Contemporary theories frame emotion as an intra-personal system comprised of subcomponents such as experience, expressive behaviors, and physiology that interact over time to give rise to emotional episodes. Emotional episodes occur in the context of a social interaction or an ongoing relationship making it important to also conceptualize the inter-personal emotion system in which the subcomponents of the emotional response interact not only within the individual but across the partners as well. Emotion theory has been constricted by a dominant linear information processing metaphor and has not yet fully embraced a dynamic systems approach integrating concepts of open, self-organizing systems to interpersonal emotion regulation processes. To address these limitations, this study examined the emergence of structure and patterns in real-time dyadic interactions between pairs of female strangers where one partner is purposefully regulating her emotional responding. One member of each dyad was randomly assigned to suppress, positively reappraise, or act normally during an interaction task. Three subcomponents of emotion were examined (expressive behaviors, experience, and physiology) along with three features of dynamic systems (attractor basins, flexibility/entropy, and physiological linkage). Results indicate differences in the emergence of structure and patterns in real-time dyadic interactions that varies by emotional responding type. Suppression dyads were characterized by a non-emotional response attractor, reduced behavioral flexibility, stronger physiological linkage as compared to control and reappraisal dyads. Reappraisal dyads expressed more positive emotions during the interaction than control or suppression dyads, and reappraisal partners showed evidence of positive physiological linkage with the reappraiser. In conclusion, structural patterns do differ by emotion regulation condition indicating the importance of intrapersonal phenomena on the emergence of interpersonal system dynamics.

Based on the assumption that security institutions are designed rationally, I study the variations in design schemes and their possible effects on institutional performance. Military alliances vary with respect to their membership size, level of security obligations undertaken by the allies, incorporation of non security clauses such as economic agreements, level of institutionalization, specified duration of existence, as well as the conditions under and reasons for which they are formed. This dissertation studies the effects of above mentioned design features on the probability of security alliances expanding their scope by addressing non-security agreements such as free trade agreements and conflict management clauses. I find support for the argument that states include economic agreements within a military alliance as a means to bolster the credibility of an otherwise weak security alliance. Results indicate that allies facing high levels of external threat and low levels of intra alliance cohesion are more likely to include conflict management provisions in the alliance. Finally, I conduct a systematic study of the possible effects of variation in structural design on the durability of an alliance. I find that design features that increase the costs of breaking the alliance increase the duration of an alliance.

With widespread use of the Internet, data is often shared between organizations in B2B health care networks. Integrating data across all sources in a health care network would be useful to public health surveillance and provide a complete view of how the overall network is performing. Because of the lack of standardization for a common data model across organizations, matching identities between different locations in order to link and aggregate records is difficult. Moreover, privacy legislation controls the use of personal information, and health care data is very sensitive in nature so the protection of data privacy and prevention of personal health information leaks is more important than ever. Throughout the process of integrating data sets from different organizations, consent (explicitly or implicitly) and/or permission to use must be in place, data sets must be de-identified, and identity must be protected. Furthermore, one must ensure that combining data sets from different data sources into a single consolidated data set does not create data that may be potentially re-identified even when only summary data records are created. In this thesis, we propose new privacy preserving data integration protocols for public health surveillance, identify a set of privacy preserving data integration patterns, and propose a supporting framework that combines a methodology and architecture with which to implement these protocols in practice. Our work is validated with two real world case studies that were developed in partnership with two different public health surveillance organizations.

Indexing and processing strings are very important topics in database management. Strings can be database records, DNA sequences, protein sequences, or plain text. Various string operations are required for several application categories, such as bioinformatics and entity resolution. When the string count or sizes become very large, several state-of-the-art techniques for indexing and processing such strings may fail or behave very inefficiently. Modifying an existing technique to overcome these issues is not usually straightforward or even possible. A category of string operations can be facilitated by the suffix tree data structure, which basically indexes a long string to enable efficient finding of any substring of the indexed string, and can be used in other operations as well, such as approximate string matching. In this document, we introduce a novel efficient method to construct the suffix tree index for very long strings using parallel architectures, which is a major challenge in this category. Another category of string operations require clustering similar strings in order to perform application-specific processing on the resulting possibly-overlapping clusters. In this document, based on clustering similar strings, we introduce a novel efficient technique for record linkage and entity resolution, and a novel method for correcting errors in a large number of small strings (read sequences) generated by the DNA sequencing machines.

Les tilapias (espèces Oreochromis) sont le second groupe le plus important de poissons dans l'aquaculture mondiale ainsi qu'une des premières sources de protéines animales pour des millions de personnes dans les pays en cours de développement. En effet, Les tilapias ont la plupart des qualités requises dans le monde aquacole comme un taux de croissance important et une résistance aux maladies. Cependant leurs reproductions précoces et continues provoquent une surpopulation des bassins et un nanisme des individus. Pour surmonter ces difficultés, il s'agit de créer de nouvelles méthodes de contrôle du sexe (génétique et température) pour une meilleure compréhension de la détermination du sexe chez le tilapia. La détermination sexuelle chez les tilapias est complexe. En effet, le sexe est influencé par des facteurs génétiques majeurs (XX/XY), des facteurs génétiques mineur (sur les autosomes : LG3, LG23) et la température. Au cours des dernières années, de nombreuses ressources génomiques ont été progressivement développées (Bac End Sequences, Expressed sequence Tag, physical map, RH map…). Dans ce travail de thèse nous avons cherché à identifier, par des approches in silico, des gènes liés au sexe, en nous intéressant, en particulier, à ceux localisés sur LG3. Nous avons divisé notre travail en deux étapes. La première recouvre des travaux préliminaires de collecte et de comparaison d'informations existantes. Elle s'est concrétisée par la création d'une carte physique comparée entre le génome complet de l'épinoche et des BES du tilapia ainsi que d'une carte RH du tilapia. La deuxième étape porte sur l'analyse du chromosome correspondant au LG3 (Chr3). Nous avons pu grâce aux méthodes, outils et données développés lors de la première étape, reconstituer le Chr3, l'annoter et faire une liste de gènes impliqués dans la cascade du sexe chez le tilapia du Nil. / Tilapias (Oreochromis spp.) are the second most important fish group in aquaculture and a primary source of animal protein for millions of people in developing countries. Indeed, Tilapias have most of the qualities required in aquaculture such as a good growth-rate and resistance to diseases. Nevertheless, their early and constant reproduction leads to tank overpopulation and dwarfism of individuals. To overcome this, new sex controlling methods (genetics and temperature) are being studied to better understand the sex determination in tilapia. Sex determination in tilapia is complex since sex is influenced by major genetic factors (XX/XY), minor genetic factors (on an autosome: LG3, LG23) and temperature factors. Over the past years a great effort has been done to increase the genomic tools in tilapia by obtaining data on Bac End Sequences (BES), Expressed Sequence tags (EST), physical map, RH map.... The objective of our work is to identify, by in silico approaches, genes associated to sex, especially the ones located on the linkage group LG3. We divided our work in two steps. The first work is to collect heterogeneous and available information existing on tilapia using comparative genomic analyses. This step led to the creation of a comparative physical map between the complete genome of stickleback and the BES of tilapia along with a tilapia RH map. The second step is to analyse the chromosome corresponding to the LG3 (Chr3). Using methods, tools and data developed during the first step, we recreated the Chr3, annotated it and listed the genes involved in the sex cascade in Nile tilapia.

Orientador: Antônio OrlandoDi Mauro / Coorientador: Sandra Helena Unêda-Trevisoli / Banca: Everton Luis Finotto / Banca: Gustavo Vitti Moro / Resumo: Atualmente, a soja destaca-se como a mais importante oleaginosa cultivada no mundo, sendo que o Brasil e os EUA se destacam como os maiores produtores mundiais. O Brasil nas últimas três décadas, apresentou aumento significativo tanto no volume de produção, quanto na produtividade desta cultura. Esta evolução é justificada pela melhoria das condições de cultivo nas diversas regiões brasileiras, mas principalmente pela obtenção de novas cultivares merolhadas. O sistema produtivo de soja do país tem exigido dos programas de melhoramento genético o desenvolvimento de cultivares precoces, com altas produtividades e resistentes as diversas doenças que ocorrem na cultura, sendo que a ferrugem asiática, destacou-se na última década como a mais importante. Dentre as várias fases de um programa de melhoramento merece destaque o planejamento e a síntese dos cruzamentos, onde informações referentes à divergência genética são fundamentais, pois estes estudos norteiam a tomada de decisão, na obtenção de populações segregantes superiores e promissoras. Apenas informações referentes à divergência genética não são suficientes para escolha de parentais para hibridação, a mesma deve vir acompanhada de informações referente ao desempenho do genótipo, quanto a algumas características desejáveis. Os capítulos seguintes apresentarão estudos sobre a divergência genética e o desempenho agronômico em genótipos de soja superiores, através da caracterização fenotípica dos mesmos. / Abstract: Today, soybean is the most important oil seed crop in the world, where Brazil and USA are the world's largest producers. In the last three decades, the Brazilian production and yield of soybean increased significantly. This evolution is justified by the improvement of growing conditions in different regions of Brazil, but mainly for the crop breeding programs. The Brazilian soybean production system has required early soybean varieties from the breeding programs with high yield and resistant to many diseases, especially the Asian rust, one of the most important disease in the last decade. Among the several steps of a breeding program, the two steps that deserve attention are the planning and synthesis of crossings, where information about genetic divergence is critical, because these studies guide the decision making to get higher and promising segregating populations. Only information regarding divergence genetic is not enough for choosing parental for hybridization, because the information must be accompanied by information about genotype performance of for some desirable characteristics. The following chapters will present studies on divergence genetic and agronomic performance in higher soybean genotypes by phenotypic characterization. / Mestre

Orientador: Leandro Borges Lemos / Coorientador: Gustavo Vitti Môro / Banca: Domingos Fornasieri Filho / Banca: Ivana Marino Bárbaro / Resumo: A cultura do milho ocupa posição de destaque tanto em pesquisas científicas quanto na economia mundial, sendo o Brasil um dos maiores produtores do grão. O elevado potencial produtivo se deve aos programas de melhoramento genético de plantas, onde a seleção de genótipos superiores é realizada com base em índices de seleção. Essa estratégia tem sido eficiente para a obtenção de genótipos superiores, por permitir obter simultaneamente ganhos para caracteres de importância agronômica / econômica. Desta forma, os objetivos do presente trabalho consistiram em mensurar o ganho genético com a seleção de linhagens, baseada em índices de seleção, comparando a eficiência dos diferentes índices e verificando qual (is) é (são) mais indicados para a seleção fenotípica de linhagens de milho. Para isso, 256 linhagens foram avaliadas em experimentos com duas repetições em doze ambientes. Foram considerados os caracteres: produção de grãos, prolificidade, acamamento e quebramento de plantas, altura da planta, altura da espiga, posição relativa da espiga, florescimento feminino e masculino, e intervalo entre florescimentos. Foram aplicadas intensidades de seleção de 10% e 20% para seleção direta e para sete índices. Os resultados das análises indicaram que a seleção direta dos caracteres não foi efetiva na seleção de genótipos superiores. Os índices de Smith & Hazel/ 1943 e Willians/ 1962 resultaram em maiores ganhos para os genótipos estudados / Abstract: Corn is a crop of great importance, occupying a preeminent position both in scientific research and in the world economy, with Brazil being one of the largest grain producers. Increased production and productivity are due in part to the plant breeding programs, where the selection of superior genotypes is performed based on selection indexes. This strategy has been effective for obtaining superior genotypes since it allows to obtain simultaneously gains for many traits of agronomic/economic importance. Thus, the objectives of this work consisted in measuring the genetic gain from selection of lines, which is based on selection indexes , and to compare the efficiency of different indexes to check which one (s) is (are) best suited for phenotypic selection of maize lines. For this, 256 lines were evaluated in experiments with repetition in twelve environments. Grain production, prolificacy, lodging and breaking plant, plant height, ear height, relative position of the spike, male and female flowering, and interval between flushes: the characters were considered. Selection intensities of 10 % and 20% for direct selection and for the seven indices under study were applied. The analysis results indicated that direct selection of characters was not effective in selecting superior genotypes. The indices of Smith & Hazel (1943) and Williams (1962) resulted in greater gains for the genotypes evaluated / Mestre

A síndrome aurículo-condilar (ACS) apresenta um modelo de herança autossômica dominante e é principalmente caracterizada por malformações auriculares, articulação temporomandibular anormal e hipoplasia do côndilo e da mandíbula. Devido às estruturas acometidas, é considerada uma patologia de primeiro e segundo arcos faríngeos. Com somente alguns casos clínicos descritos na literatura, o gene causador da ACS não é conhecido. Estudos recentes de nosso grupo mapearam o primeiro lócus associado à síndrome, 1p21.1-q23.3 (família ACS1), enquanto que na segunda família estudada por nós (ACS2), não houve evidência de ligação com os marcadores desta região, sugerindo heterogeneidade genética a esta doença. Nossos principais objetivos no presente trabalho foram: identificar o gene responsável por ACS1 e mapear o lócus associado à ACS2. Para o estudo de ACS1, dada a grande extensão da região candidata, com aproximadamente 1004 genes, utilizamos uma abordagem alternativa: análise de transcriptoma durante a diferenciação condrogênica a partir de células-tronco mesenquimais para seleção e subseqüente seqüenciamento de genes candidatos. Através do estudo de expressão gênica entre controle e paciente ACS1, selecionamos e realizamos o seqüenciamento de dois genes. Não detectamos nenhuma alteração patogênica nestes genes e, portanto, é pouco provável que um destes seja responsável pela ACS1. Já na família com ACS2, através de estudo de ligação com uso de microarrays de SNP e marcadores microssatélites, mapeamos o segundo lócus associado à ACS. Estudos complementares estão sendo realizados para a identificação dos alelos causadores de ACS1 e ACS2. Estes resultados, além de sua importância para o aconselhamento genético, poderão contribuir para a compreensão do desenvolvimento embrionário das estruturas acometidas nessa síndrome. / The auriculo-condylar syndrome is an autosomal dominant disease characterized by malformed ears, abnormal temporomandibular joint and condyle and mandible hypoplasia. It is considered a syndrome of the first and second pharyngeal arches. With only a few clinical cases reported in the literature, the gene that causes ACS is not known. Recent studies from our group mapped the first locus associated to the syndrome, 1p21.1-q23.3 (ACS1 family), while in the second family studied by us (ACS2), there was no evidence of linkage with this region, suggesting genetic heterogeneity of this disease. Our main objective in this study was to identify the gene responsible for ACS1 and map the locus associated to ACS2. In the study of ACS1, given the large extent of the candidate region, with approximately 1004 genes, we used an alternative approach: transcriptome analysis during chondrogenic differentiation of stem cells of a patient and a control for screening and subsequent sequencing of candidate genes. The two genes selected through this strategy were sequenced in ACS1 patients, however, not pathogenic mutation was identified. Therefore, it is very unlikely that mutations in these genes are causative of ACS1. In the family with ACS2, through linkage study using SNP microarray and microsatellite markers, we mapped the second locus associated to ACS. Additional studies are being conducted in order to identify the alleles causing ACS1 and ACS2. These results will not only contribute to a better genetic counseling for families with ACS but they will also contribute to the understanding of the embryonic development of the structures affected in this syndrome.

As distrofias musculares tipo cinturas (DMC) incluem um grupo heterogêneo de doenças genéticas, caracterizadas por degeneração progressiva da musculatura esquelética pélvica e escapular, cuja herança pode ser autossômica dominante (DMC1) ou autossômica recessiva (DMC2). As formas dominantes são relativamente raras, compreendendo menos que 10% dos casos. Até o momento foram mapeados 8 locos para DMC1, (DMC1A-H), onde 3 genes já foram identificados (DMC1A-C) e 17 locos para DMC2 (DMC2A-Q), onde 16 genes já foram identificados. No presente estudo, identificamos uma família uruguaia (família 1) com 11 indivíduos afetados por DMC, distribuídos em 3 gerações, com um padrão de herança autossômico dominante. Os objetivos desse trabalho foram: mapear e refinar o loco gênico associado a uma manifestação familiar de DMC1, verificar se há co-localização da região mapeada com outras formas de DMC1 descritas na literatura e, apontar genes candidatos na região mapeada e triar mutações. Foi realizado estudo de ligação, no qual mapeou-se o loco para essa doença na região 4q13-q24 com Lod score de valor máximo 4.78 para o marcador D4S414. A região foi delimitada entre os marcadores D4S392 e D4S1572. A análise da região redefiniu o loco em 4q21.22-21.23, com uma redução de 33 Mb para 4Mb. Esse loco compreende a DMC1G (família 2), descrita anteriormente pelo nosso grupo. A triagem de mutação, realizada em amostras de afetados das duas famílias, nos permitiu encontrar uma alteração Thr141Iso no exon 5 do gene FAM175A apenas nos pacientes da família 2. Essa mesma alteração foi encontrada em 1 dos 500 controles testados, o que não nos permite excluir esse gene como um candidato para DMC1G já vez que essa frequência foi inferior a 1%. O fato dessa alteração não ter sido vista na família 1 também não nos permite excluí-lo, pois foi sequenciada apenas a região exônica e a metodologia utilizada também não nos permite verificar deleções nem duplicações. Estudos mais detalhados precisam ser realizados a fim de elucidar: (1) se a alteração desse gene é a causadora dessas DMCs ou, (2) se excluído esse gene, poderia ser o responsável. / Limb girdle muscular dystrophy (LGMD) include a heterogeneous group of genetic diseases characterized by progressive degeneration of skeletal muscles of the pelvic and scapular girdles, whose inheritance may be autosomal dominant (LGMD1) or autosomal recessive (LGMD2). The dominant forms are relatively rare, comprising less than 10% of cases. So far eight loci were mapped for LGMD1 (LGMD1A-H), where three genes have been identified (LGMD1A-C) and 17 loci for LGMD2 (LGMD2A-Q), with 16 identified genes. In this study, we analised a family from Uruguay (family 1) with 12 individuals affected by LGMD, with an autosomal dominant pattern distributed in three generations. The objectives of this study were: to map and refine the gene locus associated with a familial DMC1, check for co-location of the mapped region to other forms of DMC1 described in the literature and, to point candidate genes mapped in the region and to screen mutations. A linkage study was conducted, and we mapped the locus for this disease in the region 4q13-q24 with a maximum Lod score of 4.78 for marker D4S414. The region was defined between markers D4S392 and D4S1572. The analysis of the region has redefined the locus to 4q21.22-in 21:23, a reduction from 33 Mb to 4 Mb. This site includes LGMD1G (family 2), previously described by our group. Mutation screening, performed on samples of affected pacients from both families, allowed us to find a modification Thr141Iso in exon 5 on FAM175A gene only in patients of family 2. This same alteration was found in one of the 500 controls tested but does not allow us to exclude this gene as a candidate for LGMD1G since that frequency was less than 1%. The fact that this change was not seen in a family 1 does not allow us to exclude it either because only the exonic region was sequenced and the methodology used does not allow us to detect deletions or duplications. More detailed studies should be conducted to elucidate: (1) whether the alteration found in this gene is the cause of these DMCs, or (2) if not this gene, which could be the one responsible.

Esta pesquisa teve como objetivo investigar o processo de construção da parentalidade em casais homossexuais masculinos com filhos adotivos, com ênfase nas questões vinculares e geracionais. As transformações nas relações conjugais, parentais e familiares na contemporaneidade, apontam um questionamento da ordem simbólica, desestabilizando a ordem heteronormativa e desmascarando a sacralidade da família tradicional, a qual já não pode mais ser considerada a única base para a construção identitária. Diante do crescente aparecimento e visibilidade das novas configurações familiares, em especial da homoparentalidade, e da movimentação na relação pai/mãe e nas funções materna e paterna torna-se fundamental o estudo de outros funcionamentos familiares igualitários e criativos, em que a norma heterocêntrica não funciona como imperativo. Observa-se que nos encontramos em um momento de experimentação dessas novas famílias, o que traz consigo questionamentos e preocupações concernentes às especificidades no processo de vinculação entre pais homossexuais e seus filhos, por exemplo, o relacionado com o Complexo de Édipo. O referencial teórico utilizado nesta tese é o da psicanálise vincular aliada à teoria queer de gênero. O método utilizado é o clínico qualitativo com entrevistas semidirigidas e a aplicação da técnica projetiva do genograma. Com estes instrumentos, o objetivo pretendido foi compreender a construção da parentalidade lançando um olhar às transformações dos continentes psíquicos no contexto da adoção - considerada em sua complexidade. Para tanto, foram entrevistados cinco casais de homens com filho/s adotado/s conjuntamente. Os encontros ocorreram na casa dos colaboradores e a análise dos resultados foi feita em três categorias criadas a posteriori das entrevistas. Tendo como eixo central a questão vincular, as categorias elaboradas foram as seguintes: 1) Vínculo conjugal e a escolha pela parentalidade; 2) O vínculo parental e; 3) O vínculo familiar, o legado geracional e a família atual. A discussão dos achados da pesquisa compreendeu uma visão ampliada dos resultados, os quais foram tratados a partir de três eixos relacionados às categorias de análise: 1) Assunção homossexual e o não dito; 2) Adoção como uma forma de parentalizar e reparar e; 3) Família e norma, a nomeação dos membros como indicativo relacional. Os resultados encontrados remontam alguns diferenciais no exercício da parentalidade homossexual, a partir dos quais se destacam três que marcam a especificidade dessa experiência: 1) Os efeitos da falta de modelos parentais alternativos e a construção do vínculo parental; 2) O desejo de fazer família como forma de recuperar algo perdido e; 3) A presença da alteridade na família homoparental como potência para a subjetivação dos filhos. Para finalizar, as considerações finais retomam as reflexões sobre o conceito de família, seu significado e os modos como a dinâmica relacional e seus vínculos afetam a saúde psíquica de seus membros. Nesses termos, defendem-se a premissa da alteridade, em substituição à diferença sexual como garantia de subjetivação para as crianças provenientes desses novos arranjos / This research aimed to investigate the process of parenthood construction in homosexual couples with adoptive children, emphasizing on the linkage and generational issues. The transformation on couple, parental and familiar relations on contemporaneity, points to a questioning of the symbolic order, destabilizing the heteronormative order and unmasking the sacrality of the traditional family, which can no longer be considered the only basis for the identitary construction. Before the growing emergence and visibility of the new familiar configurations, specially homoparenthood, and the motion on relation father/mother and on maternal and paternal functions it becomes fundamental to study other familiar functions more even and creative, in which the heterocentric norm does not work as an imperative. It can be noticed that we are at a moment of experimenting for these new families, what brings questionings and worries concerning to the specificities on the process of linkage between homosexual parents and their children, for example related to the Oedipal Complex. The theoretical reference used in this thesis is the Linkage Psychoanalysis, associated to the queer theory of gender. The method employed is the clinical qualitative clinical with semi directed interviews and the application of a projective technic of genogram. The purpose was to comprehend the construction of the parenthood - observing the transformation of the psychic continents in the context of adoption considered in its complexity. This way, five couples of men with children adopted together were interviewed. The meeting occurred in the house of the participants and the analysis of the results was made in three categories created after the interviews. The categories are: 1) Conjugal bond and the choice for parenthood, 2) The parental bond and 3) The familiar bond, the generational legacy and the actual family. The discussion of the findings from the research understands an amplified vision of the results, treated in three themes related to the categories of analysis: 1) Homosexual assumption and the Non-spoken, 2) Adoption as a way of parenting and reparing and 3) Family and norm, Naming the members as a relational indicative. The results point to some differentials in the homosexual parenthood, from which we point out three of these for marking the specificity of these experience: 1) The effects of the lack of alternative parental models and the construction of the parental bond, 2) The desire of making family as a way of recovering something lost and 3) The presence of otherness in homoparental family as a might to the childrens subjectivation. The final considerations retake the reflections about the concept of family, its meaning and the ways how the relational dynamics and its bonds affect the psychic health of its members. In these terms, we defend the premise of otherness, in replacement to the sexual difference as a guarantee to the subjectivation for the children from these new arrangements