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

O desenvolvimento de formas comuns de diabetes ocorre a partir da interação de fatores ambientais e genéticos. Como consequências da falta de controle glicêmico nesses pacientes várias complicações são geradas. Estudos metabolômicos para diabetes mellitus tipo 2 no soro/plasma relataram mudanças em vários metabólitos, os quais podem ser considerados possíveis alvos para futuras pesquisas mecanicistas. Como o diabetes mellitus tipo 2 é uma doença que altera o perfil metabólico em vários níveis, este trabalho teve como objetivo comparar os indivíduos com diabetes mellitus tipo 2 e com indivíduos não-diabéticos. Além disso, foram explorados o design exclusivo de um estudo de base familiar para trazer uma melhor compreensão da relação causal de metabólitos identificados e o diabetes. No presente estudo, metabolômica de base populacional foi realizada em 939 amostras de soro de indivíduos participantes do Projeto Corações de Baependi. Os participantes foram separados em dois grupos: diabéticos (77 indivíduos) e não-diabéticos (862 indivíduos). Com a técnica de GC/MS, normalização e análise estatística utilizadas, foi possível identificar metabólitos diferencialmente alterados em soro de diabéticos e não-diabéticos. Foram identificados 72 metabólitos com diferentes concentrações médias em indivíduos com diabetes mellitus tipo 2, em comparação com indivíduos saudáveis. Foi possível recapitular as principais vias que são alteradas no indivíduo diabético e a identificação de metabólitos sugestivos de estarem elevados no diabetes. Os dados de hereditariedade puderam ser utilizados para uma melhor compreensão da relação causal das associações observadas e ajudar a priorizar metabólitos associados ao diabetes para trabalhos futuros / The development of common forms of diabetes comes from the interaction between environmental and genetic factors, and the consequences of poor glycemic control in these patients can result in several complications. Metabolomics studies for type 2 diabetes mellitus in serum/plasma have reported changes in numerous metabolites, which might be considered possible targets for future mechanistic research. As type 2 diabetes is a disease that changes the metabolic profile in several levels, this work aimed to compare type 2 diabetes mellitus and non-diabetic participants of a family-based epidemiological study. In addition, we exploited the unique design of a family-based study to bring a better understanding of the causal relationship of identified metabolites and diabetes. In the current study, population based metabolomics was applied in 939 participants of \"the Baependi Heart Study\". Participants were separated into two groups: diabetic (77 individuals) and non-diabetic (862 individuals). By GC/MS technique, normalization and statistical analysis, it was possible to identify differentially concentrated metabolites in serum of diabetics and non-diabetics. 72 metabolites were identified as up regulated in type 2 diabetes mellitus subjects compared to non-diabetic individuals. It was possible to recapitulate the main pathways that are changed in the diabetic subject and the identification of metabolites suggestive of being upstream of diabetes. Heritability data was used to derive a better understanding of the causal relationship of the observed associations and help to prioritize diabetes-associated metabolites for further work

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

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.

<p>A total population of 4,479 children (7-15 years of age) attended school in Ludvika & Smedjebacken in 2000. All the school children and their parents were asked to fill in a questionnaire concerning different tics A three-stage procedure was used: tic identification, interview, and clinical assessment.</p><p>Tourette syndrome, according to DSM IV criteria was found in 25 (0.6%) of the children, another 34 (0.8%) suffered from chronic motor tics (CMT), 24 (0.4%) from chronic vocal tics (CVT) and 214 (4.8%) children had had transient tics (TT) during the last year. Altogether 297 (6.6%) children had or had had some tic disorder. </p><p>Twenty-five controls without tics and 25 children with TT of the same age, sex and school as the TS children were randomly chosen. They were together with the 34 children with CMT and the 24 children with CVT examined with use of a broad battery of instruments. </p><p>The mean age of the first symptoms of TS was significantly lower than the onset of chronic motor/vocal tics. A younger age of onset of TS indicated more severe tics. Eighty per cent had a first-degree relative with a psychiatric disorder such as tic disorder, obsessive-compulsive behaviour, attentiondeficit/hyperactivity disorder (ADHD), or depression. A non-significant increase with regard to reduced optimality score in the pre-, peri-, or neonatal periods was found in children with TS compared to controls. No differences were found concerning socio-economic status. Psychiatric comorbid disorders were found in 92% of the children with TS. ADHD was most common. Patterns of psychiatric comorbidity were similar in children with TS and CVT. Children with TS perform poorer than the population in general with respect to cognitive functioning and self-perception.</p><p>The results are discussed as they relate to the need for case identification, diagnosis, intervention, and treatment. </p>

A total population of 4,479 children (7-15 years of age) attended school in Ludvika &amp; Smedjebacken in 2000. All the school children and their parents were asked to fill in a questionnaire concerning different tics A three-stage procedure was used: tic identification, interview, and clinical assessment. Tourette syndrome, according to DSM IV criteria was found in 25 (0.6%) of the children, another 34 (0.8%) suffered from chronic motor tics (CMT), 24 (0.4%) from chronic vocal tics (CVT) and 214 (4.8%) children had had transient tics (TT) during the last year. Altogether 297 (6.6%) children had or had had some tic disorder. Twenty-five controls without tics and 25 children with TT of the same age, sex and school as the TS children were randomly chosen. They were together with the 34 children with CMT and the 24 children with CVT examined with use of a broad battery of instruments. The mean age of the first symptoms of TS was significantly lower than the onset of chronic motor/vocal tics. A younger age of onset of TS indicated more severe tics. Eighty per cent had a first-degree relative with a psychiatric disorder such as tic disorder, obsessive-compulsive behaviour, attentiondeficit/hyperactivity disorder (ADHD), or depression. A non-significant increase with regard to reduced optimality score in the pre-, peri-, or neonatal periods was found in children with TS compared to controls. No differences were found concerning socio-economic status. Psychiatric comorbid disorders were found in 92% of the children with TS. ADHD was most common. Patterns of psychiatric comorbidity were similar in children with TS and CVT. Children with TS perform poorer than the population in general with respect to cognitive functioning and self-perception. The results are discussed as they relate to the need for case identification, diagnosis, intervention, and treatment.

No description available.

No description available.

Freie Univ., Diss. u.d.T.: Schwerin, Alexander von: Tierzucht, Strahlen und Pigmente--Berlin, 2002. / Personalbibliogr. H. Nachtsheim S. [350] - 371.

O desenvolvimento de formas comuns de diabetes ocorre a partir da interação de fatores ambientais e genéticos. Como consequências da falta de controle glicêmico nesses pacientes várias complicações são geradas. Estudos metabolômicos para diabetes mellitus tipo 2 no soro/plasma relataram mudanças em vários metabólitos, os quais podem ser considerados possíveis alvos para futuras pesquisas mecanicistas. Como o diabetes mellitus tipo 2 é uma doença que altera o perfil metabólico em vários níveis, este trabalho teve como objetivo comparar os indivíduos com diabetes mellitus tipo 2 e com indivíduos não-diabéticos. Além disso, foram explorados o design exclusivo de um estudo de base familiar para trazer uma melhor compreensão da relação causal de metabólitos identificados e o diabetes. No presente estudo, metabolômica de base populacional foi realizada em 939 amostras de soro de indivíduos participantes do Projeto Corações de Baependi. Os participantes foram separados em dois grupos: diabéticos (77 indivíduos) e não-diabéticos (862 indivíduos). Com a técnica de GC/MS, normalização e análise estatística utilizadas, foi possível identificar metabólitos diferencialmente alterados em soro de diabéticos e não-diabéticos. Foram identificados 72 metabólitos com diferentes concentrações médias em indivíduos com diabetes mellitus tipo 2, em comparação com indivíduos saudáveis. Foi possível recapitular as principais vias que são alteradas no indivíduo diabético e a identificação de metabólitos sugestivos de estarem elevados no diabetes. Os dados de hereditariedade puderam ser utilizados para uma melhor compreensão da relação causal das associações observadas e ajudar a priorizar metabólitos associados ao diabetes para trabalhos futuros / The development of common forms of diabetes comes from the interaction between environmental and genetic factors, and the consequences of poor glycemic control in these patients can result in several complications. Metabolomics studies for type 2 diabetes mellitus in serum/plasma have reported changes in numerous metabolites, which might be considered possible targets for future mechanistic research. As type 2 diabetes is a disease that changes the metabolic profile in several levels, this work aimed to compare type 2 diabetes mellitus and non-diabetic participants of a family-based epidemiological study. In addition, we exploited the unique design of a family-based study to bring a better understanding of the causal relationship of identified metabolites and diabetes. In the current study, population based metabolomics was applied in 939 participants of \"the Baependi Heart Study\". Participants were separated into two groups: diabetic (77 individuals) and non-diabetic (862 individuals). By GC/MS technique, normalization and statistical analysis, it was possible to identify differentially concentrated metabolites in serum of diabetics and non-diabetics. 72 metabolites were identified as up regulated in type 2 diabetes mellitus subjects compared to non-diabetic individuals. It was possible to recapitulate the main pathways that are changed in the diabetic subject and the identification of metabolites suggestive of being upstream of diabetes. Heritability data was used to derive a better understanding of the causal relationship of the observed associations and help to prioritize diabetes-associated metabolites for further work