outcomes of study participants. In Nova Scotia, the Medical Services Insurance (MSI) administration, which drew the sampling frame for the original CSHA, did not retain the list of corresponding health card numbers. Furthermore, consent for this access was not asked of participants at the time of the first interview. The objectives of this study reported here were to examine the feasibility and ethical considerations of linking data from the CSHA to MSI utilization data, and to explore variation in health

  17. Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

    Stein, J.D.; Nelson, L.D.; Conner, B.J. [Univ. of Texas, Houston (United States)] [and others

    1994-09-01

    Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B, twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.

  18. Crime and victimisation in people with intellectual disability: a case linkage study.

    Fogden, Billy C; Thomas, Stuart D M; Daffern, Michael; Ogloff, James R P

    2016-05-28

    Studies have suggested that people with intellectual disability are disproportionately involved in crime both as perpetrators and victims. A case linkage design used three Australian contact-level databases, from disability services, public mental health services and police records. Rates of contact, and official records of victimisation and criminal charges were compared to those in a community sample without intellectual disability. Although people with intellectual disability were significantly less likely to have an official record of victimisation and offending overall, their rates of violent and sexual victimisation and offending were significantly higher. The presence of comorbid mental illness considerably increased the likelihood of victimisation and offending; several sex differences were also noted. People with intellectual disability are at increased risk for both violent and sexual victimisation and offending. The presence of comorbid mental illness aggravates the risk of offending and victimisation. Future research should focus on a more nuanced exploration of the risks associated with intellectual disability and specific mental disorders and related indices of complexity.

  19. Exploitation of linkage learning in evolutionary algorithms

    Chen, Ying-ping

    2010-01-01

    The exploitation of linkage learning is enhancing the performance of evolutionary algorithms. This monograph examines recent progress in linkage learning, with a series of focused technical chapters that cover developments and trends in the field.

  20. Sustainability inter-linkages in reporting vindeicated: a study of European companies

    Lozano, R.

    2013-01-01

    Recently, there has been a rapid growth in company sustainability reporting, as well as an improvement in quality of reports. A number of guidelines have been instrumental in this process; however, they still do not consider the importance of the inter-linkages and synergies among the different

  1. Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22

    González-Neira Anna

    2004-11-01

    Full Text Available Abstract Recent studies of haplotype diversity in a number of genomic regions have suggested that long stretches of DNA are preserved in the same chromosome, with little evidence of recombination events. The knowledge of the extent and strength of these haplotypes could become a powerful tool for future genetic analysis of complex traits. Different patterns of linkage disequilibrium (LD have been found when comparing individuals of African and European descent, but there is scarce knowledge about the worldwide population stratification. Thus, the study of haplotype composition and the pattern of LD from a global perspective are relevant for elucidating their geographical stratification, as it may have implications in the future analysis of complex traits. We have typed 12 single nucleotide polymorphisms in a chromosome 22 region--previously described as having high LD levels in European populations -- in 39 different world populations. Haplotype structure has a clear continental structure with marked heterogeneity within some continents (Africa, America. The pattern of LD among neighbouring markers exhibits a strong clustering of all East Asian populations on the one hand and of Western Eurasian populations (including Europe on the other, revealing only two major LD patterns, but with some very specific outliers due to specific demographic histories. Moreover, it should be taken into account that African populations are highly heterogeneous. The present results support the existence of a wide (but not total communality in LD patterns in human populations from different continental regions, despite differences in their demographic histories, as population factors seem to be less relevant compared with genomic forces in shaping the patterns of LD.

  2. Ethnic variations in upper gastrointestinal hospitalizations and deaths: the Scottish Health and Ethnicity Linkage Study.

    Cezard, Genevieve I; Bhopal, Raj S; Ward, Hester J T; Bansal, Narinder; Bhala, Neeraj

    2016-04-01

    Upper gastrointestinal (GI) diseases are common, but there is a paucity of data describing variations by ethnic group and so a lack of understanding of potential health inequalities. We studied the incidence of specific upper GI hospitalization and death by ethnicity in Scotland. Using the Scottish Health and Ethnicity Linkage Study, linking NHS hospitalizations and mortality to the Scottish Census 2001, we explored ethnic differences in incidence (2001-10) of oesophagitis, peptic ulcer disease, gallstone disease and pancreatitis. Relative Risks (RRs) and 95% confidence intervals were calculated using Poisson regression, multiplied by 100, stratified by sex and adjusted for age, country of birth (COB) and socio-economic position. The White Scottish population (100) was the reference population. Ethnic variations varied by outcome and sex, e.g. adjusted RRs (95% confidence intervals) for oesophagitis were comparatively higher in Bangladeshi women (209; 124-352) and lower in Chinese men (65; 51-84) and women (69; 55-88). For peptic ulcer disease, RRs were higher in Chinese men (171; 131-223). Pakistani women had higher RRs for gallstone disease (129; 112-148) and pancreatitis (147; 109-199). The risks of upper GI diseases were lower in Other White British and Other White [e.g. for peptic ulcer disease in men, respectively (74; 64-85) and (81; 69-94)]. Risks of common upper GI diseases were comparatively lower in most White ethnic groups in Scotland. In non-White groups, however, risk varied by disease and ethnic group. These results require consideration in health policy, service planning and future research. © The Author 2015. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

  3. Month of Conception and Learning Disabilities: A Record-Linkage Study of 801,592 Children.

    Mackay, Daniel F; Smith, Gordon C S; Cooper, Sally-Ann; Wood, Rachael; King, Albert; Clark, David N; Pell, Jill P

    2016-10-01

    Learning disabilities have profound, long-lasting health sequelae. Affected children born over the course of 1 year in the United States of America generated an estimated lifetime cost of $51.2 billion. Results from some studies have suggested that autistic spectrum disorder may vary by season of birth, but there have been few studies in which investigators examined whether this is also true of other causes of learning disabilities. We undertook Scotland-wide record linkage of education (annual pupil census) and maternity (Scottish Morbidity Record 02) databases for 801,592 singleton children attending Scottish schools in 2006-2011. We modeled monthly rates using principal sine and cosine transformations of the month number and demonstrated cyclicity in the percentage of children with special educational needs. Rates were highest among children conceived in the first quarter of the year (January-March) and lowest among those conceived in the third (July-September) (8.9% vs 7.6%; P disabilities, and learning difficulties (e.g., dyslexia) and were absent for sensory or motor/physical impairments and mental, physical, or communication problems. Seasonality accounted for 11.4% (95% confidence interval: 9.0, 13.7) of all cases. Some biologically plausible causes of this variation, such as infection and maternal vitamin D levels, are potentially amendable to intervention. © The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  4. Linkage and related analyses of Barrett's esophagus and its associated adenocarcinomas.

    Sun, Xiangqing; Elston, Robert; Falk, Gary W; Grady, William M; Faulx, Ashley; Mittal, Sumeet K; Canto, Marcia I; Shaheen, Nicholas J; Wang, Jean S; Iyer, Prasad G; Abrams, Julian A; Willis, Joseph E; Guda, Kishore; Markowitz, Sanford; Barnholtz-Sloan, Jill S; Chandar, Apoorva; Brock, Wendy; Chak, Amitabh

    2016-07-01

    Familial aggregation and segregation analysis studies have provided evidence of a genetic basis for esophageal adenocarcinoma (EAC) and its premalignant precursor, Barrett's esophagus (BE). We aim to demonstrate the utility of linkage analysis to identify the genomic regions that might contain the genetic variants that predispose individuals to this complex trait (BE and EAC). We genotyped 144 individuals in 42 multiplex pedigrees chosen from 1000 singly ascertained BE/EAC pedigrees, and performed both model-based and model-free linkage analyses, using S.A.G.E. and other software. Segregation models were fitted, from the data on both the 42 pedigrees and the 1000 pedigrees, to determine parameters for performing model-based linkage analysis. Model-based and model-free linkage analyses were conducted in two sets of pedigrees: the 42 pedigrees and a subset of 18 pedigrees with female affected members that are expected to be more genetically homogeneous. Genome-wide associations were also tested in these families. Linkage analyses on the 42 pedigrees identified several regions consistently suggestive of linkage by different linkage analysis methods on chromosomes 2q31, 12q23, and 4p14. A linkage on 15q26 is the only consistent linkage region identified in the 18 female-affected pedigrees, in which the linkage signal is higher than in the 42 pedigrees. Other tentative linkage signals are also reported. Our linkage study of BE/EAC pedigrees identified linkage regions on chromosomes 2, 4, 12, and 15, with some reported associations located within our linkage peaks. Our linkage results can help prioritize association tests to delineate the genetic determinants underlying susceptibility to BE and EAC.

  5. Cross linkage studies with the membranes of the vesicular stomatitis virus using radioactive 4-acido and 5-acido palmitic acid

    Verfondern, M.

    1983-01-01

    In the study described here the spatial arrangement of lipids and proteins in the VS virus was investigated on the basis of the covalent cross linkage technique. The formation of such cross linkages is brought about by the action of photosensitive acidosubstituted lipids, which permit acido functions to be introduced into a membrane in a previously defined position. Subsequently, photolysis helps to trigger the generation of radioactive nitrenes that react with the proteins and lipids in their immediate vicinity in a direct and non-selective way. The findings revealed by this study have raised questions as to the possibility of lipid-protein and lipid-lipid interactions, which is also discussed. (orig./MG) [de

  6. Improving the detection of pathways in genome-wide association studies by combined effects of SNPs from Linkage Disequilibrium blocks

    Zhao, Huiying; Nyholt, Dale R.; Yang, Yuanhao; Wang, Jihua; Yang, Yuedong

    2017-01-01

    Genome-wide association studies (GWAS) have successfully identified single variants associated with diseases. To increase the power of GWAS, gene-based and pathway-based tests are commonly employed to detect more risk factors. However, the gene- and pathway-based association tests may be biased towards genes or pathways containing a large number of single-nucleotide polymorphisms (SNPs) with small P-values caused by high linkage disequilibrium (LD) correlations. To address such bias, numerous...

  7. Linkages between ocean circulation, heat uptake and transient warming: a sensitivity study

    Pfister, Patrik; Stocker, Thomas

    2016-04-01

    Transient global warming due to greenhouse gas radiative forcing is substantially reduced by ocean heat uptake (OHU). However, the fraction of equilibrium warming that is realized in transient climate model simulations differs strongly between models (Frölicher and Paynter 2015). It has been shown that this difference is not only related to the magnitude of OHU, but also to the radiative response the OHU causes, measured by the OHU efficacy (Winton et al., 2010). This efficacy is strongly influenced by the spatial pattern of the OHU and its changes (Rose et al. 2014, Winton et al. 2013), predominantly caused by changes in the Atlantic meridional overturning circulation (AMOC). Even in absence of external greenhouse gas forcing, an AMOC weakening causes a radiative imbalance at the top of the atmosphere (Peltier and Vettoretti, 2014), inducing in a net warming of the Earth System. We investigate linkages between those findings by performing both freshwater and greenhouse gas experiments in an Earth System Model of Intermediate Complexity. To assess the sensitivity of the results to ocean and atmospheric transport as well as climate sensitivity, we use an ensemble of model versions, systematically varying key parameters. We analyze circulation changes and radiative adjustments in conjunction with traditional warming metrics such as the transient climate response and the equilibrium climate sensitivity. This aims to improve the understanding of the influence of ocean circulation and OHU on transient climate change, and of the relevance of different metrics for describing this influence. References: Frölicher, T. L. and D.J. Paynter (2015), Extending the relationship between global warming and cumulative carbon emissions to multi-millennial timescales, Environ. Res. Lett., 10, 075022 Peltier, W. R., and G. Vettoretti (2014), Dansgaard-Oeschger oscillations predicted in a comprehensive model of glacial climate: A "kicked" salt oscillator in the Atlantic, Geophys. Res

  8. Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies.

    Yang, Wanling; Wang, Zhanyong; Wang, Lusheng; Sham, Pak-Chung; Huang, Peng; Lau, Yu Lung

    2008-12-01

    With genotyping of high-density single nucleotide polymorphisms (SNPs) replacing that of microsatellite markers in linkage studies, it becomes possible to accurately determine the genomic regions shared identity by descent (IBD) by family members. In addition to evaluating the likelihood of linkage for a region with the underlining disease (the LOD score approach), an appropriate question to ask is what would be the expected number and sizes of IBD regions among the affecteds, as there could be more than one region reaching the maximum achievable LOD score for a given family. Here, we introduce a computer program to allow the prediction of the total number of IBD regions among family members and their sizes. Reversely, it can be used to predict the portion of the genome that can be excluded from consideration according to the family size and user-defined inheritance mode and penetrance. Such information has implications on the feasibility of conducting linkage analysis on a given family of certain size and structure or on a few small families when interfamily homogeneity can be assumed. It can also help determine the most relevant members to be genotyped for such a study. Simulation results showed that the IBD regions containing true mutations are usually larger than regions IBD due to random chance. We have made use of this feature in our program to allow evaluation of the identified IBD regions based on Bayesian probability calculation and simulation results.

  9. Exploring the Linkages Between Deming’s Principle, World-Class Company, Operational Excellence, and Company Performance in an Oil and Gas Industry Setting

    Wakhid Slamet Ciptono

    2005-06-01

    Full Text Available This study explores the linkages between Deming’s Principle, World-Class Company, Operational Excellence, and Company Performance in the Indonesia’s oil and gas industry. The aim of this study is to examine the causal relationships model between the Deming’s Principle (DP, World-Class Company (WCC, Operational Excellence (OE, and Company Performance (Monetary Gain Performance or MGP and Value Gain Performance or VGP. The author used 140 strategic business units (SBUs in 49 oil and gas companies in Indonesia. The survey was administered to every level of management at each SBU (Top, Middle, and Low Level Management. A multiple informant sampling unit is used to ensure a balanced view of the relationships between the research constructs, and to collect data from the most informed respondents on different levels of management. A total of 1,332 individual usable questionnaires were returned thus qualified for analysis, representing an effective response rate of 50.19 percent. Path analysis and structural equation modeling (SEM are used to analyze the effect of Deming’s principle on company performance and to investigate the interrelationships between Deming’s principle, world-class company, operational excellence, and company performance. The results show that Deming’s Principle has significant positive and indirect effect on company performance (monetary gain performance and value gain performance. Although the Deming’s Principle has no significant direct effects on company performance, the Deming’s Principle has significant positive effects on the intervening variables (world-class company and operational excellence. The result also shows that a complete model fit and the acceptable parameter level that indicate the overall parameter are good fit between the hypothesized model and the observed data. By concentrating on a single industry (oil and gas, SEM specification of the causal relationship model between five constructs can be

  10. Linkage analysis: Inadequate for detecting susceptibility loci in complex disorders?

    Field, L.L.; Nagatomi, J. [Univ. of Calgary, Alberta (Canada)

    1994-09-01

    Insulin-dependent diabetes mellitus (IDDM) may provide valuable clues about approaches to detecting susceptibility loci in other oligogenic disorders. Numerous studies have demonstrated significant association between IDDM and a VNTR in the 5{prime} flanking region of the insulin (INS) gene. Paradoxically, all attempts to demonstrate linkage of IDDM to this VNTR have failed. Lack of linkage has been attributed to insufficient marker locus information, genetic heterogeneity, or high frequency of the IDDM-predisposing allele in the general population. Tyrosine hydroxylase (TH) is located 2.7 kb from INS on the 5` side of the VNTR and shows linkage disequilibrium with INS region loci. We typed a highly polymorphic microsatellite within TH in 176 multiplex families, and performed parametric (lod score) linkage analysis using various intermediate reduced penetrance models for IDDM (including rare and common disease allele frequencies), as well as non-parametric (affected sib pair) linkage analysis. The scores significantly reject linkage for recombination values of .05 or less, excluding the entire 19 kb region containing TH, the 5{prime} VNTR, the INS gene, and IGF2 on the 3{prime} side of INS. Non-parametric linkage analysis also provided no significant evidence for linkage (mean TH allele sharing 52.5%, P=.12). These results have important implications for efforts to locate genes predisposing to complex disorders, strongly suggesting that regions which are significantly excluded by linkage methods may nevertheless contain predisposing genes readily detectable by association methods. We advocate that investigators routinely perform association analyses in addition to linkage analyses.

  11. A guide to evaluating linkage quality for the analysis of linked data.

    Harron, Katie L; Doidge, James C; Knight, Hannah E; Gilbert, Ruth E; Goldstein, Harvey; Cromwell, David A; van der Meulen, Jan H

    2017-10-01

    Linked datasets are an important resource for epidemiological and clinical studies, but linkage error can lead to biased results. For data security reasons, linkage of personal identifiers is often performed by a third party, making it difficult for researchers to assess the quality of the linked dataset in the context of specific research questions. This is compounded by a lack of guidance on how to determine the potential impact of linkage error. We describe how linkage quality can be evaluated and provide widely applicable guidance for both data providers and researchers. Using an illustrative example of a linked dataset of maternal and baby hospital records, we demonstrate three approaches for evaluating linkage quality: applying the linkage algorithm to a subset of gold standard data to quantify linkage error; comparing characteristics of linked and unlinked data to identify potential sources of bias; and evaluating the sensitivity of results to changes in the linkage procedure. These approaches can inform our understanding of the potential impact of linkage error and provide an opportunity to select the most appropriate linkage procedure for a specific analysis. Evaluating linkage quality in this way will improve the quality and transparency of epidemiological and clinical research using linked data. © The Author 2017. Published by Oxford University Press on behalf of the International Epidemiological Association.

  12. Linkage Behavior and Practices of Agencies in the Agricultural ...

    The study examined the linkage behaviour and practices of agencies in the ... institutes; while (61.5%,65.5%and 50.0%) indicated that linkages with universities of ... Existing institutional framework for linkages between research and extension ...

  13. Test of a causal Human Resource Management-Performance Linkage Model: Evidence from the Greek manufacturing sector

    Katou, A.; Katou, A.

    2011-01-01

    Although a number of studies have recognized the relationship between Human Resource Management (HRM) policies and organisational performance, the mechanisms through which HRM policies lead to organisational performance remain still unexplored. The purpose of this paper is to investigate the pathways leading from HRM policies to organisational performance by using structural equation modelling. Specifically, this analytical tool has been used to test a research framework that is constituted ...

  14. The Linkage Between Work Unit Performance Perceptions of U.S. Federal Employees and Their Job Satisfaction: An Expectancy Theory

    Soyoung PARK

    2018-02-01

    Full Text Available Public organizations are interested in how to improve their performance. Performance in a work unit can also influence employee job satisfaction due to positive expectations based on higher performance. Thus, our study attempts to investigate if organizational performance has an impact on employee motivation under the premise that employees who perform better in a work unit expect greater professional recognition and rewards. By using data from the 2013 Federal Employee Viewpoint Survey (FEVS, we find that employees who perceive higher levels of performance in a work unit have a higher level of job satisfaction. This paper further shows that performance perception based on rewards is also positively related to job satisfaction.However, underrepresented groups (female and non-white, older employees and mid-level (work experience from 6 to 14 years employees are less satisfied with higher work unit performance. Finally, employees in the distributive agency category are more satisfied with work unit performance while those in the regulatory agency category are less satisfied with work unit performance. In conclusion, organizations should recognize particular characteristics of employees to develop the policies related to performance management, and effectively utilize these policies in order to attract and retain proficient workers.

  15. Well-being, work engagement, or both? Explaining the linkage between information provision, communication climate, and performance

    ter Hoeven, C.; Fransen, M.

    2012-01-01

    For organizations, it is valuable to know how employees’ performance can be guaranteed. The aim of the current study was to examine whether information provision may improve employee performance by enhancing communication climate, work engagement, and employee well-being. To this end, employees (N =

  16. Is there a 'Scottish effect' for mortality? Prospective observational study of census linkage studies.

    Popham, Frank; Boyle, Paul J

    2011-09-01

    Scotland's mortality rate is higher than England and Wales' and this difference cannot be explained by differences in area-level socio-economic deprivation. However, studies of this 'Scottish effect' have not adjusted for individual-level measures of socio-economic position nor accounted for country of birth; important as Scottish born living in England and Wales also have high mortality risk. Data sets (1991-2001 and 2001-2007) were obtained from the Scottish Longitudinal Study and the Office for National Statistics England and Wales Longitudinal Study that both link census records to subsequent mortality. Analysis was limited to those aged 35-74 at baseline with people followed to emigration, death or end of follow-up. Those born in Scotland living in either England and Wales or Scotland had a higher mortality rate than the English born living in England and Wales that was not fully attenuated by adjustment for car access and housing tenure. Adjusting for household-level differences in socio-economic deprivation does not fully explain the Scottish excess mortality that is seen for those born in Scotland whether living in England and Wales or Scotland. Taking a life course approach may reveal the cause of the 'Scottish effect'.

  17. Genomewide linkage scan of resting blood pressure: HERITAGE Family Study. Health, Risk Factors, Exercise Training, and Genetics.

    Rice, Treva; Rankinen, Tuomo; Chagnon, Yvon C; Province, Michael A; Pérusse, Louis; Leon, Arthur S; Skinner, James S; Wilmore, Jack H; Bouchard, Claude; Rao, Dabeeru C

    2002-06-01

    The purpose of this study was to search for genomic regions influencing resting systolic (SBP) and diastolic (DBP) blood pressure (BP) in sedentary families (baseline), and for resting BP responses (changes) resulting from a 20-week exercise training intervention (post-training-baseline) in the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family Study. A genome-wide scan was conducted on 317 black individuals from 114 families and 519 white individuals from 99 families using a multipoint variance-components linkage model and a panel of 509 markers. Promising results were primarily, but not exclusively, found in the black families. Linkage evidence (PHERITAGE data, in conjunction with results from previous genomewide scans, provide a basis for planning future investigations. The major areas warranting further study involve fine mapping to narrow down 3 regions on 2q, 3p, and 12q that may contain "novel" hypertension genes, additional typing of some biological candidate genes to determine whether they are the sources of these and other signals, multilocus investigations to understand how and to what extent some of these candidates may interact, and multivariate studies to characterize any pleiotropy.

  18. North-South Business Linkages

    Sørensen, Olav Jull; Kuada, John

    2006-01-01

    Based on empirical studies of linkages between TNCs and local firms in India, Malaysia, Vietnam, Ghana and South Africa, five themes are discussed and related to present theoretical perspectives. The themes are (1) Linakge Governance; (2) Globalisation and the dynamics in developing countries (the...... TNC-driven markets in developing countries); (3) The upgrading impact of FDI; (4) Non-equity linkages as a platform for business development, and (5) The learning perspective on international business linakges. The chapter offers at the end a three-dimanional model for impacts of business linkages....

  19. Exploring evidence-policy linkages in health research plans: A case study from six countries

    Oladepo Oladimeji

    2008-03-01

    Full Text Available Abstract The complex evidence-policy interface in low and middle income country settings is receiving increasing attention. Future Health Systems (FHS: Innovations for Equity, is a research consortium conducting health systems explorations in six Asian and African countries: Bangladesh, India, China, Afghanistan, Uganda, and Nigeria. The cross-country research consortium provides a unique opportunity to explore the research-policy interface. Three key activities were undertaken during the initial phase of this five-year project. First, key considerations in strengthening evidence-policy linkages in health system research were developed by FHS researchers through workshops and electronic communications. Four key considerations in strengthening evidence-policy linkages are postulated: development context; research characteristics; decision-making processes; and stakeholder engagement. Second, these four considerations were applied to research proposals in each of the six countries to highlight features in the research plans that potentially strengthen the research-policy interface and opportunities for improvement. Finally, the utility of the approach for setting research priorities in health policy and systems research was reflected upon. These three activities yielded interesting findings. First, developmental consideration with four dimensions – poverty, vulnerabilities, capabilities, and health shocks – provides an entry point in examining research-policy interfaces in the six settings. Second, research plans focused upon on the ground realities in specific countries strengthens the interface. Third, focusing on research prioritized by decision-makers, within a politicized health arena, enhances chances of research influencing action. Lastly, early and continued engagement of multiple stakeholders, from local to national levels, is conducive to enhanced communication at the interface. The approach described has four main utilities: first

  20. Data Linkage: A powerful research tool with potential problems

    Scott Ian

    2010-12-01

    Full Text Available Abstract Background Policy makers, clinicians and researchers are demonstrating increasing interest in using data linked from multiple sources to support measurement of clinical performance and patient health outcomes. However, the utility of data linkage may be compromised by sub-optimal or incomplete linkage, leading to systematic bias. In this study, we synthesize the evidence identifying participant or population characteristics that can influence the validity and completeness of data linkage and may be associated with systematic bias in reported outcomes. Methods A narrative review, using structured search methods was undertaken. Key words "data linkage" and Mesh term "medical record linkage" were applied to Medline, EMBASE and CINAHL databases between 1991 and 2007. Abstract inclusion criteria were; the article attempted an empirical evaluation of methodological issues relating to data linkage and reported on patient characteristics, the study design included analysis of matched versus unmatched records, and the report was in English. Included articles were grouped thematically according to patient characteristics that were compared between matched and unmatched records. Results The search identified 1810 articles of which 33 (1.8% met inclusion criteria. There was marked heterogeneity in study methods and factors investigated. Characteristics that were unevenly distributed among matched and unmatched records were; age (72% of studies, sex (50% of studies, race (64% of studies, geographical/hospital site (93% of studies, socio-economic status (82% of studies and health status (72% of studies. Conclusion A number of relevant patient or population factors may be associated with incomplete data linkage resulting in systematic bias in reported clinical outcomes. Readers should consider these factors in interpreting the reported results of data linkage studies.

  1. Pavement Subgrade Performance Study

    Zhang, Wei; Ullidtz, Per; Macdonald, Robin

    1998-01-01

    The report describes the second test in the Danish Road Testing Machine (RTM) under the International Pavement Subgrade Performance Study. Pavement response was measured in different layers, and compared to different theroretical values. Performance in terms of plastic strains, rutting...

  2. Studying Hospitalizations and Mortality in the Netherlands: Feasible and Valid Using Two-Step Medical Record Linkage with Nationwide Registers.

    Elske Sieswerda

    Full Text Available In the Netherlands, the postal code is needed to study hospitalizations of individuals in the nationwide hospitalization register. Studying hospitalizations longitudinally becomes troublesome if individuals change address. We aimed to report on the feasibility and validity of a two-step medical record linkage approach to examine longitudinal trends in hospitalizations and mortality in a study cohort. First, we linked a study cohort of 1564 survivors of childhood cancer with the Municipal Personal Records Database (GBA which has postal code history and mortality data available. Within GBA, we sampled a reference population matched on year of birth, gender and calendar year. Second, we extracted hospitalizations from the Hospital Discharge Register (LMR with a date of discharge during unique follow-up (based on date of birth, gender and postal code in GBA. We calculated the agreement of death and being hospitalized in survivors according to the registers and to available cohort data. We retrieved 1477 (94% survivors from GBA. Median percentages of unique/potential follow-up were 87% (survivors and 83% (reference persons. Characteristics of survivors and reference persons contributing to unique follow-up were comparable. Agreement of hospitalization during unique follow-up was 94% and agreement of death was 98%. In absence of unique identifiers in the Dutch hospitalization register, it is feasible and valid to study hospitalizations and mortality of individuals longitudinally using a two-step medical record linkage approach. Cohort studies in the Netherlands have the opportunity to study mortality and hospitalization rates over time. These outcomes provide insight into the burden of clinical events and healthcare use in studies on patients at risk of long-term morbidities.

  3. Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder

    Zhou, K.; Dempfle, A.; Arcos-Burgos, M.; Bakker, S.C.; Banaschewski, T.; Biederman, J; Buitelaar, J.K.; Castellanos, F.X.; Doyle, A.; Ebstein, R.; Ekholm, J.; Forabosco, P.; Franke, F.; Freitag, C.; Friedel, S.; Gill, M.; Hebebrand, J.; Hinney, A.; Jacob, C.; Lesch, K.P.; Loo, S.K.; Lopera, F.; McCracken, J.T.; McGough, J.J.; Meyer, J.; Mick, E.; Miranda, A.; Muenkel, M.; Mulas, F.; Nelson, S.F.; Nguyen, T.T.; Oades, R.D.; Ogdie, M.N.; Palacio, J.D.; Pineda, D.; Reif, A.; Renner, T.J.; Roeyers, H.; Romanos, M.; Rothenberger, A.; Schäfer, H.; Sergeant, J.A.; Sinke, R.J.; Smalley, S.L.; Sonuga-Barke, E.; Steinhausen, H.C.; van der Meulen, E.; Walitza, S.; Warnke, A.; Lewis, C.M.; Faraone, S.V.; Asherson, P.

    2008-01-01

    Genetic contribution to the development of attention deficit hyperactivity disorder (ADHD) is well established. Seven independent genome-wide linkage scans have been performed to map loci that increase the risk for ADHD. Although significant linkage signals were identified in some of the studies,

  4. Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder.

    Zhou, K.; Dempfle, A.; Arcos-Burgos, M.; Bakker, S.C.; Banaschewski, T.; Biederman, J.; Buitelaar, J.K.; Castellanos, F.X.; Doyle, A.; Ebstein, R.P.; Ekholm, J.; Forabosco, P.; Franke, B.; Freitag, C.; Friedel, S.; Gill, M.; Hebebrand, J.; Hinney, A.; Jacob, C.; Lesch, K.P.; Loo, S.K.; Lopera, F.; McCracken, J.T.; McGough, J.J.; Meyer, J.; Mick, E.; Miranda, A.; Muenke, M.; Mulas, F.; Nelson, S.F.; Nguyen, T.T.; Oades, R.D.; Ogdie, M.N.; Palacio, J.D.; Pineda, D.; Reif, A.; Renner, T.J.; Roeyers, H.; Romanos, M.; Rothenberger, A.; Schafer, H.; Sergeant, J.A.; Sinke, R.J.; Smalley, S.L.; Sonuga-Barke, E.J.S.; Steinhausen, H.C.; Meulen, E. van der; Walitza, S.; Warnke, A.; Lewis, C.M.; Faraone, S.V.; Asherson, P.

    2008-01-01

    Genetic contribution to the development of attention deficit hyperactivity disorder (ADHD) is well established. Seven independent genome-wide linkage scans have been performed to map loci that increase the risk for ADHD. Although significant linkage signals were identified in some of the studies,

  5. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

    Bergen, A. A.; Samanns, C.; Schuurman, E. J.; van Osch, L.; van Dorp, D. B.; Pinckers, A. J.; Bakker, E.; Gal, A.; van Ommen, G. J.; Bleeker-Wagemakers, E. M.

    1991-01-01

    An extensive linkage analysis was performed by studying ten Xp22 loci in ten families segregating for X-linked ocular albinism of the Nettleship-Falls type (XOA). Linkage was confirmed between the XOA locus (OA1) and both DXS16 (theta max = 0.10, zeta max = 4.09) and DXS237 (theta max = 0.12, zeta

  6. A record linkage study of outcomes in patients with mild primary hyperparathyroidism: the Parathyroid Epidemiology and Audit Research Study (PEARS).

    Yu, Ning; Donnan, Peter T; Leese, Graham P

    2011-08-01

    Primary hyperparathyroidism (PHPT) is a common endocrine disorder, but the majority of cases are perceived to be mild and remain untreated. To determine the risk of mortality and morbidities in patients with mild PHPT. Tayside, Scotland, 1997-2006. A historical, prospective, record-linkage, population-based, matched cohort study. All patients with diagnosed but untreated, mild PHPT. METHOD AND OUTCOME MEASURES: Each patient with PHPT was matched with five population-based comparators, by age, gender and calendar year of PHPT diagnosis, selected from the general population. Primary outcomes were all-cause mortality, fatal and nonfatal cardiovascular disease (CVD). Secondary outcomes were cancer-related deaths and other hospital admitted morbidities, including cerebrovascular disease, fractures, hypertension, psychiatric disease, renal complications, cancer and diabetes. The risk was assessed using the Cox proportional hazards model, adjusting for confounding factors of pre-existing co-morbidities, previous prescription of bisphosphonates, socio-economic deprivation score and the probability of having a calcium check. Compared to the matched cohort, the risk of all cause mortality, fatal and nonfatal CVD was increased in patients with asymptomatic PHPT: adjusted hazard ratios (HR) 1·64 (95% CI: 1·43-1·87), 1·64 (95% CI: 1·32-2·04) and 2·48 (95% CI: 2·13-2·89), respectively. The risk was also increased in all secondary outcomes, with the risk of renal failure and renal stones being the highest, adjusted HRs being 13·83 (95% CI: 10·41-18·37) and 5·15 (95% CI: 2·69-9·83), respectively. Patients with mild PHPT had an increased risk of mortality, fatal and nonfatal CVD, and the risk of developing other co-morbidities was also increased. © 2011 Blackwell Publishing Ltd.

  7. VT Wildlife Linkage Habitat

    Vermont Center for Geographic Information — (Link to Metadata) The Wildlife Linkage Habitat Analysis uses landscape scale data to identify or predict the location of potentially significant wildlife linkage...

  8. Feeding kinematics and performance of Hawaiian stream gobies, Awaous guamensis and Lentipes concolor: linkage of functional morphology and ecology.

    Maie, Takashi; Wilson, Megan P; Schoenfuss, Heiko L; Blob, Richard W

    2009-03-01

    Distributions of Hawaiian stream fishes are typically interrupted by waterfalls that divide streams into multiple segments. Larvae hatch upstream, are flushed into the ocean, and must climb these waterfalls to reach adult habitats when returning back to freshwater as part of an amphidromous life cycle. Stream surveys and studies of climbing performance show that Lentipes concolor Gill can reach fast-flowing upper stream segments but that Awaous guamensis Valenciennes reaches only slower, lower stream segments. Gut content analyses for these two species indicate considerable overlap in diet, suggesting that feeding kinematics and performance of these two species might be comparable. Alternatively, feeding kinematics and performance of these species might be expected to differ in relation to the different flow regimes in their habitat (feeding in faster stream currents for L. concolor versus in slower currents for A. guamensis). To test these alternative hypotheses, we compared food capturing kinematics and performance during suction feeding behaviors of A. guamensis and L. concolor using morphological data and high-speed video. Lentipes concolor showed both a significantly larger gape angle and faster jaw opening than A. guamensis. Geometric models calculated that despite the inverse relationship of gape size and suction pressure generation, the fast jaw motions of L. concolor allow it to achieve higher pressure differentials than A. guamensis. Such elevated suction pressure would enhance the ability of L. concolor to successfully capture food in the fast stream reaches it typically inhabits. Differences in jaw morphology may contribute to these differences in performance, as the lever ratio for jaw opening is about 10% lower in L. concolor compared with A. guamensis, suiting the jaws of L. concolor better for fast opening. Copyright 2008 Wiley-Liss, Inc.

  9. Post-transplant outcomes in pediatric ventricular assist device patients: A PediMACS-Pediatric Heart Transplant Study linkage analysis.

    Sutcliffe, David L; Pruitt, Elizabeth; Cantor, Ryan S; Godown, Justin; Lane, John; Turrentine, Mark W; Law, Sabrina P; Lantz, Jodie L; Kirklin, James K; Bernstein, Daniel; Blume, Elizabeth D

    2017-12-13

    Pediatric ventricular assist device (VAD) support as bridge to transplant has improved waitlist survival, but the effects of pre-implant status and VAD-related events on post-transplant outcomes have not been assessed. This study is a linkage analysis between the PediMACS and Pediatric Heart Transplant Study databases to determine the effects of VAD course on post-transplant outcomes. Database linkage between October 1, 2012 and December 31, 2015 identified 147 transplanted VAD patients, the primary study group. The comparison cohort was composed of 630 PHTS patients without pre-transplant VAD support. The primary outcome was post-transplant survival, with secondary outcomes of post-transplant length of stay, freedom from infection and freedom from rejection. At implant, the VAD cohort was INTERMACS Profile 1 in 33 (23%), Profile 2 in 89 (63%) and Profile 3 in 14 (10%) patients. The VAD cohort was older, larger, and less likely to have congenital heart disease (p < 0.0001). However, they had greater requirements for inotrope and ventilator support and increased liver and renal dysfunction (p < 0.0001), both of which normalized at transplant after device support. Importantly, there were no differences in 1-year post-transplant survival (96% vs 93%, p = 0.3), freedom from infection (81% vs 79%, p = 0.9) or freedom from rejection (71% vs 74%, p = 0.87) between cohorts. Pediatric VAD patients have post-transplant outcomes equal to that of medically supported patients, despite greater pre-implant illness severity. Post-transplant survival, hospital length of stay, infection and rejection were not affected by patient acuity at VAD implantation or VAD-related complications. Therefore, VAD as bridge to transplant mitigates severity of illness in children. Copyright © 2017 International Society for the Heart and Lung Transplantation. Published by Elsevier Inc. All rights reserved.

  10. Subsidiary Linkage Patterns

    Andersson, Ulf; Perri, Alessandra; Nell, Phillip C.

    2012-01-01

    channels for spillovers to competitors. We find a curvilinear relationship between the extent of competitive pressure and the quality of a subsidiary's set of local linkages. Furthermore, the extent to which a subsidiary possesses capabilities moderates this relationship: Very capable subsidiaries...... in strongly competitive environments tend to shy away from high quality linkages. We discuss our findings in light of the literature on spillovers and inter-organizational linkages.......This paper investigates the pattern of subsidiaries' local vertical linkages under varying levels of competition and subsidiary capabilities. Contrary to most previous literature, we explicitly account for the double role of such linkages as conduits of learning prospects as well as potential...

  11. Children with life-limiting conditions in paediatric intensive care units: a national cohort, data linkage study.

    Fraser, Lorna K; Parslow, Roger

    2017-07-13

    To determine how many children are admitted to paediatric intensive care unit (PICU) with life-limiting conditions (LLCs) and their outcomes. National cohort, data-linkage study. PICUs in England. Children admitted to a UK PICU (1 January 2004 and 31 March 2015) were identified in the Paediatric Intensive Care Audit Network dataset. Linkage to hospital episodes statistics enabled identification of children with a LLC using an International Classification of Diseases (ICD10) code list. Random-effects logistic regression was undertaken to assess risk of death in PICU. Flexible parametric survival modelling was used to assess survival in the year after discharge. Overall, 57.6% (n=89 127) of PICU admissions and 72.90% (n=4821) of deaths in PICU were for an individual with a LLC.The crude mortality rate in PICU was 5.4% for those with a LLC and 2.7% of those without a LLC. In the fully adjusted model, children with a LLC were 75% more likely than those without a LLC to die in PICU (OR 1.75 (95% CI 1.64 to 1.87)).Although overall survival to 1 year postdischarge was 96%, children with a LLC were 2.5 times more likely to die in that year than children without a LLC (OR 2.59 (95% CI 2.47 to 2.71)). Children with a LLC accounted for a large proportion of the PICU population. There is an opportunity to integrate specialist paediatric palliative care services with paediatric critical care to enable choice around place of care for these children and families. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. Childhood Health and Educational Outcomes Associated With Maternal Sleep Apnea: A Population Record-Linkage Study.

    Bin, Yu Sun; Cistulli, Peter A; Roberts, Christine L; Ford, Jane B

    2017-11-01

    Sleep apnea in pregnancy is known to adversely affect birth outcomes. Whether in utero exposure to maternal sleep apnea is associated with long-term childhood consequences is unclear. Population-based longitudinal study of singleton infants born during 2002-2012 was conducted using linked birth, hospital, death, developmental, and educational records from New South Wales, Australia. Maternal sleep apnea during pregnancy was identified from hospital records. Outcomes were mortality and hospitalizations up to age 6, developmental vulnerability in the first year of school (aged 5-6 years), and performance on standardized tests in the third year of school (aged 7-9 years). Cox proportional hazards and modified Poisson regression models were used to calculate hazard and risk ratios for outcomes in children exposed to maternal apnea compared with those not exposed. Two hundred nine of 626188 singleton infants were exposed to maternal sleep apnea. Maternal apnea was not significantly associated with mortality (Fisher's exact p = .48), developmental vulnerability (adjusted RR 1.29; 95% CI 0.75-2.21), special needs status (1.58; 0.61-4.07), or low numeracy test scores (1.03; 0.63-1.67) but was associated with low reading test scores (1.55; 1.08-2.23). Maternal apnea significantly increased hospitalizations in the first year of life (adjusted HR 1.81; 95% CI 1.40-2.34) and between the first and sixth birthdays (1.41; 1.14-1.75). This is partly due to admissions for suspected pediatric sleep apnea. Maternal sleep apnea during pregnancy is associated with poorer childhood health. Its impact on developmental and cognitive outcomes warrants further investigation. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

  13. Estimating parameters for probabilistic linkage of privacy-preserved datasets.

    Brown, Adrian P; Randall, Sean M; Ferrante, Anna M; Semmens, James B; Boyd, James H

    2017-07-10

    Probabilistic record linkage is a process used to bring together person-based records from within the same dataset (de-duplication) or from disparate datasets using pairwise comparisons and matching probabilities. The linkage strategy and associated match probabilities are often estimated through investigations into data quality and manual inspection. However, as privacy-preserved datasets comprise encrypted data, such methods are not possible. In this paper, we present a method for estimating the probabilities and threshold values for probabilistic privacy-preserved record linkage using Bloom filters. Our method was tested through a simulation study using synthetic data, followed by an application using real-world administrative data. Synthetic datasets were generated with error rates from zero to 20% error. Our method was used to estimate parameters (probabilities and thresholds) for de-duplication linkages. Linkage quality was determined by F-measure. Each dataset was privacy-preserved using separate Bloom filters for each field. Match probabilities were estimated using the expectation-maximisation (EM) algorithm on the privacy-preserved data. Threshold cut-off values were determined by an extension to the EM algorithm allowing linkage quality to be estimated for each possible threshold. De-duplication linkages of each privacy-preserved dataset were performed using both estimated and calculated probabilities. Linkage quality using the F-measure at the estimated threshold values was also compared to the highest F-measure. Three large administrative datasets were used to demonstrate the applicability of the probability and threshold estimation technique on real-world data. Linkage of the synthetic datasets using the estimated probabilities produced an F-measure that was comparable to the F-measure using calculated probabilities, even with up to 20% error. Linkage of the administrative datasets using estimated probabilities produced an F-measure that was higher

  14. STAKEHOLDER LINKAGES FOR SUSTAINABLE LAND ...

    Osondu

    Key words: Stakeholders; farmer-expert linkages; resource management; Ethiopia. Introduction ... decentralized democratic decision making processes and thus ..... district offices within the given time limits. They were often .... -less willing and less ready to hearing weaker performance reports (expect more success with ...

  15. Increased level of linkage disequilibrium in rural compared with urban communities: a factor to consider in association-study design.

    Vitart, Veronique; Carothers, Andrew D; Hayward, Caroline; Teague, Peter; Hastie, Nicholas D; Campbell, Harry; Wright, Alan F

    2005-05-01

    Few studies have investigated genetic differentiation within nonisolate European populations, despite the initiation of large national sample collections such as U.K. Biobank. Here, we used short tandem repeat markers to explore fine-scale genetic structure and to examine the extent of linkage disequilibrium (LD) within national subpopulations. We studied 955 unrelated individuals of local ancestry from nine Scottish rural regions and the urban center of Edinburgh, as well as 96 unrelated individuals from the general U.K. population. Despite little overall differentiation on the basis of allele frequencies, there were clear differences among subpopulations in the extent of pairwise LD, measured between a subset of X-linked markers, that reflected presumed differences in the depths of the underlying genealogies within these subpopulations. Therefore, there are strategic advantages in studying rural subpopulations, in terms of increased power and reduced cost, that are lost by sampling across regions or within urban populations. Similar rural-urban contrasts are likely to exist in many other populations with stable rural subpopulations, which could influence the design of genetic association studies and national biobank data collections.

  16. Anonymous non-response analysis in the ABCD cohort study enabled by probabilistic record linkage

    Tromp, M.; van Eijsden, M.; Ravelli, A. C. J.; Bonsel, G. J.

    2009-01-01

    Selective non-response is an important threat to study validity as it can lead to selection bias. The Amsterdam Born Children and their Development study (ABCD-study) is a large cohort study addressing the relationship between life style, psychological conditions, nutrition and sociodemographic

  17. Maternal and perinatal factors associated with hospitalised infectious mononucleosis in children, adolescents and young adults: record linkage study

    2011-01-01

    Background There is current interest in the role of perinatal factors in the aetiology of diseases that occur later in life. Infectious mononucleosis (IM) can follow late primary infection with Epstein-Barr virus (EBV), and has been shown to increase the risk of multiple sclerosis and Hodgkin's disease. Little is known about maternal or perinatal factors associated with IM or its sequelae. Methods We investigated perinatal risk factors for hospitalised IM using a prospective record-linkage study in a population in the south of England. The dataset used, the Oxford record linkage study (ORLS), includes abstracts of birth registrations, maternities and in-patient hospital records, including day case care, for all subjects in a defined geographical area. From these sources, we identified cases of hospitalised IM up to the age of 30 years in people for whom the ORLS had a maternity record; and we compared perinatal factors in their pregnancy with those in the pregnancy of children who had no hospital record of IM. Results Our data showed a significant association between hospitalised IM and lower social class (p = 0.02), a higher risk of hospitalised IM in children of married rather than single mothers (p < 0.001), and, of marginal statistical significance, an association with singleton birth (p = 0.06). The ratio of observed to expected cases of hospitalised IM in each season was 0.95 in winter, 1.02 in spring, 1.02 in summer and 1.00 in autumn. The chi-square test for seasonality, with a value of 0.8, was not significant. Other factors studied, including low birth weight, short gestational age, maternal smoking, late age at motherhood, did not increase the risk of subsequent hospitalised IM. Conclusions Because of the increasing tendency of women to postpone childbearing, it is useful to know that older age at motherhood is not associated with an increased risk of hospitalised IM in their children. We have no explanation for the finding that children of married women

  18. Detecting referral and selection bias by the anonymous linkage of practice, hospital and clinic data using Secure and Private Record Linkage (SAPREL: case study from the evaluation of the Improved Access to Psychological Therapy (IAPT service

    Parry Glenys

    2011-10-01

    Full Text Available Abstract Background The evaluation of demonstration sites set up to provide improved access to psychological therapies (IAPT comprised the study of all people identified as having common mental health problems (CMHP, those referred to the IAPT service, and a sample of attenders studied in-depth. Information technology makes it feasible to link practice, hospital and IAPT clinic data to evaluate the representativeness of these samples. However, researchers do not have permission to browse and link these data without the patients' consent. Objective To demonstrate the use of a mixed deterministic-probabilistic method of secure and private record linkage (SAPREL - to describe selection bias in subjects chosen for in-depth evaluation. Method We extracted, pseudonymised and used fuzzy logic to link multiple health records without the researcher knowing the patient's identity. The method can be characterised as a three party protocol mainly using deterministic algorithms with dynamic linking strategies; though incorporating some elements of probabilistic linkage. Within the data providers' safe haven we extracted: Demographic data, hospital utilisation and IAPT clinic data; converted post code to index of multiple deprivation (IMD; and identified people with CMHP. We contrasted the age, gender, ethnicity and IMD for the in-depth evaluation sample with people referred to IAPT, use hospital services, and the population as a whole. Results The in IAPT-in-depth group had a mean age of 43.1 years; CI: 41.0 - 45.2 (n = 166; the IAPT-referred 40.2 years; CI: 39.4 - 40.9 (n = 1118; and those with CMHP 43.6 years SEM 0.15. (n = 12210. Whilst around 67% of those with a CMHP were women, compared to 70% of those referred to IAPT, and 75% of those subject to in-depth evaluation (Chi square p Conclusions The sample studied in-depth were older, more likely female, and less deprived than people with CMHP, and fewer had recorded ethnic minority status. Anonymous

  19. No association between metal allergy and cardiac in-stent restenosis in patients with dermatitis-results from a linkage study

    Thyssen, Jacob P; Engkilde, Kåre; Menné, Torkil

    2011-01-01

    Background. Percutaneous coronary intervention (PCI) with implantation of a metal stent is a common procedure performed in patients with symptomatic ischaemic heart disease. Intracoronary stents typically have a backbone of stainless steel, which contains nickel, chromium, and molybdenum, and it ......Background. Percutaneous coronary intervention (PCI) with implantation of a metal stent is a common procedure performed in patients with symptomatic ischaemic heart disease. Intracoronary stents typically have a backbone of stainless steel, which contains nickel, chromium, and molybdenum......, and it remains unclear whether individuals who are allergic to these metals have an increased risk of restenosis after PCI with stent implantation. Objectives. To further evaluate whether dermatitis patients with nickel and/or chromium allergy had an increased risk of developing cardiac in-stent restenosis...... with stainless steel stents. Methods. An individual-level linkage study was performed to identify dermatitis patients who had been patch tested with the European baseline series between 1979 and 2007 at Gentofte University Hospital (N = 18794) and who had also undergone PCI at some point in a Danish hospital...

  20. Decreasing perinatal mortality in the Netherlands, 2000-2006: a record linkage study

    Ravelli , Anita C J; Tromp , Miranda; Van Huis , Marian M; Steegers , Eric A P; Tamminga , Pieter; Eskes , Martine; Bonsel , Gouke J

    2009-01-01

    Abstract Background: The European PERISTAT-1 study showed that in 1999 perinatal mortality, especially fetal mortality, was substantially higher in the Netherlands when compared to other European countries. The aim of this study was to analyze the recent trend in Dutch perinatal mortality and the influence of risk factors. Methods: A nationwide retrospective cohort study of 1,246,440 singleton births in 2000-2006 in the Netherlands. The source data were available fro...

  1. Genome-wide linkage scan to identify loci associated with type 2 diabetes and blood lipid phenotypes in the Sikh Diabetes Study.

    Dharambir K Sanghera

    Full Text Available In this investigation, we have carried out an autosomal genome-wide linkage analysis to map genes associated with type 2 diabetes (T2D and five quantitative traits of blood lipids including total cholesterol, high-density lipoprotein (HDL cholesterol, low-density lipoprotein (LDL cholesterol, very low-density lipoprotein (VLDL cholesterol, and triglycerides in a unique family-based cohort from the Sikh Diabetes Study (SDS. A total of 870 individuals (526 male/344 female from 321 families were successfully genotyped using 398 polymorphic microsatellite markers with an average spacing of 9.26 cM on the autosomes. Results of non-parametric multipoint linkage analysis using S(all statistics (implemented in Merlin did not reveal any chromosomal region to be significantly associated with T2D in this Sikh cohort. However, linkage analysis for lipid traits using QTL-ALL analysis revealed promising linkage signals with p≤0.005 for total cholesterol, LDL cholesterol, and HDL cholesterol at chromosomes 5p15, 9q21, 10p11, 10q21, and 22q13. The most significant signal (p = 0.0011 occurred at 10q21.2 for HDL cholesterol. We also observed linkage signals for total cholesterol at 22q13.32 (p = 0.0016 and 5p15.33 (p = 0.0031 and for LDL cholesterol at 10p11.23 (p = 0.0045. Interestingly, some of linkage regions identified in this Sikh population coincide with plausible candidate genes reported in recent genome-wide association and meta-analysis studies for lipid traits. Our study provides the first evidence of linkage for loci associated with quantitative lipid traits at four chromosomal regions in this Asian Indian population from Punjab. More detailed examination of these regions with more informative genotyping, sequencing, and functional studies should lead to rapid detection of novel targets of therapeutic importance.

  2. How Stress Treatments Influence the Performance of Biodegradable Poly(Butylene Succinate-Based Copolymers with Thioether Linkages for Food Packaging Applications

    Valentina Siracusa

    2017-08-01

    Full Text Available Biodegradable poly(butylene succinate (PBS-based random copolymers containing thioether linkages (P(BSxTDGSy of various compositions have been investigated and characterized from the gas barrier, thermal, and mechanical point of view, after food contact simulants or thermal and photoaging processes. Each stress treatment was performed on thin films and the results obtained have been compared to the same untreated film, used as a standard. Barrier properties with different gases (O2 and CO2 were evaluated, showing that the polymer chemical composition strongly influenced the permeability behavior. The relationships between the diffusion coefficients (D and solubility (S with polymer composition were also investigated. The results highlighted a correlation between polymer chemical structure and treatment. Gas transmission rate (GTR mainly depending on the performed treatment, as GTR increased with the increase of TDGS co-unit amount. Thermal and mechanical tests allowed for the recording of variations in the degree of crystallinity and in the tensile properties. An increase in the crystallinity degree was recorded after contact with simulant liquids and aging treatments, together with a molecular weight decrease, a slight enhancement of the elastic modulus and a decrement of the elongation at break, proportional to the TDGS co-unit content.

  3. How Stress Treatments Influence the Performance of Biodegradable Poly(Butylene Succinate)-Based Copolymers with Thioether Linkages for Food Packaging Applications.

    Siracusa, Valentina; Genovese, Laura; Munari, Andrea; Lotti, Nadia

    2017-08-30

    Biodegradable poly(butylene succinate) (PBS)-based random copolymers containing thioether linkages (P(BSxTDGSy)) of various compositions have been investigated and characterized from the gas barrier, thermal, and mechanical point of view, after food contact simulants or thermal and photoaging processes. Each stress treatment was performed on thin films and the results obtained have been compared to the same untreated film, used as a standard. Barrier properties with different gases (O₂ and CO₂) were evaluated, showing that the polymer chemical composition strongly influenced the permeability behavior. The relationships between the diffusion coefficients ( D ) and solubility ( S ) with polymer composition were also investigated. The results highlighted a correlation between polymer chemical structure and treatment. Gas transmission rate ( GTR ) mainly depending on the performed treatment, as GTR increased with the increase of TDGS co-unit amount. Thermal and mechanical tests allowed for the recording of variations in the degree of crystallinity and in the tensile properties. An increase in the crystallinity degree was recorded after contact with simulant liquids and aging treatments, together with a molecular weight decrease, a slight enhancement of the elastic modulus and a decrement of the elongation at break, proportional to the TDGS co-unit content.

  4. Pervasive influence of maternal and paternal criminal offending on early childhood development: a population data linkage study.

    Laurens, K R; Tzoumakis, S; Kariuki, M; Green, M J; Hamde, M; Harris, F; Carr, V J; Dean, K

    2017-04-01

    Parental criminal offending is an established risk factor for offending among offspring, but little evidence is available indicating the impact of offending on early childhood functioning. We used data from a large Australian population cohort to determine associations between exposure to parental offending and a range of developmental outcomes at age 5 years. Multi-generation data in 66 477 children and their parents from the New South Wales Child Development Study were combined using data linkage. Logistic and multinomial regressions tested associations between any and violent offending histories of parents (fathers, mothers, or both parents) obtained from official records, and multiple measures of early childhood developmental functioning (social, emotional-behavioural, cognitive, communication and physical domains) obtained from the teacher-reported 2009 Australian Early Development Census. Parental offending conferred significantly increased risk of vulnerability on all domains, particularly the cognitive domain. Greater risk magnitudes were observed for offending by both parents and by mothers than by fathers, and for violent than for any offending. For all parental offending exposures, vulnerability on multiple domains (where medium to large effects were observed) was more likely than on a single domain (small to medium effects). Relationships remained significant and of comparable magnitude following adjustment for sociodemographic covariates. The effect of parental offending on early childhood developmental outcomes is pervasive, with the strongest effects on functioning apparent when both parents engage in violent offending. Supporting affected families in early childhood might mitigate both early developmental vulnerability and the propensity for later delinquency among these offspring.

  5. Parenting self-efficacy moderates linkage between partner relationship dissatisfaction and avoidant infant-mother attachment: A Dutch study.

    Cassé, Julie F H; Oosterman, Mirjam; Schuengel, Carlo

    2016-12-01

    The early infant-mother attachment relationship is part of a network of close relationships in which the relationship between parents is especially relevant. Evidence for linkages between maternal satisfaction with the partner relationship and infant-mother attachment is equivocal. The current study tested whether associations between partner relationship dissatisfaction and infant-mother attachment quality might be conditional on mothers' parenting self-efficacy. The bivariate effect of partner relationship dissatisfaction on infant-mother attachment as well as moderation of this effect by parenting self-efficacy was tested in a sample of 260 infant-mother dyads 1 year after birth. There was no direct effect of partner dissatisfaction on attachment. Unexpectedly, for high parenting self-efficacy, greater partner dissatisfaction increased the odds of an avoidant infant attachment (compared with a disorganized) whereas, for low parenting self-efficacy, greater partner dissatisfaction decreased the odds of an avoidant infant attachment (compared with secure and disorganized). Findings underline the importance of parenting cognitions for understanding contextual factors of infant-mother attachment quality. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  6. Improving the detection of pathways in genome-wide association studies by combined effects of SNPs from Linkage Disequilibrium blocks.

    Zhao, Huiying; Nyholt, Dale R; Yang, Yuanhao; Wang, Jihua; Yang, Yuedong

    2017-06-14

    Genome-wide association studies (GWAS) have successfully identified single variants associated with diseases. To increase the power of GWAS, gene-based and pathway-based tests are commonly employed to detect more risk factors. However, the gene- and pathway-based association tests may be biased towards genes or pathways containing a large number of single-nucleotide polymorphisms (SNPs) with small P-values caused by high linkage disequilibrium (LD) correlations. To address such bias, numerous pathway-based methods have been developed. Here we propose a novel method, DGAT-path, to divide all SNPs assigned to genes in each pathway into LD blocks, and to sum the chi-square statistics of LD blocks for assessing the significance of the pathway by permutation tests. The method was proven robust with the type I error rate >1.6 times lower than other methods. Meanwhile, the method displays a higher power and is not biased by the pathway size. The applications to the GWAS summary statistics for schizophrenia and breast cancer indicate that the detected top pathways contain more genes close to associated SNPs than other methods. As a result, the method identified 17 and 12 significant pathways containing 20 and 21 novel associated genes, respectively for two diseases. The method is available online by http://sparks-lab.org/server/DGAT-path .

  7. Challenges in administrative data linkage for research

    Katie Harron

    2017-12-01

    Full Text Available Linkage of population-based administrative data is a valuable tool for combining detailed individual-level information from different sources for research. While not a substitute for classical studies based on primary data collection, analyses of linked administrative data can answer questions that require large sample sizes or detailed data on hard-to-reach populations, and generate evidence with a high level of external validity and applicability for policy making. There are unique challenges in the appropriate research use of linked administrative data, for example with respect to bias from linkage errors where records cannot be linked or are linked together incorrectly. For confidentiality and other reasons, the separation of data linkage processes and analysis of linked data is generally regarded as best practice. However, the ‘black box’ of data linkage can make it difficult for researchers to judge the reliability of the resulting linked data for their required purposes. This article aims to provide an overview of challenges in linking administrative data for research. We aim to increase understanding of the implications of (i the data linkage environment and privacy preservation; (ii the linkage process itself (including data preparation, and deterministic and probabilistic linkage methods and (iii linkage quality and potential bias in linked data. We draw on examples from a number of countries to illustrate a range of approaches for data linkage in different contexts.

  8. Cancer in the offspring of radiation workers: A summary of the record linkage study

    Draper, G.J. [University of Oxford (United Kingdom). Childhood Cancer Research Group; Little, M.P. [National Radiological Protection Board, Chilton (United Kingdom); Sorahan, T. [Birmingham University (United Kingdom). Inst. of Occupational Health] [and others

    1997-12-01

    A national study has been conducted to test the Gardner hypothesis`, that childhood leukaemia and non-Hodgkin lymphoma can be caused by paternal exposure to ionising radiation before the conception of the child, and, more generally, to investigate whether preconception radiation exposure of either parent is a cause of childhood cancer. (UK).

  9. Suicide risk in relation to level of urbanicity - a population-based linkage study

    Qin, Ping

    2005-01-01

    BACKGROUND: The extent to which the high suicide rate in urban areas is influenced by exposures to risk factors for suicide other than urbanicity remains unknown. This population-based study aims to investigate suicide risk in relation to the level of urbanicity in the context of other factors...

  10. Knowledge linkage structures in communication studies using citation analysis among communication journals

    Park, H.W.; Leydesdorff, L.

    2009-01-01

    This research analyzes a "who cites whom" matrix in terms of aggregated journal-journal citations to determine the location of communication studies on the academic spectrum. Using the Journal of Communication as the seed journal, the 2006 data in the Journal Citation Reports are used to map

  11. ABO Blood Group and Dementia Risk--A Scandinavian Record-Linkage Study

    Vasan, Senthil K; Rostgaard, Klaus; Ullum, Henrik

    2015-01-01

    ,615 cases of Alzheimer's disease, 1,842 cases of vascular dementia, and 9,091 cases of unspecified dementia. Overall, our study showed no association between ABO blood group and risk of Alzheimer's disease, vascular dementia or unspecified dementia. This was also true when analyses were restricted to donors......BACKGROUND: Dementia includes a group of neuro-degenerative disorders characterized by varying degrees of cognitive impairment. Recent data indicates that blood group AB is associated with impaired cognition in elderly patients. To date there are no large-scale studies that have examined...... the relationship between ABO blood group and dementia-related disorders in detail. METHODS: We used data from the SCANDAT2 database that contains information on over 1.6 million blood donors from 1968 in Sweden and 1981 from Denmark. The database was linked with health outcomes data from nationwide patient...

  12. Suicide risk in relation to level of urbanicity - a population-based linkage study

    Qin, Ping

    2005-01-01

    from various Danish longitudinal registers. Data were analysed with conditional logistic regression. RESULTS: This study confirms that people living in more urbanized areas are at a higher risk of suicide than their counterparts in less urbanized areas. However, this excess risk is largely eliminated...... when adjusted for personal marital, income, and ethnic differences; it is even reversed when further adjusted for psychiatric status. Moreover, the impact of urbanicity on suicide risk differs significantly by sex and across age. Urban living reduces suicide risk significantly among men, especially......BACKGROUND: The extent to which the high suicide rate in urban areas is influenced by exposures to risk factors for suicide other than urbanicity remains unknown. This population-based study aims to investigate suicide risk in relation to the level of urbanicity in the context of other factors...

  13. End-stage renal disease and survival in people with diabetes: a national database linkage study

    Bell, S.; Fletcher, E.H.; Brady, I.; Looker, H.C.; Levin, D.; Joss, N.; Traynor, J.P.; Metcalfe, W.; Conway, B.; Livingstone, S.; Leese, G.; Philip, S.; Wild, S.; Halbesma, N.; Sattar, N.

    2014-01-01

    Background: Increasing prevalence of diabetes worldwide is projected to lead to an increase in patients with end-stage renal disease (ESRD) requiring renal replacement therapy (RRT).Aim: To provide contemporary estimates of the prevalence of ESRD and requirement for RRT among people with diabetes in a nationwide study and to report associated survival.Methods: Data were extracted and linked from three national databases: Scottish Renal Registry, Scottish Care Initiative-Diabetes Collaboration...

  14. The Linkage between China’s Foreign Direct Investment and Ghana’s Building and Construction Sector Performance

    Kwasi BOAKYE-GYASI

    2016-11-01

    Full Text Available Over the years, China has contributed immensely to the development process of Ghana through foreign direct investments; providing financial aids’ improved management training skills, and the transfer of innovation and technological techniques. This research examines the relationship between China’s foreign direct investment and Ghana’s building and construction sector performance. By using a robust regression model, the results show that China’s FDI in Ghana’s building and construction sector has significant positive effect on the economic growth of Ghana due to strong increase in investors’ confidence in the Ghanaian economy. Thus, FDI contributes to economic growth when there is an improvement of the infrastructure and operational skills of the local building and construction companies. This will lead to the increase of revenue for citizens who are employed in this sector and thus leading to the overall economic development of the country.

  15. Long working hours and use of psychotropic medicine: a follow-up study with register linkage.

    Hannerz, Harald; Albertsen, Karen

    2016-03-01

    This study aimed to investigate the possibility of a prospective association between long working hours and use of psychotropic medicine. Survey data drawn from random samples of the general working population of Denmark in the time period 1995-2010 were linked to national registers covering all inhabitants. The participants were followed for first occurrence of redeemed prescriptions for psychotropic medicine. The primary analysis included 25,959 observations (19,259 persons) and yielded a total of 2914 new cases of psychotropic drug use in 99,018 person-years at risk. Poisson regression was used to model incidence rates of redeemed prescriptions for psychotropic medicine as a function of working hours (32-40, 41-48, >48 hours/week). The analysis was controlled for gender, age, sample, shift work, and socioeconomic status. A likelihood ratio test was used to test the null hypothesis, which stated that the incidence rates were independent of weekly working hours. The likelihood ratio test did not reject the null hypothesis (P=0.085). The rate ratio (RR) was 1.04 [95% confidence interval (95% CI) 0.94-1.15] for the contrast 41-48 versus 32-40 work hours/week and 1.15 (95% CI 1.02-1.30) for >48 versus 32-40 hours/week. None of the rate ratios that were estimated in the present study were statistically significant after adjustment for multiple testing. However, stratified analyses, in which 30 RR were estimated, generated the hypothesis that overtime work (>48 hours/week) might be associated with an increased risk among night or shift workers (RR=1.51, 95% CI 1.15-1.98). The present study did not find a statistically significant association between long working hours and incidence of psychotropic drug usage among Danish employees.

  16. Congenital anomalies in children with cerebral palsy: a population-based record linkage study

    Rankin, Judith; Cans, Christine; Garne, Ester

    2009-01-01

    Aim Our aim was to determine the proportion of children with cerebral palsy (CP) who have a congenital anomaly (CA) in three regions (Isère Region, French Alps; Funen County, Denmark; Northern Region, England) where population-based CP and CA registries exist, and to classify the children according...... to CA subtype. Method Data for children born between 1991 and 1999 were linked using electronic matching of cases. All potential matches were checked manually by each centre and verified as true matches. Results A total of 1104 children with CP were born during the study period (663 males, 441 females...

  17. High-Resolution Genome-Wide Linkage Mapping Identifies Susceptibility Loci for BMI in the Chinese Population

    Zhang, Dong Feng; Pang, Zengchang; Li, Shuxia

    2012-01-01

    The genetic loci affecting the commonly used BMI have been intensively investigated using linkage approaches in multiple populations. This study aims at performing the first genome-wide linkage scan on BMI in the Chinese population in mainland China with hypothesis that heterogeneity in genetic...... linkage could exist in different ethnic populations. BMI was measured from 126 dizygotic twins in Qingdao municipality who were genotyped using high-resolution Affymetrix Genome-Wide Human SNP arrays containing about 1 million single-nucleotide polymorphisms (SNPs). Nonparametric linkage analysis...... in western countries. Multiple loci showing suggestive linkage were found on chromosome 1 (lod score 2.38 at 242 cM), chromosome 8 (2.48 at 95 cM), and chromosome 14 (2.2 at 89.4 cM). The strong linkage identified in the Chinese subjects that is consistent with that found in populations of European origin...

  18. Cancer in the offspring of radiation workers - a record linkage study

    Draper, G.J. [Childhood Cancer Research Group, University of Oxford (United Kingdom); Little, M.P. [National Radiological Protection Board, Chilton (United Kingdom); Sorahan, T. [Institute of Occupational Health, University of Birmingham (United Kingdom)] [and others

    1997-12-31

    The objectives of this study were to test the `Gardner hypothesis` that childhood leukaemia and non-Hodgkin lymphoma can be caused by paternal exposure to ionising radiation before the conception of the child, and more generally, to investigate whether such radiation exposure of either parent is a cause of childhood cancer. This was a case-control study, conducted in Great Britain, that involved 35,949 children diagnosed as having cancer, together with matched controls. Examination was made of: parental employment as radiation worker as defined by inclusion in the National Registry for Radiation Workers and being monitored for external radiation before conception of child; cumulative dose of external ionising radiation for various periods of employment before conception; pregnancy dose. It is concluded that the results do not support the hypothesis that paternal preconception irradiation is a cause of childhood leukaemia and non-Hodgkin lymphoma; the observed associations may be chance or result from exposure to infective or other agents. If there is any increased risk for the children of fathers who are radiation workers it is small in absolute terms: in Britain the average risk by age 15 years is 6.5 per 10,000; our best estimate, using all available data, is that the increase is 5.4 per 10,000. For mothers, the numbers are too small for reliable estimates of the risk, if any, to be made. (author).

  19. Cancer in the offspring of radiation workers - a record linkage study

    Draper, G.J.; Little, M.P.; Sorahan, T.

    1997-01-01

    The objectives of this study were to test the 'Gardner hypothesis' that childhood leukaemia and non-Hodgkin lymphoma can be caused by paternal exposure to ionising radiation before the conception of the child, and more generally, to investigate whether such radiation exposure of either parent is a cause of childhood cancer. This was a case-control study, conducted in Great Britain, that involved 35,949 children diagnosed as having cancer, together with matched controls. Examination was made of: parental employment as radiation worker as defined by inclusion in the National Registry for Radiation Workers and being monitored for external radiation before conception of child; cumulative dose of external ionising radiation for various periods of employment before conception; pregnancy dose. It is concluded that the results do not support the hypothesis that paternal preconception irradiation is a cause of childhood leukaemia and non-Hodgkin lymphoma; the observed associations may be chance or result from exposure to infective or other agents. If there is any increased risk for the children of fathers who are radiation workers it is small in absolute terms: in Britain the average risk by age 15 years is 6.5 per 10,000; our best estimate, using all available data, is that the increase is 5.4 per 10,000. For mothers, the numbers are too small for reliable estimates of the risk, if any, to be made. (author)

  20. Mortality following Stroke, the Weekend Effect and Related Factors: Record Linkage Study.

    Stephen E Roberts

    Full Text Available Increased mortality following hospitalisation for stroke has been reported from many but not all studies that have investigated a 'weekend effect' for stroke. However, it is not known whether the weekend effect is affected by factors including hospital size, season and patient distance from hospital.To assess changes over time in mortality following hospitalisation for stroke and how any increased mortality for admissions on weekends is related to factors including the size of the hospital, seasonal factors and distance from hospital.A population study using person linked inpatient, mortality and primary care data for stroke from 2004 to 2012. The outcome measures were, firstly, mortality at seven days and secondly, mortality at 30 days and one year.Overall mortality for 37 888 people hospitalised following stroke was 11.6% at seven days, 21.4% at 30 days and 37.7% at one year. Mortality at seven and 30 days fell significantly by 1.7% and 3.1% per annum respectively from 2004 to 2012. When compared with week days, mortality at seven days was increased significantly by 19% for admissions on weekends, although the admission rate was 21% lower on weekends. Although not significant, there were indications of increased mortality at seven days for weekend admissions during winter months (31%, in community (81% rather than large hospitals (8% and for patients resident furthest from hospital (32% for distances of >20 kilometres. The weekend effect was significantly increased (by 39% for strokes of 'unspecified' subtype.Mortality following stroke has fallen over time. Mortality was increased for admissions at weekends, when compared with normal week days, but may be influenced by a higher stroke severity threshold for admission on weekends. Other than for unspecified strokes, we found no significant variation in the weekend effect for hospital size, season and distance from hospital.

  1. ABO Blood Group and Dementia Risk--A Scandinavian Record-Linkage Study.

    Senthil K Vasan

    Full Text Available Dementia includes a group of neuro-degenerative disorders characterized by varying degrees of cognitive impairment. Recent data indicates that blood group AB is associated with impaired cognition in elderly patients. To date there are no large-scale studies that have examined the relationship between ABO blood group and dementia-related disorders in detail.We used data from the SCANDAT2 database that contains information on over 1.6 million blood donors from 1968 in Sweden and 1981 from Denmark. The database was linked with health outcomes data from nationwide patient and cause of death registers to investigate the relationship between blood groups and risk of different types of dementia. The incident rate ratios were estimated using log-linear Poisson regression models.Among 1,598,294 donors followed over 24 million person-years of observation we ascertained 3,615 cases of Alzheimer's disease, 1,842 cases of vascular dementia, and 9,091 cases of unspecified dementia. Overall, our study showed no association between ABO blood group and risk of Alzheimer's disease, vascular dementia or unspecified dementia. This was also true when analyses were restricted to donors aged 70 years or older except for a slight, but significantly decreased risk of all dementia combined in subjects with blood group A (IRR, 0.93; 95% confidence interval [CI], 0.88-0.98, compared to those with blood group O.Our results provide no evidence that ABO blood group influences the risk of dementia.

  2. Ethnic variations in five lower gastrointestinal diseases: Scottish Health and Ethnicity Linkage Study

    Bhopal, Raj S; Cezard, Genevieve; Bansal, Narinder; Ward, Hester J T; Bhala, Neeraj

    2014-01-01

    Objectives Our objective was to augment the limited evidence mainly from local, clinical studies of ethnic differences in gastrointestinal disorders. Our question was: are there ethnic variations in hospitalisation/death for lower gastrointestinal disorders in Scotland? Setting Scotland. Population This retrospective-cohort linked 4.65 (of 4.9) million people in the 2001 census of Scotland (providing data on ethnicity, country of birth and indicators of socioeconomic deprivation) to 9 years of National Health Service hospitalisation and death records. Primary and secondary outcome measures and analysis For appendicitis, we studied all ages; for irritable bowel syndrome, ulcerative colitis, Crohn's disease and diverticular disease, we included those ≥20 years. Using Poisson regression (robust variance) we calculated, by ethnic group and sex, first-hospitalisation/death age-adjusted rates per 100 000 person-years, and relative risks (RRs) with 95% CIs multiplied by 100, so the White Scottish reference population had an RR=100. Results There were ethnic variations; for example, for irritable bowel syndrome, RRs (95% CIs) were comparatively high in Other White British women (128.4 (111.0 to 148.6)), and low in Pakistani women (75.1 (60.6 to 93.1)). For appendicitis, RRs were high in men in Other White British (145.2 (127.8 to 164.9)), and low in most non-White groups, for example, Pakistanis (73.8 (56.9 to 95.6)). For ulcerative colitis, RRs were high in Indian (169.8 (109.7 to 262.7)) and Pakistani (160.8 (104.2 to 248.2)) men. For Crohn's disease, the RR was high in Pakistani men (209.2 (149.6 to 292.6)). For diverticular disease, RRs were high in Irish men (176.0 (156.9 to 197.5)), and any Mixed background women (144.6 (107.4 to 194.8)), and low in most non-White groups, for example, Chinese men (47.1 (31.0 to 71.6) and women (46.0 (30.4 to 69.8)). Conclusions Appendicitis and diverticular disease were comparatively low in most non-White groups, while

  3. Cigarette smoking and tooth loss experience among young adults: a national record linkage study

    Tanaka Keiko

    2007-11-01

    Full Text Available Abstract Background Various factors affect tooth loss in older age including cigarette smoking; however, evidence regarding the association between smoking and tooth loss during young adulthood is limited. The present study examined the association between cigarette smoking and tooth loss experience among adults aged 20–39 years using linked data from two national databases in Japan. Methods Two databases of the National Nutrition Survey (NNS and the Survey of Dental Diseases (SDD, which were conducted in 1999, were obtained from the Ministry of Health, Labor and Welfare with permission for analytical use. In the NNS, participants received physical examinations and were interviewed regarding dietary intake and health practices including cigarette smoking, whereas in the SDD, participants were asked about their frequency of daily brushing, and received oral examinations by certified dentists. Among 6,805 records electronically linked via household identification code, 1314 records of individuals aged 20 to 39 years were analyzed. The prevalence of 1+ tooth loss was compared among non-, former, and current smokers. Multiple logistic regression models were constructed including confounders: frequency of tooth brushing, body mass index, alcohol consumption, and intake of vitamins C and E. Results Smoking rates differed greatly in men (53.3% and women (15.5%. The overall prevalence of tooth loss was 31.4% (31.8% men and 31.1% women. Tooth loss occurred more frequently among current smokers (40.6% than former (23.1% and non-smokers (27.9%. Current smoking showed a significant association with 1+ tooth loss in men (adjusted OR = 2.21 [1.40–3.50], P = 0.0007 and women (1.70 [1.13–2.55], P = 0.0111. A significant positive exposure-related relationship between cigarette smoking status and tooth loss was observed (P for trend Conclusion An association between cigarette smoking and tooth loss was evident among young adults throughout Japan. Due to

  4. Myocardial infarction incidence and survival by ethnic group: Scottish Health and Ethnicity Linkage retrospective cohort study.

    Bansal, Narinder; Fischbacher, Colin M; Bhopal, Raj S; Brown, Helen; Steiner, Markus Fc; Capewell, Simon

    2013-09-13

    Inequalities in coronary heart disease mortality by country of birth are large and poorly understood. However, these data misclassify UK-born minority ethnic groups and provide little detail on whether excess risk is due to increased incidence, poorer survival or both. Retrospective cohort study. General resident population of Scotland. All those residing in Scotland during the 2001 Census were eligible for inclusion: 2 972 120 people were included in the analysis. The number still residing in Scotland at the end of the study in 2008 is not known. As specified in the analysis plan, the primary outcome measures were first occurrence of admission or death due to myocardial infarction and time to event. There were no secondary outcome measures. Acute myocardial infarction (AMI) incidence risk ratios (95% CIs) relative to white Scottish populations (100) were highest among Pakistani men (164.1 (142.2 to 189.2)) and women (153.7 (120.5, 196.1)) and lowest for men and women of Chinese (39.5 (27.1 to 57.6) and 59.1 (38.6 to 90.7)), other white British (77 (74.2 to 79.8) and 72.2 (69.0 to 75.5)) and other white (83.1 (75.9 to 91.0) and 79.9 (71.5 to 89.3)) ethnic groups. Adjustment for educational qualification did not eliminate these differences. Cardiac intervention uptake was similar across most ethnic groups. Compared to white Scottish, 28-day survival did not differ by ethnicity, except in Pakistanis where it was better, particularly in women (0.44 (0.25 to 0.78)), a difference not removed by adjustment for education, travel time to hospital or cardiac intervention uptake. Pakistanis have the highest incidence of AMI in Scotland, a country renowned for internationally high cardiovascular disease rates. In contrast, survival is similar or better in minority ethnic groups. Clinical care and policy should focus on reducing incidence among Pakistanis through more aggressive prevention.

  5. Use of acute care hospital services by immigrant seniors in Ontario: A linkage study.

    Ng, Edward; Sanmartin, Claudia; Tu, Jack; Manuel, Doug

    2014-10-01

    Seniors constitute the largest group of hospital users. The increasing share of immigrants in Canada's senior population can affect the demand for hospital care. This study used the linked 2006 Census-Hospital Discharge Abstract Database to examine hospitalization during the 2004-to-2006 period, by immigrant status, of Ontario seniors living in the community. Hospitalization was assessed with logistic regressions; cumulative length of stay, with zero-truncated negative binomial regressions. All-cause hospitalization and hospitalizations specific to circulatory and digestive diseases were examined. Immigrant seniors had significantly low age-/sex-adjusted odds of hospitalization, compared with Canadian-born seniors (OR = 0.81). The odds varied from 0.4 among East Asians to 0.89 among Europeans, and rose with length of time since arrival from 0.54 for recent (1994 to 2003) to 0.86 for long-term (before 1984) immigrants. Adjustment for demographic and socio-economic characteristics did not change the overall patterns. Immigrants' cumulated length of hospital stay tended to be shorter than or similar to that of Canadian-born seniors. Immigrant seniors, especially recent arrivals, had lower odds of hospitalization and similar time in hospital, compared with Canadian-born seniors. These patterns likely reflect differences in health status. Variations by world region and disease reflect the diverse health care needs of immigrant seniors.

  6. Clostridium difficile Infections amongst Patients with Haematological Malignancies: A Data Linkage Study.

    Linda A Selvey

    Full Text Available Identify risk factors for Clostridium difficile infection (CDI and assess CDI outcomes among Australian patients with a haematological malignancy.A retrospective cohort study involving all patients admitted to hospitals in Western Australia with a haematological malignancy from July 2011 to June 2012. Hospital admission data were linked with all hospital investigated CDI case data. Potential risk factors were assessed by logistic regression. The risk of death within 60 and 90 days of CDI was assessed by Cox Proportional Hazards regression.There were 2085 patients of whom 65 had at least one CDI. Twenty percent of CDI cases were either community-acquired, indeterminate source or had only single-day admissions in the 28 days prior to CDI. Using logistic regression, having acute lymphocytic leukaemia, neutropenia and having had bacterial pneumonia or another bacterial infection were associated with CDI. CDI was associated with an increased risk of death within 60 and 90 days post CDI, but only two deaths had CDI recorded as an antecedent factor. Ribotyping information was available for 33 of the 65 CDIs. There were 19 different ribotypes identified.Neutropenia was strongly associated with CDI. While having CDI is a risk factor for death, in many cases it may not be a direct contributor to death but may reflect patients having higher morbidity. A wide variety of C. difficile ribotypes were found and community-acquired infection may be under-estimated in these patients.

  7. Antecedents of teenage pregnancy from a 14-year follow-up study using data linkage.

    Gaudie, Jennifer; Mitrou, Francis; Lawrence, David; Stanley, Fiona J; Silburn, Sven R; Zubrick, Stephen R

    2010-02-11

    Many western nations continue to have high rates of teenage pregnancies and births, which can result in adverse outcomes for both mother and child. This study identified possible antecedents of teenage pregnancy using linked data from administrative sources to create a 14-year follow-up from a cross-sectional survey. Data were drawn from two sources - the 1993 Western Australian Child Health Survey (WACHS), a population-based representative sample of 2,736 children aged 4 to 16 years (1,374 girls); and administrative data relating to all their subsequent births and hospital admissions. We used weighted population estimates to examine differences between rates for teenage pregnancy, motherhood and abortion. We used Cox proportional hazards regression to model risk for teenage pregnancy. There were 155 girls aged less than 20 years at the time of their first recorded pregnancy. Teenage pregnancy was significantly associated with: family type; highest school year completed by primary carer; combined carer income; whether the primary carer was a smoker; and whether the girl herself displayed aggressive and delinquent behaviours. An age-interaction analysis on the association with aggressive and delinquent behaviours found that while girls with aggressive and delinquent behaviours who were older at the time of the survey were at highest risk of teenage pregnancy, there was elevated risk for future teenage pregnancy across all ages. Our findings suggest that interventions to reduce teenage pregnancy rates could be introduced during primary school years, including those that are focused on the prevention and management of aggressive and delinquent behaviour.

  8. Antecedents of teenage pregnancy from a 14-year follow-up study using data linkage

    Stanley Fiona J

    2010-02-01

    Full Text Available Abstract Background Many western nations continue to have high rates of teenage pregnancies and births, which can result in adverse outcomes for both mother and child. This study identified possible antecedents of teenage pregnancy using linked data from administrative sources to create a 14-year follow-up from a cross-sectional survey. Methods Data were drawn from two sources - the 1993 Western Australian Child Health Survey (WACHS, a population-based representative sample of 2,736 children aged 4 to 16 years (1,374 girls; and administrative data relating to all their subsequent births and hospital admissions. We used weighted population estimates to examine differences between rates for teenage pregnancy, motherhood and abortion. We used Cox proportional hazards regression to model risk for teenage pregnancy. Results There were 155 girls aged less than 20 years at the time of their first recorded pregnancy. Teenage pregnancy was significantly associated with: family type; highest school year completed by primary carer; combined carer income; whether the primary carer was a smoker; and whether the girl herself displayed aggressive and delinquent behaviours. An age-interaction analysis on the association with aggressive and delinquent behaviours found that while girls with aggressive and delinquent behaviours who were older at the time of the survey were at highest risk of teenage pregnancy, there was elevated risk for future teenage pregnancy across all ages. Conclusions Our findings suggest that interventions to reduce teenage pregnancy rates could be introduced during primary school years, including those that are focused on the prevention and management of aggressive and delinquent behaviour.

  9. Workplace bullying and subsequent psychotropic medication: a cohort study with register linkages

    Lallukka, Tea; Haukka, Jari; Partonen, Timo; Rahkonen, Ossi; Lahelma, Eero

    2012-01-01

    Objectives We aimed to examine longitudinally whether workplace bullying was associated with subsequent psychotropic medication among women and men. Design A cohort study. Setting Helsinki, Finland. Participants Employees of the City of Helsinki, Finland (n=6606, 80% women), 40–60 years at baseline in 2000–2002, and a register-based follow-up on medication. Primary and secondary outcome measures Workplace bullying comprised questions about current and earlier bullying as well as observing bullying. The Finnish Social Insurance Institution's register data on purchases of prescribed reimbursed psychotropic medication were linked with the survey data. All psychotropic medication 3 years prior to and 5 years after the baseline survey was included. Covariates included age, prior psychotropic medication, childhood bullying, occupational class, and body mass index. Cox proportional hazard models (HR, 95% CI) were fitted and days until the first purchase of prescribed psychotropic medication after baseline were used as the time axis. Results Workplace bullying was associated with subsequent psychotropic medication after adjusting for age and prior medication among both women (HR 1.51, 95% CI 1.18 to 1.93) and men (HR 2.15, 95% CI 1.36 to 3.41). Also observing bullying was associated with subsequent psychotropic medication among women (HR 1.53, 95% CI 1.25 to 1.88) and men (HR 1.92, 95% CI 1.23 to 2.99). The associations only modestly attenuated after full adjustment. Conclusions Our findings highlight the significance of workplace bullying to subsequent psychotropic medication reflecting medically confirmed mental problems. Tackling workplace bullying likely helps prevent mental problems among employees. PMID:23242240

  10. Working conditions as risk factors for disability retirement: a longitudinal register linkage study

    2012-01-01

    Background Early retirement due to disability is a public health and work environment problem that shortens working careers. Transition to disability retirement is based on ill-health, but working conditions are also of relevance. We examined the contributions of work arrangements, physical working conditions and psychosocial working conditions to subsequent disability retirement. Methods The data were derived from the Helsinki Health Study cohort on employees of the City of Helsinki, Finland. Information on working conditions was obtained from the baseline surveys conducted in 2000, 2001 and 2002. These data were linked with register data on disability retirement and their main diagnoses obtained from the Finnish Centre for Pensions. Follow up by the end of 2008 yielded 525 disability retirement events. The analysed data included 6525 participants and 525 disability retirement events. Hazard ratios (HR) and 95% confidence intervals (95% CI) were calculated from Cox regression analysis. Results Several working conditions showed own associations with disability retirement before adjustment. After adjustment for all working conditions, the primary risk factors for all-cause disability retirement were physical workload among women (HR 2.02, 95% CI 1.57-2.59) and men (HR 2.00, 95% CI 1.18-3.38), and low job control among women (HR 1.60, 95% CI 1.29-1.99). In addition, for disability retirement due to musculoskeletal causes, the risk factors were physical workload and low job control. For disability retirement due to mental causes the risk factors were computer work and low job control. Furthermore, occupational class was a risk factor for disability retirement due to all causes and musculoskeletal diseases. Conclusions Among various working conditions, those that are physically demanding and those that imply low job control are potential risk factors for disability retirement. Improving the physical working environment and enhancing control over one’s job is likely

  11. Cervical and breast cancer screening uptake among women with serious mental illness: a data linkage study.

    Woodhead, Charlotte; Cunningham, Ruth; Ashworth, Mark; Barley, Elizabeth; Stewart, Robert J; Henderson, Max J

    2016-10-21

    Breast and cancer screening uptake has been found to be lower among women with serious mental illness (SMI). This study aims to corroborate these findings in the UK and to identify variation in screening uptake by illness/treatment factors, and primary care consultation frequency. Linked population-based primary and secondary care data from the London borough of Lambeth (UK) were used to compare breast and cervical screening receipt among linked eligible SMI patients (n = 625 and n = 1393), to those without SMI known only to primary care (n = 106,554 and n = 25,385) using logistic regression models adjusted first for socio-demographic factors and second, additionally for primary care consultation frequency. Eligible SMI patients were less likely to have received breast (adjusted odds ratio (OR) 0.69, 95 % confidence interval (CI), 0.57 - 0.84, p screening (adjusted OR 0.72, CI: 0.60 - 0.85, p breast (adjusted ORs 0.46 to 0.59, all p screening (adjusted ORs 0.48 - 0.65, all p screening. Women with SMI are less likely to receive breast and cervical cancer screening than comparable women without SMI. Higher primary care consultation rates among SMI patients is likely a mediating factor between SMI status and uptake, particularly for cervical screening - a service organised in primary care. To tackle health disparities linked to SMI, efforts at increasing screening uptake are key and should be targeted at women with other markers of illness severity or risk, beyond SMI status alone.

  12. Risk of venous thromboembolism in people admitted to hospital with selected immune-mediated diseases: record-linkage study

    Handel Adam E

    2011-01-01

    Full Text Available Abstract Background Venous thromboembolism (VTE is a common complication during and after a hospital admission. Although it is mainly considered a complication of surgery, it often occurs in people who have not undergone surgery, with recent evidence suggesting that immune-mediated diseases may play a role in VTE risk. We, therefore, decided to study the risk of deep vein thrombosis (DVT and pulmonary embolism (PE in people admitted to hospital with a range of immune-mediated diseases. Methods We analysed databases of linked statistical records of hospital admissions and death certificates for the Oxford Record Linkage Study area (ORLS1:1968 to 1998 and ORLS2:1999 to 2008 and the whole of England (1999 to 2008. Rate ratios for VTE were determined, comparing immune-mediated disease cohorts with comparison cohorts. Results Significantly elevated risks of VTE were found, in all three populations studied, in people with a hospital record of admission for autoimmune haemolytic anaemia, chronic active hepatitis, dermatomyositis/polymyositis, type 1 diabetes mellitus, multiple sclerosis, myasthenia gravis, myxoedema, pemphigus/pemphigoid, polyarteritis nodosa, psoriasis, rheumatoid arthritis, Sjogren's syndrome, and systemic lupus erythematosus. Rate ratios were considerably higher for some of these diseases than others: for example, for systemic lupus erythematosus the rate ratios were 3.61 (2.36 to 5.31 in the ORLS1 population, 4.60 (3.19 to 6.43 in ORLS2 and 3.71 (3.43 to 4.02 in the England dataset. Conclusions People admitted to hospital with immune-mediated diseases may be at an increased risk of subsequent VTE. Our findings need independent confirmation or refutation; but, if confirmed, there may be a role for thromboprophylaxis in some patients with these diseases.

  13. Linkage analysis using co-phenotypes in the BRIGHT study reveals novel potential susceptibility loci for hypertension.

    Wallace, Chris; Xue, Ming-Zhan; Newhouse, Stephen J; Marcano, Ana Carolina B; Onipinla, Abiodun K; Burke, Beverley; Gungadoo, Johannie; Dobson, Richard J; Brown, Morris; Connell, John M; Dominiczak, Anna; Lathrop, G Mark; Webster, John; Farrall, Martin; Mein, Charles; Samani, Nilesh J; Caulfield, Mark J; Clayton, David G; Munroe, Patricia B

    2006-08-01

    Identification of the genetic influences on human essential hypertension and other complex diseases has proved difficult, partly because of genetic heterogeneity. In many complex-trait resources, additional phenotypic data have been collected, allowing comorbid intermediary phenotypes to be used to characterize more genetically homogeneous subsets. The traditional approach to analyzing covariate-defined subsets has typically depended on researchers' previous expectations for definition of a comorbid subset and leads to smaller data sets, with a concomitant attrition in power. An alternative is to test for dependence between genetic sharing and covariates across the entire data set. This approach offers the advantage of exploiting the full data set and could be widely applied to complex-trait genome scans. However, existing maximum-likelihood methods can be prohibitively computationally expensive, especially since permutation is often required to determine significance. We developed a less computationally intensive score test and applied it to biometric and biochemical covariate data, from 2,044 sibling pairs with severe hypertension, collected by the British Genetics of Hypertension (BRIGHT) study. We found genomewide-significant evidence for linkage with hypertension and several related covariates. The strongest signals were with leaner-body-mass measures on chromosome 20q (maximum LOD = 4.24) and with parameters of renal function on chromosome 5p (maximum LOD = 3.71). After correction for the multiple traits and genetic locations studied, our global genomewide P value was .046. This is the first identity-by-descent regression analysis of hypertension to our knowledge, and it demonstrates the value of this approach for the incorporation of additional phenotypic information in genetic studies of complex traits.

  14. Mapping autism risk loci using genetic linkage and chromosomal rearrangements

    Szatmari, Peter; Paterson, Andrew; Zwaigenbaum, Lonnie; Roberts, Wendy; Brian, Jessica; Liu, Xiao-Qing; Vincent, John; Skaug, Jennifer; Thompson, Ann; Senman, Lili; Feuk, Lars; Qian, Cheng; Bryson, Susan; Jones, Marshall; Marshall, Christian; Scherer, Stephen; Vieland, Veronica; Bartlett, Christopher; Mangin, La Vonne; Goedken, Rhinda; Segre, Alberto; Pericak-Vance, Margaret; Cuccaro, Michael; Gilbert, John; Wright, Harry; Abramson, Ruth; Betancur, Catalina; Bourgeron, Thomas; Gillberg, Christopher; Leboyer, Marion; Buxbaum, Joseph; Davis, Kenneth; Hollander, Eric; Silverman, Jeremy; Hallmayer, Joachim; Lotspeich, Linda; Sutcliffe, James; Haines, Jonathan; Folstein, Susan; Piven, Joseph; Wassink, Thomas; Sheffield, Val; Geschwind, Daniel; Bucan, Maja; Brown, Ted; Cantor, Rita; Constantino, John; Gilliam, Conrad; Herbert, Martha; Lajonchere, Clara; Ledbetter, David; Lese-Martin, Christa; Miller, Janet; Nelson, Stan; Samango-Sprouse, Carol; Spence, Sarah; State, Matthew; Tanzi, Rudolph; Coon, Hilary; Dawson, Geraldine; Devlin, Bernie; Estes, Annette; Flodman, Pamela; Klei, Lambertus; Mcmahon, William; Minshew, Nancy; Munson, Jeff; Korvatska, Elena; Rodier, Patricia; Schellenberg, Gerard; Smith, Moyra; Spence, Anne; Stodgell, Chris; Tepper, Ping Guo; Wijsman, Ellen; Yu, Chang-En; Rogé, Bernadette; Mantoulan, Carine; Wittemeyer, Kerstin; Poustka, Annemarie; Felder, Bärbel; Klauck, Sabine; Schuster, Claudia; Poustka, Fritz; Bölte, Sven; Feineis-Matthews, Sabine; Herbrecht, Evelyn; Schmötzer, Gabi; Tsiantis, John; Papanikolaou, Katerina; Maestrini, Elena; Bacchelli, Elena; Blasi, Francesca; Carone, Simona; Toma, Claudio; Van Engeland, Herman; De Jonge, Maretha; Kemner, Chantal; Koop, Frederieke; Langemeijer, Marjolein; Hijmans, Channa; Staal, Wouter; Baird, Gillian; Bolton, Patrick; Rutter, Michael; Weisblatt, Emma; Green, Jonathan; Aldred, Catherine; Wilkinson, Julie-Anne; Pickles, Andrew; Le Couteur, Ann; Berney, Tom; Mcconachie, Helen; Bailey, Anthony; Francis, Kostas; Honeyman, Gemma; Hutchinson, Aislinn; Parr, Jeremy; Wallace, Simon; Monaco, Anthony; Barnby, Gabrielle; Kobayashi, Kazuhiro; Lamb, Janine; Sousa, Ines; Sykes, Nuala; Cook, Edwin; Guter, Stephen; Leventhal, Bennett; Salt, Jeff; Lord, Catherine; Corsello, Christina; Hus, Vanessa; Weeks, Daniel; Volkmar, Fred; Tauber, Maïté; Fombonne, Eric; Shih, Andy; Meyer, Kacie

    2007-01-01

    Autism spectrum disorders (ASD) are common, heritable neurodevelopmental conditions. The genetic architecture of ASD is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASD by using Affymetrix 10K single nucleotide polymorphism (SNP) arrays and 1168 families with ≥ 2 affected individuals to perform the largest linkage scan to date, while also analyzing copy number variation (CNV) in these families. Linkage and CNV analyses implicate chromosome 11p12-p13 and neurexins, respectively, amongst other candidate loci. Neurexins team with previously-implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for ASD. PMID:17322880

  15. Increased planned delivery contributes to declining rates of pregnancy hypertension in Australia: a population-based record linkage study.

    Roberts, Christine L; Algert, Charles S; Morris, Jonathan M; Ford, Jane B

    2015-10-05

    Since the 1990s, pregnancy hypertension rates have declined in some countries, but not all. Increasing rates of early planned delivery (before the due date) have been hypothesised as the reason for the decline. The aim of this study was to explore whether early planned delivery can partly explain the declining pregnancy hypertension rates in Australia. Population-based record linkage study utilising linked birth and hospital records. A cohort of 1,076,122 deliveries in New South Wales, Australia, 2001-2012. Pregnancy hypertension (including gestational hypertension, pre-eclampsia and eclampsia) was the main outcome; pre-eclampsia was a secondary outcome. From 2001 to 2012, pregnancy hypertension rates declined by 22%, from 9.9% to 7.7%, and pre-eclampsia by 27%, from 3.3% to 2.4% (trend prate was predicted to increase to 10.5%. Examination of annual gestational age distributions showed that pregnancy hypertension rates actually declined from 38 weeks gestation and were steepest from 41 weeks; at least 36% of the decrease could be attributed to planned deliveries. The risk factors for pregnancy hypertension were also risk factors for planned delivery. It appears that an unanticipated consequence of increasing early planned deliveries is a decline in the incidence of pregnancy hypertension. Women with risk factors for hypertension were relatively more likely to be selected for early delivery. 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. A general model for likelihood computations of genetic marker data accounting for linkage, linkage disequilibrium, and mutations.

    Kling, Daniel; Tillmar, Andreas; Egeland, Thore; Mostad, Petter

    2015-09-01

    Several applications necessitate an unbiased determination of relatedness, be it in linkage or association studies or in a forensic setting. An appropriate model to compute the joint probability of some genetic data for a set of persons given some hypothesis about the pedigree structure is then required. The increasing number of markers available through high-density SNP microarray typing and NGS technologies intensifies the demand, where using a large number of markers may lead to biased results due to strong dependencies between closely located loci, both within pedigrees (linkage) and in the population (allelic association or linkage disequilibrium (LD)). We present a new general model, based on a Markov chain for inheritance patterns and another Markov chain for founder allele patterns, the latter allowing us to account for LD. We also demonstrate a specific implementation for X chromosomal markers that allows for computation of likelihoods based on hypotheses of alleged relationships and genetic marker data. The algorithm can simultaneously account for linkage, LD, and mutations. We demonstrate its feasibility using simulated examples. The algorithm is implemented in the software FamLinkX, providing a user-friendly GUI for Windows systems (FamLinkX, as well as further usage instructions, is freely available at www.famlink.se ). Our software provides the necessary means to solve cases where no previous implementation exists. In addition, the software has the possibility to perform simulations in order to further study the impact of linkage and LD on computed likelihoods for an arbitrary set of markers.

  17. Two-locus linkage analysis in multiple sclerosis (MS)

    Tienari, P.J. (National Public Health Institute, Helsinki (Finland) Univ. of Helsinki (Finland)); Terwilliger, J.D.; Ott, J. (Columbia Univ., New York (United States)); Palo, J. (Univ. of Helsinki (Finland)); Peltonen, L. (National Public Health Institute, Helsinki (Finland))

    1994-01-15

    One of the major challenges in genetic linkage analyses is the study of complex diseases. The authors demonstrate here the use of two-locus linkage analysis in multiple sclerosis (MS), a multifactorial disease with a complex mode of inheritance. In a set of Finnish multiplex families, they have previously found evidence for linkage between MS susceptibility and two independent loci, the myelin basic protein gene (MBP) on chromosome 18 and the HLA complex on chromosome 6. This set of families provides a unique opportunity to perform linkage analysis conditional on two loci contributing to the disease. In the two-trait-locus/two-marker-locus analysis, the presence of another disease locus is parametrized and the analysis more appropriately treats information from the unaffected family member than single-disease-locus analysis. As exemplified here in MS, the two-locus analysis can be a powerful method for investigating susceptibility loci in complex traits, best suited for analysis of specific candidate genes, or for situations in which preliminary evidence for linkage already exists or is suggested. 41 refs., 6 tabs.

  18. A pantograph linkage

    Cole, G.V.

    1982-01-01

    A pantograph linkage is actuated by two linear actuators, pivotally connected together at the linkage. The displacement of the actuators is monitored by rectilinear potentiometers to provide feedback signals to a microprocessor which also receives input signals related to a required movement of a slave end of the linkage. In response to these signals, the microprocessor provides signals to control the displacement of the linear actuators to effect the required movement of the slave end. The movement of the slave end might be straightline in a substantially horizontal or vertical direction. (author)

  19. Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies.

    Couto, Ana Rita; Parreira, Bruna; Thomson, Russell; Soares, Marta; Power, Deborah M; Stankovich, Jim; Armas, Jácome Bruges; Brown, Matthew A

    2017-01-01

    Twelve families with exuberant and early-onset calcium pyrophosphate dehydrate chondrocalcinosis (CC) and diffuse idiopathic skeletal hyperostosis (DISH), hereafter designated DISH/CC, were identified in Terceira Island, the Azores, Portugal. Ninety-two (92) individuals from these families were selected for whole-genome-wide linkage analysis. An identity-by-descent (IBD) analysis was performed in 10 individuals from 5 of the investigated pedigrees. The chromosome area with the maximal logarithm of the odds score (1.32; P =0.007) was not identified using the IBD/identity-by-state (IBS) analysis; therefore, it was not investigated further. From the IBD/IBS analysis, two candidate genes, LEMD3 and RSPO4 , were identified and sequenced. Nine genetic variants were identified in the RSPO4 gene; one regulatory variant (rs146447064) was significantly more frequent in control individuals than in DISH/CC patients ( P =0.03). Four variants were identified in LEMD3 , and the rs201930700 variant was further investigated using segregation analysis. None of the genetic variants in RSPO4 or LEMD3 segregated within the studied families. Therefore, although a major genetic effect was shown to determine DISH/CC occurrence within these families, the specific genetic variants involved were not identified.

  20. The dopamine transporter protein gene (SLC6A3): Primary linage mapping and linkage studies in Tourette syndrome

    Gelernter, J.; Kruger, S.D.; Pakstis, A.J. [Yale Univ., New Haven, CT (United States)]|[West Haven Veterans Affairs Medical Center, CT (United States)] [and others

    1995-12-10

    The dopamine transporter, the molecule responsible for presynaptic reuptake of dopamine and a major site of action of psychostimulant drugs, including cocaine, is encoded by locus SLC6A3 (alias DAT1). The protein`s actions and DAT`s specific localization to dopaminergic neurons make it a candidate gene for several psychiatric illnesses. SLC6A3 has been mapped to distal chromosome 5p, using physical methods. Genetic linkage methods were used to place SLC6A3 in the genetic linkage map. Four extended pedigrees (one of which overlaps with CEPH) were typed. Linkage with Tourette syndrome (TS) was also examined. SLC6A3 showed close linkage with several markers previously mapped to distal chromosome 5p, including D5S11 (Z{sub max} = 16.0, {theta}{sub M} = {theta}{sub F} = 0.03, results from four families) and D5S678 (Z{sub max} = 7.84, {theta}{sub M} = {theta}{sub F} = 0, results from two families). Observed crossovers established that SLC6A3 is a distal marker close to D5S10 and D5S678, but these three distal markers could not be ordered. Linkage between TS and SLC6A3 could be excluded independently in two branches of a large kindred segregating TS; the lod score in a third family was also negative, but not significant. Cumulative results show a lod score of -6.2 at {theta} = 0 and of -3.9 at {theta} = 0.05 (dominant model, narrow disease definition). SLC6A3 thus maps to distal chromosome 5p by linkage analysis, in agreement with previous physical mapping data. A mutation at SLC6A3 is not causative for TS in the two large families that generated significant negative lod scores (if the parameters of our analyses were correct) and is unlikely to be causative in the family that generated a negative lod score that did not reach significance. These results do not exclude a role for the dopamine transporter in influencing risk for TS in combination with other loci. 23 refs., 1 fig., 2 tabs.

  1. Linkage to HIV care, postpartum depression, and HIV-related stigma in newly diagnosed pregnant women living with HIV in Kenya: a longitudinal observational study

    Turan, Bulent; Stringer, Kristi L; Onono, Maricianah; Bukusi, Elizabeth A; Weiser, Sheri D; Cohen, Craig R; Turan, Janet M

    2014-01-01

    Background While studies have suggested that depression and HIV-related stigma may impede access to care, a growing body of literature also suggests that access to HIV care itself may help to decrease internalized HIV-related stigma and symptoms of depression in the general population of persons living with HIV. However, this has not been investigated in postpartum women living with HIV. Furthermore, linkage to care itself may have additional impacts on postpartum depression beyond the effect...

  2. Genome-wide scan for serum ghrelin detects linkage on chromosome 1p36 in Hispanic children: results from the Viva La Familia study.

    Voruganti, V Saroja; Göring, Harald H H; Diego, Vincent P; Cai, Guowen; Mehta, Nitesh R; Haack, Karin; Cole, Shelley A; Butte, Nancy F; Comuzzie, Anthony G

    2007-10-01

    This study was conducted to investigate genetic influence on serum ghrelin and its relationship with adiposity-related phenotypes in Hispanic children (n=1030) from the Viva La Familia study (VFS). Anthropometric measurements and levels of serum ghrelin were estimated and genetic analyses conducted according to standard procedures. Mean age, body mass index (BMI), and serum ghrelin were 11+/-0.13 y, 25+/-0.24 kg/m2 and 38+/-0.5 ng/mL, respectively. Significant heritabilities (p<0.001) were obtained for BMI, weight, fat mass, percent fat, waist circumference, waist-to-height ratio, and ghrelin. Bivariate analyses of ghrelin with adiposity traits showed significant negative genetic correlations (p<0.0001) with weight, BMI, fat mass, percent fat, waist circumference, and waist-to-height ratio. A genome-wide scan for ghrelin detected significant linkage on chromosome 1p36.2 between STR markers D1S2697 and D1S199 (LOD=3.2). The same region on chromosome 1 was the site of linkage for insulin (LOD=3.3), insulinlike growth factor binding protein 1 (IGFBP1) (LOD=3.4), homeostatic model assessment method (HOMA) (LOD=2.9), and C-peptide (LOD=2.0). Several family-based studies have reported linkages for obesity-related phenotypes in the region of 1p36. These results indicate the importance of this region in relation to adiposity in children from the VFS.

  3. Public responses to the sharing and linkage of health data for research purposes: a systematic review and thematic synthesis of qualitative studies.

    Aitken, Mhairi; de St Jorre, Jenna; Pagliari, Claudia; Jepson, Ruth; Cunningham-Burley, Sarah

    2016-11-10

    The past 10 years have witnessed a significant growth in sharing of health data for secondary uses. Alongside this there has been growing interest in the public acceptability of data sharing and data linkage practices. Public acceptance is recognised as crucial for ensuring the legitimacy of current practices and systems of governance. Given the growing international interest in this area this systematic review and thematic synthesis represents a timely review of current evidence. It highlights the key factors influencing public responses as well as important areas for further research. This paper reports a systematic review and thematic synthesis of qualitative studies examining public attitudes towards the sharing or linkage of health data for research purposes. Twenty-five studies were included in the review. The included studies were conducted primarily in the UK and North America, with one study set in Japan, another in Sweden and one in multiple countries. The included studies were conducted between 1999 and 2013 (eight studies selected for inclusion did not report data collection dates). The qualitative methods represented in the studies included focus groups, interviews, deliberative events, dialogue workshops and asynchronous online interviews. Key themes identified across the corpus of studies related to the conditions necessary for public support/acceptability, areas of public concern and implications for future research. The results identify a growing body of evidence pointing towards widespread general-though conditional-support for data linkage and data sharing for research purposes. Whilst a variety of concerns were raised (e.g. relating to confidentiality, individuals' control over their data, uses and abuses of data and potential harms arising) in cases where participants perceived there to be actual or potential public benefits from research and had trust in the individuals or organisations conducting and/or overseeing data linkage/sharing, they

  4. Comorbidities treated in primary care in children with chronic fatigue syndrome / myalgic encephalomyelitis: A nationwide registry linkage study from Norway.

    Bakken, Inger J; Tveito, Kari; Aaberg, Kari M; Ghaderi, Sara; Gunnes, Nina; Trogstad, Lill; Magnus, Per; Stoltenberg, Camilla; Håberg, Siri E

    2016-09-02

    Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is a complex condition. Causal factors are not established, although underlying psychological or immunological susceptibility has been proposed. We studied primary care diagnoses for children with CFS/ME, with children with another hospital diagnosis (type 1 diabetes mellitus [T1DM]) and the general child population as comparison groups. All Norwegian children born 1992-2012 constituted the study sample. Children with CFS/ME (n = 1670) or T1DM (n = 4937) were identified in the Norwegian Patient Register (NPR) (2008-2014). Children without either diagnosis constituted the general child population comparison group (n = 1337508). We obtained information on primary care diagnoses from the Norwegian Directorate of Health. For each primary care diagnosis, the proportion and 99 % confidence interval (CI) within the three groups was calculated, adjusted for sex and age by direct standardization. Children with CFS/ME were more often registered with a primary care diagnosis of weakness/general tiredness (89.9 % [99 % CI 88.0 to 91.8 %]) than children in either comparison group (T1DM: 14.5 % [99 % CI: 13.1 to 16.0 %], general child population: 11.1 % [99 % CI: 11.0 to 11.2 %]). Also, depressive disorder and anxiety disorder were more common in the CFS/ME group, as were migraine, muscle pain, and infections. In the 2 year period prior to the diagnoses, infectious mononucleosis was registered for 11.1 % (99 % CI 9.1 to 13.1 %) of children with CFS/ME and for 0.5 % (99 % CI (0.2 to 0.8 %) of children with T1DM. Of children with CFS/ME, 74.6 % (1292/1670) were registered with a prior primary care diagnosis of weakness / general tiredness. The time span from the first primary care diagnosis of weakness / general tiredness to the specialist health care diagnosis of CFS/ME was 1 year or longer for 47.8 %. This large nationwide registry linkage study confirms that the clinical picture in CFS

  5. Disclosure of adverse events: a data linkage study reporting patient experiences among Australian adults aged ≥ 45 years.

    Walton, Merrilyn; Harrison, Reema; Smith-Merry, Jennifer; Kelly, Patrick; Manias, Elizabeth; Jorm, Christine; Iedema, Rick

    2018-04-26

    enhanced by training multidisciplinary teams in the process. What is known about the topic? While open disclosure is required in all cases of serious adverse events, patients' experiences are variable, and lack of, or poor quality disclosures are all too common. What does this paper add? This paper presents experiences reported by patients across New South Wales in a large cross-sectional survey. Unlike previous studies of open disclosure, recently hospitalised patients were identified and invited using data linkage with medical records. Findings suggest that most patients receive informal disclosures rather than a process that aligns with the current policy guidance. What are the implications for practitioners? Experiences of open disclosure may be enhanced by informing patients of their right to full disclosure in advance of or upon admission to hospital, and recognition of and support for informal or bedside disclosure for appropriate types of incidents.

  6. Messaging Circumstances and Economic Pressures as Influences on Linkage to Medical Male Circumcision following Community-Based HIV Testing for Men in Rural Southwest Uganda: A Qualitative Study

    Hannah N. Gilbert

    2018-01-01

    Full Text Available Voluntary medical male circumcision (MMC reduces risk of HIV infection, but uptake remains suboptimal among certain age groups and locations in sub-Saharan Africa. We analysed qualitative data as part of the Linkages Study, a randomized controlled trial to evaluate community-based HIV testing and follow-up as interventions promoting linkage to HIV treatment and prevention in Uganda and South Africa. Fifty-two HIV-negative uncircumcised men participated in the qualitative study. They participated in semistructured individual interviews exploring (a home HTC experience; (b responses to test results; (c efforts to access circumcision services; (d outcomes of efforts; (e experiences of follow-up support; and (f local HIV education and support. Interviews were audio-recorded, translated, transcribed, and summarized into “linkage summaries.” Summaries were analysed inductively to identify the following three thematic experiences shaping men’s circumcision choices: (1 intense relief upon receipt of an unanticipated seronegative diagnosis, (2 the role of peer support in overcoming fear, and (3 anticipation of missed economic productivity. Increased attention to the timing of demand creation activities, to who delivers information about the HIV prevention benefits of MMC, and to the importance of missed income during recovery as a barrier to uptake promises to strengthen and sharpen future MMC demand creation strategies.

  7. A randomised controlled trial to compare opt-in and opt-out parental consent for childhood vaccine safety surveillance using data linkage: study protocol

    Duszynski Katherine M

    2011-01-01

    Full Text Available Abstract Background The Vaccine Assessment using Linked Data (VALiD trial compared opt-in and opt-out parental consent for a population-based childhood vaccine safety surveillance program using data linkage. A subsequent telephone interview of all households enrolled in the trial elicited parental intent regarding the return or non-return of reply forms for opt-in and opt-out consent. This paper describes the rationale for the trial and provides an overview of the design and methods. Methods/Design Single-centre, single-blind, randomised controlled trial (RCT stratified by firstborn status. Mothers who gave birth at one tertiary South Australian hospital were randomised at six weeks post-partum to receive an opt-in or opt-out reply form, along with information explaining data linkage. The primary outcome at 10 weeks post-partum was parental participation in each arm, as indicated by the respective return or non-return of a reply form (or via telephone or email response. A subsequent telephone interview at 10 weeks post-partum elicited parental intent regarding the return or non-return of the reply form, and attitudes and knowledge about data linkage, vaccine safety, consent preferences and vaccination practices. Enrolment began in July 2009 and 1,129 households were recruited in a three-month period. Analysis has not yet been undertaken. The participation rate and selection bias for each method of consent will be compared when the data are analysed. Discussion The VALiD RCT represents the first trial of opt-in versus opt-out consent for a data linkage study that assesses consent preferences and intent compared with actual opting in or opting out behaviour, and socioeconomic factors. The limitations to generalisability are discussed. Trial registration Australian New Zealand Clinical Trials Registry ACTRN12610000332022

  8. A randomised controlled trial to compare opt-in and opt-out parental consent for childhood vaccine safety surveillance using data linkage: study protocol.

    Berry, Jesia G; Ryan, Philip; Braunack-Mayer, Annette J; Duszynski, Katherine M; Xafis, Vicki; Gold, Michael S

    2011-01-04

    The Vaccine Assessment using Linked Data (VALiD) trial compared opt-in and opt-out parental consent for a population-based childhood vaccine safety surveillance program using data linkage. A subsequent telephone interview of all households enrolled in the trial elicited parental intent regarding the return or non-return of reply forms for opt-in and opt-out consent. This paper describes the rationale for the trial and provides an overview of the design and methods. Single-centre, single-blind, randomised controlled trial (RCT) stratified by firstborn status. Mothers who gave birth at one tertiary South Australian hospital were randomised at six weeks post-partum to receive an opt-in or opt-out reply form, along with information explaining data linkage. The primary outcome at 10 weeks post-partum was parental participation in each arm, as indicated by the respective return or non-return of a reply form (or via telephone or email response). A subsequent telephone interview at 10 weeks post-partum elicited parental intent regarding the return or non-return of the reply form, and attitudes and knowledge about data linkage, vaccine safety, consent preferences and vaccination practices. Enrolment began in July 2009 and 1,129 households were recruited in a three-month period. Analysis has not yet been undertaken. The participation rate and selection bias for each method of consent will be compared when the data are analysed. The VALiD RCT represents the first trial of opt-in versus opt-out consent for a data linkage study that assesses consent preferences and intent compared with actual opting in or opting out behaviour, and socioeconomic factors. The limitations to generalisability are discussed. Australian New Zealand Clinical Trials Registry ACTRN12610000332022.

  9. Impact of high-performance work systems on individual- and branch-level performance: test of a multilevel model of intermediate linkages.

    Aryee, Samuel; Walumbwa, Fred O; Seidu, Emmanuel Y M; Otaye, Lilian E

    2012-03-01

    We proposed and tested a multilevel model, underpinned by empowerment theory, that examines the processes linking high-performance work systems (HPWS) and performance outcomes at the individual and organizational levels of analyses. Data were obtained from 37 branches of 2 banking institutions in Ghana. Results of hierarchical regression analysis revealed that branch-level HPWS relates to empowerment climate. Additionally, results of hierarchical linear modeling that examined the hypothesized cross-level relationships revealed 3 salient findings. First, experienced HPWS and empowerment climate partially mediate the influence of branch-level HPWS on psychological empowerment. Second, psychological empowerment partially mediates the influence of empowerment climate and experienced HPWS on service performance. Third, service orientation moderates the psychological empowerment-service performance relationship such that the relationship is stronger for those high rather than low in service orientation. Last, ordinary least squares regression results revealed that branch-level HPWS influences branch-level market performance through cross-level and individual-level influences on service performance that emerges at the branch level as aggregated service performance.

  10. Linkage studies on 13 biochemical loci and 2 coat color loci in a [(BN x TM) x TM] backcross progeny of the rat (Rattus norvegicus).

    Yamada, J; Hamada, S; Bender, K; Adams, M

    1986-10-01

    In a [(BN X TM) X TM] backcross progeny of rats, nine significant linkage associations were found among 105 pairwise combinations of 15 loci. After comparing this with other published data and data of personal communications, we considered that the d gene we tentatively designated may be identical to the gene for pink-eyed dilution (p), and that the associations of Gc-Hbb, RT1-h, and Gc-Fh were due to chance rather than real linkage. The linkages obtained in this study, therefore, were Hbb-p (26.5 +/- 5.5) in LG I, Mup-1-Acon-1 (12.5 +/- 4.1) in LG II, Hao-1-Svp-1 (23.8 +/- 6.6) in LG IV, Es-1-Es-3 (17.2 +/- 4.7) in LG V, h-Gc (10.9 +/- 3.3) in LG VI, and Fh-Pep-3 (32.3 +/- 5.9) in LG X.

  11. Effects of maltreatment and parental schizophrenia spectrum disorders on early childhood social-emotional functioning: a population record linkage study.

    Matheson, S L; Kariuki, M; Green, M J; Dean, K; Harris, F; Tzoumakis, S; Tarren-Sweeney, M; Brinkman, S; Chilvers, M; Sprague, T; Carr, V J; Laurens, K R

    2017-12-01

    Childhood maltreatment and a family history of a schizophrenia spectrum disorder (SSD) are each associated with social-emotional dysfunction in childhood. Both are also strong risk factors for adult SSDs, and social-emotional dysfunction in childhood may be an antecedent of these disorders. We used data from a large Australian population cohort to determine the independent and moderating effects of maltreatment and parental SSDs on early childhood social-emotional functioning. The New South Wales Child Development Study combines intergenerational multi-agency data using record linkage methods. Multiple measures of social-emotional functioning (social competency, prosocial/helping behaviour, anxious/fearful behaviour; aggressive behaviour, and hyperactivity/inattention) on 69 116 kindergarten children (age ~5 years) were linked with government records of child maltreatment and parental presentations to health services for SSD. Multivariable analyses investigated the association between maltreatment and social-emotional functioning, adjusting for demographic variables and parental SSD history, in the population sample and in sub-cohorts exposed and not exposed to parental SSD history. We also examined the association of parental SSD history and social-emotional functioning, adjusting for demographic variables and maltreatment. Medium-sized associations were identified between maltreatment and poor social competency, aggressive behaviour and hyperactivity/inattention; small associations were revealed between maltreatment and poor prosocial/helping and anxious/fearful behaviours. These associations did not differ greatly when adjusted for parental SSD, and were greater in magnitude among children with no history of parental SSD. Small associations between parental SSD and poor social-emotional functioning remained after adjusting for demographic variables and maltreatment. Childhood maltreatment and history of parental SSD are associated independently with poor early

  12. New generation pharmacogenomic tools: a SNP linkage disequilibrium Map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies.

    De La Vega, Francisco M; Dailey, David; Ziegle, Janet; Williams, Julie; Madden, Dawn; Gilbert, Dennis A

    2002-06-01

    Since public and private efforts announced the first draft of the human genome last year, researchers have reported great numbers of single nucleotide polymorphisms (SNPs). We believe that the availability of well-mapped, quality SNP markers constitutes the gateway to a revolution in genetics and personalized medicine that will lead to better diagnosis and treatment of common complex disorders. A new generation of tools and public SNP resources for pharmacogenomic and genetic studies--specifically for candidate-gene, candidate-region, and whole-genome association studies--will form part of the new scientific landscape. This will only be possible through the greater accessibility of SNP resources and superior high-throughput instrumentation-assay systems that enable affordable, highly productive large-scale genetic studies. We are contributing to this effort by developing a high-quality linkage disequilibrium SNP marker map and an accompanying set of ready-to-use, validated SNP assays across every gene in the human genome. This effort incorporates both the public sequence and SNP data sources, and Celera Genomics' human genome assembly and enormous resource ofphysically mapped SNPs (approximately 4,000,000 unique records). This article discusses our approach and methodology for designing the map, choosing quality SNPs, designing and validating these assays, and obtaining population frequency ofthe polymorphisms. We also discuss an advanced, high-performance SNP assay chemisty--a new generation of the TaqMan probe-based, 5' nuclease assay-and high-throughput instrumentation-software system for large-scale genotyping. We provide the new SNP map and validation information, validated SNP assays and reagents, and instrumentation systems as a novel resource for genetic discoveries.

  13. Poverty and local linkages in the tourism value chain: a study of upland economies in China and India

    Dev Nathan; Govind Kelkar; Yang Fuquan; Yu Yin

    2013-01-01

    Abstract The paper deals with the role of tourism in reducing poverty in upland economies. Taking cases from China and India, it explores the local segments of the tourism value chain, or the local linkages of tourism. In assessing the impact on poverty it looks at both the local share of tourist expenditure and the size of the tourism sector. Local benefits are looked at from the points of view of both women and men as service providers. The paper brings out the important role of tourism as ...

  14. Thermally actuated linkage arrangement

    Anderson, P.M.

    1981-01-01

    A reusable thermally actuated linkage arrangement includes a first link member having a longitudinal bore therein adapted to receive at least a portion of a second link member therein, the first and second members being sized to effect an interference fit preventing relative movement there-between at a temperature below a predetermined temperature. The link members have different coefficients of thermal expansion so that when the linkage is selectively heated by heating element to a temperature above the predetermined temperature, relative longitudinal and/or rotational movement between the first and second link members is enabled. Two embodiments of a thermally activated linkage are disclosed which find particular application in actuators for a grapple head positioning arm in a nuclear reactor fuel handling mechanism to facilitate back-up safety retraction of the grapple head independently from the primary fuel handling mechanism drive system. (author)

  15. Operational synergy in the US electric utility industry under an influence of deregulation policy: A linkage to financial performance and corporate value

    Sueyoshi, Toshiyuki; Goto, Mika

    2011-01-01

    have examined a synergy effect between electricity and gas services in the US electric utility industry. They have compared electricity-specialized firms with diversified utility firms in their financial performance and corporate value. A problem of their study is that it has not empirically measured the operational performance of the electric utility firms. As an extension of the preceding study, this research investigates the operational performance of 104 US electric utility firms (1990-2004) by fully utilizing DEA (Data Envelopment Analysis). This study finds the three new policy implications. First, the synergy effect has not existed in the operational performance of diversified utility firms before and after the deregulation on the US electricity markets. Thus, core business concentration is more effective for electric utility firms than corporate diversification to enhance their operational performance under the current US deregulation policy. Second, the operational performance has had an increasing trend until 1996 and a decreasing trend after 1996. Thus, the US deregulation policy has been influential on their operational performance. Third, the enhancement in operational performance of electric utility firms has improved their financial performance. The improvement in financial performance has increased their corporate value. Thus, this study finds the business causality among operational performance, financial performance and corporate value in the US electric utility industry. - Research Highlights: →The synergy effect has not existed in the operational performance of diversified utility firms before and after the deregulation on the US electricity markets. →Core business concentration is more effective for electric utility firms than corporate diversification to enhance their operational performance under the current US deregulation policy. →The operational performance has had an increasing trend until 1996 and a decreasing trend after 1996.

  16. Linkage of a Population-Based Cohort With Primary Data Collection to Medicare Claims: The Reasons for Geographic and Racial Differences in Stroke Study.

    Xie, Fenglong; Colantonio, Lisandro D; Curtis, Jeffrey R; Safford, Monika M; Levitan, Emily B; Howard, George; Muntner, Paul

    2016-10-01

    We described the linkage of primary data with administrative claims using the Reasons for Geographic and Racial Differences in Stroke (REGARDS) study and Medicare. REGARDS study data were linked with Medicare claims by use of Social Security numbers. We compared REGARDS participants by Medicare linkage status, having fee-for-service (FFS) coverage or not, and with a 5% sample of Medicare beneficiaries who had FFS coverage in 2005, overall, by age (45-64 and ≥65 years), and by race. Among REGARDS participants who were ≥65 years of age, 80% had data linked to Medicare on their study-visit date (64% with FFS coverage). No differences except race and sex were present between REGARDS participants without Medicare linkage and those with data linked to Medicare with and without FFS coverage. After the age-sex-race adjustment, comorbid conditions and health-care utilization were similar for those with FFS coverage in the REGARDS study and the 5% sample of Medicare beneficiaries. Among REGARDS participants aged 45-64 years, 11% had FFS coverage on their study-visit date. In this age group, differences were present between participants with and without FFS coverage and the Medicare 5% sample with FFS coverage. In conclusion, REGARDS participants aged ≥65 years with FFS coverage are representative of the study cohort and the US population aged ≥65 years with FFS coverage. © The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  17. Genome scan for linkage to asthma using a linkage disequilibrium-lod score test.

    Jiang, Y; Slager, S L; Huang, J

    2001-01-01

    We report a genome-wide linkage study of asthma on the German and Collaborative Study on the Genetics of Asthma (CSGA) data. Using a combined linkage and linkage disequilibrium test and the nonparametric linkage score, we identified 13 markers from the German data, 1 marker from the African American (CSGA) data, and 7 markers from the Caucasian (CSGA) data in which the p-values ranged between 0.0001 and 0.0100. From our analysis and taking into account previous published linkage studies of asthma, we suggest that three regions in chromosome 5 (around D5S418, D5S644, and D5S422), one region in chromosome 6 (around three neighboring markers D6S1281, D6S291, and D6S1019), one region in chromosome 11 (around D11S2362), and two regions in chromosome 12 (around D12S351 and D12S324) especially merit further investigation.

  18. Barriers to HIV testing, linkage to care, and treatment adherence: a cross-sectional study from a large urban center of Brazil.

    MacCarthy, Sarah; Hoffmann, Michael; Nunn, Amy; Silva, Luís Augusto Vasconcelos da; Dourado, Ines

    2016-12-01

    Early, continued engagement with the HIV treatment continuum can help achieve viral suppression, though few studies have explored how risk factors for delays differ across the continuum. The objective of this study was to identify predictors of delayed diagnosis, delayed linkage to care, and nonadherence to treatment in the city of Salvador, Bahia, Brazil. Data were collected during 2010 in a cross-sectional study with a sample (n = 1 970) of HIV-infected individuals enrolled in care. Multiple logistic regression analyses identified sociodemographic variables, behaviors, and measures of health service quality that were associated with delayed diagnosis, delayed linkage to care, and treatment nonadherence. For delayed diagnosis, male gender (adjusted odds ratio (AOR), 3.02; 95% confidence interval (CI), 2.0-4.6); age 45 years and older (AOR, 1.67; 95% CI, 1.1-2.5); and provider-initiated testing (AOR, 3.00; 95% CI, 2.1-4.4) increased odds, while drug use (AOR, 0.29; 95% CI, 0.2-0.5) and receiving results in a private space (AOR, 0.37; 95% CI, 0.2-0.8) decreased odds. For delayed linkage to care, unemployment (AOR, 1.42; 95% CI, 1.07-1.9) and difficulty understanding or speaking with a health care worker (AOR, 1.61; 95% CI, 1.2-2.1) increased odds, while posttest counseling (AOR, 0.49; 95% CI, 0.3-0.7) decreased odds. For nonadherence, experiencing verbal or physical discrimination related to HIV (AOR, 1.94; 95% CI, 1.3-3.0) and feeling mistreated or not properly attended to at HIV care (AOR, 1.60; 95% CI, 1.0-2.5) increased odds, while posttest counseling (AOR, 0.34; 95% CI, 0.2-0.6) decreased odds. More attention is needed on how policies, programs, and research can provide tailored support across the treatment continuum.

  19. Clause linkage in Ket

    Nefedov, Andrey

    2015-01-01

    This work provides a typologically oriented description of clause linkage strategies in Ket, a highly endangered language spoken in Central Siberia. It is now the only surviving member of the Yeniseian language family with the last remaining speakers residing in the north of Russia’s Krasnoyarsk

  20. Analysis of four families with the Stickler syndrome by linkage studies. Identification of a new premature stop codon in the COL2A1 gene in a family

    Bonaventure, J.; Lasselin, C. [Hopital Necker, Paris (France); Toutain, A. [CHU Bretonneau, Tours (France)] [and others

    1994-09-01

    The Stickler syndrome is an arthro-ophthalmopathy which associates progressive myopia with vitreal degeneration and retinal detachment. Cleft palate, cranio-facial abnormalities, deafness and osteoarthritis are often associated symptoms. Genetic heterogeneity of this autosomal dominant disease was consistent with its large clinical variability. Linkage studies have provided evidence for cosegregation of the disease with COL2A1, the gene coding for type II collagen, in about 50% of the families. Four additional families are reported here. Linkage analyses by using a VNTR located in the 3{prime} region of the gene were achieved. In three families, positive lod scores were obtained with a cumulative maximal value of 3.5 at a recombination fraction of 0. In one of these families, single strand conformation analysis of 25 exons disclosed a new mutation in exon 42. Codon for glutamic acid at position a1-803 was converted into a stop codon. The mutation was detected in DNA samples from all the affected members of the family but not in the unaffected. This result confirms that most of the Stickler syndromes linked to COL2A1 are due to premature stop codons. In a second family, an abnormal SSCP pattern of exon 34 was detected in all the affected individuals. The mutation is likely to correspond to a splicing defect in the acceptor site of intron 33. In one family the disease did not segregate with the COL2A1 locus. Further linkage studies with intragenic dimorphic sites in the COL10A1 gene and highly polymorphic markers close to the COL9A1 locus indicated that this disorder did not result from defects in these two genes.

  1. Linkage to HIV care, postpartum depression, and HIV-related stigma in newly diagnosed pregnant women living with HIV in Kenya: a longitudinal observational study.

    Turan, Bulent; Stringer, Kristi L; Onono, Maricianah; Bukusi, Elizabeth A; Weiser, Sheri D; Cohen, Craig R; Turan, Janet M

    2014-12-03

    While studies have suggested that depression and HIV-related stigma may impede access to care, a growing body of literature also suggests that access to HIV care itself may help to decrease internalized HIV-related stigma and symptoms of depression in the general population of persons living with HIV. However, this has not been investigated in postpartum women living with HIV. Furthermore, linkage to care itself may have additional impacts on postpartum depression beyond the effects of antiretroviral therapy. We examined associations between linkage to HIV care, postpartum depression, and internalized stigma in a population with a high risk of depression: newly diagnosed HIV-positive pregnant women. In this prospective observational study, data were obtained from 135 HIV-positive women from eight antenatal clinics in the rural Nyanza Province of Kenya at their first antenatal visit (prior to testing HIV-positive for the first time) and subsequently at 6 weeks after giving birth. At 6 weeks postpartum, women who had not linked to HIV care after testing positive at their first antenatal visit had higher levels of depression and internalized stigma, compared to women who had linked to care. Internalized stigma mediated the effect of linkage to care on depression. Furthermore, participants who had both linked to HIV care and initiated antiretroviral therapy reported the lowest levels of depressive symptoms. These results provide further support for current efforts to ensure that women who are newly diagnosed with HIV during pregnancy become linked to HIV care as early as possible, with important benefits for both physical and mental health.

  2. Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study.

    Samuels, Jack; Shugart, Yin Yao; Wang, Ying; Grados, Marco A; Bienvenu, O Joseph; Pinto, Anthony; Rauch, Scott L; Greenberg, Benjamin D; Knowles, James A; Fyer, Abby J; Piacentini, John; Pauls, David L; Cullen, Bernadette; Rasmussen, Steven A; Stewart, S Evelyn; Geller, Dan A; Maher, Brion S; Goes, Fernando S; Murphy, Dennis L; McCracken, James T; Riddle, Mark A; Nestadt, Gerald

    2014-06-01

    Some individuals with obsessive-compulsive disorder (OCD) have autistic-like traits, including deficits in social and communication behaviors (pragmatics). The objective of this study was to determine if pragmatic impairment aggregates in OCD families and discriminates a clinically and genetically distinct subtype of OCD. We conducted clinical examinations on, and collected DNA samples from, 706 individuals with OCD in 221 multiply affected OCD families. Using the Pragmatic Rating Scale (PRS), we compared the prevalence of pragmatic impairment in OCD-affected relatives of probands with and without pragmatic impairment. We also compared clinical features of OCD-affected individuals in families having at least one, versus no, individual with pragmatic impairment, and assessed for linkage to OCD in the two groups of families. The odds of pragmatic impairment were substantially greater in OCD-affected relatives of probands with pragmatic impairment. Individuals in high-PRS families had greater odds of separation anxiety disorder and social phobia, and a greater number of schizotypal personality traits. In high-PRS families, there was suggestive linkage to OCD on chromosome 12 at marker D12S1064 and on chromosome X at marker DXS7132 whereas, in low-PRS families, there was suggestive linkage to chromosome 3 at marker D3S2398. Pragmatic impairment aggregates in OCD families. Separation anxiety disorder, social phobia, and schizotypal personality traits are part of a clinical spectrum associated with pragmatic impairment in these families. Specific regions of chromosomes 12 and X are linked to OCD in high-PRS families. Thus, pragmatic impairment may distinguish a clinically and genetically homogeneous subtype of OCD. © 2014 Wiley Periodicals, Inc.

  3. A combination intervention strategy to improve linkage to and retention in HIV care following diagnosis in Mozambique: A cluster-randomized study.

    Batya Elul

    2017-11-01

    showed promise for making much needed gains in the HIV care continuum in our study, particularly in the critical first step of timely linkage to care following diagnosis.ClinicalTrials.gov NCT01930084.

  4. Data Linkage from Clinical to Study Databases via an R Data Warehouse User Interface. Experiences from a Large Clinical Follow-up Study.

    Kaspar, Mathias; Ertl, Maximilian; Fette, Georg; Dietrich, Georg; Toepfer, Martin; Angermann, Christiane; Störk, Stefan; Puppe, Frank

    2016-08-05

    Data that needs to be documented for clinical studies has often been acquired and documented in clinical routine. Usually this data is manually transferred to Case Report Forms (CRF) and/or directly into an electronic data capture (EDC) system. To enhance the documentation process of a large clinical follow-up study targeting patients admitted for acutely decompensated heart failure by accessing the data created during routine and study visits from a hospital information system (HIS) and by transferring it via a data warehouse (DWH) into the study's EDC system. This project is based on the clinical DWH developed at the University of Würzburg. The DWH was extended by several new data domains including data created by the study team itself. An R user interface was developed for the DWH that allows to access its source data in all its detail, to transform data as comprehensively as possible by R into study-specific variables and to support the creation of data and catalog tables. A data flow was established that starts with labeling patients as study patients within the HIS and proceeds with updating the DWH with this label and further data domains at a daily rate. Several study-specific variables were defined using the implemented R user interface of the DWH. This system was then used to export these variables as data tables ready for import into our EDC system. The data tables were then used to initialize the first 296 patients within the EDC system by pseudonym, visit and data values. Afterwards, these records were filled with clinical data on heart failure, vital parameters and time spent on selected wards. This solution focuses on the comprehensive access and transformation of data for a DWH-EDC system linkage. Using this system in a large clinical study has demonstrated the feasibility of this approach for a study with a complex visit schedule.

  5. Validating self-report of diabetes use by participants in the 45 and up study: a record linkage study

    2013-01-01

    Background Prevalence studies usually depend on self-report of disease status in survey data or administrative data collections and may over- or under-estimate disease prevalence. The establishment of a linked data collection provided an opportunity to explore the accuracy and completeness of capture of information about diabetes in survey and administrative data collections. Methods Baseline questionnaire data at recruitment to the 45 and Up Study was obtained for 266,848 adults aged 45 years and over sampled from New South Wales, Australia in 2006–2009, and linked to administrative data about hospitalisation from the Admitted Patient Data Collection (APDC) for 2000–2009, claims for medical services (MBS) and pharmaceuticals (PBS) from Medicare Australia data for 2004–2009. Diabetes status was determined from response to a question ‘Has a doctor EVER told you that you have diabetes’ (n = 23,981) and augmented by examination of free text fields about diagnosis (n = 119) or use of insulin (n = 58). These data were used to identify the sub-group with type 1 diabetes. We explored the agreement between self-report of diabetes, identification of diabetes diagnostic codes in APDC data, claims for glycosylated haemoglobin (HbA1c) in MBS data, and claims for dispensed medication (oral hyperglycaemic agents and insulin) in PBS data. Results Most participants with diabetes were identified in APDC data if admitted to hospital (79.3%), in MBS data with at least one claim for HbA1c testing (84.7%; 73.4% if 2 tests claimed) or in PBS data through claim for diabetes medication (71.4%). Using these alternate data collections as an imperfect ‘gold standard’ we calculated sensitivities of 83.7% for APDC, 63.9% (80.5% for two tests) for MBS, and 96.6% for PBS data and specificities of 97.7%, 98.4% and 97.1% respectively. The lower sensitivity for HbA1c may reflect the use of this test to screen for diabetes suggesting that it is less useful in identifying

  6. High-cost users of hospital beds in Western Australia: a population-based record linkage study.

    Calver, Janine; Brameld, Kate J; Preen, David B; Alexia, Stoney J; Boldy, Duncan P; McCaul, Kieran A

    2006-04-17

    To describe how high-cost users of inpatient care in Western Australia differ from other users in age, health problems and resource use. Secondary analysis of hospital data and linked mortality data from the WA Data Linkage System for 2002, with cost data from the National Hospital Cost Data Collection (2001-02 financial year). Comparison of high-cost users and other users of inpatient care in terms of age, health profile (major diagnostic category) and resource use (annualised costs, separations and bed days). Older high-cost users (> or = 65 years) were not more expensive to treat than younger high-cost users (at the patient level), but were costlier as a group overall because of their disproportionate representation (n = 8466; 55.9%). Chronic stable and unstable conditions were a key feature of high-cost users, and included end stage renal disease, angina, depression and secondary malignant neoplasms. High-cost users accounted for 38% of both inpatient costs and inpatient days, and 26% of inpatient separations. Ageing of the population is associated with an increase in the proportion of high-cost users of inpatient care. High costs appear to be needs-driven. Constraining high-cost inpatient use requires more focus on preventing the onset and progression of chronic disease, and reducing surgical complications and injuries in vulnerable groups.

  7. Cardiovascular disease treatment among patients with severe mental illness: a data linkage study between primary and secondary care.

    Woodhead, Charlotte; Ashworth, Mark; Broadbent, Matthew; Callard, Felicity; Hotopf, Matthew; Schofield, Peter; Soncul, Murat; Stewart, Robert J; Henderson, Max J

    2016-06-01

    Suboptimal treatment of cardiovascular diseases (CVD) among patients with severe mental illness (SMI) may contribute to physical health disparities. To identify SMI characteristics associated with meeting CVD treatment and prevention guidelines. Population-based electronic health record database linkage between primary care and the sole provider of secondary mental health care services in south east London, UK. Cardiovascular disease prevalence, risk factor recording, and Quality and Outcomes Framework (QOF) clinical target achievement were compared among 4056 primary care patients with SMI whose records were linked to secondary healthcare records and 270 669 patients without SMI who were not known to secondary care psychiatric services, using multivariate logistic regression modelling. Data available from secondary care records were then used to identify SMI characteristics associated with QOF clinical target achievement. Patients with SMI and with coronary heart disease and heart failure experienced reduced prescribing of beta blockers and angiotensin-converting enzyme inhibitor/angiotensin receptor blockers (ACEI/ARB). A diagnosis of schizophrenia, being identified with any indicator of risk or illness severity, and being prescribed with depot injectable antipsychotic medication was associated with the lowest likelihood of prescribing. Linking primary and secondary care data allows the identification of patients with SMI most at risk of undertreatment for physical health problems. © British Journal of General Practice 2016.

  8. Linkage to HIV care after home-based HIV counselling and testing in sub-Saharan Africa: a systematic review.

    Ruzagira, Eugene; Baisley, Kathy; Kamali, Anatoli; Biraro, Samuel; Grosskurth, Heiner

    2017-07-01

    Home-based HIV counselling and testing (HBHCT) has the potential to increase HIV testing uptake in sub-Saharan Africa (SSA), but data on linkage to HIV care after HBHCT are scarce. We conducted a systematic review of linkage to care after HBHCT in SSA. Five databases were searched for studies published between 1st January 2000 and 19th August 2016 that reported on linkage to care among adults newly identified with HIV infection through HBHCT. Eligible studies were reviewed, assessed for risk of bias and findings summarised using the PRISMA guidelines. A total of 14 studies from six countries met the eligibility criteria; nine used specific strategies (point-of-care CD4 count testing, follow-up counselling, provision of transport funds to clinic and counsellor facilitation of HIV clinic visit) in addition to routine referral to facilitate linkage to care. Time intervals for ascertaining linkage ranged from 1 week to 12 months post-HBHCT. Linkage ranged from 8.2% [95% confidence interval (CI), 6.8-9.8%] to 99.1% (95% CI, 96.9-99.9%). Linkage was generally lower (80%) if additional strategies were used. Only one study assessed linkage by means of a randomised trial. Five studies had data on cotrimoxazole (CTX) prophylaxis and 12 on ART eligibility and initiation. CTX uptake among those eligible ranged from 0% to 100%. The proportion of persons eligible for ART ranged from 16.5% (95% CI, 12.1-21.8) to 77.8% (95% CI, 40.0-97.2). ART initiation among those eligible ranged from 14.3% (95% CI, 0.36-57.9%) to 94.9% (95% CI, 91.3-97.4%). Additional linkage strategies, whilst seeming to increase linkage, were not associated with higher uptake of CTX and/or ART. Most of the studies were susceptible to risk of outcome ascertainment bias. A pooled analysis was not performed because of heterogeneity across studies with regard to design, setting and the key variable definitions. Only few studies from SSA investigated linkage to care among adults newly diagnosed with HIV through

  9. Effects of Worldwide Population Subdivision on ALDH2 Linkage Disequilibrium

    Peterson, Raymond J.; Goldman, David; Long, Jeffrey C.

    1999-01-01

    The effect of human population subdivision on linkage disequilibrium has previously been studied for unlinked genes. However, no study has focused on closely linked polymorphisms or formally partitioned linkage disequilibrium within and among worldwide populations. With an emphasis on population subdivision, the goal of this paper is to investigate the causes of linkage disequilibrium in ALDH2, the gene that encodes aldehyde dehydrogenase 2. Haplotypes for 756 people from 17 populations acros...

  10. Association Between Prepartum Maternal Iron Deficiency and Offspring Risk of Schizophrenia: Population-Based Cohort Study With Linkage of Danish National Registers

    Sørensen, Holger J; Nielsen, Philip R; Pedersen, Carsten B

    2010-01-01

    Recent findings suggest that maternal iron deficiency may increase the risk of schizophrenia-spectrum disorder in offspring. We initiated this study to determine whether maternal prepartum anemia influences offspring risk of schizophrenia. We conducted a population-based study with individual...... a 1.60-fold (95% confidence interval = 1.16-2.15) increased risk of schizophrenia. Although the underlying mechanisms are unknown and independent replication is needed, our findings suggest that maternal iron deficiency increases offspring risk of schizophrenia....... record linkage of the Danish Civil Registration System, the Danish Psychiatric Central Register, and the Danish National Hospital Register. In a cohort of 1 115 752 Danish singleton births from 1978 to 1998, cohort members were considered as having a maternal history of anemia if the mother had received...

  11. Association Between Prepartum Maternal Iron Deficiency and Offspring Risk of Schizophrenia: Population-Based Cohort Study With Linkage of Danish National Registers

    Sørensen, Holger J; Nielsen, Philip R; Pedersen, Carsten B

    2011-01-01

    Recent findings suggest that maternal iron deficiency may increase the risk of schizophrenia-spectrum disorder in offspring. We initiated this study to determine whether maternal prepartum anemia influences offspring risk of schizophrenia. We conducted a population-based study with individual...... a 1.60-fold (95% confidence interval = 1.16-2.15) increased risk of schizophrenia. Although the underlying mechanisms are unknown and independent replication is needed, our findings suggest that maternal iron deficiency increases offspring risk of schizophrenia....... record linkage of the Danish Civil Registration System, the Danish Psychiatric Central Register, and the Danish National Hospital Register. In a cohort of 1 115 752 Danish singleton births from 1978 to 1998, cohort members were considered as having a maternal history of anemia if the mother had received...

  12. Genome-wide linkage analysis for human longevity

    Beekman, Marian; Blanché, Hélène; Perola, Markus

    2013-01-01

    Clear evidence exists for heritability of human longevity, and much interest is focused on identifying genes associated with longer lives. To identify such longevity alleles, we performed the largest genome-wide linkage scan thus far reported. Linkage analyses included 2118 nonagenarian Caucasian...

  13. Case Study on Logistics Performance

    Shahryar Sorooshian

    2013-05-01

    Full Text Available The paper presents research carried out at a medium‐size manufacturing organization in east Asia. The study tries to highlight the importance of supply chain management; specifically, our aim for this study is to understand logistics and performance measurement in the logistics and supply chain, and we include a theoretical discussion of online data collected and a case study of the logistic performance of a real organization. The study also examines the performance of the selected company, identifies the problems and provides recommendations for improvements. This study can be a guide for business advisers and those interested in analysing company performance, especially from a logistics viewpoint. We also suggest the methodology of this case study for those who want to have a better understanding of a business environment before starting their own business, or for benchmarking practice during strategic planning.

  14. Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci

    Kettunen, J; Perola, M; Martin, N G

    2009-01-01

    OBJECTIVE: To identify common loci and potential genetic variants affecting body mass index (BMI, kg m(-2)) in study populations originating from Europe. DESIGN: We combined genome-wide linkage scans of six cohorts from Australia, Denmark, Finland, the Netherlands, Sweden and the United Kingdom...... with an approximately 10-cM microsatellite marker map. Variance components linkage analysis was carried out with age, sex and country of origin as covariates. SUBJECTS: The GenomEUtwin consortium consists of twin cohorts from eight countries (Australia, Denmark, the Netherlands, Finland, Italy, Norway, Sweden...... and the United Kingdom) with a total data collection of more than 500,000 monozygotic and dizygotic (DZ) twin pairs. Variance due to early-life events and the environment is reduced within twin pairs, which makes DZ pairs highly valuable for linkage studies of complex traits. This study totaled 4401 European-originated...

  15. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate

    Feng, Hongshu; Lee, A.; Gasser, D.L. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); Sassani, R.; Bartlett, S.P. [Children`s Hospital of Philadelphia, PA (United States); Buetow, K.H. [Fox Chase Cancer Center, Philadelphia, PA (United States); Hecht, J.T. [Univ. of Texas Medical School, Houston, TX (United States); Malcolm, S.; Winter, R.M.; Vintiner, G.M. [Univ. of London (United Kingdom)

    1994-11-01

    The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.

  16. Bayesian estimates of linkage disequilibrium

    Abad-Grau María M

    2007-06-01

    Full Text Available Abstract Background The maximum likelihood estimator of D' – a standard measure of linkage disequilibrium – is biased toward disequilibrium, and the bias is particularly evident in small samples and rare haplotypes. Results This paper proposes a Bayesian estimation of D' to address this problem. The reduction of the bias is achieved by using a prior distribution on the pair-wise associations between single nucleotide polymorphisms (SNPs that increases the likelihood of equilibrium with increasing physical distances between pairs of SNPs. We show how to compute the Bayesian estimate using a stochastic estimation based on MCMC methods, and also propose a numerical approximation to the Bayesian estimates that can be used to estimate patterns of LD in large datasets of SNPs. Conclusion Our Bayesian estimator of D' corrects the bias toward disequilibrium that affects the maximum likelihood estimator. A consequence of this feature is a more objective view about the extent of linkage disequilibrium in the human genome, and a more realistic number of tagging SNPs to fully exploit the power of genome wide association studies.

  17. Diagnostic colonoscopy: performance measurement study.

    Kuznets, Naomi

    2002-07-01

    This is the fifth of a series of best practices studies undertaken by the Performance Measurement Initiative (PMI), the centerpiece of the Institute for Quality Improvement (IQI), a not-for-profit quality improvement subsidiary of the Accreditation Association for Ambulatory Health Care (AAAHC) (Performance Measurement Initiative, 1999a, 1999b, 2000a, 2000b). The IQI was created to offer clinical performance measurement and improvement opportunities to ambulatory health care organizations and others interested in quality patient care. The purpose of the study was to provide opportunities to initiate clinical performance measurement on key processes and outcomes for this procedure and use this information for clinical quality improvement. This article provides performance measurement information on how organizations that have demonstrated and validated differences in clinical practice can have similar outcomes, but at a dramatically lower cost. The intent of the article is to provide organizations with alternatives in practice to provide a better value to their patients.

  18. Design of special planar linkages

    Zhao, Jing-Shan; Ma, Ning; Chu, Fulei

    2013-01-01

    Planar linkages play a very important role in mechanical engineering. As the simplest closed chain mechanisms, planar four-bar linkages are widely used in mechanical engineering, civil engineering and aerospace engineering.Design of Special Planar Linkages proposes a uniform design theory for planar four-bar linkages. The merit of the method proposed in this book is that it allows engineers to directly obtain accurate results when there are such solutions for the specified n precise positions; otherwise, the best approximate solutions will be found. This book discusses the kinematics and reach

  19. A microsatellite linkage map of Drosophila mojavensis

    Schully Sheri

    2004-05-01

    Full Text Available Abstract Background Drosophila mojavensis has been a model system for genetic studies of ecological adaptation and speciation. However, despite its use for over half a century, no linkage map has been produced for this species or its close relatives. Results We have developed and mapped 90 microsatellites in D. mojavensis, and we present a detailed recombinational linkage map of 34 of these microsatellites. A slight excess of repetitive sequence was observed on the X-chromosome relative to the autosomes, and the linkage groups have a greater recombinational length than the homologous D. melanogaster chromosome arms. We also confirmed the conservation of Muller's elements in 23 sequences between D. melanogaster and D. mojavensis. Conclusions The microsatellite primer sequences and localizations are presented here and made available to the public. This map will facilitate future quantitative trait locus mapping studies of phenotypes involved in adaptation or reproductive isolation using this species.

  20. Genome wide linkage disequilibrium in Chinese asparagus bean (Vigna. unguiculata ssp. sesquipedialis) germplasm: implications for domestication history and genome wide association studies.

    Xu, P; Wu, X; Wang, B; Luo, J; Liu, Y; Ehlers, J D; Close, T J; Roberts, P A; Lu, Z; Wang, S; Li, G

    2012-07-01

    Association mapping of important traits of crop plants relies on first understanding the extent and patterns of linkage disequilibrium (LD) in the particular germplasm being investigated. We characterize here the genetic diversity, population structure and genome wide LD patterns in a set of asparagus bean (Vigna. unguiculata ssp. sesquipedialis) germplasm from China. A diverse collection of 99 asparagus bean and normal cowpea accessions were genotyped with 1127 expressed sequence tag-derived single nucleotide polymorphism markers (SNPs). The proportion of polymorphic SNPs across the collection was relatively low (39%), with an average number of SNPs per locus of 1.33. Bayesian population structure analysis indicated two subdivisions within the collection sampled that generally represented the 'standard vegetable' type (subgroup SV) and the 'non-standard vegetable' type (subgroup NSV), respectively. Level of LD (r(2)) was higher and extent of LD persisted longer in subgroup SV than in subgroup NSV, whereas LD decayed rapidly (0-2 cM) in both subgroups. LD decay distance varied among chromosomes, with the longest (≈ 5 cM) five times longer than the shortest (≈ 1 cM). Partitioning of LD variance into within- and between-subgroup components coupled with comparative LD decay analysis suggested that linkage group 5, 7 and 10 may have undergone the most intensive epistatic selection toward traits favorable for vegetable use. This work provides a first population genetic insight into domestication history of asparagus bean and demonstrates the feasibility of mapping complex traits by genome wide association study in asparagus bean using a currently available cowpea SNPs marker platform.

  1. Heritability and linkage analysis of personality in bipolar disorder.

    Greenwood, Tiffany A; Badner, Judith A; Byerley, William; Keck, Paul E; McElroy, Susan L; Remick, Ronald A; Dessa Sadovnick, A; Kelsoe, John R

    2013-11-01

    The many attempts that have been made to identify genes for bipolar disorder (BD) have met with limited success, which may reflect an inadequacy of diagnosis as an informative and biologically relevant phenotype for genetic studies. Here we have explored aspects of personality as quantitative phenotypes for bipolar disorder through the use of the Temperament and Character Inventory (TCI), which assesses personality in seven dimensions. Four temperament dimensions are assessed: novelty seeking (NS), harm avoidance (HA), reward dependence (RD), and persistence (PS). Three character dimensions are also included: self-directedness (SD), cooperativeness (CO), and self-transcendence (ST). We compared personality scores between diagnostic groups and assessed heritability in a sample of 101 families collected for genetic studies of BD. A genome-wide SNP linkage analysis was then performed in the subset of 51 families for which genetic data was available. Significant group differences were observed between BD subjects, their first-degree relatives, and independent controls for all but RD and PS, and all but HA and RD were found to be significantly heritable in this sample. Linkage analysis of the heritable dimensions produced several suggestive linkage peaks for NS (chromosomes 7q21 and 10p15), PS (chromosomes 6q16, 12p13, and 19p13), and SD (chromosomes 4q35, 8q24, and 18q12). The relatively small size of our linkage sample likely limited our ability to reach genome-wide significance in this study. While not genome-wide significant, these results suggest that aspects of personality may prove useful in the identification of genes underlying BD susceptibility. © 2013 Elsevier B.V. All rights reserved.

  2. The Barley Chromosome 5 Linkage Map

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The distances between nine loci on barley chromosome 5 have been studied in five two-point tests, three three-point tests, and one four-point test. Our previous chromosome 5 linkage map, which contained eleven loci mapped from literature data (Jensen and Jørgensen 1975), is extended with four loci......-position is fixed on the map by a locus (necl), which has a good marker gene located centrally in the linkage group. The positions of the other loci are their distances in centimorgans from the 0-position; loci in the direction of the short chromosome arm are assigned positive values and those...

  3. A Formalization of Linkage Analysis

    Ingolfsdottir, Anna; Christensen, A.I.; Hansen, Jens A.

    In this report a formalization of genetic linkage analysis is introduced. Linkage analysis is a computationally hard biomathematical method, which purpose is to locate genes on the human genome. It is rooted in the new area of bioinformatics and no formalization of the method has previously been ...

  4. Fine mapping quantitative trait loci under selective phenotyping strategies based on linkage and linkage disequilibrium criteria

    Ansari-Mahyari, S; Berg, P; Lund, M S

    2009-01-01

    disequilibrium-based sampling criteria (LDC) for selecting individuals to phenotype are compared to random phenotyping in a quantitative trait loci (QTL) verification experiment using stochastic simulation. Several strategies based on LAC and LDC for selecting the most informative 30%, 40% or 50% of individuals...... for phenotyping to extract maximum power and precision in a QTL fine mapping experiment were developed and assessed. Linkage analyses for the mapping was performed for individuals sampled on LAC within families and combined linkage disequilibrium and linkage analyses was performed for individuals sampled across...... the whole population based on LDC. The results showed that selecting individuals with similar haplotypes to the paternal haplotypes (minimum recombination criterion) using LAC compared to random phenotyping gave at least the same power to detect a QTL but decreased the accuracy of the QTL position. However...

  5. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

    Berger, W; van Duijnhoven, G; Pinckers, A; Smits, A; Ropers, H H; Cremers, F

    1995-01-01

    Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.

  6. HIV-1 transmission linkage in an HIV-1 prevention clinical trial

    Leitner, Thomas [Los Alamos National Laboratory; Campbell, Mary S [UNIV OF WASHINGTON; Mullins, James I [UNIV OF WASHINGTON; Hughes, James P [UNIV OF WASHINGTON; Wong, Kim G [UNIV OF WASHINGTON; Raugi, Dana N [UNIV OF WASHINGTON; Scrensen, Stefanie [UNIV OF WASHINGTON

    2009-01-01

    HIV-1 sequencing has been used extensively in epidemiologic and forensic studies to investigate patterns of HIV-1 transmission. However, the criteria for establishing genetic linkage between HIV-1 strains in HIV-1 prevention trials have not been formalized. The Partners in Prevention HSV/HIV Transmission Study (ClinicaITrials.gov NCT00194519) enrolled 3408 HIV-1 serodiscordant heterosexual African couples to determine the efficacy of genital herpes suppression with acyclovir in reducing HIV-1 transmission. The trial analysis required laboratory confirmation of HIV-1 linkage between enrolled partners in couples in which seroconversion occurred. Here we describe the process and results from HIV-1 sequencing studies used to perform transmission linkage determination in this clinical trial. Consensus Sanger sequencing of env (C2-V3-C3) and gag (p17-p24) genes was performed on plasma HIV-1 RNA from both partners within 3 months of seroconversion; env single molecule or pyrosequencing was also performed in some cases. For linkage, we required monophyletic clustering between HIV-1 sequences in the transmitting and seroconverting partners, and developed a Bayesian algorithm using genetic distances to evaluate the posterior probability of linkage of participants sequences. Adjudicators classified transmissions as linked, unlinked, or indeterminate. Among 151 seroconversion events, we found 108 (71.5%) linked, 40 (26.5%) unlinked, and 3 (2.0%) to have indeterminate transmissions. Nine (8.3%) were linked by consensus gag sequencing only and 8 (7.4%) required deep sequencing of env. In this first use of HIV-1 sequencing to establish endpoints in a large clinical trial, more than one-fourth of transmissions were unlinked to the enrolled partner, illustrating the relevance of these methods in the design of future HIV-1 prevention trials in serodiscordant couples. A hierarchy of sequencing techniques, analysis methods, and expert adjudication contributed to the linkage

  7. Some methods for blindfolded record linkage

    Christen Peter

    2004-06-01

    Full Text Available Abstract Background The linkage of records which refer to the same entity in separate data collections is a common requirement in public health and biomedical research. Traditionally, record linkage techniques have required that all the identifying data in which links are sought be revealed to at least one party, often a third party. This necessarily invades personal privacy and requires complete trust in the intentions of that party and their ability to maintain security and confidentiality. Dusserre, Quantin, Bouzelat and colleagues have demonstrated that it is possible to use secure one-way hash transformations to carry out follow-up epidemiological studies without any party having to reveal identifying information about any of the subjects – a technique which we refer to as "blindfolded record linkage". A limitation of their method is that only exact comparisons of values are possible, although phonetic encoding of names and other strings can be used to allow for some types of typographical variation and data errors. Methods A method is described which permits the calculation of a general similarity measure, the n-gram score, without having to reveal the data being compared, albeit at some cost in computation and data communication. This method can be combined with public key cryptography and automatic estimation of linkage model parameters to create an overall system for blindfolded record linkage. Results The system described offers good protection against misdeeds or security failures by any one party, but remains vulnerable to collusion between or simultaneous compromise of two or more parties involved in the linkage operation. In order to reduce the likelihood of this, the use of last-minute allocation of tasks to substitutable servers is proposed. Proof-of-concept computer programmes written in the Python programming language are provided to illustrate the similarity comparison protocol. Conclusion Although the protocols described in

  8. Cytogenetical anchoring of sheep linkage map and syntenic groups using a sheep BAC library

    Cribiu Edmond-Paul

    2000-07-01

    Full Text Available Abstract In order to simultaneously integrate linkage and syntenic groups to the ovine chromosomal map, a sheep bacterial artificial chromosome (BAC library was screened with previously assigned microsatellites using a sheep-hamster hybrid panel and genetic linkage. Thirty-three BACs were obtained, fluorescently labelled and hybridised on sheep-goat hybrid metaphases (2n = 57. This study allowed us, (i, to anchor all linkage groups on sheep chromosomes, (ii, to give information on the probable position of the centromere on the linkage map for the centromeric chromosomes, (iii, to contradict the previous orientation of the ovine × linkage group by the mapping of BMS1008 on OARXq38. Concerning our somatic cell hybrid panel, this study resulted in the assignment of all the previously unassigned groups to ovine chromosomes and a complete characterisation of the hybrid panel. In addition, since hybridisations were performed on a sheep-goat hybrid, new marker/anchoring points were added to the caprine cytogenetic map.

  9. Effects of aquaculture researchers' job characteristics on linkage ...

    The study examined the effects of researchers' job characteristics on linkage activities in Nigeria due to the fact that many fish farmers have not been properly reached with technologies and the problem of poor fish production has been attributed to the weak linkages existing between research, extension and fish farmers.

  10. Diffusion, swelling, cross linkage study and mechanical properties of ZnO doped PVA/NaAlg blend polymer nanocomposite

    Guruswamy, B.; Ravindrachary, V.; Shruthi, C.; Hegde, Shreedatta; Sagar, Rohan N.

    2018-04-01

    ZnO nano particles were synthesized using a chemical precipitation method. Pure and ZnO nano particle doped PVA-NaAlg blend composite films were prepared using solution casing method. Structural information of these composites was studied using FTIR. Diffusion kinetics of these polymer blend composite were studied using Flory-Huggins theory. Using these diffusion studies, cross-linking density and swelling properties of the films were analyzed. Mechanical properties of these composite are also studied.

  11. Reporting Errors in Siblings’ Survival Histories and Their Impact on Adult Mortality Estimates: Results From a Record Linkage Study in Senegal

    Helleringer, Stéphane; Pison, Gilles; Kanté, Almamy M.; Duthé, Géraldine; Andro, Armelle

    2014-01-01

    Estimates of adult mortality in countries with limited vital registration (e.g., sub-Saharan Africa) are often derived from information about the survival of a respondent’s siblings. We evaluated the completeness and accuracy of such data through a record linkage study conducted in Bandafassi, located in southeastern Senegal. We linked at the individual level retrospective siblings’ survival histories (SSH) reported by female respondents (n = 268) to prospective mortality data and genealogies collected through a health and demographic surveillance system (HDSS). Respondents often reported inaccurate lists of siblings. Additions to these lists were uncommon, but omissions were frequent: respondents omitted 3.8 % of their live sisters, 9.1 % of their deceased sisters, and 16.6 % of their sisters who had migrated out of the DSS area. Respondents underestimated the age at death of the siblings they reported during the interview, particularly among siblings who had died at older ages (≥45 years). Restricting SSH data to person-years and events having occurred during a recent reference period reduced list errors but not age and date errors. Overall, SSH data led to a 20 % underestimate of 45q15 relative to HDSS data. Our study suggests new quality improvement strategies for SSH data and demonstrates the potential use of HDSS data for the validation of “unconventional” demographic techniques. PMID:24493063

  12. Reporting errors in siblings' survival histories and their impact on adult mortality estimates: results from a record linkage study in Senegal.

    Helleringer, Stéphane; Pison, Gilles; Kanté, Almamy M; Duthé, Géraldine; Andro, Armelle

    2014-04-01

    Estimates of adult mortality in countries with limited vital registration (e.g., sub-Saharan Africa) are often derived from information about the survival of a respondent's siblings. We evaluated the completeness and accuracy of such data through a record linkage study conducted in Bandafassi, located in southeastern Senegal. We linked at the individual level retrospective siblings' survival histories (SSH) reported by female respondents (n = 268) to prospective mortality data and genealogies collected through a health and demographic surveillance system (HDSS). Respondents often reported inaccurate lists of siblings. Additions to these lists were uncommon, but omissions were frequent: respondents omitted 3.8 % of their live sisters, 9.1 % of their deceased sisters, and 16.6 % of their sisters who had migrated out of the DSS area. Respondents underestimated the age at death of the siblings they reported during the interview, particularly among siblings who had died at older ages (≥45 years). Restricting SSH data to person-years and events having occurred during a recent reference period reduced list errors but not age and date errors. Overall, SSH data led to a 20 % underestimate of 45 q 15 relative to HDSS data. Our study suggests new quality improvement strategies for SSH data and demonstrates the potential use of HDSS data for the validation of "unconventional" demographic techniques.

  13. Rationales Shaping International Linkages in Higher Education: A Qualitative Case Study of the ASU-ITESM Strategic Alliance

    Camacho Lizarraga, Monica Irene

    2011-01-01

    This qualitative case study examines the rationales of the relationship between Arizona State University (ASU)--an American public research university--and Tecnologico de Monterrey (ITESM), a Mexican private not for profit research university. The focus of the study is to document the different meanings participants attached to the rationales of…

  14. Haplotype diversity and linkage disequilibrium at DRD2 locus--a study on four population groups of Andhra Pradesh, India.

    Saraswathy, Kallur Nava; Mukhopadhyay, Rupak; Shukla, Deepti; Kaur, Harpreet; Sachdeva, Mohinder Pal; Rao, A P; Saksena, Deepti; Kalla, Aloke Kumar

    2009-02-01

    Dopamine receptor D2 (DRD2) is expressed in the central nervous system and has a high affinity for many antipsychotic drugs. Besides several epidemiological investigations on association of DRD2 locus polymorphism(s) with neuropsychiatric problems and addictive behavior, a few polymorphisms in this locus have also been used to understand genomic diversity and population migratory histories globally. The present study attempts to understand the genomic diversity/affinity among four endogamous groups of Andhra Pradesh (India) against the backdrop of diversity studies from other parts of India and the rest of the world, with special reference to DRD2 locus. The four population groups from Adilabad District of Andhra Pradesh, namely, Brahmin (n=50), Nayakpod (n=49), Thoti (n=52), and Kolam (n=53), were included in the study. The DRD2 markers typed for the present study are three biallelic restriction fragments, that is, TaqI A (rs1800497), TaqI B (rs1079597), and TaqI D (rs1800498). Scoring of DRD2 haplotypes with respect to the three TaqI sites shows that five out of eight possible haplotypes are shared by the four populations. Ancestral haplotype B2D2A1 is most frequent among Thotis (0.359). The results of the present study indicate a differential gene flow into South India followed by certain important demographic events resulting in diversified peopling of India.

  15. Enhancing Public Health HIV Interventions: A Qualitative Meta-Synthesis and Systematic Review of Studies to Improve Linkage to Care, Adherence, and Retention

    Joseph D. Tucker

    2017-03-01

    Full Text Available Although HIV services are expanding, few have reached the scale necessary to support universal viral suppression of individuals living with HIV. The purpose of this systematic review was to summarize the qualitative evidence evaluating public health HIV interventions to enhance linkage to care, antiretroviral drug (ARV adherence, and retention in care. We searched 19 databases without language restrictions. The review collated data from three separate qualitative evidence reviews addressing each of the three outcomes along the care continuum. 21,738 citations were identified and 24 studies were included in the evidence review. Among low and middle-income countries in Africa, men living with HIV had decreased engagement in interventions compared to women and this lack of engagement among men also influenced the willingness of their partners to engage in services. Four structural issues (poverty, unstable housing, food insecurity, lack of transportation mediated the feasibility and acceptability of public health HIV interventions. Individuals living with HIV identified unmet mental health needs that interfered with their ability to access HIV services. Persistent social and cultural factors contribute to disparities in HIV outcomes across the continuum of care, shaping the context of service delivery among important subpopulations.

  16. Examining uncertainties in the linkage between global climate change and potential human health impacts in the western USA -- Hexachlorobenzene (HCB) as a case study

    McKone, T.E.; Daniels, J.I. [Lawrence Livermore National Lab., CA (United States); Goldman, M. [Univ. of California, Davis, CA (United States)

    1994-09-30

    Industrial societies have altered the earth`s environment in ways that could have important, long-term ecological, economic, and health implications. In this paper the authors define, characterize, and evaluate parameter and outcome uncertainties using a model that links global climate change with predictions of chemical exposure and human health risk in the western region of the US. They illustrate the impact of uncertainty about global climate change on such potential secondary outcomes using as a case study the public health consequences related to the behavior environmentally of hexachlorobenzene (HCB), an ubiquitous multimedia pollutant. They begin by constructing a matrix that reveals the linkage between global environmental change and potential regional human-health effects that might be induced directly and/or indirectly by HCB released into the air and water. This matrix is useful for translating critical uncertainties into terms that can be understood and used by policy makers to formulate strategies against potential adverse irreversible health and economic consequences. Specifically, the authors employ a combined uncertainty/sensitivity analysis to investigate how the HCB that has been released is affected by increasing atmospheric temperature and the accompanying climate alterations that are anticipated and how such uncertainty propagates to affect the expected magnitude and calculational precision of estimates of associated potential human exposures and health effects.

  17. Enhancing Public Health HIV Interventions: A Qualitative Meta-Synthesis and Systematic Review of Studies to Improve Linkage to Care, Adherence, and Retention.

    Tucker, Joseph D; Tso, Lai Sze; Hall, Brian; Ma, Qingyan; Beanland, Rachel; Best, John; Li, Haochu; Lackey, Mellanye; Marley, Gifty; Rich, Zachary C; Sou, Ka-Lon; Doherty, Meg

    2017-03-01

    Although HIV services are expanding, few have reached the scale necessary to support universal viral suppression of individuals living with HIV. The purpose of this systematic review was to summarize the qualitative evidence evaluating public health HIV interventions to enhance linkage to care, antiretroviral drug (ARV) adherence, and retention in care. We searched 19 databases without language restrictions. The review collated data from three separate qualitative evidence reviews addressing each of the three outcomes along the care continuum. 21,738 citations were identified and 24 studies were included in the evidence review. Among low and middle-income countries in Africa, men living with HIV had decreased engagement in interventions compared to women and this lack of engagement among men also influenced the willingness of their partners to engage in services. Four structural issues (poverty, unstable housing, food insecurity, lack of transportation) mediated the feasibility and acceptability of public health HIV interventions. Individuals living with HIV identified unmet mental health needs that interfered with their ability to access HIV services. Persistent social and cultural factors contribute to disparities in HIV outcomes across the continuum of care, shaping the context of service delivery among important subpopulations. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  18. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

    Kayser, Manfred; Liu, Fan; Janssens, A. Cecile J. W.; Rivadeneira, Fernando; Lao, Oscar; van Duijn, Kate; Vermeulen, Mark; Arp, Pascal; Jhamai, Mila M.; van Ijcken, Wilfred F. J.; den Dunnen, Johan T.; Heath, Simon; Zelenika, Diana; Despriet, Dominiek D. G.; Klaver, Caroline C. W.; Vingerling, Johannes R.; de Jong, Paulus T. V. M.; Hofman, Albert; Aulchenko, Yurii S.; Uitterlinden, Andre G.; Oostra, Ben A.; van Duijn, Cornelia M.

    2008-01-01

    Human iris color was one of the first traits for which Mendelian segregation was established. To date, the genetics of iris color is still not fully understood and is of interest, particularly in view of forensic applications. In three independent genome-wide association (GWA) studies of a total of

  19. Franchising Public Education: A Study of the Linkage of Charter Schools and Private Education Management Companies in Massachusetts.

    Rhim, Lauren Morando

    School franchising (defined as the replication of a particular product or service across a wide geographic region) marks a radical departure from the traditional view of the community-based neighborhood school. This paper reports on a study of a growing niche of charter school private management contracts in Massachusetts. The focus is on the…

  20. 3D numerical modelling of graben interaction and linkage: a case study of the Canyonlands grabens, Utah

    Allken, V.; Huismans, R.S.; Fossen, H.; Thieulot, C.

    2013-01-01

    Graben systems in extensional settings tend to be segmented with evidence of segment interaction. To gain a better understanding of the evolution of structures formed during graben growth and interaction, we here study the Grabens area of Canyonlands National Park, Utah, where a wide range of such

  1. Privacy-preserving record linkage on large real world datasets.

    Randall, Sean M; Ferrante, Anna M; Boyd, James H; Bauer, Jacqueline K; Semmens, James B

    2014-08-01

    Record linkage typically involves the use of dedicated linkage units who are supplied with personally identifying information to determine individuals from within and across datasets. The personally identifying information supplied to linkage units is separated from clinical information prior to release by data custodians. While this substantially reduces the risk of disclosure of sensitive information, some residual risks still exist and remain a concern for some custodians. In this paper we trial a method of record linkage which reduces privacy risk still further on large real world administrative data. The method uses encrypted personal identifying information (bloom filters) in a probability-based linkage framework. The privacy preserving linkage method was tested on ten years of New South Wales (NSW) and Western Australian (WA) hospital admissions data, comprising in total over 26 million records. No difference in linkage quality was found when the results were compared to traditional probabilistic methods using full unencrypted personal identifiers. This presents as a possible means of reducing privacy risks related to record linkage in population level research studies. It is hoped that through adaptations of this method or similar privacy preserving methods, risks related to information disclosure can be reduced so that the benefits of linked research taking place can be fully realised. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. A case study of the Secure Anonymous Information Linkage (SAIL) Gateway: A privacy-protecting remote access system for health-related research and evaluation☆

    Jones, Kerina H.; Ford, David V.; Jones, Chris; Dsilva, Rohan; Thompson, Simon; Brooks, Caroline J.; Heaven, Martin L.; Thayer, Daniel S.; McNerney, Cynthia L.; Lyons, Ronan A.

    2014-01-01

    With the current expansion of data linkage research, the challenge is to find the balance between preserving the privacy of person-level data whilst making these data accessible for use to their full potential. We describe a privacy-protecting safe haven and secure remote access system, referred to as the Secure Anonymised Information Linkage (SAIL) Gateway. The Gateway provides data users with a familiar Windows interface and their usual toolsets to access approved anonymously-linked datasets for research and evaluation. We outline the principles and operating model of the Gateway, the features provided to users within the secure environment, and how we are approaching the challenges of making data safely accessible to increasing numbers of research users. The Gateway represents a powerful analytical environment and has been designed to be scalable and adaptable to meet the needs of the rapidly growing data linkage community. PMID:24440148

  3. A case study of the Secure Anonymous Information Linkage (SAIL) Gateway: a privacy-protecting remote access system for health-related research and evaluation.

    Jones, Kerina H; Ford, David V; Jones, Chris; Dsilva, Rohan; Thompson, Simon; Brooks, Caroline J; Heaven, Martin L; Thayer, Daniel S; McNerney, Cynthia L; Lyons, Ronan A

    2014-08-01

    With the current expansion of data linkage research, the challenge is to find the balance between preserving the privacy of person-level data whilst making these data accessible for use to their full potential. We describe a privacy-protecting safe haven and secure remote access system, referred to as the Secure Anonymised Information Linkage (SAIL) Gateway. The Gateway provides data users with a familiar Windows interface and their usual toolsets to access approved anonymously-linked datasets for research and evaluation. We outline the principles and operating model of the Gateway, the features provided to users within the secure environment, and how we are approaching the challenges of making data safely accessible to increasing numbers of research users. The Gateway represents a powerful analytical environment and has been designed to be scalable and adaptable to meet the needs of the rapidly growing data linkage community. Copyright © 2014 The Aurthors. Published by Elsevier Inc. All rights reserved.

  4. Ground-penetrating radar study of the Cena Bog, Latvia: linkage of reflections with peat moisture content

    Karušs, J.

    2015-12-01

    Full Text Available Present work illustrates results of the ground-penetrating radar (GPR study of the Cena Bog, Latvia. Six sub-horizontal reflections that most probably correspond to boundaries between sediments with different electromagnetic properties were identified. One of the reflections corresponds to bog peat mineral bottom interface but the rest are linked to boundaries within the peat body. The radar profiles are incorporated with sediment cores and studies of peat moisture and ash content, and degree of decomposition. Most of the electromagnetic wave reflections are related to changes in peat moisture content. The obtained data show that peat moisture content changes of at least 3 % are required to cause GPR signal reflection. However, there exist reflections that do not correlate with peat moisture content. As a result, authors disagree with a dominant opinion that all reflections in bogs are solely due to changes in volumetric peat moisture content.

  5. [Individual linkage of primary data with secondary and registry data within large cohort studies - capabilities and procedural proposals].

    Stallmann, C; Ahrens, W; Kaaks, R; Pigeot, I; Swart, E; Jacobs, S

    2015-02-01

    Some German cohort studies have already linked secondary and registry data with primary data from interviews and medical examinations. This offers the opportunity to obtain more valid information by taking advantage of the strengths of these data synergistically and overcome their individual weaknesses at the same time. The potential and the requirements for linking secondary and registry data with primary data from cohort studies is described generally and illustrated by the example of the "German National Cohort" (GNC). The transfer and usage of secondary and registry data require that administrative and logistic efforts be made over the whole study period. In addition, rigid data protection regulations for using social data have to be observed. The particular strengths of secondary and registry data, namely their objectivity and independence from recall bias, add to the strengths of newly collected primary data and improve the assessment of morbidity endpoints, exposure history and need of patient care. Moreover, new insights on quality and on the added value of linking different data sources may be obtained. © Georg Thieme Verlag KG Stuttgart · New York.

  6. From Enclave to Linkage Economies?

    Hansen, Michael W.

    as the enclave economy par excellence, moving in with fully integrated value chains, extracting resources and exporting them as commodities having virtually no linkages to the local economy. However, new opportunities for promoting linkages are offered by changing business strategies of local African enterprises...... as well as foreign multinational corporations (MNCs). MNCs in extractives are increasingly seeking local linkages as part of their efficiency, risk, and asset-seeking strategies, and linkage programmes are becoming integral elements in many MNCs’ corporate social responsibility (CSR) activities....... At the same time, local African enterprises are eager to, and increasingly capable of, linking up to the foreign investors in order to expand their activities and acquire technology, skills and market access. The changing strategies of MNCs and the improving capabilities of African enterprises offer new...

  7. Thiazides and Osteoporotic Spinal Fractures: A Suspected Linkage Investigated by Means of a Two-Center, Case-Control Study.

    De Vecchis, Renato; Ariano, Carmelina; Di Biase, Giuseppina; Noutsias, Michel

    2017-11-01

    An alleged association of chronic use of thiazide diuretics with an increased risk of bone fragility fractures has been highlighted by a relatively recent prospective cohort study. However, the concept that thiazides exert a beneficial effect on osteoporosis is still a predominant view. This effect would be mediated by the decrease in renal clearance of calcium ions, a pharmacological feature recognized for a long time now to this class of drugs, as opposed to the increase in calcium urinary excretion attributed instead to loop diuretics, i.e. furosemide and similar drugs. The purpose of this retrospective study was to attempt to clarify whether regular use of thiazide diuretics as antihypertensive therapeutics is associated with a significantly increased risk of osteoporotic fractures in female patients aged 65 or over. In this two-center retrospective study, we followed up a cohort of female patients with (n = 80) and without (n = 158) thiazide-induced hyponatremia. A total of 48 osteoporotic fractures were recorded during a median follow-up period of 57.5 months. By means of univariate regression analysis, an association was found between thiazide-induced hyponatremia and increased risk of vertebral fractures (odds ratio (OR): 7.6; 95% confidence interval (CI): 3.755 - 15.39; P fractures. No association of a history of thiazide-induced hyponatremia and risk of fracture was noticeable in the final model. Because thiazide-induced hyponatremia was associated with spinal fractures in univariate but not multivariate analysis, a possible explanation is that hyponatremia may be a confounder of the relation between body mass and spinal fractures. Indeed, reduced body mass especially among elderly women with small body build may confer heightened risk of thiazide-induced hyponatremia because of decreased bone sodium available for exchange with the serum sodium. Thus, occurrence of hyponatremia could only serve as an indirect surrogate marker for osteoporosis risk.

  8. Inequalities in pediatric avoidable hospitalizations between Aboriginal and non-Aboriginal children in Australia: a population data linkage study.

    Falster, Kathleen; Banks, Emily; Lujic, Sanja; Falster, Michael; Lynch, John; Zwi, Karen; Eades, Sandra; Leyland, Alastair H; Jorm, Louisa

    2016-10-21

    Australian Aboriginal children experience a disproportionate burden of social and health disadvantage. Avoidable hospitalizations present a potentially modifiable health gap that can be targeted and monitored using population data. This study quantifies inequalities in pediatric avoidable hospitalizations between Australian Aboriginal and non-Aboriginal children. This statewide population-based cohort study included 1 121 440 children born in New South Wales, Australia, between 1 July 2000 and 31 December 2012, including 35 609 Aboriginal children. Using linked hospital data from 1 July 2000 to 31 December 2013, we identified pediatric avoidable, ambulatory care sensitive and non-avoidable hospitalization rates for Aboriginal and non-Aboriginal children. Absolute and relative inequalities between Aboriginal and non-Aboriginal children were measured as rate differences and rate ratios, respectively. Individual-level covariates included age, sex, low birth weight and/or prematurity, and private health insurance/patient status. Area-level covariates included remoteness of residence and area socioeconomic disadvantage. There were 365 386 potentially avoidable hospitalizations observed over the study period, most commonly for respiratory and infectious conditions; Aboriginal children were admitted more frequently for all conditions. Avoidable hospitalization rates were 90.1/1000 person-years (95 % CI, 88.9-91.4) in Aboriginal children and 44.9/1000 person-years (44.8-45.1) in non-Aboriginal children (age and sex adjusted rate ratio = 1.7 (1.7-1.7)). Rate differences and rate ratios declined with age from 94/1000 person-years and 1.9, respectively, for children aged primary care, have potential to narrow this gap.

  9. Overview of the NKS/RAK-1 project 'Strategies for reactor safety' and linkages to piping reliability studies

    Andersson, Kjell

    1997-01-01

    The NKS/RAK-1 project forms part of a four-year research program (1994-97) in the Nordic countries. The general objective of NKS/RAK-1 project is to explore strategies for reactor safety: to investigate and evaluate the safety work, to increase realism and reliability of safety analysis; and to increase the safety of nuclear installations in selected areas. The project has done extensive interview work at utilities and authorities, and analysed a number of case studies. Brief highlights and overviews of the sub-projects are presented in this paper

  10. Identification of myocardial infarction type from electronic hospital data in England and Australia: a comparative data linkage study

    Nedkoff, Lee; Lopez, Derrick; Goldacre, Michael; Hobbs, Michael; Wright, F Lucy

    2017-01-01

    Objective To determine the utility of International Classification of Diseases (ICD) codes in investigating trends in ST-segment elevation myocardial infarction (STEMI) and non-ST-segment elevation myocardial infarction (NSTEMI) using person-linked electronic hospitalisation data in England and Western Australia (WA). Methods All hospital admissions with myocardial infarction (MI) as the principal diagnosis were identified from 2000 to 2013 from both jurisdictions. Fourth-digit ICD-10 codes were used to delineate all MI types—STEMI, NSTEMI, unspecified and subsequent MI. The annual frequency of each MI type was calculated as a proportion of all MI admissions. For all MI and each MI type, age-standardised rates were calculated and age-adjusted Poisson regression models used to estimate annual percentage changes in rates. Results In 2000, STEMI accounted for 49% of all MI admissions in England and 59% in WA, decreasing to 35% and 25% respectively by 2013. Less than 10% of admissions were recorded as NSTEMI in England throughout the study period, whereas by 2013, 70% of admissions were NSTEMI in WA. Unspecified MI comprised 60% of all MI admissions in England by 2013, compared with standards in each country. This has important implications for using electronic hospital data for monitoring MI and identifying MI types for outcome studies. PMID:29133337

  11. Comparison of Vital Statistics Definitions of Suicide against a Coroner Reference Standard: A Population-Based Linkage Study.

    Gatov, Evgenia; Kurdyak, Paul; Sinyor, Mark; Holder, Laura; Schaffer, Ayal

    2018-03-01

    We sought to determine the utility of health administrative databases for population-based suicide surveillance, as these data are generally more accessible and more integrated with other data sources compared to coroners' records. In this retrospective validation study, we identified all coroner-confirmed suicides between 2003 and 2012 in Ontario residents aged 21 and over and linked this information to Statistics Canada's vital statistics data set. We examined the overlap between the underlying cause of death field and secondary causes of death using ICD-9 and ICD-10 codes for deliberate self-harm (i.e., suicide) and examined the sociodemographic and clinical characteristics of misclassified records. Among 10,153 linked deaths, there was a very high degree of overlap between records coded as deliberate self-harm in the vital statistics data set and coroner-confirmed suicides using both ICD-9 and ICD-10 definitions (96.88% and 96.84% sensitivity, respectively). This alignment steadily increased throughout the study period (from 95.9% to 98.8%). Other vital statistics diagnoses in primary fields included uncategorised signs and symptoms. Vital statistics records that were misclassified did not differ from valid records in terms of sociodemographic characteristics but were more likely to have had an unspecified place of injury on the death certificate ( P statistics and coroner classification of suicide deaths suggests that health administrative data can reliably be used to identify suicide deaths.

  12. An infrared study of the nitro—nitrito linkage isomerization in solid nitro- and nitritopentamminecobalt(III) chloride

    Heyns, A. M.; de Waal, D.

    1989-01-01

    The photochemical isomerization reaction of [Co(NH 3) 5NO 2]Cl 2 to [Co(NH 3) 5ONO]Cl 2 has been studied in the solid state by means of i.r. spectroscopy. The reaction is first order with k = 2.53±0.05 × 10 -4s -1 and is much faster ( t1/2=49min) than the well-known spontaneous nitrito → nitro isomerization ( t1/2 = 6 days). The i.r. bands of both the NH 3 and ONO - -groups in the range 4000-50 cm -1 indicate minor differences between the structures of freshly and photochemically prepared [Co(NH 3) 5ONO]Cl 2. The far i.r. spectra indicate the disorder existing in the intermediate products during the isomerization processes.

  13. From linkage studies to epigenetics: what we know and what we need to know in the neurobiology of schizophrenia.

    Ariel eCariaga-Martinez

    2016-05-01

    Full Text Available Schizophrenia is a complex psychiatric disorder characterized by the presence of positive, negative and cognitive symptoms that lacks a unifying neuropathology. In the present paper, we will review the current understanding of molecular dysregulation in schizophrenia, including genetic and epigenetic studies. In relation to the latter, basic research suggests that normal cognition is regulated by epigenetic mechanisms and its dysfunction occurs upon epigenetic misregulation, providing new insights into missing heritability of complex psychiatric diseases, referring to the discrepancy between epidemiological heritability and the proportion of phenotypic variation explained by DNA sequence difference. In schizophrenia the absence of consistently replicated genetic effects together with evidence for lasting changes in gene expression after environmental exposures suggest a role of epigenetic mechanisms. In this review we will focus on epigenetic modifications as a key mechanism through which environmental factors interact with individual's genetic constitution to affect risk of psychotic conditions throughout life.

  14. Work-family conflicts and subsequent sleep medication among women and men: a longitudinal registry linkage study.

    Lallukka, T; Arber, S; Laaksonen, M; Lahelma, E; Partonen, T; Rahkonen, O

    2013-02-01

    Work and family are two key domains of life among working populations. Conflicts between paid work and family life can be detrimental to sleep and other health-related outcomes. This study examined longitudinally the influence of work-family conflicts on subsequent sleep medication. Questionnaire data were derived from the Helsinki Health Study mail surveys in 2001-2002 (2929 women, 793 men) of employees aged 40-60 years. Data concerning sleep medication were derived from the Finnish Social Insurance Institution's registers covering all prescribed medication from 1995 to 2007. Four items measured whether job responsibilities interfered with family life (work to family conflicts), and four items measured whether family responsibilities interfered with work (family to work conflicts). Cox proportional hazard models were fitted, adjusting for age, sleep medication five years before baseline, as well as various family- and work-related covariates. During a five-year follow-up, 17% of women and 10% of men had at least one purchase of prescribed sleep medication. Among women, family to work conflicts were associated with sleep medication over the following 5 years after adjustment for age and prior medication. The association remained largely unaffected after adjusting for family-related and work-related covariates. Work to family conflicts were also associated with subsequent sleep medication after adjustment for age and prior medication. The association attenuated after adjustment for work-related factors. No associations could be confirmed among men. Thus reasons for men's sleep medication likely emerge outside their work and family lives. Concerning individual items, strain-based ones showed stronger associations with sleep medication than more concrete time-based items. In conclusion, in particular family to work conflicts, but also work to family conflicts, are clear determinants of women's sleep medication. Copyright © 2012 Elsevier Ltd. All rights reserved.

  15. Viral linkage in HIV-1 seroconverters and their partners in an HIV-1 prevention clinical trial.

    Mary S Campbell

    2011-03-01

    Full Text Available Characterization of viruses in HIV-1 transmission pairs will help identify biological determinants of infectiousness and evaluate candidate interventions to reduce transmission. Although HIV-1 sequencing is frequently used to substantiate linkage between newly HIV-1 infected individuals and their sexual partners in epidemiologic and forensic studies, viral sequencing is seldom applied in HIV-1 prevention trials. The Partners in Prevention HSV/HIV Transmission Study (ClinicalTrials.gov #NCT00194519 was a prospective randomized placebo-controlled trial that enrolled serodiscordant heterosexual couples to determine the efficacy of genital herpes suppression in reducing HIV-1 transmission; as part of the study analysis, HIV-1 sequences were examined for genetic linkage between seroconverters and their enrolled partners.We obtained partial consensus HIV-1 env and gag sequences from blood plasma for 151 transmission pairs and performed deep sequencing of env in some cases. We analyzed sequences with phylogenetic techniques and developed a Bayesian algorithm to evaluate the probability of linkage. For linkage, we required monophyletic clustering between enrolled partners' sequences and a Bayesian posterior probability of ≥ 50%. Adjudicators classified each seroconversion, finding 108 (71.5% linked, 40 (26.5% unlinked, and 3 (2.0% indeterminate transmissions, with linkage determined by consensus env sequencing in 91 (84%. Male seroconverters had a higher frequency of unlinked transmissions than female seroconverters. The likelihood of transmission from the enrolled partner was related to time on study, with increasing numbers of unlinked transmissions occurring after longer observation periods. Finally, baseline viral load was found to be significantly higher among linked transmitters.In this first use of HIV-1 sequencing to establish endpoints in a large clinical trial, more than one-fourth of transmissions were unlinked to the enrolled partner

  16. Performance study for inlet installations

    Bingaman, Donald C.

    1992-01-01

    A conceptual design trade study was conducted by McDonnell Aircraft Company (MCAIR) and NASA LARC PAB to determine the impact of inlet design features incorporated for reduced detectability on inlet performance, weight, and cost, for both fighter and attack-type aircraft. Quality Function Deployment (QFD) techniques were used to prioritize trade study issues, and select 'best' air induction system configurations for each of two notional aircraft, the Multi-Role Fighter (MRF) and the Advanced Medium Attack (AMA) bomber. Database deficiencies discovered in the trade study process were identified, and technology roadmaps were developed to address these deficiencies. Finally, two high speed inlet wind tunnel model concepts were developed for follow-on wind tunnel investigations.

  17. Risk of cardiovascular disease and total mortality in adults with type 1 diabetes: Scottish registry linkage study.

    Shona J Livingstone

    Full Text Available Randomized controlled trials have shown the importance of tight glucose control in type 1 diabetes (T1DM, but few recent studies have evaluated the risk of cardiovascular disease (CVD and all-cause mortality among adults with T1DM. We evaluated these risks in adults with T1DM compared with the non-diabetic population in a nationwide study from Scotland and examined control of CVD risk factors in those with T1DM.The Scottish Care Information-Diabetes Collaboration database was used to identify all people registered with T1DM and aged ≥20 years in 2005-2007 and to provide risk factor data. Major CVD events and deaths were obtained from the national hospital admissions database and death register. The age-adjusted incidence rate ratio (IRR for CVD and mortality in T1DM (n = 21,789 versus the non-diabetic population (3.96 million was estimated using Poisson regression. The age-adjusted IRR for first CVD event associated with T1DM versus the non-diabetic population was higher in women (3.0: 95% CI 2.4-3.8, p<0.001 than men (2.3: 2.0-2.7, p<0.001 while the IRR for all-cause mortality associated with T1DM was comparable at 2.6 (2.2-3.0, p<0.001 in men and 2.7 (2.2-3.4, p<0.001 in women. Between 2005-2007, among individuals with T1DM, 34 of 123 deaths among 10,173 who were <40 years and 37 of 907 deaths among 12,739 who were ≥40 years had an underlying cause of death of coma or diabetic ketoacidosis. Among individuals 60-69 years, approximately three extra deaths per 100 per year occurred among men with T1DM (28.51/1,000 person years at risk, and two per 100 per year for women (17.99/1,000 person years at risk. 28% of those with T1DM were current smokers, 13% achieved target HbA(1c of <7% and 37% had very poor (≥9% glycaemic control. Among those aged ≥40, 37% had blood pressures above even conservative targets (≥140/90 mmHg and 39% of those ≥40 years were not on a statin. Although many of these risk factors were comparable to those

  18. Birth weight and risk of paediatric Hodgkin lymphoma: Findings from a population-based record linkage study in California.

    Triebwasser, Corey; Wang, Rong; DeWan, Andrew T; Metayer, Catherine; Morimoto, Libby; Wiemels, Joseph L; Kadan-Lottick, Nina; Ma, Xiaomei

    2016-12-01

    To evaluate the relationship between birth weight (along with a variety of pre and perinatal characteristics) and the risk of paediatric Hodgkin lymphoma (HL) diagnosed at age birth records from 1978-2009 and cancer diagnosis data from 1988-2011 to conduct a population-based case-control study with 1216 cases and 4485 controls (matched on birth month and year, sex, and race/ethnicity). Conditional logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (95% CI) of paediatric HL overall and by age of diagnosis, controlling for other perinatal factors. Compared to children with a normal birth weight (2500-3999 g), those who had a high birth weight (≥4000 g) had an increased risk of paediatric HL overall (OR = 1.23, 95% CI: 1.02-1.48) after adjusting for birth order, maternal age at the time of delivery, and paternal age at the time of delivery. The magnitude of association appeared larger for subgroups of children whose age of diagnosis was 0-10 years (OR = 1.56, 95% CI: 1.04-2.24) or 15-19 years (OR = 1.43, 95% CI: 1.11-1.83), while no association was observed in 11-14 year olds. Compared with firstborn children, those who were third or higher in birth order had a reduced risk of paediatric HL overall (OR = 0.80, 95% CI: 0.67-0.95), and this association also varied by age of diagnosis. In this study with the largest number of paediatric HL cases, high birth weight was associated with an increased disease risk for most but not all ages of diagnosis. The different findings by age of diagnosis regarding both birth weight and birth order underscore the importance to stratify paediatric HL by age at diagnosis in future etiological investigations. Copyright © 2016 Elsevier Ltd. All rights reserved.

  19. Healthcare utilization in general practice before and after psychological treatment: a follow-up data linkage study in primary care.

    Prins, Marijn A; Verhaak, Peter F M; Smit, Dineke; Verheij, Robert A

    2014-09-01

    Literature suggests that serious mental health problems increase the use of health services and psychological interventions can reduce this effect. This study investigates whether this effect is also found in primary care patients with less serious mental health problems. Routine electronic health records (EHR) from a representative sample of 128 general practices were linked to patient files from 150 primary care psychologists participating in the NIVEL Primary Care Database, using a trusted third party. Data were linked using the date of birth, gender, and postcode. This yielded 503 unique data pairs that were listed in one of the participating GP practices in 2008-2010, for people who had psychological treatment from a psychologist that ended in 2009. The number of contacts, health problems presented, and prescribed medication in general practice were analysed before and after the psychological treatment. Nearly all 503 patients consulted their GP during the six months preceding the psychological treatment (90.9%) and also in the six months after this treatment had ended (83.7%). The frequency of contacts was significantly higher before than after the psychological treatment (6.1 vs. 4.8). Fewer patients contacted their GPs specifically for psychological or social problems (46.3% vs. 38.8%) and fewer patients had anxiolytic drug prescriptions (15.5% vs. 7.6%) after psychological treatment. After psychological treatment, patients contact their GPs less often and present fewer psychological or social problems. Although contact rates seem to decrease, clients of psychologists are still frequent GP attenders.

  20. A genetic study of various enzyme polymorphisms in Pleurodeles waltlii (Urodele Amphibian). II. Peptidases: demonstration of sex linkage.

    Ferrier, V; Gasser, F; Jaylet, A; Cayrol, C

    1983-06-01

    The existence of four peptidases was demonstrated by starch gel electrophoresis in Pleurodeles waltlii: PEP-1, PEP-2, PEP-3, and PEP-4. Peptidases-3 and -4 are monomorphic, and peptidases-1 and -2 are polymorphic. The heredity of the polymorphisms was studied using individuals arising from crosses or of gynogenetic origin. Peptidase-1 is dimeric; its polymorphism depends on a pair of codominant alleles, Pep-1A and Pep-1B, which are situated on the Z and W sex chromosomes, respectively, in close proximity to, or even within, the sex differential segment. As the differential segment is very close to the centromere, the PEP-1 locus therefore also appears to be closely linked to it. Expression of the PEP-1 locus was shown to be independent of the sex hormone environment. This locus is the first case reported in amphibians of an enzyme marker linked to the genetic sex. It allows the sex of PLeurodeles to be determined before they reach sexual maturity. Peptidase-2 is monomeric. Its polymorphism depends on a pair of codominant alleles on an autosomal PEP-2 locus. The high proportion of heterozygous animals in the gynogenetic offspring of females heterozygous for the PEP-2 locus indicates segregation which is independent of the centromere. Analysis of the offspring of doubly heterozygous females (i.e., for two of the loci--LDH-B, G6PDH, PEP-1, and PEP-2) shows that the four loci are independent.

  1. The score statistic of the LD-lod analysis: detecting linkage adaptive to linkage disequilibrium.

    Huang, J; Jiang, Y

    2001-01-01

    We study the properties of a modified lod score method for testing linkage that incorporates linkage disequilibrium (LD-lod). By examination of its score statistic, we show that the LD-lod score method adaptively combines two sources of information: (a) the IBD sharing score which is informative for linkage regardless of the existence of LD and (b) the contrast between allele-specific IBD sharing scores which is informative for linkage only in the presence of LD. We also consider the connection between the LD-lod score method and the transmission-disequilibrium test (TDT) for triad data and the mean test for affected sib pair (ASP) data. We show that, for triad data, the recessive LD-lod test is asymptotically equivalent to the TDT; and for ASP data, it is an adaptive combination of the TDT and the ASP mean test. We demonstrate that the LD-lod score method has relatively good statistical efficiency in comparison with the ASP mean test and the TDT for a broad range of LD and the genetic models considered in this report. Therefore, the LD-lod score method is an interesting approach for detecting linkage when the extent of LD is unknown, such as in a genome-wide screen with a dense set of genetic markers. Copyright 2001 S. Karger AG, Basel

  2. Exploring the linkage between drought, high temperatures, and hydrologic sensitivities: A case study of the 2012 Great Plains drought.

    Livneh, B.; Hoerling, M. P.

    2014-12-01

    The occurrence of drought is associated with agricultural loss, water supply shortfalls, and other economic impacts. Here we explore the physical relationships between precipitation deficits, high temperatures, and hydrologic responses as a pathway to better anticipate drought impacts. Current methodologies to predict hydrologic scarcity include local monitoring of river flows, remote sensing of land-surface wetness, drought indices, expert judgment, climate indices (e.g. SST-relationships) and the application of hydrologic models. At longer lead times, predictions of drought have most frequently been made on the basis of GCM ensembles, with subsequent downscaling of those to scales over which hydrologic predictions can be made. This study focuses on two important aspects of drought. First, we explore the causal hydro-climatic timeline of a drought event, namely (a) the lack of precipitation, which serves to reduce soil moisture and produce (b) a skewed Bowen ratio, i.e. comparatively more sensible heating (warming) with less ET, resulting in (c) anomalously warm conditions. We seek to assess the extent to which the lack of precipitation contributes to warming temperatures, and the further effects of that warming on hydrology and the severity of drought impacts. An ensemble of GCM simulations will be used to explore the evolution of the land surface energy budget during a recent Great Plains drought event, which will subsequently be used to drive a hydrologic model. Second, we examine the impacts of the critical assumptions relating climatic variables with water demand, specifically the relationship between potential evapotranspiration (PET) and temperature. The common oversimplification in relating PET to temperature is explored against a more physically consistent energy balance estimate of PET, using the Penman-Monteith approach and the hydrologic impacts are presented. Results from this work are anticipated to have broad relevance for future water management

  3. Is treatment for alcohol use disorder associated with reductions in criminal offending? A national data linkage cohort study in England.

    Willey, Helen; Eastwood, Brian; Gee, Ivan L; Marsden, John

    2016-04-01

    This is the first English national study of change in criminal offending following treatment for alcohol use disorder (AUD). All adults treated for AUD by all publicly funded treatment services during April 2008-March 2009 (n=53,017), with data linked to the Police National Computer (April 2006-November 2011). Pre-treatment offender sub-populations were identified by Latent Profile Analysis. The outcome measure was the count of recordable criminal offences during two-year follow-up after admission. A mixed-effects, Poisson regression modelled outcome, adjusting for demographics and clinical information, the latent classes, and treatment exposure covariates. Twenty-two percent of the cohort committed one or more offences in the two years pre-treatment (n=11,742; crude rate, 221.5 offenders per 1000). During follow-up, the number of offenders and offences fell by 23.5% and 24.0%, respectively (crude rate, 69.4 offenders per 1000). During follow-up, a lower number of offences was associated with: completing treatment (adjusted incident rate ratio [IRR] 0.82; 95% confidence interval [CI] 0.79-0.85); receiving inpatient detoxification (IRR 0.84; CI 0.80-0.89); or community pharmacological therapy (IRR 0.89; CI 0.84-0.96). Reconviction was reduced in the sub-population characterised by driving offences (n=1,140; 11.7%), but was relatively high amongst acquisitive (n=768; 58.3% reconvicted) and violent offending sub-populations (n=602; 77.6% reconvicted). Reduced offending was associated with successful completion of AUD treatment and receiving inpatient and pharmacological therapy, but not enrolment in psychological and residential interventions. Treatment services (particularly those providing psychological therapy and residential care) should be alert to offending, especially violent and acquisitive crime, and enhance crime reduction interventions. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Ethnicity and first birth: age, smoking, delivery, gestation, weight and feeding: Scottish Health and Ethnicity Linkage Study.

    Bansal, Narinder; Chalmers, James W T; Fischbacher, Colin M; Steiner, Markus F C; Bhopal, Raj S

    2014-12-01

    We linked census and health service data sets to address the shortage of information comparing maternal characteristics and pregnancy outcomes by ethnic group in Scotland. Retrospective cohort study linking the 2001 National Census for Scotland and hospital obstetric data (2001-08), comparing maternal age, smoking status, gestational age, caesarean section rates, birthweight, preterm birth and breastfeeding rates by ethnic group. In all, 144 344 women were identified as having had a first birth between 1 May 2001 and 30 April 2008. White Scottish mothers were younger [mean age 27.3 years; 95% confidence interval (CI): 27.3, 27.4] than other white groups and most non-white groups. They had the highest smoking rates (25.8%; CI: 25.5, 26.0) and the lowest rates of breastfeeding at 6-8 weeks (23.4%; CI: 23.1, 23.6), with most of the other groups being around 40%. Women from non-white minority ethnic groups in Scotland tended to have babies of lower birthweight (e.g. Pakistani mean birthweight-3105 g, white Scottish-3356 g), even after adjustment for gestational age, maternal age, education, smoking and housing tenure. This effect was more noticeable for women born in the UK. White English, Irish and other white babies tended to have higher birthweights. There was little variation between groups in caesarean section rates. Pregnant women from ethnic minority populations in Scotland have more favourable health behaviour than the white Scottish, although the non-white groups tend to have lower birthweight. Further exploration of the reasons for these differences has potential to benefit women from the majority population. © The Author 2014. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

  5. Psychological distress, optimism and general health in breast cancer survivors: a data linkage study using the Scottish Health Survey.

    Leung, Janni; Atherton, Iain; Kyle, Richard G; Hubbard, Gill; McLaughlin, Deirdre

    2016-04-01

    The aim of this study is to examine the association between optimism and psychological distress in women with breast cancer after taking into account their self-rated general health. Data were aggregated from the Scottish Health Survey (2008 to 2011) to derive a nationally representative sample of 12,255 women (11,960 cancer-free controls, and 295 breast cancer cases identified from linked cancer registry data). The explanatory variables were optimism and general health, and the outcome variable was symptoms of psychological distress. Logistic regression analyses were conducted, with optimism entered in step 1 and general health entered in step 2. In an unadjusted model, higher levels of optimism were associated with lower odds of psychological distress in both the control group (OR = 0. 57, 95 % CI = 0.51-0.60) and breast cancer group (OR = 0. 64, 95 % CI = 0.47-0.88). However, in a model adjusting for general health, optimism was associated with lower odds of psychological distress only in the control group (OR = 0.50, 95 % CI = 0.44-0.57), but not significantly in the breast cancer group (OR = 1.15, 95 % CI = 0.32-4.11). In the breast cancer group, poor general health was a stronger associate of psychological distress (OR = 4. 98, 95 % CI = 1.32-18.75). Results were consistent after adjusting for age, years since breast cancer diagnosis, survey year, socioeconomic status, education, marital status, body mass index, smoking status, and alcohol consumption. This research confirms the value of multicomponent supportive care interventions for women with breast cancer. Specifically, it suggests that following breast cancer diagnosis, health care professionals need to provide advice and signpost to services that assist women to maintain or improve both their psychological and general health.

  6. Comorbidities, treatment patterns and cost-of-illness of acromegaly in Sweden: a register-linkage population-based study.

    Lesén, Eva; Granfeldt, Daniel; Houchard, Aude; Dinet, Jérôme; Berthon, Anthony; Olsson, Daniel S; Björholt, Ingela; Johannsson, Gudmundur

    2017-02-01

    Acromegaly is a complex endocrine disease with multiple comorbidities. Treatment to obtain biochemical remission includes surgery, medical therapy and radiation. We aimed to describe comorbidities, treatment patterns and cost-of-illness in patients with acromegaly in Sweden. A nationwide population-based study. Patients with acromegaly were identified and followed in national registers in Sweden. Longitudinal treatment patterns were assessed in patients diagnosed between July 2005 and December 2013. The cost-of-illness during 2013 was estimated from a societal perspective among patients diagnosed between 1987 and 2013. Among 358 patients with acromegaly (48% men, mean age at diagnosis 50.0 (s.d. 15.3) years) at least one comorbidity was reported in 81% (n = 290). The most common comorbidities were hypertension (40%, n = 142), neoplasms outside the pituitary (30%, n = 109), hypopituitarism (22%, n = 80) and diabetes mellitus (17%, n = 61). Acromegaly treatment was initiated on average 3.7 (s.d. 6.9) months after diagnosis. Among the 301 treated patients, the most common first-line treatments were surgery (60%, n = 180), somatostatin analogues (21%, n = 64) and dopamine agonists (14%, n = 41). After primary surgery, 24% (n = 44) received somatostatin analogues. The annual per-patient cost was €12 000; this was €8700 and €16 000 if diagnosed before or after July 2005, respectively. The cost-of-illness for acromegaly and its comorbidities was 77% from direct costs and 23% from production loss. The prevalence of comorbidity is high in patients with acromegaly. The most common first-line treatment in acromegalic patients was surgery followed by somatostatin analogues. The annual per-patient cost of acromegaly and its comorbidities was €12 000. © 2017 European Society of Endocrinology.

  7. The impact of the built environment on health across the life course: design of a cross-sectional data linkage study

    Villanueva, Karen; Pereira, Gavin; Knuiman, Matthew; Bull, Fiona; Wood, Lisa; Christian, Hayley; Foster, Sarah; Boruff, Bryan J; Beesley, Bridget; Hickey, Sharyn; Joyce, Sarah; Nathan, Andrea; Saarloos, Dick; Giles-Corti, Billie

    2013-01-01

    Introduction The built environment is increasingly recognised as being associated with health outcomes. Relationships between the built environment and health differ among age groups, especially between children and adults, but also between younger, mid-age and older adults. Yet few address differences across life stage groups within a single population study. Moreover, existing research mostly focuses on physical activity behaviours, with few studying objective clinical and mental health outcomes. The Life Course Built Environment and Health (LCBEH) project explores the impact of the built environment on self-reported and objectively measured health outcomes in a random sample of people across the life course. Methods and analysis This cross-sectional data linkage study involves 15 954 children (0–15 years), young adults (16–24 years), adults (25–64 years) and older adults (65+years) from the Perth metropolitan region who completed the Health and Wellbeing Surveillance System survey administered by the Department of Health of Western Australia from 2003 to 2009. Survey data were linked to Western Australia's (WA) Hospital Morbidity Database System (hospital admission) and Mental Health Information System (mental health system outpatient) data. Participants’ residential address was geocoded and features of their ‘neighbourhood’ were measured using Geographic Information Systems software. Associations between the built environment and self-reported and clinical health outcomes will be explored across varying geographic scales and life stages. Ethics and dissemination The University of Western Australia's Human Research Ethics Committee and the Department of Health of Western Australia approved the study protocol (#2010/1). Findings will be published in peer-reviewed journals and presented at local, national and international conferences, thus contributing to the evidence base informing the design of healthy neighbourhoods for all residents. PMID

  8. Probabilistic linkage to enhance deterministic algorithms and reduce data linkage errors in hospital administrative data.

    Hagger-Johnson, Gareth; Harron, Katie; Goldstein, Harvey; Aldridge, Robert; Gilbert, Ruth

    2017-06-30

     BACKGROUND: The pseudonymisation algorithm used to link together episodes of care belonging to the same patients in England (HESID) has never undergone any formal evaluation, to determine the extent of data linkage error. To quantify improvements in linkage accuracy from adding probabilistic linkage to existing deterministic HESID algorithms. Inpatient admissions to NHS hospitals in England (Hospital Episode Statistics, HES) over 17 years (1998 to 2015) for a sample of patients (born 13/28th of months in 1992/1998/2005/2012). We compared the existing deterministic algorithm with one that included an additional probabilistic step, in relation to a reference standard created using enhanced probabilistic matching with additional clinical and demographic information. Missed and false matches were quantified and the impact on estimates of hospital readmission within one year were determined. HESID produced a high missed match rate, improving over time (8.6% in 1998 to 0.4% in 2015). Missed matches were more common for ethnic minorities, those living in areas of high socio-economic deprivation, foreign patients and those with 'no fixed abode'. Estimates of the readmission rate were biased for several patient groups owing to missed matches, which was reduced for nearly all groups. CONCLUSION: Probabilistic linkage of HES reduced missed matches and bias in estimated readmission rates, with clear implications for commissioning, service evaluation and performance monitoring of hospitals. The existing algorithm should be modified to address data linkage error, and a retrospective update of the existing data would address existing linkage errors and their implications.

  9. Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

    A. González-Neira (Anna); J.M. Rosa-Rosa; A. Osorio (Ana); E. Gonzalez (Emilio); M.C. Southey (Melissa); O. Sinilnikova (Olga); H. Lynch (Henry); R.A. Oldenburg (Rogier); C.J. van Asperen (Christi); N. Hoogerbrugge (Nicoline); G. Pita (Guillermo); P. Devilee (Peter); D. Goldgar (David); J. Benítez (Javier)

    2007-01-01

    textabstractBackground: The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search for new candidate genes involved in heredity diseases. The two major breast cancer susceptibility genes BRCA1 and

  10. Antecedents of hospital admission for deliberate self-harm from a 14-year follow-up study using data-linkage.

    Mitrou, Francis; Gaudie, Jennifer; Lawrence, David; Silburn, Sven R; Stanley, Fiona J; Zubrick, Stephen R

    2010-10-18

    A prior episode of deliberate self-harm (DSH) is one of the strongest predictors of future completed suicide. Identifying antecedents of DSH may inform strategies designed to reduce suicide rates. This study aimed to determine whether individual and socio-ecological factors collected in childhood and adolescence were associated with later hospitalisation for DSH. Longitudinal follow-up of a Western Australian population-wide random sample of 2,736 children aged 4-16 years, and their carers, from 1993 until 2007 using administrative record linkage. Children were aged between 18 and 31 years at end of follow-up. Proportional hazards regression was used to examine the relationship between child, parent, family, school and community factors measured in 1993, and subsequent hospitalisation for DSH. There were six factors measured in 1993 that increased a child's risk of future hospitalisation with DSH: female sex; primary carer being a smoker; being in a step/blended family; having more emotional or behavioural problems than other children; living in a family with inconsistent parenting style; and having a teenage mother. Factors found to be not significant included birth weight, combined carer income, carer's lifetime treatment for a mental health problem, and carer education. The persistence of carer smoking as an independent risk factor for later DSH, after adjusting for child, carer, family, school and community level socio-ecological factors, adds to the known risk domains for DSH, and invites further investigation into the underlying mechanisms of this relationship. This study has also confirmed the association of five previously known risk factors for DSH.

  11. Antecedents of hospital admission for deliberate self-harm from a 14-year follow-up study using data-linkage

    Silburn Sven R

    2010-10-01

    Full Text Available Abstract Background A prior episode of deliberate self-harm (DSH is one of the strongest predictors of future completed suicide. Identifying antecedents of DSH may inform strategies designed to reduce suicide rates. This study aimed to determine whether individual and socio-ecological factors collected in childhood and adolescence were associated with later hospitalisation for DSH. Methods Longitudinal follow-up of a Western Australian population-wide random sample of 2,736 children aged 4-16 years, and their carers, from 1993 until 2007 using administrative record linkage. Children were aged between 18 and 31 years at end of follow-up. Proportional hazards regression was used to examine the relationship between child, parent, family, school and community factors measured in 1993, and subsequent hospitalisation for DSH. Results There were six factors measured in 1993 that increased a child's risk of future hospitalisation with DSH: female sex; primary carer being a smoker; being in a step/blended family; having more emotional or behavioural problems than other children; living in a family with inconsistent parenting style; and having a teenage mother. Factors found to be not significant included birth weight, combined carer income, carer's lifetime treatment for a mental health problem, and carer education. Conclusions The persistence of carer smoking as an independent risk factor for later DSH, after adjusting for child, carer, family, school and community level socio-ecological factors, adds to the known risk domains for DSH, and invites further investigation into the underlying mechanisms of this relationship. This study has also confirmed the association of five previously known risk factors for DSH.

  12. Inequalities in the dental health needs and access to dental services among looked after children in Scotland: a population data linkage study.

    McMahon, Alex D; Elliott, Lawrie; Macpherson, Lorna Md; Sharpe, Katharine H; Connelly, Graham; Milligan, Ian; Wilson, Philip; Clark, David; King, Albert; Wood, Rachael; Conway, David I

    2018-01-01

    There is limited evidence on the health needs and service access among children and young people who are looked after by the state. The aim of this study was to compare dental treatment needs and access to dental services (as an exemplar of wider health and well-being concerns) among children and young people who are looked after with the general child population. Population data linkage study utilising national datasets of social work referrals for 'looked after' placements, the Scottish census of children in local authority schools, and national health service's dental health and service datasets. 633 204 children in publicly funded schools in Scotland during the academic year 2011/2012, of whom 10 927 (1.7%) were known to be looked after during that or a previous year (from 2007-2008). The children in the looked after children (LAC) group were more likely to have urgent dental treatment need at 5 years of age: 23%vs10% (n=209/16533), adjusted (for age, sex and area socioeconomic deprivation) OR 2.65 (95% CI 2.30 to 3.05); were less likely to attend a dentist regularly: 51%vs63% (n=5519/388934), 0.55 (0.53 to 0.58) and more likely to have teeth extracted under general anaesthesia: 9%vs5% (n=967/30253), 1.91 (1.78 to 2.04). LAC are more likely to have dental treatment needs and less likely to access dental services even when accounting for sociodemographic factors. Greater efforts are required to integrate child social and healthcare for LAC and to develop preventive care pathways on entering and throughout their time in the care system. © 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.

  13. Using patients' experiences of adverse events to improve health service delivery and practice: protocol of a data linkage study of Australian adults age 45 and above.

    Walton, Merrilyn; Jorm, Christine; Smith-Merry, Jennifer; Harrison, Reema; Manias, Elizabeth; Iedema, Rick; Kelly, Patrick

    2014-10-13

    Evidence of patients' experiences is fundamental to creating effective health policy and service responses, yet is missing from our knowledge of adverse events. This protocol describes explorative research redressing this significant deficit; investigating the experiences of a large cohort of recently hospitalised patients aged 45 years and above in hospitals in New South Wales (NSW), Australia. The 45 and Up Study is a cohort of 265,000 adults aged 45 years and above in NSW. Patients who were hospitalised between 1 January and 30 June 2014 will be identified from this cohort using data linkage and a random sample of 20,000 invited to participate. A cross-sectional survey (including qualitative and quantitative components) will capture patients' experiences in hospital and specifically of adverse events. Approximately 25% of respondents are likely to report experiencing an adverse event. Quantitative components will capture the nature and type of events as well as common features of patients' experiences. Qualitative data provide contextual knowledge of their condition and care and the impact of the event on individuals. Respondents who do not report an adverse event will report their experience in hospital and be the control group. Statistical and thematic analysis will be used to present a patient perspective of their experiences in hospital; the characteristics of patients experiencing an adverse event; experiences of information sharing after an event (open disclosure) and the other avenues of redress pursued. Interviews with key policymakers and a document analysis will be used to create a map of the current practice. Dissemination via a one-day workshop, peer-reviewed publications and conference presentations will enable effective clinical responses and service provision and policy responses to adverse events to be developed. 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.

  14. Conversion from depression to bipolar disorder in a cohort of young people in England, 1999-2011: A national record linkage study.

    James, Anthony; Wotton, Clare J; Duffy, Anne; Hoang, Uy; Goldacre, Michael

    2015-10-01

    To estimate the conversion rate from unipolar depression (ICD10 codes F32-F33) to bipolar disorder (BP) (ICD10 codes F31) in an English national cohort. It was hypothesised that early-onset BP (age disorder, with a more rapid, and higher rate of conversion from depression to BP. This record linkage study used English national Hospital Episode Statistics (HES) covering all NHS inpatient and day case admissions between 1999 and 2011. The overall rate of conversion from depression to BP for all ages was 5.65% (95% CI: 5.48-5.83) over a minimum 4-year follow-up period. The conversion rate from depression to BP increased in a linear manner with age from 10-14 years - 2.21% (95% C: 1.16-4.22) to 30-34 years - 7.06% (95% CI: 6.44-7.55) (F1,23=77.6, p=0.001, R(2)=0.77). The time to conversion was constant across the age range. The rate of conversion was higher in females (6.77%; 95% CI: 6.53-7.02) compared to males, (4.17%; 95% CI: 3.95-4.40) (χ(2)=194, pconversion rate from depression to bipolar disorder with age, and constant time for conversion across the age range does not support the notion that early-onset BP is a more severe form of the disorder. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. Uptake, Accuracy, Safety, and Linkage into Care over Two Years of Promoting Annual Self-Testing for HIV in Blantyre, Malawi: A Community-Based Prospective Study.

    Augustine T Choko

    2015-09-01

    Full Text Available Home-based HIV testing and counselling (HTC achieves high uptake, but is difficult and expensive to implement and sustain. We investigated a novel alternative based on HIV self-testing (HIVST. The aim was to evaluate the uptake of testing, accuracy, linkage into care, and health outcomes when highly convenient and flexible but supported access to HIVST kits was provided to a well-defined and closely monitored population.Following enumeration of 14 neighbourhoods in urban Blantyre, Malawi, trained resident volunteer-counsellors offered oral HIVST kits (OraQuick ADVANCE Rapid HIV-1/2 Antibody Test to adult (≥16 y old residents (n = 16,660 and reported community events, with all deaths investigated by verbal autopsy. Written and demonstrated instructions, pre- and post-test counselling, and facilitated HIV care assessment were provided, with a request to return kits and a self-completed questionnaire. Accuracy, residency, and a study-imposed requirement to limit HIVST to one test per year were monitored by home visits in a systematic quality assurance (QA sample. Overall, 14,004 (crude uptake 83.8%, revised to 76.5% to account for population turnover residents self-tested during months 1-12, with adolescents (16-19 y most likely to test. 10,614/14,004 (75.8% participants shared results with volunteer-counsellors. Of 1,257 (11.8% HIV-positive participants, 26.0% were already on antiretroviral therapy, and 524 (linkage 56.3% newly accessed care with a median CD4 count of 250 cells/μl (interquartile range 159-426. HIVST uptake in months 13-24 was more rapid (70.9% uptake by 6 mo, with fewer (7.3%, 95% CI 6.8%-7.8% positive participants. Being "forced to test", usually by a main partner, was reported by 2.9% (95% CI 2.6%-3.2% of 10,017 questionnaire respondents in months 1-12, but satisfaction with HIVST (94.4% remained high. No HIVST-related partner violence or suicides were reported. HIVST and repeat HTC results agreed in 1

  16. Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.

    Kristy R Crooks

    Full Text Available Primary open-angle glaucoma (POAG is the most common form of glaucoma and one of the leading causes of vision loss worldwide. The genetic etiology of POAG is complex and poorly understood. The purpose of this work is to identify genomic regions of interest linked to POAG. This study is the largest genetic linkage study of POAG performed to date: genomic DNA samples from 786 subjects (538 Caucasian ancestry, 248 African ancestry were genotyped using either the Illumina GoldenGate Linkage 4 Panel or the Illumina Infinium Human Linkage-12 Panel. A total of 5233 SNPs was analyzed in 134 multiplex POAG families (89 Caucasian ancestry, 45 African ancestry. Parametric and non-parametric linkage analyses were performed on the overall dataset and within race-specific datasets (Caucasian ancestry and African ancestry. Ordered subset analysis was used to stratify the data on the basis of age of glaucoma diagnosis. Novel linkage regions were identified on chromosomes 1 and 20, and two previously described loci-GLC1D on chromosome 8 and GLC1I on chromosome 15--were replicated. These data will prove valuable in the context of interpreting results from genome-wide association studies for POAG.

  17. Linkage mechanisms in the vertebrate skull: Structure and function of three-dimensional, parallel transmission systems.

    Olsen, Aaron M; Westneat, Mark W

    2016-12-01

    Many musculoskeletal systems, including the skulls of birds, fishes, and some lizards consist of interconnected chains of mobile skeletal elements, analogous to linkage mechanisms used in engineering. Biomechanical studies have applied linkage models to a diversity of musculoskeletal systems, with previous applications primarily focusing on two-dimensional linkage geometries, bilaterally symmetrical pairs of planar linkages, or single four-bar linkages. Here, we present new, three-dimensional (3D), parallel linkage models of the skulls of birds and fishes and use these models (available as free kinematic simulation software), to investigate structure-function relationships in these systems. This new computational framework provides an accessible and integrated workflow for exploring the evolution of structure and function in complex musculoskeletal systems. Linkage simulations show that kinematic transmission, although a suitable functional metric for linkages with single rotating input and output links, can give misleading results when applied to linkages with substantial translational components or multiple output links. To take into account both linear and rotational displacement we define force mechanical advantage for a linkage (analogous to lever mechanical advantage) and apply this metric to measure transmission efficiency in the bird cranial mechanism. For linkages with multiple, expanding output points we propose a new functional metric, expansion advantage, to measure expansion amplification and apply this metric to the buccal expansion mechanism in fishes. Using the bird cranial linkage model, we quantify the inaccuracies that result from simplifying a 3D geometry into two dimensions. We also show that by combining single-chain linkages into parallel linkages, more links can be simulated while decreasing or maintaining the same number of input parameters. This generalized framework for linkage simulation and analysis can accommodate linkages of differing

  18. Mapping organizational linkages in the agricultural innovation system of Azerbaijan

    Temel, T.

    2004-01-01

    This study describes the evolving context and organisational linkages in the agricultural innovation system of Azerbaijan and suggests ways to promote effective organisational ties for the development, distribution and use of new or improved information and knowledge related to agriculture.

  19. Linkage disequilibrium in wild mice.

    Cathy C Laurie

    2007-08-01

    Full Text Available Crosses between laboratory strains of mice provide a powerful way of detecting quantitative trait loci for complex traits related to human disease. Hundreds of these loci have been detected, but only a small number of the underlying causative genes have been identified. The main difficulty is the extensive linkage disequilibrium (LD in intercross progeny and the slow process of fine-scale mapping by traditional methods. Recently, new approaches have been introduced, such as association studies with inbred lines and multigenerational crosses. These approaches are very useful for interval reduction, but generally do not provide single-gene resolution because of strong LD extending over one to several megabases. Here, we investigate the genetic structure of a natural population of mice in Arizona to determine its suitability for fine-scale LD mapping and association studies. There are three main findings: (1 Arizona mice have a high level of genetic variation, which includes a large fraction of the sequence variation present in classical strains of laboratory mice; (2 they show clear evidence of local inbreeding but appear to lack stable population structure across the study area; and (3 LD decays with distance at a rate similar to human populations, which is considerably more rapid than in laboratory populations of mice. Strong associations in Arizona mice are limited primarily to markers less than 100 kb apart, which provides the possibility of fine-scale association mapping at the level of one or a few genes. Although other considerations, such as sample size requirements and marker discovery, are serious issues in the implementation of association studies, the genetic variation and LD results indicate that wild mice could provide a useful tool for identifying genes that cause variation in complex traits.

  20. SNP identification from RNA sequencing and linkage map construction of rubber tree for anchoring the draft genome.

    Shearman, Jeremy R; Sangsrakru, Duangjai; Jomchai, Nukoon; Ruang-Areerate, Panthita; Sonthirod, Chutima; Naktang, Chaiwat; Theerawattanasuk, Kanikar; Tragoonrung, Somvong; Tangphatsornruang, Sithichoke

    2015-01-01

    Hevea brasiliensis, or rubber tree, is an important crop species that accounts for the majority of natural latex production. The rubber tree nuclear genome consists of 18 chromosomes and is roughly 2.15 Gb. The current rubber tree reference genome assembly consists of 1,150,326 scaffolds ranging from 200 to 531,465 bp and totalling 1.1 Gb. Only 143 scaffolds, totalling 7.6 Mb, have been placed into linkage groups. We have performed RNA-seq on 6 varieties of rubber tree to identify SNPs and InDels and used this information to perform target sequence enrichment and high throughput sequencing to genotype a set of SNPs in 149 rubber tree offspring from a cross between RRIM 600 and RRII 105 rubber tree varieties. We used this information to generate a linkage map allowing for the anchoring of 24,424 contigs from 3,009 scaffolds, totalling 115 Mb or 10.4% of the published sequence, into 18 linkage groups. Each linkage group contains between 319 and 1367 SNPs, or 60 to 194 non-redundant marker positions, and ranges from 156 to 336 cM in length. This linkage map includes 20,143 of the 69,300 predicted genes from rubber tree and will be useful for mapping studies and improving the reference genome assembly.

  1. High-Yield HIV Testing, Facilitated Linkage to Care, and Prevention for Female Youth in Kenya (GIRLS Study): Implementation Science Protocol for a Priority Population.

    Inwani, Irene; Chhun, Nok; Agot, Kawango; Cleland, Charles M; Buttolph, Jasmine; Thirumurthy, Harsha; Kurth, Ann E

    2017-12-13

    Sub-Saharan Africa is the region with the highest HIV burden. Adolescent girls and young women (AGYW) in the age range of 15 to 24 years are twice as likely as their male peers to be infected, making females in sub-Saharan Africa the most at-risk group for HIV infection. It is therefore critical to prioritize access to HIV testing, prevention, and treatment for this vulnerable population. Using an implementation science framework, the purpose of this research protocol was to describe the approaches we propose to optimize engagement of AGYW in both the HIV prevention and care continuum and to determine the recruitment and testing strategies that identify the highest proportion of previously undiagnosed HIV infections. We will compare two seek recruitment strategies, three test strategies, and pilot adaptive linkage to care interventions (sequential multiple assignment randomized trial [SMART] design) among AGYW in the age range of 15 to 24 years in Homa Bay County, western Kenya. AGYW will be recruited in the home or community-based setting and offered three testing options: oral fluid HIV self-testing, staff-aided rapid HIV testing, or referral to a health care facility for standard HIV testing services. Newly diagnosed AGYW with HIV will be enrolled in the SMART trial pilot to determine the most effective way to support initial linkage to care after a positive diagnosis. They will be randomized to standard referral (counseling and a referral note) or standard referral plus SMS text message (short message service, SMS); those not linked to care within 2 weeks will be rerandomized to receive an additional SMS text message or a one-time financial incentive (approximately US $4). We will also evaluate a primary prevention messaging intervention to support identified high-risk HIV-negative AGYW to reduce their HIV risk and adhere to HIV retesting recommendations. We will also conduct analyses to determine the incremental cost-effectiveness of the seek, testing and

  2. An exploratory study to examine intentions to adopt an evidence-based HIV linkage-to-care intervention among state health department AIDS directors in the United States

    Norton Wynne E

    2012-04-01

    Full Text Available Abstract Background Widespread dissemination and implementation of evidence-based human immunodeficiency virus (HIV linkage-to-care (LTC interventions is essential for improving HIV-positive patients' health outcomes and reducing transmission to uninfected others. To date, however, little work has focused on identifying factors associated with intentions to adopt LTC interventions among policy makers, including city, state, and territory health department AIDS directors who play a critical role in deciding whether an intervention is endorsed, distributed, and/or funded throughout their region. Methods Between December 2010 and February 2011, we administered an online questionnaire with state, territory, and city health department AIDS directors throughout the United States to identify factors associated with intentions to adopt an LTC intervention. Guided by pertinent theoretical frameworks, including the Diffusion of Innovations and the "push-pull" capacity model, we assessed participants' attitudes towards the intervention, perceived organizational and contextual demand and support for the intervention, likelihood of adoption given endorsement from stakeholder groups (e.g., academic researchers, federal agencies, activist organizations, and likelihood of enabling future dissemination efforts by recommending the intervention to other health departments and community-based organizations. Results Forty-four participants (67% of the eligible sample completed the online questionnaire. Approximately one-third (34.9% reported that they intended to adopt the LTC intervention for use in their city, state, or territory in the future. Consistent with prior, related work, these participants were classified as LTC intervention "adopters" and were compared to "nonadopters" for data analysis. Overall, adopters reported more positive attitudes and greater perceived demand and support for the intervention than did nonadopters. Further, participants varied with

  3. An exploratory study to examine intentions to adopt an evidence-based HIV linkage-to-care intervention among state health department AIDS directors in the United States.

    Norton, Wynne E

    2012-04-02

    Widespread dissemination and implementation of evidence-based human immunodeficiency virus (HIV) linkage-to-care (LTC) interventions is essential for improving HIV-positive patients' health outcomes and reducing transmission to uninfected others. To date, however, little work has focused on identifying factors associated with intentions to adopt LTC interventions among policy makers, including city, state, and territory health department AIDS directors who play a critical role in deciding whether an intervention is endorsed, distributed, and/or funded throughout their region. Between December 2010 and February 2011, we administered an online questionnaire with state, territory, and city health department AIDS directors throughout the United States to identify factors associated with intentions to adopt an LTC intervention. Guided by pertinent theoretical frameworks, including the Diffusion of Innovations and the "push-pull" capacity model, we assessed participants' attitudes towards the intervention, perceived organizational and contextual demand and support for the intervention, likelihood of adoption given endorsement from stakeholder groups (e.g., academic researchers, federal agencies, activist organizations), and likelihood of enabling future dissemination efforts by recommending the intervention to other health departments and community-based organizations. Forty-four participants (67% of the eligible sample) completed the online questionnaire. Approximately one-third (34.9%) reported that they intended to adopt the LTC intervention for use in their city, state, or territory in the future. Consistent with prior, related work, these participants were classified as LTC intervention "adopters" and were compared to "nonadopters" for data analysis. Overall, adopters reported more positive attitudes and greater perceived demand and support for the intervention than did nonadopters. Further, participants varied with their intention to adopt the LTC intervention in

  4. Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q

    Velculescu Victor E

    2008-04-01

    Full Text Available Abstract Background Colorectal cancer is one of the most common causes of cancer-related mortality. The disease is clinically and genetically heterogeneous though a strong hereditary component has been identified. However, only a small proportion of the inherited susceptibility can be ascribed to dominant syndromes, such as Hereditary Non-Polyposis Colorectal Cancer (HNPCC or Familial Adenomatous Polyposis (FAP. In an attempt to identify novel colorectal cancer predisposing genes, we have performed a genome-wide linkage analysis in 30 Swedish non-FAP/non-HNPCC families with a strong family history of colorectal cancer. Methods Statistical analysis was performed using multipoint parametric and nonparametric linkage. Results Parametric analysis under the assumption of locus homogeneity excluded any common susceptibility regions harbouring a predisposing gene for colorectal cancer. However, several loci on chromosomes 2q, 3q, 6q, and 7q with suggestive linkage were detected in the parametric analysis under the assumption of locus heterogeneity as well as in the nonparametric analysis. Among these loci, the locus on chromosome 3q21.1-q26.2 was the most consistent finding providing positive results in both parametric and nonparametric analyses Heterogeneity LOD score (HLOD = 1.90, alpha = 0.45, Non-Parametric LOD score (NPL = 2.1. Conclusion The strongest evidence of linkage was seen for the region on chromosome 3. Interestingly, the same region has recently been reported as the most significant finding in a genome-wide analysis performed with SNP arrays; thus our results independently support the finding on chromosome 3q.

  5. A randomised controlled trial to compare opt-in and opt-out parental consent for childhood vaccine safety surveillance using data linkage: study protocol

    Berry, Jesia G; Ryan, Philip; Braunack-Mayer, Annette J; Duszynski, Katherine M; Xafis, Vicki; Gold, Michael S

    2011-01-01

    Abstract Background The Vaccine Assessment using Linked Data (VALiD) trial compared opt-in and opt-out parental consent for a population-based childhood vaccine safety surveillance program using data linkage. A subsequent telephone interview of all households enrolled in the trial elicited parental intent regarding the return or non-return of reply forms for opt-in and opt-out consent. This paper describes the rationale for the trial and provides an overview of the design and methods. Methods...

  6. Efficient Record Linkage Algorithms Using Complete Linkage Clustering.

    Mamun, Abdullah-Al; Aseltine, Robert; Rajasekaran, Sanguthevar

    2016-01-01

    Data from different agencies share data of the same individuals. Linking these datasets to identify all the records belonging to the same individuals is a crucial and challenging problem, especially given the large volumes of data. A large number of available algorithms for record linkage are prone to either time inefficiency or low-accuracy in finding matches and non-matches among the records. In this paper we propose efficient as well as reliable sequential and parallel algorithms for the record linkage problem employing hierarchical clustering methods. We employ complete linkage hierarchical clustering algorithms to address this problem. In addition to hierarchical clustering, we also use two other techniques: elimination of duplicate records and blocking. Our algorithms use sorting as a sub-routine to identify identical copies of records. We have tested our algorithms on datasets with millions of synthetic records. Experimental results show that our algorithms achieve nearly 100% accuracy. Parallel implementations achieve almost linear speedups. Time complexities of these algorithms do not exceed those of previous best-known algorithms. Our proposed algorithms outperform previous best-known algorithms in terms of accuracy consuming reasonable run times.

  7. Allele-sharing models: LOD scores and accurate linkage tests.

    Kong, A; Cox, N J

    1997-11-01

    Starting with a test statistic for linkage analysis based on allele sharing, we propose an associated one-parameter model. Under general missing-data patterns, this model allows exact calculation of likelihood ratios and LOD scores and has been implemented by a simple modification of existing software. Most important, accurate linkage tests can be performed. Using an example, we show that some previously suggested approaches to handling less than perfectly informative data can be unacceptably conservative. Situations in which this model may not perform well are discussed, and an alternative model that requires additional computations is suggested.

  8. Effects of cooking on the cell walls (dietary fiber) of 'Scarlet Warren' winter squash ( Cucurbita maxima ) studied by polysaccharide linkage analysis and solid-state (13)C NMR.

    Ratnayake, R M Sunil; Sims, Ian M; Newman, Roger H; Melton, Laurence D

    2011-07-13

    Cell wall polysaccharides of 'Scarlet Warren' winter squash ( Cucurbita maxima ) were investigated before and after thermal processing. Linkage analysis of polysaccharides was done by gas chromatography coupled to mass spectrometry (GC-MS). The linkage analysis showed the cell wall polysaccharide compositions of raw and cooked squash were similar. The total pectic polysaccharides (galacturonan, rhamnogalacturonan, arabinan, and arabinogalactan) contents of the cell walls of both raw and cooked squash were 39 mol %. The amounts of pectic polysaccharides and xyloglucan in the cell walls of squash showed little alteration on heating. The cellulose content of the raw and cooked cell walls was relatively high at 47 mol %, whereas the xyloglucan content was low at 4 mol %. Solid-state (13)C nuclear magnetic resonance (NMR) spectroscopy techniques were used to examine the molecular motion of the polysaccharides in the cell walls. The mobility of highly flexible galactan depends on the water content of the sample, but no difference was seen between raw and cooked samples. Likewise, the mobility of semimobile pectic polysaccharides was apparently unaltered by cooking. No change was detected in the rigid cellulose microfibrils on cooking.

  9. Liquid droplet radiator performance studies

    Mattick, A. T.; Hertzberg, A.

    By making use of droplets rather than solid surfaces to radiate waste heat in space, the liquid droplet radiator (LDR) achieves a radiating area/mass much larger than that of conventional radiators which use fins or heat pipes. The lightweight potential of the LDR is shown to be limited primarily by the radiative properties of the droplets. The requirement that the LDR heat transfer fluid have a very low vapor pressure limits the choice of fluids to relatively few—several liquid metals and Dow 705 silicone fluid are the only suitable candidates so far identified. An experimental determination of the emittance of submillimeter droplets of Dow 705 fluid indicates than an LDR using this fluid at temperatures of 275-335 K would be ⋍ 10 times lighter than the lightest solid surface radiators. Although several liquid metals appear to offer excellent performance in LDR applications at temperatures between 200 K and 975 K, experimental determination of liquid metal emissivities is needed for a conclusive assessment.

  10. Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

    Tamayo, M L; Lopez, G; Gelvez, N; Medina, D; Kimberling, W J; Rodríguez, V; Tamayo, G E; Bernal, J E

    2008-01-01

    Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are three recognized clinical types of the disorder. In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA sequencing in 10 Colombian families with confirmed diagnosis of US (4 type I and 6 type II). Seventy-five percent of the US1 families showed linkage to locus USH1B, while the remaining 25% showed linkage to loci USH1B and USH1C. Among families showing linkage to USH1B we found two different mutations in the MYO7A gene: IVS42-26insTTGAG in exon 43 (heterozygous state) and R634X (CGA-TGA) in exon 16 (homozygous state). All six US2 families showed linkage to locus USH2A. Of them, 4 had c.2299delG mutation (1 homozygote state and 3 heterozygous); in the remaining 2 we did not identify any pathologic DNA variant. USH2A individuals with a 2299delG mutation presented a typical and homogeneous retinal phenotype with bilateral severe hearing loss, except for one individual with a heterozygous 2299delG mutation, whose hearing loss was asymmetric, but more profound than in the other cases. The study of these families adds to the genotype-phenotype characterization of the different types and subtypes of US and facilitates genetic counseling in these families. We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families.

  11. Is a gene important for bone resorption a candidate for obesity? An association and linkage study on the RANK (receptor activator of nuclear factor-kappaB) gene in a large Caucasian sample.

    Zhao, Lan-Juan; Guo, Yan-Fang; Xiong, Dong-Hai; Xiao, Peng; Recker, Robert R; Deng, Hong-Wen

    2006-11-01

    In light of findings that osteoporosis and obesity may share some common genetic determination and previous reports that RANK (receptor activator of nuclear factor-kappaB) is expressed in skeletal muscles which are important for energy metabolism, we hypothesize that RANK, a gene essential for osteoclastogenesis, is also important for obesity. In order to test the hypothesis with solid data we first performed a linkage analysis around the RANK gene in 4,102 Caucasian subjects from 434 pedigrees, then we genotyped 19 SNPs in or around the RANK gene. A family-based association test (FBAT) was performed with both a quantitative measure of obesity [fat mass, lean mass, body mass index (BMI), and percentage fat mass (PFM)] and a dichotomously defined obesity phenotype-OB (OB if BMI > or = 30 kg/m(2)). In the linkage analysis, an empirical P = 0.004 was achieved at the location of the RANK gene for BMI. Family-based association analysis revealed significant associations of eight SNPs with at least one obesity-related phenotype (P obesity phenotype. The P value is 0.126 for OB, 0.033 for fat mass, 0.021 for lean mass, 0.016 for BMI, and 0.006 for PFM. The haplotype data analyses provide further association evidence. In conclusion, for the first time, our results suggest that RANK is a novel candidate for determination of obesity.

  12. Privacy preserving interactive record linkage (PPIRL).

    Kum, Hye-Chung; Krishnamurthy, Ashok; Machanavajjhala, Ashwin; Reiter, Michael K; Ahalt, Stanley

    2014-01-01

    Record linkage to integrate uncoordinated databases is critical in biomedical research using Big Data. Balancing privacy protection against the need for high quality record linkage requires a human-machine hybrid system to safely manage uncertainty in the ever changing streams of chaotic Big Data. In the computer science literature, private record linkage is the most published area. It investigates how to apply a known linkage function safely when linking two tables. However, in practice, the linkage function is rarely known. Thus, there are many data linkage centers whose main role is to be the trusted third party to determine the linkage function manually and link data for research via a master population list for a designated region. Recently, a more flexible computerized third-party linkage platform, Secure Decoupled Linkage (SDLink), has been proposed based on: (1) decoupling data via encryption, (2) obfuscation via chaffing (adding fake data) and universe manipulation; and (3) minimum information disclosure via recoding. We synthesize this literature to formalize a new framework for privacy preserving interactive record linkage (PPIRL) with tractable privacy and utility properties and then analyze the literature using this framework. Human-based third-party linkage centers for privacy preserving record linkage are the accepted norm internationally. We find that a computer-based third-party platform that can precisely control the information disclosed at the micro level and allow frequent human interaction during the linkage process, is an effective human-machine hybrid system that significantly improves on the linkage center model both in terms of privacy and utility.

  13. Rheumatic Heart Disease-Attributable Mortality at Ages 5-69 Years in Fiji: A Five-Year, National, Population-Based Record-Linkage Cohort Study.

    Parks, Tom; Kado, Joseph; Miller, Anne E; Ward, Brenton; Heenan, Rachel; Colquhoun, Samantha M; Bärnighausen, Till W; Mirabel, Mariana; Bloom, David E; Bailey, Robin L; Tukana, Isimeli N; Steer, Andrew C

    2015-01-01

    Rheumatic heart disease (RHD) is considered a major public health problem in developing countries, although scarce data are available to substantiate this. Here we quantify mortality from RHD in Fiji during 2008-2012 in people aged 5-69 years. Using 1,773,999 records derived from multiple sources of routine clinical and administrative data, we used probabilistic record-linkage to define a cohort of 2,619 persons diagnosed with RHD, observed for all-cause mortality over 11,538 person-years. Using relative survival methods, we estimated there were 378 RHD-attributable deaths, almost half of which occurred before age 40 years. Using census data as the denominator, we calculated there were 9.9 deaths (95% CI 9.8-10.0) and 331 years of life-lost (YLL, 95% CI 330.4-331.5) due to RHD per 100,000 person-years, standardised to the portion of the WHO World Standard Population aged 0-69 years. Valuing life using Fiji's per-capita gross domestic product, we estimated these deaths cost United States Dollar $6,077,431 annually. Compared to vital registration data for 2011-2012, we calculated there were 1.6-times more RHD-attributable deaths than the number reported, and found our estimate of RHD mortality exceeded all but the five leading reported causes of premature death, based on collapsed underlying cause-of-death diagnoses. Rheumatic heart disease is a leading cause of premature death as well as an important economic burden in this setting. Age-standardised death rates are more than twice those reported in current global estimates. Linkage of routine data provides an efficient tool to better define the epidemiology of neglected diseases.

  14. Rheumatic Heart Disease-Attributable Mortality at Ages 5–69 Years in Fiji: A Five-Year, National, Population-Based Record-Linkage Cohort Study

    Parks, Tom; Kado, Joseph; Miller, Anne E.; Ward, Brenton; Heenan, Rachel; Colquhoun, Samantha M.; Bärnighausen, Till W.; Mirabel, Mariana; Bloom, David E.; Bailey, Robin L.; Tukana, Isimeli N.; Steer, Andrew C.

    2015-01-01

    Background Rheumatic heart disease (RHD) is considered a major public health problem in developing countries, although scarce data are available to substantiate this. Here we quantify mortality from RHD in Fiji during 2008–2012 in people aged 5–69 years. Methods and Findings Using 1,773,999 records derived from multiple sources of routine clinical and administrative data, we used probabilistic record-linkage to define a cohort of 2,619 persons diagnosed with RHD, observed for all-cause mortality over 11,538 person-years. Using relative survival methods, we estimated there were 378 RHD-attributable deaths, almost half of which occurred before age 40 years. Using census data as the denominator, we calculated there were 9.9 deaths (95% CI 9.8–10.0) and 331 years of life-lost (YLL, 95% CI 330.4–331.5) due to RHD per 100,000 person-years, standardised to the portion of the WHO World Standard Population aged 0–69 years. Valuing life using Fiji’s per-capita gross domestic product, we estimated these deaths cost United States Dollar $6,077,431 annually. Compared to vital registration data for 2011–2012, we calculated there were 1.6-times more RHD-attributable deaths than the number reported, and found our estimate of RHD mortality exceeded all but the five leading reported causes of premature death, based on collapsed underlying cause-of-death diagnoses. Conclusions Rheumatic heart disease is a leading cause of premature death as well as an important economic burden in this setting. Age-standardised death rates are more than twice those reported in current global estimates. Linkage of routine data provides an efficient tool to better define the epidemiology of neglected diseases. PMID:26371755

  15. Rheumatic Heart Disease-Attributable Mortality at Ages 5-69 Years in Fiji: A Five-Year, National, Population-Based Record-Linkage Cohort Study.

    Tom Parks

    Full Text Available Rheumatic heart disease (RHD is considered a major public health problem in developing countries, although scarce data are available to substantiate this. Here we quantify mortality from RHD in Fiji during 2008-2012 in people aged 5-69 years.Using 1,773,999 records derived from multiple sources of routine clinical and administrative data, we used probabilistic record-linkage to define a cohort of 2,619 persons diagnosed with RHD, observed for all-cause mortality over 11,538 person-years. Using relative survival methods, we estimated there were 378 RHD-attributable deaths, almost half of which occurred before age 40 years. Using census data as the denominator, we calculated there were 9.9 deaths (95% CI 9.8-10.0 and 331 years of life-lost (YLL, 95% CI 330.4-331.5 due to RHD per 100,000 person-years, standardised to the portion of the WHO World Standard Population aged 0-69 years. Valuing life using Fiji's per-capita gross domestic product, we estimated these deaths cost United States Dollar $6,077,431 annually. Compared to vital registration data for 2011-2012, we calculated there were 1.6-times more RHD-attributable deaths than the number reported, and found our estimate of RHD mortality exceeded all but the five leading reported causes of premature death, based on collapsed underlying cause-of-death diagnoses.Rheumatic heart disease is a leading cause of premature death as well as an important economic burden in this setting. Age-standardised death rates are more than twice those reported in current global estimates. Linkage of routine data provides an efficient tool to better define the epidemiology of neglected diseases.

  16. A Dense Brown Trout (Salmo trutta) Linkage Map Reveals Recent Chromosomal Rearrangements in the Salmo Genus and the Impact of Selection on Linked Neutral Diversity

    Leitwein, Maeva; Guinand, Bruno; Pouzadoux, Juliette; Desmarais, Erick; Berrebi, Patrick; Gagnaire, Pierre-Alexandre

    2017-01-01

    High-density linkage maps are valuable tools for conservation and eco-evolutionary issues. In salmonids, a complex rediploidization process consecutive to an ancient whole genome duplication event makes linkage maps of prime importance for investigating the evolutionary history of chromosome rearrangements. Here, we developed a high-density consensus linkage map for the brown trout (Salmo trutta), a socioeconomically important species heavily impacted by human activities. A total of 3977 ddRAD markers were mapped and ordered in 40 linkage groups using sex- and lineage-averaged recombination distances obtained from two family crosses. Performing map comparison between S. trutta and its sister species, S. salar, revealed extensive chromosomal rearrangements. Strikingly, all of the fusion and fission events that occurred after the S. salar/S. trutta speciation happened in the Atlantic salmon branch, whereas the brown trout remained closer to the ancestral chromosome structure. Using the strongly conserved synteny within chromosome arms, we aligned the brown trout linkage map to the Atlantic salmon genome sequence to estimate the local recombination rate in S. trutta at 3721 loci. A significant positive correlation between recombination rate and within-population nucleotide diversity (π) was found, indicating that selection constrains variation at linked neutral sites in brown trout. This new high-density linkage map provides a useful genomic resource for future aquaculture, conservation, and eco-evolutionary studies in brown trout. PMID:28235829

  17. A Dense Brown Trout (Salmo trutta Linkage Map Reveals Recent Chromosomal Rearrangements in the Salmo Genus and the Impact of Selection on Linked Neutral Diversity

    Maeva Leitwein

    2017-04-01

    Full Text Available High-density linkage maps are valuable tools for conservation and eco-evolutionary issues. In salmonids, a complex rediploidization process consecutive to an ancient whole genome duplication event makes linkage maps of prime importance for investigating the evolutionary history of chromosome rearrangements. Here, we developed a high-density consensus linkage map for the brown trout (Salmo trutta, a socioeconomically important species heavily impacted by human activities. A total of 3977 ddRAD markers were mapped and ordered in 40 linkage groups using sex- and lineage-averaged recombination distances obtained from two family crosses. Performing map comparison between S. trutta and its sister species, S. salar, revealed extensive chromosomal rearrangements. Strikingly, all of the fusion and fission events that occurred after the S. salar/S. trutta speciation happened in the Atlantic salmon branch, whereas the brown trout remained closer to the ancestral chromosome structure. Using the strongly conserved synteny within chromosome arms, we aligned the brown trout linkage map to the Atlantic salmon genome sequence to estimate the local recombination rate in S. trutta at 3721 loci. A significant positive correlation between recombination rate and within-population nucleotide diversity (π was found, indicating that selection constrains variation at linked neutral sites in brown trout. This new high-density linkage map provides a useful genomic resource for future aquaculture, conservation, and eco-evolutionary studies in brown trout.

  18. Genomewide Linkage Screen for Waldenström Macroglobulinemia Susceptibility Loci in High-Risk Families

    McMaster, Mary L.; Goldin, Lynn R.; Bai, Yan; Ter-Minassian, Monica; Boehringer, Stefan; Giambarresi, Therese R.; Vasquez, Linda G.; Tucker, Margaret A.

    2006-01-01

    Waldenström macroglobulinemia (WM), a distinctive subtype of non-Hodgkin lymphoma that features overproduction of immunoglobulin M (IgM), clearly has a familial component; however, no susceptibility genes have yet been identified. We performed a genomewide linkage analysis in 11 high-risk families with WM that were informative for linkage, for a total of 122 individuals with DNA samples, including 34 patients with WM and 10 patients with IgM monoclonal gammopathy of undetermined significance (IgM MGUS). We genotyped 1,058 microsatellite markers (average spacing 3.5 cM), performed both nonparametric and parametric linkage analysis, and computed both two-point and multipoint linkage statistics. The strongest evidence of linkage was found on chromosomes 1q and 4q when patients with WM and with IgM MGUS were both considered affected; nonparametric linkage scores were 2.5 (P=.0089) and 3.1 (P=.004), respectively. Other locations suggestive of linkage were found on chromosomes 3 and 6. Results of two-locus linkage analysis were consistent with independent effects. The findings from this first linkage analysis of families at high risk for WM represent important progress toward identifying gene(s) that modulate susceptibility to WM and toward understanding its complex etiology. PMID:16960805

  19. Linkage of PRA models. Phase 1, Results

    Smith, C.L.; Knudsen, J.K.; Kelly, D.L.

    1995-12-01

    The goal of the Phase I work of the ``Linkage of PRA Models`` project was to postulate methods of providing guidance for US Nuclear Regulator Commission (NRC) personnel on the selection and usage of probabilistic risk assessment (PRA) models that are best suited to the analysis they are performing. In particular, methods and associated features are provided for (a) the selection of an appropriate PRA model for a particular analysis, (b) complementary evaluation tools for the analysis, and (c) a PRA model cross-referencing method. As part of this work, three areas adjoining ``linking`` analyses to PRA models were investigated: (a) the PRA models that are currently available, (b) the various types of analyses that are performed within the NRC, and (c) the difficulty in trying to provide a ``generic`` classification scheme to groups plants based upon a particular plant attribute.

  20. Linkage of PRA models. Phase 1, Results

    Smith, C.L.; Knudsen, J.K.; Kelly, D.L.

    1995-12-01

    The goal of the Phase I work of the ''Linkage of PRA Models'' project was to postulate methods of providing guidance for US Nuclear Regulator Commission (NRC) personnel on the selection and usage of probabilistic risk assessment (PRA) models that are best suited to the analysis they are performing. In particular, methods and associated features are provided for (a) the selection of an appropriate PRA model for a particular analysis, (b) complementary evaluation tools for the analysis, and (c) a PRA model cross-referencing method. As part of this work, three areas adjoining ''linking'' analyses to PRA models were investigated: (a) the PRA models that are currently available, (b) the various types of analyses that are performed within the NRC, and (c) the difficulty in trying to provide a ''generic'' classification scheme to groups plants based upon a particular plant attribute

  1. A literature review of record linkage procedures focusing on infant health outcomes

    Carla Jorge Machado

    Full Text Available Record linkage is a powerful tool in assembling information from different data sources and has been used by a number of public health researchers. In this review, we provide an overview of the record linkage methodologies, focusing particularly on probabilistic record linkage. We then stress the purposes and research applications of linking records by focusing on studies of infant health outcomes based on large data sets, and provide a critical review of the studies in Brazil.

  2. Investigating the Evolution of Linkage Dynamics among Equity Markets Using Network Models and Measures: The Case of Asian Equity Market Integration

    Biplab Bhattacharjee

    2017-12-01

    Full Text Available The state of cross-market linkage structures and its stability over varying time-periods play a key role in the performance of international diversified portfolios. There has been an increasing interest of global investors in emerging capital markets in the Asian region. In this setting, an investigation into the temporal dynamics of cross-market linkage structures becomes significant for the selection and optimal allocation of securities in an internationally-diversified portfolio. In the quest for this, in the current study, weighted network models along with network metrics are employed to decipher the underlying cross-market linkage structures among Asian markets. The study analyses the daily return data of fourteen major Asian indices for a period of 14 years (2002–2016. The topological properties of the network are computed using centrality measures and measures of influence strength and are investigated over temporal scales. In particular, the overall influence strengths and India-specific influence strengths are computed and examined over a temporal scale. Threshold filtering is also performed to characterize the dynamics related to the linkage structure of these networks. The impacts of the 2008 financial crisis on the linkage structural patterns of these equity networks are also investigated. The key findings of this study include: a set of central and peripheral indices, the evolution of the linkage structures over the 2002–2016 period and the linkage dynamics during times of market stress. Mainly, the set of indices possessing influence over the Asian region in general and the Indian market in particular is also identified. The findings of this study can be utilized in effective systemic risk management and for the selection of an optimally-diversified portfolio, resilient to system-level shocks.

  3. Linkage of biomolecules to solid phases for immunoassay

    Chapman, R.S.

    1998-01-01

    Topics covered by this lecture include a brief review of the principal methods of linkage of biomolecules to solid phase matrices. Copies of the key self explanatory slides are presented as figures together with reprints of two publications by the author dealing with a preferred chemistry for the covalent linkage of antibodies to hydroxyl and amino functional groups and the effects of changes in solid phase matrix and antibody coupling chemistry on the performance of a typical excess reagent immunoassay for thyroid stimulating hormone

  4. Genome-Wide Linkage Analysis of Hemodynamic Parameters Under Mental and Physical Stress in Extended Omani Arab Pedigrees : The Oman Family Study

    Hassan, Mohammed O.; Jaju, Deepali; Voruganti, V. Saroja; Bayoumi, Riad A.; Albarwani, Sulayma; Al-Yahyaee, Saeed; Aslani, Afshin; Snieder, Harold; Lopez-Alvarenga, Juan C.; Al-Anqoudi, Zahir M.; Alizadeh, Behrooz Z.; Comuzzie, Anthony G.

    Background: We performed a genome-wide scan in a homogeneous Arab population to identify genomic regions linked to blood pressure (BP) and its intermediate phenotypes during mental and physical stress tests. Methods: The Oman Family Study subjects (N = 1277) were recruited from five extended

  5. Privacy preserving probabilistic record linkage (P3RL): a novel method for linking existing health-related data and maintaining participant confidentiality.

    Schmidlin, Kurt; Clough-Gorr, Kerri M; Spoerri, Adrian

    2015-05-30

    Record linkage of existing individual health care data is an efficient way to answer important epidemiological research questions. Reuse of individual health-related data faces several problems: Either a unique personal identifier, like social security number, is not available or non-unique person identifiable information, like names, are privacy protected and cannot be accessed. A solution to protect privacy in probabilistic record linkages is to encrypt these sensitive information. Unfortunately, encrypted hash codes of two names differ completely if the plain names differ only by a single character. Therefore, standard encryption methods cannot be applied. To overcome these challenges, we developed the Privacy Preserving Probabilistic Record Linkage (P3RL) method. In this Privacy Preserving Probabilistic Record Linkage method we apply a three-party protocol, with two sites collecting individual data and an independent trusted linkage center as the third partner. Our method consists of three main steps: pre-processing, encryption and probabilistic record linkage. Data pre-processing and encryption are done at the sites by local personnel. To guarantee similar quality and format of variables and identical encryption procedure at each site, the linkage center generates semi-automated pre-processing and encryption templates. To retrieve information (i.e. data structure) for the creation of templates without ever accessing plain person identifiable information, we introduced a novel method of data masking. Sensitive string variables are encrypted using Bloom filters, which enables calculation of similarity coefficients. For date variables, we developed special encryption procedures to handle the most common date errors. The linkage center performs probabilistic record linkage with encrypted person identifiable information and plain non-sensitive variables. In this paper we describe step by step how to link existing health-related data using encryption methods to

  6. Linkages between landscapes and human well-being

    Bieling, Claudia; Plieninger, Tobias; Pirker, Heidemarie

    2014-01-01

    in Germany and Austria by performing open, single-question interviews with 262 respondents. Data reveal an outstanding relevance of nonmaterial values. Linkages between landscapes and human well-being are tied to specific features of the material environment but, likewise, practices and experiences play...

  7. Pattern of attack of a galling insect reveals an unexpected preference-performance linkage on medium-sized resources Padrão de ataque de um inseto galhador revela uma inesperada ligação entre preferência e performance sobre recursos de tamanho médio

    Jean C. Santos

    2010-03-01

    Full Text Available Pattern of attack of a galling insect reveals an unexpected preference-performance linkage on medium-sized resources. The Plant Vigor Hypothesis (PVH predicts oviposition preference and higher offspring performance on longer and fast-growing shoots, and although several studies have tested its predictions, long-term studies concerning the patterns of host selection by galling species are still lacking. The PVH was tested in this study using Bauhinia brevipes (Fabaceae as the host of a leaf gall midge, Asphondylia microcapillata (Diptera, Cecidomyiidae during three consecutive years. Shoots were collected from the same 80 plants between 2001 and 2003 and shoot length, number of healthy and galled leaves, gall number, and mortality factors were recorded. Nearly 600 galls were found on the 5,800 shoots collected. Medium-sized shoots supported from 46 to 70% of all galls, with greater gall survival rate in 2002 and 2003. A decrease in parasitism rate coupled with an increase in gall predation lead to a constant similar gall survivorship rate in all years (x = 22.7%. Although gall abundance varied among years (122 in 2001, 114 in 2002 and 359 in 2003 preference for longer shoots was not observed because the percentage of galled shoots and galled leaves were higher on medium shoot length classes in all years. The observed distribution of gall abundance and galled shoots were always greater than the expected distribution on medium shoot length classes. These findings do not support the PVH, and show that A. microcapillata can maximize the female preference and larval performance on medium-sized shoots of B. brevipes.A Hipótese do Vigor de Plantas (HVP prevê uma oviposição preferencial e alta performance da prole em ramos longos e de crescimento rápido da planta hospedeira. Embora diversos estudos tenham testado suas predições, estudos de longa duração focados no padrão de seleção de planta hospedeira por insetos galhadores ainda s

  8. Autosomal dominant distal myopathy: Linkage to chromosome 14

    Laing, N.G.; Laing, B.A.; Wilton, S.D.; Dorosz, S.; Mastaglia, F.L.; Kakulas, B.A. [Australian Neuromuscular Research Institute, Perth (Australia); Robbins, P.; Meredith, C.; Honeyman, K.; Kozman, H.

    1995-02-01

    We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902. A search for linkage was conducted using microsatellite, VNTR, and RFLP markers. In total, 92 markers on all 22 autosomes were run. Positive linkage was obtained with 14 of 15 markers tested on chromosome 14, with little indication of linkage elsewhere in the genome. Maximum two-point LOD scores of 2.60 at recombination fraction .00 were obtained for the markers MYH7 and D14S64 - the family structure precludes a two-point LOD score {ge} 3. Recombinations with D14S72 and D14S49 indicate that this distal myopathy locus, MPD1, should lie between these markers. A multipoint analysis assuming 100% penetrance and using the markers D14S72, D14S50, MYH7, D14S64, D14S54, and D14S49 gave a LOD score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a LOD score of 2.8 at this marker. This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity. 24 refs., 3 figs., 1 tab.

  9. Improving dementia diagnosis and management in primary care: a cohort study of the impact of a training and support program on physician competency, practice patterns, and community linkages.

    Lathren, Christine R; Sloane, Philip D; Hoyle, Joseph D; Zimmerman, Sheryl; Kaufer, Daniel I

    2013-12-10

    Primary care physicians routinely provide dementia care, but may lack the clinical skills and awareness of available resources to provide optimal care. We conducted a community-based pilot dementia training intervention designed to both improve clinical competency and increase utilization of local dementia care services. Physicians (N = 29) and affiliated staff (N = 24) participated in a one-day training program on dementia screening, diagnosis and management that included direct engagement with local support service providers. Questionnaires about their dementia care competency and referral patterns were completed before and 6 months after the training intervention. Physicians reported significantly higher overall confidence in their dementia care competency 6 months post-training compared to pre-training. The largest reported improvements were in their ability to educate patients and caregivers about dementia and making appropriate referrals to community care services. Participants also reported markedly increased use of cognitive screening tools in providing care. Community service providers recorded approximately 160 physician-initiated referrals over a 2 year-period post-training, compared to few beforehand. Combining a targeted physician practice-based educational intervention with community service engagement improves dementia care competency in clinicians and promotes linkages between clinical and community dementia care providers.

  10. Robust LOD scores for variance component-based linkage analysis.

    Blangero, J; Williams, J T; Almasy, L

    2000-01-01

    The variance component method is now widely used for linkage analysis of quantitative traits. Although this approach offers many advantages, the importance of the underlying assumption of multivariate normality of the trait distribution within pedigrees has not been studied extensively. Simulation studies have shown that traits with leptokurtic distributions yield linkage test statistics that exhibit excessive Type I error when analyzed naively. We derive analytical formulae relating the deviation from the expected asymptotic distribution of the lod score to the kurtosis and total heritability of the quantitative trait. A simple correction constant yields a robust lod score for any deviation from normality and for any pedigree structure, and effectively eliminates the problem of inflated Type I error due to misspecification of the underlying probability model in variance component-based linkage analysis.

  11. Comparative study of linkage between environmental policy instruments and technological innovation: Case study on end-of-life vehicles technologies in Japan and EU.

    Singh, Rajeev Kumar; Yabar, Helmut; Nozaki, Noriko; Niraula, Baburam; Mizunoya, Takeshi

    2017-08-01

    A growing population and urbanization is a challenge for finite natural resources. Without strict regulation to recycle, recover and reuse resources, waste is discarded with no value. Every year throughout the world, more than twenty-five million vehicles turn into end-of-life vehicles (ELV) and most of their valuable resources end up in landfill sites. This research analyses the effect of regulation on ELV innovation for additional recovery of resources in Japan and EU nations using patent data as a proxy. The analysis determines the statistical difference in patent activity before and after regulations were enacted in the case studies. The relevant data on ELV technologies was gathered for the period 1985-2013. The study suggests that in general environmental regulation in Japan drove innovation and reveals that environmental policy in Japan was more effective in enabling innovation compared to EU nations. Specifically, the results from these developed countries can be used by the rapidly growing developing countries in automobile manufacturing like China for amendment of their ELV regulation accordingly. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Feasibility of motion laws for planar one degree of freedom linkage mechanisms at dead point configurations

    Lores García, E.; Veciana Fontanet, J. M.; Jordi Nebot, L.

    2018-01-01

    This paper proposes an analytical solution of the Inverse Kinematics (IK) problem at dead point configurations for any planar one degree of freedom linkage mechanism, with regard to the continuity Cn of the motion law. The systems analyzed are those whose elements are linked with lower pairs and do not present redundancies. The study aims to provide the user with some rules to facilitate the design of feasible motion profiles to be reproduced by conventional electrical actuators at these configurations. During the last decades, several methods and techniques have been developed to study this specific configuration. However, these techniques are mainly focused on solving numerically the IK indeterminacy, rather than analyzing the motion laws that the mechanisms are able to perform at these particular configurations. The analysis presented in this paper has been carried out differentiating and applying l'Hôpital's rule to the system of constraint equations ϕ (q) of the mechanism. The study also considers the feasibility of the time-domain profiles to be reproduced with conventional electrical actuators (i.e. AC/DC motors, linear actuators, etc.). To show the usefulness and effectiveness of the method, the development includes the analytical application and numerical simulations for two common one degree of freedom systems: a slider-crank and a four linkage mechanisms. Finally, experimental results are presented on a four linkage mechanism test bed.

  13. Linkage disequilibrium and association mapping.

    Weir, B S

    2008-01-01

    Linkage disequilibrium refers to the association between alleles at different loci. The standard definition applies to two alleles in the same gamete, and it can be regarded as the covariance of indicator variables for the states of those two alleles. The corresponding correlation coefficient rho is the parameter that arises naturally in discussions of tests of association between markers and genetic diseases. A general treatment of association tests makes use of the additive and nonadditive components of variance for the disease gene. In almost all expressions that describe the behavior of association tests, additive variance components are modified by the squared correlation coefficient rho2 and the nonadditive variance components by rho4, suggesting that nonadditive components have less influence than additive components on association tests.

  14. Under-ascertainment of Aboriginality in records of cardiovascular disease in hospital morbidity and mortality data in Western Australia: a record linkage study

    Katzenellenbogen Judy M

    2010-12-01

    Full Text Available Abstract Background Measuring the real burden of cardiovascular disease in Australian Aboriginals is complicated by under-identification of Aboriginality in administrative health data collections. Accurate data is essential to measure Australia's progress in its efforts to intervene to improve health outcomes of Australian Aboriginals. We estimated the under-ascertainment of Aboriginal status in linked morbidity and mortality databases in patients hospitalised with cardiovascular disease. Methods Persons with public hospital admissions for cardiovascular disease in Western Australia during 2000-2005 (and their 20-year admission history or who subsequently died were identified from linkage data. The Aboriginal status flag in all records for a given individual was variously used to determine their ethnicity (index positive, and in all records both majority positive or ever positive and stratified by region, age and gender. The index admission was the baseline comparator. Results Index cases comprised 62,692 individuals who shared a total of 778,714 hospital admissions over 20 years, of which 19,809 subsequently died. There were 3,060 (4.9% persons identified as Aboriginal on index admission. An additional 83 (2.7% Aboriginal cases were identified through death records, increasing to 3.7% when cases with a positive Aboriginal identifier in the majority (≥50% of previous hospital admissions over twenty years were added and by 20.8% when those with a positive flag in any record over 20 years were incorporated. These results equated to underestimating Aboriginal status in unlinked index admission by 2.6%, 3.5% and 17.2%, respectively. Deaths classified as Aboriginal in official records would underestimate total Aboriginal deaths by 26.8% (95% Confidence Interval 24.1 to 29.6%. Conclusions Combining Aboriginal determinations in morbidity and official death records increases ascertainment of unlinked cardiovascular morbidity in Western Australian

  15. Wait times to rheumatology care for patients with rheumatic diseases: a data linkage study of primary care electronic medical records and administrative data.

    Widdifield, Jessica; Bernatsky, Sasha; Thorne, J Carter; Bombardier, Claire; Jaakkimainen, R Liisa; Wing, Laura; Paterson, J Michael; Ivers, Noah; Butt, Debra; Lyddiatt, Anne; Hofstetter, Catherine; Ahluwalia, Vandana; Tu, Karen

    2016-01-01

    The Wait Time Alliance recently established wait time benchmarks for rheumatology consultations in Canada. Our aim was to quantify wait times to primary and rheumatology care for patients with rheumatic diseases. We identified patients from primary care practices in the Electronic Medical Record Administrative data Linked Database who had referrals to Ontario rheumatologists over the period 2000-2013. To assess the full care pathway, we identified dates of symptom onset, presentation in primary care and referral from electronic medical records. Dates of rheumatologist consultations were obtained by linking with physician service claims. We determined the duration of each phase of the care pathway (symptom onset to primary care encounter, primary care encounter to referral, and referral to rheumatologist consultation) and compared them with established benchmarks. Among 2430 referrals from 168 family physicians, 2015 patients (82.9%) were seen by 146 rheumatologists within 1 year of referral. Of the 2430 referrals, 2417 (99.5%) occurred between 2005 and 2013. The main reasons for referral were osteoarthritis (32.4%) and systemic inflammatory rheumatic diseases (30.6%). Wait times varied by diagnosis and geographic region. Overall, the median wait time from referral to rheumatologist consultation was 74 (interquartile range 27-101) days; it was 66 (interquartile range 18-84) days for systemic inflammatory rheumatic diseases. Wait time benchmarks were not achieved, even for the most urgent types of referral. For systemic inflammatory rheumatic diseases, most of the delays occurred before referral. Rheumatology wait times exceeded established benchmarks. Targeted efforts are needed to promote more timely access to both primary and rheumatology care. Routine linkage of electronic medical records with administrative data may help fill important gaps in knowledge about waits to primary and specialty care.

  16. Underuse of Radiation Therapy After Breast Conservation Surgery in Puerto Rico: A Puerto Rico Central Cancer Registry–Health Insurance Linkage Database Study

    William W. Chance

    2017-05-01

    Full Text Available Purpose: To identify rates of postoperative radiation therapy (RT after breast conservation surgery (BCS in women with stage I or II invasive breast cancer treated in Puerto Rico and to examine the sociodemographic and health services characteristics associated with variations in receipt of RT. Methods: The Puerto Rico Central Cancer Registry–Health Insurance Linkage Database was used to identify patients diagnosed with invasive breast cancer between 2008 and 2012 in Puerto Rico. Claims codes identified the type of surgery and the use of RT. Logistic regression models were used to examine the independent association between sociodemographic and clinical covariates. Results: Among women who received BCS as their primary definitive treatment, 64% received adjuvant RT. Significant predictors of RT after BCS included enrollment in Medicare (odds ratio [OR], 2.14; 95% CI, 1.46 to 3.13; P ≤ .01 and dual eligibility for Medicare and Medicaid (OR, 1.61; 95% CI, 1.14 to 2.27; P 2.0 cm and ≤ 5.0 cm (OR, 0.61; 95% CI, 0.40 to 0.93; P = .02 and those with tumor size > 5.0 cm (OR, 0.37; 95% CI, 0.15 to 0.92; P = .03 were found to be significantly less likely to receive RT. Conclusion: Underuse of RT after BCS was identified in Puerto Rico. Patients enrolled in Medicare and those who were dually eligible for Medicaid and Medicare were more likely to receive RT after BCS compared with patients with Medicaid alone. There were geographic variations in the receipt of RT on the island.

  17. A Simple Sampling Method for Estimating the Accuracy of Large Scale Record Linkage Projects.

    Boyd, James H; Guiver, Tenniel; Randall, Sean M; Ferrante, Anna M; Semmens, James B; Anderson, Phil; Dickinson, Teresa

    2016-05-17

    Record linkage techniques allow different data collections to be brought together to provide a wider picture of the health status of individuals. Ensuring high linkage quality is important to guarantee the quality and integrity of research. Current methods for measuring linkage quality typically focus on precision (the proportion of incorrect links), given the difficulty of measuring the proportion of false negatives. The aim of this work is to introduce and evaluate a sampling based method to estimate both precision and recall following record linkage. In the sampling based method, record-pairs from each threshold (including those below the identified cut-off for acceptance) are sampled and clerically reviewed. These results are then applied to the entire set of record-pairs, providing estimates of false positives and false negatives. This method was evaluated on a synthetically generated dataset, where the true match status (which records belonged to the same person) was known. The sampled estimates of linkage quality were relatively close to actual linkage quality metrics calculated for the whole synthetic dataset. The precision and recall measures for seven reviewers were very consistent with little variation in the clerical assessment results (overall agreement using the Fleiss Kappa statistics was 0.601). This method presents as a possible means of accurately estimating matching quality and refining linkages in population level linkage studies. The sampling approach is especially important for large project linkages where the number of record pairs produced may be very large often running into millions.

  18. The Dynamics of Linkages and Innovativeness in Publicly and ...

    The study examined how linkages among actors in the cocoa and pineapple value chains relate to the innovativeness of actors in the chains. The study showed that a policy environment that promoted public sector leadership in value chain functions and service provision, tended to offer less incentives for smallholder ...

  19. Identification of weak and gender specific effects in a short 3 weeks intervention study using barley and oat mixed linkage β-glucan dietary supplements

    Trimigno, Alessia; Khakimov, Bekzod; Castro Mejia, Josue Leonardo

    2017-01-01

    acid analysis was performed on day three fecal samples. ANOVA-simultaneous component analysis was applied to partition the data variation according to the study design, and PLS-DA was used to select most discriminative metabolite markers. RESULTS: Univariate and multivariate data analysis revealed...... a dominating effect of inter-individual variances followed by a gender effect. Weak effects of BG intake were identified including an increased level of gamma-amino-butyrate and palmitoleic acid in males and a decreased level of enterolactone in females. Barley and oat derived BG were found to influence......, respectively. CONCLUSIONS: The study show that human fecal metabolome largely reflects individual (∼28% variation) and gender (∼15% variation) differences, whereas the treatment effect of the BG (∼8% variation) only manifests in a few key metabolites (primarily by the metabolites: d-2-aminobutyric acid...

  20. Performance appraisal of coaches: Acomparative study | Surujlal ...

    Within the sport environment, the performance appraisal of coaches continues to be an issue. The performance appraisal of coaches is critical to sport organizations since major decisions like rewarding or terminating coaches is based on it. The purpose of this study was to examine whether any differences exist with regard ...

  1. An estimating function approach to linkage heterogeneity

    Testing linkage heterogeneity between two loci is an important issue in genetics. Currently, there are ... on linkage heterogeneity can help people to better understand complex .... χ2(F − 2) + cχ2 (1), where c is a constant (see Appendix). Here, it can be ..... gin, ancestry, gender, age, etc., for purpose of dividing sub- groups to ...

  2. US QCD computational performance studies with PERI

    Zhang, Y; Fowler, R; Huck, K; Malony, A; Porterfield, A; Reed, D; Shende, S; Taylor, V; Wu, X

    2007-01-01

    We report on some of the interactions between two SciDAC projects: The National Computational Infrastructure for Lattice Gauge Theory (USQCD), and the Performance Engineering Research Institute (PERI). Many modern scientific programs consistently report the need for faster computational resources to maintain global competitiveness. However, as the size and complexity of emerging high end computing (HEC) systems continue to rise, achieving good performance on such systems is becoming ever more challenging. In order to take full advantage of the resources, it is crucial to understand the characteristics of relevant scientific applications and the systems these applications are running on. Using tools developed under PERI and by other performance measurement researchers, we studied the performance of two applications, MILC and Chroma, on several high performance computing systems at DOE laboratories. In the case of Chroma, we discuss how the use of C++ and modern software engineering and programming methods are driving the evolution of performance tools

  3. Point-of-Care HIV Testing and Linkage in an Urban Cohort in the Southern US

    Anne Zinski

    2013-01-01

    Full Text Available The Southern states experience the highest rates of HIV and AIDS in the US, and point-of-care (POC testing outside of primary care may contribute to status awareness in medically underserved populations in this region. To evaluate POC screening and linkage to care at an urban south site, analyses were performed on a dataset of 3,651 individuals from an integrated rapid-result HIV testing and linkage program to describe this test-seeking cohort and determine trends associated with screening, results, and linkage to care. Four percent of the population had positive results. We observed significant differences by test result for age, race and gender, reported risk behaviors, test location, and motivation for screening. The overall linkage rate was 86%, and we found significant differences for clients who were linked to HIV care versus persons whose linkage could not be confirmed with respect to race and gender, location, and motivation. The linkage rate for POC testing that included a comprehensive intake visit and colocated primary care services for in-state residents was 97%. Additional research on integrated POC screening and linkage methodologies that provide intake services at time of testing is essential for increasing status awareness and improving linkage to HIV care in the US.

  4. Linkages between biodiversity attributes and ecosystem services: A systematic review

    Harrison, P.A.; Berry, P.M.; Simpson, G.; Haslett, J.R.; Blicharska, M.; Bucur, M.; Dunford, R.; Egoh, B.; Garcia-llorente, M.; Geamănă, N.; Geertsema, W.; Lommelen, E.; Meiresonne, L.; Turkelboom, F.

    2014-01-01

    A systematic literature review was undertaken to analyse the linkages between different biodiversity attributes and 11 ecosystem services. The majority of relationships between attributes and ecosystem services cited in the 530 studies were positive. For example, the services of water quality

  5. Linkages among Key Actors in the Climate Change and Food ...

    Sierra Leone and Liberia, but a low linkage index of less than 2 between farmers and policy making bodies for all the countries. Poor generation of innovations over the past ten years and poor domestic support for climate change adaptation and food security in the West African sub-region were identified. The study points to ...

  6. Human Capital Linkages to Labour Productivity: Implications from Thai Manufacturers

    Rukumnuaykit, Pungpond; Pholphirul, Piriya

    2016-01-01

    Human capital investment is a necessary condition for improving labour market outcomes in most countries. Empirical studies to investigate human capital and its linkages on the labour demand side are, however, relatively scarce due to limitations of firm-level data-sets. Using firm-level data from the Thai manufacturing sector, this paper aims to…

  7. Patient and provider perspectives on improving the linkage of HIV ...

    This study examined barriers and facilitators to the linkage of HIV-positive pregnant women from antenatal care (ANC) to long-term HIV care from patient and provider perspectives, following the implementation of a collaborative quality improvement project in Eastern Uganda. It also solicited recommendations for improving ...

  8. Linkages over Time between Adolescents' Relationships with Parents and Friends

    De Goede, Irene H. A.; Branje, Susan J. T.; Delsing, Marc J. M. H.; Meeus, Wim H. J.

    2009-01-01

    This 5-wave longitudinal study examines linkages over time between adolescents' perceptions of relationships with parents and friends with respect to support, negative interaction, and power. A total of 575 early adolescents (54.1% boys) and 337 middle adolescents (43.3% boys) participated. Path analyses mainly showed bidirectional associations…

  9. Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

    Bergen, A. A.; van den Born, L. I.; Schuurman, E. J.; Pinckers, A. J.; van Ommen, G. J.; Bleekers-Wagemakers, E. M.; Sandkuijl, L. A.

    1995-01-01

    Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The results of both multipoint linkage analysis in

  10. Testing for linkage disequilibrium in the New Zealand radiata pine breeding population

    S. Kumar; Craig Echt; P.L. Wilcox; T.E. Richardson

    2004-01-01

    Linkage analysis is commonly uscd to find marker-trait associations within the full-sib families of forest tree and other species. Study of marker-trait associations at the population level is termed linkage-disequilibrium (LD) mapping. A female-tester design comprising 200 full-sib families generated by crossing 40 pollen parents with five female parents was used to...

  11. Direct power comparisons between simple LOD scores and NPL scores for linkage analysis in complex diseases.

    Abreu, P C; Greenberg, D A; Hodge, S E

    1999-09-01

    Several methods have been proposed for linkage analysis of complex traits with unknown mode of inheritance. These methods include the LOD score maximized over disease models (MMLS) and the "nonparametric" linkage (NPL) statistic. In previous work, we evaluated the increase of type I error when maximizing over two or more genetic models, and we compared the power of MMLS to detect linkage, in a number of complex modes of inheritance, with analysis assuming the true model. In the present study, we compare MMLS and NPL directly. We simulated 100 data sets with 20 families each, using 26 generating models: (1) 4 intermediate models (penetrance of heterozygote between that of the two homozygotes); (2) 6 two-locus additive models; and (3) 16 two-locus heterogeneity models (admixture alpha = 1.0,.7,.5, and.3; alpha = 1.0 replicates simple Mendelian models). For LOD scores, we assumed dominant and recessive inheritance with 50% penetrance. We took the higher of the two maximum LOD scores and subtracted 0.3 to correct for multiple tests (MMLS-C). We compared expected maximum LOD scores and power, using MMLS-C and NPL as well as the true model. Since NPL uses only the affected family members, we also performed an affecteds-only analysis using MMLS-C. The MMLS-C was both uniformly more powerful than NPL for most cases we examined, except when linkage information was low, and close to the results for the true model under locus heterogeneity. We still found better power for the MMLS-C compared with NPL in affecteds-only analysis. The results show that use of two simple modes of inheritance at a fixed penetrance can have more power than NPL when the trait mode of inheritance is complex and when there is heterogeneity in the data set.

  12. Operator performance in non-destructive testing: A study of operator performance in a performance test

    Enkvist, J.; Edland, A.; Svenson, Ola [Stockholm Univ. (Sweden). Dept. of Psychology

    2000-05-15

    In the process industries there is a need of inspecting the integrity of critical components without disrupting the process. Such in-service inspections are typically performed with non-destructive testing (NDT). In NDT the task of the operator is to (based on diagnostic information) decide if the component can remain in service or not. The present study looks at the performance in NDT. The aim is to improve performance, in the long run, by exploring the operators' decision strategies and other underlying factors and to this way find out what makes some operators more successful than others. Sixteen operators performed manual ultrasonic inspections of four test pieces with the aim to detect (implanted) cracks. In addition to these performance demonstration tests (PDT), the operators performed independent ability tests and filled out questionnaires. The results show that operators who trust their gut feeling more than the procedure (when the two come to different results) and that at the same time have a positive attitude towards the procedure have a higher PDT performance. These results indicate the need for operators to be motivated and confident when performing NDT. It was also found that the operators who performed better rated more decision criteria higher in the detection phase than the operators who performed worse. For characterizing it was the other way around. Also, the operators who performed better used more time, both detecting and characterizing, than the operators who performed worse.

  13. Operator performance in non-destructive testing: A study of operator performance in a performance test

    Enkvist, J.; Edland, A.; Svenson, Ola

    2000-05-01

    In the process industries there is a need of inspecting the integrity of critical components without disrupting the process. Such in-service inspections are typically performed with non-destructive testing (NDT). In NDT the task of the operator is to (based on diagnostic information) decide if the component can remain in service or not. The present study looks at the performance in NDT. The aim is to improve performance, in the long run, by exploring the operators' decision strategies and other underlying factors and to this way find out what makes some operators more successful than others. Sixteen operators performed manual ultrasonic inspections of four test pieces with the aim to detect (implanted) cracks. In addition to these performance demonstration tests (PDT), the operators performed independent ability tests and filled out questionnaires. The results show that operators who trust their gut feeling more than the procedure (when the two come to different results) and that at the same time have a positive attitude towards the procedure have a higher PDT performance. These results indicate the need for operators to be motivated and confident when performing NDT. It was also found that the operators who performed better rated more decision criteria higher in the detection phase than the operators who performed worse. For characterizing it was the other way around. Also, the operators who performed better used more time, both detecting and characterizing, than the operators who performed worse

  14. A Study of Vicon System Positioning Performance

    Pierre Merriaux

    2017-07-01

    Full Text Available Motion capture setups are used in numerous fields. Studies based on motion capture data can be found in biomechanical, sport or animal science. Clinical science studies include gait analysis as well as balance, posture and motor control. Robotic applications encompass object tracking. Today’s life applications includes entertainment or augmented reality. Still, few studies investigate the positioning performance of motion capture setups. In this paper, we study the positioning performance of one player in the optoelectronic motion capture based on markers: Vicon system. Our protocol includes evaluations of static and dynamic performances. Mean error as well as positioning variabilities are studied with calibrated ground truth setups that are not based on other motion capture modalities. We introduce a new setup that enables directly estimating the absolute positioning accuracy for dynamic experiments contrary to state-of-the art works that rely on inter-marker distances. The system performs well on static experiments with a mean absolute error of 0.15 mm and a variability lower than 0.025 mm. Our dynamic experiments were carried out at speeds found in real applications. Our work suggests that the system error is less than 2 mm. We also found that marker size and Vicon sampling rate must be carefully chosen with respect to the speed encountered in the application in order to reach optimal positioning performance that can go to 0.3 mm for our dynamic study.

  15. An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error

    Abbott, Diana; Li, Yi-Ju; Guggenheim, Jeremy A

    2012-01-01

    To investigate quantitative trait loci linked to refractive error, we performed a genome-wide quantitative trait linkage analysis using single nucleotide polymorphism markers and family data from five international sites....

  16. Linkage study of voltage-gated potassium channels in familial mesial temporal lobe epilepsy Análise de ligação dos canais de potássio voltagem-dependente na epilepsia de lobo temporal mesial familiar

    Cláudia Vianna Maurer-Morelli

    2007-03-01

    Full Text Available Voltage-gated potassium channels (VGKCs play a critical role in the regulation of neuronal excitability and have been implicated in some types of epilepsies. Recently, autoimmune limbic encephalitis (LE was associated with antibodies against VGKC. In addition, patients with LE showed partial epilepsy and increased T2 signal abnormalities in limbic structures. We have reported familial mesial temporal lobe epilepsy (FMTLE associated with hippocampal atrophy (HA and other signs of mesial temporal sclerosis detected by magnetic resonance imaging (MRI. In order to investigate whether VGKC may be associated to HA present in FMTLE, we perform linkage study in these candidate genes. Seventy-three microsatellites markers were genotyped in different human autosomal chromosome. Two-point LOD scores did not show evidence for linkage with any of the microsatellite markers genotyped (Zmax ranging from 0.11to-9.53 at theta=0.00. In the present study, linkage data showed no evidence that VGKC are involved in the determination of HA in FMTLE.Canais de potássio voltagem-dependentes (CPVD desempenham importante papel na excitabilidade neuronal e estão associados a determinados tipos de epilepsia. Recentemente, um tipo de encefalite límbica autoimune (EL foi associado com anticorpos contra CPVD. Além disso, há relatos de pacientes com EL e epilepsia parcial, além de hipersinal em regiões límbicas detectadas em imagens de ressonância magnética (IRM. Nós temos descrito a epilepsia de lobo temporal mesial familial (ELTMF associada à atrofia hipocampal (AH e outros sinais de esclerose mesial temporal observadas em IRM. Para investigar se os CPVD podem estar associados com a AH identificada na ELTMF, empregamos o estudo de ligação genética nesses genes candidatos. Setenta e três marcadores microssatélites foram genotipados e o LOD score de dois pontos mostrou Zmax variando de 0.11 a -9.53 para teta=0.00. No presente estudo, os dados obtidos com a an

  17. Time preferences, study effort, and academic performance

    Non, J.A.; Tempelaar, D.T.

    2014-01-01

    We analyze the relation between time preferences, study effort, and academic performance among first-year Business and Economics students. Time preferences are measured by stated preferences for an immediate payment over larger delayed payments. Data on study efforts are derived from an electronic

  18. Validation of an instrument to measure inter-organisational linkages in general practice.

    Amoroso, Cheryl; Proudfoot, Judith; Bubner, Tanya; Jayasinghe, Upali W; Holton, Christine; Winstanley, Julie; Beilby, Justin; Harris, Mark F

    2007-12-03

    Linkages between general medical practices and external services are important for high quality chronic disease care. The purpose of this research is to describe the development, evaluation and use of a brief tool that measures the comprehensiveness and quality of a general practice's linkages with external providers for the management of patients with chronic disease. In this study, clinical linkages are defined as the communication, support, and referral arrangements between services for the care and assistance of patients with chronic disease. An interview to measure surgery-level (rather than individual clinician-level) clinical linkages was developed, piloted, reviewed, and evaluated with 97 Australian general practices. Two validated survey instruments were posted to patients, and a survey of locally available services was developed and posted to participating Divisions of General Practice (support organisations). Hypotheses regarding internal validity, association with local services, and patient satisfaction were tested using factor analysis, logistic regression and multilevel regression models. The resulting General Practice Clinical Linkages Interview (GP-CLI) is a nine-item tool with three underlying factors: referral and advice linkages, shared care and care planning linkages, and community access and awareness linkages. Local availability of chronic disease services has no affect on the comprehensiveness of services with which practices link, however, comprehensiveness of clinical linkages has an association with patient assessment of access, receptionist services, and of continuity of care in their general practice. The GP-CLI may be useful to researchers examining comparable health care systems for measuring the comprehensiveness and quality of linkages at a general practice-level with related services, possessing both internal and external validity. The tool can be used with large samples exploring the impact, outcomes, and facilitators of high

  19. Validation of an instrument to measure inter-organisational linkages in general practice

    Cheryl Amoroso

    2007-11-01

    Full Text Available Purpose: Linkages between general medical practices and external services are important for high quality chronic disease care. The purpose of this research is to describe the development, evaluation and use of a brief tool that measures the comprehensiveness and quality of a general practice’s linkages with external providers for the management of patients with chronic disease. In this study, clinical linkages are defined as the communication, support, and referral arrangements between services for the care and assistance of patients with chronic disease. Methods: An interview to measure surgery-level (rather than individual clinician-level clinical linkages was developed, piloted, reviewed, and evaluated with 97 Australian general practices. Two validated survey instruments were posted to patients, and a survey of locally available services was developed and posted to participating Divisions of General Practice (support organisations. Hypotheses regarding internal validity, association with local services, and patient satisfaction were tested using factor analysis, logistic regression and multilevel regression models. Results: The resulting General Practice Clinical Linkages Interview (GP-CLI is a nine-item tool with three underlying factors: referral and advice linkages, shared care and care planning linkages, and community access and awareness linkages. Local availability of chronic disease services has no affect on the comprehensiveness of services with which practices link, however comprehensiveness of clinical linkages has an association with patient assessment of access, receptionist services, and of continuity of care in their general practice. Conclusions: The GP-CLI may be useful to researchers examining comparable health care systems for measuring the comprehensiveness and quality of linkages at a general practice-level with related services, possessing both internal and external validity. The tool can be used with large samples

  20. Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5

    Nolan Daniel K

    2012-02-01

    Full Text Available Abstract Background Coronary artery disease (CAD, and one of its intermediate risk factors, dyslipidemia, possess a demonstrable genetic component, although the genetic architecture is incompletely defined. We previously reported a linkage peak on chromosome 5q31-33 for early-onset CAD where the strength of evidence for linkage was increased in families with higher mean low density lipoprotein-cholesterol (LDL-C. Therefore, we sought to fine-map the peak using association mapping of LDL-C as an intermediate disease-related trait to further define the etiology of this linkage peak. The study populations consisted of 1908 individuals from the CATHGEN biorepository of patients undergoing cardiac catheterization; 254 families (N = 827 individuals from the GENECARD familial study of early-onset CAD; and 162 aorta samples harvested from deceased donors. Linkage disequilibrium-tagged SNPs were selected with an average of one SNP per 20 kb for 126.6-160.2 MB (region of highest linkage and less dense spacing (one SNP per 50 kb for the flanking regions (117.7-126.6 and 160.2-167.5 MB and genotyped on all samples using a custom Illumina array. Association analysis of each SNP with LDL-C was performed using multivariable linear regression (CATHGEN and the quantitative trait transmission disequilibrium test (QTDT; GENECARD. SNPs associated with the intermediate quantitative trait, LDL-C, were then assessed for association with CAD (i.e., a qualitative phenotype using linkage and association in the presence of linkage (APL; GENECARD and logistic regression (CATHGEN and aortas. Results We identified four genes with SNPs that showed the strongest and most consistent associations with LDL-C and CAD: EBF1, PPP2R2B, SPOCK1, and PRELID2. The most significant results for association of SNPs with LDL-C were: EBF1, rs6865969, p = 0.01; PPP2R2B, rs2125443, p = 0.005; SPOCK1, rs17600115, p = 0.003; and PRELID2, rs10074645, p = 0.0002. The most significant results for

  1. Rapid genotyping with DNA micro-arrays for high-density linkage mapping and QTL mapping in common buckwheat (Fagopyrum esculentum Moench)

    Yabe, Shiori; Hara, Takashi; Ueno, Mariko; Enoki, Hiroyuki; Kimura, Tatsuro; Nishimura, Satoru; Yasui, Yasuo; Ohsawa, Ryo; Iwata, Hiroyoshi

    2014-01-01

    For genetic studies and genomics-assisted breeding, particularly of minor crops, a genotyping system that does not require a priori genomic information is preferable. Here, we demonstrated the potential of a novel array-based genotyping system for the rapid construction of high-density linkage map and quantitative trait loci (QTL) mapping. By using the system, we successfully constructed an accurate, high-density linkage map for common buckwheat (Fagopyrum esculentum Moench); the map was composed of 756 loci and included 8,884 markers. The number of linkage groups converged to eight, which is the basic number of chromosomes in common buckwheat. The sizes of the linkage groups of the P1 and P2 maps were 773.8 and 800.4 cM, respectively. The average interval between adjacent loci was 2.13 cM. The linkage map constructed here will be useful for the analysis of other common buckwheat populations. We also performed QTL mapping for main stem length and detected four QTL. It took 37 days to process 178 samples from DNA extraction to genotyping, indicating the system enables genotyping of genome-wide markers for a few hundred buckwheat plants before the plants mature. The novel system will be useful for genomics-assisted breeding in minor crops without a priori genomic information. PMID:25914583

  2. Analysis of Linkage Effects among Currency Networks Using REER Data

    Haishu Qiao

    2015-01-01

    Full Text Available We modeled the currency networks through the use of REER (real effective exchange rate instead of a bilateral exchange rate in order to overcome the confusion in selecting base currencies. Based on the MST (minimum spanning tree approach and the rolling-window method, we constructed time-varying and correlation-based networks with which we investigate the linkage effects among different currencies. In particular, and as the source of empirical data, we chose the monthly REER data for a set of 61 major currencies during the period from 1994 to 2014. The study demonstrated that obvious linkage effects existed among currency networks and the euro (EUR was confirmed as the predominant world currency. Additionally, we used the rolling-window method to investigate the stability of linkage effects, doing so by calculating the mean correlations and mean distances as well as the normalized tree length and degrees of those currencies. The results showed that financial crises during the study period had a great effect on the currency network’s topology structure and led to more clustered currency networks. Our results suggested that it is more appropriate to estimate the linkage effects among currency networks through the use of REER data.

  3. Applying Topographic Classification, Based on the Hydrological Process, to Design Habitat Linkages for Climate Change

    Yongwon Mo

    2017-11-01

    Full Text Available The use of biodiversity surrogates has been discussed in the context of designing habitat linkages to support the migration of species affected by climate change. Topography has been proposed as a useful surrogate in the coarse-filter approach, as the hydrological process caused by topography such as erosion and accumulation is the basis of ecological processes. However, some studies that have designed topographic linkages as habitat linkages, so far have focused much on the shape of the topography (morphometric topographic classification with little emphasis on the hydrological processes (generic topographic classification to find such topographic linkages. We aimed to understand whether generic classification was valid for designing these linkages. First, we evaluated whether topographic classification is more appropriate for describing actual (coniferous and deciduous and potential (mammals and amphibians habitat distributions. Second, we analyzed the difference in the linkages between the morphometric and generic topographic classifications. The results showed that the generic classification represented the actual distribution of the trees, but neither the morphometric nor the generic classification could represent the potential animal distributions adequately. Our study demonstrated that the topographic classes, according to the generic classification, were arranged successively according to the flow of water, nutrients, and sediment; therefore, it would be advantageous to secure linkages with a width of 1 km or more. In addition, the edge effect would be smaller than with the morphometric classification. Accordingly, we suggest that topographic characteristics, based on the hydrological process, are required to design topographic linkages for climate change.

  4. Changes in psychosocial and physical working conditions and psychotropic medication in ageing public sector employees: a record-linkage follow-up study.

    Kouvonen, Anne; Mänty, Minna; Lallukka, Tea; Pietiläinen, Olli; Lahelma, Eero; Rahkonen, Ossi

    2017-07-12

    To investigate whether changes in psychosocial and physical working conditions are associated with subsequent psychotropic medication in ageing employees. Data were from the Helsinki Health Study, a cohort study of Finnish municipal employees, aged 40-60 years at phase 1 (2000-2002). Changes in psychosocial and physical working conditions were measured between phase 1 and phase 2 (2007). Survey data were longitudinally linked to data on prescribed, reimbursed psychotropic medication purchases (Anatomical Therapeutic Chemical) obtained from the registers of the Social Insurance Institution of Finland between the phase 2 survey and December 2013 (N=3587; 80% women). Outcomes were any psychotropic medication; antidepressants (N06A); anxiolytics (N05B); and sedatives and hypnotics (N05C). Cox regression analyses were performed. During the follow-up, 28% of the participants were prescribed psychotropic medication. Repeated exposures to low job control, high job demands and high physical work load were associated with an increased risk of subsequent antidepressant and anxiolytic medication. Increased and repeated exposure to high physical work load, increased job control and repeated high job demands were associated with subsequent sedative and hypnotic medication. Age and sex-adjusted HR varied from 1.18 to 1.66. Improvement in job control was associated with a lower risk of anxiolytic, but with a higher risk of sedatives and hypnotic medication. Decreased physical work load was associated with a lower risk of antidepressant and anxiolytic medications. Improvement in working conditions could lower the risk of mental ill-health indicated by psychotropic medication. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  5. Carrier and symbol synchronization system performance study

    Lindsey, W. C.

    1976-01-01

    Results pertinent to predicting the performance of convolutionally encoded binary phase-shift keyed communication links were presented. The details of the development are provided in four sections. These sections are concerned with developing the bit error probability performance degradations due to PN despreading by a time-shared delay locked loop, the Costas demodulation process, symbol synchronization effects and cycle slipping phenomena in the Costas loop. In addition, Costas cycle slipping probabilities are studied as functions of Doppler count time and signal-to-noise conditions. The effect of cycle slipping in the symbol synchronizer is also studied as a function of channel Doppler and other frequency uncertainties.

  6. Broad scan linkage analysis in a large Tourette family pedigree

    Peiffer, A.; Leppert, M. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States); Wetering, B.J.M. van der [Univ. Hospital Rotterdam (Netherlands)

    1994-09-01

    Attempts to find a gene causing Tourette syndrome (TS) using linkage analysis have been unsuccessful even though as much as 65% of the autosomal genetic map has been excluded by the pooled results from several laboratories collaborating worldwide. One reason for this failure may be the misclassification of affection status of marry-in spouses. Specifically, we have found that six unrelated spouses in our Utah TS pedigree suffer from TS, obsessive-compulsive disorder or chronic motor tics. In light of these findings we decided to conduct a complete genomic scan from this Utah kindred with polymorphic markers in three related sibships in which there was no assortative mating. A linkage study assuming autosomal dominant inheritance was done using tetranucleotide repeat markers developed at the University of Utah. We selected markers that were less than 300 bp in size and that gave a heterozygosity of over 70% upon analysis in 4 CEPH families. Results to date with 95 markers run at an interval of 30 cM (covering 61% of the genome) show no evidence of linkage. We intend to extend the coverage to 100% of the genome. Pending completion of this scan, failure to provide evidence of linkage in our TS pedigree might then be attributed to phenotypic misclassification or erroneous assumptions regarding the genetic model of transmission.

  7. Resource linkages and sustainable development

    Anouti, Yahya

    Historically, fossil fuel consumers in most developing hydrocarbon-rich countries have enjoyed retail prices at a discount from international benchmarks. Governments of these countries consider the subsidy transfer to be a means for sharing the wealth from their resource endowment. These subsidies create negative economic, environmental, and social distortions, which can only increase over time with a fast growing, young, and rich population. The pressure to phase out these subsidies has been mounting over the last years. At the same time, policy makers in resource-rich developing countries are keen to obtain the greatest benefits for their economies from the extraction of their exhaustible resources. To this end, they are deploying local content policies with the aim of increasing the economic linkages from extracting their resources. Against this background, this dissertation's three essays evaluate (1) the global impact of rationalizing transport fuel prices, (2) how resource-rich countries can achieve the objectives behind fuel subsidies more efficiently through direct cash transfers, and (3) the economic tradeoffs from deploying local content policies and the presence of an optimal path. We begin by reviewing the literature and building the case for rationalizing transport fuel prices to reflect their direct costs (production), indirect costs (road maintenance) and negative externalities (climate change, local pollutants, traffic accidents and congestion). To do so, we increase the scope of the economic literature by presenting an algorithm to evaluate the rationalized prices in different countries. Then, we apply this algorithm to quantify the rationalized prices across 123 countries in a partial equilibrium setting. Finally, we present the first comprehensive measure of the impact of rationalizing fuel prices on the global demand for gasoline and diesel, environmental emissions, government revenues, and consumers' welfare. By rationalizing transport fuel

  8. Missing Linkages in California's Landscape [ds420

    California Natural Resource Agency — The critical need for conserving landscape linkages first came to the forefront of conservation thinking in California in November 2000, when a statewide interagency...

  9. Multiobjective optimization of a steering linkage

    Sleesonsom, S.; Bureerat, S. [Sustainable and Infrastructure Research and Development Center, Dept. of Mechanical Engineering, Faculty of Engineering, Khon Kaen University, Khon Kaen (Thailand)

    2016-08-15

    In this paper, multi-objective optimization of a rack-and-pinion steering linkage is proposed. This steering linkage is a common mechanism used in small cars with three advantages as it is simple to construct, economical to manufacture, and compact and easy to operate. In the previous works, many researchers tried to minimize a steering error but minimization of a turning radius is somewhat ignored. As a result, a multi-objective optimization problem is assigned to simultaneously minimize a steering error and a turning radius. The design variables are linkage dimensions. The design problem is solved by the hybrid of multi-objective population-based incremental learning and differential evolution with various constraint handling schemes. The new design strategy leads to effective design of rack-and-pinion steering linkages satisfying both steering error and turning radius criteria.

  10. EDITORIAL Development Linkages between Tree Breeding ...

    EDITORIAL Development Linkages between Tree Breeding Programmes and National/Regional Tree Seed Centres in Africa. ... Discovery and Innovation. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives.

  11. Missing Linkages in California's Landscape [ds420

    California Department of Resources — The critical need for conserving landscape linkages first came to the forefront of conservation thinking in California in November 2000, when a statewide interagency...

  12. Multiobjective optimization of a steering linkage

    Sleesonsom, S.; Bureerat, S.

    2016-01-01

    In this paper, multi-objective optimization of a rack-and-pinion steering linkage is proposed. This steering linkage is a common mechanism used in small cars with three advantages as it is simple to construct, economical to manufacture, and compact and easy to operate. In the previous works, many researchers tried to minimize a steering error but minimization of a turning radius is somewhat ignored. As a result, a multi-objective optimization problem is assigned to simultaneously minimize a steering error and a turning radius. The design variables are linkage dimensions. The design problem is solved by the hybrid of multi-objective population-based incremental learning and differential evolution with various constraint handling schemes. The new design strategy leads to effective design of rack-and-pinion steering linkages satisfying both steering error and turning radius criteria

  13. EVA Health and Human Performance Benchmarking Study

    Abercromby, A. F.; Norcross, J.; Jarvis, S. L.

    2016-01-01

    Multiple HRP Risks and Gaps require detailed characterization of human health and performance during exploration extravehicular activity (EVA) tasks; however, a rigorous and comprehensive methodology for characterizing and comparing the health and human performance implications of current and future EVA spacesuit designs does not exist. This study will identify and implement functional tasks and metrics, both objective and subjective, that are relevant to health and human performance, such as metabolic expenditure, suit fit, discomfort, suited postural stability, cognitive performance, and potentially biochemical responses for humans working inside different EVA suits doing functional tasks under the appropriate simulated reduced gravity environments. This study will provide health and human performance benchmark data for humans working in current EVA suits (EMU, Mark III, and Z2) as well as shirtsleeves using a standard set of tasks and metrics with quantified reliability. Results and methodologies developed during this test will provide benchmark data against which future EVA suits, and different suit configurations (eg, varied pressure, mass, CG) may be reliably compared in subsequent tests. Results will also inform fitness for duty standards as well as design requirements and operations concepts for future EVA suits and other exploration systems.

  14. The acceptability of conducting data linkage research without obtaining consent: lay people's views and justifications.

    Xafis, Vicki

    2015-11-17

    A key ethical issue arising in data linkage research relates to consent requirements. Patients' consent preferences in the context of health research have been explored but their consent preferences regarding data linkage specifically have been under-explored. In addition, the views on data linkage are often those of patient groups. As a result, little is known about lay people's views and their preferences about consent requirements in the context of data linkage. This study explores lay people's views and justifications regarding the acceptability of conducting data linkage research without obtaining consent. A qualitative study explored lay people's views regarding consent requirements in data linkage via four hypothetical data linkage scenarios of increasing complexity. Prior to considering the scenarios, participants were provided with information regarding best practice data linkage processes via discussion and a diagrammatic representation of the process. Lay people were able to understand the intricate processes involved in data linkage and the key protections afforded within a short amount of time. They were supportive of data linkage research and, on the whole, believed it should be conducted without consent provided a data linkage organization de-identifies the data used so that researchers do not handle identifiable data. Many thought that de-identified data holds a different status to identifiable data and should be used without specific consent in research that aims to benefit society. In weighing up conflicting values and interests, participants shifted consent preferences before arriving at their final consent preference for each scenario and provided justifications for their choices. They considered the protection of people's information, societal benefits, and the nature and constraints of research and recognized that these need to be balanced. With some exposure to the features of data linkage, lay people have the capacity to understand the

  15. Asian Financial Linkages: The Case of Japan

    Fialová, Anežka

    2014-01-01

    This work reviews the topic of international financial linkages, including theoretical definitions and the main methodological approaches of the empirical measurement based on vector autoregressive models. One of the approaches, the Spillover Index methodology based on Diebold & Yilmaz (2009), is then used to analyze the developments of financial linkages of the Japanese stock market in the period from 1995 to 2012. The attention is paid both to the relations with western developed economies ...

  16. Building Enclosure Hygrothermal Performance Study, Phase 1

    Karagiozis, A.N.

    2002-08-08

    The moisture performance of three different classes of wall systems has been investigated in the context of the preliminary hygrothermal analysis of walls in Seattle. The results reported in this phase specifically address the moisture performance of walls designed with loads that have some unintentional water penetration. The results have been developed in a manner to present the relative performance of the walls in the same climate with similar water penetration effects. The analysis was performed with the best available input data. Several limitations should be recognized within the context of this study. Results showed that selection of wooden sheathing boards on interior vapor-tight assemblies does not significantly influence the performance of stucco-clad walls. A larger effect was observed when the interior vapor control is made vapor open. When continuous cavity ventilation is employed, the effect of the selection of the type of sheathing board on the hygrothermal performance of the wall was found to be negligible. When comparing oriented strand board sheathing performance against the performance of exterior grade gypsum, the differences are very significant in terms of the amount of moisture content present in the walls. Moisture content alone does not indicate their respective durability as durability is directly related to the combination of relative humidity and temperature, mechanical, chemical, and biological properties of the substrates. This study did not investigate the durability performance of either sheathing. In terms of interior vapor control, inhabitant behavior must be considered during the wall hygrothermal design stage. If interior relative humidity is maintained below 60%, then a latex primer and paint may perform better than the use of PVA or even a polyethylene sheet. When the interior environment is maintained at a higher relative humidity, then stricter vapor control is needed. Multilayered building paper was experimentally shown to

  17. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Anna L Mitchell

    Full Text Available Autoimmune Addison's disease (AAD is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered.DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18, on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls. The data were analysed using a meta-analysis approach.In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7. A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene.This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  18. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

    Mitchell, Anna L; Bøe Wolff, Anette; MacArthur, Katie; Weaver, Jolanta U; Vaidya, Bijay; Erichsen, Martina M; Darlay, Rebecca; Husebye, Eystein S; Cordell, Heather J; Pearce, Simon H S

    2015-01-01

    Autoimmune Addison's disease (AAD) is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered. DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls) were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18), on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls). The data were analysed using a meta-analysis approach. In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7). A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene. This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  19. Performances Study of a Hybrid Rocket Engine

    Adrian-Nicolae BUTURACHE

    2018-06-01

    Full Text Available This paper presents a study which analyses the functioning and performances optimization of a hybrid rocket engine based on gaseous oxygen and polybutadiene polymer (HTPB. Calculations were performed with NASA CEA software in order to obtain the parameters resulted following the combustion process. Using these parameters, the main parameters of the hybrid rocket engine were optimized. Using the calculus previously stated, an experimental rocket engine producing 100 N of thrust was pre-dimensioned, followed by an optimization of the rocket engine as a function of several parameters. Having the geometry and the main parameters of the hybrid rocket engine combustion process, numerical simulations were performed in the CFX – ANSYS commercial software, which allowed visualizing the flow field and the jet expansion. Finally, the analytical calculus was validated through numerical simulations.

  20. Linking employee confidence to performance: a study of self-managing service teams

    Jong, de A.; Ruyter, de J.C.; Wetzels, M.G.M.

    2006-01-01

    The increasing implementation of self-managing teams (SMTs) in service delivery suggests the importance of developing confidence beliefs about a team's collective competence. This research examined causality in the linkage between employee confidence beliefs and performance for boundary-spanning

  1. Phase-Division-Based Dynamic Optimization of Linkages for Drawing Servo Presses

    Zhang, Zhi-Gang; Wang, Li-Ping; Cao, Yan-Ke

    2017-11-01

    Existing linkage-optimization methods are designed for mechanical presses; few can be directly used for servo presses, so development of the servo press is limited. Based on the complementarity of linkage optimization and motion planning, a phase-division-based linkage-optimization model for a drawing servo press is established. Considering the motion-planning principles of a drawing servo press, and taking account of work rating and efficiency, the constraints of the optimization model are constructed. Linkage is optimized in two modes: use of either constant eccentric speed or constant slide speed in the work segments. The performances of optimized linkages are compared with those of a mature linkage SL4-2000A, which is optimized by a traditional method. The results show that the work rating of a drawing servo press equipped with linkages optimized by this new method improved and the root-mean-square torque of the servo motors is reduced by more than 10%. This research provides a promising method for designing energy-saving drawing servo presses with high work ratings.

  2. Performable Case Studies in Ethics Education.

    Robeson, Richard; King, Nancy M P

    2017-09-12

    Bioethics education often includes the study of short stories, novels, plays, and films, because such materials present case examples that can highlight relevant issues and questions especially vividly for a wide range of students. In addition, creative writing is widely used in the education of health professional students and in continuing education settings for health professionals. There are very few academic or professional disciplines that do not use case studies, but the case study in dialogic form has not been standard practice for thousands of years. Dramatic arts casuistry-the creation and performance of short case studies designed specifically to raise bioethics issues for discussion-represents an application of literature and the medical humanities that is both unique and uniquely valuable. This essay describes the development and history of a course that has been successfully taught to medical students and graduate bioethics students, in which the class researches, writes, and performs a case study designed to elicit reflection and discussion about a topic and set of bioethics issues of current interest to both academic and general audiences. The model is also suited to the presentation and discussion of existing case studies, both live and via on-demand audio.

  3. A genome-wide search for linkage of estimated glomerular filtration rate (eGFR in the Family Investigation of Nephropathy and Diabetes (FIND.

    Farook Thameem

    Full Text Available Estimated glomerular filtration rate (eGFR, a measure of kidney function, is heritable, suggesting that genes influence renal function. Genes that influence eGFR have been identified through genome-wide association studies. However, family-based linkage approaches may identify loci that explain a larger proportion of the heritability. This study used genome-wide linkage and association scans to identify quantitative trait loci (QTL that influence eGFR.Genome-wide linkage and sparse association scans of eGFR were performed in families ascertained by probands with advanced diabetic nephropathy (DN from the multi-ethnic Family Investigation of Nephropathy and Diabetes (FIND study. This study included 954 African Americans (AA, 781 American Indians (AI, 614 European Americans (EA and 1,611 Mexican Americans (MA. A total of 3,960 FIND participants were genotyped for 6,000 single nucleotide polymorphisms (SNPs using the Illumina Linkage IVb panel. GFR was estimated by the Modification of Diet in Renal Disease (MDRD formula.The non-parametric linkage analysis, accounting for the effects of diabetes duration and BMI, identified the strongest evidence for linkage of eGFR on chromosome 20q11 (log of the odds [LOD] = 3.34; P = 4.4 × 10(-5 in MA and chromosome 15q12 (LOD = 2.84; P = 1.5 × 10(-4 in EA. In all subjects, the strongest linkage signal for eGFR was detected on chromosome 10p12 (P = 5.5 × 10(-4 at 44 cM near marker rs1339048. A subsequent association scan in both ancestry-specific groups and the entire population identified several SNPs significantly associated with eGFR across the genome.The present study describes the localization of QTL influencing eGFR on 20q11 in MA, 15q21 in EA and 10p12 in the combined ethnic groups participating in the FIND study. Identification of causal genes/variants influencing eGFR, within these linkage and association loci, will open new avenues for functional analyses and development of novel diagnostic markers

  4. A genome-wide search for linkage of estimated glomerular filtration rate (eGFR) in the Family Investigation of Nephropathy and Diabetes (FIND).

    Thameem, Farook; Igo, Robert P; Freedman, Barry I; Langefeld, Carl; Hanson, Robert L; Schelling, Jeffrey R; Elston, Robert C; Duggirala, Ravindranath; Nicholas, Susanne B; Goddard, Katrina A B; Divers, Jasmin; Guo, Xiuqing; Ipp, Eli; Kimmel, Paul L; Meoni, Lucy A; Shah, Vallabh O; Smith, Michael W; Winkler, Cheryl A; Zager, Philip G; Knowler, William C; Nelson, Robert G; Pahl, Madeline V; Parekh, Rulan S; Kao, W H Linda; Rasooly, Rebekah S; Adler, Sharon G; Abboud, Hanna E; Iyengar, Sudha K; Sedor, John R

    2013-01-01

    Estimated glomerular filtration rate (eGFR), a measure of kidney function, is heritable, suggesting that genes influence renal function. Genes that influence eGFR have been identified through genome-wide association studies. However, family-based linkage approaches may identify loci that explain a larger proportion of the heritability. This study used genome-wide linkage and association scans to identify quantitative trait loci (QTL) that influence eGFR. Genome-wide linkage and sparse association scans of eGFR were performed in families ascertained by probands with advanced diabetic nephropathy (DN) from the multi-ethnic Family Investigation of Nephropathy and Diabetes (FIND) study. This study included 954 African Americans (AA), 781 American Indians (AI), 614 European Americans (EA) and 1,611 Mexican Americans (MA). A total of 3,960 FIND participants were genotyped for 6,000 single nucleotide polymorphisms (SNPs) using the Illumina Linkage IVb panel. GFR was estimated by the Modification of Diet in Renal Disease (MDRD) formula. The non-parametric linkage analysis, accounting for the effects of diabetes duration and BMI, identified the strongest evidence for linkage of eGFR on chromosome 20q11 (log of the odds [LOD] = 3.34; P = 4.4 × 10(-5)) in MA and chromosome 15q12 (LOD = 2.84; P = 1.5 × 10(-4)) in EA. In all subjects, the strongest linkage signal for eGFR was detected on chromosome 10p12 (P = 5.5 × 10(-4)) at 44 cM near marker rs1339048. A subsequent association scan in both ancestry-specific groups and the entire population identified several SNPs significantly associated with eGFR across the genome. The present study describes the localization of QTL influencing eGFR on 20q11 in MA, 15q21 in EA and 10p12 in the combined ethnic groups participating in the FIND study. Identification of causal genes/variants influencing eGFR, within these linkage and association loci, will open new avenues for functional analyses and development of novel diagnostic markers

  5. Detection of QTL for Carcass Quality on Chromosome 6 by Exploiting Linkage and Linkage Disequilibrium in Hanwoo

    J.-H. Lee

    2012-01-01

    Full Text Available The purpose of this study was to improve mapping power and resolution for the QTL influencing carcass quality in Hanwoo, which was previously detected on the bovine chromosome (BTA 6. A sample of 427 steers were chosen, which were the progeny from 45 Korean proven sires in the Hanwoo Improvement Center, Seosan, Korea. The samples were genotyped with the set of 2,535 SNPs on BTA6 that were imbedded in the Illumina bovine 50 k chip. A linkage disequilibrium variance component mapping (LDVCM method, which exploited both linkage between sires and their steers and population-wide linkage disequilibrium, was applied to detect QTL for four carcass quality traits. Fifteen QTL were detected at 0.1% comparison-wise level, for which five, three, five, and two QTL were associated with carcass weight (CWT, backfat thickness (BFT, longissimus dorsi muscle area (LMA, and marbling score (Marb, respectively. The number of QTL was greater compared with our previous results, in which twelve QTL for carcass quality were detected on the BTA6 in the same population by applying other linkage disequilibrium mapping approaches. One QTL for LMA was detected on the distal region (110,285,672 to 110,633,096 bp with the most significant evidence for linkage (p<10−5. Another QTL that was detected on the proximal region (33,596,515 to 33,897,434 bp was pleiotrophic, i.e. influencing CWT, BFT, and LMA. Our results suggest that the LDVCM is a good alternative method for QTL fine-mapping in detection and characterization of QTL.

  6. D0 central tracking chamber performance studies

    Pizzuto, D.

    1991-12-01

    The performance of the completed DO central tracking chamber was studied using cosmic rays at the State University of New York at Stony Brook. Also studied was a prototype tracking chamber identical in design to the completed DO tracking chamber. The prototype chamber was exposed to a collimated beam of 150 GeV pions at the Fermilab NWA test facility. Results indicate an RΦ tracking resolution compatible with the limitations imposed by physical considerations, excellent 2 track resolution, and a high track reconstruction efficiency along with a good rejection power against γ → e + e - events

  7. Linkage to chromosome 1p36 for attention-deficit/ hyperactivity disorder traits in school and home settings

    Zhou, K.; Asherson, P.; Sham, P.; Franke, B.; Anney, R.J.; Buitelaar, J.K.; Ebstein, R.; Gill, M.; Brookes, K; Buschgens, C.J.M.; Campbell, D.; Chen, W.; Christiansen, H.; Fliers, E.; Gabriëls, I.; Johansson, L.; Marco, R.; Mulas, F.; Müller, U.; Mulligan, A.; Neale, B.; Rijsdijk, F.; Rommelse, N.N.J.; Uebel, H.; Psychogiou, L.; Xu, X.; Banaschewski, T.; Sonuga-Barke, E.; Eisenberg, J.; Manor, I.; Miranda, A.; Oades, R.D.; Roeyers, H.; Rothenberger, A.; Sergeant, J.A.; Steinhausen, H.C.; Taylor, E.; Thompson, M.; Faraone, S.V.

    2008-01-01

    Background: Limited success has been achieved through previous attention-deficit/hyperactivity disorder (ADHD) linkage scans, which were all designed to map genes underlying the dichotomous phenotype. The International Multi-centre ADHD Genetics (IMAGE) project performed a whole genome linkage scan

  8. Performance study of thermo-electric generator

    Rohit, G.; Manaswini, D.; Kotebavi, Vinod; R, Nagaraja S.

    2017-07-01

    Devices like automobiles, stoves, ovens, boilers, kilns and heaters dissipate large amount of waste heat. Since most of this waste heat goes unused, the efficiency of these devices is drastically reduced. A lot of research is being conducted on the recovery of the waste heat, among which Thermoelectric Generators (TEG) is one of the popular method. TEG is a semiconductor device that produces electric potential difference when a thermal gradient develops on it. This paper deals with the study of performance of a TEG module for different hot surface temperatures. Performance characteristics used here are voltage, current and power developed by the TEG. One side of the TEG was kept on a hot plate where uniform heat flux was supplied to that. And the other side was cooled by supplying cold water. The results show that the output power increases significantly with increase in the temperature of the hot surface.

  9. Study on dynamic performance of SOFC

    Zhan, Haiyang; Liang, Qianchao; Wen, Qiang; Zhu, Runkai

    2017-05-01

    In order to solve the problem of real-time matching of load and fuel cell power, it is urgent to study the dynamic response process of SOFC in the case of load mutation. The mathematical model of SOFC is constructed, and its performance is simulated. The model consider the influence factors such as polarization effect, ohmic loss. It also takes the diffusion effect, thermal effect, energy exchange, mass conservation, momentum conservation. One dimensional dynamic mathematical model of SOFC is constructed by using distributed lumped parameter method. The simulation results show that the I-V characteristic curves are in good agreement with the experimental data, and the accuracy of the model is verified. The voltage response curve, power response curve and the efficiency curve are obtained by this way. It lays a solid foundation for the research of dynamic performance and optimal control in power generation system of high power fuel cell stack.

  10. Risk and associated risk factors of hospitalization for specific health problems over time in childhood cancer survivors : a medical record linkage study

    Font-Gonzalez, Anna; Feijen, Elizabeth Lieke A.M.; Geskus, Ronald B; Dijkgraaf, Marcel G. W.; van der Pal, Helena J.H.; Heinen, Richard C.; Jaspers, Monique W; van Leeuwen, Flora E.; Reitsma, J. B.Johannes; Caron, Hubert N; Sieswerda, Elske; Kremer, Leontien C M

    2017-01-01

    Childhood cancer survivors (CCS) experience higher hospitalization rates compared to the general population for neoplasms, circulatory diseases, endocrine/nutritional/metabolic diseases and eye disorders. We studied trends in hospitalization rates and associated patient and treatment-specific risk

  11. Familial aggregation and linkage analysis with covariates for metabolic syndrome risk factors.

    Naseri, Parisa; Khodakarim, Soheila; Guity, Kamran; Daneshpour, Maryam S

    2018-06-15

    Mechanisms of metabolic syndrome (MetS) causation are complex, genetic and environmental factors are important factors for the pathogenesis of MetS In this study, we aimed to evaluate familial and genetic influences on metabolic syndrome risk factor and also assess association between FTO (rs1558902 and rs7202116) and CETP(rs1864163) genes' single nucleotide polymorphisms (SNP) with low HDL_C in the Tehran Lipid and Glucose Study (TLGS). The design was a cross-sectional study of 1776 members of 227 randomly-ascertained families. Selected families contained at least one affected metabolic syndrome and at least two members of the family had suffered a loss of HDL_C according to ATP III criteria. In this study, after confirming the familial aggregation with intra-trait correlation coefficients (ICC) of Metabolic syndrome (MetS) and the quantitative lipid traits, the genetic linkage analysis of HDL_C was performed using conditional logistic method with adjusted sex and age. The results of the aggregation analysis revealed a higher correlation between siblings than between parent-offspring pairs representing the role of genetic factors in MetS. In addition, the conditional logistic model with covariates showed that the linkage results between HDL_C and three marker, rs1558902, rs7202116 and rs1864163 were significant. In summary, a high risk of MetS was found in siblings confirming the genetic influences of metabolic syndrome risk factor. Moreover, the power to detect linkage increases in the one parameter conditional logistic model regarding the use of age and sex as covariates. Copyright © 2018. Published by Elsevier B.V.

  12. Dimensional threshold for fracture linkage and hooking

    Lamarche, Juliette; Chabani, Arezki; Gauthier, Bertrand D. M.

    2018-03-01

    Fracture connectivity in rocks depends on spatial properties of the pattern including length, abundance and orientation. When fractures form a single-strike set, they hardly cross-cut each other and the connectivity is limited. Linkage probability increases with increasing fracture abundance and length as small fractures connect to each other to form longer ones. A process for parallel fracture linkage is the "hooking", where two converging fracture tips mutually deviate and then converge to connect due to the interaction of their crack-tip stresses. Quantifying the processes and conditions for fracture linkage in single-strike fracture sets is crucial to better predicting fluid flow in Naturally Fractured Reservoirs. For 1734 fractures in Permian shales of the Lodève Basin, SE France, we measured geometrical parameters in 2D, characterizing three stages of the hooking process: underlapping, overlapping and linkage. We deciphered the threshold values, shape ratios and limiting conditions to switch from one stage to another one. The hook set up depends on the spacing (S) and fracture length (Lh) with the relation S ≈ 0.15 Lh. Once the hooking is initiated, with the fracture deviation length (L) L ≈ 0.4 Lh, the fractures reaches the linkage stage only when the spacing is reduced to S ≈ 0.02 Lh and the convergence (C) is < 0.1 L. These conditions apply to multi-scale fractures with a shape ratio L/S = 10 and for fracture curvature of 10°-20°.

  13. Package performance study: developments since PATRAM 13

    Tegeler, B.; Snyder, A.; Lewis, R.; Sorenson, K.

    2004-01-01

    The United States Nuclear Regulatory Commission (NRC) initiated a research program in 1999 to study the response of spent nuclear fuel transportation casks to extreme accident conditions. This confirmatory research program is called the Package Performance Study (PPS) and is founded on an enhanced public participatory process that is used to obtain public comments throughout all project phases. The study objectives are to: 1) assess the analysis tools and methods used to predict spent nuclear fuel transportation cask response to extreme mechanical and thermal environments, and 2) demonstrate the inherent safety in spent fuel cask design. Public outreach is a significant element in both of these objectives. The NRC Commission recently approved the full-scale testing of a single NRC certified spent nuclear fuel rail transportation cask. To satisfy Commission direction, NRC staff has developed, for Commission approval, detailed test plans for conducting a full-scale demonstration test on a spent fuel rail transportation cask. The staff proposes to perform a demonstration test involving the collision of a locomotive with a rail cask attached to a conveyance (i.e., railcar) and a subsequent fire test. Further, the staff plans to conduct detailed pre and post -test analysis to compare numerical calculations with data obtained from the test. This paper discusses the process for selection of this scenario and the uncertainties associated with demonstration testing and analysis predictions. The staff's proposal is currently under review by the Commission

  14. Package performance study: developments since PATRAM 13

    Tegeler, B.; Snyder, A.; Lewis, R. [U.S. Nuclear Regulatory Commission, Washington, DC (United States); Sorenson, K. [Sandia National Labs., Albuquerque, NM (United States)

    2004-07-01

    The United States Nuclear Regulatory Commission (NRC) initiated a research program in 1999 to study the response of spent nuclear fuel transportation casks to extreme accident conditions. This confirmatory research program is called the Package Performance Study (PPS) and is founded on an enhanced public participatory process that is used to obtain public comments throughout all project phases. The study objectives are to: 1) assess the analysis tools and methods used to predict spent nuclear fuel transportation cask response to extreme mechanical and thermal environments, and 2) demonstrate the inherent safety in spent fuel cask design. Public outreach is a significant element in both of these objectives. The NRC Commission recently approved the full-scale testing of a single NRC certified spent nuclear fuel rail transportation cask. To satisfy Commission direction, NRC staff has developed, for Commission approval, detailed test plans for conducting a full-scale demonstration test on a spent fuel rail transportation cask. The staff proposes to perform a demonstration test involving the collision of a locomotive with a rail cask attached to a conveyance (i.e., railcar) and a subsequent fire test. Further, the staff plans to conduct detailed pre and post -test analysis to compare numerical calculations with data obtained from the test. This paper discusses the process for selection of this scenario and the uncertainties associated with demonstration testing and analysis predictions. The staff's proposal is currently under review by the Commission.

  15. Associations between parental chronic pain and self-esteem, social competence, and family cohesion in adolescent girls and boys--family linkage data from the HUNT study.

    Kaasbøll, Jannike; Ranøyen, Ingunn; Nilsen, Wendy; Lydersen, Stian; Indredavik, Marit S

    2015-08-22

    Parental chronic pain has been associated with adverse outcomes in offspring. However, knowledge on individual and family resilience factors in adolescent offspring of chronic pain sufferers is scarce. This study thus aimed to investigate the associations between parental chronic pain and self-esteem, social competence, and family cohesion levels reported by adolescent girls and boys. Based on cross-sectional surveys from the Nord Trøndelag Health Study (the HUNT 3 study), the study used independent self-reports from adolescents aged 13 to 18 years (n = 3227) and their parents and conducted separate linear regression analyses for girls and boys. Concurrent maternal and paternal chronic pain was associated with reduced self-esteem, social competence, and family cohesion in girls. Moreover, maternal chronic pain was associated with higher social competence in boys and reduced self-esteem in girls. The majority of the observed associations were significantly different between girls and boys. Paternal chronic pain was not found to be associated with child outcomes. The findings indicate that the presence of both maternal and paternal chronic pain could be a potential risk factor for lower levels of individual and family resilience factors reported by girls. Further research on the relationship between parental pain and sex-specific offspring characteristics, including positive resilience factors, is warranted. The study demonstrates the importance of targeting the entire family in chronic pain care.

  16. Detecting Recombination Hotspots from Patterns of Linkage Disequilibrium.

    Wall, Jeffrey D; Stevison, Laurie S

    2016-08-09

    With recent advances in DNA sequencing technologies, it has become increasingly easy to use whole-genome sequencing of unrelated individuals to assay patterns of linkage disequilibrium (LD) across the genome. One type of analysis that is commonly performed is to estimate local recombination rates and identify recombination hotspots from patterns of LD. One method for detecting recombination hotspots, LDhot, has been used in a handful of species to further our understanding of the basic biology of recombination. For the most part, the effectiveness of this method (e.g., power and false positive rate) is unknown. In this study, we run extensive simulations to compare the effectiveness of three different implementations of LDhot. We find large differences in the power and false positive rates of these different approaches, as well as a strong sensitivity to the window size used (with smaller window sizes leading to more accurate estimation of hotspot locations). We also compared our LDhot simulation results with comparable simulation results obtained from a Bayesian maximum-likelihood approach for identifying hotspots. Surprisingly, we found that the latter computationally intensive approach had substantially lower power over the parameter values considered in our simulations. Copyright © 2016 Wall and Stevison.

  17. Study on performance of centripetal fan, 1

    Ejiri, Eiji; Shirakura, Masaaki; Tagori, Tetsuo; Enomoto, Hisao.

    1984-01-01

    Centripetal fans are radial flow type fans which gather air from outer side into inner side. The construction is simple, and when heat exchangers are arranged around them, cooled air can be discharged upward only by connecting simple ducts, accordingly, centripetal fans are suitable to the ventilating fans for superlarge cooling towers of nuclear power plants. The static pressure rise is obtained only by the diffuser action of impellers, therefore, they are not suitable to pumps and compressors, and their use is limited only to fans. Centrifugal force exerts negative effect on static pressure rise, accordingly, the ratio of internal diameter/external diameter of impellers cannot be made very small. In this study, a small model with impeller diameter of 0.6 m was used, and its overall performance, the performance of moving blades in the range of stable operation, the rotating stall characteristics in the region of low flow rate, and the effect of side wind on the overall performance in outdoor use were examined. By changing the angle of inclination of entrance guide vanes, the range of stable operation was expanded, and the pressure coefficient and efficiency were increased. (Kako, I.)

  18. Studies on denitrification performance of tricking filters

    Ruediger, A.

    1993-01-01

    Trickling filters are one of the oldest methods of biological waste water purification, widely used ever since they were first developed. These filters are mostly used for aerobic purification of water as highly polluted or lightly polluted reactors. While these systems are very useful for the elemination of organic pollution and the nitrification of the waste waters, denitrification of the whole plant poses considerable problems. The question is in how far trickling filters can be used as denitrification reactors. The conditions of successful denitrification in trickling filters is investigated, denitrification performance is established. Studies were conducted in laboratory, semi-industrial and industrial scale. (BBR) [de

  19. Multi-scale linkages of winter drought variability to ENSO and the Arctic Oscillation: A case study in Shaanxi, North China

    Liu, Zhiyong; Zhang, Xin; Fang, Ruihong

    2018-02-01

    Understanding the potential connections between climate indices such as the El Niño-Southern Oscillation (ENSO) and Arctic Oscillation (AO) and drought variability will be beneficial for making reasonable predictions or assumptions about future regional droughts, and provide valuable information to improve water resources planning and design for specific regions of interest. This study is to examine the multi-scale relationships between winter drought variability over Shaanxi (North China) and both ENSO and AO during the period 1960-2009. To accomplish this, we first estimated winter dryness/wetness conditions over Shaanxi based on the self-calibrating Palmer drought severity index (PDSI). Then, we identified the spatiotemporal variability of winter dryness/wetness conditions in the study area by using the empirical orthogonal function (EOF). Two primary sub-regions of winter dryness/wetness conditions across Shaanxi were identified. We further examined the periodical oscillations of dryness/wetness conditions and the multi-scale relationships between dryness/wetness conditions and both ENSO and AO in winter using wavelet analysis. The results indicate that there are inverse multi-scale relations between winter dryness/wetness conditions and ENSO (according to the wavelet coherence) for most of the study area. Moreover, positive multi-scale relations between winter dryness/wetness conditions and AO are mainly observed. The results could be beneficial for making reasonable predictions or assumptions about future regional droughts and provide valuable information to improve water resources planning and design within this study area. In addition to the current study area, this study may also offer a useful reference for other regions worldwide with similar climate conditions.

  20. A Person-Centered Approach to Studying the Linkages among Parent-Child Differences in Cultural Orientation, Supportive Parenting, and Adolescent Depressive Symptoms in Chinese American Families

    Weaver, Scott R.; Kim, Su Yeong

    2008-01-01

    This longitudinal study examined whether supportive parenting mediates relations between parent-child differences in cultural orientation (generational dissonance) and depressive symptoms with a sample of 451 first and second generation Chinese American parents and adolescents (12-15 years old at time 1). Using a person-centered approach,…

  1. Nationwide individual record linkage study showed poor agreement of causes of death and hospital diagnoses at individual level but reasonable agreement at population level

    Klijs, Bart; Nusselder, Wilma J.; Mackenbach, Johan P.

    Objectives: To investigate to what extent underlying and multiple causes of death represent end-of-life morbidity in individuals and at population level. Study Design and Setting: Cause of death and national hospital data were individually linked for all deaths at the age of 50-84 years, in 2005 in

  2. Economic openness and trade linkages of China : An empirical study of the determinants of Chinese trade intensities from 1993 to 1999

    Zhang, JH; van Witteloostuijn, A

    2004-01-01

    In the 1980s, the Chinese regime took a number of piecemeal steps toward economic liberalization. This process accelerated impressively in the 1990s. This paper reports an empirical study into the determinants of the emerging pattern of Chinese trade (export and import) intensities in the

  3. Linear models for joint association and linkage QTL mapping

    Fernando Rohan L

    2009-09-01

    Full Text Available Abstract Background Populational linkage disequilibrium and within-family linkage are commonly used for QTL mapping and marker assisted selection. The combination of both results in more robust and accurate locations of the QTL, but models proposed so far have been either single marker, complex in practice or well fit to a particular family structure. Results We herein present linear model theory to come up with additive effects of the QTL alleles in any member of a general pedigree, conditional to observed markers and pedigree, accounting for possible linkage disequilibrium among QTLs and markers. The model is based on association analysis in the founders; further, the additive effect of the QTLs transmitted to the descendants is a weighted (by the probabilities of transmission average of the substitution effects of founders' haplotypes. The model allows for non-complete linkage disequilibrium QTL-markers in the founders. Two submodels are presented: a simple and easy to implement Haley-Knott type regression for half-sib families, and a general mixed (variance component model for general pedigrees. The model can use information from all markers. The performance of the regression method is compared by simulation with a more complex IBD method by Meuwissen and Goddard. Numerical examples are provided. Conclusion The linear model theory provides a useful framework for QTL mapping with dense marker maps. Results show similar accuracies but a bias of the IBD method towards the center of the region. Computations for the linear regression model are extremely simple, in contrast with IBD methods. Extensions of the model to genomic selection and multi-QTL mapping are straightforward.

  4. Linkages at Tourism Destinations: Challenges in Zanzibar

    Wineaster Anderson

    2011-06-01

    Full Text Available This study explores challenges facing the linkages between the tourism industry and local suppliers at the destinations. During 2010 surveys involving hotel and restaurant operators, local suppliers and tourists were conducted in Zanzibar. Qualitative analysis of the perspectives of the respondents reveals the multitude of constraints. From operators, the main constraints include poor quality of the locally supplied products, business informalities, high transaction costs and violation of agreements by local suppliers. Low production levels, low prices offered by hotels and restaurants coupled with late payments for the products delivered were the most serious problems cited by local suppliers. There is also a certain degree of mistrust between the local suppliers and the operators. However, the source of the tourism products consumed in the hotels or restaurants was not a point of concern, at least from the tourists’ perspective. Strategies to bridge the demandsupply gaps in order to maximize the benefits of tourism, among the tools for fighting the rampant poverty, have been recommended.

  5. The joint contribution of pain and insomnia to sickness absence and disability retirement: a register-linkage study among Norwegian and Finnish employees.

    Lallukka, T; Øverland, S; Haaramo, P; Saastamoinen, P; Bjorvatn, B; Sivertsen, B

    2014-07-01

    Pain and insomnia are both independently associated with work disability. Although pain and insomnia often co-occur, their joint associations with subsequent sickness absence and disability retirement have not been studied. We aimed to examine these associations in two prospective occupational cohorts while considering key covariates. Norwegian Hordaland Health Study (n = 6892, 59% women) and Finnish Helsinki Health Study (n = 6060, 78% women) data were used. Those with only pain, only insomnia or both conditions at baseline were compared with those with no pain and no insomnia. Work disability outcomes were derived from national and employers' register data. Medically certified sickness absence spells lasting 2 weeks or more and all-cause disability retirement were examined. Register-based follow-up was 4 years for sickness absence and 5 years for disability retirement. Covariates were sex, age, marital status, education, smoking, alcohol use, body mass index and blood pressure. Poisson and Cox regression models were fitted. Both pain and insomnia were associated with subsequent sickness absence and disability retirement, but the associations were stronger for those reporting co-morbid pain and insomnia with support for a synergistic interaction effect, particularly regarding disability retirement. The associations were largely similar in both cohorts and remained after full adjustments. This study is the first to report the separate and combined effects of pain and insomnia on objective health outcomes. Common patterns observed in two separate cohorts suggest that the combination of pain and insomnia might be particularly relevant for subsequent disability retirement. © 2013 European Pain Federation - EFIC®

  6. Waste package performance allocation system study report

    Memory, R.D.

    1994-01-01

    The Waste Package Performance Allocation system study was performed in order to provide a technical basis for the selection of the waste package period of substantially complete containment and its resultant contribution to the overall total system performance. This study began with a reference case based on the current Mined Geologic Disposal System (MGDS) baseline design and added a number of alternative designs. The waste package designs were selected from the designs being considered in detail during Advanced Conceptual Design (ACD). The waste packages considered were multi-barrier packages with a 0.95 cm Alloy 825 inner barrier and a 10, 20, or 45 cm thick carbon steel outer barrier. The waste package capacities varied from 6 to 12 to 21 Pressurized Water Reactor (PWR) fuel assemblies. The vertical borehole and in-drift emplacement modes were also considered, as were thermal loadings of 25, 57, and 114 kW/acre. The repository cost analysis indicated that the 21 PWR in-drift emplacement mode option with the 10 cm and 20 cm outer barrier thicknesses are the least expensive and that the 12 PWR in-drift case has approximately the same cost as the 6 PWR vertical borehole. It was also found that the cost increase from the 10 cm outer barrier waste package to the 20 cm waste package was less per centimeter than the increase from the 20 cm outer barrier waste package to the 45 cm outer barrier waste package. However, the repository cost was nearly linear with the outer barrier thickness for the 21 PWR in-drift case. Finally, corrosion rate estimates are provided and the relationship of repository cost versus waste package lifetime is discussed as is cumulative radionuclide release from the waste package and to the accessible environment for time periods of 10,000 years and 100,000 years

  7. Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population

    Arenas, I. A.; Tremblay, J.; Deslauriers, B.; Sandoval, J.; Šeda, O.; Gaudet, D.; Merlo, E.; Kotchen, T.; Cowley, A. W.

    2013-01-01

    Blood pressure (BP) is a dynamic phenotype that varies rapidly to adjust to changing environmental conditions. Standing upright is a recent evolutionary trait, and genetic factors that influence postural adaptations may contribute to BP variability. We studied the effect of posture on the genetics of BP and intermediate BP phenotypes. We included 384 sib-pairs in 64 sib-ships from families ascertained by early-onset hypertension and dyslipidemia. Blood pressure, three hemodynamic and seven neuroendocrine intermediate BP phenotypes were measured with subjects lying supine and standing upright. The effect of posture on estimates of heritability and genetic covariance was investigated in full pedigrees. Linkage was conducted on 196 candidate genes by sib-pair analyses, and empirical estimates of significance were obtained. A permutation algorithm was implemented to study the postural effect on linkage. ADRA1A, APO, CAST, CORIN, CRHR1, EDNRB, FGF2, GC, GJA1, KCNB2, MMP3, NPY, NR3C2, PLN, TGFBR2, TNFRSF6, and TRHR showed evidence of linkage with any phenotype in the supine position and not upon standing, whereas AKR1B1, CD36, EDNRA, F5, MMP9, PKD2, PON1, PPARG, PPARGC1A, PRKCA, and RET were specifically linked to standing phenotypes. Genetic profiling was undertaken to show genetic interactions among intermediate BP phenotypes and genes specific to each posture. When investigators perform genetic studies exclusively on a single posture, important genetic components of BP are missed. Supine and standing BPs have distinct genetic signatures. Standardized maneuvers influence the results of genetic investigations into BP, thus reflecting its dynamic regulation. PMID:23269701

  8. Intragroup emotions: physiological linkage and social presence

    Simo eJärvelä

    2016-02-01

    Full Text Available We investigated how technologically mediating two different components of emotion – communicative expression and physiological state – to group members affects physiological linkage and self-reported feelings in a small group during video viewing. In different conditions the availability of second screen text chat (communicative expression and visualization of group level physiological heart rates and their dyadic linkage (physiology was varied. Within this four person group two participants formed a physically co-located dyad and the other two were individually situated in two separate rooms. We found that text chat always increased heart rate synchrony but HR visualization only with non-co-located dyads. We also found that physiological linkage was strongly connected to self-reported social presence. The results encourage further exploration of the possibilities of sharing group member’s physiological components of emotion by technological means to enhance mediated communication and strengthen social presence.

  9. Intragroup Emotions: Physiological Linkage and Social Presence.

    Järvelä, Simo; Kätsyri, Jari; Ravaja, Niklas; Chanel, Guillaume; Henttonen, Pentti

    2016-01-01

    We investigated how technologically mediating two different components of emotion-communicative expression and physiological state-to group members affects physiological linkage and self-reported feelings in a small group during video viewing. In different conditions the availability of second screen text chat (communicative expression) and visualization of group level physiological heart rates and their dyadic linkage (physiology) was varied. Within this four person group two participants formed a physically co-located dyad and the other two were individually situated in two separate rooms. We found that text chat always increased heart rate synchrony but HR visualization only with non-co-located dyads. We also found that physiological linkage was strongly connected to self-reported social presence. The results encourage further exploration of the possibilities of sharing group member's physiological components of emotion by technological means to enhance mediated communication and strengthen social presence.

  10. Intragroup Emotions: Physiological Linkage and Social Presence

    Järvelä, Simo; Kätsyri, Jari; Ravaja, Niklas; Chanel, Guillaume; Henttonen, Pentti

    2016-01-01

    We investigated how technologically mediating two different components of emotion—communicative expression and physiological state—to group members affects physiological linkage and self-reported feelings in a small group during video viewing. In different conditions the availability of second screen text chat (communicative expression) and visualization of group level physiological heart rates and their dyadic linkage (physiology) was varied. Within this four person group two participants formed a physically co-located dyad and the other two were individually situated in two separate rooms. We found that text chat always increased heart rate synchrony but HR visualization only with non-co-located dyads. We also found that physiological linkage was strongly connected to self-reported social presence. The results encourage further exploration of the possibilities of sharing group member's physiological components of emotion by technological means to enhance mediated communication and strengthen social presence. PMID:26903913

  11. Linkage Disequilibrium between STRPs and SNPs across the Human Genome

    Payseur, Bret A.; Place, Michael; Weber, James L.

    2008-01-01

    Patterns of linkage disequilibrium (LD) reveal the action of evolutionary processes and provide crucial information for association mapping of disease genes. Although recent studies have described the landscape of LD among single nucleotide polymorphisms (SNPs) from across the human genome, associations involving other classes of molecular variation remain poorly understood. In addition to recombination and population history, mutation rate and process are expected to shape LD. To test this i...

  12. Using Linkage Maps as a Tool To Determine Patterns of Chromosome Synteny in the Genus Salvelinus

    Matthew C. Hale

    2017-11-01

    Full Text Available Next generation sequencing techniques have revolutionized the collection of genome and transcriptome data from nonmodel organisms. This manuscript details the application of restriction site-associated DNA sequencing (RADseq to generate a marker-dense genetic map for Brook Trout (Salvelinus fontinalis. The consensus map was constructed from three full-sib families totaling 176 F1 individuals. The map consisted of 42 linkage groups with a total female map size of 2502.5 cM, and a total male map size of 1863.8 cM. Synteny was confirmed with Atlantic Salmon for 38 linkage groups, with Rainbow Trout for 37 linkage groups, Arctic Char for 36 linkage groups, and with a previously published Brook Trout linkage map for 39 linkage groups. Comparative mapping confirmed the presence of 8 metacentric and 34 acrocentric chromosomes in Brook Trout. Six metacentric chromosomes seem to be conserved with Arctic Char suggesting there have been at least two species-specific fusion and fission events within the genus Salvelinus. In addition, the sex marker (sdY; sexually dimorphic on the Y chromosome was mapped to Brook Trout BC35, which is homologous with Atlantic Salmon Ssa09qa, Rainbow Trout Omy25, and Arctic Char AC04q. Ultimately, this linkage map will be a useful resource for studies on the genome organization of Salvelinus, and facilitates comparisons of the Salvelinus genome with Salmo and Oncorhynchus.

  13. Contribution to the study of degradation products of spent fuel reprocessing solvents using mass spectroscopy, its different linkages and by the use of stable isotopes

    Lesage, Denis

    1995-01-01

    Tributylphosphate (TBP) is used as an extraction solvent in nuclear fuel reprocessing. The presence of uranium fission products leads to the formation of a large variety of organic compounds resulting from radiolytic degradation of TBP. Some of these compounds can complex metallic cations, and as a result, to decrease nuclear fuel extraction yields. In this work we have studied by tandem mass spectrometry the fragmentation mechanisms of different TBP and their dimers. These molecules are interesting because of the similarity of their structures to other more complex molecules formed by irradiation (functionalized TBP and TBP dimers). This work allowed to identify mixtures of degradation products and relate their structures to radiolytic mechanisms. Ail these results, including structure determination and formation mechanisms, have been validated by using specifically labeled compounds (deuterium, oxygen 18, nitrogen 15). (author) [fr

  14. Saving lives, money and resources: drug and CABG/PCI use after myocardial infarction in a Swedish record-linkage study.

    Wilhelmsen, Lars; Welin, Lennart; Odén, Anders; Björnberg, Arne

    2010-04-01

    Drug costs are increasing despite the introduction of cheaper generic drugs. The aim of the present study was to analyse the entire costs of hospital care, out-patient care, and the cost of drugs for 16 months following a myocardial infarction (MI) to see to what extent drug costs contribute to the overall costs of care. Diagnoses and costs for care as well as mortality data obtained from the Västra Götaland Region, Sweden, and drug costs from the Swedish Board of Health and Welfare, were merged in a computer file. Patients registered from 1 July 2005 to 30 June 2006 were followed from 28 days after an MI, with follow-up until 31 October 2006. Of 4,725 patients, 711 died before the start of the study and 721 during follow-up. Higher age [hazard ratio (HR, 95%CI) = 1.06 (1.05-1.07)], previous MI [HR = 1.31 (1.13-1.53)] and diabetes mellitus [HR = 1.34 (1.13-1.58)] were associated with increased mortality, which decreased with coronary interventions: CABG/PCI [HR = 0.19 (0.14-0.27)]. In a multivariable analysis, mortality was lower for patients taking simvastatin [HR = 0.62 (0.50-0.76)] and clopidogrel [HR = 0.58 (0.46-0.74)]. Costs for out-patient care accounted for 25% and drugs for 5% of total costs. If patients not treated with simvastatin or clopidogrel had received these drugs, an additional 154-306 lives might have been saved. Drug costs would be higher, but total costs lower. Thus, even expensive drugs may reduce overall costs.

  15. Physical and mental health functioning after all-cause and diagnosis-specific sickness absence: a register-linkage follow-up study among ageing employees

    Minna Mänty

    2017-01-01

    Full Text Available Abstract Background Sickness absence has been shown to be a risk marker for severe future health outcomes, such as disability retirement and premature death. However, it is poorly understood how all-cause and diagnosis-specific sickness absence is reflected in subsequent physical and mental health functioning over time. The aim of this study was to examine the association of all-cause and diagnosis-specific sickness absence with subsequent changes in physical and mental health functioning among ageing municipal employees. Methods Prospective survey and register data from the Finnish Helsinki Health Study and the Social Insurance Institution of Finland were used. Register based records for medically certified all-cause and diagnostic-specific sickness absence spells (>14 consecutive calendar days in 2004–2007 were examined in relation to subsequent physical and mental health functioning measured by Short-Form 36 questionnaire in 2007 and 2012. In total, 3079 respondents who were continuously employed over the sickness absence follow-up were included in the analyses. Repeated-measures analysis was used to examine the associations. Results During the 3-year follow-up, 30% of the participants had at least one spell of medically certified sickness absence. All-cause sickness absence was associated with lower subsequent physical and mental health functioning in a stepwise manner: the more absence days, the poorer the subsequent physical and mental health functioning. These differences remained but narrowed slightly during the follow-up. Furthermore, the adverse association for physical health functioning was strongest among those with sickness absence due to diseases of musculoskeletal or respiratory systems, and on mental functioning among those with sickness absence due to mental disorders. Conclusions Sickness absence showed a persistent adverse stepwise association with subsequent physical and mental health functioning. Evidence on health

  16. Physical and mental health functioning after all-cause and diagnosis-specific sickness absence: a register-linkage follow-up study among ageing employees.

    Mänty, Minna; Lallukka, Tea; Lahti, Jouni; Pietiläinen, Olli; Laaksonen, Mikko; Lahelma, Eero; Rahkonen, Ossi

    2017-01-25

    Sickness absence has been shown to be a risk marker for severe future health outcomes, such as disability retirement and premature death. However, it is poorly understood how all-cause and diagnosis-specific sickness absence is reflected in subsequent physical and mental health functioning over time. The aim of this study was to examine the association of all-cause and diagnosis-specific sickness absence with subsequent changes in physical and mental health functioning among ageing municipal employees. Prospective survey and register data from the Finnish Helsinki Health Study and the Social Insurance Institution of Finland were used. Register based records for medically certified all-cause and diagnostic-specific sickness absence spells (>14 consecutive calendar days) in 2004-2007 were examined in relation to subsequent physical and mental health functioning measured by Short-Form 36 questionnaire in 2007 and 2012. In total, 3079 respondents who were continuously employed over the sickness absence follow-up were included in the analyses. Repeated-measures analysis was used to examine the associations. During the 3-year follow-up, 30% of the participants had at least one spell of medically certified sickness absence. All-cause sickness absence was associated with lower subsequent physical and mental health functioning in a stepwise manner: the more absence days, the poorer the subsequent physical and mental health functioning. These differences remained but narrowed slightly during the follow-up. Furthermore, the adverse association for physical health functioning was strongest among those with sickness absence due to diseases of musculoskeletal or respiratory systems, and on mental functioning among those with sickness absence due to mental disorders. Sickness absence showed a persistent adverse stepwise association with subsequent physical and mental health functioning. Evidence on health-related outcomes after long-term sickness absence may provide useful

  17. Exploring the effects of transfers and readmissions on trends in population counts of hospital admissions for coronary heart disease: a Western Australian data linkage study.

    Lopez, Derrick; Nedkoff, Lee; Knuiman, Matthew; Hobbs, Michael S T; Briffa, Thomas G; Preen, David B; Hung, Joseph; Beilby, John; Mathur, Sushma; Reynolds, Anna; Sanfilippo, Frank M

    2017-11-17

    To develop a method for categorising coronary heart disease (CHD) subtype in linked data accounting for different CHD diagnoses across records, and to compare hospital admission numbers and ratios of unlinked versus linked data for each CHD subtype over time, and across age groups and sex. Cohort study. Person-linked hospital administrative data covering all admissions for CHD in Western Australia from 1988 to 2013. Ratios of (1) unlinked admission counts to contiguous admission (CA) counts (accounting for transfers), and (2) 28-day episode counts (accounting for transfers and readmissions) to CA counts stratified by CHD subtype, sex and age group. In all CHD subtypes, the ratios changed in a linear or quadratic fashion over time and the coefficients of the trend term differed across CHD subtypes. Furthermore, for many CHD subtypes the ratios also differed by age group and sex. For example, in women aged 35-54 years, the ratio of unlinked to CA counts for non-ST elevation myocardial infarction admissions in 2000 was 1.10, and this increased in a linear fashion to 1.30 in 2013, representing an annual increase of 0.0148. The use of unlinked counts in epidemiological estimates of CHD hospitalisations overestimates CHD counts. The CA and 28-day episode counts are more aligned with epidemiological studies of CHD. The degree of overestimation of counts using only unlinked counts varies in a complex manner with CHD subtype, time, sex and age group, and it is not possible to apply a simple correction factor to counts obtained from unlinked data. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  18. Maternal alcohol use disorder and child school attendance outcomes for non-Indigenous and Indigenous children in Western Australia: a population cohort record linkage study.

    Hafekost, Katherine; Lawrence, David; O'Leary, Colleen; Bower, Carol; Semmens, James; Zubrick, Stephen R

    2017-07-11

    Examine the relationship between maternal alcohol use disorder and child school attendance outcomes for non-Indigenous and Indigenous children in Western Australia. Population cohort study. Routinely collected linked administrative health, education and child protection data. Those in-scope for the study were women with a birth recorded on the Western Australian Midwives Notification System (1989-2007). Women who had an alcohol-related diagnosis (International Classification of Diseases Revisions 9/10) recorded on the Hospital Morbidity, Mental Health Inpatients and Outpatients, and Drug and Alcohol Office data sets formed the exposed group. The comparison cohort was frequency-matched to the exposed cohort based on maternal age within Indigenous status and child's year of birth. Child's school attendance was obtained from the Department of Education (2008-2012). Poor attendance was defined as alcohol use disorder was significantly associated with increased odds of poor attendance (non-Indigenous: OR=1.61, 95% CI 1.50 to 1.74; Indigenous: OR=1.66, 95% CI 1.54 to 1.79). With adjustment for maternal and child factors, there was no significant difference between the timing of alcohol diagnosis relative to pregnancy and attendance outcomes. The population attributable fraction was higher in the Indigenous cohort than the non-Indigenous cohort (6.0% vs 1.3%). Maternal alcohol use disorder was associated with a significantly increased odds of poor school attendance for non-Indigenous and Indigenous children. There was no significant difference between the timing of diagnoses and odds of poor school attendance. This suggests that the effect of maternal alcohol use disorder may not be driven by the neurodevelopmental effects of alcohol exposure in utero, but may be mediated through family or social factors for which we were unable to adjust. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No

  19. Does the 'Scottish effect' apply to all ethnic groups? All-cancer, lung, colorectal, breast and prostate cancer in the Scottish Health and Ethnicity Linkage Cohort Study.

    Bhopal, Raj S; Bansal, Narinder; Steiner, Markus; Brewster, David H

    2012-01-01

    Although ethnic group variations in cancer exist, no multiethnic, population-based, longitudinal studies are available in Europe. Our objectives were to examine ethnic variation in all-cancer, and lung, colorectal, breast and prostate cancers. DESIGN, SETTING, POPULATION, MEASURES AND ANALYSIS: This retrospective cohort study of 4.65 million people linked the 2001 Scottish Census (providing ethnic group) to cancer databases. With the White Scottish population as reference (value 100), directly age standardised rates and ratios (DASR and DASRR), and risk ratios, by sex and ethnic group with 95% CI were calculated for first cancers. In the results below, 95% CI around the DASRR excludes 100. Eight indicators of socio-economic position were assessed as potential confounders across all groups. For all cancers the White Scottish population (100) had the highest DASRRs, Indians the lowest (men 45.9 and women 41.2) and White British (men 87.6 and women 87.3) and other groups were intermediate (eg, Chinese men 57.6). For lung cancer the DASRRs for Pakistani men (45.0), and women (53.5), were low and for any mixed background men high (174.5). For colorectal cancer the DASRRs were lowest in Pakistanis (men 32.9 and women 68.9), White British (men 82.4 and women 83.7), other White (men 77.2 and women 74.9) and Chinese men (42.6). Breast cancer in women was low in Pakistanis (62.2), Chinese (63.0) and White Irish (84.0). Prostate cancer was lowest in Pakistanis (38.7), Indian (62.6) and White Irish (85.4). No socio-economic indicator was a valid confounding variable across ethnic groups. The 'Scottish effect' does not apply across ethnic groups for cancer. The findings have implications for clinical care, prevention and screening, for example, responding appropriately to the known low uptake among South Asian populations of bowel screening might benefit from modelling of cost-effectiveness of screening, given comparatively low cancer rates.

  20. Variable effects of prevalence correction of population denominators on differentials in myocardial infarction incidence: a record linkage study in Aboriginal and non-Aboriginal Western Australians.

    Katzenellenbogen, Judith M; Sanfilippo, Frank M; Hobbs, Michael S T; Briffa, Tom G; Ridout, Steve C; Knuiman, Matthew W; Dimer, Lyn; Taylor, Kate P; Thompson, Peter L; Thompson, Sandra C

    2011-06-01

    To investigate the impact of prevalence correction of population denominators on myocardial infarction (MI) incidence rates, rate ratios, and rate differences in Aboriginal vs. non-Aboriginal Western Australians aged 25-74 years during the study period 2000-2004. Person-based linked hospital and mortality data sets were used to estimate the number of prevalent and first-ever MI cases each year from 2000 to 2004 using a 15-year look-back period. Age-specific and -standardized MI incidence rates were calculated using both prevalence-corrected and -uncorrected population denominators, by sex and Aboriginality. The impact of prevalence correction on rates increased with age, was higher for men than women, and substantially greater for Aboriginal than non-Aboriginal people. Despite the systematic underestimation of incidence, prevalence correction had little impact on the Aboriginal to non-Aboriginal age-standardized rate ratios (6% and 4% underestimate in men and women, respectively), although the impact on rate differences was more marked (12% and 6%, respectively). The percentage underestimate of differentials was greater at older ages. Prevalence correction of denominators, while more accurate, is difficult to apply and may add modestly to the quantification of relative disparities in MI incidence between populations. Absolute incidence disparities using uncorrected denominators may have an error >10%. Copyright © 2011 Elsevier Inc. All rights reserved.

  1. Ascertainment correction for Markov chain Monte Carlo segregation and linkage analysis of a quantitative trait.

    Ma, Jianzhong; Amos, Christopher I; Warwick Daw, E

    2007-09-01

    Although extended pedigrees are often sampled through probands with extreme levels of a quantitative trait, Markov chain Monte Carlo (MCMC) methods for segregation and linkage analysis have not been able to perform ascertainment corrections. Further, the extent to which ascertainment of pedigrees leads to biases in the estimation of segregation and linkage parameters has not been previously studied for MCMC procedures. In this paper, we studied these issues with a Bayesian MCMC approach for joint segregation and linkage analysis, as implemented in the package Loki. We first simulated pedigrees ascertained through individuals with extreme values of a quantitative trait in spirit of the sequential sampling theory of Cannings and Thompson [Cannings and Thompson [1977] Clin. Genet. 12:208-212]. Using our simulated data, we detected no bias in estimates of the trait locus location. However, in addition to allele frequencies, when the ascertainment threshold was higher than or close to the true value of the highest genotypic mean, bias was also found in the estimation of this parameter. When there were multiple trait loci, this bias destroyed the additivity of the effects of the trait loci, and caused biases in the estimation all genotypic means when a purely additive model was used for analyzing the data. To account for pedigree ascertainment with sequential sampling, we developed a Bayesian ascertainment approach and implemented Metropolis-Hastings updates in the MCMC samplers used in Loki. Ascertainment correction greatly reduced biases in parameter estimates. Our method is designed for multiple, but a fixed number of trait loci. Copyright (c) 2007 Wiley-Liss, Inc.

  2. Mortality after admission for acute myocardial infarction in Aboriginal and non-Aboriginal people in New South Wales, Australia: a multilevel data linkage study

    Randall Deborah A

    2012-04-01

    Full Text Available Abstract Background Heart disease is a leading cause of the gap in burden of disease between Aboriginal and non-Aboriginal Australians. Our study investigated short- and long-term mortality after admission for Aboriginal and non-Aboriginal people admitted with acute myocardial infarction (AMI to public hospitals in New South Wales, Australia, and examined the impact of the hospital of admission on outcomes. Methods Admission records were linked to mortality records for 60047 patients aged 25–84 years admitted with a diagnosis of AMI between July 2001 and December 2008. Multilevel logistic regression was used to estimate adjusted odds ratios (AOR for 30- and 365-day all-cause mortality. Results Aboriginal patients admitted with an AMI were younger than non-Aboriginal patients, and more likely to be admitted to lower volume, remote hospitals without on-site angiography. Adjusting for age, sex, year and hospital, Aboriginal patients had a similar 30-day mortality risk to non-Aboriginal patients (AOR: 1.07; 95% CI 0.83-1.37 but a higher risk of dying within 365 days (AOR: 1.34; 95% CI 1.10-1.63. The latter difference did not persist after adjustment for comorbid conditions (AOR: 1.12; 95% CI 0.91-1.38. Patients admitted to more remote hospitals, those with lower patient volume and those without on-site angiography had increased risk of short and long-term mortality regardless of Aboriginal status. Conclusions Improving access to larger hospitals and those with specialist cardiac facilities could improve outcomes following AMI for all patients. However, major efforts to boost primary and secondary prevention of AMI are required to reduce the mortality gap between Aboriginal and non-Aboriginal people.

  3. Depression as a Risk Factor for the Initial Presentation of Twelve Cardiac, Cerebrovascular, and Peripheral Arterial Diseases: Data Linkage Study of 1.9 Million Women and Men.

    Marina Daskalopoulou

    Full Text Available Depression is associated with coronary heart disease and stroke, but associations with a range of pathologically diverse cardiovascular diseases are not well understood. We examine the risk of 12 cardiovascular diseases according to depression status (history or new onset.Cohort study of 1,937,360 adult men and women, free from cardiovascular disease at baseline, using linked UK electronic health records between 1997 and 2010. The exposures were new-onset depression (a new GP diagnosis of depression and/or prescription for antidepressants during a one-year baseline, and history of GP-diagnosed depression before baseline. The primary endpoint was initial presentation of 12 cardiovascular diseases after baseline. We used disease-specific Cox proportional hazards models with multiple imputation adjusting for cardiovascular risk factors (age, sex, socioeconomic status, smoking, blood pressure, diabetes, cholesterol.Over a median [IQR] 6.9 [2.1-10.5] years of follow-up, 18.9% had a history of depression and 94,432 incident cardiovascular events occurred. After adjustment for cardiovascular risk factors, history of depression was associated with: stable angina (Hazard Ratio = 1.38, 95%CI 1.32-1.45, unstable angina (1.70, 1.60-1.82, myocardial infarction (1.21, 1.16-1.27, unheralded coronary death (1.23, 1.14-1.32, heart failure (1.18, 1.13-1.24, cardiac arrest (1.14, 1.03-1.26, transient ischemic attack (1.31, 1.25-1.38, ischemic stroke (1.26, 1.18-1.34, subarachnoid haemorrhage (1.17, 1.01-1.35, intracerebral haemorrhage (1.30, 1.17-1.45, peripheral arterial disease (1.24, 1.18-1.30, and abdominal aortic aneurysm (1.12,1.01-1.24. New onset depression developed in 2.9% of people, among whom 63,761 cardiovascular events occurred. New onset depression was similarly associated with each of the 12 diseases, with no evidence of stronger associations compared to history of depression. The strength of association between depression and these cardiovascular

  4. Mortality, ethnicity, and country of birth on a national scale, 2001-2013: A retrospective cohort (Scottish Health and Ethnicity Linkage Study).

    Bhopal, Raj S; Gruer, Laurence; Cezard, Genevieve; Douglas, Anne; Steiner, Markus F C; Millard, Andrew; Buchanan, Duncan; Katikireddi, S Vittal; Sheikh, Aziz

    2018-03-01

    Migrant and ethnic minority groups are often assumed to have poor health relative to the majority population. Few countries have the capacity to study a key indicator, mortality, by ethnicity and country of birth. We hypothesized at least 10% differences in mortality by ethnic group in Scotland that would not be wholly attenuated by adjustment for socio-economic factors or country of birth. We linked the Scottish 2001 Census to mortality data (2001-2013) in 4.62 million people (91% of estimated population), calculating age-adjusted mortality rate ratios (RRs; multiplied by 100 as percentages) with 95% confidence intervals (CIs) for 13 ethnic groups, with the White Scottish group as reference (ethnic group classification follows the Scottish 2001 Census). The Scottish Index of Multiple Deprivation, education status, and household tenure were socio-economic status (SES) confounding variables and born in the UK or Republic of Ireland (UK/RoI) an interacting and confounding variable. Smoking and diabetes data were from a primary care sub-sample (about 53,000 people). Males and females in most minority groups had lower age-adjusted mortality RRs than the White Scottish group. The 95% CIs provided good evidence that the RR was more than 10% lower in the following ethnic groups: Other White British (72.3 [95% CI 64.2, 81.3] in males and 75.2 [68.0, 83.2] in females); Other White (80.8 [72.8, 89.8] in males and 76.2 [68.6, 84.7] in females); Indian (62.6 [51.6, 76.0] in males and 60.7 [50.4, 73.1] in females); Pakistani (66.1 [57.4, 76.2] in males and 73.8 [63.7, 85.5] in females); Bangladeshi males (50.7 [32.5, 79.1]); Caribbean females (57.5 [38.5, 85.9]); and Chinese (52.2 [43.7, 62.5] in males and 65.8 [55.3, 78.2] in females). The differences were diminished but not eliminated after adjusting for UK/RoI birth and SES variables. A mortality advantage was evident in all 12 minority groups for those born abroad, but in only 6/12 male groups and 5/12 female groups of

  5. Study on explosives and their quality performance

    Nabiullah, M.; Pingua, B.M.P.; Jagdish Khan, M.; Emranuzzaman [Central Mining Research Institute, Dhanbad (India)

    2005-07-01

    There are about forty suppliers of explosive and blasting accessories in India manufacturing site mixed emulsion, site mixed slurry, ANFO, HANFO, packed products, and blasting accessories of use in surface and underground mines. A field laboratory was set up to measure explosive properties of explosive samples, cast booster, detonating fuse, detonators, cord relay, MS connector, and shock tubes. Density, velocity of detonation, water percentage, water resistance, and energy output were considered as the important properties of explosives. A rating system was designed for selection of good explosive products. The delay interval and delay scattering in cord relay and shock tube was studied to improve blast performance. This paper describes in detail the method of measurement and vender rating system for explosive products as per marking system accepted by Coal India. 12 refs., 4 figs., 22 tabs.

  6. Identifying causal linkages between environmental variables and African conflicts

    Nguy-Robertson, A. L.; Dartevelle, S.

    2017-12-01

    Environmental variables that contribute to droughts, flooding, and other natural hazards are often identified as factors contributing to conflict; however, few studies attempt to quantify these causal linkages. Recent research has demonstrated that the environment operates within a dynamical system framework and the influence of variables can be identified from convergent cross mapping (CCM) between shadow manifolds. We propose to use CCM to identify causal linkages between environmental variables and incidences of conflict. This study utilizes time series data from Climate Forecast System ver. 2 and MODIS satellite sensors processed using Google Earth Engine to aggregate country and regional trends. These variables are then compared to Armed Conflict Location & Event Data Project observations at similar scales. Results provide relative rankings of variables and their linkage to conflict. Being able to identify which factors contributed more strongly to a conflict can allow policy makers to prepare solutions to mitigate future crises. Knowledge of the primary environmental factors can lead to the identification of other variables to examine in the causal network influencing conflict.

  7. Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province

    Mahtab Khosrofar

    2017-06-01

    Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.

  8. Structural studies on sulfated oligosaccharides derived from the carbohydrate-protein linkage region of chondroitin 6-sulfate proteoglycans of shark cartilage. (II.) Seven compounds containing 2 or 3 sulfate residues.

    Vliegenthart, J.F.G.; Waard, P. de; Harada, T.; Sugahara, K.

    1992-01-01

    Shark cartilage proteoglycans bear predominantly chondroitin 6-sulfate. After exhaustive protease digestion, reductive beta-elimination and subsequent chondroitinase ABC digestion, 13 hexasaccharide alditols were obtained from the carbohydrate-protein linkage region and six of them contain 0 or 1

  9. A genome-wide scan for autoimmune thyroiditis in the Old Order Amish: replication of genetic linkage on chromosome 5q11.2-q14.3.

    Allen, Elsie M; Hsueh, Wen-Chi; Sabra, Mona M; Pollin, Toni I; Ladenson, Paul W; Silver, Kristi D; Mitchell, Braxton D; Shuldiner, Alan R

    2003-03-01

    Autoimmune thyroiditis (AITD) is a common disorder characterized by circulating antibodies to epitopes of thyroid tissue and hypothyroidism (Hashimoto's thyroiditis or AITD-hypothyroidism), although many subjects with AITD are euthyroid. Current evidence suggests that AITD is familial and polygenic. We studied AITD in a homogeneous founder Caucasian population, the Old Order Amish of Lancaster County, Pennsylvania. We found autoimmune thyroiditis, defined by the presence of circulating antimicrosomal antibodies, to be relatively common in the Amish, with a prevalence of 22.7%. The prevalence of AITD-hypothyroidism was 9.2%. We performed a genome-wide linkage analysis with 373 short tandem repeat markers in 445 subjects from 29 families. We observed suggestive evidence of linkage of AITD to a locus on chromosome 5q11.2-q14.3 (LOD, 2.30; P = 0.0006 at 94 cM; closest marker, D5S428), a region that was previously reported to be linked to AITD-hypothyroidism in a Japanese study. AITD-hypothyroidism showed a more modest linkage peak to the same region (LOD, 1.46; P = 0.005). Possible linkage (nominal P Amish.

  10. Genome scan for linkage to Gilles de la Tourette syndrome

    Barr, C.L.; Livingston, J.; Williamson, R. [and others

    1994-09-01

    Gilles de la Tourette Syndrome (TS) is a familial, neuropsychiatric disorder characterized by chronic, intermittent motor and vocal tics. In addition to tics, affected individuals frequently display symptoms such as attention-deficit hyperactivity disorder and/or obsessive compulsive disorder. Genetic analyses of family data have suggested that susceptibility to the disorder is most likely due to a single genetic locus with a dominant mode of transmission and reduced penetrance. In the search for genetic linkage for TS, we have collected well-characterized pedigrees with multiple affected individuals on whom extensive diagnostic evaluations have been done. The first stage of our study is to scan the genome systematically using a panel of uniformly spaced (10 to 20 cM), highly polymorphic, microsatellite markers on 5 families segregating TS. To date, 290 markers have been typed and 3,660 non-overlapping cM of the genome have been excluded for possible linkage under the assumption of genetic homogeneity. Because of the possibility of locus heterogeneity overall summed exclusion is not considered tantamount to absolute exclusion of a disease locus in that region. The results from each family are carefully evaluated and a positive lod score in a single family is followed up by typing closely linked markers. Linkage to TS was examined by two-point analysis using the following genetic model: single autosomal dominant gene with gene frequency .003 and maximum penetrance of .99. An age-of-onset correction is included using a linear function increasing from age 2 years to 21 years. A small rate of phenocopies is also incorporated into the model. Only individuals with TS or CMT according to DSM III-R criteria were regarded as affected for the purposes of this summary. Additional markers are being tested to provide coverage at 5 cM intervals. Moreover, we are currently analyzing the data non-parametrically using the Affected-Pedigree-Member Method of linkage analysis.

  11. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  12. Linkage disequilibrium and association mapping of drought ...

    Drought stress is a major abiotic stress that limits crop production. Molecular association mapping techniques through linkage disequilibrium (LD) can be effectively used to tag genomic regions involved in drought stress tolerance. With the association mapping approach, 90 genotypes of cotton Gossypium hirsutum, from ...

  13. principles, realities and challenges regarding institutional linkages ...

    p2333147

    (2) Compromise between proximity to community and effective coordination. If organisational linkage structures are to facilitate effective participation and ownership, it stands to reason that they should be as close to the grassroots community as possible. Unless community members regard such organisational structures as.

  14. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.

    Keogh, Ivan J; Godinho, R N; Wu, T Po; Diaz de Palacios, A M; Palacios, N; Bello de Alford, M; De Almada, M I; MarPalacios, N; Vazquez, A; Mattei, R; Seidman, C; Seidman, J; Eavey, R D

    2004-08-01

    To undertake a comprehensive investigation into the very high incidence of congenital deafness on the Macano peninsula of Margarita Island, Venezuela. Numerous visits were made to the isolated island community over a 4-year-period. During these visits, it became apparent that a significant number of individuals complained of problems with hearing and vision. Socioeconomic assessments, family pedigrees and clinical histories were recorded on standard questionnaires. All individuals underwent thorough otolaryngologic and ophthalmologic examinations. Twenty milliliters of peripheral venous blood was obtained from each participant. A genome-wide linkage analysis study was performed. Polymorphic microsatellite markers were amplified by polymerase chain reaction and separated on polyacrylamide gels. An ABI 377XL sequencer was used to separate fragments and LOD scores were calculated by using published software. Twenty-four families were identified, comprising 329 individuals, age range 1-80 years, including 184 children. All families were categorized in the lower two (least affluent) socioeconomic categories. A high incidence of consanguinity was detected. Fifteen individuals (11 adults, 4 children) had profound congenital sensorineural hearing loss, vestibular areflexia and retinitis pigmentosa. A maximum LOD score of 6.76 (Linkage >3.0), between markers D11s4186 and D11s911, confirmed linkage to chromosome 11q13.5. The gene myosin VIIA (MYO7A) was confirmed in the interval. Clinical and genetic findings are consistent with a diagnosis of Usher syndrome 1B for those with hearing and vision problems. We report 15 Usher syndrome 1B individuals from a newly detected Latin American socio-demographic origin, with a very high prevalence of 76 per 100,000 population.

  15. Determination of interglycosidic linkages in O-glycosyl flavones by high-performance liquid chromatography/photodiode-array detection coupled to electrospray ionization ion trap mass spectrometry. Its application to Tetragonula carbonaria honey from Australia.

    Truchado, Pilar; Vit, Patricia; Heard, Tim A; Tomás-Barberán, Francisco A; Ferreres, Federico

    2015-05-30

    Tetragonula carbonaria pot-honeys are highly valued as a food source and for their biological activities in Australia, and there is a growing interest to know its composition. Phenolic metabolites, which could be related to their beneficial properties, have not been studied in depth yet. Mass spectrometry (MS) coupled to liquid chromatography (LC) is an advanced technique for the study of complex flavonoids present in difficult food matrices that hampers their isolation and purification. This allows the tentative characterization of diglycosides/triglycosides establishing the position of the O-glycosylation on the sugar moiety by the study of the MS data in T. carbonaria pot-honeys from Australia. Their spectra obtained by high-performance liquid chromatography/photodiode-array detection/electrospray ionization ion trap mass spectrometry (HPLC/DAD/ESI-MS(n) ) revealed for the first time 19 quercetin, kaempferol and isorhamnetin O-glycosides. These compounds were clustered in flavonoid triglycosides, diglycosides and monoglycosides. The first cluster contained one flavonoid trihexoside, two -3-O-(2-hexosyl, 6-rhamnosyl)hexosides and their isomers and two -3-O-(2,6-di-rhamnosyl)hexosides. In the second cluster, eleven flavonoid diglycosides such as three -3-O-(2-hexosyl)hexosides, four -3-O-(2-rhamnosyl)hexosides and one -3-O-(6-rhamnosyl)hexoside as well as two -3-O-(2-pentosyl)hexosides and one tentative -3-O-(3-pentosyl)hexoside were detected. In the monoglycoside group, only one flavonoid -3-O-hexoside was identified. The occurrence of this large number of flavonoid glycosides could be due to the low glucosidase activity previously reported in stingless bee honey. Copyright © 2015 John Wiley & Sons, Ltd.

  16. Effect of Linkage Disequilibrium on the Identification of Functional Variants

    Thomas, Alun; Abel, Haley J; Di, Yanming; Faye, Laura L; Jin, Jing; Liu, Jin; Wu, Zheyan; Paterson, Andrew D

    2011-01-01

    We summarize the contributions of Group 9 of Genetic Analysis Workshop 17. This group addressed the problems of linkage disequilibrium and other longer range forms of allelic association when evaluating the effects of genotypes on phenotypes. Issues raised by long-range associations, whether a result of selection, stratification, possible technical errors, or chance, were less expected but proved to be important. Most contributors focused on regression methods of various types to illustrate problematic issues or to develop adaptations for dealing with high-density genotype assays. Study design was also considered, as was graphical modeling. Although no method emerged as uniformly successful, most succeeded in reducing false-positive results either by considering clusters of loci within genes or by applying smoothing metrics that required results from adjacent loci to be similar. Two unexpected results that questioned our assumptions of what is required to model linkage disequilibrium were observed. The first was that correlations between loci separated by large genetic distances can greatly inflate single-locus test statistics, and, whether the result of selection, stratification, possible technical errors, or chance, these correlations seem overabundant. The second unexpected result was that applying principal components analysis to genome-wide genotype data can apparently control not only for population structure but also for linkage disequilibrium. PMID:22128051

  17. Evolution of zygotic linkage disequilibrium in a finite local population.

    Xin-Sheng Hu

    Full Text Available One crucial feature of zygotic linkage disequilibrium (LD analysis is its direct use of diploid genotyping data, irrespective of the type of mating system. Previous theories from an evolutionary perspective mainly focus on gametic LD, but the equivalent development for zygotic LD is not available. Here I study the evolution of zygotic LD and the covariances between gametic and zygotic LDs or between distinct zygotic LDs in a finite local population under constant immigration from a continent population. I derive the analytical theory under genetic hitchhiking effects or in a neutral process. Results indicate that zygotic LDs (diploid level are more informative than gametic LD (haploid level in indicating the effects of different evolutionary forces. Zygotic LDs may be greater than or comparable to gametic LD under the epistatic selection process, but smaller than gametic LD under the non epistatic selection process. The covariances between gametic and zygotic LDs are strongly affected by the mating system, linkage distance, and genetic drift effects, but weakly affected by seed and pollen flow and natural selection. The covariances between different zygotic LDs are generally robust to the effects of gene flow, selection, and linkage distance, but sensitive to the effects of genetic drift and mating system. Consistent patterns exist for the covariances between the zygotic LDs for the two-locus genotypes with one common genotype at one locus or without any common genotype at each locus. The results highlight that zygotic LDs can be applied to detecting natural population history.

  18. A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16.

    Asherson, P; Zhou, K; Anney, R J L; Franke, B; Buitelaar, J; Ebstein, R; Gill, M; Altink, M; Arnold, R; Boer, F; Brookes, K; Buschgens, C; Butler, L; Cambell, D; Chen, W; Christiansen, H; Feldman, L; Fleischman, K; Fliers, E; Howe-Forbes, R; Goldfarb, A; Heise, A; Gabriëls, I; Johansson, L; Lubetzki, I; Marco, R; Medad, S; Minderaa, R; Mulas, F; Müller, U; Mulligan, A; Neale, B; Rijsdijk, F; Rabin, K; Rommelse, N; Sethna, V; Sorohan, J; Uebel, H; Psychogiou, L; Weeks, A; Barrett, R; Xu, X; Banaschewski, T; Sonuga-Barke, E; Eisenberg, J; Manor, I; Miranda, A; Oades, R D; Roeyers, H; Rothenberger, A; Sergeant, J; Steinhausen, H-C; Taylor, E; Thompson, M; Faraone, S V

    2008-05-01

    As part of the International Multi-centre ADHD Genetics project we completed an affected sibling pair study of 142 narrowly defined Diagnostic and Statistical Manual of Mental Disorders, fourth edition combined type attention deficit hyperactivity disorder (ADHD) proband-sibling pairs. No linkage was observed on the most established ADHD-linked genomic regions of 5p and 17p. We found suggestive linkage signals on chromosomes 9 and 16, respectively, with the highest multipoint nonparametric linkage signal on chromosome 16q23 at 99 cM (log of the odds, LOD=3.1) overlapping data published from the previous UCLA (University of California, Los Angeles) (LOD>1, approximately 95 cM) and Dutch (LOD>1, approximately 100 cM) studies. The second highest peak in this study was on chromosome 9q22 at 90 cM (LOD=2.13); both the previous UCLA and German studies also found some evidence of linkage at almost the same location (UCLA LOD=1.45 at 93 cM; German LOD=0.68 at 100 cM). The overlap of these two main peaks with previous findings suggests that loci linked to ADHD may lie within these regions. Meta-analysis or reanalysis of the raw data of all the available ADHD linkage scan data may help to clarify whether these represent true linked loci.

  19. Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms

    Kyllo, J.H.; Collins, M.M.; Vetter, K.L. [Univ. of Iowa College of Medicine, Iowa City, IA (United States)] [and others

    1996-03-29

    Genetic screening techniques using simple sequence repeat polymorphisms were applied to investigate the molecular nature of congenital isolated adrenocorticotropic hormone (ACTH) deficiency. We hypothesize that this rare cause of hypocortisolism shared by a brother and sister with two unaffected sibs and unaffected parents is inherited as an autosomal recessive single gene mutation. Genes involved in the hypothalamic-pituitary axis controlling cortisol sufficiency were investigated for a causal role in this disorder. Southern blotting showed no detectable mutations of the gene encoding pro-opiomelanocortin (POMC), the ACTH precursor. Other candidate genes subsequently considered were those encoding neuroendocrine convertase-1, and neuroendocrine convertase-2 (NEC-1, NEC-2), and corticotropin releasing hormone (CRH). Tests for linkage were performed using polymorphic di- and tetranucleotide simple sequence repeat markers flanking the reported map locations for POMC, NEC-1, NEC-2, and CRH. The chromosomal haplotypes determined by the markers flanking the loci for POMC, NEC-1, and NEC-2 were not compatible with linkage. However, 22 individual markers defining the chromosomal haplotypes flanking CRH were compatible with linkage of the disorder to the immediate area of this gene of chromosome 8. Based on these data, we hypothesize that the ACTH deficiency in this family is due to an abnormality of CRH gene structure or expression. These results illustrate the useful application of high density genetic maps constructed with simple sequence repeat markers for inclusion/exclusion studies of candidate genes in even very small nuclear families segregating for unusual phenotypes. 25 refs., 5 figs., 2 tabs.

  20. Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

    He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan

    2011-03-01

    The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.

  1. A high-density linkage map and QTL mapping of fruit-related traits in pumpkin (Cucurbita moschata Duch.).

    Zhong, Yu-Juan; Zhou, Yang-Yang; Li, Jun-Xing; Yu, Ting; Wu, Ting-Quan; Luo, Jian-Ning; Luo, Shao-Bo; Huang, He-Xun

    2017-10-06

    Pumpkin (Cucurbita moschata) is an economically worldwide crop. Few quantitative trait loci (QTLs) were reported previously due to the lack of genomic and genetic resources. In this study, a high-density linkage map of C. moschata was structured by double-digest restriction site-associated DNA sequencing, using 200 F2 individuals of CMO-1 × CMO-97. By filtering 74,899 SNPs, a total of 3,470 high quality SNP markers were assigned to the map spanning a total genetic distance of 3087.03 cM on 20 linkage groups (LGs) with an average genetic distance of 0.89 cM. Based on this map, both pericarp color and strip were fined mapped to a novel single locus on LG8 in the same region of 0.31 cM with phenotypic variance explained (PVE) of 93.6% and 90.2%, respectively. QTL analysis was also performed on carotenoids, sugars, tuberculate fruit, fruit diameter, thickness and chamber width with a total of 12 traits. 29 QTLs distributed in 9 LGs were detected with PVE from 9.6% to 28.6%. It was the first high-density linkage SNP map for C. moschata which was proved to be a valuable tool for gene or QTL mapping. This information will serve as significant basis for map-based gene cloning, draft genome assembling and molecular breeding.

  2. Experimental Study on Revetec Engine Cam Performance

    Gasim, Maisara Mohyeldin; Chui, Lee Giok; Anwar, Khirul Azhar bin

    2012-01-01

    In Revetec engine (three-lobed) cam replaces the crankshaft to convert the reciprocating motion of the engine piston, to a rotating motion in the drive line. Since the cam controls the piston movement, the cam profile has a great effect on engine performance. In this paper an experimental study was done to a (three- lobed) cam with Cycloidal motion profile but with different ratios between the base circle radius of the cam and the radius of the roller follower. DEWESoft was used to find the displacement and the vibration of the piston, and compare the actual results from the test with the theoretical results from the cam profile equation. The results showed that there is a periods of miss contact between the follower and the cam when the ratio between the base circle radius of the cam and the radius of the roller follower is less than a certain value, and also increasing of vibration. The suggested ratio between the cam and follower radius is to be more than 2:1.

  3. Quantitative linkage genome scan for atopy in a large collection of Caucasian families

    Webb, BT; van den Oord, E; Akkari, A

    2007-01-01

    adulthood, asthma is frequently associated also with quantitative measures of atopy. Genome wide quantitative multipoint linkage analysis was conducted for serum IgE levels and percentage of positive skin prick test (SPT(per)) using three large groups of families originally ascertained for asthma....... In this report, 438 and 429 asthma families were informative for linkage using IgE and SPT(per) which represents 690 independent families. Suggestive linkage (LOD >/= 2) was found on chromosomes 1, 3, and 8q with maximum LODs of 2.34 (IgE), 2.03 (SPT(per)), and 2.25 (IgE) near markers D1S1653, D3S2322-D3S1764...... represents one of the biggest genome scans so far reported for asthma related phenotypes. This study also demonstrates the utility of increased sample sizes and quantitative phenotypes in linkage analysis of complex disorders....

  4. Tack Coat Performance and Materials Study

    2017-06-01

    A good bond provided by a tack coat can improve performance of asphalt overlays. The objectives of this research were: (1) develop a method for testing the bond between pavement layers; (2) evaluate the bond performance and predict long-term performa...

  5. Cooperation, Technology, and Performance: A Case Study.

    Cavanagh, Thomas; Dickenson, Sabrina; Brandt, Suzanne

    1999-01-01

    Describes the CTP (Cooperation, Technology, and Performance) model and explains how it is used by the Department of Veterans Affairs-Veteran's Benefit Administration (VBA) for training. Discusses task analysis; computer-based training; cooperative-based learning environments; technology-based learning; performance-assessment methods; courseware…

  6. Molecular analysis and test of linkage between the FMR-I gene and infantile autism in multiplex families

    Hallmayer, J.; Pintado, E.; Lotspeich, L.; Spiker, D.; Kraemer, H.C.; Lee Wong, D.; Lin, A.; Herbert, J.; Cavalli-Sforza, L.L.; Ciaranello, R.D. [Stanford Univ., CA (United States)] [and others

    1994-11-01

    Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings by Southern blot analysis. No examples of amplified repeats were seen in the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between -24 and -62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1. Further, because the overall lod scores for all probes in all models tested were highly negative, linkage to FMR-1 can also be ruled out in multiplex autistic families. 35 refs., 2 figs., 5 tabs.

  7. Confirmation of linkage of Best`s macular dystrophy to 11q13, and evidence for genetic heterogeneity

    Mansergh, F.C.; Kenna, P.F.; Farrar, G.J. [Trinity College, Dublin (United Kingdom)] [and others

    1994-09-01

    Best`s macular dystrophy, also known as vitelliform macular degeneration, is an autosomal dominant, early onset form of macular degeneration. The disease is characterized by a roughly circular deposit of lipofuscin beneath the pigment epithelium of the retinal macula. Linkage studies were performed in two families, one Irish and one German, segregating typical Best`s macular dystrophy. In the Irish family (BTMD1), linkage analysis mapped the disease causing gene to chromosome 11q13, in a 10 cM region between the microsatellite markers PYGM and D11S871. Both markers showed different recombinants with the disease phenotype. This is a region that has previously shown linkage in families affected with Best`s macular dystrophy. Lod scores of 9.63, 9.12, 6.92, and 6.83 at zero recombination, were obtained with markers D11S1344, D11S1361, D11S1357 and D11S903, respectively. This data places the disease locus definitvely within the region between PYGM and D11S871. Linkage has been significantly excluded in this region in the German family (FamE), thereby providing evidence for genetic heterogeneity in this disease. The retinal specific gene, rod outer membrane protein 1 (ROM1), which maps to this region, has been screened for mutations in family BTMD1 by SSCPE analysis and by direct sequencing. Some of the promoter region, the three exons, and both introns have been sequenced; however, no mutations were found. It is likely that a gene other than ROM1 within this region may be responsible for causing the disease phenotype.

  8. Performance testing of extremity dosimeters, Study 2

    Harty, R.; Reece, W.D.; Hooker, C.D.

    1990-04-01

    The Health Physics Society Standards Committee (HPSSC) Working Group on Performance Testing of Extremity Dosimeters has issued a draft of a proposed standard for extremity dosimeters. The draft standard proposes methods to be used for testing dosimetry systems that determine occupational radiation dose to the extremities and the performance criterion used to determine compliance with the standard. Pacific Northwest Laboratory (PNL) has conducted two separate evaluations of the performance of extremity dosimeter processors to determine the appropriateness of the draft standard, as well as to obtain information regarding the performance of extremity dosimeters. Based on the information obtained during the facility visits and the results obtained from the performance testing, it was recommended that changes be made to ensure that the draft standard is appropriate for extremity dosimeters. The changes include: subdividing the mixture category and the beta particle category; eliminating the neutron category until appropriate flux-to-dose equivalent conversion factors are derived; and changing the tolerance level for the performance criterion to provide consistency with the performance criterion for whole body dosimeters, and to avoid making the draft standard overly difficult for processors of extremity dosimeters to pass. 20 refs., 10 figs., 6 tabs

  9. The evolution of CMS software performance studies

    Kortelainen, Matti J

    2010-01-01

    CMS has had an ongoing and dedicated effort to optimize software performance for several years. Initially this effort focused primarily on the cleanup of many issues coming from basic C++ errors, namely reducing dynamic memory churn, unnecessary copies/temporaries and tools to routinely monitor these things. Over the past 1.5 years, however, the transition to 64bit, newer versions of the gcc compiler, newer tools and the enabling of techniques like vectorization have made possible more sophisticated improvements to the software performance. This presentation will cover this evolution and describe the current avenues being pursued for software performance, as well as the corresponding gains.

  10. AngularJS Performance: A Survey Study

    Ramos, Miguel; Valente, Marco Tulio; Terra, Ricardo

    2017-01-01

    AngularJS is a popular JavaScript MVC-based framework to construct single-page web applications. In this paper, we report the results of a survey with 95 professional developers about performance issues of AngularJS applications. We report common practices followed by developers to avoid performance problems (e.g., use of third-party or custom components), the general causes of performance problems in AngularJS applications (e.g., inadequate architecture decisions taken by AngularJS users), a...

  11. The evolution of CMS software performance studies

    Kortelainen, M. J.; Elmer, P.; Eulisse, G.; Innocente, V.; Jones, C. D.; Tuura, L.

    2011-12-01

    CMS has had an ongoing and dedicated effort to optimize software performance for several years. Initially this effort focused primarily on the cleanup of many issues coming from basic C++ errors, namely reducing dynamic memory churn, unnecessary copies/temporaries and tools to routinely monitor these things. Over the past 1.5 years, however, the transition to 64bit, newer versions of the gcc compiler, newer tools and the enabling of techniques like vectorization have made possible more sophisticated improvements to the software performance. This presentation will cover this evolution and describe the current avenues being pursued for software performance, as well as the corresponding gains.

  12. Tunnel Boring Machine Performance Study. Final Report

    1984-06-01

    Full face tunnel boring machine "TBM" performance during the excavation of 6 tunnels in sedimentary rock is considered in terms of utilization, penetration rates and cutter wear. The construction records are analyzed and the results are used to inves...

  13. Genome Scan for Selection in Structured Layer Chicken Populations Exploiting Linkage Disequilibrium Information.

    Mahmood Gholami

    Full Text Available An increasing interest is being placed in the detection of genes, or genomic regions, that have been targeted by selection because identifying signatures of selection can lead to a better understanding of genotype-phenotype relationships. A common strategy for the detection of selection signatures is to compare samples from distinct populations and to search for genomic regions with outstanding genetic differentiation. The aim of this study was to detect selective signatures in layer chicken populations using a recently proposed approach, hapFLK, which exploits linkage disequilibrium information while accounting appropriately for the hierarchical structure of populations. We performed the analysis on 70 individuals from three commercial layer breeds (White Leghorn, White Rock and Rhode Island Red, genotyped for approximately 1 million SNPs. We found a total of 41 and 107 regions with outstanding differentiation or similarity using hapFLK and its single SNP counterpart FLK respectively. Annotation of selection signature regions revealed various genes and QTL corresponding to productions traits, for which layer breeds were selected. A number of the detected genes were associated with growth and carcass traits, including IGF-1R, AGRP and STAT5B. We also annotated an interesting gene associated with the dark brown feather color mutational phenotype in chickens (SOX10. We compared FST, FLK and hapFLK and demonstrated that exploiting linkage disequilibrium information and accounting for hierarchical population structure decreased the false detection rate.

  14. Search for linkage to schizophrenia on the X and Y chromosomes

    Devoto, M.; Ott, J. [Columbia Univ., New York, NY (United States); Vita, A. [Univ. of Milan (Italy)] [and others

    1994-06-15

    Markers for X chromosome loci were used in linkage studies of a large group of small families (n = 126) with at least two schizophrenic members in one sibship. Based on the hypothesis that a gene for schizophrenia could be X-Y linked, with homologous loci on both X and Y, our analyses included all families regardless of the pattern of familial inheritance. Lod scores were computed with both standard X-linked and a novel X-Y model, and sib-pair analyses were performed for all markers examining the sharing of maternal alleles. Small positive lod scores were obtained for loci pericentromeric, from Xp11.4 to Xq12. Lod scores were also computed separately in families selected for evidence of maternal inheritance and absence of male to male transmission of psychosis. The lod scores for linkage to the locus DXS7 reached a maximum of 1.83 at 0.08% recombination, assuming dominant inheritance on the X chromosome in these families (n = 34). Further investigation of the X-Y homologous gene hypothesis focussing on this region is warranted. 39 refs. 1 fig., 6 tabs.

  15. Construction of a reference genetic linkage map for carnation (Dianthus caryophyllus L.).

    Yagi, Masafumi; Yamamoto, Toshiya; Isobe, Sachiko; Hirakawa, Hideki; Tabata, Satoshi; Tanase, Koji; Yamaguchi, Hiroyasu; Onozaki, Takashi

    2013-10-26

    in this study will serve as reference genetic linkage maps for members of the genus Dianthus, including carnation, and will be useful for mapping QTLs associated with various traits, and for improving carnation breeding programs.

  16. Performance studies of the parallel VIM code

    Shi, B.; Blomquist, R.N.

    1996-01-01

    In this paper, the authors evaluate the performance of the parallel version of the VIM Monte Carlo code on the IBM SPx at the High Performance Computing Research Facility at ANL. Three test problems with contrasting computational characteristics were used to assess effects in performance. A statistical method for estimating the inefficiencies due to load imbalance and communication is also introduced. VIM is a large scale continuous energy Monte Carlo radiation transport program and was parallelized using history partitioning, the master/worker approach, and p4 message passing library. Dynamic load balancing is accomplished when the master processor assigns chunks of histories to workers that have completed a previously assigned task, accommodating variations in the lengths of histories, processor speeds, and worker loads. At the end of each batch (generation), the fission sites and tallies are sent from each worker to the master process, contributing to the parallel inefficiency. All communications are between master and workers, and are serial. The SPx is a scalable 128-node parallel supercomputer with high-performance Omega switches of 63 microsec latency and 35 MBytes/sec bandwidth. For uniform and reproducible performance, they used only the 120 identical regular processors (IBM RS/6000) and excluded the remaining eight planet nodes, which may be loaded by other's jobs

  17. Strategies employed for LHC software performance studies

    Nowak, A

    2010-01-01

    The objective of this work is to collect and assess the software performance related strategies employed by the major players in the LHC software arena: the four main experiments (ALICE, ATLAS, CMS and LHCb) and the two main software frameworks (Geant4 and ROOT). As the software used differs between the parties, so do the directions and methods in optimization, and their intensity. The common feeling shared by nearly all interviewed parties is that performance is not one of their top priorities and that maintaining it at a constant level is a satisfactory solution, given the resources at hand. In principle, despite some organized efforts, a less structured approach seems to be the dominant one, and opportunistic optimization prevails. Four out of six surveyed groups are investigating memory management related effects, deemed to be the primary cause of their performance issues. The most commonly used tools include Valgrind and homegrown software. All questioned groups expressed the desire for advanced tools, s...

  18. Quality of record linkage in a highly automated cancer registry that relies on encrypted identity data

    Schmidtmann, Irene

    2016-06-01

    Full Text Available Objectives: In the absence of unique ID numbers, cancer and other registries in Germany and elsewhere rely on identity data to link records pertaining to the same patient. These data are often encrypted to ensure privacy. Some record linkage errors unavoidably occur. These errors were quantified for the cancer registry of North Rhine Westphalia which uses encrypted identity data. Methods: A sample of records was drawn from the registry, record linkage information was included. In parallel, plain text data for these records were retrieved to generate a gold standard. Record linkage error frequencies in the cancer registry were determined by comparison of the results of the routine linkage with the gold standard. Error rates were projected to larger registries.Results: In the sample studied, the homonym error rate was 0.015%; the synonym error rate was 0.2%. The F-measure was 0.9921. Projection to larger databases indicated that for a realistic development the homonym error rate will be around 1%, the synonym error rate around 2%.Conclusion: Observed error rates are low. This shows that effective methods to standardize and improve the quality of the input data have been implemented. This is crucial to keep error rates low when the registry’s database grows. The planned inclusion of unique health insurance numbers is likely to further improve record linkage quality. Cancer registration entirely based on electronic notification of records can process large amounts of data with high quality of record linkage.

  19. Visualization of pairwise and multilocus linkage disequilibrium structure using latent forests.

    Raphaël Mourad

    Full Text Available Linkage disequilibrium study represents a major issue in statistical genetics as it plays a fundamental role in gene mapping and helps us to learn more about human history. The linkage disequilibrium complex structure makes its exploratory data analysis essential yet challenging. Visualization methods, such as the triangular heat map implemented in Haploview, provide simple and useful tools to help understand complex genetic patterns, but remain insufficient to fully describe them. Probabilistic graphical models have been widely recognized as a powerful formalism allowing a concise and accurate modeling of dependences between variables. In this paper, we propose a method for short-range, long-range and chromosome-wide linkage disequilibrium visualization using forests of hierarchical latent class models. Thanks to its hierarchical nature, our method is shown to provide a compact view of both pairwise and multilocus linkage disequilibrium spatial structures for the geneticist. Besides, a multilocus linkage disequilibrium measure has been designed to evaluate linkage disequilibrium in hierarchy clusters. To learn the proposed model, a new scalable algorithm is presented. It constrains the dependence scope, relying on physical positions, and is able to deal with more than one hundred thousand single nucleotide polymorphisms. The proposed algorithm is fast and does not require phase genotypic data.

  20. A Targeted Capture Linkage Map Anchors the Genome of the Schistosomiasis Vector Snail, Biomphalaria glabrata.

    Tennessen, Jacob A; Bollmann, Stephanie R; Blouin, Michael S

    2017-07-05

    The aquatic planorbid snail Biomphalaria glabrata is one of the most intensively-studied mollusks due to its role in the transmission of schistosomiasis. Its 916 Mb genome has recently been sequenced and annotated, but it remains poorly assembled. Here, we used targeted capture markers to map over 10,000 B. glabrata scaffolds in a linkage cross of 94 F1 offspring, generating 24 linkage groups (LGs). We added additional scaffolds to these LGs based on linkage disequilibrium (LD) analysis of targeted capture and whole-genome sequences of 96 unrelated snails. Our final linkage map consists of 18,613 scaffolds comprising 515 Mb, representing 56% of the genome and 75% of genic and nonrepetitive regions. There are 18 large (> 10 Mb) LGs, likely representing the expected 18 haploid chromosomes, and > 50% of the genome has been assigned to LGs of at least 17 Mb. Comparisons with other gastropod genomes reveal patterns of synteny and chromosomal rearrangements. Linkage relationships of key immune-relevant genes may help clarify snail-schistosome interactions. By focusing on linkage among genic and nonrepetitive regions, we have generated a useful resource for associating snail phenotypes with causal genes, even in the absence of a complete genome assembly. A similar approach could potentially improve numerous poorly-assembled genomes in other taxa. This map will facilitate future work on this host of a serious human parasite. Copyright © 2017 Tennessen et al.

  1. Kempe's Linkages and the Universality Theorem

    sriranga

    that between BO and OA (i.e., \\BOA). Let these two angles be denoted by µ. Thus, if link OA makes an angle. µ with link OB, OE makes the same angle on the other side of OB. Kempe therefore referred to this linkage as the (angle) reversor. This is true irrespective of how OA and OB are placed relative to each other. Also ...

  2. Methods for genetic linkage analysis using trisomies.

    Feingold, E; Lamb, N E; Sherman, S L

    1995-01-01

    Certain genetic disorders are rare in the general population, but more common in individuals with specific trisomies. Examples of this include leukemia and duodenal atresia in trisomy 21. This paper presents a linkage analysis method for using trisomic individuals to map genes for such traits. It is based on a very general gene-specific dosage model that posits that the trait is caused by specific effects of different alleles at one or a few loci and that duplicate copies of "susceptibility" ...

  3. Hidden linkages between urbanization and food systems.

    Seto, Karen C; Ramankutty, Navin

    2016-05-20

    Global societies are becoming increasingly urban. This shift toward urban living is changing our relationship with food, including how we shop and what we buy, as well as ideas about sanitation and freshness. Achieving food security in an era of rapid urbanization will require considerably more understanding about how urban and food systems are intertwined. Here we discuss some potential understudied linkages that are ripe for further examination. Copyright © 2016, American Association for the Advancement of Science.

  4. 'Linkage' pharmaceutical evergreening in Canada and Australia

    Faunce, Thomas A; Lexchin, Joel

    2007-01-01

    'Evergreening' is not a formal concept of patent law. It is best understood as a social idea used to refer to the myriad ways in which pharmaceutical patent owners utilise the law and related regulatory processes to extend their high rent-earning intellectual monopoly privileges, particularly over highly profitable (either in total sales volume or price per unit) 'blockbuster' drugs. Thus, while the courts are an instrument frequently used by pharmaceutical brand name manufacturers to prolong their patent royalties, 'evergreening' is rarely mentioned explicitly by judges in patent protection cases. The term usually refers to threats made to competitors about a brand-name manufacturer's tactical use of pharmaceutical patents (including over uses, delivery systems and even packaging), not to extension of any particular patent over an active product ingredient. This article focuses in particular on the 'evergreening' potential of so-called 'linkage' provisions, imposed on the regulatory (safety, quality and efficacy) approval systems for generic pharmaceuticals of Canada and Australia, by specific articles in trade agreements with the US. These 'linkage' provisions have also recently appeared in the Korea-US Free Trade Agreement (KORUSFTA). They require such drug regulators to facilitate notification of, or even prevent, any potential patent infringement by a generic pharmaceutical manufacturer. This article explores the regulatory lessons to be learnt from Canada's and Australia's shared experience in terms of minimizing potential adverse impacts of such 'linkage evergreening' provisions on drug costs and thereby potentially on citizen's access to affordable, essential medicines. PMID:17543113

  5. Study of Tungsten effect on CFETR performance

    Shi, Shengyu; Xiang Gao Collaboration; Guoqiang Li Collaboration; Nan Shi Collaboration; Vincent Chan Collaboration; Xiang Jian Collaboration

    2017-10-01

    An integrated modeling workflow using OMFIT/TGYRO is constructed to evaluate W impurity effects on China Fusion Engineering Test Reactor (CFETR) performance. Self-consistent modeling of tungsten(W) core density profile, accounting for turbulence and neoclassical transport, is performed based on the CFETR steady-state scenario developed by D.Zhao (ZhaoDeng, APS, 2016). It's found that the fusion performance degraded in a limited level with increasing W concentration. The main challenge arises in sustainment of H-mode with significant W radiation. Assuming the power threshold of H-L back transition is approximately the same as that of L-H transition, using the scaling law of Takizuka (Takizuka etc, Plasma Phys. Control. Fusion, 2004), it is found that the fractional W concentration should not exceed 3e-5 to stay in H-mode for CFETR phase I. A future step is to connect this requirement to W wall erosion modeling. We are grateful to Dr. Emiliano Fable and Dr. Thomas Pütterich and Ms. Emily Belli for very helpful discussions and comments. We also would like to express our thanks to all the members of the CFETR Physics Group, and we appreciate the General Atomic Theory Group for permission to use the OMFIT framework and GA code suite, and for their valuable technical support. Numerical computations were performed on the ShenMa High Performance Computing Cluster in the Institute of Plasma Physics, Chinese Academy of Sciences. This work was mainly supported by the National Magnetic Confinement Fusion Research Program of China (Grant Nos. 2014GB110001, 2014GB110002, 2014GB110003) and supported in part by the National ITER Plans Program of China (Grant Nos. 2013GB106001, 2013GB111002, 2015GB110001).

  6. Performance improvement using methodology: case study.

    Harmelink, Stacy

    2008-01-01

    The department of radiology at St. Luke's Regional Medical Center in Sioux City, IA implemented meaningful workflow changes for reducing patient wait times and, at the same time, improved customer and employee satisfaction scores. Lean methodology and the 7 Deadly Wastes, along with small group interaction, was used to evaluate and change the process of a patient waiting for an exam in the radiology department. The most important key to the success of a performance improvement project is the involvement of staff.

  7. Driving Simulator Development and Performance Study

    Juto, Erik

    2010-01-01

    The driving simulator is a vital tool for much of the research performed at theSwedish National Road and Transport Institute (VTI). Currently VTI posses three driving simulators, two high fidelity simulators developed and constructed by VTI, and a medium fidelity simulator from the German company Dr.-Ing. Reiner Foerst GmbH. The two high fidelity simulators run the same simulation software, developed at VTI. The medium fidelity simulator runs a proprietary simulation software. At VTI there is...

  8. Ultra high performance concrete dematerialization study

    NONE

    2004-03-01

    Concrete is the most widely used building material in the world and its use is expected to grow. It is well recognized that the production of portland cement results in the release of large amounts of carbon dioxide, a greenhouse gas (GHG). The main challenge facing the industry is to produce concrete in an environmentally sustainable manner. Reclaimed industrial by-proudcts such as fly ash, silica fume and slag can reduce the amount of portland cement needed to make concrete, thereby reducing the amount of GHGs released to the atmosphere. The use of these supplementary cementing materials (SCM) can also enhance the long-term strength and durability of concrete. The intention of the EcoSmart{sup TM} Concrete Project is to develop sustainable concrete through innovation in supply, design and construction. In particular, the project focuses on finding a way to minimize the GHG signature of concrete by maximizing the replacement of portland cement in the concrete mix with SCM while improving the cost, performance and constructability. This paper describes the use of Ductal{sup R} Ultra High Performance Concrete (UHPC) for ramps in a condominium. It examined the relationship between the selection of UHPC and the overall environmental performance, cost, constructability maintenance and operational efficiency as it relates to the EcoSmart Program. The advantages and challenges of using UHPC were outlined. In addition to its very high strength, UHPC has been shown to have very good potential for GHG emission reduction due to the reduced material requirements, reduced transport costs and increased SCM content. refs., tabs., figs.

  9. Advancing the STMS genomic resources for defining new locations on the intraspecific genetic linkage map of chickpea (Cicer arietinum L.

    Shokeen Bhumika

    2011-02-01

    and the previously published chickpea intraspecific map, integration of maps was performed which revealed improvement of marker density and saturation of the region in the vicinity of sfl (double-podding gene thereby bringing about an advancement of the current map. Conclusion An arsenal of 181 new chickpea STMS markers was reported. The developed intraspecific linkage map defined map positions of 138 markers which included 101 new locations.Map integration with a previously published map was carried out which revealed an advanced map with improved density. This study is a major contribution towards providing advanced genomic resources which will facilitate chickpea geneticists and molecular breeders in developing superior genotypes with improved traits.

  10. Advancing the STMS genomic resources for defining new locations on the intraspecific genetic linkage map of chickpea (Cicer arietinum L.).

    Gaur, Rashmi; Sethy, Niroj K; Choudhary, Shalu; Shokeen, Bhumika; Gupta, Varsha; Bhatia, Sabhyata

    2011-02-17

    intraspecific map, integration of maps was performed which revealed improvement of marker density and saturation of the region in the vicinity of sfl (double-podding) gene thereby bringing about an advancement of the current map. An arsenal of 181 new chickpea STMS markers was reported. The developed intraspecific linkage map defined map positions of 138 markers which included 101 new locations.Map integration with a previously published map was carried out which revealed an advanced map with improved density. This study is a major contribution towards providing advanced genomic resources which will facilitate chickpea geneticists and molecular breeders in developing superior genotypes with improved traits.

  11. Haplotype analysis and linkage disequilibrium for DGAT1

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

    2010-01-01

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

  12. Learning and Competence Building through Cross-cultural Linkages

    Sørensen, Olav Jull

    2006-01-01

    The aim of the chapter is to study upgrading of companies in developing countries in a learning perspective. Both formal and experiential and tacit knowledge is discussed. Learning effects of different management modes, expatriates, linkages to customers and suppliers are discussed as are learning...... thorugh actual production as well as through explicit transfer of knowledge. The chapter in this way makes an attempt to provide an overview of the multiplicity og learning interfaces. It is concluded that the learning perspective need to be adressed more both by managers and scholars....

  13. Monetary Policy with Sectoral Linkages and Durable Goods

    Petrella, Ivan; Rossi, Raffaele; Santoro, Emiliano

    We study the normative implications of a New Keynesian model featuring intersectoral trade of intermediate goods between two sectors that produce durables and non-durables. The interplay between durability and sectoral production linkages fundamentally alters the intersectoral stabilization trade....... Aggregating durable and non-durable inflation depending on the relative degrees of sectoral price stickiness may induce a severe bias. Input materials attenuate the response of sectoral inflations to movements in the real marginal costs, so that the effective slopes of the sectoral supply schedules...

  14. Annotated genetic linkage maps of Pinus pinaster Ait. from a Central Spain population using microsatellite and gene based markers.

    de Miguel, Marina; de Maria, Nuria; Guevara, M Angeles; Diaz, Luis; Sáez-Laguna, Enrique; Sánchez-Gómez, David; Chancerel, Emilie; Aranda, Ismael; Collada, Carmen; Plomion, Christophe; Cabezas, José-Antonio; Cervera, María-Teresa

    2012-10-04

    Pinus pinaster Ait. is a major resin producing species in Spain. Genetic linkage mapping can facilitate marker-assisted selection (MAS) through the identification of Quantitative Trait Loci and selection of allelic variants of interest in breeding populations. In this study, we report annotated genetic linkage maps for two individuals (C14 and C15) belonging to a breeding program aiming to increase resin production. We use different types of DNA markers, including last-generation molecular markers. We obtained 13 and 14 linkage groups for C14 and C15 maps, respectively. A total of 211 and 215 markers were positioned on each map and estimated genome length was between 1,870 and 2,166 cM respectively, which represents near 65% of genome coverage. Comparative mapping with previously developed genetic linkage maps for P. pinaster based on about 60 common markers enabled aligning linkage groups to this reference map. The comparison of our annotated linkage maps and linkage maps reporting QTL information revealed 11 annotated SNPs in candidate genes that co-localized with previously reported QTLs for wood properties and water use efficiency. This study provides genetic linkage maps from a Spanish population that shows high levels of genetic divergence with French populations from which segregating progenies have been previously mapped. These genetic maps will be of interest to construct a reliable consensus linkage map for the species. The importance of developing functional genetic linkage maps is highlighted, especially when working with breeding populations for its future application in MAS for traits of interest.

  15. Annotated genetic linkage maps of Pinus pinaster Ait. from a Central Spain population using microsatellite and gene based markers

    de Miguel Marina

    2012-10-01

    Full Text Available Abstract Background Pinus pinaster Ait. is a major resin producing species in Spain. Genetic linkage mapping can facilitate marker-assisted selection (MAS through the identification of Quantitative Trait Loci and selection of allelic variants of interest in breeding populations. In this study, we report annotated genetic linkage maps for two individuals (C14 and C15 belonging to a breeding program aiming to increase resin production. We use different types of DNA markers, including last-generation molecular markers. Results We obtained 13 and 14 linkage groups for C14 and C15 maps, respectively. A total of 211 and 215 markers were positioned on each map and estimated genome length was between 1,870 and 2,166 cM respectively, which represents near 65% of genome coverage. Comparative mapping with previously developed genetic linkage maps for P. pinaster based on about 60 common markers enabled aligning linkage groups to this reference map. The comparison of our annotated linkage maps and linkage maps reporting QTL information revealed 11 annotated SNPs in candidate genes that co-localized with previously reported QTLs for wood properties and water use efficiency. Conclusions This study provides genetic linkage maps from a Spanish population that shows high levels of genetic divergence with French populations from which segregating progenies have been previously mapped. These genetic maps will be of interest to construct a reliable consensus linkage map for the species. The importance of developing functional genetic linkage maps is highlighted, especially when working with breeding populations for its future application in MAS for traits of interest.

  16. Medical group affiliations: interorganizational relationships and organizational performance.

    Rotarius, Timothy; Fottler, Myron D; Blair, John D

    2003-01-01

    The hyperturbulent health care environment is causing health care organizations to create interorganizational relationships (IORs). This article reports on a study of 686 medical groups that assessed how 11 types of IORs affected 7 dimensions of organizational performance. Organizational performance was ascertained through self-reported questions about performance relative to local market competitors. Respondents believed that, to varying degrees, all IORs lead to a competitive advantage over local competitors in all seven performance categories. There was no consistent pattern for either loose or tight linkages to be associated with superior performance. Consequently, loose linkages may be preferable to tighter linkages (i.e., membership in a fully integrated delivery system) that require higher levels of resource commitment.

  17. An Empirical Study of a Solo Performance Assessment Model

    Russell, Brian E.

    2015-01-01

    The purpose of this study was to test a hypothesized model of solo music performance assessment. Specifically, this study investigates the influence of technique and musical expression on perceptions of overall performance quality. The Aural Musical Performance Quality (AMPQ) measure was created to measure overall performance quality, technique,…

  18. A node linkage approach for sequential pattern mining.

    Osvaldo Navarro

    Full Text Available Sequential Pattern Mining is a widely addressed problem in data mining, with applications such as analyzing Web usage, examining purchase behavior, and text mining, among others. Nevertheless, with the dramatic increase in data volume, the current approaches prove inefficient when dealing with large input datasets, a large number of different symbols and low minimum supports. In this paper, we propose a new sequential pattern mining algorithm, which follows a pattern-growth scheme to discover sequential patterns. Unlike most pattern growth algorithms, our approach does not build a data structure to represent the input dataset, but instead accesses the required sequences through pseudo-projection databases, achieving better runtime and reducing memory requirements. Our algorithm traverses the search space in a depth-first fashion and only preserves in memory a pattern node linkage and the pseudo-projections required for the branch being explored at the time. Experimental results show that our new approach, the Node Linkage Depth-First Traversal algorithm (NLDFT, has better performance and scalability in comparison with state of the art algorithms.

  19. Availability of Insurance Linkage Programs in U.S. Emergency Departments

    Mia Kanak

    2014-07-01

    Full Text Available Introduction: As millions of uninsured citizens who use emergency department (ED services are now eligible for health insurance under the Affordable Care Act, the ED is ideally situated to facilitate linkage to insurance. Forty percent of U.S. EDs report having an insurance linkage program. This is the first national study to examine the characteristics of EDs that offer or do not offer these programs. Methods: This was a secondary analysis of data from the National Survey for Preventive Health Services in U.S. EDs conducted in 2008-09. We compared EDs with and without insurance programs across demographic and operational factors using univariate analysis. We then tested our hypotheses using multivariable logistic regression. We also further examined program capacity and priority among the sub-group of EDs with no insurance linkage program. Results: After adjustment, ED-insurance linkage programs were more likely to be located in the West (RR= 2.06, 95% CI = 1.33 – 2.72. The proportion of uninsured patients in an ED, teaching hospital status, and public ownership status were not associated with insurance linkage availability. EDs with linkage programs also offer more preventive services (RR = 1.87, 95% CI = 1.37–2.35 and have greater social worker availability (RR = 1.71, 95% CI = 1.12–2.33 than those who do not. Four of five EDs with a patient mix of ≥25% uninsured and no insurance linkage program reported that they could not offer a program with existing staff and funding. Conclusion: Availability of insurance linkage programs in the ED is not associated with the proportion of uninsured patients served by an ED. Policy or hospital-based interventions to increase insurance linkage should first target the 27% of EDs with high rates of uninsured patients that lack adequate program capacity. Further research on barriers to implementation and cost effectiveness may help to facilitate increased adoption of insurance linkage programs. [West J

  20. A SNP based high-density linkage map of Apis cerana reveals a high recombination rate similar to Apis mellifera.

    Yuan Yuan Shi

    Full Text Available BACKGROUND: The Eastern honey bee, Apis cerana Fabricius, is distributed in southern and eastern Asia, from India and China to Korea and Japan and southeast to the Moluccas. This species is also widely kept for honey production besides Apis mellifera. Apis cerana is also a model organism for studying social behavior, caste determination, mating biology, sexual selection, and host-parasite interactions. Few resources are available for molecular research in this species, and a linkage map was never constructed. A linkage map is a prerequisite for quantitative trait loci mapping and for analyzing genome structure. We used the Chinese honey bee, Apis cerana cerana to construct the first linkage map in the Eastern honey bee. RESULTS: F2 workers (N = 103 were genotyped for 126,990 single nucleotide polymorphisms (SNPs. After filtering low quality and those not passing the Mendel test, we obtained 3,000 SNPs, 1,535 of these were informative and used to construct a linkage map. The preliminary map contains 19 linkage groups, we then mapped the 19 linkage groups to 16 chromosomes by comparing the markers to the genome of A. mellfiera. The final map contains 16 linkage groups with a total of 1,535 markers. The total genetic distance is 3,942.7 centimorgans (cM with the largest linkage group (180 loci measuring 574.5 cM. Average marker interval for all markers across the 16 linkage groups is 2.6 cM. CONCLUSION: We constructed a high density linkage map for A. c. cerana with 1,535 markers. Because the map is based on SNP markers, it will enable easier and faster genotyping assays than randomly amplified polymorphic DNA or microsatellite based maps used in A. mellifera.

  1. Studies into the performance of solar stills

    Kupo, Francis

    1994-09-01

    This research was aimed at improving on distilled water production in the basin-type solar stills. Four similar stills were built with local materials.Results from this work indicated that for good performance of the basin-type solar still, a depth of 3.0cm should not be exceeded. The still, when covered throughout the night and put into operation the following day, increases the yield. Furthermore, sawdust has been found to be a good substitute for the traditional urethane foam as lagging material for the basin. Finally, purity analysis of the distillate revealed a conductivity range of 3.11 to 3.30us/cm, a pH range of 5.67 to 5.68 for different sources of water at 25°C. Silica content ranged from 0.03 to 0.057mg/i. Oxygen content was 0.4006mg/l. There was no residue present in the distillate. (au)

  2. Performance study of double SOI image sensors

    Miyoshi, T.; Arai, Y.; Fujita, Y.; Hamasaki, R.; Hara, K.; Ikegami, Y.; Kurachi, I.; Nishimura, R.; Ono, S.; Tauchi, K.; Tsuboyama, T.; Yamada, M.

    2018-02-01

    Double silicon-on-insulator (DSOI) sensors composed of two thin silicon layers and one thick silicon layer have been developed since 2011. The thick substrate consists of high resistivity silicon with p-n junctions while the thin layers are used as SOI-CMOS circuitry and as shielding to reduce the back-gate effect and crosstalk between the sensor and the circuitry. In 2014, a high-resolution integration-type pixel sensor, INTPIX8, was developed based on the DSOI concept. This device is fabricated using a Czochralski p-type (Cz-p) substrate in contrast to a single SOI (SSOI) device having a single thin silicon layer and a Float Zone p-type (FZ-p) substrate. In the present work, X-ray spectra of both DSOI and SSOI sensors were obtained using an Am-241 radiation source at four gain settings. The gain of the DSOI sensor was found to be approximately three times that of the SSOI device because the coupling capacitance is reduced by the DSOI structure. An X-ray imaging demonstration was also performed and high spatial resolution X-ray images were obtained.

  3. Prioritizing tiger conservation through landscape genetics and habitat linkages.

    Yumnam, Bibek; Jhala, Yadvendradev V; Qureshi, Qamar; Maldonado, Jesus E; Gopal, Rajesh; Saini, Swati; Srinivas, Y; Fleischer, Robert C

    2014-01-01

    Even with global support for tiger (Panthera tigris) conservation their survival is threatened by poaching, habitat loss and isolation. Currently about 3,000 wild tigers persist in small fragmented populations within seven percent of their historic range. Identifying and securing habitat linkages that connect source populations for maintaining landscape-level gene flow is an important long-term conservation strategy for endangered carnivores. However, habitat corridors that link regional tiger populations are often lost to development projects due to lack of objective evidence on their importance. Here, we use individual based genetic analysis in combination with landscape permeability models to identify and prioritize movement corridors across seven tiger populations within the Central Indian Landscape. By using a panel of 11 microsatellites we identified 169 individual tigers from 587 scat and 17 tissue samples. We detected four genetic clusters within Central India with limited gene flow among three of them. Bayesian and likelihood analyses identified 17 tigers as having recent immigrant ancestry. Spatially explicit tiger occupancy obtained from extensive landscape-scale surveys across 76,913 km(2) of forest habitat was found to be only 21,290 km(2). After accounting for detection bias, the covariates that best explained tiger occupancy were large, remote, dense forest patches; large ungulate abundance, and low human footprint. We used tiger occupancy probability to parameterize habitat permeability for modeling habitat linkages using least-cost and circuit theory pathway analyses. Pairwise genetic differences (FST) between populations were better explained by modeled linkage costs (r>0.5, p<0.05) compared to Euclidean distances, which was in consonance with observed habitat fragmentation. The results of our study highlight that many corridors may still be functional as there is evidence of contemporary migration. Conservation efforts should provide legal status

  4. Prioritizing tiger conservation through landscape genetics and habitat linkages.

    Bibek Yumnam

    Full Text Available Even with global support for tiger (Panthera tigris conservation their survival is threatened by poaching, habitat loss and isolation. Currently about 3,000 wild tigers persist in small fragmented populations within seven percent of their historic range. Identifying and securing habitat linkages that connect source populations for maintaining landscape-level gene flow is an important long-term conservation strategy for endangered carnivores. However, habitat corridors that link regional tiger populations are often lost to development projects due to lack of objective evidence on their importance. Here, we use individual based genetic analysis in combination with landscape permeability models to identify and prioritize movement corridors across seven tiger populations within the Central Indian Landscape. By using a panel of 11 microsatellites we identified 169 individual tigers from 587 scat and 17 tissue samples. We detected four genetic clusters within Central India with limited gene flow among three of them. Bayesian and likelihood analyses identified 17 tigers as having recent immigrant ancestry. Spatially explicit tiger occupancy obtained from extensive landscape-scale surveys across 76,913 km(2 of forest habitat was found to be only 21,290 km(2. After accounting for detection bias, the covariates that best explained tiger occupancy were large, remote, dense forest patches; large ungulate abundance, and low human footprint. We used tiger occupancy probability to parameterize habitat permeability for modeling habitat linkages using least-cost and circuit theory pathway analyses. Pairwise genetic differences (FST between populations were better explained by modeled linkage costs (r>0.5, p<0.05 compared to Euclidean distances, which was in consonance with observed habitat fragmentation. The results of our study highlight that many corridors may still be functional as there is evidence of contemporary migration. Conservation efforts should

  5. Linkage of α-cyclodextrin-terminated poly(dimethylsiloxanes by inclusion of quasi bifunctional ferrocene

    Helmut Ritter

    2013-07-01

    Full Text Available We report the noncovalent linkage of terminally substituted oligo(dimethylsiloxanes bearing α-cyclodextrins (α-CD as host end groups for the cyclopentadienyl rings of ferrocene. This double complexation of unsubstituted ferrocene leads to a supramolecuar formation of the siloxane strands. Structural characterization was performed by the use of 1H NMR and IR spectroscopy and by mass spectrometry. Electron microscopy studies and dynamic light scattering measurements show a significant decrease of the derivative size after the complexation with ferrocene. In addition, further evidence for the successful complexation of the end groups was verified by the shifts of the protons in the 1H NMR spectra and in the correlation signals of the 2D ROESY NMR spectra.

  6. Personality, Study Methods and Academic Performance

    Entwistle, N. J.; Wilson, J. D.

    1970-01-01

    A questionnaire measuring four student personality types--stable introvert, unstable introvert, stable extrovert and unstable extrovert--along with the Eysenck Personality Inventory (Form A) were give to 72 graduate students at Aberdeen University and the results showed recognizable interaction between study methods, motivation and personality…

  7. CONSIDERATIONS OVER THE METHODOLOGY OF FINANCIAL ANALYSIS AND ITS LINKAGE WITH BANKABILITY OF EUROPEAN FUNDED INVESTMENT PROJECTS

    TRENCA Ioan; PETRIA Nicolae; DROJ Laurentiu

    2012-01-01

    European funding is considered to be one of the hot topics in Romania and all over Eastern Europe since its novelty and its expected capacity to improve the life of the newly integrated European citizens. The linkages between the European Financial Support Programmes, the private financing performed by the banking sector and the private companies which are intending to use the structural funds to finance their investments is obvious. The present paper analyzed these linkages, creates a case s...

  8. Ethnicity and the ethics of data linkage

    Boyd Kenneth M

    2007-11-01

    Full Text Available Abstract Linking health data with census data on ethnicity has potential benefits for the health of ethnic minority groups. Ethical objections to linking these data however include concerns about informed consent and the possibility of the findings being misused against the interests of ethnic minority groups. While consent concerns may be allayed by procedures to safeguard anonymity and respect privacy, robust procedures to demonstrate public approval of data linkage also need to be devised. The possibility of findings being misused against the interests of ethnic minority groups may be diminished by informed and open public discussion in mature democracies, but remain a concern in the international context.

  9. Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis

    Bergen, A. A.; Samanns, C.; van Dorp, D. B.; Ferguson-Smith, M. A.; Gal, A.; Bleeker-Wagemakers, E. M.

    1990-01-01

    Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (theta max = 0.06, Zmax = 2.82), DXS278 (theta max = 0.03,

  10. Salmonid Chromosome Evolution as Revealed by a Novel Method for Comparing RADseq Linkage Maps

    Gosselin, Thierry; Normandeau, Eric; Lamothe, Manuel; Isabel, Nathalie; Audet, Céline; Bernatchez, Louis

    2016-01-01

    Whole genome duplication (WGD) can provide material for evolutionary innovation. Family Salmonidae is ideal for studying the effects of WGD as the ancestral salmonid underwent WGD relatively recently, ∼65 Ma, then rediploidized and diversified. Extensive synteny between homologous chromosome arms occurs in extant salmonids, but each species has both conserved and unique chromosome arm fusions and fissions. Assembly of large, outbred eukaryotic genomes can be difficult, but structural rearrangements within such taxa can be investigated using linkage maps. RAD sequencing provides unprecedented ability to generate high-density linkage maps for nonmodel species, but can result in low numbers of homologous markers between species due to phylogenetic distance or differences in library preparation. Here, we generate a high-density linkage map (3,826 markers) for the Salvelinus genera (Brook Charr S. fontinalis), and then identify corresponding chromosome arms among the other available salmonid high-density linkage maps, including six species of Oncorhynchus, and one species for each of Salmo, Coregonus, and the nonduplicated sister group for the salmonids, Northern Pike Esox lucius for identifying post-duplicated homeologs. To facilitate this process, we developed MapComp to identify identical and proximate (i.e. nearby) markers between linkage maps using a reference genome of a related species as an intermediate, increasing the number of comparable markers between linkage maps by 5-fold. This enabled a characterization of the most likely history of retained chromosomal rearrangements post-WGD, and several conserved chromosomal inversions. Analyses of RADseq-based linkage maps from other taxa will also benefit from MapComp, available at: https://github.com/enormandeau/mapcomp/ PMID:28173098

  11. A RAD-based linkage map and comparative genomics in the gudgeons (genus Gnathopogon, Cyprinidae

    Kakioka Ryo

    2013-01-01

    Full Text Available Abstract Background The construction of linkage maps is a first step in exploring the genetic basis for adaptive phenotypic divergence in closely related species by quantitative trait locus (QTL analysis. Linkage maps are also useful for comparative genomics in non-model organisms. Advances in genomics technologies make it more feasible than ever to study the genetics of adaptation in natural populations. Restriction-site associated DNA (RAD sequencing in next-generation sequencers facilitates the development of many genetic markers and genotyping. We aimed to construct a linkage map of the gudgeons of the genus Gnathopogon (Cyprinidae for comparative genomics with the zebrafish Danio rerio (a member of the same family as gudgeons and for the future QTL analysis of the genetic architecture underlying adaptive phenotypic evolution of Gnathopogon. Results We constructed the first genetic linkage map of Gnathopogon using a 198 F2 interspecific cross between two closely related species in Japan: river-dwelling Gnathopogon elongatus and lake-dwelling Gnathopogon caerulescens. Based on 1,622 RAD-tag markers, a linkage map spanning 1,390.9 cM with 25 linkage groups and an average marker interval of 0.87 cM was constructed. We also identified a region involving female-specific transmission ratio distortion (TRD. Synteny and collinearity were extensively conserved between Gnathopogon and zebrafish. Conclusions The dense SNP-based linkage map presented here provides a basis for future QTL analysis. It will also be useful for transferring genomic information from a “traditional” model fish species, zebrafish, to screen candidate genes underlying ecologically important traits of the gudgeons.

  12. Linkage Map of Lissotriton Newts Provides Insight into the Genetic Basis of Reproductive Isolation

    Marta Niedzicka

    2017-07-01

    Full Text Available Linkage maps are widely used to investigate structure, function, and evolution of genomes. In speciation research, maps facilitate the study of the genetic architecture of reproductive isolation by allowing identification of genomic regions underlying reduced fitness of hybrids. Here we present a linkage map for European newts of the Lissotriton vulgaris species complex, constructed using two families of F2 L. montandoni × L. vulgaris hybrids. The map consists of 1146 protein-coding genes on 12 linkage groups, equal to the haploid chromosome number, with a total length of 1484 cM (1.29 cM per marker. It is notably shorter than two other maps available for salamanders, but the differences in map length are consistent with cytogenetic estimates of the number of chiasmata per chromosomal arm. Thus, large salamander genomes do not necessarily translate into long linkage maps, as previously suggested. Consequently, salamanders are an excellent model to study evolutionary consequences of recombination rate variation in taxa with large genomes and a similar number of chromosomes. A complex pattern of transmission ratio distortion (TRD was detected: TRD occurred mostly in one family, in one breeding season, and was clustered in two genomic segments. This is consistent with environment-dependent mortality of individuals carrying L. montandoni alleles in these two segments and suggests a role of TRD blocks in reproductive isolation. The reported linkage map will empower studies on the genomic architecture of divergence and interactions between the genomes of hybridizing newts.

  13. A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer

    Middeldorp, Anneke; Wijnen, Juul T; Wezel, Tom van; Jagmohan-Changur, Shantie; Helmer, Quinta; Klift, Heleen M van der; Tops, Carli MJ; Vasen, Hans FA; Devilee, Peter; Morreau, Hans; Houwing-Duistermaat, Jeanine J

    2007-01-01

    The apparent dominant model of colorectal cancer (CRC) inheritance in several large families, without mutations in known CRC susceptibility genes, suggests the presence of so far unidentified genes with strong or moderate effect on the development of CRC. Linkage analysis could lead to identification of susceptibility genes in such families. In comparison to classical linkage analysis with multi-allelic markers, single nucleotide polymorphism (SNP) arrays have increased information content and can be processed with higher throughput. Therefore, SNP arrays can be excellent tools for linkage analysis. However, the vast number of SNPs on the SNP arrays, combined with large informative pedigrees (e.g. >35–40 bits), presents us with a computational complexity that is challenging for existing statistical packages or even exceeds their capacity. We therefore setup a procedure for linkage analysis in large pedigrees and validated the method by genotyping using SNP arrays of a colorectal cancer family with a known MLH1 germ line mutation. Quality control of the genotype data was performed in Alohomora, Mega2 and SimWalk2, with removal of uninformative SNPs, Mendelian inconsistencies and Mendelian consistent errors, respectively. Linkage disequilibrium was measured by SNPLINK and Merlin. Parametric linkage analysis using two flanking markers was performed using MENDEL. For multipoint parametric linkage analysis and haplotype analysis, SimWalk2 was used. On chromosome 3, in the MLH1-region, a LOD score of 1.9 was found by parametric linkage analysis using two flanking markers. On chromosome 11 a small region with LOD 1.1 was also detected. Upon linkage disequilibrium removal, multipoint linkage analysis yielded a LOD score of 2.1 in the MLH1 region, whereas the LOD score dropped to negative values in the region on chromosome 11. Subsequent haplotype analysis in the MLH1 region perfectly matched the mutation status of the family members. We developed a workflow for linkage

  14. A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16

    Asherson, P.; Zhou, K.; Anney, R. J. L.; Franke, B.; Buitelaar, J.; Ebstein, R.; Gill, M.; Altink, M.; Arnold, R.; Boer, F.; Brookes, K.; Buschgens, C.; Butler, L.; Cambell, D.; Chen, W.; Christiansen, H.; Feldman, L.; Fleischman, K.; Fliers, E.; Howe-Forbes, R.; Goldfarb, A.; Heise, A.; Gabrieels, I.; Johansson, L.; Lubetzki, I.; Marco, R.; Medad, S.; Minderaa, R.; Mulas, F.; Müller, U.; Mulligan, A.; Neale, B.; Rijsdijk, F.; Rabin, K.; Rommelse, N.; Sethna, V.; Sorohan, J.; Uebel, H.; Psychogiou, L.; Weeks, A.; Barrett, R.; Xu, X.; Banaschewski, T.; Sonuga-Barke, E.; Eisenberg, J.; Manor, I.; Miranda, A.; Oades, R. D.; Roeyers, H.; Rothenberger, A.; Sergeant, J.; Steinhausen, H-C; Taylor, E.; Thompson, M.; Faraone, S. V.

    As part of the International Multi-centre ADHD Genetics project we completed an affected sibling pair study of 142 narrowly defined Diagnostic and Statistical Manual of Mental Disorders, fourth edition combined type attention deficit hyperactivity disorder (ADHD) proband-sibling pairs. No linkage

  15. A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16

    Asherson, P.; Zhou, K.; Anney, R. J. L.; Franke, B.; Buitelaar, J.; Ebstein, R.; Gill, M.; Altink, M.; Arnold, R.; Boer, F.; Brookes, K.; Buschgens, C.; Butler, L.; Cambell, D.; Chen, W.; Christiansen, H.; Feldman, L.; Fleischman, K.; Fliers, E.; Howe-Forbes, R.; Goldfarb, A.; Heise, A.; Gabriëls, I.; Johansson, L.; Lubetzki, I.; Marco, R.; Medad, S.; Minderaa, R.; Mulas, F.; Müller, U.; Mulligan, A.; Neale, B.; Rijsdijk, F.; Rabin, K.; Rommelse, N.; Sethna, V.; Sorohan, J.; Uebel, H.; Psychogiou, L.; Weeks, A.; Barrett, R.; Xu, X.; Banaschewski, T.; Sonuga-Barke, E.; Eisenberg, J.; Manor, I.; Miranda, A.; Oades, R. D.; Roeyers, H.; Rothenberger, A.; Sergeant, J.; Steinhausen, H.-C.; Taylor, E.; Thompson, M.; Faraone, S. V.

    2008-01-01

    As part of the International Multi-centre ADHD Genetics project we completed an affected sibling pair study of 142 narrowly defined Diagnostic and Statistical Manual of Mental Disorders, fourth edition combined type attention deficit hyperactivity disorder (ADHD) proband-sibling pairs. No linkage

  16. A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16.

    Asherson, P.; Zhou, K.; Anney, R.; Franke, B.; Buitelaar, J.K.; Ebstein, R.P.; Gill, M.; Altink, M.E.; Arnold, R.; Boer, F.; Brookes, K.; Buschgens, C.J.M.; Butler, L.; Cambell, D.; Chen, W.; Christiansen, H.; Feldman, L.B.; Fleischman, K.; Fliers, E.A.; Howe-Forbes, R.; Goldfarb, A.; Heise, A.; Gabriels, I.; Johansson, L.; Lubetzki, I.; Marco, R.; Medad, S.; Minderaa, R.B.; Mulas, F.; Muller, U.; Mulligan, A.; Neale, B.; Rijsdijk, F.; Rabin, K.; Lambregts-Rommelse, N.N.J.; Sethna, V.; Sorohan, J.; Uebel, H.; Psychogiou, L.; Weeks, A.; Barrett, R.; Xu, X.; Banaschewski, T.; Sonuga-Barke, E.J.S.; Eisenberg, J.; Manor, I.; Miranda, A.; Oades, R.D.; Roeyers, H.; Rothenberger, A.; Sergeant, J.A.; Steinhausen, H.C.; Taylor, E.; Thompson, M.; Faraone, S.V.

    2008-01-01

    As part of the International Multi-centre ADHD Genetics project we completed an affected sibling pair study of 142 narrowly defined Diagnostic and Statistical Manual of Mental Disorders, fourth edition combined type attention deficit hyperactivity disorder (ADHD) proband-sibling pairs. No linkage

  17. Simulation and performance study of ceramic THGEM

    Yan, Jia-Qing; Xie, Yu-Guang; Hu, Tao; Lu, Jun-Guang; Zhou, Li; Qu, Guo-Pu; Cai, Xiao; Niu, Shun-Li; Chen, Hai-Tao

    2015-06-01

    THGEMs based on a ceramic substrate have been successfully developed for neutron and single photon detection. The influences on thermal neutron scattering and internal radioactivity of both ceramic and FR-4 substrates were studied and compared. The ceramic THGEMs are homemade, of 200 μm hole diameter, 600 μm pitch, 200 μm thickness, 80 μm rim, and 50 mm×50 mm sensitive area. FR-4 THGEMs with the same geometry were used as a reference. The gas gain, energy resolution and gain stability were measured in different gas mixtures using 5.9 keV X-rays. The maximum gain of a single layer ceramic THGEM reaches 6×104 and 1.5×104 at Ne+CH4=95:5 and Ar + i-C4H10 = 97:3, respectively. The energy resolution is better than 24%. Good gain stability was obtained during a more than 100 hour continuous test in Ar+CO2 = 80:20. By using a 239Pu source, the alpha deposited energy spectrum and gain curve of the ceramic THGEM were measured. Supported by National Natural Science Foundation of China (11205173) and State Key Laboratory of Particle Detection and Electronics (H9294206TD)

  18. HLA region excluded by linkage analyses of early onset periodontitis

    Sun, C.; Wang, S.; Lopez, N.

    1994-09-01

    Previous studies suggested that HLA genes may influence susceptibility to early-onset periodontitis (EOP). Segregation analyses indicate that EOP may be due to a single major gene. We conducted linkage analyses to assess possible HLA effects on EOP. Fifty families with two or more close relatives affected by EOP were ascertained in Virginia and Chile. A microsatellite polymorphism within the HLA region (at the tumor necrosis factor beta locus) was typed using PCR. Linkage analyses used a donimant model most strongly supported by previous studies. Assuming locus homogeneity, our results exclude a susceptibility gene within 10 cM on either side of our marker locus. This encompasses all of the HLA region. Analyses assuming alternative models gave qualitatively similar results. Allowing for locus heterogeneity, our data still provide no support for HLA-region involvement. However, our data do not statistically exclude (LOD <-2.0) hypotheses of disease-locus heterogeneity, including models where up to half of our families could contain an EOP disease gene located in the HLA region. This is due to the limited power of even our relatively large collection of families and the inherent difficulties of mapping genes for disorders that have complex and heterogeneous etiologies. Additional statistical analyses, recruitment of families, and typing of flanking DNA markers are planned to more conclusively address these issues with respect to the HLA region and other candidate locations in the human genome. Additional results for markers covering most of the human genome will also be presented.

  19. Dual-Routine HCV/HIV Testing: Seroprevalence and Linkage to Care in Four Community Health Centers in Philadelphia, Pennsylvania.

    Coyle, Catelyn; Kwakwa, Helena

    2016-01-01

    Despite common risk factors, screening for hepatitis C virus (HCV) and HIV at the same time as part of routine medical care (dual-routine HCV/HIV testing) is not commonly implemented in the United States. This study examined improvements in feasibility of implementation, screening increase, and linkage to care when a dual-routine HCV/HIV testing model was integrated into routine primary care. National Nursing Centers Consortium implemented a dual-routine HCV/HIV testing model at four community health centers in Philadelphia, Pennsylvania, on September 1, 2013. Routine HCV and opt-out HIV testing replaced the routine HCV and opt-in HIV testing model through medical assistant-led, laboratory-based testing and electronic medical record modification to prompt, track, report, and facilitate reimbursement for tests performed on uninsured individuals. This study examined testing, seropositivity, and linkage-to-care comparison data for the nine months before (December 1, 2012-August 31, 2013) and after (September 1, 2013-May 31, 2014) implementation of the dual-routine HCV/HIV testing model. A total of 1,526 HCV and 1,731 HIV tests were performed before, and 1,888 HCV and 3,890 HIV tests were performed after dual-routine testing implementation, resulting in a 23.7% increase in HCV tests and a 124.7% increase in HIV tests. A total of 70 currently HCV-infected and four new HIV-seropositive patients vs. 101 HCV-infected and 13 new HIV-seropositive patients were identified during these two periods, representing increases of 44.3% for HCV antibody-positive and RNA-positive tests and 225.0% for HIV-positive tests. Linkage to care increased from 27 currently infected HCV--positive and one HIV-positive patient pre-dual-routine testing to 39 HCV--positive and nine HIV-positive patients post-dual-routine testing. The dual-routine HCV/HIV testing model shows that integrating dual-routine testing in a primary care setting is possible and leads to increased HCV and HIV screening

  20. A microsatellite linkage map for Drosophila montana shows large variation in recombination rates, and a courtship song trait maps to an area of low recombination.

    Schäfer, M A; Mazzi, D; Klappert, K; Kauranen, H; Vieira, J; Hoikkala, A; Ritchie, M G; Schlötterer, C

    2010-03-01

    Current advances in genetic analysis are opening up our knowledge of the genetics of species differences, but challenges remain, particularly for out-bred natural populations. We constructed a microsatellite-based linkage map for two out-bred lines of Drosophila montana derived from divergent populations by taking advantage of the Drosophila virilis genome and available cytological maps of both species. Although the placement of markers was quite consistent with cytological predictions, the map indicated large heterogeneity in recombination rates along chromosomes. We also performed a quantitative trait locus (QTL) analysis on a courtship song character (carrier frequency), which differs between populations and is subject to strong sexual selection. Linkage mapping yielded two significant QTLs, which explained 3% and 14% of the variation in carrier frequency, respectively. Interestingly, as in other recent studies of traits which can influence speciation, the strongest QTL mapped to a genomic region partly covered by an inversion polymorphism.

  1. Strike-slip tectonics during rift linkage

    Pagli, C.; Yun, S. H.; Ebinger, C.; Keir, D.; Wang, H.

    2017-12-01

    The kinematics of triple junction linkage and the initiation of transforms in magmatic rifts remain debated. Strain patterns from the Afar triple junction provide tests of current models of how rifts grow to link in area of incipient oceanic spreading. Here we present a combined analysis of seismicity, InSAR and GPS derived strain rate maps to reveal that the plate boundary deformation in Afar is accommodated primarily by extensional tectonics in the Red Sea and Gulf of Aden rifts, and does not require large rotations about vertical axes (bookshelf faulting). Additionally, models of stress changes and seismicity induced by recent dykes in one sector of the Afar triple junction provide poor fit to the observed strike-slip earthquakes. Instead we explain these patterns as rift-perpendicular shearing at the tips of spreading rifts where extensional strains terminate against less stretched lithosphere. Our results demonstrate that rift-perpendicular strike-slip faulting between rift segments achieves plate boundary linkage during incipient seafloor spreading.

  2. Data linkage of inpatient hospitalization and workers' claims data sets to characterize occupational falls.

    Bunn, Terry L; Slavova, Svetla; Bathke, Arne

    2007-07-01

    The identification of industry, occupation, and associated injury costs for worker falls in Kentucky have not been fully examined. The purpose of this study was to determine the associations between industry and occupation and 1) hospitalization length of stay; 2) hospitalization charges; and 3) workers' claims costs in workers suffering falls, using linked inpatient hospitalization discharge and workers' claims data sets. Hospitalization cases were selected with ICD-9-CM external cause of injury codes for falls and payer code of workers' claims for years 2000-2004. Selection criteria for workers'claims cases were International Association of Industrial Accident Boards and Commissions Electronic Data Interchange Nature (IAIABCEDIN) injuries coded as falls and/or slips. Common data variables between the two data sets such as date of birth, gender, date of injury, and hospital admission date were used to perform probabilistic data linkage using LinkSolv software. Statistical analysis was performed with non-parametric tests. Construction falls were the most prevalent for male workers and incurred the highest hospitalization and workers' compensation costs, whereas most female worker falls occurred in the services industry. The largest percentage of male worker falls was from one level to another, while the largest percentage of females experienced a fall, slip, or trip (not otherwise classified). When male construction worker falls were further analyzed, laborers and helpers had longer hospital stays as well as higher total charges when the worker fell from one level to another. Data linkage of hospitalization and workers' claims falls data provides additional information on industry, occupation, and costs that are not available when examining either data set alone.

  3. Consistency vs. contingency of trait-performance linkages across taxa

    Goldberg, D.; Wildová, Radka; Herben, Tomáš

    2008-01-01

    Roč. 22, č. 3 (2008), s. 477-481 ISSN 0269-7653 Institutional research plan: CEZ:AV0Z60050516 Keywords : clonal plants * optimality models * interactions among traits * plant architecture Subject RIV: EF - Botanics Impact factor: 3.448, year: 2008

  4. [Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia].

    Zeng, Li-ping; Hu, Zheng-mao; Mu, Li-li; Mei, Gui-sen; Lu, Xiu-ling; Zheng, Yong-jun; Li, Pei-jian; Zhang, Ying-xue; Pan, Qian; Long, Zhi-gao; Dai, He-ping; Zhang, Zhuo-hua; Xia, Jia-hui; Zhao, Jing-ping; Xia, Kun

    2011-06-01

    To investigate the relationship of susceptibility loci in chromosomes 1q21-25 and 6p21-25 and schizophrenia subtypes in Chinese population. A genomic scan and parametric and non-parametric analyses were performed on 242 individuals from 36 schizophrenia pedigrees, including 19 paranoid schizophrenia and 17 undifferentiated schizophrenia pedigrees, from Henan province of China using 5 microsatellite markers in the chromosome region 1q21-25 and 8 microsatellite markers in the chromosome region 6p21-25, which were the candidates of previous studies. All affected subjects were diagnosed and typed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-IV-TR; American Psychiatric Association, 2000). All subjects signed informed consent. In chromosome 1, parametric analysis under the dominant inheritance mode of all 36 pedigrees showed that the maximum multi-point heterogeneity Log of odds score method (HLOD) score was 1.33 (α = 0.38). The non-parametric analysis and the single point and multi-point nonparametric linkage (NPL) scores suggested linkage at D1S484, D1S2878, and D1S196. In the 19 paranoid schizophrenias pedigrees, linkage was not observed for any of the 5 markers. In the 17 undifferentiated schizophrenia pedigrees, the multi-point NPL score was 1.60 (P= 0.0367) at D1S484. The single point NPL score was 1.95(P= 0.0145) and the multi-point NPL score was 2.39 (P= 0.0041) at D1S2878. Additionally, the multi-point NPL score was 1.74 (P= 0.0255) at D1S196. These same three loci showed suggestive linkage during the integrative analysis of all 36 pedigrees. In chromosome 6, parametric linkage analysis under the dominant and recessive inheritance and the non-parametric linkage analysis of all 36 pedigrees and the 17 undifferentiated schizophrenia pedigrees, linkage was not observed for any of the 8 markers. In the 19 paranoid schizophrenias pedigrees, parametric analysis showed that under recessive

  5. Psychological Determinants of University Students' Academic Performance: An Empirical Study

    Gebka, Bartosz

    2014-01-01

    This study utilises an integrated conceptual model of academic performance which captures a series of psychological factors: cognitive style; self-theories such as self-esteem and self-efficacy; achievement goals such as mastery, performance, performance avoidance and work avoidance; study-processing strategies such as deep and surface learning;…

  6. Optimizing Opt-Out Consent for Record Linkage

    Das Marcel

    2014-09-01

    Full Text Available This article reports on a study testing the effects of different ways of administering an opt-out consent for record linkage in a probability-based Internet panel. First, we conducted cognitive interviews to explore reactions to a draft version of the opt-out consent text. Second, we conducted a two-factor experiment to test the effects of content manipulations and mode. The results indicate that the way in which respondents were informed did not have much effect on opting out. Results from a follow-up survey on attitudes regarding privacy, confidentiality, and trust, along with knowledge questions about the process of linking, showed no evidence that presenting the opt-out consent statement makes respondents more concerned about privacy. Knowledge about the aspects of record linkage is generally not high. When looking at long-term effects of sending an opt-out consent statement, we found no evidence that this leads to higher attrition or lower participation rates.

  7. Construction of a reference molecular linkage map of globe artichoke (Cynara cardunculus var. scolymus).

    Portis, E; Mauromicale, G; Mauro, R; Acquadro, A; Scaglione, D; Lanteri, S

    2009-12-01

    The genome organization of globe artichoke (Cynara cardunculus var. scolymus), unlike other species belonging to Asteraceae (=Compositae) family (i.e. sunflower, lettuce and chicory), remains largely unexplored. The species is highly heterozygous and suffers marked inbreeding depression when forced to self-fertilize. Thus a two-way pseudo-testcross represents the optimal strategy for linkage analysis. Here, we report linkage maps based on the progeny of a cross between globe artichoke (C. cardunculus var. scolymus) and cultivated cardoon (C. cardunculus var. altilis). The population was genotyped using a variety of PCR-based marker platforms, resulting in the identification of 708 testcross markers suitable for map construction. The male map consisted of 177 loci arranged in 17 major linkage groups, spanning 1,015.5 cM, while female map was built with 326 loci arranged into 20 major linkage groups, spanning 1,486.8 cM. The presence of 84 loci shared between these maps and those previously developed from a cross within globe artichoke allowed for map alignment and the definition of 17 homologous linkage groups, corresponding to the haploid number of the species. This will provide a favourable property for QTL scanning; furthermore, as 25 mapped markers (8%) correspond to coding regions, it has an additional value as functional map and might represent an important genetic tool for candidate gene studies in globe artichoke.

  8. African American church-based HIV testing and linkage to care: assets, challenges and needs.

    Stewart, Jennifer M; Thompson, Keitra; Rogers, Christopher

    2016-01-01

    The US National HIV AIDS strategy promotes the use of faith communities to lessen the burden of HIV in African American communities. One specific strategy presented is the use of these non-traditional venues for HIV testing and co-location of services. African American churches can be at the forefront of this endeavour through the provision of HIV testing and linkage to care. However, there are few interventions to promote the churches' involvement in both HIV testing and linkage to care. We conducted 4 focus groups (n = 39 participants), 4 interviews and 116 surveys in a mixed-methods study to examine the feasibility of a church-based HIV testing and linkage to care intervention in Philadelphia, PA, USA. Our objectives were to examine: (1) available assets, (2) challenges and barriers and (3) needs associated with church-based HIV testing and linkage to care. Analyses revealed several factors of importance, including the role of the church as an access point for testing in low-income neighbourhoods, challenges in openly discussing the relationship between sexuality and HIV, and buy-in among church leadership. These findings can support intervention development and necessitate situating African American church-based HIV testing and linkage to care interventions within a multi-level framework.

  9. Short Communication: Genetic linkage map of Cucurbita maxima with molecular and morphological markers.

    Ge, Y; Li, X; Yang, X X; Cui, C S; Qu, S P

    2015-05-22

    Cucurbita maxima is one of the most widely cultivated vegetables in China and exhibits distinct morphological characteristics. In this study, genetic linkage analysis with 57 simple-sequence repeats, 21 amplified fragment length polymorphisms, 3 random-amplified polymorphic DNA, and one morphological marker revealed 20 genetic linkage groups of C. maxima covering a genetic distance of 991.5 cM with an average of 12.1 cM between adjacent markers. Genetic linkage analysis identified the simple-sequence repeat marker 'PU078072' 5.9 cM away from the locus 'Rc', which controls rind color. The genetic map in the present study will be useful for better mapping, tagging, and cloning of quantitative trait loci/gene(s) affecting economically important traits and for breeding new varieties of C. maxima through marker-assisted selection.

  10. Name segmentation using hidden Markov models and its application in record linkage

    Rita de Cassia Braga Gonçalves

    2014-10-01

    Full Text Available This study aimed to evaluate the use of hidden Markov models (HMM for the segmentation of person names and its influence on record linkage. A HMM was applied to the segmentation of patient’s and mother’s names in the databases of the Mortality Information System (SIM, Information Subsystem for High Complexity Procedures (APAC, and Hospital Information System (AIH. A sample of 200 patients from each database was segmented via HMM, and the results were compared to those from segmentation by the authors. The APAC-SIM and APAC-AIH databases were linked using three different segmentation strategies, one of which used HMM. Conformity of segmentation via HMM varied from 90.5% to 92.5%. The different segmentation strategies yielded similar results in the record linkage process. This study suggests that segmentation of Brazilian names via HMM is no more effective than traditional segmentation approaches in the linkage process.

  11. Genome-wide linkage scan for factors of metabolic syndrome in a Chinese population

    Chan Juliana CN

    2010-02-01

    Full Text Available Abstract Background Shared genetic factors may contribute to the phenotypic clustering of different components of the metabolic syndrome (MES. This study aims to identify genetic loci that contribute to individual or multiple factors related to MES. Results We studied 478 normoglycemic subjects ascertained through 163 families participating in the Hong Kong Family Diabetes Study. Factor analysis on 15 MES-related traits yielded 6 factors including adiposity factor (body mass index, waist and hip circumferences, insulin factor (fasting insulin and insulin AUC during OGTT, glucose factor (fasting glucose and glucose AUC during OGTT, TC-LDLC factor (total cholesterol and LDL-cholesterol, blood pressure factor (systolic and diastolic blood pressure and TG-HDLC factor (triglycerides and HDL-cholesterol. Genome-wide linkage analyses were performed on these factors using variance component approach. Suggestive evidence for linkage (LOD = 1.24 - 2.46 were observed for adiposity factor (chromosome 1 at 187 cM, chromosome 9 at 34 cM and chromosome 17 at 10 cM, insulin factor (chromosome 2 at 128 cM, chromosome 5 at 21 cM and chromosome 12 at 7 cM, glucose factor (chromosome 7 at 155 cM, TC-LDLC factor (chromosome 7 at 151 cM and chromosome 13 at 15 cM and TG-HDLC factor (chromosome 7 at 155 cM. Conclusions In summary, our findings suggest the presence of susceptibility loci that influence either single (chromosomes 1, 2, 5, 9, 12, 13 and 17 or multiple factors (chromosome 7 for MES in Hong Kong Chinese without diabetes.

  12. High Performance Work System, HRD Climate and Organisational Performance: An Empirical Study

    Muduli, Ashutosh

    2015-01-01

    Purpose: This paper aims to study the relationship between high-performance work system (HPWS) and organizational performance and to examine the role of human resource development (HRD) Climate in mediating the relationship between HPWS and the organizational performance in the context of the power sector of India. Design/methodology/approach: The…

  13. Analysis of sulfidic linkages formed in natural rubber latex medical gloves by using X-ray absorption near edge structure

    Chankrachang, M.; Limphirat, W.; Yongyingsakthavorn, P.; Nontakaew, U.; Tohsan, A.

    2017-09-01

    A study of sulfidic linkages formed in natural rubber (NR) latex medical gloves by using X-ray Absorption Near Edge Structure (XANES) is presented in this paper. The NR latex compound was prepared by using prevulcanization method, that is, it was prevulcanized at room temperature for 24 hrs before utilization. After the 24 hrs of prevulcanization, the latex film samples were obtained by dipping process. The dipped films were subjected to vulcanize at 110°C for 5 to 25 min. It was observed that after the compound was prevulcanized for 24 hrs, polysulfidic linkages were mainly formed in the sample. It was however found that after curing at 110°C for 5-25 min, the polysulfidic linkages are tended to change into disulfide linkages. Especially, in the case of 25 minutes cured sample, disulfide linkages are found to be the main linkages. In term of tensile strength, it was observed that when cure time increased from 5 - 10 min, tensile strengths were also increased. But when the cure time of the film is 25 minutes, tensile strength was slightly dropped. The dropped of tensile strength when cure time is longer than 10 minutes can be ascribed to a degradation of polysulfidic and disulfidic linkages during curing. Therefore, by using XANES analysis, it was found to be very useful to understand the cure characteristic, thus it can be very helpful to optimize cure time and tensile properties of the product.

  14. Malaria Laboratory Diagnostic Performance: Case studies of two ...

    Advantages of rapid diagnostic tests when compared with microscopy are simple to perform, fast, low ... The study was conducted to establish the performance of laboratory diagnosis of malaria in local Malawi .... Government of Malawi.

  15. Application Performance Management Impact On Organizational Performance Local Company Studies In West Java - Indonesia

    Teni Listiani

    2015-02-01

    Full Text Available Abstract This study aimed to analyze the effect on the performance of the companys performance management area. Management performance is measured through three dimensions performance planning performance assessment and feeding it behind. While organizational performance is measured through four dimensions financial perspective customer perspective internal business processes and learning and growth perspective. The unit of analysis in this research area comprising 30 companies from 23 taps 6 PD Market and 1 PD Health. Meanwhile the unit of observation is the top-middle-level managers-down of a total of 360 people. To determine the influence of the variables studied used Structural Equation Model SEM based on the model variant with Partial Least Square PLS. The results showed that in the enterprise area performance management affect the performance of the organization but the effect is not too large.

  16. Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant coloboma

    Hess, E.J.; Rogan, P.K.; Domoto, M. [Pennsylvania State Univ. College of Medicine, Hershey, PA (United States)] [and others

    1995-12-18

    Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best fitting model was a sex-influenced, single gene, Mendelian pattern. Several genetic models were evaluated based on estimates of penetrance, phenocopy rate, and allele frequency derived from our patient population and those of other investigators. No significant linkage was detected between the disease locus and markers spanning this chromosome 20 interval. 39 refs., 2 figs., 1 tab.

  17. Definitive evidence for Ufd2-catalyzed elongation of the ubiquitin chain through Lys48 linkage

    Saeki, Yasushi; Tayama, Yoko; Toh-e, Akio; Yokosawa, Hideyoshi

    2004-01-01

    Saccharomyces cerevisiae Ufd2 is a ubiquitin chain elongation factor in the ubiquitin fusion degradation (UFD) pathway and functions in stress tolerance. A recent study has suggested that the mammalian Ufd2 homologue UFD2a catalyzes formation of Lys27- and Lys33-linked polyubiquitin chains rather than the Lys48-linked chain, but the linkage type of the polyubiquitin chain formed by yeast Ufd2 remains unclear. To determine the property of Ufd2, we reconstituted the UFD pathway using purified enzymes from yeast. Direct determination of the ubiquitin chain linkage type in polyubiquitinated UFD substrates by MALDI-TOF mass spectrometry revealed that Ufd2 catalyzes elongation of the ubiquitin chain through Lys48 linkage

  18. SNP-based linkage mapping for validation of QTLs for resistance to ascochyta blight in lentil

    Shimna Sudheesh

    2016-11-01

    Full Text Available Lentil (Lens culinaris Medik. is a self-pollinating, diploid, annual, cool-season, food legume crop that is cultivated throughout the world. Ascochyta blight (AB, caused by Ascochyta lentis Vassilievsky, is an economically important and widespread disease of lentil. Development of cultivars with high levels of durable resistance provides an environmentally acceptable and economically feasible method for AB control. A detailed understanding of the genetic basis of AB resistance is hence highly desirable, in order to obtain insight into the number and influence of resistance genes. Genetic linkage maps based on single nucleotide polymorphisms (SNP and simple sequence repeat (SSR markers have been developed from three recombinant inbred line (RIL populations. The IH x NF map contained 460 loci across 1461.6 cM, while the IH x DIG map contained 329 loci across 1302.5 cM and the third map, NF x DIG contained 330 loci across 1914.1 cM. Data from these maps were combined with a map from a previously published study through use of bridging markers to generate a consensus linkage map containing 689 loci distributed across 7 linkage groups (LGs, with a cumulative length of 2429.61 cM at an average density of one marker per 3.5 cM. Trait dissection of AB resistance was performed for the RIL populations, identifying totals of two and three quantitative trait loci (QTLs explaining 52% and 69% of phenotypic variation for resistance to infection in the IH x DIG and IH x NF populations, respectively. Presence of common markers in the vicinity of the AB_IH1- and AB_IH2.1/AB_IH2.2-containing regions on both maps supports the inference that a common genomic region is responsible for conferring resistance and is associated with the resistant parent, Indianhead. The third QTL was derived from Northfield. Evaluation of markers associated with AB resistance across a diverse lentil germplasm panel revealed that the identity of alleles associated with AB_IH1 predicted

  19. Design, modeling and optimization of an underwater manipulator with four-bar mechanism and compliant linkage

    Jin, Sang Ok; Kim, Ji Hoon; Bae, Jang Ho; Kim, Jong Won [School of Mechanical and Aerospace Engineering, Seoul National University, Seoul (Korea, Republic of); Seo, Tae Won [School of Mechanical Engineering, Yeungnam University, Gyeongsan (Korea, Republic of)

    2016-09-15

    Underwater manipulators are very important for a robot to perform a specific operation in water. Conventional robot arm manipulators have been suggested for various operations but have not been suitable for repeated motion in gathering something. This paper presents a new underwater manipulator design for gathering things such as starfish on the sea floor. The manipulator is composed of a four-bar linkage to achieve repeated motion along a loop and compliant linkages to enhance the efficiency of the gathering work. Kinematic and quasi-static analyses were performed to calculate the loop path and the reaction force at the actuation point. Based on the analysis, optimal design was performed to maximize the working distance with the height difference and the reaction moments considered as constraints. A prototype was assembled to test the performance of the manipulator, and the empirical loop path was compared to simulation results.

  20. Design, modeling and optimization of an underwater manipulator with four-bar mechanism and compliant linkage

    Jin, Sang Ok; Kim, Ji Hoon; Bae, Jang Ho; Kim, Jong Won; Seo, Tae Won

    2016-01-01

    Underwater manipulators are very important for a robot to perform a specific operation in water. Conventional robot arm manipulators have been suggested for various operations but have not been suitable for repeated motion in gathering something. This paper presents a new underwater manipulator design for gathering things such as starfish on the sea floor. The manipulator is composed of a four-bar linkage to achieve repeated motion along a loop and compliant linkages to enhance the efficiency of the gathering work. Kinematic and quasi-static analyses were performed to calculate the loop path and the reaction force at the actuation point. Based on the analysis, optimal design was performed to maximize the working distance with the height difference and the reaction moments considered as constraints. A prototype was assembled to test the performance of the manipulator, and the empirical loop path was compared to simulation results

  1. A Case Study of Teaching Musical Expression to Young Performers

    Brenner, Brenda; Strand, Katherine

    2013-01-01

    What does it mean to teach musical expression to child performers? Is it teaching how to interpret a piece of music "correctly," or is there more involved? In this case study, we explored the beliefs and practices of five teachers who specialized in teaching children to perform in a variety of musical performance areas, including violin,…

  2. A Comparative Study of Electronic Performance Support Systems

    Nguyen, Frank; Klein, James D.; Sullivan, Howard

    2005-01-01

    Electronic performance support systems (EPSS) deliver relevant support information to users while they are performing tasks. The present study examined the effect of different types of EPSS on user performance, attitudes, system use and time on task. Employees at a manufacturing company were asked to complete a procedural software task and…

  3. Problems of Clinical Nurse Performance Appraisal System: A Qualitative Study

    Nasrin Nikpeyma

    2014-03-01

    Conclusion: The findings of this study reveal that the nurse performance appraisal system confronts with various problems. Some of these problems are related to organizational context while the others concerned structure, process and results of the performance appraisal system. In order to achieve high quality of patient care as the final goal of performance appraisal, changing and revision of this system is necessary.

  4. A Study of the Journey from Training to Performance.

    Rossett, Allison; Tobias, Catherine

    1999-01-01

    This study questioned progress in the shift from training to performance. A survey administered to 62 training and performance professionals queried respondents about concepts relevant to performance: analysis, solution systems, cross-functionality, customer and collegial expectations, and shared knowledge. Overall, results showed that…

  5. Candidate gene linkage approach to identify DNA variants that predispose to preterm birth

    Bream, Elise N A; Leppellere, Cara R; Cooper, Margaret E

    2013-01-01

    Background:The aim of this study was to identify genetic variants contributing to preterm birth (PTB) using a linkage candidate gene approach.Methods:We studied 99 single-nucleotide polymorphisms (SNPs) for 33 genes in 257 families with PTBs segregating. Nonparametric and parametric analyses were...... through the infant and/or the mother in the etiology of PTB....

  6. Impact of firm-level factors and market entry mode on performance: A study of service MNCs in an emerging economy

    George Acheampong

    2012-04-01

    Full Text Available The study examined the market entry strategies of multinational services companies into Ghana’s service sector and the linkages to firm level performance after entry. Literature was reviewed on market entry strategies, internationalisation, globalisation of service firms and resource-based theory. The study adopted a combination of both quantitative and qualitative research approaches in this study. The qualitative approach was for deeper enquiry and quantitative for empirical testing. The study found that firm specific factors affect the market entry strategy while the entry strategy also affects performance after it enters the market. Home country factors and the features of services are also seen to moderate on the effects mentioned. Respondents also indicated that the features of services were an industry wide issue not so much consideration is given to it.

  7. Electrostatic microactuators with integrated gear linkages for mechanical power transmission

    Legtenberg, R.; Legtenberg, Rob; Berenschot, Johan W.; Elwenspoek, Michael Curt; Fluitman, J.H.J.

    1996-01-01

    In this paper a surface micromachining process is presented which has been used to fabricate electrostatic microactuators that are interconnected with each other and linked to other movable microstructures by integrated gear linkages. The gear linkages consist of rotational and linear gear

  8. Identifying and Mapping Linkages between Actors in the Climate ...

    Promoting innovations in climate change requires innovation partnerships and linkages and also creating an enabling environment for actors. The paper reviewed available information on the identification and mapping of linkages between actors in the climate change innovation system. The findings showed different ...

  9. Agriculture–Tourism Linkages in Botswana: Evidence from the ...

    Tourism researchers are increasingly recognising that strengthened linkages between the sectors of tourism and agriculture are significant for maximising local multipliers and especially for pro-poor impacts. This article examines the linkages between the tourism and agriculture sectors in Botswana using evidence ...

  10. The Hepatitis Testing and Linkage-to-Care Data Review Process: An Approach to Ensuring the Quality of Program Data.

    Mezzo, Jennifer L; Lamia, Tamara L; Danelski, Lisa L; Schipani, Anne Marie; Stokes, Scott A; Jacobs-Ware, Elizabeth D

    2016-01-01

    CDC's 2012 Hepatitis Testing and Linkage to Care (HepTLC) initiative was a nationally coordinated effort to conduct hepatitis B and hepatitis C screening, posttest counseling, and linkage to care at 34 U.S. sites. This project provided support for data management and monthly data reviews between awardees and a data manager, which facilitated monitoring of awardee progress and regular program improvement opportunities. CDC provided technical assistance to awardees for testing processes and program improvement, including Internet-based data submission, reporting software and data management to awardees, offering assistance with submitting, and reviewing data in real time. We describe how one awardee, AIDS Resource Center of Wisconsin (ARCW), used the data management process to improve data quality, inform testing processes and implementation, and measure and report missing variables from an online database. From October 2012 through July 2014, ARCW performed 2,255 HCV antibody (anti-HCV) tests and 244 HCV ribonucleic acid (RNA) tests as part of the HepTLC initiative. Participants who tested HCV RNA positive (n=189) were referred to medical care. At the end of the study, no records were missing for the anti-HCV test result or HCV RNA test result variables, and only one record was missing for those who were referred to medical care. Regular data review and monitoring by awardees and CDC-supported data managers provided opportunities for data quality and program improvement. Through regular data review, ARCW reduced the amount of missing data and promoted timely follow-up with participants testing positive for HCV to ensure receipt of results and linkage to care. Other programs can adopt a similar data management model.

  11. A second-generation anchored genetic linkage map of the tammar wallaby (Macropus eugenii

    Patel Hardip R

    2011-08-01

    Full Text Available Abstract Background The tammar wallaby, Macropus eugenii, a small kangaroo used for decades for studies of reproduction and metabolism, is the model Australian marsupial for genome sequencing and genetic investigations. The production of a more comprehensive cytogenetically-anchored genetic linkage map will significantly contribute to the deciphering of the tammar wallaby genome. It has great value as a resource to identify novel genes and for comparative studies, and is vital for the ongoing genome sequence assembly and gene ordering in this species. Results A second-generation anchored tammar wallaby genetic linkage map has been constructed based on a total of 148 loci. The linkage map contains the original 64 loci included in the first-generation map, plus an additional 84 microsatellite loci that were chosen specifically to increase coverage and assist with the anchoring and orientation of linkage groups to chromosomes. These additional loci were derived from (a sequenced BAC clones that had been previously mapped to tammar wallaby chromosomes by fluorescence in situ hybridization (FISH, (b End sequence from BACs subsequently FISH-mapped to tammar wallaby chromosomes, and (c tammar wallaby genes orthologous to opossum genes predicted to fill gaps in the tammar wallaby linkage map as well as three X-linked markers from a published study. Based on these 148 loci, eight linkage groups were formed. These linkage groups were assigned (via FISH-mapped markers to all seven autosomes and the X chromosome. The sex-pooled map size is 1402.4 cM, which is estimated to provide 82.6% total coverage of the genome, with an average interval distance of 10.9 cM between adjacent markers. The overall ratio of female/male map length is 0.84, which is comparable to the ratio of 0.78 obtained for the first-generation map. Conclusions Construction of this second-generation genetic linkage map is a significant step towards complete coverage of the tammar wallaby

  12. A second-generation anchored genetic linkage map of the tammar wallaby (Macropus eugenii).

    Wang, Chenwei; Webley, Lee; Wei, Ke-jun; Wakefield, Matthew J; Patel, Hardip R; Deakin, Janine E; Alsop, Amber; Marshall Graves, Jennifer A; Cooper, Desmond W; Nicholas, Frank W; Zenger, Kyall R

    2011-08-19

    The tammar wallaby, Macropus eugenii, a small kangaroo used for decades for studies of reproduction and metabolism, is the model Australian marsupial for genome sequencing and genetic investigations. The production of a more comprehensive cytogenetically-anchored genetic linkage map will significantly contribute to the deciphering of the tammar wallaby genome. It has great value as a resource to identify novel genes and for comparative studies, and is vital for the ongoing genome sequence assembly and gene ordering in this species. A second-generation anchored tammar wallaby genetic linkage map has been constructed based on a total of 148 loci. The linkage map contains the original 64 loci included in the first-generation map, plus an additional 84 microsatellite loci that were chosen specifically to increase coverage and assist with the anchoring and orientation of linkage groups to chromosomes. These additional loci were derived from (a) sequenced BAC clones that had been previously mapped to tammar wallaby chromosomes by fluorescence in situ hybridization (FISH), (b) End sequence from BACs subsequently FISH-mapped to tammar wallaby chromosomes, and (c) tammar wallaby genes orthologous to opossum genes predicted to fill gaps in the tammar wallaby linkage map as well as three X-linked markers from a published study. Based on these 148 loci, eight linkage groups were formed. These linkage groups were assigned (via FISH-mapped markers) to all seven autosomes and the X chromosome. The sex-pooled map size is 1402.4 cM, which is estimated to provide 82.6% total coverage of the genome, with an average interval distance of 10.9 cM between adjacent markers. The overall ratio of female/male map length is 0.84, which is comparable to the ratio of 0.78 obtained for the first-generation map. Construction of this second-generation genetic linkage map is a significant step towards complete coverage of the tammar wallaby genome and considerably extends that of the first

  13. Efficient sequential and parallel algorithms for record linkage.

    Mamun, Abdullah-Al; Mi, Tian; Aseltine, Robert; Rajasekaran, Sanguthevar

    2014-01-01

    Integrating data from multiple sources is a crucial and challenging problem. Even though there exist numerous algorithms for record linkage or deduplication, they suffer from either large time needs or restrictions on the number of datasets that they can integrate. In this paper we report efficient sequential and parallel algorithms for record linkage which handle any number of datasets and outperform previous algorithms. Our algorithms employ hierarchical clustering algorithms as the basis. A key idea that we use is radix sorting on certain attributes to eliminate identical records before any further processing. Another novel idea is to form a graph that links similar records and find the connected components. Our sequential and parallel algorithms have been tested on a real dataset of 1,083,878 records and synthetic datasets ranging in size from 50,000 to 9,000,000 records. Our sequential algorithm runs at least two times faster, for any dataset, than the previous best-known algorithm, the two-phase algorithm using faster computation of the edit distance (TPA (FCED)). The speedups obtained by our parallel algorithm are almost linear. For example, we get a speedup of 7.5 with 8 cores (residing in a single node), 14.1 with 16 cores (residing in two nodes), and 26.4 with 32 cores (residing in four nodes). We have compared the performance of our sequential algorithm with TPA (FCED) and found that our algorithm outperforms the previous one. The accuracy is the same as that of this previous best-known algorithm.

  14. Synaptic and functional linkages between spinal premotor interneurons and hand-muscle activity during precision grip

    Tomohiko eTakei

    2013-04-01

    Full Text Available Grasping is a highly complex movement that requires the coordination of a number of hand joints and muscles. Previous studies showed that spinal premotor interneurons (PreM-INs in the primate cervical spinal cord have divergent synaptic effects on hand motoneurons and that they might contribute to hand-muscle synergies. However, the extent to which these PreM-IN synaptic connections functionally contribute to modulating hand-muscle activity is not clear. In this paper, we explored the contribution of spinal PreM-INs to hand-muscle activation by quantifying the synaptic linkage (SL and functional linkage (FL of the PreM-INs with hand-muscle activities. The activity of 23 PreM-INs was recorded from the cervical spinal cord (C6–T1, with EMG signals measured simultaneously from hand and arm muscles in two macaque monkeys performing a precision grip task. Spike-triggered averages (STAs of rectified EMGs were compiled for 456 neuron–muscle pairs; 63 pairs showed significant post-spike effects (i.e., SL. Conversely, 231 of 456 pairs showed significant cross-correlations between the IN firing rate and rectified EMG (i.e., FL. Importantly, a greater proportion of the neuron–muscle pairs with SL showed FL (43/63 pairs, 68% compared with the pairs without SL (203/393, 52%, and the presence of SL was significantly associated with that of FL. However, a significant number of pairs had SL without FL (SL∩!FL, n = 20 or FL without SL (!SL∩FL, n = 203, and the proportions of these incongruities exceeded the number expected by chance. These results suggested that spinal PreM-INs function to significantly modulate hand-muscle activity during precision grip, but the contribution of other neural structures is also needed to recruit an adequate combination of hand-muscle motoneurons.

  15. Absence of linkage between MHC and a gene involved in susceptibility to human schistosomiasis

    Chiarella J.M.

    1998-01-01

    Full Text Available Six hundred million people are at risk of infection by Schistosoma mansoni. MHC haplotypes have been reported to segregate with susceptibility to schistosomiasis in murine models. In humans, a major gene related to susceptibility/resistance to infection by S. mansoni (SM1 and displaying the mean fecal egg count as phenotype was detected by segregation analysis. This gene displayed a codominant mode of inheritance with an estimated frequency of 0.20-0.25 for the deleterious allele and accounted for more than 50% of the variance of infection levels. To determine if the SM1 gene segregates with the human MHC chromosomal region, we performed a linkage study by the lod score method. We typed for HLA-A, B, C, DR and DQ antigens in 11 informative families from an endemic area for schistosomiasis in Bahia, Brazil, by the microlymphocytotoxicity technique. HLA-DR typing by the polymerase chain reaction with sequence-specific primers (PCR-SSP and HLA-DQ were confirmed by PCR-sequence-specific oligonucleotide probes (PCR-SSOP. The lod scores for the different q values obtained clearly indicate that there is no physical linkage between HLA and SM1 genes. Thus, susceptibility or resistance to schistosomiasis, as defined by mean fecal egg count, is not primarily dependent on the host's HLA profile. However, if the HLA molecule plays an important role in specific immune responses to S. mansoni, this may involve the development of the different clinical aspects of the disease such as granuloma formation and development of hepatosplenomegaly.

  16. Saturation of an intra-gene pool linkage map: towards a unified consensus linkage map for fine mapping and synteny analysis in common bean.

    Galeano, Carlos H; Fernandez, Andrea C; Franco-Herrera, Natalia; Cichy, Karen A; McClean, Phillip E; Vanderleyden, Jos; Blair, Matthew W

    2011-01-01

    Map-based cloning and fine mapping to find genes of interest and marker assisted selection (MAS) requires good genetic maps with reproducible markers. In this study, we saturated the linkage map of the intra-gene pool population of common bean DOR364 × BAT477 (DB) by evaluating 2,706 molecular markers including SSR, SNP, and gene-based markers. On average the polymorphism rate was 7.7% due to the narrow genetic base between the parents. The DB linkage map consisted of 291 markers with a total map length of 1,788 cM. A consensus map was built using the core mapping populations derived from inter-gene pool crosses: DOR364 × G19833 (DG) and BAT93 × JALO EEP558 (BJ). The consensus map consisted of a total of 1,010 markers mapped, with a total map length of 2,041 cM across 11 linkage groups. On average, each linkage group on the consensus map contained 91 markers of which 83% were single copy markers. Finally, a synteny analysis was carried out using our highly saturated consensus maps compared with the soybean pseudo-chromosome assembly. A total of 772 marker sequences were compared with the soybean genome. A total of 44 syntenic blocks were identified. The linkage group Pv6 presented the most diverse pattern of synteny with seven syntenic blocks, and Pv9 showed the most consistent relations with soybean with just two syntenic blocks. Additionally, a co-linear analysis using common bean transcript map information against soybean coding sequences (CDS) revealed the relationship with 787 soybean genes. The common bean consensus map has allowed us to map a larger number of markers, to obtain a more complete coverage of the common bean genome. Our results, combined with synteny relationships provide tools to increase marker density in selected genomic regions to identify closely linked polymorphic markers for indirect selection, fine mapping or for positional cloning.

  17. Paradigms of Communication in Performance and Dance Studies

    Popa Blanariu, Nicoleta

    2015-01-01

    In her article "Paradigms of Communication in Performance and Dance Studies" Nicoleta Popa Blanariu approaches from an interdisciplinary perspective the measure in which performing arts (theater, music, ballet, Indian classical dance, folk dance, etc.), as well as ritual performance constitute a corpus that may be analysed by means of theoretical and conceptual tools in communication studies and semiotics. Popa Blanariu analyses the relation between signification and communication in performi...

  18. Marketing strategy and product performance: a study of selected ...

    Marketing strategy and product performance: a study of selected firms in Nigeria. ... Ethiopian Journal of Environmental Studies and Management ... This paper therefore recommends that business organisations should accord necessary ...

  19. Mapping of yield, yield stability, yield adaptability and other traits in barley using linkage disequilibrium mapping and linkage analysis

    Kraakman, A.T.W.

    2005-01-01

    Plants is mostly done through linkage analysis. A segregating mapping population Identification and mappping of Quanti