INTRODUÇÃO:A rigidez arterial aumentada é um importante determinante do risco cardiovascular e um forte preditor de morbimortalidade. Além disso, estudos demonstram que o enrijecimento vascular pode estar associado a fatores genéticos e metabólicos. Portanto,os objetivos do presente estudo são determinar a herdabilidade da velocidade de onda de pulso (VOP) e avaliar a associação do perfil lipídico e do controle glicêmico com o fenótipo de rigidez arterial em uma população brasileira.MÉTODOS:Foram selecionados 1675 indivíduos (ambos os gêneros com idade entre 18 e 102 anos) distribuídos em 109 famílias residentes no município de Baependi-MG. A VOP carótida-femoral foi avaliada de forma não invasiva através de um dispositivo automático.As variáveis lipídicas e a glicemia de jejum foram determinadas pelo método enzimático colorimétrico. Os níveis de hemoglobina glicada (HbA1c) foram determinados pelo método de cromatografia líquida de alta eficiência. As estimativas da herdabilidade da VOP foram calculadas utilizando-se a metodologia de componentes de variância implementadas no software SOLAR. RESULTADOS: A herdabilidade estimada para a VOP foi de 26%, sendo ajustada para idade, gênero, HbA1c e pressão arterial média. Os níveis de HbA1c foram associados a rigidez arterial, onde a elevação de uma unidade percentual da HbA1c representou um incremento de 54% na chance de risco para rigidez arterial aumentada. As variáveis lipídicas (LDL-c, HDL-c, colesterol não- HDL-c, colesterol total e triglicérides) apresentaram fraca correlação com a VOP. Além disso, uma análise de regressão linear estratificada para idade (ponto de corte >= 45 anos) demonstrou uma relação inversa entre LDL-c e VOP em mulheres com idade >= 45 anos. CONCLUSÃO: Os resultados indicam que a VOP apresenta herdabilidade intermediária (26%); a HbA1c esta fortemente associada a rigidez arterial aumentada; o LDL-c é inversamente relacionado com a VOP em mulheres com idade >= 45 anos, possivelmente devido às alterações metabólicas associadas à falência ovariana / INTRODUCTION: Increased central arterial stiffness is an important determinant of cardiovascular risk and a strong predictor of morbimortality. Moreover, studies showed that vascular stiffening can be associated with genetic and metabolic factors. Thus, the aims of this study are to estimate the heritability of pulse wave velocity (PWV) and to assess the association of lipid profile and glycemic control with arterial stiffness in a sample from the Brazilian population. METHODS: For this study, 1675 individuals (both genders aged from 18 to 102 years) were selected and they were distributed within 109 families residents in the municipality of Baependi - MG. The PWV was measured with a non-invasive automatic device. Lipid profile parameters and fasting glucose were determined by enzymatic colorimetric method. HbA1c levels were determined by high-performance liquid chromatography. Variance component approaches implemented in the SOLAR software were applied to estimate the heritability of PWV. RESULTS: Heritability estimates for carotid-femoral PWV was 26%, after adjustment for age, gender, HbA1c, and mean blood pressure. HbA1c levels were associated with arterial stiffness and the elevation of a single unit percentage of HbA1c represented an increase of 54 % in the odds of increased arterial stiffness. The lipid variables (LDL-c, HDL-c, non-HDL-c, total cholesterol and triglycerides) presented weak correlation with PWV. In addition, a linear regression analysis stratified by age (cutoff >= 45 years) showed an inverse relation between LDL-c and PWV in women aged 45 or older. CONCLUSION: Our findings indicate that PWV demonstrated an intermediate heritability (26%); HbA1c proved to be a good marker for risk stratification for increased arterial stiffness; LDL-c was inversely related with PWV in women aged 45 or older, possibly due to the metabolic alterations associated with ovarian failure

Resumo: Ao longo da história, o tema da hereditariedade apresentou-se sob interpretações variadas. O desenvolvimento das ciências biológicas permitiu, por um lado, maior conhecimento sobre seus mecanismos; por outro, tornou imprescindível a reflexão sobre determinismos teóricos que parecem recair, principalmente, sobre o campo das ciências da Saúde. A história do movimento eugenista é um evento que permite importantes reflexões sobre o passado e o presente. O termo \"eugenia\" foi criado por Francis Galton em 1883 para nomear uma ciência que visava o melhoramento do patrimônio biológico da humanidade. Para tanto, deveria oferecer teorias e métodos rumo à perfectibilidade física e mental. Renato Kehl (1889-1974), médico e farmacêutico paulista, foi um dos principais expoentes da eugenia brasileira, tomando para si, com afinco, a tarefa de publicista e articulador das sociedades eugênicas que aqui se formaram nas primeiras décadas do século XX. Algumas noções de progresso versus decadência contidas em suas obras em prol do movimento médico-eugenista - publicadas majoritariamente entre 1917 e 1940 - são tratadas nesta dissertação. Fizeram parte da campanha eugenista brasileira os debates acerca da esterilização dos \"indesejados\", das restrições matrimoniais e imigratórias e do confinamento dos chamados \"denegerados\". Nesse contexto o movimento eugenista foi apresentado pelos seus defensores como solução contra a supostamente inevitável e alarmante decadência que acometia o país que se formava / Throughout history the subject of heredity showed up in varied interpretations. The development of life sciences has greater insight into its mechanisms; on the other hand, it becomes indispensable to reflect on theoretical determinisms that appear to fall mainly on the field of Health Sciences. The history of the eugenics is an event that allows important reflections on the past and present. The term \"eugenics\" was coined by Francis Galton in 1883 to name the science of the improvement of the biological heritage of humanity. It should offer theories and methods towards mental and physical perfectibility. Renato Kehl (1889-1974), brazilian physician and pharmacist, was one of the main exponents of Brazilian eugenics, publicist and articulator of eugenic societies formed in the early decades of the twentieth century. Some notions of progress versus decay contained in his works - mostly published between 1917 and 1940 -are treated in this dissertation. Part of the Brazilian eugenics campaign debates about the sterilization of \"unwanted\", about marriage and immigration restrictions and confinement of so-called degenerate. In this context the eugenics movement was presented by its enthusiasts as a solution against the supposedly inevitable and alarming decay that affected the nation

NO ROMANCE DE MARCEL PROUST Em busca do tempo perdidodesfilam ante os olhos do leitorum compêndio de seres enigmáticos, fragmentários, que oferecem em si, ao longo da obra, uma gama de novas imagens e possibilidades. Desse complexo conjunto de seres imprevisíveis, há um caso particular de uma personagem secundária. Figuraaparentemente dentro da narrativa como um ser anedótico, apenas para compor um ambiente cômico, pueril dentro de Combray, a cidadezinha prosaica de infância do herói do romance: a tia Léonie. O objetivo do trabalho que apresentamos não é somente analisar esse ser aparentemente risório, a eterna doente de Combray. Sobretudo, pretende-se mostrar dentro dopróprio romance proustiano que Léonie, como os tantos personagens desse trajeto rumo à descoberta da verdadeira vocação do herói, também colocará sua pequena pedra na composição monumental da obra por vir, pois, ao seu modo, também contribuirá para a composição daquele que renunciará à vida, se reservando apenas o essencial, para compor seu romance. / IN THE NOVEL OF MARCEL PROUST\'S \"In Search of Lost Time\", parade before the reader\'s eyes, a compendium of enigmatic, fragmentary beings, offering itself, throughout the work, a range of new images and possibilities. In this complex set of unpredictable beings, there is a particular case of a secondary character, apparently figuring in the narrative as being anecdotal, just to make a comic, childlike environment in Combray, the prosaic town of the novel heros childhood: Aunt Léonie. The objective of the present work is not only to analyze this seemingly be risorius, \"the eternal sick of Combray.\" Above all, it presents in the Proustian novel itself that Léonie, as so many characters that path towards the discovery of the true vocation of the hero, also put your little stone in monumental composition of the work to come, for, in his own way, also contribute for the composition that he would resign to life, reserve to itself only the essentials, in order to compose his novel.

Submitted by Renata Lopes (renatasil82@gmail.com) on 2016-05-09T18:03:41Z No. of bitstreams: 1 leonardobarbosadealmeida.pdf: 2322318 bytes, checksum: b72ef6938c4b2b8c66b2cd9d901a098a (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2016-06-15T12:37:39Z (GMT) No. of bitstreams: 1 leonardobarbosadealmeida.pdf: 2322318 bytes, checksum: b72ef6938c4b2b8c66b2cd9d901a098a (MD5) / Made available in DSpace on 2016-06-15T12:37:39Z (GMT). No. of bitstreams: 1 leonardobarbosadealmeida.pdf: 2322318 bytes, checksum: b72ef6938c4b2b8c66b2cd9d901a098a (MD5) Previous issue date: 2015-03-30 / INTRODUÇÃO: Filhos de hipertensos apresentam disfunção vascular e autonômica em repouso e durante o exercício físico. Porém, sabe-se que o treinamento físico é capaz de reverter essas mesmas alterações, só que em indivíduos hipertensos. Assim, o objetivo do presente estudo foi testar a hipótese de que a prática regular de exercício físico melhora a função autonômica e vascular de filhos de hipertensos em condições basais e durante o exercício físico. MÉTODOS: Foram avaliados 13 filhos de hipertensos fisicamente ativos (FHA) e 22 filhos de hipertensos sedentários (FHS), pareados por idade (22,5±2,9 vs. 23,8±2,7 anos, p=0,18) e IMC (23,8±1,9 vs. 23,0±3,0 kg/m², p=0,45). Por 10 minutos foi coletado, continuamente, o sinal da frequência cardíaca, pelo cardiofrequencímetro Polar RS800CX. Em seguida, foi aferida a pressão arterial pelo método auscultatório. Posteriormente, o protocolo de exercício físico isométrico de preensão palmar a 30% da contração voluntária máxima foi realizado, sendo registrados, simultaneamente, a pressão arterial, minuto a minuto (método oscilométrico – DIXTAL 2022), o fluxo sanguíneo do antebraço (pletismografia de oclusão venosa – Hokanson), e a frequência cardíaca (cardiofrequencímetro – Polar RS800CX), continuamente, durante 3 minutos basais e 3 minutos de exercício físico. O sinal da frequência cardíaca foi utilizado para análise da modulação autonômica cardíaca, pelo método da variabilidade da frequência cardíaca, em condições basais e durante o protocolo de exercício físico. A condutância vascular do antebraço foi calculada por meio da divisão do fluxo sanguíneo do antebraço pela pressão arterial média e multiplicada por 100. Foram utilizados os teste t de Student, U de Mann-Whitney e ANOVA two way, adotando significativo p≤0,05. RESULTADOS: Em condições basais, os grupos foram semelhantes para pressão arterial sistólica, diastólica, média (p=0,42, p=0,94, p=0,71, respectivamente) e fluxo sanguíneo do antebraço (p=0,06). Mas, o grupo FHA apresentou menor valor de frequência cardíaca de repouso (p<0,01) e maior condutância vascular do antebraço (p=0,05). Na análise da modulação autonômica cardíaca de repouso foram observados valores significativamente maiores das variáveis MNN (p<0,01), RMSSD (p=0,01), pNN50 (p=0,01) e HF (p=0,02) no grupo FHA. Durante o exercício físico, o grupo FHA apresentou respostas de frequência cardíaca, pressão arterial sistólica, diastólica e média significativamente maiores (p<0,01, p<0,01 e p<0,01, respectivamente). Confirmando nossa hipótese, o grupo FHA apresentou maiores respostas no 2º e 3º minuto do exercício físico para o fluxo sanguíneo do antebraço (p<0,01 e p<0,01, respectivamente) e condutância vascular do antebraço (p<0,01 e p=0,03, respectivamente). Além disso, as medidas MNN (p=0,05), SDNN (p=0,02), RMSSD (p=0,02), pNN50 (p=0,03) e LF (p=0,02) foram maiores no grupo FHA durante o protocolo de exercício físico. CONCLUSÃO: Filhos de hipertensos fisicamente ativos apresentam melhor função vascular e modulação autonômica cardíaca em condições basais e durante o exercício físico. / INTRODUCTION: Offspring of hypertensive parents have vascular and autonomic dysfunction at rest and during exercise. However, it is known that exercise training can reverse those changes, but in hypertensive individuals. Thus, the objective of this study was to test the hypothesis that regular physical exercise improves vascular and autonomic function of offspring of hypertensive at baseline conditions and during exercise. METHODS: We evaluated 13 offspring of hypertensive physically active (FHA) and 22 offspring of hypertensive sedentary (FHS), matched for age (22.5 ± 2.9 vs. 23.8 ± 2.7, p=0.18) and BMI (23.8 ± 1.9 vs. 23.0 ± 3.0, p=0.45). For 10 minutes was collected continuously the heart rate signal, by the heart rate monitor Polar RS800CX. Then, blood pressure was measured by the auscultatory method. Subsequently, the isometric exercise protocol handgrip at 30% maximal voluntary contraction was performed, and recorded simultaneously blood pressure, minute by minute (oscillometric method - DIXTAL 2022), forearm blood flow (occlusion plethysmography venous - Hokanson) and heart rate (heart rate monitor - Polar RS800CX) continuously for 3 minutes baseline and three minutes of exercise. The heart rate signal was used for analysis of cardiac autonomic modulation by the heart rate variability method at baseline and during exercise protocol. The forearm vascular conductance was calculated by dividing the forearm blood flow by the mean arterial pressure and multiplied by 100. The Student t-test, U de Mann-Whitney and two-way ANOVA were used, a significance p≤0,05. RESULTS: At baseline, the groups were similar for systolic blood pressure, diastolic and mean (p=0.42, p=0.94 and p=0.71, respectively) and forearm blood flow (p=0.06). But the FHA group showed the lowest resting heart rate (p<0.01) and increased vascular conductance of the forearm (p=0.05). In the analysis of cardiac autonomic modulation at rest were observed significantly higher values of the variables MNN (p<0.01), RMSSD (p=0.01), pNN50 (p=0.01) and HF (p=0.02) in the FHA group. During the exercise, the FHA group showed responses significantly higher of heart rate, systolic blood pressure, diastolic and mean (p<0.01, p<0.01 and p<0.01, respectively). Confirming our hypothesis, the FHA group had higher responses in the 2nd and 3rd minute of exercise for the forearm blood flow (p<0.01 and p<0.01, respectively) and vascular conductance of the forearm (p<0.01 and p=0.03, respectively). Furthermore, the measures MNN (p=0.05), SDNN (p=0.02), RMSSD (p=0.02) pNN50 (p=0.03) and LF (p=0.02) were higher in FHA group during exercise protocol. CONCLUSION: We conclude, therefore, that offspring of hypertensive physically active have better vascular function and cardiac autonomic modulation at baseline conditions and during exercise.

Abstract The aim of the South Karelian Allergy Research Project (SKARP) was to quantify the occurrence of children’s food allergy and food-associated hypersensitivity symptoms and their associated factors. The study population comprised all children born between April 2001 and March 2006 and living in the province of South Karelia, in the south-eastern part of Finland. The questionnaire survey was conducted in co-operation with the child health clinics in the area in 2005&#8211;2006. Concurrently with but independently of the questionnaire study, the results of allergy tests regarding the same child population were collected from patient records. The participation rates in the questionnaire study were 54% (644/1194) among the newborn infants and 69% (3308/4779) among the children aged 1 to 4 years. The lifetime prevalence of parent-reported food allergies was 9% and that of parent-perceived food-associated hypersensitivity symptoms 21% by the age of 4 years. In addition, another 19% of children adhered to an elimination diet without previous symptoms associated with any food items. The prevalence of children with such diets decreased by age. Up to the age of 4 years, 19% of the participants had undergone a food allergy test and 8% of the participants had obtained a positive result in these tests. Physician-diagnosed food allergies and food allergies based on the tests were more common for milk, egg and cereals than for other food items. The tested children and those with a positive test result were only slightly overrepresented among the participants. Allergic manifestations in either biological parent doubled and in both biological parents tripled the incidence of a positive food allergy test. The spring season coinciding with the end of the first trimester of pregnancy predicted sensitisation to food items in the children. In early childhood, food allergies and food hypersensitivities were found to be common in a child population. New population-based knowledge regarding the inheritance of these conditions was obtained. Additionally, an association was observed between the timing of the 11th gestational week in spring and the sensitisation to food items, the detailed reasons and immunological mechanisms of which must be confirmed in further studies. / Tiivistelmä Etelä-Karjalan allergiatutkimus (EKAT) käynnistettiin selvittämään lasten ruoka-allergioiden ja ruokayliherkkyysoireiden esiintyvyyttä ja niihin liittyviä tekijöitä. Tutkimusväestöön kuuluivat kaikki ne Etelä-Karjalan maakunnan alueella asuvat lapset, jotka olivat syntyneet huhtikuun 2001 ja maaliskuun 2006 välisenä aikana. Kyselyaineisto kerättiin yhteistyössä alueen neuvoloiden kanssa vuosina 2005&#8211;2006. Kyselytutkimuksen kanssa samanaikaisesti mutta siitä riippumattomasti kerättiin samaa lapsiväestöä koskevat allergiatestitulokset alueen potilasrekistereistä. Kyselytutkimuksen osallistumisaste oli vastasyntyneiden ikäluokassa 54&#160;% (644/1194) ja isommilla lapsilla 69&#160;% (3308/4779). Kolmannen ikävuoden loppuun mennessä vanhemmat ilmoittivat 9&#160;%:lla lapsista todetun ruoka-allergiaa ja lisäksi 21&#160;%:lla ruokayliherkkyys perustui ainoastaan vanhempien havaintoihin. Näiden lisäksi 19&#160;% lapsista vältti yhtä tai useampaa ruoka-ainetta ilman, että minkään ruoka-aineen olisi todettu aiheuttaneen oireita. Dieettien noudattajien osuus väheni selvästi tarkasteltaessa ikäluokkia yksivuotiaista neljävuotiaisiin. Kolmannen ikävuoden loppuun mennessä ruoka-allergiatestattuja oli 19&#160;% ja positiivisen testituloksen saaneita 8&#160;% tutkimukseen osallistuneista. Lääkärin toteamat ja testeihin perustuneet ruoka-allergiat olivat tavallisempia maidolle, kananmunalle ja viljoille kuin muille ruoka-aineille. Allergiatestatuilla ja positiivisen testituloksen saaneilla oli vain lievä yliedustus kyselytutkimukseen osallistujien joukossa verrattuna kyselyyn vastaamattomiin. Allergiset sairaudet toisella biologisella vanhemmalla kaksinkertaistivat ja molemmilla vanhemmilla kolminkertaistivat positiivisen ruoka-allergiatestin ilmaantuvuuden. Raskauden ensimmäisen kolmanneksen lopun ajoittuminen kevääseen ennakoi syntyvän lapsen herkistymistä ruoka-aineille. Varhaislapsuuden ruoka-allergioiden ja -yliherkkyyksien todettiin olevan tavallisia väestössä. Näiden sairauksien periytyvyydestä saatiin uutta väestötietoa. Lisäksi havaittiin yhteys 11. raskausviikon ajoittumisen kevääseen ja ruoka-aineille herkistymisen välillä. Yhteyden yksityiskohtaiset syytekijät ja immunologiset mekanismit täytyy ehdottomasti vahvistaa jatkotutkimuksin.

Erasmus Darwin (1731-1802) apresentou suas ideias evolutivas principalmente no fim do século XVIII. No entanto, elas não foram consideradas na época. Seu neto, Charles Darwin (1809-1882), na 6ª edição do Origin of species as avaliou de modo negativo, comparando-as às concepções equivocadas de Lamarck. O objetivo desta dissertação é inicialmente, descrever as concepções de hereditariedade e evolução de Erasmus, considerando o contexto de sua época. Além disso, procura esclarecer se o tratamento recebido se deveu a uma proposta fraca ou se ela mereceria uma maior consideração. Esta dissertação contém uma Introdução e quatro capítulos. O Capítulo 1 discute a vida, trabalhos e contexto em que Erasmus apresentou suas ideias. O Capítulo 2 lida com as concepções de herança e evolução presentes em Zoonomia. O Capítulo 3 discute sobre as concepções de Erasmus sobre a transformação das espécies nas plantas. O Capítulo 4 compara as concepções evolutivas de Erasmus com as de Lamarck. O Capítulo 5 procura responder às perguntas colocadas no início desta pesquisa e apresenta algumas considerações finais sobre o assunto discutido. Esta pesquisa leva à conclusão de que a transmutação das espécies não era o principal interesse de Erasmus. Ele não ofereceu uma fundamentação empírica para suas ideias. Este fato, juntamente com a situação sócio-político-religiosa da época, muito provavelmente contribuiu para a recepção sofrida. Além disso, embora existam algumas semelhanças entre as propostas de Erasmus e Lamarck, existem também grandes diferenças tais como a abrangência da pesquisa, o espaço dedicado à discussão das ideias, a fundamentação oferecida, dentre outras. Erasmus não propôs uma teoria coerente lidando com desde a origem da vida até o aparecimento do homem como Lamarck. Ele somente apresentou algumas ideias a esse respeito em obras dedicadas a outros assuntos. / Erasmus Darwin (1731-1802) mainly presented his evolutionary views at the end of the 18th century. However, they were not considered carefully at that time. His grandson, Charles Darwin (1809-1882), in the 6th edition of Origin of species evaluated them in a negative way, comparing them to Lamarcks erroneous conceptions. The aim of this dissertation is firstly to describe Erasmus Darwins conceptions on heredity and evolution considering the context of his time. Besides that, it tries to elucidate the reception received by them was due to a weak proposal or whether they deserved greater consideration. This dissertation comprises an Introduction and five chapters. Chapter 1 discusses Erasmus Darwins life, work and the context in which he presented his ideas. Chapter 2 deals with the conceptions of inheritance and evolution which are present in Zoonomia. Chapter 3 discusses Erasmus view on the transmutation of species in plants. Chapter 4 compares Erasmuss evolutionary conceptions to Lamarcks ones. Chapter 5 tries to answer the questions proposed in the beginning of this research and presents some final remarks concerning the subject. This research leads to the conclusion that the transmutation of species was not the main Erasmus concern. He did not present any empirical foundation of his views related to the subject. This fact, together with the socio-political-religious situation, must have contributed to its reception. Besides that, although there were some similarities between Erasmuss and Lamarcks proposal there were also great differences such as the scope of the research, the space dedicated to its discussion, the foundation provided, among others. Erasmus did not provide a coherent theory of the transmutation of species dealing with since the origin of life to the rise of man, departing from a study of natural history such as Lamarck. In this respect, he only presented a few ideas in works dedicated to other subjects.

This is an analysis of the connection between the domestic science and eugenics. While it is made clear by historians such as Megan Elias and Kathy Cooke that there is ample connection between eugenics and euthenics, there has not been as comprehensive an analysis of the direct connections between domestic science and eugenics. Close examination of literature from the domestic science movement reveals the shared goals of domestic science and eugenics. The domestic science movement was also a necessary precursor to the euthenics movement, not simply a “re-envisioning” of home economics by Ellen Richards. When Richards died, her euthenic ideals would continue to be a part of domestic science in the early decades of the twentieth century. This analysis will contribute in part to the understanding of how, through rhetoric, nations can progress towards more unsightly policies of social engineering from seemingly benign beginnings. Eugenics may not have origins in domestic science, a field of homemaking, cookery, etiquette, and child-rearing, but eugenics certainly shares goals, purposes, and a vision with domestic science.

Problématique à laquelle répond ce projet de recherche: Les troubles respiratoires obstructifs du sommeil (TROS) comprennent différentes anomalies allant du ronflement chronique au syndrome d’apnée obstructive du sommeil (SAOS). Le SAOS toucherait entre 1 et 5% d’une population pédiatrique générale avec un pic d’incidence entre 2 et 6 ans. Les enfants obèses sont particulièrement atteints avec une prévalence pouvant atteindre 40%. Chez les enfants atteints de malformations crânio-faciales sévères, la prévalence peut atteindre plus de 50%. Les conséquences du SAOS sur le développement de l’enfant peuvent être significatives en l’absence de traitement, tant au point de vue de la croissance que des performances cognitives, du comportement et des paramètres cardio-vasculaires, pulmonaires ou métaboliques. Chez l’adulte, la prévalence du SAOS est estimée, dans la population générale, à 3 à 7% des hommes et à 2 à 5% des femmes d’âge moyen. Cette prévalence serait plus élevée dans certains sous-groupes de la population, notamment les personnes en surpoids ou obèses, chez les femmes enceintes, dans certaines ethnies et chez les personnes âgées. Le SAOS peut entrainer une sur- morbidité cardiovasculaire (hypertension artérielle, accident vasculaire cérébral et infarctus du myocarde) et une augmentation des accidents de travail ou de la circulation imputables à la somnolence. Il est actuellement reconnu que le SAOS pédiatrique et le SAOS de l’adulte ont des causes, des présentations et des conséquences différentes. On ne sait cependant pas si le SAOS de l’adolescent est une poursuite de la forme pédiatrique ou une forme précoce du SAOS de l’adulte. On ne sait pas non plus si certains facteurs de risque sont présents précocement chez l’enfant et persistent jusqu’à l’âge adulte, ou si les deux formes SAOS pédiatrique / adulte ont une étiologie relativement indépendante. Objectifs: Comparer la distribution des caractéristiques morphologiques dento-faciales, fonctionnelles oro- nasales et de l’adiposité entre les membres d’une même famille, (quand à la fois) lorsqu’un enfant et un parent présentent des symptômes de troubles obstructifs du sommeil. Un des membres devra avoir reçu préalablement un diagnostic de SAOS. Type de recherche: Étude transversale observationnelle Méthodologie: Nous avons recruté des enfants afin de planifier un enregistrement du sommeil au CHU Sainte- Justine avec au minimum un de ses parents biologiques directs. Les procédures expérimentales qui ont été utilisées avec chacune de ces familles étaient : • Une évaluation crânio-faciale et fonctionnelle de l’enfant et d'au moins un de ses parents, incluant la prise de photos • Un questionnaire de dépistage du SAOS et un arbre généalogique sur 3 générations • Un enregistrement du sommeil de l’enfant • L'enregistrement du poids et de la taille, de la circonférence du cou, de la circonférence de la taille ainsi que des symptômes liés au SAOS Résultats: Nous avons inclus un groupe de 20 paires (un enfant couplé à un de ses parents). De ce groupe, 13 enfants ont été diagnostiqué du SAOS et 7 en étaient non atteints. Pour ce qui est de l'analyse des questionnaires des enfants, 100% des apnéiques rapportaient une obstruction nasale. Pour les caractéristiques crânio-faciales, 85% de tous les enfants avait la même classification du tonus labial et jugal, 90% de tous les enfants avait avaient la même forme d'arcade maxillaire et mandibulaire et 100% des enfants apnéiques présentaient la même classification de chevauchement dentaire que leur parent. Dans le cas de l'analyse anthropométrique sur photographies, les mesures de la hauteur faciale totale, de la hauteur du tier inférieur et la 2 position antéro-postérieure du maxillaire sont celles qui ont démontrées une certaine tendance d'héritabilité. La mesure N-Gn était plus grande chez les enfants apnéiques, ce qui signifie une hauteur faciale totale plus grande (Cohen d = 1,007). La mesure Sn-Gn était aussi plus grande chez les enfants apnéiques, ce qui signifie un tier inférieur plus long (Cohen d = 1,010). Enfin, l'angle T- N-Sn est plus petit chez les enfants apnéiques (Cohen d = 0,851). Conclusion: L'étude actuelle est une étude pilote constitué d'un échantillon limité. Seul un des deux parents de chaque famille a accepté de participer. Malgré cela, on peut voir une certaine tendance d'héritabilité au niveau du tonus labial et jugal, de la forme des arcades dentaires, de la classification du chevauchement dentaire et de l'obstruction nasale. Des études plus importantes seront cependant nécessaires afin d'obtenir des résultats statistiquement significatifs. / Problem addressed by this research project: Sleep Disordered Breathing (SDB) includes different abnormalities ranging from chronic snoring to obstructive sleep apnea syndrome (OSAS). OSAS would affect between 1 and 5% of a general pediatric population with a peak incidence between 2 and 6 years old. Obese children are particularly affected with a prevalence of up to 40%. In children with severe craniofacial malformations, the prevalence can reach more than 50%. The consequences of OSAS on child development can be significant in the absence of treatment, both in terms of growth and cognitive performance, behavior and cardiovascular, pulmonary or metabolic parameters. In adults, the prevalence of OSAS is estimated, in the general population, at 3 to 7% of men and 2 to 5% of middle-aged women. This prevalence would be higher in certain subgroups of the population, in particular overweight or obese people, in pregnant women, in certain ethnic groups and in the elderly. OSAS may lead to increased cardiovascular morbidity (arterial hypertension, stroke, myocardial infarction), and an increase in work or traffic accidents attributable to drowsiness. It is currently recognized that pediatric OSAS and adult OSAS have different causes, presentations and consequences. However, it is not known whether adolescent OSAS is a continuation of the pediatric form or an early form of adult OSAS. It is also unclear whether certain risk factors are present early in childhood and persist into adulthood, or whether the two pediatric/adult forms of OSAS have a relatively independent etiology. Aims: To compare the distribution of dentofacial morphological, oronasal functional characteristics and adiposity between members of the same family, when both child and parent present with symptoms of SDB. One of the members must have previously received a diagnosis of OSAS. Type of research: Observational cross-sectional study Methodology: We recruited children scheduled for sleep recording at CHU Sainte-Justine as well as at least one of their direct biological parents. The experimental procedures that were used with each of these families were: • A craniofacial and functional assessment of the child and at least one of his parents, including taking photos • An OSAS screening questionnaire and a 3-generation family tree • A sleep recording of the child • Records of weight and height, neck circumference, waist circumference and symptoms related to sleep apnea were also collected Results: We included a group of 20 pairs (a child coupled to one of his parents. Of this group, 13 children were diagnosed with OSAS and 7 were unaffected. Regarding the analysis of the children's questionnaires, 100% of apneic patients report nasal obstruction. For craniofacial features, 85% of all children had the same labial and jugal tone classification, 90% of all children had the same maxillary and mandibular arch shape, and 100% of apneic children had the same classification of the dental crowding as their parent. In the case of the anthropometric analysis on photographs, the measurements of the total facial height, the height of the lower third and the anteroposterior position of the maxilla are those that demonstrated a certain trend. The N-Gn measurement was greater in children with apnea, signifying greater total facial height (Cohen d = 1.007). The Sn-Gn measure was also greater in children with apnea, meaning one lower third longer (Cohen d = 1.010). Finally, the T-N-Sn angle is smaller in apneic children (Cohen d = 0.851). 5 Conclusion: The current study is a pilot study consisting of a limited sample. Only one parent from each family agreed to participate. Despite this, we can see a certain trend of heritability at the level of the labial and jugal tone, the shape of the dental arches, the classification of the dental crowding and the nasal obstruction. However, larger studies will be needed to obtain statistically significant results.

[pt] O trabalho tem como objetivo analisar a loucura na cidade do Rio de Janeiro no final do século XIX e início do século XX, bem como os temas que com ela se relacionam tais como raça, alcoolismo e hereditariedade, através da lente do escritor-paciente Afonso Henriques de Lima Barreto, privilegiando os escritos ficcionais e autobiográficos do autor. A pesquisa procurou inserir o registro do particular, isto é, de um indivíduo que sofreu na própria pele a discriminação e o tratamento destinado aos que eram considerados doentes mentais, de forma que o estudo possa ser visto e examinado dentro de uma perspectiva mais ampla. A dissertação foi dividida em três momentos: a tentativa de estabelecer uma analogia entre a experiência da loucura e aquela vivida por todos os habitantes do Rio de Janeiro nos primeiros anos do século XX, a análise das concepções médicas e científicas sobre a loucura e a presença do tema nos textos do autor e, por último, o convívio do romancista com a loucura no espaço doméstico e também no Hospício Nacional de Alienados. / [en] The present study aims at analyzing mental diseases in the city of Rio de Janeiro at the end of the 19th century and at the beginning of the 20th century, as well as the issues related to madness, such as race, alcoholism and heredity, through the eyes of the writerpatient Afonso Henriques de Lima Barreto, mainly through his fiction and autobiographic writings. The present analysis tried to include individual records, i.e. records of a man who was segregated and treated according to the procedures given to the mentally sick at that time, so that the research could be carried out within a broader perspective. The dissertation consists of three parts: the attempt to establish similarities between the experience of madness and the experience lived by the population in Rio de Janeiro during the first years of the 20th century, the analysis of scientific information and doctors` concepts on mental disturbance and the presence of the theme in the writer`s works and last, the writer`s experience with madness both at home and at the asylum Hospício Nacional de Alienados.

Made available in DSpace on 2016-04-28T14:16:39Z (GMT). No. of bitstreams: 1 Andreza Polizello.pdf: 806973 bytes, checksum: 2f1d51dd54a25808c194bffdd9f6ab2c (MD5) Previous issue date: 2009-05-14 / Secretaria da Educação do Estado de São Paulo / Francis Galton (1822-1911) made important contributions in several fields of science. Among other things, he was the founder of the Biometric School developed by Karl Pearson and Walter Frank Raphael Weldon. The aim of this dissertation is to discuss Galton s ideas on inheritance developed during the period between 1855 (when he published his first works on the subject) and 1889 (when he published the book Natural inheritance), especially focusing his theory of stirps (1872), taking into account the other microscopic models of inheritance proposed in the 19th century. Besides that, it will compare Galton s theory of stirps to Darwin s hypothesis of pangenesis. Moreover, it will try to detect if there were significant changes in Galton s thought concerning the subject during this period. It will also try to elucidate if the low impact received by the theory of stirps was due to a weak foundation. This dissertation contains an introduction and five chapters. Chapter 1 presents some microscopic models of inheritance which were proposed during the 19th century. Chapter 2 discusses Darwin s hypothesis of pangenesis and its test made by Galton. Chapter 3 analyses Galton s theory of stirps. Chapter 4 discusses about the development of Galton s theory of heredity from 1865 to 1892. Chapter 5 provides some final remarks on the subject. This study led to the conclusion that Galton s proposal presented some peculiarities which differentiated it from the other ones of his time such as the experimental test of pangenesis, the performance of several experiments with peas, dogs and the study of genealogies and in addition to this, his concern in giving a statistical treatment to the data. A comparison between his several works showed a continuity of his thoughts on heredity with no significant changes / Francis Galton (1822-1911) trouxe importantes contribuições para diversos campos da ciência. Entre outras coisas, ele foi o fundador da Escola biometricista desenvolvida por Karl Pearson e Walter Frank Raphael Weldon. O objetivo desta dissertação é discutir as idéias de Galton acerca da herança desenvolvidas durante o período compreendido entre 1855 (quando ele publicou seus primeiros trabalhos sobre o assunto) e 1889 (quando ele publicou seu livro Natural inheritance), focalizando especialmente sua teoria das estirpes (1872), levando em conta os outros modelos microscópicos de herança propostos durante o século XIX. Além disso, comparará a teoria das estirpes de Galton com a hipótese da pangênese de Darwin. Procurará detectar se houve mudanças significativas no pensamento de Galton em relação ao assunto tratado durante esse período. Procurará também elucidar se o baixo impacto recebido pela teoria das estirpes se deveu a uma fundamentação fraca. Esta dissertação contém uma introdução e cinco capítulos. O Capítulo 1 apresenta alguns modelos microscópicos de herança que foram propostos durante o século XIX. O Capítulo 2 discute a hipótese da pangênese de Darwin e seu teste feito por Galton. O Capítulo 3 analisa a teoria das estirpes de Galton. O Capítulo 4 comenta sobre o desenvolvimento da teoria da hereditariedade de Galton de 1865 a 1892. O Capítulo 5 apresenta algumas considerações finais sobre o assunto. Este estudo levou à conclusão de que a proposta de Galton apresentou algumas peculiaridades que a diferenciavam das outras propostas de sua época tais como o teste experimental da pangênese, a realização de vários experimentos com ervilhas, cachorros e o estudo de genealogias e, além disso, sua preocupação em dar um tratamento estatístico aos dados. Uma comparação entre seus diversos trabalhos mostrou a existência de uma continuidade em seus pensamentos sobre hereditariedade e a ausência de mudanças significativas. Além disso, parece que o baixo impacto recebido pela teoria das estirpes de Galton não se deveu a uma fundamentação deficiente