Nonparametric Evaluation of Quantitative Traits in Population-Based Association Studies when the Genetic Model is Unknown

Statistical association between a single nucleotide polymorphism (SNP) genotype and a quantitative trait in genome-wide association studies is usually assessed using a linear regression model, or, in the case of non-normally distributed trait values, using the Kruskal-Wallis test. While linear regression models assume an additive mode of inheritance via equi-distant genotype scores, Kruskal-Wallis test merely tests global differences in trait values associated with the three genotype groups. Both approaches thus exhibit suboptimal power when the underlying inheritance mode is dominant or recessive. Furthermore, these tests do not perform well in the common situations when only a few trait values are available in a rare genotype category (disbalance), or when the values associated with the three genotype categories exhibit unequal variance (variance heterogeneity). We propose a maximum test based on Marcus-type multiple contrast test for relative effect sizes. This test allows model-specific testing of either dominant, additive or recessive mode of inheritance, and it is robust against variance heterogeneity. We show how to obtain mode-specific simultaneous confidence intervals for the relative effect sizes to aid in interpreting the biological relevance of the results. Further, we discuss the use of a related all-pairwise comparisons contrast test with range preserving confidence intervals as an alternative to Kruskal-Wallis heterogeneity test. We applied the proposed maximum test to the Bogalusa Heart Study dataset, and gained a remarkable increase in the power to detect association, particularly for rare genotypes. Our simulation study also demonstrated that the proposed non-parametric tests control family-wise error rate in the presence of non-normality and variance heterogeneity contrary to the standard parametric approaches. We provide a publicly available R library nparcomp that can be used to estimate simultaneous confidence intervals or compatible multiplicity-adjusted p-values associated with the proposed maximum test.

Avaliação do potencial cancerigénico de microcistinas (cianotoxinas)

Tese de doutoramento em Farmácia (Toxicologia), apresentada à Faculdade de Farmácia da Universidade de Lisboa, 2009.

Realidade aumentada aplicada em bibliotecas: multiplicidade no acesso a informação

Conceitua Realidade Aumentada do ponto de vista histórico de vários autores e como surgiu esse segmento através da evolução tecnológica até os dias atuais. Aborda seu funcionamento, como também, seus sistemas e aplicações em diversos campos de pesquisas e estudos científicos. Diferencia Realidade Aumentada de Realidade Virtual, visando melhor esclarecimento entre ambas na intenção de descaracterizá-las com uma única “realidade”. Apresenta a Realidade Aumentada e sua aplicação dentro de um contexto de uma unidade de informação, promovendo uma melhor interação com os usuários e as adaptações pelas quais as bibliotecas terão que passar futuramente para se adequarem a “explosão” tecnológica. Descreve o funcionamento da biblioteca ARToolKIT, baseada em RA e suas principais etapas de funcionamento para visualização de objetos virtuais em 3D. Exemplifica os benefícios que uma unidade de informação, que utiliza Realidade Aumentada, promove aos usuários portadores de deficiência, além de sua inclusão no meio digital e sua inserção no mercado de trabalho

Reading Pitscottie's Cronicles: a case study on the history of literacy in Scotland, 1575-1814

This thesis addresses a range of research questions regarding literacy in early modern Scotland. Using the early modern manuscripts and printed editions of Robert Lindsay of Pitscottie’s late sixteenth-century 'Cronicles of Scotland' as a case study on literacy history, this thesis poses the complementary questions of how and why early modern Scottish reading communities were encountering Pitscottie’s 'Cronicles', and how features of the material page can be interpreted as indicators of contemporary literacy practices. The answers to these questions then provide the basis for the thesis to ask broader socio-cultural and theoretical questions regarding the overall literacy environment in Scotland between 1575 and 1814, and how theorists conceptualise the history of literacy. Positioned within the theoretical groundings of historical pragmatics and ‘new philology’ – and the related approach of pragmaphilology – this thesis returns to the earlier philological practice of close textual analysis, and engages with the theoretical concept of mouvance, in order to analyse how the changing ‘form’ of Pitscottie’s 'Cronicles', as it was reproduced in manuscript and print throughout the early modern period, indicates its changing ‘function’. More specifically, it suggests that the punctuation practices and paratextual features of individual witnesses of the text function to aid the highly-nuanced reading practices and purposes of the discrete reading communities for which they were produced. This thesis includes extensive descriptive material which presents previously unrecorded data regarding twenty manuscripts and printed witnesses of Pitscottie’s 'Cronicles', contributing to a gap in Scotland’s literary/historiographical canon. It then analyses this material using a transferable methodological framework which combines the quantitative analysis of micro-data with qualitative analysis of this data within its socio-cultural context, in order to conduct diachronic comparative analysis of copy-specific information. The principal findings of this thesis suggest that Pitscottie’s 'Cronicles' were being read for a combination of devotional and didactic purposes, and that multiple reading communities, employing highly nuanced reading practices, were encountering the text near-contemporaneously. This thesis further suggests that early modern literacy practices, and the specific reading communities which employ them, should be described as existing within a spectrum of available practices (i.e. more or less oral/aural or silent, and intensive or extensive in practice) rather than as dichotomous entities. As such, this thesis argues for the rejection of evolutionary theories of the history of literacy, suggesting that rather than being described antithetically, historical reading practices and purposes must be recognised as complex, coexisting socio-cultural practices, and the multiplicity of reading communities within a single society must be acknowledged and analysed as such, as opposed to being interpreted as universal entities.

A longitudinal interpretive phenomenological investigation into latent entrepreneurial learning processes: Key implications for entrepreneurial education.

The effectiveness and value of entrepreneurship education is much debated within academic literature. The individual’s experience is advocated as being key to shaping entrepreneurial education and design through a multiplicity of theoretical concepts. Latent, pre-nascent and nascent entrepreneurship (doing) studies within the accepted literature provide an exceptional richness in diversity of thought however, there is a paucity of research into latent entrepreneurship education. In addition, Tolman’s early work shows the existence of cases whereby a novel problem is solved without trial and error, and sees such previous learning situations and circumstances as “examples of latent learning and reasoning”, (Deutsch, 1956, pg115). Latent learning has historically been the cause of much academic debate however, Coon’s (2004, pg260) work refers to “latent (hidden) learning … (as being) … without obvious reinforcement and remains hidden until reinforcement is provided” and thus, forms the working definition for the purpose of this study.

Nonlinear periodic problems with a jumping reaction

We consider a periodic problem driven by the scalar $p-$Laplacian and with a jumping (asymmetric) reaction. We prove two multiplicity theorems. The first concerns the nonlinear problem ($1

Distribuição de conteúdos em redes veiculares usando mecanismos de comunicação tolerantes ao atraso

The last couple of decades have been the stage for the introduction of new telecommunication networks. It is expected that in the future all types of vehicles, such as cars, buses and trucks have the ability to intercommunicate and form a vehicular network. Vehicular networks display particularities when compared to other networks due to their continuous node mobility and their wide geographical dispersion, leading to a permanent network fragmentation. Therefore, the main challenges that this type of network entails relate to the intermittent connectivity and the long and variable delay in information delivery. To address the problems related to the intermittent connectivity, a new concept was introduced – Delay Tolerant Network (DTN). This architecture is built on a Store-Carry-and-Forward (SCF) mechanism in order to assure the delivery of information when there is no end-to-end path defined. Vehicular networks support a multiplicity of services, including the transportation of non-urgent information. Therefore, it is possible to conclude that the use of a DTN for the dissemination of non-urgent information is able to surpass the aforementioned challenges. The work developed focused on the use of DTNs for the dissemination of non-urgent information. This information is originated in the network service provider and should be available on mobile network terminals during a limited period of time. In order to do so, four different strategies were deployed: Random, Least Number of Hops First (LNHF), Local Rarest Bundle First (LRBF) e Local Rarest Generation First (LRGF). All of these strategies have a common goal: to disseminate content into the network in the shortest period of time and minimizing network congestion. This work also contemplates the analysis and implementation of techniques that reduce network congestion. The design, implementation and validation of the proposed strategies was divided into three stages. The first stage focused on creating a Matlab emulator for the fast implementation and strategy validation. This stage resulted in the four strategies that were afterwards implemented in the DTNs software Helix – developed in a partnership between Instituto de Telecomunicac¸˜oes (IT) and Veniam R , which are responsible for the largest operating vehicular network worldwide that is located in Oporto city. The strategies were later evaluated on an emulator that was built for the largescale testing of DTN. Both emulators account for vehicular mobility based on information previously collected from the real platform. Finally, the strategy that presented the best overall performance was tested on a real platform – in a lab environment – for concept and operability demonstration. It is possible to conclude that two of the implemented strategies (LRBF and LRGF) can be deployed in the real network and guarantee a significant delivery rate. The LRBF strategy has the best performance in terms of delivery. However, it needs to add a significant overhead to the network in order to work. In the future, tests of scalability should be conducted in a real environment in order to confirm the emulator results. The real implementation of the strategies should be accompanied by the introduction of new types of services for content distribution.

Ação pública na formação e transformação do destino turístico de Porto de Galinhas: um estudo dos referenciais no período de 1970 a 2010

The central interest of this thesis is to comprehend how the public action impels the formation and transformation of the tourist destinies. The research was based on the premise that the public actions are the result of the mediation process of state and non-state actors considered important in a section, which interact aiming for prevailing their interests and world visions above the others. The case of Porto de Galinhas beach, in Pernambuco, locus of the investigation of this thesis, allowed the analysis of a multiplicity of actors on the formation and implementation of local actions toward the development of the tourism between the years 1970 and 2010, as well as permitted the comprehension of the construction of the referential on the interventions made. This thesis, of a qualitative nature, has as theoretical support the cognitive approach of analysis of the public policies developed in France, and it has as main exponents the authors Bruno Jobert and Pierre Muller. This choice was made by the emphasis on the cognitive and normative factors of the politics, which aspects are not very explored in the studies of public policies in Brazil. As the source of the data collection, documental, bibliographic and field researches were utilized to the (re)constitution of the formation and transformation in the site concerned. The analysis techniques applied were the content and the documental analysis. To trace the public action referential, it started by the characterization of the touristic section frontiers and the creation of images by the main international body: the World Tourism Organization, of which analysis of the minutes of the meetings underscored guidelines to the member countries, including Brazil, which compounds the global-sectorial reference of the section. As from the analysis of the evolution of the tourism in the country, was identified that public policies in Brazil passed by transformations in their organization over the years, indicating changes in the referential that guided the interventions. These guidelines and transformations were identified in the construction of the tourist destination of Porto de Galinhas, of which data was systematized and presented in four historical periods, in which were discussed the values, the standard, the algorithms, the images and the important mediators. It has been revealed that the State worked in different roles in the decades analyzed in local tourism. From the 1990s, however, new actors were inserted in the formulation and implementation of policies developed, especially for local hotelkeepers. These, through their association, establishes a leadership relation in the local touristic section, thereby, they could set their hegemony and spread their own interest. The leadership acquired by a group of actors, in the case of Porto de Galinhas, does not mean that trade within the industry were neutralized, but that there is a cognitive framework that confronts the actors involved. In spite of the advances achieved by the work of the mediators in the last decades, that resulted in an amplification and diversification of the activity in the area, as well as the consolidation at the beach, as a tourist destiny of national standout, the position of the place is instable, concerned to the competitiveness, once that there is an situation of social and environmental unsustainability

Metodología de análisis forense orientada a incidentes en dispositivos móviles

En el presente artículo se tratan temas relacionados con el análisis forense aplicado a dispositivos móviles, así como la propuesta y prueba de una metodología que apoye efectivamente estas actividades. Se describen los objetivos a seguir en dicho estudio, y se plantea la búsqueda de evidencia almacenada en los dispositivos móviles bajo un escenario en el que se ha cometido un delito. Se hace énfasis en la evolución y multiplicidad de usos que poseen actualmente los dispositivos; y finalmente se aborda la necesidad de tener estándares que permitan garantizar la integridad de las evidencias encontradas, para ello se describe la metodología desarrollada, la cual permite realizar de manera adecuada el proceso forense sobre dispositivos móviles, por lo que se aspira a que se constituya en un estándar para realizar este tipo de investigaciones.

L'image principale de profil, symbole de l'individu connecté

Depuis le début du XXIe siècle, un type particulier d’images a envahi l’espace public constitué par Internet : il s’agit des images principales de profil, ces images que les utilisateurs de sites de réseaux sociaux choisissent pour les représenter auprès des autres individus connectés. Comme le plus souvent il s’agit d’une image du corps de celui ou celle qui s’affiche ainsi, il est intéressant de s’intéresser à cette pratique en la rattachant à des pratiques plus anciennes. Dans un premier temps, cette étude présente donc une perspective socio-historique en notant la ressemblance de la pratique de l’image principale de profil avec celle de l’autoportrait et du portrait commandé. Cela permet de remarquer plusieurs points de rupture ou d’inflexion dans l’usage de ce type d’images, mais aussi d’en dégager les usages sociaux typiques. Ensuite, l’observation d’un lieu particulier d’Internet permet de tirer les conclusions suivantes : si l’usage principal de ces images est facile à expliquer, elles servent à symboliser une présence dans des lieux non accessibles aux corps sensibles, ces images montrent toujours des éléments qui permettent de déduire une position sociale et elles sont fondamentalement identiques aux images produites avant Internet. Ensuite, l’étude de ces images montre qu’il y a un véritable continuum dans la manière de dévoiler son intimité qui permet d’affirmer que la frontière entre public et privé n’existe pas sur Internet. Finalement, ces images montrent une absence de canon quant à leur production et une multiplicité des façons de se mettre en scène qui laissent à penser qu’elles sont devenues des symboles à part entière dans la communication qui peut s’établir entre des étrangers sur Internet.

Population genomics diversity of Plasmodium falciparum in malaria patients attending Okelele Health Centre, Okelele, Ilorin, Kwara State, Nigeria.

Background: Plasmodium falciparum, the most dangerous malaria parasite species to humans remains an important public health concern in Okelele, a rural community in Ilorin, Kwara State, Nigeria. There is however little information about the genetic diversity of Plasmodium falciparum in Nigeria. Objective: To determine the population genomic diversity of Plasmodium falciparum in malaria patients attending Okelele Community Healthcare Centre, Okelele, Ilorin, Kwara State. Methods: In this study, 50 Plasmodium falciparum strains Merozoite Surface Protein 1, Merozoite Surface Protein 2 and Glutamate Rich Protein were analysed from Okelele Health Centre, Okelele, Ilorin, Nigeria. Genetic diversity of P. falciparum isolates were analysed from nested polymerase chain reactions (PCR) of the MSP-1 (K1, MAD 20 and RO33), MSP-2 (FC27 and 3D7) and Glutamate Rich Protein allelic families respectively. Results: Polyclonal infections were more in majority of the patients for MSP-1 allelic families while monoclonal infections were more for MSP-2 allelic families. Multiplicity of infection for MSP-1, MSP-2 and GLURP were 1.7, 1.8 and 2.05 respectively Conclusion: There is high genetic diversity in MSP – 2 and GLURP allelic families of Plasmodium falciparum isolates from Okelele Health Centre, Ilorin, Nigeria.

On the brink of madness: Leituras do tema da loucura na obra pré-heteronímica de Fernando Pessoa

O tema da loucura na obra pessoana tem sido objecto de várias aproximações interpretativas, decorrentes da multiplicidade de textos que fazem eco do fenómeno e da sua persistência enquanto topos ao longo de praticamente toda a sua produção. Na sua acepção literal, manteve constantes interferências com a dimensão empírica do autor sobretudo quando sustentadas na contingência de certos textos basilares, os quais têm vindo a ser questionados quanto ao seu valor estritamente testemunhal. Como fenómeno desde cedo relacionado com a criação artística, a loucura surge neste estudo não apenas na representatividade da condição distintiva do sujeito criador mas ainda como figuração da contingência que envolve qualquer acto criativo que tome a linguagem na sua dimensão essencialmente metafórica e ambígua. Neste sentido, o presente trabalho pretende a abertura de várias vias de leitura do fenómeno através da análise crítica dos vocabulários relativos a diferentes âmbitos e concepções de loucura e a sua relação com o génio (capítulos I e II), focando o seu interesse no que diz respeito a alguma produção pessoana pré-heteronímica, nomeadamente Charles Robert Anon, Alexander Search (capítulo III) e Jean Seul de Méluret (capítulo IV), a que acrescentaremos o Primeiro Fausto (capítulo IV), de modo a conseguirmos estabelecer uma possível relação entre as primeiras experiências de alterização e a descoberta simultânea da irredutibilidade do discurso literário face a tentativas de literalização e de racionalização da linguagem, defendidas por outros modelos (paradigma biologista). A identificação da ambiguidade e da ironia nas suas mais variadas acepções como componentes essenciais da aprendizagem do valor contingente do processo de criação contribuirá tanto para a definição da autonomização da literatura como para a redescrição moderna do sujeito criador, paradoxalmente investido do pathos criativo anunciado no Romantismo e confrontando-se com os seus limites, que corresponderão aos da própria linguagem, situação de crise de que a figuração do louco lúcido será um dos tópicos mais produtivos. ABSTRACT: The theme of madness in the Pessoa work has been the subject of several interpretive approaches, from the multiplicity of texts that echo the phenomenon and its persistence as a topos priority over virtually all its production. ln its physiological sense, remained constant interference with the empirical dimension of the author when sustained in the contingency of certain basic texts that have been questioned as to their strictly testimonial value. As early phenomenon associated with artistic creation, the madness in this study is not only representative in the distinctive condition of the subject creator but also as the contingency figuration involving any creative act to take the language mainly in its essential metaphorical and ambiguous dimension. Accordingly, this work intends to open several analysis manners of the phenomenon through critical analysis of vocabularies for different areas and concepts of madness and its special relationship with the genius (Chapters I and II), focusing its interest in respect to some of the previous-heteronomy Pessoa production, including Charles Robert Anon, Alexander Search (Chapter III) and Jean Seul de Méluret (Chapter IV), and the Primeiro Fausto (Chapter IV), among others, to establish a possible relationship between changing early experiences and the discovery simultaneous literary discourse of irreducibility in the face of the attempts of literacy and the rationalization of language defended by other models (biologist paradigm). The identification of the ambiguity and irony in its many different meanings as essential components of learning the contingent value of the creation process which will contribute to the definition of empowerment in the literature as to the redescription of the modem subject creator that paradoxically had the creative pathos announced in Romanticism and from the confrontation with its limits, which will correspond to the language itself, the crisis situation from which the mad-lucid figuration will be one of the most productive topics.

Multiple solutions and numerical analysis to the dynamic and stationary models coupling a delayed energy balance model involving latent heat and discontinuous albedo with a deep ocean

We study a climatologically important interaction of two of the main components of the geophysical system by adding an energy balance model for the averaged atmospheric temperature as dynamic boundary condition to a diagnostic ocean model having an additional spatial dimension. In this work, we give deeper insight than previous papers in the literature, mainly with respect to the 1990 pioneering model by Watts and Morantine. We are taking into consideration the latent heat for the two phase ocean as well as a possible delayed term. Non-uniqueness for the initial boundary value problem, uniqueness under a non-degeneracy condition and the existence of multiple stationary solutions are proved here. These multiplicity results suggest that an S-shaped bifurcation diagram should be expected to occur in this class of models generalizing previous energy balance models. The numerical method applied to the model is based on a finite volume scheme with nonlinear weighted essentially non-oscillatory reconstruction and Runge–Kutta total variation diminishing for time integration.

Maxmin with multiple tastes and beliefs

Tese (doutorado)—Universidade de Brasília, Departamento de Economia, Brasília, 2016.

Dramaturgias en el teatro actual de las Antillas. Cartografía de poéticas en movimiento: Teresa Hernández y Josefina Báez

This dissertation aims to explore the contemporary Caribbean and its dramaturgy through the study of the artistic work of two remarkable artists: the Puerto Rican Teresa Hernández and the Dominicanyork Josefina Báez. Both artists are currently generating a lot of attention due to the internationalization of their creations, but still their work deserves even more consideration. These skilled stage artists connect various islands through their artistic work: Puerto Rico, the Dominican Republic, and the islands within New York City. The different cultures that converge and coexist in these places exemplify the process of hybridization that characterizes our modern world. Teresa and Josefina illustrate in their plays the plurality of the Caribbean, depicting a true multiplicity of languages and cultures that makes it impossible to adopt a fixed and unique conception of a national identity. They engage in the difficult task of finding out what it means to be a Puerto Rican, a Dominican or a New Yorker. Both performers clearly criticize the notion of an identity that pretends to fuse and include all the possible voices of every Caribbean nation under a sole definition. Therefore, one must consider the heterogeneity that surrounds us as the basis to approach the work of these two artists when evaluating the Caribbean, as well as the dramaturgical procedures these great performers employ. To begin with, how can we talk about the Caribbean? How can we talk accurately about dramaturgical procedures? Furthermore, how can we express with words the ephemeral aspect of the theatrical event? How can we use words to address a Caribbean reality, which contains European and American standards, but does not necessarily follow them? These are the questions that the present investigation seeks to answer; however, it is not an easy task. Thus, the real challenge of this dissertation is to offer a rigorous response to these questions...