A síndrome do x-frágil (SXF) é a principal causa de deficiência mental herdada, sendo suplantada apenas pela síndrome de Down (SD). Alguns estudos sugerem que ela afeta 1 a cada 4000 homens e 1 a cada 6000 mulheres (Turner, Web, Wake & Robinson, 1996) e com incidência de pré-mutação em torno de 1 para cada 200 cromossomos X (Watson, 2005). A alta prevalência estatística torna claro que a SXF é uma das doenças genéticas mais comuns em seres humanos, mas ainda não corretamente diagnosticada. Caracteriza-se por ser hereditária, sendo a mulher a principal transmissora. Indivíduos com a SXF apresentam um conjunto de características físicas, clínicas, comportamentais e cognitivas, que podem causar um impacto no sistema familiar e, em especial, nas figuras parentais. Este estudo investiga o estresse e o autoconceito em pais e mães de meninos com a SXF, SD e desenvolvimento típico (DT), baseado no modelo biopsicossocial de Bradford (1997). A amostra total foi composta por pais e mães biológicos de meninos com a SXF (n=30), SD (n=30) e DT (n=30). As hipóteses são que pais e mães dos grupos SXF e SD apresentam níveis mais elevados de estresse do que os do grupo DT; que as mães do grupo SXF apresentam maior nível de estresse e maior prejuízo em seu autoconceito do que os pais desse mesmo grupo, tendo em conta o fato de serem as transmissoras; e que as mães do grupo SXF apresentam um autoconceito negativo se comparado às mães dos grupos SD e DT. Os resultados não revelaram diferença significativa na variável estresse, apesar de haver uma clara tendência das mães dos grupos SXF e SD em apresentar níveis mais altos de estresse. A presença de suporte encontrado (apoio e orientação) pode ter contribuído para a ausência de um estresse mais exacerbado. Os resultados também revelaram uma diferença significativa no autoconceito (self pessoal) entre as mães de crianças com a SXF e as mães de crianças com desenvolvimento típico, sugerindo que o fator da transmissão pode estar implicado no prejuízo no autoconceito. / The Fragile X Syndrome (FXS) is the main cause of hereditary mental retardation, being lower only by Down Syndrome (DS). Some studies suggest that it affects 1 in 4000 males and 1 in 6000 females (Turner, Web, Wake & Robinson 1996) and the pre-mutation incidence is around of the 1 in 200 X chromosomes (Watson, 2005). The high statistical prevalence make it clear that FXS is one of the most common genetic diseases in humans, but it is not yet correctly diagnosed. It is characterized by hereditary and the woman is the principal transmitter. People with the FXS have a cluster of physical, clinical, behavioral and mental characteristics. These impairments are likely to have an impact in the family, especially in the parents. This study investigates the stress and the self-concept in mothers and fathers of boys with FXS, DS and typical development (TD), based on the Bradford’s biopsicosocial model (1997). The total sample was comprised of biological mothers and fathers (married couple) of boys with FXS (n=30), DS (n=30) and TD (n=30). The hypothesis are that the SXF and DS parents show more stress than TD’s parents; the mothers of FXS show more stress and difficult in their self-concept than fathers, taking into account that mothers are the obligate carrier; and the FXS’s mothers have a negative self-concept when compared to DS and TD’s mothers. Although the results didn’t show significant differences in the stress variable, there was a clear tendency of mothers of FXS and DS in showing more stress than fathers and than TD’s parents. The occurrence of social support may have contributed to the absence of significant differences. The results also reveal a significant difference in the self-concept (self pessoal) between the mothers of FXS and of TD’children, suggesting that the transmission factor can play a part in the self-concept impairment.

As dificuldades de aprendizagem matemática constituem um campo bastante complexo e ainda relativamente pouco explorado. Pesquisas com síndromes associadas ao baixo desempenho matemático indicam que há diferentes perfis cognitivos subjacentes às dificuldades na matemática e nos mostram que nem toda dificuldade de aprendizagem matemática é originada da mesma maneira. Esta dissertação de mestrado apresenta dois estudos de caso: um realizado com estudante com Síndrome do X-Frágil e o outro com estudante com Síndrome de Prader-Willi. O objetivo foi investigar e compreender a aquisição dos princípios e procedimentos de contagem numérica e recuperação de fatos aditivos da memória em cada estudante. Os dados foram obtidos a partir de análise documental, observações em sala de aula e no espaço escolar e aplicação de tarefas para investigação do senso numérico, dos princípios e procedimentos de contagem e da recuperação de fatos aditivos da memória. Os resultados obtidos indicaram que os sujeitos pesquisados apresentam lentidão no processo de aprendizagem, especialmente na construção dos princípios da contagem numérica, falhas no desenvolvimento do senso numérico e não utilizaram recuperação dos fatos aditivos da memória. As implicações educacionais resultantes deste estudo, principalmente no que diz respeito à educação inclusiva, determinam a necessidade de um novo olhar para o processo de inclusão de estudantes com diferentes síndromes em salas de aulas regulares, pois suas características cognitivas e comportamentais indicam que a inclusão por si só não garante o sucesso escolar. / The difficulties in learning mathematics are a very complex field and still relatively unexplored. Researches of syndromes associated with low mathematical performance indicates that different cognitive profiles underlie math learning difficulties and show us that not all of these difficulties have the same origins. This dissertation presents two case studies: one with Fragile X Syndrome (FXS) and another with Prader-Willi Syndrome (PWS). The objective was to investigate and understand the acquisition of the principles and procedures of numerical count and recovery additive facts from memory in each student. The data obtained were from documental analysis, observations in the classroom and in the school playground and applying tasks to investigate the number sense, the principles and procedures of numerical count and recovery additive facts from memory. The results indicated that the subjects studied show slow learning process, especially in the construction of the principles of counting, flawed development of number sense and did not recovery additive facts from memory. The educational implications, particularly in inclusive educations, determine a new look at the process of students with different syndromes in regular classrooms because their cognitive behavioral characteristics indicate that the inclusion only does not guarantee school success.

A ruptura de materiais heterogêneos quase frágeis, como o concreto, as cerâmicas e diferentes tipos de rochas, tem um comportamento mecânico complexo, foco de estudo de pesquisadores já há muito tempo. Uma ferramenta para simular o comportamento até ruptura destes tipos de materiais são os métodos de elementos discretos formados por barras (Discrete Element Method - DEM). Neste método as massas são concentradas em pontos nodais que estão ligados por meio de elementos unidimensionais caracterizados por relações constitutivas uniaxiais simples. Neste contexto, realizam-se novas implementações na versão do DEM com o intuito de estudar diversos aspectos dos materiais quase frágeis. Os principais focos da tese estão na desvinculação do nível de discretização do modelo do comprimento de correlação dos campos aleatórios que caracterizam as propriedades mecânicas. Através da interpretação dos resultados na simulação de emissão acústica é possível conhecer melhor o processo de dano neste tipo de material. Testes experimentais preliminares também são apresentados. Também são realizadas simulações em DEM utilizando carregamento biaxial, onde é explorado nessas simulações o comportamento dos modelos sob a ótica da técnica de emissão acústica. / The rupture of heterogeneous materials quasi-fragile, like concrete, ceramics and different types of rocks have a complex mechanical behavior, which has been the focus of study by researchers for a long time. The truss-like Discrete Element Method (DEM) was used to perform numerical simulations of the testing processes. The test results and the results of the numerical analyses, in terms of load vs. time diagram and AE data, as determined through b-value. In this context, new implementations in the version of DEM were realized with the objective to study the aspects of quasi-fragile materials. The main focuses of the thesis are in untying the level of discretization of the model of the correlation length from random fields which characterize the mechanical properties. And, through the interpretation of the results in the simulation of the acoustic emission, it is possible to better understand the process of damage in this type of material. Are also performed in DEM the biaxial loading, where is explored in this simulations the behavior of models from the point of view of the acoustic emission technique.

A Síndrome do X frágil (SXF) é a forma mais comum de deficiência intelectual herdada. É causada por uma mutação no gene FMR1; (Fragile X Mental Retardation 1;), que resulta na deficiência da proteína FMRP (Fragile X Mental Retardation Protein;). O gene FMR1;, localizado no braço longo do cromossomo X, em Xq27.3, possui uma repetição de trinucleotídeos (CGG)n em sua região 5\' não traduzida (região reguladora). Na população geral, o tamanho dessa repetição varia entre 5 a 44 trincas de bases. Uma expansão superior a 200 trinucleotídeos leva à hipermetilação e consequente silenciamento da transcrição do gene. Quando isso ocorre, tem-se uma mutação completa, a causa da SXF. Se a repetição expandida tem de 55 a 200 trincas de bases, chamada de pré-mutação, não ocorre hipermetilação e a proteína FMRP é produzida; portanto, a pré-mutação não está associada à SXF, porém está relacionada a outros quadros clínicos, particularmente à síndrome de tremor/ataxia associada ao X frágil (FXTAS; Fragile-X associated Tremor Ataxia Syndrome;) e à insuficiência ovariana primária associada ao X frágil (FXPOI; Fragile-X associated Primary Ovarian Insufficiency;). O objetivo deste trabalho foi investigar duas famílias cujos casos-índice foram encaminhados para o Centro de Pesquisa sobre o Genoma Humano e Células-Tronco para investigar ataxia espinocerebelar e nos quais a avaliação clínica e a história familial sugeriram a possibilidade de FXTAS; em ambos os pacientes, pré-mutação do gene FMR1; foi detectada. Na Família 1, foi feito o diagnóstico de SXF em um neto da propósita e foi identificada a mutação completa em várias filhas e netas, todas com dificuldade de aprendizado. Na Família 2 não foram identificadas mutações completas e em um dos netos do propósito detectou-se mosaicismo de alelo intermediário e pré-mutação. Assim, diante da variada apresentação fenotípica, a possibilidade de condição associada ao gene FMR1; deve ser considerada frente aos fenótipos de deficiência intelectual, dificuldade de aprendizado, falência ovariana prematura e síndrome de tremor-ataxia. O diagnóstico de FXTAS em famílias em que não há registro de SXF não é frequente, provavelmente diante do desconhecimento dessa possibilidade, mas tem importância fundamental para o aconselhamento genético, particularmente quanto à ocorrência de deficiência intelectual / RIBEIRO, M. D. O. From top to bottom: genetic counseling in families ascertained through fragile X-associated tremor/ataxia syndrome (FXTAS) 2017. 64 f. Dissertação (Mestrado em Aconselhamento Genético e Genômica Humana) - Instituto de Biociências, Universidade de São Paulo, São Paulo, 2017. Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. It is caused by a mutation in the Fragile X Mental Retardation 1 (FMR1;) gene located on the long arm of the X chromosome at Xq27.3 that results in FMRP (Fragile X Mental Retardation Protein) deficiency. The FMR1; gene has a trinucleotide repeat (CGG)n at the 5\' untranslated region (regulatory region); in the general population, this repeat varies in size from 5 to 44 CGG triplets. An expanded repeat of more than 200 trinucleotides leads to hypermethylation and consequent silencing of the gene transcription - the full mutation that causes FXS. The repeat containing 55 to 200 triplets characterizes a premutation; there is no hypermethylation, the gene is transcribed, and the FMRP is produced; then premutations are not associated with FXS, but are related to other clinical conditions: Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The objective of this study was to investigate two families whose index cases were referred to the Centro de Pesquisa sobre o Genoma Humano e Células-Tronco to investigate spinocerebellar ataxia, whose clinical evaluation and family history suggested the possibility of FXTAS. Both probands were found to carry FMR1; premutations. In Family 1, the diagnosis of FXS was established in a grandson of the proband, and the full mutation was also identified in several of her daughters and granddaughters, all presenting with learning difficulties. In Family 2, no full mutations were detected; a proband\'s grandson had size mosaicism for FMR1; ; alleles, carrying an intermediate allele and a premutation. Although uncommon, possibly due to lack of knowledge about the syndrome, the diagnosis of FXTAS in families without FXS is important for genetic counseling, particularly regarding the occurrence of intellectual disability

Orientador: Paulo Dalgalarrondo / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-19T03:00:44Z (GMT). No. of bitstreams: 1 Pegoraro_LuizFernandoLonguim_M.pdf: 2266541 bytes, checksum: 79f7b25b4b175b872cd3d424776438f6 (MD5) Previous issue date: 2011 / Resumo: As síndromes genéticas de Williams (SW), do X-Frágil (SXF) e de Prader-Willi (SPW) apresentam déficit cognitivo geral que varia do grau leve ao moderado. Apesar de compartilharem rebaixamento da inteligência como um todo, prejuízos e potencialidades em habilidades cognitivas específicas dessas síndromes são amplamente descritos na literatura internacional, mas não tão enfaticamente no Brasil. Este estudo teve por objetivo investigar, descrever e comparar o perfil cognitivo de crianças e adolescentes com SW, SXF e SPW. Trinta e quatro crianças e adolescentes de seis a 16 anos, de ambos os sexos, com diagnóstico confirmado para a SW (n = 10), a SXF (n = 13) e a SPW (n = 11), pacientes dos ambulatórios de Psiquiatria da Criança ou Adolescente e/ou Genética Geral II do Hospital de Clínicas (HC) da Unicamp participaram deste estudo. Os sujeitos foram avaliados em suas funções cognitivas por meio da Escala de Inteligência Wechsler para Crianças (WISC-III). Dados sócio-culturais, exames citogenéticos e os sintomas e diagnósticos psiquiátricos associados aos participantes foram coletados nos prontuários médicos e também por meio de entrevistas com os responsáveis por cada criança ou adolescente. O QI total (QIT), o QI verbal (QIV), o QI de execução (QIE) e os escores ponderados de cada subteste da escala WISC-III, assim como os dados pessoais dos sujeitos de pesquisa, foram transpostos para o software estatístico SPSS, versão 17 para Windows. Não foram encontradas diferenças significativas em relação à idade, à classe social e ao tipo de escola que cada participante freqüenta entre as três síndromes. Por outro lado, houve diferença significativa quanto ao gênero dos participantes (p < 0,05). Foram encontradas diferenças significativas em relação ao QIV, aos subtestes verbais Informação, Vocabulário, Compreensão e em relação aos subtestes de execução Cubos e Armar Objetos. O teste post hoc de comparações múltiplas de Dunn (? = 0,05) apontou um escore significativamente superior nos subtestes de linguagem verbal e no QIV para o grupo com SW e um escore significativamente superior nos subtestes visuo-espaciais para o grupo com SPW. Estes resultados dão suporte à noção do perfil cognitivo específico para estas síndromes genéticas, constituído por "picos e vales" de rendimento, apesar do déficit intelectual geral destas condições, contrariando a concepção do fator g em crianças e adolescentes com SW, SXF e SPW / Abstract: Genetic syndromes such as Williams (WS), Fragile X (FXS) and Prader-Willi syndrome (PWS) present general cognitive impairment ranging from mild to moderate. Despite sharing a diminishment of intelligence as a whole, strengths and weakness in specific cognitive abilities of each syndrome are well described in international literature, but not so emphatically in Brazil. This study aimed to investigate, describe and compare the cognitive profile of children and adolescents with WS, FXS and PWS. Thirty-four children and adolescents, aged between 6 and 16, of both genders, with a confirmed diagnosis of either WS (n = 10), FXS (n = 13) or PWS (n = 11), from the outpatient clinics of Child and Adolescent Psychiatry or from the General Genetics II clinic, located at the Hospital das Clinicas (HC), participated in this study. The subjects cognitive functions were evaluated using the Wechsler Intelligence Scale for Children (WISC-III). Socio-cultural, cytogenetic tests and associated psychiatric symptoms and diagnoses were collected from the participants medical records and through interviews with those responsible for each child or adolescent. The Full-Scale IQ (FSIQ), Verbal IQ (VIQ), Performance IQ of (PIQ) and the standard scores of each subtest in the WISC-III scale, as well as the personal data of research subjects, were entered in version 17 of the SPSS statistical software for Windows. No significant differences were found between the three syndromes regarding age, social class or the type of school (private or public) each participant attends. On the other hand, there were significant differences in gender of the participants (p <0.05). Significant differences were found with respect to VIQ, and the verbal subtests Information, Vocabulary and Comprehension, and also in relation to the performance subtests Block Design and Object Assembly. The Dunn's multiple comparison test showed a significantly higher score on the verbal subtests and VIQ for the group with WS and a significantly higher score on the visuospatial subtests for the group with PWS. These results support the notion that there are specific cognitive profiles for these genetic syndromes, consisting of "peaks and valleys" in performance, despite the general intellectual deficit of these conditions, contrary to the g factor concept in children and adolescents with WS, FXS and PWS / Mestrado / Saude da Criança e do Adolescente / Mestre em Ciências

Pour des intérêts technologiques, la compréhension des mécanismes de déformation des nano-structures est essentielle afin d'éviter que la relaxation des contraintes ne génère des défauts aux conséquences parfois catastrophiques. De plus, dans les nano-objets semi-conducteurs, les expériences montrent une transition fragile-ductile qui dépend de la taille des systèmes : ils sont ductiles pour des dimensions inférieures à quelques centaines de nanomètres, fragiles au-delà. Nous avons abordé ce problème via des calculs de dynamique moléculaire pour simuler des tests de déformation de nano-fils, et nous avons choisi le silicium comme prototype de matériau semi-conducteur. Nous avons dans un premier temps analysé des grandeurs mesurables comme les coefficients d'élasticité et la limite d'élasticité en fonction de différents paramètres, et montré notamment que la limite d'élasticité diminue quand la hauteur du nano-fil augmente. L'analyse à l'échelle atomique des systèmes déformés nous a permis de décomposer le comportement global des nano-fils en mécanismes élémentaires ; nous avons ainsi montré que la nucléation d'une première dislocation est à l'origine de l'ensemble des comportements, ductiles et fragiles. Après cette nucléation initiale, le comportement global du nano-fil est déterminé par la compétition entre la nucléation d'autres dislocations et l'ouverture de cavités. Finalement, nous avons essayé d'estimer quantitativement les degrés de ductilité et de fragilité des nano-fils en analysant l'énergie relaxée pendant le régime plastique par ces deux mécanismes élémentaires, et de rationaliser ainsi le rôle de la taille du système sur la transition fragile-ductile. / For technological interest, the understanding of the deformation mechanisms at the nano-scale is essential in order to prevent stress relaxation mechanisms that could lead to defects formation and/or to catastrophic failure. Furthermore, recent experimental findings showed in semiconductor nano-objects, a size dependent brittle to ductile transition: they are ductile below a few hundreds of nanometers, brittle above that scale. To investigate this behavior, we have used molecular dynamics as a tool to simulate deformation tests of nanowires and we have used silicon as a prototypical semiconductor material. First we analyzed a number of measurable quantities such as the elasticity coefficients and the elasticity limit with respect to various parameters and we found that the elasticity limit decreases when the length of the nanowire increases. An analysis of the atomic structure of the deformed systems allowed us to decompose the overall mechanical behavior of the nanowires into elementary mechanisms; we thus showed that the nucleation of a first dislocation was systematically at the origin of ductility and brittleness. After the initial dislocation nucleation, the competition between further dislocation nucleation events and cavities opening, determine the overall mechanical behavior of the nanowire. Finally, we tried to estimate quantitatively the degree of ductility and brittleness of the nanowires by analyzing the amount of energy released by those two elementary mechanisms during the plastic regime and we rationalized the role of the size of the deformed systems on the brittle to ductile transition.

Le problème initial traité dans cette thèse relève du cadre général de la modélisation des tunnels profonds. Pour cela, on a adopté l'approche basée sur la mécanique linéaire de la rupture. L'étude s'est appuyée sur le critère mixte de Leguillon. Suite à cette étude, on a pu tirer que ce n'est pas le critère mixte qui est insuffisant mais plutôt la façon d'aborder le problème. D'où le passage à la prise en compte de l'hétérogénéité du matériau constitutif et la possibilité d'amorçage d'une fissure sous une contrainte de compression. Une première approche a été entreprise par l'étude d'une bicouche périodique sous contrainte de compression verticale. La couche de grande raideur s'est apparue le siège d'une traction transversale. Effectivement la possibilité d'amorçage d'une fissure est tout à fait probable grâce toujours à la vérification des critères d'énergie et de contrainte. Une deuxième approche consistait à observer au plus près la microstructure du matériau ; on a considéré le problème d'une inclusion elliptique dans une matrice infinie. Par la méthode des variables complexes et la technique de la transformation conforme, on a analysé le champ de contrainte autour de l'inclusion et on a mis en évidence la présence d'une traction qui dépend fortement des paramètres choisis. Par la méthode des éléments finis étendus, on a calculé la variation de l'énergie potentielle mise en jeu par la création d'une fissure. Par une démarche semblable à l'approche précédente, à savoir la vérification des critères d'énergie et de contrainte, on a conclu à la possibilité d'amorçage d'une fissure. Mots clefs : mécanique linéaire de la rupture, critère mixte de Leguillon, énergie potentielle, taux de restitution d'énergie, méthode des éléments finis étendus, bicouche périodique, méthode des variables complexes / The initial problem treated in this thesis falls within the general framework of modeling deep tunnels. For this reason, the approach based on linear fracture mechanics was adopted. The study was based on the mixed criterion of Leguillon. Following This study, the mixed criterion was not insufficient but the way to approach the problem was. Where the transition to the consideration of the heterogeneity of the material component and the possibility of initing a crack under a compressive stress. A first approach was undertaken the study of periodic bilayer under the stress of vertical compression. The layer of the highest stiffness has appeared the seat of a transverse traction. Indeed the possibility to initiate a crack is quite likely always through the verification of the energy and the stress criteria. A second approach was to observe more closer the microstructure of the material; we have considered the problem of elliptic inclusion in an infinite matrix. By the method of complex variables and the technique of conformal mapping, we analyzed the stress field around the inclusion and were revealed the presence of a traction which depends strongly of the selected parameters. By the extended finite element method, we calculated the variation of the potential energy involved by creating a fracture. In a similar approach to the previous one, namely verification of the energy and the stress criteria, we concluded the possibility of initiating a crack. Keywords: linear fracture mechanics, mixed criterion of Leguillon, potential energy, energy release rate, extended finite element method, periodic bilayer, method of complex variables

Technological advances during the past 30 years have dramatically improved survival rates for children with life-threatening conditions (preterm births, congenital anomalies, disease, or injury) resulting in children with special health care needs (CSHCN), children who have or are at increased risk for a chronic physical, developmental, behavioral, or emotional condition and who require health and related services beyond that required by children generally. There are approximately 10.2 million of these children in the United States or one in five households with a child with special health care needs. Care for these children is limited to home care, medical day care (Prescribed Pediatric Extended Care; P-PEC) or a long term care (LTC) facility. There is very limited research examining health outcomes of CSHCN and their families. The purpose of this research was to compare the effects of home care settings, P-PEC settings, and LTC settings on child health and functioning, family health and function, and health care service use of families with CSHCN. Eighty four CSHCN ages 2 to 21 years having a medically fragile or complex medical condition that required continual monitoring were enrolled with their parents/guardians. Interviews were conducted monthly for five months using the PedsQL TM Generic Core Module for child health and functioning, PedsQL TM Family Impact Module for family health and functioning, and Access to Care from the NS-CSHCN survey for health care services. Descriptive statistics, chi square, and ANCOVA were conducted to determine differences across care settings. Children in the P-PEC settings had a highest health care quality of life (HRQL) overall including physical and psychosocial functioning. Parents/guardians with CSHCN in LTC had the highest HRQL including having time and energy for a social life and employment. Parents/guardians with CSHCN in home care settings had the poorest HRQL including physical and psychosocial functioning with cognitive difficulties, difficulties with worry, communication, and daily activities. They had the fewest hours of employment and the most hours providing direct care for their children. Overall health care service use was the same across the care settings.

Les modèles de comportement mécanique, dits macroscopiques, sont développés à la fois pour leur légèreté, permettant le calcul d’éléments structuraux pouvant atteindre d’importantes dimensions, et pour leur finesse de représentation des phénomènes mécaniques observés par le matériau à des échelles plus fines. Le développement de tels modèles est ici effectué dans le cadre de la sollicitation sismique, donc des chargements cycliques alternés, appliquée à des ouvrages en matériaux quasi-fragiles, et plus précisément en béton. À ce jour, les modèles macroscopiques, effectivement applicables au calcul de structures, et représentatifs du comportement cyclique du béton sont encore rares. En conséquence de la complexité du problème de fissuration à homogénéiser, les modèles macroscopiques existants affichent une robustesse limitée ou ne permettent pas de reproduire l’ensemble des phénomènes mécaniques observés par le matériau. Une des barrières à la résolution de ces deux problématiques est le manque de données expérimentales relatives aux phénomènes à modéliser. En effet, en cause de la difficulté technique de les réaliser, peu de résultats d’essais cycliques alternés sur du béton sont disponibles dans la littérature.&#8232; Une démarche d’expérimentation numérique a donc été élaborée sur la base d’un modèle fin du matériau, dit microscopique, capable de fournir les résultats nécessaires à la formulation et à l’identification d’un modèle macroscopique. Dans le modèle microscopique le matériau est considéré comme une structure à part entière, il a été développé afin de ne nécessiter qu’une quantité réduite de résultats d’essais, maîtrisés, pour être mis en oeuvre. Le modèle microscopique, un modèle particulaire lattice, a été développé sur la base d’un modèle lattice existant, enrichi pour être en mesure de simuler le comportement des matériaux quasi-fragiles sous chargements multi-axiaux et cycliques. Le modèle microscopique a alors été validé en tant qu’outil d’expérimentation numérique, et exploité afin d’établir les équations constitutives du modèle macroscopique fondées sur les théories de l’endommagement et de la plasticité. La régularité de la relation de comportement proposée, intégrant un effet unilatéral progressif, a notamment été garantie par l’utilisation d’un modèle d’élasticité non-linéaire. Le modèle macroscopique a finalement été calibré, entièrement, à l’aide du modèle microscopique, et mis à l’oeuvre dans la simulation de la réponse d’un voile en béton armé soumis à un chargement de cisaillement cyclique alterné. Cette simulation a permis de mettre en avant la robustesse numérique du modèle développé, ainsi que la contribution significative du comportement uni-axial cyclique alterné du béton à l’amortissement de telles structures. / Macroscopic mechanical behavior models are developed for their light computational costs, allowing the simulation of large structural elements, and the precise description of mechanical phenomena observed by the material at lower scales. Such constitutive models are here developed in the seismic solicitation framework, therefore implying cyclic alternate loadings at the material scale, and applied to civil engineering buildings, often made of concrete, or more generally of quasi-brittle materials. To date, macroscopic models applicable to structural computations, while representing the cyclic mechanical behavior are rare. In consequence of the intricacy of the fracture processes to homogenize, macroscopic constitutive models either do not present sufficient robustness or miss on important phenomena. One of the limitations to the resolution of this issue is the lack of experimental data. Indeed, because of the complexity of the experiments to set up, few results on alternate cyclic tests on concrete are available in the literature.A virtual testing approach has therefore been established on a microscopic model of the material, able to provide results needed to the formulation and the calibration of a macroscopic model. In the microscopic model, the material is considered as structure itself, it is developed so as to only necessitate a reduced amount of results from controlled experimental tests, in order to be used. The microscopic model, a lattice discrete element model, has been developed on the basis of an existing lattice model and extended to the simulation of multi-axial and cyclic loadings. The microscopic model has then been validated as a virtual testing tool and used to establish equations of the macroscopic model, on the basis of damage and plasticity theories. The consistency of the proposed constitutive relation, embedding progressive unilateral effect, has been achieved using non-linear elasticity. The macroscopic model has finally been calibrated, entirely with the microscopic model, and employed to simulate the response of a reinforced concrete wall under alternate shear loading. This simulation has served to showcase the numerical robustness of the proposed model, as well as the significant contribution of the uni-axial alternate behavior of concrete to the structural damping of such structures.

Le développement d’outils prédictifs qui relient l’échelle microscopique à l’échelle macroscopique dans le cadre de la rupture fragile est le défi majeur de cette thése. Dans le cas d’une fissure plane se propageant de façon quasistatique, en mode I, dans un matériau faiblement hétérogène et invariant dans la direction de propagation, on peut montrer à l’aide d’une approche perturbative utilisant les fonctions de poids, que le seuil de rupture de Griffith est toujours atteint en tout point du front et que par conséquent la ténacité effective est simplement égale à la moyenne des valeurs locales. Nous abordons ici le même problème mais avec des hétérogénéités de ténaciteé plus élevées. Dans la première partie, nous considérons une fissure semi-infinie dans un corps infini ou dans une plaque d’épaisseur finie et nous étendons analytiquement l’approche du premier au second ordre. Nous montrons que, même si le critère de Griffith est atteint partout, les déformations du front peuvent induire une déviation de la ténacité efficace de sa valeur moyenne. Nous effectuoès de plus des expériences de peeling afin de préciser le domaine de validité des approches. Dans la deuxième partie, nous considérons une fissure circulaire se propageant dans un motif de ténacité axisymétrique et résolvons le problème numériquement, quelquesoit le contraste de ténacité et la taille des hétéogénéités, en itérant sur les formules du premier ordre. Pour un contraste d’hétérogénéité suffisamment grand, le critére de la Griffith ne peut plus être atteint partout: certains points du front sont piégés par les zones plus tenaces, tandis que d’autres parties avancent indéfiniment. De ce fait, la ténacité diminue avec la taille et le contraste, à partir de sa valeur moyenne locale jusqu à son minimum. / The development of predictive tools that bridge microscopic to macroscopic scales in brittle fracture is the key challenge of this thesis. In the context of quasi-static planar crack propagation under mode I loading, it has been shown, using first-order weight-function perturbation approaches that, for weak heterogeneities, when the material is homogeneous in the propagation direction, the Griffith’s threshold is always reached for all points of the crack front so that the effective toughness is simply equal to the average of the local toughness. Here, we address the same problem but with stronger toughness heterogeneities. In the first part, we consider a half-plane crack embedded in an infinite body or in a finite thickness plate and we extend analytically the first-order approaches to the second-order. We show that even if Griffith’s criterion is reached all over the front, the deformations of the front may induce some second-order deviation of the effective toughness from its mean value. We also perform peeling experiments that define their range of applicability. In the second part, we consider a circular crack propagating in an axisymmetric toughness map and solved the problem numerically, for any toughness contrast and heterogeneity size, by iterating the first-order formulas. For large enough heterogeneity contrast, the Griffith’s criterion can no more be reached everywhere: some points of the front are pinned by strong impurities, while some other parts advances continuously. Correspondingly, the effective toughness is shown to decrease with size and strength of heterogeneity from the average value of the local toughness down to its minimum one.