This study is concerned with the nature of suffering as experienced by women struggling with problems related to the body. Since the body is viewed to be integral in the formation of a woman's identity and self-concept, any illness, ailment or deficiency associated with it may lead the woman to experience pain and suffering. To explore meanings of personal suffering related to the body three contexts have been chosen. These are familial breast cancer, eating disorders and infertility. Common themes of suffering that were co-constructed in the interviews between six women participants and myself form the basis of this study. These themes emerged through the process of social constructionism and dialogue. Through the process of language, personal realities and meanings were discussed and shared to elicit a greater understanding of the nature of suffering. A qualitative approach, using the case study method, was also adopted to provide rich descriptions of the different experiences with suffering. The case study presentations illustrate the linguistic domain between the participants and myself. It is hoped that the information presented in this study will contribute to a therapeutic understanding of personal suffering as experienced by women. / Psychology / D. Litt et Phil.

The main aim of this study was to attempt to establish by the use of an environmental specific Personal Growth Programme, whether it is possible to assist students towards a more ‘holistic’ personal formation. It also aimed to investigate whether a move away from traditional education in the form of alternative or parallel programmes, would assist in bringing about an integrated individual, who is more capable of dealing with life as a whole (Krishnamurti 1953). The research was undertaken with adult students between the ages of 21 and 60, at the multi-cultural and extremely diverse residential theological College of the Transfiguration, in Grahamstown in the Eastern Cape Province. An overview of Holistic and Mainstream education was explored in this study, which included also the challenges and influences which each type of education faces. The study then went on to investigate whether it is possible to bridge the gap that exists between holistic and mainstream education using various methods of alternative education. In the qualitative study, the Personal Growth Programme Annual Review Questionnaire was used to obtain feedback from the students to assess the usefulness of the Personal Growth Programme in their journey towards wholeness. This, together with the student’s responses from the in-depth interviews were used to ascertain the study’s limitations, credibility, transferability, dependability and confirmability.

Le phosphate inorganique (Pi) est un minéral essentiel de notre organisme, qui intervient dans la composition des acides nucléiques et des phospholipides, dans la minéralisation des os et des dents, dans la production d’énergie, et dans la régulation des voies de signalisation. L’homéostasie du Pi est étroitement régulée par différents transporteurs, et des anomalies du transport de Pi peuvent avoir des conséquences cliniques sévères. Chez l’homme, ils existent 3 transporteurs de Pi distincts de type SLC (solute carrier) avec une distribution tissulaire large et initialement identifiés en tant que récepteurs de rétrovirus : PiT1/SLC20A1, PiT2/SLC20A2, et XPR1/SLC53A1.Des mutations dans PiT2 sont associées à une maladie rare, la calcification cérébrale primaire familiale (PFBC), caractérisée par des dépôts de phosphate de calcium dans les noyaux gris centraux et par l’expression de troubles neuropsychiatriques. Alors que PiT1 ne semble pas être impliqué dans cette maladie, nous avons découvert que des mutations dans XPR1 étaient présentes chez des patients PFBC, renforçant le lien entre la maladie PFBC et les désordres de l’homéostasie du phosphate.Dans ce travail, nous avons cherché à comprendre comment PiT2 et XPR1, deux transporteurs de Pi mais de flux opposés peuvent conduire à une même maladie. Pour cela, nous avons étudié le lien entre PiT2 et XPR1 dans la régulation du Pi ainsi que les domaines de XPR1 impliqués dans le transport. Nous avons d’abord identifié de nouveaux variants PFBC dans PiT2 et XPR1 et confirmé l'effet délétère de ces mutations sur l’import et l’export. Nous avons pu distinguer des mutations qui abolissaient l’expression en surface de XPR1, et donc indirectement l’export de Pi, alors que d’autres avaient un impact fonctionnel direct sur les transporteurs pourtant présents à la membrane plasmique.L’inactivation de XPR1 dans des cellules haploïdes humaines induit une altération profonde de l’export de Pi sans effet notable sur l’import. De manière surprenante, l’inactivation de PiT2 entraine un effet modéré sur l’import, probablement dû à l'activité complémentaire de PiT1, avec une chute de l’export dépendant de XPR1. Cet effet identifie une boucle de régulation que nous avons montrée être essentielle au maintien des niveaux de phosphate et d’ATP. Ces résultats révèlent que le défaut d’export de phosphate par inactivation de PiT2 et XPR1 est susceptible d’être l’étape-clé qui conduit à une maladie commune, la PFBC.Nous nous sommes concentrés sur cette étape d‘export régulée en étudiant le domaine SPX de XPR1 dans lequel la plupart des mutations PFBC ont été retrouvées. Nous avons identifié la tankyrase (TNK) comme interactant cellulaire, et localisé son site d’interaction à la bordure carboxyle de SPX. Nous avons observé que la délétion de SPX entrainait un défaut d’export de Pi, et que la perte d’interaction de TNK à XPR1 par mutagenèse ponctuelle avait le même effet, suggérant que TNK et SPX sont 2 composants essentiels à l’export de phosphate. Enfin, nous avons identifié de nouvelles mutations de XPR1 à l'extrémité C-terminale qui abolissaient l’export de Pi, et montré que la délétion de ce domaine entrainait un défaut d’expression de XPR1 à la membrane plasmique. Nos résultats indiquent donc que les domaines N- et C-terminaux jouent un rôle clé dans l’export, et donc dans l’homéostasie du phosphate, avec le domaine C-terminal jouant plutôt un rôle dans le trafic en surface de XPR1.L’ensemble de ce travail a permis de documenter de nouvelles mutations PFBC dans les gènes PiT2 et XPR1, de démontrer que ces transporteurs étaient impliqués dans l’homéostasie intracellulaire du phosphate, en dévoilant que l’export de phosphate est vraisemblablement l’étape clé de la PFBC, ouvrant ainsi de nouvelles pistes dans la compréhension de cette maladie. Nous avons également identifié des domaines de XPR1 et un partenaire cellulaire, essentiels à l’export de Pi et/ou au trafic membranaire. / Phosphate (Pi) is a key mineral that participates directly in the synthesis of nucleic acids and membranes, bone and tooth mineralization, energy production, and signal transduction. Pi homeostasis is tightly regulated by transporter-mediated fluxes that adjust Pi concentration in real time, and defect in Pi transport has been associated with several pathologies. In humans, three Pi transporters, which belong to the solute carrier (SLC) superfamily, are widely expressed: PiT1/SLC20A1, PiT2/SLC20A2, and XPR1/SLC53A1. Interestingly, all three were initially identified as receptors for mammalian gammaretroviruses.Mutations in PiT2/SLC20A2 are responsible for a rare neurodegenerative disorder, the primary familial brain calcification (PFBC), characterized by deposits of calcium Pi in the basal ganglia and other regions of the brain, and associated with diverse neuropsychiatric clinical manifestations. While PiT1/SLC20A1 has not been involved in PFBC, we recently identified mutations in XPR1/SLC53A1 as causative for PFBC, thus linking further the disease with cellular Pi homeostasis dysfunction.In this work, we aimed to understand how defects of opposite Pi transport functions lead to PFBC, investigated the relationship between PiT2 and XPR1 in cellular Pi regulation, and studied XPR1 domains in Pi transport. We first identified several PFBC mutations in PiT2/SLC20A2 and XPR1/SLC53A1, and confirmed their impact on Pi import or export, respectively. Some of the mutations altered transporter cell surface expression, resulting in Pi transport impairment, while others did neither alter cell surface expression, nor retroviral receptor functions, confirming that Pi transport function and viral envelope glycoprotein binding can be structurally distinguished.Using single gene knock-out human haploid cells, we showed that depletion of XPR1/SLC53A1 resulted in a dramatic Pi export alteration, with no detectable effect on Pi import, in agreement with Pi exporter function of XPR1. Interestingly, depletion of PiT2/SLC20A2 had little impact on Pi uptake, most likely due to compensatory function of PiT1/SLC20A1, with, however, a surprising impact on Pi export mediated by XPR1. This effect is reminiscent to a regulation loop that we found to maintain both Pi and ATP constant. This results unveil for the first time that Pi export alteration, and not Pi import, is likely to be the common pathophysiological impact of mutations in both PiT2 and XPR1. This would explain the synonymous pathological effects of two transporters that have opposite transport activity.We further explored this regulated phosphate export by characterizing the SPX N-terminal cytoplasmic domain of XPR1, which harbors most of the PFBC mutations. We identified a cellular tankyrase (TNK) as a binding partner and mapped the TNK-binding site to the carboxyl border of SPX; furthermore, we found that mutations that abolished TNK binding resulted in loss of Pi export. Full deletion of SPX domain maintained cell surface expression but altered export, suggesting that both TNK and SPX are essential components for Pi export. Finally, during this work, we identified mutations in the XPR1 C-terminal domain as responsible for PFBC that also impaired Pi export, and showed that deletion of this domain prevented XPR1 cell surface expression. Our results therefore indicate that N- and C-terminal domains of XPR1 play a key role in phosphate homeostasis, the latter domain appearing to exert a more prominent role in XPR1 membrane trafficking and/or folding.

Après la Révolution Verte, qui débuta dans les années 1960, l’agriculture a pris de nouvelles directions grâce à l’introduction de technologies et de pratiques agricoles modernes (modification génétique de semences, usage intensif d’engrais agricoles, mécanisation des coûts d’exploitation) qui ont permis d’intensifier la production et la productivité agricoles. Ce modèle de production s’est formé au sein de l’agriculture conventionnelle. Cependant, après moins d’un siècle de développement, ce modèle d’agriculture a généré un certain nombre de préoccupations quant à son impact sur l’environnement et la santé de la population. En tant qu’alternative à l’agriculture conventionnelle, l’agriculture écologique - qui se présente sous diverses dénominations (organique, agro-écologique, biologique, entre autres) - se distingue en termes de production et de commercialisation dans des systèmes agroalimentaires locaux et globaux. Son développement a été rendu possible grâce à des investissements économiques du fait aussi bien de grandes entreprises agroalimentaires que de petits agriculteurs qui ont converti leurs exploitations à un mode écologique de production. C’est dans ce contexte que l’on observe les motifs d’adhésion des petits agriculteurs à ce type d’agriculture. Nous privilégions dans cette analyse la place que représente la Qualité de Vie (QV) dans le choix de l’agriculteur familial brésilien et du paysan français, en l’occurrence des horticulteurs maraîchers dans deux régions métropolitaines, la Région Métropolitaine de Belo Horizonte (Brésil) et la Région Métropolitaine de l’Île-de-France (France). Ce questionnement recoupe l’idée de « durabilité », comprise non seulement comme la préservation de l’environnement et des écosystèmes, mais aussi comme la prise en compte du tissu social et des conditions de vie des individus, dans ce cas des agriculteurs. En d’autres termes, nous considérons que l’auto-estime et la satisfaction professionnelle sont intrinsèquement liées aux relations sociales et à l’organisation de l’espace dans lequel elles s’insèrent. A partir d’un échantillon intégrant des agriculteurs écologiques et conventionnels, on montre qu’au-delà de valeurs communes représentant une aspiration à une bonne qualité de vie (possibilités de développer un travail salubre - sans risque pour la santé -, prospère - avec un retour financier suffisant - et plaisant - en tant que source de satisfaction et de reconnaissance sociale -), certaines spécificités propres à chacun de ces groupes existent, par-delà l’appartenance régionale. Mais, dans le même temps, il apparaît également que le rapport à la QV vient renforcer la durabilité des exploitations lorsqu’il est incorporé ou relayé dans les projets de développement agricole local. Le rapprochement entre deux contextes régionaux métropolitains permet de comprendre en quoi il existe une spécificité brésilienne autour des questions de sécurité alimentaire et à quelles conditions certaines approches de gestion en France pourraient inspirer les politiques publiques de la région métropolitaine de Belo Horizonte. / After the Green revolution, which began in the years 1960, agriculture took new directions thanks to the introduction of technologies and modern practices (genetic modification of seeds, intensive use of manures, and mechanization of the farms) which made it possible to intensify the production and raise the agricultural productivity. This model of production was formed within the conventional agriculture. However, after less than one century of development, this model of agriculture generated a number of concerns as well for its environmental impact and as well on public health. As an alternative to the conventional agriculture, the ecological agriculture - with its various denominations (Organic, Agro-ecological, Biological, inter alia) - has created its own marks in terms of production and marketing in local and global agro- alimentary systems. Its development was maintained thanks to growing demand and investment of large agro- alimentary companies and family farmers who converted their surfaces to an ecological mode of production. In this context, the inclusion and the adhesion of the small farmers to this type of agriculture is the main framework of this research. The thesis proposes therefore to carry out a reflection around the social sustainability of the farmers with this main question: “Is ecological agriculture a sustainable solution for all?” - which emerges within a social perspective through the analysis of quality of life of Brazilian family farmers and the French peasants, actives within market-gardening inside metropolitan regions of Belo Horizonte (Brazil) and the Metropolitan region of the Ile-de-France (France). This questioning cross the idea of “sustainability”, understood not only like safeguarding of the environment and the ecosystems, but also as taking into account the "social factory" and the living conditions of the individuals, in this case, of the farmers. Thus, the question of the quality of life (QOL) of the farmers – where self-esteem and the job satisfaction are intrinsically related to the social relations and the organization of the space of which they form part – is analysed. The results show inter alia, that the permanence of the production units depends on the conditions given to its owner, taking account of possibilities of developing a salubrious work (without health risk), prosper (with a sufficient financial return) and pleasant (as a source of satisfaction and social recognition). Our work reaffirms thus that ecological agriculture is in fact sustainable for all when the variables of the QOL of the farmers are potentiated and incorporated in the local agricultural development. In addition it's observed that the relation between the values of the QOL and the regional contexts reflects as well in the capacities of the farmers to carry their work as in their feelings of pleasure and self-confidence, i.e. of personal and professional wellbeing. The specificities around the questions of food security in the Brazilian context direct the future research towards arrangements of management strategies used in France and liable to be adapted to the reality of the Belo Horizonte metropolitan region. / Após a Revolução Verde, iniciada na década de 1960, a agricultura tomou novos rumos graças à introdução de tecnologias e práticas agrícolas modernas (modificação genética de sementes, uso intensivo de insumos industriais, mecanização e redução de custo de manejo) que permitiram intensificar a produção e a produtividade agrícola. Esse modelo de produção conformou-se na agricultura convencional. No entanto, a menos de meio século de seu desenvolvimento, este tipo de agricultura tem causado preocupações sobre o seu impacto no meio ambiente e na saúde da população. Como uma proposta alternativa à agricultura convencional, a agricultura ecológica, sob diversos nomes (Orgânica, Agroecológica, Biologique, dentre outras) tem-se destacado no âmbito dos sistemas agroalimentares locais e globais, tanto em termos de produção quanto de área e comercialização. Seu desenvolvimento tem se sustentado por um mercado de investimentos econômicos, representado por grandes empresas agroalimentares e por pequenos agricultores, que converteram suas áreas para uma maneira ecológica de produção. Diante desse contexto, a inclusão ou adesão dos pequenos agricultores a esse tipo de agricultura motiva uma investigação na esfera social. Assim, a proposta dessa tese é trazer uma reflexão acerca da sustentabilidade social dos agricultores, cuja questão: “A agricultura ecológica é uma solução sustentável para todos?” surge com uma perspectiva social sobre as condições de vida e de trabalho do agricultor familiar brasileiro, e do paysan francês, investidos na prática da horticultura ecológica. Este questionamento recai sobre a ideia de “sustentabilidade”, compreendida não somente no aspecto da preservação do meio ambiente e dos ecossistemas, mas também quanto ao tecido social e à qualidade de vida (QV) dos indivíduos, nesse caso, os agricultores. Desta forma, discute-se a QV dos agricultores, cujas autoestima e satisfação profissional encontram-se intrínsecas às relações sociais e às organizações do espaço ao qual eles se inserem. Os limites espaciais da pesquisa englobam duas regiões metropolitanas, a saber: 1) Região Metropolitana de Belo Horizonte – Brasil e; 2) Região Metropolitana de Île-de-France – França.

Valdanha, E. D. (2013). Anorexia nervosa e transmissão psíquica transgeracional: Histórias de vida de pacientes, mães e avós. Dissertação de Mestrado, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo. Os transtornos alimentares (TAs) configuram graves perturbações no comportamento alimentar, que são tema de destaque na literatura científica nacional e internacional. Um dos tipos de TA que mais tem despertado o interesse de leigos e da comunidade científica é a anorexia nervosa (AN), caracterizada por uma recusa da pessoa acometida em manter o peso mínimo adequado para a saúde, além de temor intenso de ganhar peso e distorção significativa da imagem corporal. Estudos mostram que as relações familiares podem atuar como agentes mediadores no surgimento e manutenção da AN, especialmente a configuração vincular mãefilha. Considerando-se que esse vínculo é essencial para o desenvolvimento emocional e que a transmissão psíquica é um operador da dinâmica dos relacionamentos familiares, o presente estudo teve como objetivo investigar a transmissão psíquica em três gerações de famílias que tinham um de seus membros acometidos pela AN, buscando identificar os conteúdos transmitidos transgeracionalmente e suas possíveis relações com o desenvolvimento da AN. Trata-se de um estudo descritivo e exploratório, de abordagem qualitativa. Participaram da pesquisa seis famílias, compostas por pacientes diagnosticados com AN, suas respectivas mães e avós maternas. Os pacientes eram vinculados ao Grupo de Assistência em Transtornos Alimentares - GRATA do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (HC-FMRP-USP). Para a coleta de dados foram utilizados roteiros de entrevista semiestruturada. As entrevistas foram audiogravadas, mediante consentimento dos participantes, e transcritas na íntegra. O material foi submetido à análise de conteúdo temática, o que permitiu extrair as unidades de significado, que emergiram após leitura exaustiva dos relatos. Os dados foram interpretados com apoio do referencial teórico psicanalítico, mais especificamente da transmissão psíquica transgeracional. Foram construídas categorias temáticas relacionadas aos temas: \"fatos marcantes da infância\", \"fatos marcantes de adolescência\", \"relacionamento com os pais\", \"desenvolvimento afetivo-sexual e as relações amorosas\", \"religiosidade\", \"relação mãe-filha(o)\", \"as vivências do corpo e a alimentação\", \"os cuidados maternos percebidos e transmitidos\", \"transmissão da feminilidade\" e \"anorexia nervosa\". Foram identificados padrões distorcidos nos modos como as mães exercem os cuidados maternos, marcados por conflitos e ambivalência afetiva. Os resultados sugerem que vinculações familiares distorcidas são transmitidas como herança psíquica, caracterizando transmissão transgeracional. Essa ausência de elaboração de conteúdos psíquicos, que são transmitidos sucessivamente de geração a geração sem sofrerem transformações, pode ser um importante mediador na gênese e manutenção do transtorno do comportamento alimentar, na medida em que fortalece a perpetuação de vínculos problemáticos, que criam obstruções no processo de amadurecimento emocional da filha. Espera-se que os resultados possam auxiliar os profissionais de saúde a se sensibilizarem para as questões familiares que incidem sobre a AN, contribuindo para o aperfeiçoamento de estratégias (interventivas e preventivas) de cuidado emocional que incluam a família como unidade de tratamento. / Valdanha, E.D. (2013). Anorexia nervosa and transgenerational psychic transmission: Life histories of patients, mothers and grandmothers (Master\'s degree), Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo. Eating disorders (ED) constitute serious disturbances in eating behavior, which are prominent issue in national and international scientific literature. An ED that has mostly attracted the interest of either non-academic or academic community is anorexia nervosa (AN), characterized by a refusal to maintain the minimum weight adequate for health, intense fear of gaining weight and significant distortion of body image. Studies show that familial relations can act as mediating agents in the emergence and maintenance of AN, especially the motherchild relation. Considering this bond as essential to emotional development, and that psychic transmission is an operator of the dynamics within familial relations, the goal of this study was to investigate the psychic transmission in three generations of families which had one member affected by AN, aiming to identify the contents transmitted transgenerationally and their possible relations to the development of AN. This is a descriptive and exploratory study with a qualitative approach. Participants were six families, consisted of patients diagnosed with AN along with their mothers and grandmothers. Patients were assisted by the Group of Assistance on Eating Disorders (GRATA), from the Clinics Hospital of Ribeirão Preto´s School of Medicine, University of São Paulo (HC-FMRP -USP).The instrument used for data collection were semi-structured interview scripts. Interviews were audio recorded, with participants´ consent, and transcribed in full. The material was subjected to thematic content analysis, which enabled to extract the categories of analysis, which emerged after a thorough reading of the transcribed interviews. The data were interpreted with the support of psychoanalysis theoretical framework, more specifically by psychic transgenerational transmission. Thematic categories were raised related to the following topics: \"milestones of childhood\", \"milestones of adolescence\", \"parental relationship\", \"affective-sexual development and love relationships\", \"religiosity\", \"mother-child relationship\", \"experiences of the body and nutrition\", \"perceived and transmitted maternal care\", \" transmission of femininity\" and \"anorexia nervosa\". Distorted patterns were identified in the ways mothers exert maternal care, marked by conflicts and affective ambivalence. Results suggest that distorted family bonds are transmitted as psychic inheritance, featuring transgenerational transmission. This lack of elaboration of psychic contents, which are successively transmitted from generation to generation without transformations, may be an important mediator in the genesis and maintenance of eating disorder, since it strengthens the perpetuation of problematical bonds which create obstructions in child´s process of emotional maturation. It is expected that the results may support health professionals to raise awareness for familial issues that exert influence on AN, contributing to the improvement of assistance strategies (interventional and preventive) for emotional care which includes the family as the unit of treatment.

A hipercolesterolemia familiar (HF) é caracterizada por concentrações elevadas de LDL-c e alta prevalência de doença arterial coronária (DAC) precoce. Entretanto, o curso da DAC nos portadores de HF é variável e pode ser influenciado por outros fatores de risco. O objetivo foi avaliar parâmetros clínicos e nutricionais de adultos portadores de HF heterozigótica por estudo do tipo transversal. Coletou-se do prontuário dos pacientes resultados de exames laboratoriais, medidas de pressão arterial e diagnósticos clínicos. Verificou-se a concordância ou não entre as categorias de risco pelos escores de Framingham (ERF) e pelos critérios estabelecidos para os portadores de HF. Antecedentes pessoais e familiares para DAC, tabagismo, atividade física, consumo alimentar de gorduras, fibras e bebidas alcoólicas foram obtidos por questionário e medidas antropométricas foram aferidas. Foram comparados os grupos com e sem Síndrome Metabólica (SM) e os grupos com e sem DAC por análise univariada. Após, foram verificados os fatores determinantes para o desenvolvimento da DAC mediante modelo de regressão multivariada. Foram entrevistados 110 pacientes (68 mulheres) com média de idade de 48,9 ± 16,2 anos. A presença de história familiar de DAC precoce foi relatada por 67 (61,5%) pacientes. A hipertensão foi encontrada em 59 (53,6%), SM em 38 (34,9%), DAC em 30 (27,3%), HDL-c baixo em 28 (25,5%), diabete melito em 17 (15,5%), 25 (22,7%) eram ex-fumantes e 12 (10,9%) tabagistas. Com a comparação das categorias de risco observou-se discrepância em 77,5% dos casos entre os ERF e os critérios estabelecidos para a população de HF. Quanto ao estado nutricional, 47 (42,7%) eram pré-obesos e 61 (55,4%) com circunferência da cintura alterada. O consumo de gorduras, fibras e bebidas alcoólicas foi considerado adequado. Encontrou-se grande número de sedentários (77%). O grupo dos pacientes com SM tinha idade mais avançada (55 vs 46 anos; p = 0,002), maior número de mulheres (76,3%; p = 0,02) e portadores de DAC (42,1%; p = 0,013). O grupo dos coronarianos tinha idade mais avançada (55 vs 47 anos; p = 0,004), mais pacientes do sexo masculino (60%; p = 0,004), maior presença de hipertensos (90%; p = 0,001), exfumantes (40%; p = 0,008), com SM (53,3%; p = 0,013), HDL-c baixo (53,3%; p = 0,001) e antecedente de infarto agudo do miocárdio (IAM) em irmãos (50%; p = 0,012). As medidas antropométricas, o consumo alimentar e a atividade física não foram diferentes entre os grupos. Após análise de regressão multivariada os fatores de risco determinantes para o desenvolvimento da DAC foram HDL-c baixo (OR 8,4; IC 95% 2,7-27,6), sexo masculino (OR 7,3; IC 95% 2,1-24,7), história de IAM em irmãos (OR 3,4; IC 95% 1,1-10,5) e idade avançada (OR 1,06; IC 95% 1,02-1,1). Em nossa população, HDL-c baixo, sexo masculino, história de IAM em irmãos e idade foram fatores independentes para o desenvolvimento da DAC. / Familial hypercholesterolaemia (FH) is characterized by raised concentrations of LDL-c and high prevalence of premature coronary artery disease (CAD). However, the course of the CAD in the FH is variable and can be influenced by other risk factors. The aim of the study was to assess clinical and nutritional parameters in adults with heterozigous FH by a cross sectional study. Laboratory exams, blood pressure measurement and clinical diagnosis were collected. Agreement or not between the categories of risk by Framingham scores and for established criteria for the FH subjects was verified. Personal and familial history for CAD, smoken habit, physical activity, fats, fibers and alcohol consumption were assessed by questionnaire and anthropometric measurement were verified. The groups with and without Metabolic Syndrome (MS) and groups with and without CAD were compared by univariated analysis. After, multivaried analysis (MVA) was used to assess the significance of differences in risk factors. The sample was composed by 110 patients (68 women) with average of age of 48.9 ± 16.2 years. The presence of familial history of premature CAD was detected in 67 (61.5%)subjects. Hypertension was found in 59 (53.6%), MS in 38 (34.9%), CAD in 30 (27.3%), low HDL-c in 28 (25.5%), diabetes in 17 (15.5%), 25 (22,7%) and 12 (10,9%) were respectively former and current smokers. In the comparison of the risk categories discrepancy was observed in 77.5% of the cases between the Framingham scores and the established criteria for the FH population. Analyzing the nutritional profile, 47 (42.7%) were overweight and 61 (55.4%) had increased waist circumference. The consumption of fats, fibers and alcohol were considered satisfactory. A great number of sedentary subjects was found (77%). The patients with MS were older (55 vs. 46 years; p = 0.002), had a greater number of women (76.3%; p = 0.02) and CAD (42.1%; p = 0.013). CAD subjects were older (55 vs. 47 years; p = 0.004), had a higher prevalence of males (60%; p = 0.004), hypertension (90%; p = 0.001), former smokers(40%; p = 0.008), MS (53.3%; p = 0.013), low HDL-c (53.3%; p = 0.001) and history of myocardial infarction in brothers (50%; p = 0.012). There were no differences between the groups regarding anthropometric measurements, consumption of fats, fiber and alcohol and physical activity. After MVA, independent risk factors for CAD were low HDL-c (OR 8.4; CI 95% 2.7-27.6), male gender (OR 7.3; CI 95% 2.1-24.7), history of myocardial infarction in brothers (OR 3.4; CI 95% 1.1-10.5) and advanced age (OR 1.06; CI 95% 1.02-1.1). In our population, low HDL-c, male gender, history of myocardial infarction in brothers and age were independently associated with the risk of CAD.

Abstract Uterine leiomyomas are the most common benign tumours in females. They are myometrial neoplasms, may present single or multiple, and may be located in various sites of the uterus. Leiomyomas distort the uterine cavity and the uterus itself, causing abnormal vaginal bleeding, reduced fertility and also pelvic pressure and pain symptoms. The aim of this study was to elaborate current knowledge on familial uterine leiomyomas and to explore the possible association between uterine leiomyoma and cardiovascular disease risk factors, and also the association between leiomyomas and endometriosis. The natural history of familial uterine leiomyoma study showed significant differences between familial and non-familial leiomyoma cases, familial cases having more severe clinical characteristics. They presented with multiple uterine leiomyomas and were more often symptomatic. They were also diagnosed at a younger age. The prevalence study on uterine leiomyomas and endometriosis offered confirmation of an association between the diseases. Uterine leiomyomas and endometriosis seem to decrease female fertility independently of each other. Uterine leiomyomas related to the hereditary leiomyomatosis and renal cell cancer (HLRCC) tumour syndrome were studied in regard to their clinical characteristics and immunophenotype. The study provided evidence that women with HLRCC may be identified through distinct leiomyoma clinical characteristics, and routine-use IHC of CD34 and Bcl-2. Distinguishing these leiomyoma cases from sporadic ones may identify families affected by fumarate hydratase (fumarase, FH) mutation. Uterine leiomyoma and cardiovascular disease risk factors were studied in The Northern Finland Birth Cohort 1966 (NFBC1966). The study showed an association between leiomyomas and raised cardiovascular disease risk factors, serum lipids and metabolic syndrome in particular. These findings may suggest that there are shared predisposing factors underlying both uterine leiomyomas and adverse metabolic and cardiac disease risks, or that metabolic factors have a role in biological mechanisms underlying leiomyoma development. This study provides novel information on clinical characteristics of familial uterine leiomyomas and on the immunophenotype of HLRCC-related leiomyomas. The study also offers significant confirmation of associations between uterine leiomyomas and both endometriosis and several CVD risk factors. / Tiivistelmä Kohdun leiomyoomat ovat naisten yleisin hyvänlaatuinen kasvain. Ne ovat myometriumin neoplastisia muutoksia ja ne ilmenevät joko yksittäisinä tai monilukuisina, ja ne voivat sijaita missä tahansa kohdun myometriumia. Leiomyoomat muuttavat kohdun ja kohtuontelon säännöllistä muotoa. Lisäksi ne aiheuttavat vuotohäiriöitä, alentunutta hedelmällisyyttä, ja lantion alueen painetta ja kipua. Tämän tutkimuksen tavoitteena oli laajentaa nykyistä tietämystä suvuittain esiintyvistä kohdun leiomyoomista ja selvittää mahdollista leiomyoomien ja kardiovaskulaaritautiriskin assosiaatiota, ja lisäksi selvittää leiomyoomien ja endometrioosin assosiaatiota. Suvuittain esiintyvien kohdun leiomyoomien taudinkulkua selvittävässä tutkimuksessa osoitettiin merkittäviä eroja suvuittain ja ei-suvuittain esiintyvien leiomyoomien välillä. Suvuittain esiintyvien leiomyoomien kliininen taudinkuva oli vaikeampi, leiomyoomia oli kohdussa useampia ja ne aiheuttivat useammin oireita ja lisäksi ne diagnosoitiin nuoremmalla iällä. Kohdun leiomyoomien ja endometrioosin yleisyyttä selvittävä tutkimus antoi lisävahvistusta sille havainnolle, että nämä taudit assosioivat keskenään. Tutkimustuloksen mukaan leiomyoomat ja endometrioosi vähentävät naisen hedelmällisyyttä toisistaan riippumatta. Perinnöllinen kohdun leiomyomatoosi ja munuaissyöpä (hereditary leiomyomatosis and renal cell cancer, HLRCC) -kasvainoireyhtymään liittyvän kohdun leiomyoomia selvittävän tutkimuksen tuloksien mukaan HLRCC-naisten kohdun leiomyoomien kliiniset ominaisuudet poikkeavat satunnaisesti esiintyvien leiomyoomien ominaisuuksista. Naisella HLRCC voitaisiinkin tunnistaa näiden poikkeavien ominaisuuksien perusteella, sekä immunohistokemiallisilla värjäyksillä CD34 ja Bcl-2. Fumaraattihydrataasi (fumaraasi, FH) -geenin mutaatiota kantava suku voitaisiin siten tunnistaa yksittäisen HLRCC leiomyoomatapauksen avulla. Pohjois-Suomen syntymäkohortti 1966 (Northern Finland Birth Cohort 1966, NFBC1966) tutkittiin kohdun leiomyoomia ja kardiovaskulaarisairauden riskitekijöitä. Tutkimustuloksien perusteella kohdun leiomyoomat assosioivat koholla olevien kardiovaskulaarisairauden riskien kanssa, erityisesti seerumin lipidien ja metabolisen syndrooman suhteen. Näiden tutkimustulosten perusteella voidaan esittää, että leiomyoomien ja terveydelle epäedullisen metabolian ja kardiovaskulaaritaudin riskien taustalla on mahdollisesti joitain yhteisiä altistavia tekijöitä, tai että metabolisilla tekijöillä on rooli kohdun leiomyoomien tautimekanismissa. Tämä tutkimus on tuottanut uutta tietoa suvuittain esiintyvien kohdun leiomyoomien kliinisestä taudinkuvasta ja HLRCC:n liittyvien leiomyoomien immunofenotyypistä. Lisäksi tämä tutkimus esittää lisävahvistusta kohdun leiomyoomien ja endometrioosin assosiaatiolle sekä useille kardiovaskulaaririskitekijöille.

Ce travail propose une analyse des pratiques de bénédiction et des relations de proximité dans une ville du centre-ouest brésilien. L’ethnographie dans les quartiers de Goiás permet d’interroger tout à la fois un univers mu par des formes de religiosité désignées par le terme de caseiras, et la notion de proximité telle que le quotidien des habitants la révèle. Favorisant une approche sensible des pratiques de bénédiction et des relations de proximité, la photographie est mobilisée comme outil de terrain, dispositif analytique et mode de connaissance, pour souligner la particularité des expériences ethnographiques autour du regard et des images et élaborer un récit ethnographique articulant texte et images. Sont ainsi privilégiés dans cette thèse le contenu anthropologique et les aspects esthétiques et émotionnels de la bénédiction. Ces pratiques permettent d’appréhender les relations de solidarité, conflictuelles et intergénérationnelles, qui participent à l’élaboration du lien social entre proches. Impliquant aussi des processus de transmission entre femmes, les relations de proximité sont dynamisées par des ambiguïtés affectives faites à la fois de complicités et de rivalités. Les troubles qu’elles provoquent trouvent leurs formes d’expression et de résolution à partir des religiosités caseiras, les pratiques de bénédiction étant un moyen de réguler les conflits du quotidien, du fait qu’elles prennent en charge les maux du corps et de l’esprit qui en découlent. Ces éléments d’analyse ratifient que le rapport au proche n’est pas toujours harmonieux, et valorisent des modes de connaissance et des pratiques thérapeutico-religieuses non officialisées bien que centrales pour des groupes sociaux entiers, donnant ainsi une autre image de la société goiane et donc de la société brésilienne, à partir des marges du savoir / This work presents an analysis of blessing practices and “close” relationships in a city of central-western Brazil. Ethnography in the neighbourhoods of Goiás allows to question forms of religiosity designated by the term caseiras and the notion of closeness in the everyday life of Goiás inhabitants. Promoting a sensible approach of blessing practices and of “close” relationships, photography is mobilized as a tool for fieldwork, but also an analytical device and as a form of knowledge, to emphasize the particularity of ethnographic experiences of the sight and images. It also allows to develop an ethnographic narrative articulating text and images. Anthropological content as well as aesthetic and emotional aspects of blessing practices are privileged in this research. To focus on the blessing practices allows to grasp relations of solidarity, of conflict and intergenerational relations, which participate in the development of social ties between “close” people. As they also involve transmission between women, “close” relationships are driven by emotional ambiguities based on both complicity and rivalry. The disorders such relationships can cause find forms of expression and resolution into caseiras religiosities, as blessing practices are a way to regulate conflicts of everyday life by working on body and mind illnesses resulting from such conflicts. This work demonstrates how “close” relationship is not always harmonious. It also intends to show how unofficial forms of knowledge and therapeutic-religious practices, although central for entire social groups, can give a fresher look of the goiana society and of the brazilian society from the angle of the margins of institutional knowledge.

Le thème des relations familiales est récurrent dans les œuvres de Natalia Ginzburg et de Marguerite Duras car il leur offre un cadre leur permettant d’interroger deux éléments de la construction narrative : la structure de l’œuvre et la syntaxe narrative.Cependant la singularité de leurs œuvres littéraires réside moins dans la reconstitution de vies familiales, que dans « l’image parlante » qu’elles en donnent. En effet, les deux romancières interrogent la réalité familiale comme lieu de remise en cause du langage. À travers les incompréhensions et les maux de la vie familiale, elles dénoncent en fait un phénomène qui dépasse le cadre restreint de la famille : l’inauthenticité du langage quotidien. Premièrement, il s’agit, dans cette étude, d’observer en quoi Natalia Ginzburg et Marguerite Duras refusent l’ordre narratif traditionnel lorsqu’il leur faut représenter le chaos de la vie familiale. Deuxièmement, nous montrons comment elles opérèrent une reconstitution du monde passant, d’un côté, par la création de liens de causes à effets entre les événements, et de l’autre, par l’entrée en crise du langage. Troisièmement, nous observons pour finir comment la recherche de l’unité familiale conduit les deux auteures à subvertir les normes du langage littéraire pour retrouver, dépasser et même abolir, le temps passé perdu. En somme, ce travail de recherche, effectué dans la cadre d’une cotutelle de thèse entre l’Université Lumière Lyon2 et l’Università degli studi di Torino a pour ambition salutaire de faire connaître un peu plus qu’elles ne le sont déjà, les œuvres de Natalia Ginzburg en France et celles de Marguerite Duras en Italie. / The theme of family relationships is recurrent in the works of Natalia Ginzburg and Marguerite Duras because it offers them a framework to question at least two elements of narrative construction: the structure of the work and the narrative syntax.However, the peculiarity of their literary works lies less in the description of family lives than in "the talking image" that they provide of these lives. Indeed, the two novelists look at the family as a means to question language. Through the misunderstandings and pains of family life, they emphasize in fact a phenomenon that goes beyond the narrow limits of the family: the falsity of everyday language.Firstly, in this study, we observe how Natalia Ginzburg and Marguerite Duras refuse the traditional narrative order when they need to represent the chaos of family life. Secondly, we show how they perform a reconstruction of the world proceeding through the creation of cause-effect links between the events, and through the breakdown of language. Thirdly, we see how the search for family unity led both authors to subvert the norms of literary language to rediscover, go beyond and even destroy the lost past.This research work was carried out in the framework of a joint PhD program of the University Lumière Lyon 2 and the Università degli studi di Torino ; in addition to the academic interest that it might generate, this thesis aims at making Natalia Ginzburg's works a little better known in France and those of Marguerite Duras a little better known in Italy.

Cette thèse démontre l’existence de l’agriculture comme une activité importantedu peuple mapuche à travers l’histoire, avant la conquête espagnole jusqu’auXXIème siècle. La recherche démontre la capacité des Mapuche à résister etcombattre des ennemis puissants et féroceset également l’intelligenteadaptation à toutes les invasions étrangères, même celles de l’Etat Chilien. Lathèse montre les changements dans l’agriculture et la capacité du peuplemapuche à innover, depuis l’invasion des incas au XVème siècle, la conquêtedes espagnols du XVIème au XIXème siècle et l’occupation chilienne jusqu’auXXIème siècle. Au moment de la conquête espagnole, les Mapuche étaient unpeuple en pleine sédentarisation qui occupait un territoire de façon autonome.Les communautés peuplaient des terrains délimités et pratiquaient uneagriculture de subsistance culturelle, en plus de la cueillette, de la pêche et dela chasse. Selon les concepts de culture de UNESCO (2003), Taylor (1977) etla civilisation de Braudel (1966,1968,1970)), les Mapuches possédaient uneculture et une civilisation.La société était organisée en groupes de lignéesmatricielles, ils avaient une cosmovision, une culture et une organisationsociale. Pendant la colonie, ils adoptent et s’approprient les technologieseuropéennes, ils développent un élevage puissant qui s’étend à la pampaargentine. Cette activité génère un échange commercial puissant et diversifiéentre le territoire mapuche et le Royaume du Chili, fait de produits animaux,d’objets manufacturés et de produits alimentaires. L’échange était défavorableaux Mapuche et dut être régulé par des traités. La République commence àreconnaitre les territoires mapuche, mais ensuite, pour des raisons d’expansionéconomique, elle les envahit à feu et à sang. Les Mapuche résistent mais sontmis en déroute par l’armée chilienne, qui a gagné la guerre du Pacifique. LesMapuches commencent le XXème siècle spoliés de 95% de leurs terres, depresque tout leur élevage puissant, de leurs biens capitaux, des machines, deséquipements, des charrues, des semences et des plantations. Mais surtout ilssont exclus, mis en ségrégation et confrontés à des stratégies d’assimilation etd’extermination. Ils meurent d’inanition, de maladies et d’épidémies. C’est à cemoment qu’est générée la vraie dette historique de l’Etat du Chili envers lesmapuche. Les Réformes Agraireset particulièrement celles de l’Unité Populaire(1970-1973) soulèvent le problème des terres usurpées, elles proposent etmettent en oeuvre des solutions, que la dictature militaire (1973-1990) annule.La Concertation pour la Démocratie (1990-2010) reconnait les spécificités dupeuple mapuche et résout une partie des conflits pour la terre. Actuellement, lesmapuche de la campagne sont confrontés à de puissantes stratégiesd’assimilation et d’extermination de leur culture, cependant au niveau descommunautés rurales, on observe la capacité manifeste du peuple mapuche às’adapter aux changements, résister et imposer les termes de base desconditions nécessaires pour se reconstruire comme peuple originaire du Chili. / This thesis demonstrates that, throughout history, before the Spanish conquestuntil the 21st Century, agriculture has been an important activity of the mapuchepeople. Research conducted points out the ability of the mapuche to resist andbattle against powerful and ferocious foes, and in addition, their intelligentadaptation to foreign invasions, including that of the State of Chile. The thesisdemonstrates the changes that took place in agriculture and the ability of themapuche people to innovate, since the Inca invasion in the 15th century, theSpanish conquest through the 16 to 19th centuries, and the Chilean occupationthat extends reaching the 21st century. At the start of the Spanish conquest,mapuches constituted people that autonomously occupied a territory, were fullysedentary, communities populated clearly delimited areas, and conductedagriculture of cultural subsistence, in addition to harvesting native vegetation,fishing and hunting. Society was matricially organized by lineages, by groups,had a cosmic view, culture and social organization. During the Colony, theyadopt and appropriate European technology, develop a powerful animalhusbandry that extends through the Argentinian pampa; this activity generates astrong and diversified commercial exchange between the mapuche territory andthe Kingdom of Chile, of animal products, handicrafts and food products.Exchange was unfavorable for the mapuche and had to be regulated throughparliaments. The Chilean Republic at first recognized the mapuche territories,but later, for reasons of economic expansion, occupies them through war.Mapuches resist and are defeated by the Chilean army that had recently wonthe Pacific Ocean War against Peru and Bolivia. The mapuche enter the 20thcentury deprived of 95% of their territory, almost the total of their powerfulanimal husbandry, their capital goods, machinery, equipment, annual andperennial crops. But above all, they are excluded, segregated, faced withassimilation and extermination strategies, they die from hunger, diseases andpests. The real historical debt of the State of Chile with the mapuche generatesat that point. Agrarian reforms, in particular that of the Popular Unity (1970-73)political government faces the problem of usurped lands and initiates solutions,later reversed by the Military Government (1973-90). Concertation forDemocracy governments (1990-2010), recognizes the specificities of themapuche people and partially solves land conflicts. At present, rural mapucheface powerful strategies of assimilation and cultural extermination; however, atthe rural communities’ level, the ability of the mapuche people to adapt tochanges, adequate, resist, and impose the basic terms of the conditionsnecessary to reconstruct themselves as a Chilean original people has becomeclearly evident. / Esta tesis demuestra la existencia de la agricultura como actividad importantedel pueblo mapuche a través de la historia antes de la conquista hasta el sigloXXI. La investigación demuestra la capacidad de los mapuches para resistir ycombatir a enemigos poderosos y feroces y además la inteligente adaptación atodas las irrupciones extranjeras incluidas las del Estado de Chile. La tesismuestra los cambios en la agricultura y la capacidad del pueblo mapuche parainnovar, desde la invasión de los incas en el siglo XV, la conquista de losespañoles entre los siglos XVI y XIX y la ocupación chilena hasta llegar alsiglo XXI. Los mapuches al momento de la conquista española eran un puebloque ocupaba un territorio en forma autónoma en plena sedentarización, lascomunidades poblaban terrenos delimitados y desarrollaban agricultura desubsistencia cultural, además de la recolección, la pesca y la caza. La sociedadestaba organizada por linajes matricialmente, por grupos, tenían unacosmovisión, una cultura y una organización social. Durante la colonia, adoptany se apropian de tecnologías europeas, desarrollan una poderosa ganaderíaque se extiende por la pampa Argentina; esta actividad genera un fuerte ydiversificado intercambio comercial entre el territorio mapuche y el Reino deChile, de productos animales, artesanado y productos alimentarios. Elintercambio era desfavorable a los mapuches y debió ser regulado medianteparlamentos. La República comienza reconociendo los territorios mapuche,pero luego, por razones de expansión económica los ocupa a sangre y fuego.Los mapuche resisten y son derrotados por el ejército Chileno que ganó laguerra del Pacifico. Los mapuches entran al siglo XX despojados del 95% desus tierras de casi toda su poderosa ganadería, de sus bienes de capital,maquinas, equipos, arreos, siembras y plantaciones. Pero sobre todo sonexcluidos, segregados enfrentados a estrategias de asimilación y exterminio,mueren de inanición, por enfermedades y por la peste. Allí se genera laverdadera deuda histórica del Estado de Chile con los mapuches. LasReformas Agrarias, especialmente la de la Unidad Popular, levantan elproblema de tierras usurpadas y propones y ejecuta soluciones, que ladictadura militar anula. La Concertación por la Democracia reconoce lasespecificidades del pueblo mapuche y soluciona una parte de los conflictos porla tierra. Actualmente los mapuche del campo enfrentan poderosas estrategiasde asimilación y exterminio de su cultura, sin embargo a nivel de lacomunidades rurales se pone de manifiesto la capacidad del pueblo mapuchepara adaptarse a los cambios, adecuarse, resistir e ir imponiendo los términosbásicos de las condiciones necesarias para reconstruirse como pueblooriginario de Chile.