A full pedigree based method for the statistical assessment of genetic anticipation

Genetic anticipation is defined as a decrease in age of onset or increase in severity as the disorder is transmitted through subsequent generations. Anticipation has been noted in the literature for over a century. Recently, anticipation in several diseases including Huntington's Disease, Myotonic Dystrophy and Fragile X Syndrome were shown to be caused by expansion of triplet repeats. Anticipation effects have also been observed in numerous mental disorders (e.g. Schizophrenia, Bipolar Disorder), cancers (Li-Fraumeni Syndrome, Leukemia) and other complex diseases. ^ Several statistical methods have been applied to determine whether anticipation is a true phenomenon in a particular disorder, including standard statistical tests and newly developed affected parent/affected child pair methods. These methods have been shown to be inappropriate for assessing anticipation for a variety of reasons, including familial correlation and low power. Therefore, we have developed family-based likelihood modeling approaches to model the underlying transmission of the disease gene and penetrance function and hence detect anticipation. These methods can be applied in extended families, thus improving the power to detect anticipation compared with existing methods based only upon parents and children. The first method we have proposed is based on the regressive logistic hazard model. This approach models anticipation by a generational covariate. The second method allows alleles to mutate as they are transmitted from parents to offspring and is appropriate for modeling the known triplet repeat diseases in which the disease alleles can become more deleterious as they are transmitted across generations. ^ To evaluate the new methods, we performed extensive simulation studies for data simulated under different conditions to evaluate the effectiveness of the algorithms to detect genetic anticipation. Results from analysis by the first method yielded empirical power greater than 87% based on the 5% type I error critical value identified in each simulation depending on the method of data generation and current age criteria. Analysis by the second method was not possible due to the current formulation of the software. The application of this method to Huntington's Disease and Li-Fraumeni Syndrome data sets revealed evidence for a generation effect in both cases. ^

Houston Rescue and Restore Coalition human trafficking needs assessment

Background. Human trafficking, or "modern day slavery", is a complex public health issue that we must understand more fully before it can be effectively tackled. There have been very few empirical studies on human trafficking and estimates of global and national human trafficking victims vary widely. Free the Slaves, a non-profit organization, estimates that there are at least 27 million people in the world at any given time that can be classified as victims of human trafficking. Houston, Texas has been identified as a place where human trafficking may be more likely to exist due to its close proximity to Mexico and due to economic and population factors. Houston Rescue and Restore Coalition (HRRC) is a local organization that exists to raise awareness of human trafficking in Houston, Texas. To better serve victims of human trafficking, HRRC commissioned a community assessment of the services available to victims of human trafficking in the greater Houston metropolitan area.^ Purpose. The current study assessed the capacity of organizations and agencies within the greater Houston metropolitan area to deal with human trafficking issues; in particular, knowledge regarding human trafficking issues among these organizations and agencies was evaluated.^ Methods. A cross-sectional study design was used to conduct surveys with key informants/stakeholders from organizations and agencies within the greater Houston metropolitan area. The survey instrument included 41 items in three parts, and consisted of multiple choice questions, open-ended essay questions, and closed-ended 5 point Likert questions.^ Results. The findings from this study indicate that efforts must be made to increase comprehensive awareness of the issue of human trafficking, including the federal and state laws that have been enacted to combat this problem. The data also indicate that there are limited services provided to human trafficking victims within the greater Houston metropolitan area.^ Conclusion. The results of the survey will provide Houston Rescue and Restore Coalition with information that will assist them in targeting their efforts to combat human trafficking in Houston, Texas.^

A critical assessment of the National Institutes of Health Consensus Development Program against the eras which shaped it

This research study offers a critical assessment of NIH's Consensus Development Program (CDP), focusing upon its historical and valuative bases and its institutionalization in response to social and political forces. The analysis encompasses systems-level, as well as interpersonal factors in the adoption of consensus as the mechanism for resolving scientific controversies in clinical practice application. Further, the evolution of the CDP is also considered from an ecological perspective as a reasoned adaptation by NIH to pressures from its supporters and clients for translating biomedical research into medical practice. The assessment examines federal science policy and institutional designs for the inclusion of the public interest and democratic deliberation.^ The study relies on three distinct approaches to social research. Conventional historical methods were utilized in the interpretation of social and political influences across eras on the evolution of the National Institutes of Health and its response to demands for accountability and relevance through its Consensus Development Program. An embedded single-case study was utilized for an empirical examination of the CDP mechanism through five exemplar conferences. Lastly, a sociohistorical approach was taken to the CDP in order to consider its responsiveness to the values of the eras which created and shaped it. An exploration of organizational behavior with considerations for institutional reform as a response to continuing political and social pressure, it is a study of organizational birth, growth, and response to demands from its environment. The study has explanatory import in its attempt to account for the creation, timing, and form of the CDP, relative to political, institutional, and cultural pressures, and predictive import thorough its historical view which provides a basis for informed speculation on the playing out of tensions between extramural and intermural scientists and the current demands for health care reform. ^

Q method factor analysis of stakeholder social perspectives of the effectiveness of Environmental Impact Assessment public participation in the Western Cape, South Africa

Public participation is an integral part of Environmental Impact Assessment (EIA), and as such, has been incorporated into regulatory norms. Assessment of the effectiveness of public participation has remained elusive however. This is partly due to the difficulty in identifying appropriate effectiveness criteria. This research uses Q methodology to discover and analyze stakeholder's social perspectives of the effectiveness of EIAs in the Western Cape, South Africa. It considers two case studies (Main Road and Saldanha Bay EIAs) for contextual participant perspectives of the effectiveness based on their experience. It further considers the more general opinion of provincial consent regulator staff at the Department of Environmental Affairs and the Department of Planning (DEA&DP). Two main themes of investigation are drawn from the South African National Environmental Management Act imperative for effectiveness: firstly, the participation procedure, and secondly, the stakeholder capabilities necessary for effective participation. Four theoretical frameworks drawn from planning, politics and EIA theory are adapted to public participation and used to triangulate the analysis and discussion of the revealed social perspectives. They consider citizen power in deliberation, Habermas' preconditions for the Ideal Speech Situation (ISS), a Foucauldian perspective of knowledge, power and politics, and a Capabilities Approach to public participation effectiveness. The empirical evidence from this research shows that the capacity and contextual constraints faced by participants demand the legislative imperatives for effective participation set out in the NEMA. The implementation of effective public participation has been shown to be a complex, dynamic and sometimes nebulous practice. The functional level of participant understanding of the process was found to be significantly wide-ranging with consequences of unequal and dissatisfied stakeholder engagements. Furthermore, the considerable variance of stakeholder capabilities in the South African social context, resulted in inequalities in deliberation. The social perspectives revealed significant differences in participant experience in terms of citizen power in deliberation. The ISS preconditions are highly contested in both the Saldanha EIA case study and the DEA&DP social perspectives. Only one Main Road EIA case study social perspective considered Foucault's notion of governmentality as a reality in EIA public participation. The freedom of control of ones environment, based on a Capabilities approach, is a highly contested notion. Although agreed with in principle, all of the social perspectives indicate that contextual and capacity realities constrain its realisation. This research has shown that Q method can be applied to EIA public participation in South Africa and, with the appropriate research or monitoring applications it could serve as a useful feedback tool to inform best practice public participation.

Assessment of FDI impact on Thailand's production sectors : implications for investment promotion activities

This paper examines the overall and sectoral economic impact of foreign direct investment (FDI) on the Thai economy using the economic data from 2005-2013. In assessing the overall economic impact, it is found that FDI has contributed positively to Thailand's economic growth. However, when analyzing the sectoral details, the empirical results indicate that FDI has a varying impact on the productive sectors in Thailand. Out of the 9 sub-sectors covered by this study, 5 sub-sectors (manufacturing, construction, financial, wholesale, retail trade, and agriculture) show strong statistically-significant positive effects of FDI on the relevant sector's value-added output. Based on these findings, it is suggested that policy-makers, including the Board of Investment, should aim to promote FDI with special consideration of the sectoral impact that would enable Thailand's FDI promotion policies to be more productive and beneficial for the Thai economy.

User benefit assessment by a dynamic LUTI model for Madrid

Assessing users’ benefit in a transport policy implementation has been studied by many researchers using theoretical or empirical measures. However, few of them measure users’ benefit in a different way from the consumer surplus. Therefore, this paper aims to assess a new measure of user benefits by weighting consumer surplus in order to include equity assessment for different transport policies simulated in a dynamic middle-term LUTI model adapted to the case study of Madrid. Three different transport policies, including road pricing, parking charge and public transport improvement have been simulated through the Metropolitan Activity Relocation Simulator, MARS, the LUTI calibrated model for Madrid). A social welfare function (WF) is defined using a cost benefit analysis function that includes mainly costs and benefits of users and operators of the transport system. Particularly, the part of welfare function concerning the users, (i.e. consumer surplus), is modified by a compensating weight (CW) which represents the inverse of household income level. Based on the modified social welfare function, the effects on the measure of users benefits are estimated and compared with the old WF ́s results as well. The result of the analysis shows that road pricing leads a negative effect on the users benefits specially on the low income users. Actually, the road pricing and parking charge implementation results like a regressive policy especially at long term. Public transport improvement scenario brings more positive effects on low income user benefits. The integrated (road pricing and increasing public services) policy scenario is the one which receive the most user benefits. The results of this research could be a key issue to understanding the relationship between transport systems policies and user benefits distribution in a metropolitan context.

Performance assessment of an architecture with adaptative interfaces for people with special needs

People in industrial societies carry more and more portable electronic devices (e.g., smartphone or console) with some kind of wireles connectivity support. Interaction with auto-discovered target devices present in the environment (e.g., the air conditioning of a hotel) is not so easy since devices may provide inaccessible user interfaces (e.g., in a foreign language that the user cannot understand). Scalability for multiple concurrent users and response times are still problems in this domain. In this paper, we assess an interoperable architecture, which enables interaction between people with some kind of special need and their environment. The assessment, based on performance patterns and antipatterns, tries to detect performance issues and also tries to enhance the architecture design for improving system performance. As a result of the assessment, the initial design changed substantially. We refactorized the design according to the Fast Path pattern and The Ramp antipattern. Moreover, resources were correctly allocated. Finally, the required response time was fulfilled in all system scenarios. For a specific scenario, response time was reduced from 60 seconds to less than 6 seconds.

The Use of the Rey 15-Item Test and Recognition Trial to Evaluate Suboptimal Effort in Neuropsychological Assessment with a Pediatric Mild TBI Sample

The utilization of symptom validity tests (SVTs) in pediatric assessment is receiving increasing empirical support. The Rey 15-Item Test (FIT) is an SVT commonly used in adult assessment, with limited research in pediatric populations. Given that FIT classification statistics across studies to date have been quite variable, Boone, Salazar, Lu, Warner-Chacon, and Razani (2002) developed a recognition trial to use with the original measure to enhance accuracy. The current study aims to assess the utility of the FIT and recognition trial in a pediatric mild traumatic brain injury (TBI) sample (N = 112; M = 14.6 years), in which a suboptimal effort base rate of 17% has been previously established (Kirkwood & Kirk, 2010). All participants were administered the FIT as part of an abbreviated neuropsychological evaluation; failure on the Medical Symptom Validity Test (MSVT) was used as the criterion for suspect effort. The traditional adult cut-off score of(99%), but poor sensitivity (6%). When the recognition trial was also utilized, a combination score of(sensitivity = 64%, specificity = 93%). Results indicate that the FIT with recognition trial may be useful in the assessment of pediatric suboptimal effort, at least among relatively high functioning children following mild TBI.

Measuring Assessment Effectiveness: The Development of the Consultative Assessment Questionnaire (C-AQ)

In light of the clinical importance of satisfaction in psychological assessments, the lack of research related to consultative assessment, and the absence of empirical methods to measure the satisfaction of referring professionals in consultative assessments, the Consultative Assessment Questionnaire (C-AQ) was developed. The measure assesses the satisfaction of the referring professional with a consultative assessment. It was created using a rational-empirical approach. Using confirmed perspective content analysis five initial scales were developed. This measure has many important research and clinical applications related to measuring the effectiveness of consultative assessments. The C-AQ will be further refined and validity data will be collected in a second phase of this project.

Willingness Towards Continuous Assessment

Among the factors that affect the convergence towards the European Higher Education Area, university teaching staff's motivation is fundamental, and consequently, it is crucial to empirically know what this motivation depends on. In this context, one of the most relevant changes in the teacher-student relationship is assessment. In fact, the transition from a static assessment -focused on only one temporal point (final exam)- to a dynamic assessment, will require changes in thought and action, both on the part of teachers and students. In this line, the objective of this paper is to analyze the determinants of teaching staff's predisposition to the continuous assessment method. Specifically, we consider the following explanatory dimensions: teaching method used (which measures their degree of involvement with the ongoing adaptation process), type of subject (core, compulsory and optional), and teacher's personal characteristics (professional status and gender). The empirical application carried out at the University of Alicante uses Logit Models with Random Coefficients to capture heterogeneity, and shows that "cooperative learning" is a clear-cut determinant of "continuous assessment" as well as "continuous assessment plus final examination". Also, a conspicuous result, which in turn becomes a thought-provoking finding, is that professional status is highly relevant as a teacher's engagement is closely related to prospects of stability. Consequently, the most relevant implications from the results revolve around the way academic institutions can propose and implement inducement for their teaching staff.

Fostering Teaching Staff's Engagement in Continuous Assessment

Among the factors that affect the convergence towards the European Higher Education Area, university teaching staff's motivation is fundamental, and consequently, it is crucial to empirically know what this motivation depends on. In this context, one of the most relevant changes in the teacher-student relationship is assessment. In fact, the transition from a static assessment -focused on only one temporal point (final exam)- to a dynamic assessment, will require changes in thought and action, both on the part of teachers and students. In this line, the objective of this paper is to analyze the determinants of teaching staff's predisposition to the continuous assessment method. Specifically, we consider the following explanatory dimensions: teaching method used (which measures their degree of involvement with the ongoing adaptation process), type of subject (core, compulsory and optional), and teacher's personal characteristics (professional status and gender). The empirical application carried out at the University of Alicante uses Logit Models with Random Coefficients to capture heterogeneity, and shows that "cooperative learning" is a clear-cut determinant of "continuous assessment" as well as "continuous assessment plus final examination". Also, a conspicuous result, which in turn becomes a thought-provoking finding, is that professional status is highly relevant as a teacher's engagement is closely related to prospects of stability. Consequently, the most relevant implications from the results revolve around the way academic institutions can propose and implement inducement for their teaching staff.

Constructing the Vulvar Pain Assessment Questionnaire Inventory

The goals of this program of research were to examine the link between self-reported vulvar pain and clinical diagnoses, and to create a user-friendly assessment tool to aid in that process. These goals were undertaken through a series of four empirical studies (Chapters 2-6): one archival study, two online studies, and one study conducted in a Women’s Health clinic. In Chapter 2, the link between self-report and clinical diagnosis was confirmed by extracting data from multiple studies conducted in the Sexual Health Research Laboratory over the course of several years. We demonstrated the accuracy of diagnosis based on multiple factors, and explored the varied gynecological presentation of different diagnostic groups. Chapter 3 was based on an online study designed to create the Vulvar Pain Assessment Questionnaire (VPAQ) inventory. Following the construct validation approach, a large pool of potential items was created to capture a broad selection of vulvar pain symptoms. Nearly 300 participants completed the entire item pool, and a series of factor analyses were utilized to narrow down the items and create scales/subscales. Relationships were computed among subscales and validated scales to establish convergent and discriminant validity. Chapters 4 and 5 were conducted in the Department of Obstetrics & Gynecology at Oregon Health & Science University. The brief screening version of the VPAQ was employed with patients of the Program in Vulvar Health at the Center for Women’s Health. The accuracy and usefulness of the VPAQscreen was determined from the perspective of patients as well as their health care providers, and the treatment-seeking experiences of patients was explored. Finally, a second online study was conducted to confirm the factor structure, internal consistency, and test-retest reliability of the VPAQ inventory. The results presented in these chapters confirm the link between targeted questions and accurate diagnoses, and provide a guideline that is useful and accessible for providers and patients.

The Economics of State Aid for the Rescue and Restructuring of Firms in Difficulty: Theoretical Considerations, Empirical Analysis and Proposals for Reform. Bruges European Economic Research (BEER) Papers 27/September 2013

State aid for rescue and restructuring (R&R) of companies in difficulty causes a significant distortion of competition. It prevents the market from eliminating inefficient companies. Because of this, the European Commission has to be specially strict when it assesses rescue or restructuring aid. This paper examines recent cases of corporate restructuring partly funded with public money. It explains the main aspects of the current guidelines which are applicable to R&R State Aid and establishes a theoretical framework for the economic assessment of R&R aid. It then analyses decisions adopted by the European Commission concerning R&R state aid during the period 2000-2013. It finds that there is little economic rationale in the granting of R&R aid. The paper concludes by applying the lessons drawn from the empirical analysis to the anticipated revision of the R&R guidelines in the context of the State Aid Modernisation process.

Sustainability, Resource Efficiency and Competitiveness. An Assessment of Resource Efficiency Policies in the European Union. Bruges European Economic Research Papers (BEER) 32/2015.

Addressing high and volatile natural resource prices, uncertain supply prospects, reindustrialization attempts and environmental damages related to resource use, resource efficiency has evolved into a highly debated proposal among academia, policy makers, firms and international financial institutions (IFIs). In 2011, the European Union (EU) declared resource efficiency as one of its seven flagship initiatives in its Europe 2020 strategy. This paper contributes to the discussions by assessing its key initiative, the Roadmap to a Resource Efficient Europe (EC 2011 571), following two streams of evaluation. In a first step, resource efficiency is linked to two theoretical frameworks regarding sustainability, (i) the sustainability triangle (consisting of economic, social and ecological dimensions) and (ii) balanced sustainability (combining weak and strong sustainability). Subsequently, both sustainability frameworks are used to assess to which degree the Roadmap follows the concept of sustainability. It can be concluded that it partially respects the sustainability triangle as well as balanced sustainability, primarily lacking a social dimension. In a second step, following Steger and Bleischwitz (2009), the impact of resource efficiency on competitiveness as advocated in the Roadmap is empirically evaluated. Using an Arellano–Bond dynamic panel data model reveals no robust impact of resource efficiency on competiveness in the EU between 2004 and 2009 – a puzzling result. Further empirical research and enhanced data availability are needed to better understand the impacts of resource efficiency on competitiveness on the macroeconomic, microeconomic and industry level. In that regard, strengthening the methodologies of resource indicators seem essential. Last but certainly not least, political will is required to achieve the transition of the EU-economy into a resource efficient future.

A Knowledge-based System for Intelligent Support in Pharmacogenomics Evidence Assessment: Ontology-driven Evidence Representation, Retrieval, Classification and Interpretation

Thesis (Ph.D.)--University of Washington, 2016-06