Submitted by William Justo Figueiro (williamjf) on 2015-07-18T12:01:27Z No. of bitstreams: 1 39c.pdf: 875476 bytes, checksum: 8a8b6c4934cfff87a473a3b3a24ea27c (MD5) / Made available in DSpace on 2015-07-18T12:01:27Z (GMT). No. of bitstreams: 1 39c.pdf: 875476 bytes, checksum: 8a8b6c4934cfff87a473a3b3a24ea27c (MD5) Previous issue date: 2013 / UNISINOS - Universidade do Vale do Rio dos Sinos / Trata-se de um estudo transversal para investigar a relação entre transtornos psiquiátricos menores e sintomas do climatério, bem como os fatores associados, em 615 mulheres, de 40 aos 65 anos, atendidas em um ambulatório de climatério e cirurgia ginecológica do sistema público de saúde no sul do Brasil. Avaliou-se Transtornos Psiquiátricos Menores (TPM) pelo Self Reporting Questionnaire (SRQ-20) e Sintomas do climatério pelo Menopause Rating Scale (MRS). Criou-se um escore para sintomas do climatério e categorizado em 3 níveis de sintomas: nenhum/leves; moderados; e altos/muito altos. Foram calculadas as razões de chances brutas e ajustadas, com seus respectivos intervalos de confiança de 95%, utilizandose Regressão Logística Ordinal. A prevalência de sintomas do climatério nenhum/ leves foi de 34,1% (IC 95% 30,3-37,9); moderados 29,6% (IC 95% 25,8-33,1) e altos/ muito altos 36,3% (IC 95% 32,4-40,0). A prevalência de TPM foi de 66,6% (IC 95% 62,8-70,3). Após ajuste, mulheres acima de 50 anos, com companheiro, de menor escolaridade, fumantes, com maior número de gestações durante a vida reprodutiva, obesas, em uso de medicação psicotrópica e que estavam na pós-menopausa apresentaram maior chance de ter sintomas do climatério. Apresentar TPM esteve associado a uma chance cerca de 8 vezes maior para sintomas do climatério, quando comparadas com aquelas mulheres sem estes transtornos. Os TPM estão fortemente associados à presença de sintomas do climatério, independente de fatores sociodemográficos, comportamentais, reprodutivos e uso de medicação psicotrópica. / This paper is about a cross-sectional study which aimed to investigate the relationship between minor psychiatric disorders and climacteric symptoms as well as the associated factors in 615 women, aged from 40 to 65 years, assisted at an outpatient climacterium and gynecological surgery clinic of the public health system in the south of Brazil. Minor Psychiatric Disorders were evaluated by Self-Reporting Questionnaire (SRQ-20) and the symptoms of menopause by Menopause Rating Scale (MRS). A score for climacteric symptoms was created and categorized in 3 levels of symptoms: none / mild, moderate, and high / very high. The unadjusted and adjusted hazard ratios were calculated with their respective confidence intervals of 95%, using Ordinal Logistic Regression. The prevalence of climacteric symptoms none / mild was 34.1% (95% CI 30.3 to 37.9), moderate 29.6% (95% CI 25.8 to 33.1) and high / very high 36.3% (95% CI 32.4 to 40.0). The prevalence of minor psychiatric disorders was 66.6% (95% CI 62.8 to 70.3). After adjustment, women over 50 years old with a partner, less educated, smokers, with more pregnancies during reproductive life, overweight, on medication for nerves and who were in their postmenopausal had a higher occurrence of climacteric symptoms. Minor psychiatric disorders led to 8 times higher chance for climacteric symptoms compared with those without these disorders. The minor psychiatric disorders are strongly associated with the presence of climacteric symptoms, independent of sociodemographic, behavioral, reproductive factors, and the use of psychotropic medication.

This text will take you on a journey to the Far East – Bangladesh to be more specific. Inspring 2008 I went there to find some answers to the question of wages. I wanted to know if achange in focus from minimum wages to living wages could be achievable. The question willunfortunately remain unsolved at the end of the essay. To predict the future would beimpossible. Instead three possible scenarios are presented. The likelihood of each and everyscenario is later discussed. The conclusions at the end of the essay are based on an analysis ofthe theories presented and the interviews proceeded.The starting point for the research is the relocation strategies of corporations, which areoutlined in the background chapter. This chapter also contains information about the garmentindustry in Bangladesh. The main research question is if there can be a shift from minimumwages to living wages in Bangladesh. In order to bring clarity to the question, three subquestions have been used. The first question looks into how wages are determined in theexport-oriented garment industry in Bangladesh. The second question concerns thecorporations’ responsibility for their workers. The third, and last, question addresses howcultural dimensions influence the corporations and how wages are set. To find the answers tothe sub questions I divided the research into four main topics: “Wages – Minimum and LivingWages”, “Morality, Ethics and Business Ethics”, “Employees as Stakeholders of theCompanies” and “The Cultural Dimension”. The topics are dealt with in separate chapters.The chapters contain a theoretical overview, as well as the information gathered from theinterviews.The chapters are followed by a further analysis of the empirical findings. The chapter onwages contains an in-depth explanation of the difference between minimum wages and livingwages. In the conducted study all workers were paid the minimum wage in coherence with thelaw. This wage was however much lower than what the definition of a living wage declares.Therefore many workers did over-time in order to reach a higher standard of living. Businessethics and the stakeholder theory will be used to discuss the opportunities and limitations ofthe responsibility of the corporations for their workers. The scholar Hofstede’s system ofmeasuring national cultural values will be used to look into specific cultural aspects.According to his system, Bangladesh has a high ranking in power distance, a low ranking inindividualism and a middle ranking in masculinity. These three dimensions will be discussed;both correlations and exceptions found in this study will be presented.The three possible scenarios for a change are presented in the conclusions. Firstly, theminimum wages could be changed into living wages, if the government decides on raising thewages of the garment workers. Secondly, the mentality amongst management could provide asolution to the change in focus. If managers could find advantages in paying their workersmore, it would open up for a brand new wage system. Thirdly, changes could come from theworkers themselves, through unification in the regard. This has however been valued as lesslikely to happen, because of the power distance prevailing in the country. / Program: Textilekonomutbildningen

A criança autora de ato infracional - as medidas de proteção e o Conselho Tutelar - um debate para o campo psicanalítico. Dissertação de Mestrado, Instituto de Psicologia, Universidade de São Paulo, São Paulo. Este trabalho tem como objetivo abordar a temática da criança autora de ato infracional e a aplicação das medidas de proteção pelos Conselhos Tutelares de São Paulo-SP e, com isso, trazer contribuições para a aplicação destas medidas. Para que se possa apreender o contexto atual de sua aplicação, do surgimento dos Conselhos Tutelares e da situação da criança autora de ato infracional, faz-se um levantamento histórico sobre o assunto. Em seguida, apresenta um levantamento teórico, dentro do panorama jurídico, sobre os conceitos de ato infracional e as medidas socioeducativas e de proteção aplicadas pela justiça e pelo Conselho Tutelar, respectivamente, nestes casos. A pesquisa qualitativa de campo é o cerne deste trabalho. A escuta dos conselheiros tutelares, tendo como objetivo conhecer suas experiências no atendimento e encaminhamento destes casos, articula-se a uma série de problemáticas como a atribuição ou não de ato infracional praticado por criança, o entendimento das medidas de proteção como garantistas ou restritivas de direitos e a questão da competência nestas situações. Para concluir a primeira parte do trabalho, estas questões são desenvolvidas, onde se extrai a hipótese da pesquisa: qual o lugar da criança autora de ato infracional sob medidas de proteção?. Por meio deste questionamento, conjectura tratar-se da criança que está entre a garantia e a restrição de direitos, em que se forja a noção do fora-do-lugar. Encaminha-se uma articulação conceitual acerca dos lugares de discurso em psicanálise, elucida os lugares da criança enquanto sujeito nos quatro discursos propostos por Jacques Lacan e a concepção de infantil. Por fim, aborda a criança autora de ato infracional sob medidas de proteção por meio dos argumentos teóricos do discurso do capitalista e da noção de lei simbólica em psicanálise / This paper aims at discussing the matter of child offender and the application of protective measures by child protection authorities in São Paulo-SP and, with that, aims to bring contributions for the implementation of these measures. To apprehend the current context of these measures, the emergence of child protection authorities and child offenders situation, makes a historical survey on the subject. Further, it presents a theoretical research within legal landscape on the concepts of act of infraction, socioeducational measures and protection applied by justice and child protection authorities, respectively, in these cases. Qualitative research field is the core of this work. Listening child protective authorities, aiming to understand their experiences in care and management on these cases, articulates a number of questions such as attribution or not of act of infraction committed by children, the understanding of protection measures as guarantees or restriction of the rights and the matter of competence in these situations. To conclude the first part of the work, these questions are developed, in which it extracts the research hypothesis: what is the place of child offender under protective measures?. Through this questioning, conjecture that it is the child who is between the guarantee and the restriction of rights, which forges the notion of \"out-of-place\". Forward to a conceptual articulation about places of discourse in psychoanalysis, clarifies childs places as a subject in the four discourses proposed by Jacques Lacan and the child conception. Finally, discusses child offender under protective measures through the theoretical arguments of the capitalist discourse and the notion of symbolic law in psychoanalysis

L'action de l'Union européenne dans le cadre de l'espace de liberté, de sécurité et de justice témoigne depuis le début des années 2000, d'une attention croissante pour le mineur. C'est une évolution justifiée sans doute par des changements, en Europe, quant à la place du mineur dans la société et dans les migrations internationales. Ces changements affectent l'ensemble des matières abordées (asile, immigration, franchissement des frontières, matière civile et matière pénale). On assiste, par exemple, à la présence importante de mineurs non accompagnés dans les flux migratoires ou bien à la revendication d'une hausse de la délinquance juvénile. Or, si le mineur doit jouir des mêmes droits que tout individu, il doit également bénéficier d'un traitement particulier pour respecter à la fois son autonomie et sa vulnérabilité. L'étude s'interroge donc sur l'aptitude du droit de l'espace de liberté, de sécurité et de justice à accorder une singularisation et une protection suffisantes au mineur. Pour cela, l'analyse s'intéresse aux interactions normatives au sein de cet espace (normes nationales, internationales et européennes) qui permettront de souligner les améliorations et les défaillances du droit de l'Union. / The action of the European Union in the area of freedom, security and justice, testifies, since the beginning of 2000s, of an increasing interest for the minor. This is an evolution justified doubtless by changes, in Europe, about the position of the minor in society and in international migrations. These changes affect all the addressed matters (asylum, immigration, crossing of borders, civil law and penal law). We see, for example, a lot of unaccompanied minors in the migrations or the claiming of an increase of juvenile delinquency. Yet, if the minor must enjoy the same rights as every person, he must also benefit from a specific treatment to respect his autonomy and his vulnerability. This study wonders about the ability of the law of the area of freedom, security and justice, to grant to the minor a sufficient singularization and protection. For that, the analysis is interested in the normative interactions in this area (national, international and european norms) which will allow to underline improvements and faults of the EU law.

Notre étude porte sur les monuments publics réalisés en Asie Mineure sous les Flaviens (69/96 ap. J.-C.). Nos recherches ont permis de réfléchir sur le rôle des différents intervenants impliqués dans les projets et à mettre en lumière les traces de leur activité. Bien que rares, les sources textuelles, comme les dédicaces, apportent de nombreuses informations sur les évèrgètes et nous offrent parfois certains détails sur les coopérations entre les commanditaires, les épimélètes et l’administration impériale. L’étude détaillée des éléments architectoniques,en révélant des tours de mains, nous a permis d’aborder la question des structures des ateliers micrasiatiques et de proposer, pour certains, leur parcours sur les différents chantiers du dernier quart du 1e s. ap. J.-C. Cette étude s’est associée à celle des techniques de réalisation des blocs, mettant en évidence l’effort conséquent de standardisation mis en place en Asie Mineure, et plus particulièrement à Ephèse sous Domitien. Nous nous sommes également penché sur la question de la réception et de la diffusion des modèles de décor et avons mis en évidence l’influence contrastée de Rome sur les créations flaviennes micrasiatiques, en raison de la présence de traditions culturelles fortes dans cette région. Ainsi, des créations endogènes, certes limitées, montrent que des artisans locaux ont été capables d’innover, bien souvent en reformulant d’anciens modèles hellénistiques.Enfin nos recherches ont conduit à mettre en évidence l’attrait tout particulier des monuments des eaux en Asie Mineure, à travers les nombreuses réalisations balnéaires sous Vespasien en Lycie ou l’élaboration de fontaines monumentales dans la province d’Asie sous Domitien. / Our study handles the question of public buildings built in Asia Minor during the flavian Period (69/96 A.D.).Our researches led us to have a reflection about the different people intervening in the projects and to showsome traces of their activity. Even if they are rare, the textual sources, such as dedications, bring manyinformations about the evergetes, and offer some details on the cooperation between the patrons, the curatorsand the imperial administration. The detailed study of the architectural elements, revealing some productionskills, allowed us to have a reflection about the structure of workshops in Asia Minor and led us to offer, insome case, a view of their course between different buildings sites of the end of the first century A.D. Thisstudy naturally got associated with others handling the question of block construction, showing the importanteffort developed to achieve standardisation in Asia Minor, and more specifically at Ephesus under Domitian.We also studied the reception and spreading of setting models and showed the contrasted influence of Rome onthe flavian creations in Anatolia, because of the presence of strong cultural traditions in this country. Thus,limited endogenous creations show that local craftsmen were able to innovate, often using basis of ancienthellenistics models. Finally our study lead us to enhance the particular attraction for water buildings in AsiaMinor, through the many bathing facilities built under Vespasian in Lycia or the development of monumentalfountains in Asia under Domitian.

Made available in DSpace on 2016-12-23T14:20:37Z (GMT). No. of bitstreams: 1 Maria da Penha dos Santos - capitulo 1.pdf: 1591289 bytes, checksum: a63ddb16bdf312cd9a6750a0a7f1e13e (MD5) Previous issue date: 2013-08-30 / The certainty of the existence of various possibilities of presenting a place, the purpose of this work is the search for ways to express other geographical ways of thinking the being in the world. From the photographic language and poetry, our proposal is to deterritorialise the hegemonic visual discourse, using the minor literature, from the perspective of Deleuze and Guattari. In our study, we focused on the Grande Terra Vermelha region, in Vila Velha City/ES . This region is presented as a place where, since its origin, has been highlighted as violent due to the large number of murders committed in the region. Based on post-structuralist presuppositions, this experiment intends to show that there are other possible versions, especially those that occur through the poetic fables. In other words, the idea is to promote a representation beyond the commonplace, deterritorializing and blurring the standard image / Certos de que há várias possibilidades de se apresentar um lugar, o propósito deste trabalho é buscar por meios para expressar outras formas geográficas de se pensar estar no mundo. A partir da linguagem fotográfica e da poesia, a nossa proposta que consiste em desterritorializar o discurso visual hegemônico, utilizando a literatura menor, na perspectiva de Deleuze e Guattari. Em nosso estudo tomamos como foco a Região da Grande Terra Vermelha em Vila Velha/ES . Apresentamos um lugar que, desde a sua origem, vem sendo destacado como violento em função do grande número de homicídios praticado na região e isso passou a se configurar como a única forma de se referir àquele lugar. Com base nos pressupostos pós-estruturalistas esse experimento tem a intenção de mostrar que há outras versões possíveis, principalmente àquelas que se dão por meio das fabulações poéticas. Ou seja, a ideia é promover uma grafia para além desse lugar comum, desterritorializando e rasurando a imagem padronizada

Dans le cadre des recherches sur l'aval du cycle du combustible et des projets de transmutation de l'américium, un procédé innovant de fabrication de Couvertures Chargées en Américium (CCAm) a été développé. Ce procédé, intitulé CRMP (Calcined Resin Microsphere Pelletization), vise la fabrication de pastilles d'oxyde mixte uranium-américium par une voie non conventionnelle de métallurgie des sphérules. Il consiste à produire des pastilles par pressage et frittage de précurseurs d'oxyde sous la forme de microsphères millimétriques obtenues par minéralisation de perles de résines échangeuses d'ions chargées en cations uranium et américium. L'avantage d'un tel procédé par rapport à la métallurgie conventionnelle des poudres est de s'affranchir de la problématique des fines particules disséminantes et contaminantes et de faciliter les opérations de transfert de matière lors de la phase de mise en forme. Le procédé a d'abord été optimisé et validé pour la production de pastilles d'oxyde de cérium. Des pastilles d'oxyde d'uranium de microstructure contrôlée, dense ou poreuse, ont ensuite été produites dans le but de répondre aux spécifications envisagées pour les CCAm. Dans une troisième phase, le procédé a été appliqué avec succès à la synthèse de microsphères d'oxydes mixtes monophasés de type U1-xCexO2±δ (0,1≤x≤0,3) qui ont servi à l'élaboration de pastilles de céramiques d'oxydes mixtes. La faisabilité technique du procédé CRMP a été finalement validée à l'échelle d'une pastille U0,9Am0,1O2±δ de microstructure homogène et de densité égale à 95 % de la densité théorique. / In the framework of research on the back-end of the nuclear fuel cycle, and notably projects on transmutation of americium (Am), an innovative manufacturing process of Minor Actinides Bearing Blanket (MABB) has been developed.This process, called CRMP (Calcined Resin Microsphere Pelletization), consists in the production of mixed uranium-americium oxide pellets by a non-conventional route involving microspheres. Pellets are produced by pressing and sintering oxide precursors in the form of millimetric beads obtained by mineralization of ion exchange resin loaded with uranium and americium cations. The advantage of such a process compared to conventional powder metallurgy is to overcome the problem of the handling of very fine powders.The method was first validated and optimized for the production of ceria pellets. Then uranium dioxide pellets with tailored microstructure (dense or porous) were produced in order to reach the required specifications for MABB. In a third phase, the process has been applied to the synthesis of single-phase mixed oxide microspheres composed of U1-xCexO2±δ (0.1 ≤ x ≤ 0.3) and U0;9Am0.1O2±δ. The technical feasibility of CRMP process has been validated for the production of dense mixed oxide pellets by pressing and sintering these microspheres. A U0, 9Am0,1O2±δ pellet with homogeneous microstructure with a density equals to 95 % of theoretical density was successfully produced using CRMP process.

Submitted by admin tede (tede@pucgoias.edu.br) on 2018-04-16T14:44:26Z No. of bitstreams: 1 LUCIANO MÁRCIO GONÇALVES.pdf: 3005310 bytes, checksum: 7d1be9bcd38cb0cafb463dfeca2dc4d4 (MD5) / Made available in DSpace on 2018-04-16T14:44:26Z (GMT). No. of bitstreams: 1 LUCIANO MÁRCIO GONÇALVES.pdf: 3005310 bytes, checksum: 7d1be9bcd38cb0cafb463dfeca2dc4d4 (MD5) Previous issue date: 2018-03-12 / Public security today has been the focus of debate in the most diverse nuclei of knowledge. The involvement of young people in crime, in the same way, becomes an increasingly recurring subject in the field of political, economic, social and legal sciences. This is a problem of social interest and requires attention of all. The units of hospitalization of juvenile offenders in Goiás are analyzed. The relationship between the geographic disposition of Cases in Goiás and the need for local demand is investigated. It is pointed out the difficulties related to the distance of the Cases in relation to the locality of the infractional practice, committing to the maintenance of the affective ties of the offender with the family. It is shown the importance of understanding the need for changes, inserting new proposals for intervention and restructuring the geographic distribution of the socio-educational system of minors in Goiás. A bibliographic research, associated with a field study, is applied. interviews directed to 4 sample subjects, it is observed that there is a disregard of the state authorities regarding the implementation of the Sinase Care Center, evidencing a dissociation between the local reality and the protective legislation. It is concluded that there is a need for the implementation of planned strategic actions, re-adjusting the geographic arrangement of the Socio-educational Assistance Centers in Goiás. / A segurança pública, atualmente, tem sido foco de debate nos mais diversos núcleos do conhecimento. O envolvimento de jovens na criminalidade, da mesma forma, tornase assunto cada vez mais recorrente no campo das ciências políticas, econômicas, sociais e jurídicas. Trata-se de uma problemática de interesse social e que requer atenção de todos. Analisa-se as unidades de internação de menores infratores em Goiás. Investiga-se a relação entre a disposição geográfica dos Cases em Goiás e a necessidade de demanda local. Aponta-se as dificuldades relacionadas à distância dos Cases em relação à localidade da prática infracional, comprometendo à manutenção dos vínculos afetivos do infrator com a família. Mostra-se a importância de se compreender a necessidade de mudanças, inserindo novas propostas de intervenção e reestruturação da distribuição geográfica do sistema de atendimento socioeducativo de menores em Goiás. Realiza-se uma pesquisa bibliográfica, associada com um estudo de campo, com aplicação de entrevistas direcionadas a 4 sujeitos de amostra, observa-se que há um descaso das autoridades estatais, quanto à implantação do Centro de Atendimento Sinase, evidenciando-se uma dissociação entre a realidade local e a legislação protetora. Conclui-se que existe a necessidade de implementação de ações estratégicas planejadas, readequando a disposição geográfica dos Centros de Atendimento Socioeducativos em Goiás.

Ce travail aborde les rites et les monuments funéraires grecs au travers de toutes les sources iconographiques et écrites les plus pertinentes pour ce faire (vases, stèles, peintures, lois, épigrammes, littérature, etc.), datées avant tout des périodes classique et hellénistique. L’intérêt est de respecter le fonctionnement distinct de ces sources, pour ne pas que l’une constitue le faire-valoir ou la simple illustration de l’autre, et de dégager tous leurs apports. S’il s’agit avant tout d’un travail d’Histoire de l’art, fondé sur les sources qui servent notre propos, des exemples archéologiques supplémentaires émaillent également cette étude, de sorte à renforcer celle-ci, mais également à donner une meilleure vision au lecteur. Basée sur un système comparatif également, cette étude prend en compte la zone du monde grec antique répartie entre la Grèce propre, Macédoine comprise, l’Asie Mineure et, dans une moindre mesure, l’Italie du Sud. La thèse se divise en trois parties. La première se concentre avant tout sur les rites, du point de vue des vivants qui les pratiquent. La deuxième est orientée davantage sur la figure du défunt lui-même, ainsi que sur le monument qui marque sa sépulture. Enfin, la dernière partie consiste en une analyse des sources utilisées, de sorte à dégager leurs catégories d’apports et à voir si une certaine vision de la mort les sous-tend. / The present work deals with the Greek funerary rites and monuments via the most relevant iconographic and written sources (vases, stelai, paintings, laws, epigrams, literature, etc.) dating back to the Classical and Hellenistic times. The interest here is to abide by the specific mode of functioning of each source so that one source should not be perceived merely as the sparring-partner of another, and so as to be able to fully appreciate whatever they are bound to convey. Even though we are first and foremost dealing with Art History, relying on the sources that are most likely to serve our purpose, the present essay is also strewn with additional archaeological examples purporting to reinforce its central thesis; it is intent also on presenting the reader with as accurate a vision as possible. Based on a comparative system, the present essay takes into account the area of the Greek world comprising Greece proper, including Macedonia, Asia Minor, and, to a lesser extent, Southern Italy. It divides into three main parts. The first part focuses above all on rites from the standpoint of the living people who perform them. The second part deals more specifically with the figure of the deceased as such, as well as with the monument marking his/her burial-place. The third part consists of an analysis of the sources so as to point out their categories of contributions while examining whether they might or might not be subsumed by a specific vision of death.

Le Syndrome de Taybi-Linder (TALS) est une maladie génétique rare affectant le développement embryonnaire, caractérisée par un nanisme microcéphalique sévère et un décès précoce des patients. Le gène muté dans ce syndrome est RNU4ATAC, qui encode un petit ARN nucléaire (snRNA) non-codant : U4atac. Ce snRNA est l’une des briques composant le spliceosome mineur, une machinerie nucléaire dédiée à l’épissage des introns U12, un groupe d’introns peu étudié car présent dans ~1 % des gènes seulement. Dans le TALS, ces introns sont fréquemment retenus dans les transcrits matures, l’épissage correct des introns U12 semble donc capital pour le développement embryonnaire. L’étude du profil transcriptomique des patients TALS permet ainsi d’établir les conséquences moléculaires d’un dysfonctionnement du spliceosome mineur, nous permettant d’en apprendre davantage sur les mécanismes d’épissage des introns U12 en condition physiologique ou pathologique, et sur le rôle de l’épissage mineur dans le développement embryonnaire. Cette thèse présente la première analyse approfondie du transcriptome de cellules provenant de patients TALS. Pour mener cette analyse, nous avons développé un pipeline bioinformatique qui, à partir de données RNA-seq de seconde génération, utilise différentes méthodes dédiées à l’étude différentielle de l’expression des gènes ou de la qualité d’épissage entre patients et contrôles. L’épissage étant particulièrement complexe à analyser à partir de reads courts, deux approches complémentaires ont été utilisées : l’une classique, basée sur l’alignement des reads, et l’autre plus originale, basée sur l’assemblage des reads et permettant de détecter plus d’événements d’épissage non-annotés (KisSplice). Une des conséquences attendue d’un dysfonctionnement du spliceosome mineur est une rétention massive des introns U12 dans les ARN matures. Cependant, la détection et la quantification de rétentions d’intron chez les mammifères constituent encore aujourd’hui un challenge bioinformatique. Nous avons donc utilisé une méthode récente dédiée à l’analyse des rétentions d’introns pour caractériser le plus précisément possible le profil transcriptomique des patients TALS. J’ai ainsi participé au développement de KisSplice et de notre outil d’analyse statistique des différentielles d’épissage, kissDE, et mis en évidence certaines caractéristiques de l’épissage mineur, que ce soit en condition physiologique ou pathologique / The Taybi-Linder Syndrome (TALS) is a rare genetic disorder of the embryonic development leading to a severe microcephaly, a primordial dwarfism and an early/unexpected death. The mutated gene in this syndrome is RNU4ATAC, which encode a non-coding small nuclear RNA (snRNA) named U4atac, involved in the minor spliceosome. This nuclear machinery is dedicated to the splicing of a small number of particular introns : the U12 introns. Because only about 1 % of the Human’s genes display at least one U12 intron, they have not been extensively study and little is known about their function. In TALS patients’ cells, most of the U12 introns are retained in mature transcripts ; hence, splicing of U12 introns seems important for the embryonic development. Studying TALS patients’ cells transcriptomes both in physiological and pathological conditions should enable us to precisely identify most of the molecular consequences of a minor splicing defect and could shed light on the mechanism linking minor splicing and embryonic development. This thesis is the first work to conduct an in depth analysis of TALS patients’ cells transcriptomes. In order to do a precise analysis, we developed a bioinformatic pipeline that uses multiple methods to detect differentially expressed or spliced genes between patients and controls and from second generation RNA-seq data. Splicing analysis is a very complex task complete with short reads ; hence, we used two complementary approaches. The first one is based on reads alignement to a reference genome, method conventionnally used to work on splicing, and the second one is based on reads assembly (KisSplice), a original method enabling to find more non-annotated splicing events. One of the expected consequences of a minor splicing malfunction is a global U12 introns retention in mature transcripts. However, intron retention detection and quantification in mammals is particulary difficult task in mammals, thus we used a new method dedicated to intron retentions analysis to study the transcriptomic profile of TALS patients. During my thesis, I was one of the developer of KisSplice and kissDE, our differential splicing analysis tool, and I identified important charcteristics of minor splicing either in physiological or pathological conditions