Le diagnostic des rétinopathies pigmentaires pose différents problèmes, au niveau clinique comme au niveau moléculaire. En premier lieu, il s'agit de maladies rares, la faible prévalence de chaque pathologie à l'échelle de la population mondiale rend difficile leur étude. En second lieu, la caractérisation phénotypique de ces maladies est délicate car les symptômes qui en découlent s'avèrent très similaires. De manière liée, l'œil et le processus de la vision s'avèrent complexes et impliquent les produits d'expression de nombreux gènes. Ainsi, bien que les rétinopathies soient majoritairement monogénique et respectent le modèle d'hérédité mendélienne, les causes génétiques des maladies sont variées. Sur la base de ce double constat, nous proposons deux approches méthodologiques complémentaires menant à une meilleure compréhension de ce groupe de pathologies. Une première approche a pour finalité l'acquisition du jeu exhaustif des gènes impliqués. Les travaux portent sur l'exploitation des puces de génotypage. Nous effectuons une étude de liaison génétique entre les variations ponctuelles et les pathologies. Une seconde approche porte sur la représentation des connaissances associées aux phénotypes cliniques. Un composant ontologique est construit afin d'expliciter les savoirs nécessaires au diagnostic. Les données collectées sur le long terme par les experts sont étiquetées au travers de termes organisés au sein d'un thésaurus dédié. Les profils cliniques des patients et des maladies sont manipulés sous forme de collections de caractéristiques et comparés au moyen d'une mesure de similarité adaptée. L'objectif est alors de proposer un système d'aide au diagnostic. / Diagnosis of retinitis pigmentosa could be difficult regarding both to clinics or molecular issues. Firstly, there are rare diseases, so the prevalence of each pathology in the world population is very low. Secondly, the symptoms of diseases are very similar, so their phenotypic characterization is hard. Moreover, the eye and the visual process are complex and numerous genes' products are implicated. Although retinopathies are mainly monogenic and mendelian inherited diseases, the polymorphisms involved in these diseases are very diverse.These both observations lead us to develop two complementary methodological approaches in a view to better understand the retinopathies.The first approach aims to identify all the genes involved in the diseases using genotyping chips. For this purpose, we studied genetic linkage between single nucleotide variations and pathologies. The second approach leads to the representation of clinical knowledge. An ontological compound was built to make explicit the knowledge involved in the process of diagnosis. The data previously collected by experts were labeled by terms that were organized in a specific thesaurus. The clinic profiles of the patients and diseases were handled as features collections and were compared by similarity calculations. The goal of this work is to build a knowledge-based system for diagnosis.

Notre but est de permettre à un utilisateur du Web d’organiser la gestionde ses données distribuées en place, c’est à dire sans l’obliger à centraliserses données chez un unique hôte. Par conséquent, notre système diffèrede Facebook et des autres systèmes centralisés, et propose une alternativepermettant aux utilisateurs de lancer leurs propres pairs sur leurs machinesgérant localement leurs données personnelles et collaborant éventuellementavec des services Web externes.Dans ma thèse, je présente Webdamlog, un langage dérivé de datalogpour la gestion de données et de connaissances distribuées. Le langage étenddatalog de plusieurs manières, principalement avec une nouvelle propriété ladélégation, autorisant les pairs à échanger non seulement des faits (les données)mais aussi des règles (la connaissance). J’ai ensuite mené une étude utilisateurpour démontrer l’utilisation du langage. Enfin je décris le moteur d’évaluationde Webdamlog qui étend un moteur d’évaluation de datalog distribué nomméBud, en ajoutant le support de la délégation et d’autres innovations tellesque la possibilité d’avoir des variables pour les noms de pairs et des relations.J’aborde de nouvelles techniques d’optimisation, notamment basées sur laprovenance des faits et des règles. Je présente des expérimentations quidémontrent que le coût du support des nouvelles propriétés de Webdamlogreste raisonnable même pour de gros volumes de données. Finalement, jeprésente l’implémentation d’un pair Webdamlog qui fournit l’environnementpour le moteur. En particulier, certains adaptateurs permettant aux pairsWebdamlog d’échanger des données avec d’autres pairs sur Internet. Pourillustrer l’utilisation de ces pairs, j’ai implémenté une application de partagede photos dans un réseau social en Webdamlog. / Our goal is to enable aWeb user to easily specify distributed data managementtasks in place, i.e. without centralizing the data to a single provider. Oursystem is therefore not a replacement for Facebook, or any centralized system,but an alternative that allows users to launch their own peers on their machinesprocessing their own local personal data, and possibly collaborating with Webservices.We introduce Webdamlog, a datalog-style language for managing distributeddata and knowledge. The language extends datalog in a numberof ways, notably with a novel feature, namely delegation, allowing peersto exchange not only facts but also rules. We present a user study thatdemonstrates the usability of the language. We describe a Webdamlog enginethat extends a distributed datalog engine, namely Bud, with the supportof delegation and of a number of other novelties of Webdamlog such as thepossibility to have variables denoting peers or relations. We mention noveloptimization techniques, notably one based on the provenance of facts andrules. We exhibit experiments that demonstrate that the rich features ofWebdamlog can be supported at reasonable cost and that the engine scales tolarge volumes of data. Finally, we discuss the implementation of a Webdamlogpeer system that provides an environment for the engine. In particular, a peersupports wrappers to exchange Webdamlog data with non-Webdamlog peers.We illustrate these peers by presenting a picture management applicationthat we used for demonstration purposes.

Made available in DSpace on 2016-03-22T17:26:43Z (GMT). No. of bitstreams: 1 luc mertins.pdf: 2775714 bytes, checksum: 47026d2266864071d5f4551ef153a2fb (MD5) Previous issue date: 2011-03-25 / This paper presents a model for the extension of the real world through 3D Virtual Worlds system that ensures semantic integration and the ability to infer new information, using a common platform aggregating the Knowledge Base, reasoners for operate it open standards and interfaces for connections to the most diverse systems. It's motivation stems from the increasing use of 3D Virtual Worlds systems, 3D games that mix with the approach of social networks, and the lack of these systems in relation to the ability to semantically understand what happens to their avatars and users. This lack of semantics goes against the intended for the Internet evolution and considered beneficial by this author. This motivated this work to understand these technologies and build a prototype that adds to the 3D virtual world the ability to notify its users with information that is not manually provided to the Knowledge Base, but inferred from it, using data from the most elementary level / Este trabalho apresenta um modelo para a extensão do Mundo Real através de sistemas de Mundos Virtuais 3D que garante a integração semântica e a capacidade de inferir novas informações, utilizando-se de uma plataforma comum que agrega a Base de Conhecimento, raciocinadores capacitados a operá-la e interfaces de padrões abertos para conexões com os mais diversos sistemas. Sua motivação origina-se no uso crescente dos sistemas de Mundos Virtuais 3D, que mesclam jogos 3D com a abordagem das redes sociais, e na carência destes sistemas em relação à capacidade de compreender semanticamente o que ocorre com seus avatares e usuários. Esta ausência de capacidade semântica vai na contramão da evolução pretendida para a Internet e considerada benéfica por este autor, o quê motivou este trabalho a compreender estas tecnologias e construir um protótipo que agrega ao Mundo Virtual 3D a capacidade de notificar seus usuários com informações que não foram manualmente fornecidas a Base de Conhecimento, mas inferidas da mesma, através de dados de nível mais elementar

Esta tese apresenta um modelo de representação de conhecimento fundamentado em arquétipos para o mapeamento da base de conhecimento que separa a informação e o conhecimento. De um lado, a informação representada por uma estrutura de dados comum com o mínimo de semânticas e, do outro, o conhecimento especificado por arquétipos que representam os conceitos formais hierarquizados em matrizes. Os arquétipos permitem a integração de dados existentes e de sistemas não estruturados do ponto de vista da base de conhecimento. A pesquisa da tese objetivou a apresentação do modelo para o Mapeamento da Base de Conhecimento Fundamentado em Arquétipos, extraído de literatura formal e experiência na área de aplicabilidade, e a verificação de sua aderência em ambientes reais com a proposição do modelo através de um protótipo. Em se tratando de campo de aplicabilidade, o modelo concebido pode fazer frente aos problemas da área de informática em saúde, principalmente visualizando contribuições na construção de artefatos computacionais como as aplicações de Telessaúde. Assim, o modelo traz benefícios para a combinação do conhecimento técnico computacional dos profissionais de informática em saúde, com o conhecimento disciplinar em saúde, esse último consolidado na mente dos profissionais da área, ou mesmo de maneira explícita, em vários formatos: documentado em manuscritos, rotinas, processos, livros, e até mesmo em vídeos, voz, imagens médicas, resultados gráficos e numéricos de exames, entre outros. Desse modo, o modelo auxiliará no mapeamento do conhecimento disciplinar, como é a gestão do Registro Eletrônico de Saúde com suas operações de criação, identificação, coleta, armazenamento e acesso, de maneira mais natural aos profissionais de saúde. A estratégia de usabilidade considerada visa a que a gestão proceda de maneira mais natural, ou seja, sem necessidade de qualificação técnica especializada em sistema de informação. Além disso, o modelo permitiu a proposição de um método de conversão de Mapeamento da Base de Conhecimento, particularmente a partir de mapas mentais, para Arquétipos. / The thesis presents a model of knowledge representation based on archetypes for mapping the knowledge base which identifies information and knowledge. On the one hand, the information is represented by a common data structure with minimal semantic, and on the other hand, the knowledge is described by archetypes that represent concepts in formal hierarchical matrices. Archetypes are able to integrate existing data and unstructured systems from the knowledge base standpoint. The thesis research was aimed at presenting the model for mapping the knowledge base focused on archetypes, derived from formal literature and from expertise in the applicability area, and the verification of its adherence to real environments with the model proposition by means of a prototype. In terms of field applicability, the designed model can tackle the problems in the Health Informatics area, particularly visualizing contributions in building computational devices and Telehealth applications. Then, the model allows for the combination of computer professionals technical knowledge in health informatics with disciplinary knowledge in health, the latter consolidated in the health professionals minds, and even explicitly, in various formats: documented in manuscripts, routines, processes, books, and even videos, voice, medical images, graphics and tests numerical results, among others. Thus, the model will help in disciplinary knowledge mapping, according to the Electronic Health Record management operations, namely, creation, identification, collection, storage, and access in a way that is natural for the health professionals. The usability strategy considered in this thesis proposes that the management process acts in a more natural way, without the need for specialized technical skills in information system. In addition, the model allowed the conversion method of mapping knowledge base, particularly from mind maps to archetypes.

Neste trabalho investigamos a base de conhecimentos para o ensino e o conhecimento pedagógico do conteúdo de um professor do ensino superior que se destacou sucessivamente nas avaliações institucionais aplicadas aos estudantes de uma Universidade Paulistana para aferir a qualidade e o desempenho de seus professores. Buscamos por meio de narrativas e de análises de documentos reconhecer os conhecimentos mobilizados e as peculiaridades da abordagem deste professor em sua prática docente. Esta pesquisa caracteriza-se como um estudo de caso único. Os dados utilizados envolvem todas as atividades e avaliações produzidas pelo professor para uma disciplina de bioquímica, o planejamento de ensino, a observação das aulas e o mapeamento de suas crenças didáticas. A coleta dos dados foi realizada a partir de observações não participantes das aulas, de entrevistas semiestruturadas registradas em áudio e vídeo e questionários. Os dados foram analisados através da Análise Textual Discursiva, pela qual utilizamos como categorias e subcategorias de análise as propostas no modelo de Grossman para identificar e sistematizar a base de conhecimentos para o ensino e o conhecimento pedagógico do conteúdo do professor. Na pesquisa, por meio da análise dos dados reconhecemos quatro pilares centrais que sustentam a atividade de ensino deste professor: (i) Contexto institucional; (ii) Base de conhecimentos; (iii) Reflexão sobre a prática e (iv) Dimensão pessoal. A base de conhecimentos deste professor para o ensino possui forte influência de sua trajetória profissional, particularmente de seu ingresso na docência. Seus conhecimentos foram construídos e ampliados, predominantemente, por meio de sua experiência em sala de aula e por reflexões estimuladas por atividades paralelas à docência. O contexto institucional ofereceu-lhe as condições de trabalho e a infraestrutura que viabiliza e favorece sua atuação e seu desenvolvimento profissional. Por fim, destacamos uma dimensão pessoal, pela qual reconhecemos um profundo interesse deste professor pela aprendizagem efetiva de seus alunos, sua capacidade de gestão da sala de aula e sua sensibilidade para reconhecer e utilizar as necessidades e os interesses dos alunos no processo de ensino. Este professor demonstra a competência de gerir as relações afetivas na sala de aula construindo espaços para participação direta do aluno na gestão das atividades e para sua atuação durante as aulas, construindo assim um ambiente afetivamente favorável à aprendizagem e à interação na sala de aula. / This research aimed to investigate the knowledge base for teaching in Higher Education and Pedagogical Content Knowledge (PCK) of an University Professor who has successively achieved outstanding results in institutional evaluations applied to students, aimed at assessing quality and performance.This research has been carried out as a single case study and data were collected in a Public Brazilian University, in the city of São Paulo. They involved all activities and assessment produced by a Biochemistry professor, such as: educational plan; lesson observation and the mapping of his teaching beliefs.The data were collected through narratives and documentation reviews, in order to recognize the mobilized knowledge and the peculiarities of his approach in teaching practices. It was also conducted from non-participant observations in lessons; semi-structured interviews, which were recorded in audio and videos, and questionnaires; the data were, then, further analyzed through Discursive Textual Analysis, in which the proposals of the Grossman\'s Model of Teacher Knowledge as categories and subcategories of analysis were used to identify and systematize the knowledge base for teaching and the professor\'s PCK. Through such analysis we have identified four central pillars which support his teaching activity: i. Institutional context; ii. knowledge base; iii. Reflection upon practice; and iv. personal dimension. His knowledge base has had a strong influence in his professional career, particularly as of joining teaching. It was predominantly built and expanded through his experience in the classroom and stimulated reflection upon activities developed parallel to teaching. The institutional context offered him work conditions and infrastructure which facilitates and promotes his practice and professional development. Finally, we highlight a personal dimension, in which we recognize a profound interest in his students\' effective learning, his classroom management skills and awareness in recognizing and using interests and needs of students in favor of the learning process.This professor demonstrated competence to manage emotional relationships in the classroom, creating space for direct students\' participation as well as the management of their own learning process, building, therefore, an emotionally favorable environment for learning and interaction in the classroom.

A literatura aponta modelos diferentes sobre a base de conhecimentos para o ensino que um professor deve dominar. Em decorrência dessas alternativas há também uma ausência de definições sobre o corpo de conhecimentos que necessite ser trabalhado nos cursos de formação de professores bem como avaliado nos concursos públicos de seleção de professores. O objetivo deste estudo foi delinear qual a base de conhecimentos para o ensino a legislação brasileira e os concursos públicos de professores estão priorizando. O foco foram os professores de Química para o Ensino Médio. O presente estudo traz um levantamento qualitativo e quantitativo dos conhecimentos avaliados nesses concursos, assim como a análise das políticas públicas vigentes na época desses processos seletivos. A análise teve como referencial teórico a base de conhecimentos de professores. O mapeamento dos conhecimentos base que um professor de Química deve possuir, segundo a legislação e os concursos públicos analisados, revela um professor que deve dominar o conteúdo específico de química, ter conhecimento das teorias pedagógicas, conseguir interpretar textos, conhecer a Lei de Diretrizes e Bases de 1996, saber usar um computador e ter conhecimentos de matemática básica, perfil este muito distante do que a literatura de conhecimentos de professores apresenta. A julgar pelos editais e pelas provas de concursos públicos, bem como pelos documentos de políticas públicas, nossos futuros professores basicamente precisam saber química mas não precisam saber lecionar química. Pelos documentos analisados, não há uma especificidade de conhecimentos que faça distinção entre a profissão professor de química e um químico. Assim, a contribuição que esses documentos analisados oferecem é um acirramento da desvalorização da profissão professor, quando na verdade deveriam atuar na direção oposta / The literature points different models about the knowledge base for teaching that a teacher should master. As a result of these alternatives there is also a lack of definitions about the body of knowledge that needs to be worked on in teacher training courses as well as evaluated in public teacher selection exams. The purpose of this study was to outline the knowledge base for teaching that Brazilian legislation and the public exams for selecting teachers are prioritizing. Our focus was the Chemistry Teachers for High School. The present study brings a qualitative and quantitative survey of the knowledge evaluated in these exams, as well as the analysis of the current public legislation at the time of these chemistry teachers selection exams. Our analysis was based on the knowledge base for teaching. The mapping of the knowledge base that a chemistry teacher must possess according to the legislation and public selection exams analyzed reveals a teacher who must know the specific content of chemistry, have knowledge of pedagogical theories, be able to interpret texts, know the Law of Education Guidelines and Bases of 1996, to know how to use a computer, this profile is very far from what the literature of teacher knowledge presents. Judging from the public exams, as well as from public policy documents, our future teachers basically need to know chemistry but do not need to know how to teach chemistry. From the documents analyzed, there is no specificity of knowledge that distinguishes between the chemistry teacher and a chemist. Thus, the contribution that these analyzed documents offer is a devaluation of the teacher profession, when in fact they should act in the opposite direction.

Esta tese apresenta um modelo de representação de conhecimento fundamentado em arquétipos para o mapeamento da base de conhecimento que separa a informação e o conhecimento. De um lado, a informação representada por uma estrutura de dados comum com o mínimo de semânticas e, do outro, o conhecimento especificado por arquétipos que representam os conceitos formais hierarquizados em matrizes. Os arquétipos permitem a integração de dados existentes e de sistemas não estruturados do ponto de vista da base de conhecimento. A pesquisa da tese objetivou a apresentação do modelo para o Mapeamento da Base de Conhecimento Fundamentado em Arquétipos, extraído de literatura formal e experiência na área de aplicabilidade, e a verificação de sua aderência em ambientes reais com a proposição do modelo através de um protótipo. Em se tratando de campo de aplicabilidade, o modelo concebido pode fazer frente aos problemas da área de informática em saúde, principalmente visualizando contribuições na construção de artefatos computacionais como as aplicações de Telessaúde. Assim, o modelo traz benefícios para a combinação do conhecimento técnico computacional dos profissionais de informática em saúde, com o conhecimento disciplinar em saúde, esse último consolidado na mente dos profissionais da área, ou mesmo de maneira explícita, em vários formatos: documentado em manuscritos, rotinas, processos, livros, e até mesmo em vídeos, voz, imagens médicas, resultados gráficos e numéricos de exames, entre outros. Desse modo, o modelo auxiliará no mapeamento do conhecimento disciplinar, como é a gestão do Registro Eletrônico de Saúde com suas operações de criação, identificação, coleta, armazenamento e acesso, de maneira mais natural aos profissionais de saúde. A estratégia de usabilidade considerada visa a que a gestão proceda de maneira mais natural, ou seja, sem necessidade de qualificação técnica especializada em sistema de informação. Além disso, o modelo permitiu a proposição de um método de conversão de Mapeamento da Base de Conhecimento, particularmente a partir de mapas mentais, para Arquétipos. / The thesis presents a model of knowledge representation based on archetypes for mapping the knowledge base which identifies information and knowledge. On the one hand, the information is represented by a common data structure with minimal semantic, and on the other hand, the knowledge is described by archetypes that represent concepts in formal hierarchical matrices. Archetypes are able to integrate existing data and unstructured systems from the knowledge base standpoint. The thesis research was aimed at presenting the model for mapping the knowledge base focused on archetypes, derived from formal literature and from expertise in the applicability area, and the verification of its adherence to real environments with the model proposition by means of a prototype. In terms of field applicability, the designed model can tackle the problems in the Health Informatics area, particularly visualizing contributions in building computational devices and Telehealth applications. Then, the model allows for the combination of computer professionals technical knowledge in health informatics with disciplinary knowledge in health, the latter consolidated in the health professionals minds, and even explicitly, in various formats: documented in manuscripts, routines, processes, books, and even videos, voice, medical images, graphics and tests numerical results, among others. Thus, the model will help in disciplinary knowledge mapping, according to the Electronic Health Record management operations, namely, creation, identification, collection, storage, and access in a way that is natural for the health professionals. The usability strategy considered in this thesis proposes that the management process acts in a more natural way, without the need for specialized technical skills in information system. In addition, the model allowed the conversion method of mapping knowledge base, particularly from mind maps to archetypes.

This self-study examined the learning that emerged from a change in teaching assignment coupled with self-initiated, teacher-led professional development in order to understand a high school science teacher's development as a teacher. The two participants in the study were the teacher/researcher, an experienced high school biology teacher who was taking up a new assignment teaching biotechnology, an advanced science course; and a first-year teacher assigned to teach biotechnology, who served as collaborator in the professional development and critical friend in the study. In order to uncover the teacher/researcher's learning and thinking, self-study of teaching practice methodology most clearly met the demands of the study. Data emerged from three research conversations and included transcripts of the conversations, artifacts from the participants' practices, notes from meetings, and memos. Data were analyzed using constant comparative methods and the understandings generated are grounded in the data. The study reveals shifts in teacher identity as the expert teacher takes up novice roles, the challenges encountered when teacher knowledge is insufficient for the teaching task, and the experienced teacher's need to return to a place of expertise when faced with a new teaching context. The study finds that (a) teacher identity shifts and develops in new teaching contexts, and teaching expertise facilitates expert identity development in such contexts; (b) expert teacher knowledge mediates novice-ness when experiencing new teaching contexts such as new teaching assignments; and (c) teacher-led professional development is a viable model for professional development experiences and can lead to increased teacher knowledge. The author suggests that (a) teachers are capable of determining what they need to learn and how they might best learn it in a professional development setting; (b) teachers' specific contexts should be honored when designing professional development, which should be practice-centered, and special attention should be given to developing specific subject matter knowledge, pedagogical content knowledge, and science knowledge for teaching; and (c) capable others should be included in collaborative professional development teams.

In knowledge-based engineering, the inference engine plays an important part in the behaviour of the system. A flexible and adaptive execution scheme allows the designer to experiment with different modes of operation and selecting an appropriate one with respect to the initial data set and the execution goal. In this project, an extension of an existing research prototype software in the field of knowledge-based engineering will be developed, with the goal of building a reliable and easy to use dependency resolution engine that will replace a less-than-ideal current implementation of the same. A discussion will be included how the knowledge concepts and objects can be represented in an abstract mathematical form, converting at the same time the problem of dependency resolution to a more formally specified one in terms of the data abstraction proposed. Some algorithms and methods that are used to operate on the data set will be discussed from both a theoretical and programming point of view, analysing their complexity, proposing and testing their implementation. Graphical interface controls that can be used to visualize and understand easily the relations in the available knowledge base will be also demonstrated. The testing and verification of the resulting software will be presented, comparing its behaviour against reference tools serving similar purposes. Methods for validating the consistency of the knowledge base will also be discussed. Finally, the integration of the newly-developed code within the context of the prototype will be discussed, commenting on the new features and functionality gained.

Modeling spatiotemporal data, in particular fuzzy and complex spatial objects representing geographic entities and relations, is a topic of great importance in geographic information systems, computer vision, environmental data management systems, etc. Because of complex requirements, it is challenging to design a database for spatiotemporal data and its features and to effectively query them. This thesis presents a new approach for modeling, indexing and querying the spatiotemporal data of fuzzy spatial and complex objects and/or spatial relations. As a case study, we model and implement a meteorological application in an intelligent database architecture, which combines an object-oriented database with a knowledge base.