Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2017-01-30T09:39:39Z No. of bitstreams: 2 Dissertação - Waleska Alves de Oliveira de Queiroz Bernardes - 2014.pdf: 3624730 bytes, checksum: 9181c96dd12666e2e577be076396cc65 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-01-30T10:02:25Z (GMT) No. of bitstreams: 2 Dissertação - Waleska Alves de Oliveira de Queiroz Bernardes - 2014.pdf: 3624730 bytes, checksum: 9181c96dd12666e2e577be076396cc65 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Made available in DSpace on 2017-01-30T10:02:25Z (GMT). No. of bitstreams: 2 Dissertação - Waleska Alves de Oliveira de Queiroz Bernardes - 2014.pdf: 3624730 bytes, checksum: 9181c96dd12666e2e577be076396cc65 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2014-09-15 / CKD is a public health issue, with an estimated prevalence of 10% worldwide. Recently, the CKD was founded like an important cause of premature mortality, especially that caused by cardiovascular disease. This study intent was to identify and quantify cardiac morphofunctional alterations, and to verify the association between echocardiographic parameters and clinical variables, in a population with CKD stages G3A, G3B and G4, at conservative treatment. It is a cross-sectional study, including 55 patients with CKD stable disease for at least 1 year. We evaluated anthropometric measures, blood pressure values, creatinine, glomerular filtration rate, CKD stage, urine albumin-to-creatinine ratio, serum albumin, lipid profile, serum phosphorus, serum calcium, PTH levels, hemoglobin levels, Creactive protein levels, smoking, hypertension, diabetes and established cardiovascular disease. We observed high frequency of diastolic dysfunction (80%) and left ventricular hypertrophy (52,7%). The frequency of systolic dysfunction was 9,1% and valve cardiac calcification was 41,8%. Only one echocardiographic measure – the velocity of Sm wave – presented association with CKD stage. This measure is a marker of early systolic dysfunction. Neither the other echocardiographic parameters nor the presence of cardiac morphofunctional alterations presented association with CKD-related risk factors, only with traditional cardiovascular risk factors. / A DRC é um problema de saúde pública, com prevalência estimada em torno de 10% da população mundial. Cada vez mais, têm-se descoberto a relevância da DRC, desde seus estágios iniciais, como importante causa de morbi-mortalidade, em especial o aumento da morbi-mortalidade cardiovascular. O objetivo deste estudo foi avaliar uma população de pacientes com DRC estágios G3A, G3B e G4, em tratamento conservador, a fim de identificar e quantificar a presença de alterações cardíacas morfofuncionais, e verificar associação entre parâmetros ecocardiográficos de função sistólica e diastólica com variáveis clínicas. Trata-se de um estudo transversal que incluiu 55 pacientes adultos com DRC estável há pelo menos 1 ano. Foram avaliadas medidas antropométricas, valores de pressão arterial, creatinina, taxa de filtração glomerular estimada, estágio da DRC, relação albumina/creatina urinária, albumina, lipidograma, fósforo, cálcio, PTH, hemoglobina, proteína C reativa, tabagismo, presença de hipertensão arterial, diabetes e doença cardiovascular em geral. Observou-se alta frequência de disfunção diastólica (80%) e hipertrofia ventricular esquerda (52,7%) nesta população. A frequência de disfunção sistólica foi de 9,1% e de calcificação valvar foi de 41,8%. Apenas uma medida ecocardiográfica – a onda sm septal – apresentou associação com o estágio da DRC. Tal medida é um marcador de disfunção sistólica precoce. As demais medidas ecocardiográficas, bem como as alterações morfofuncionais, apresentaram associação apenas com fatores de risco cardiovascular tradicionais.

No transtorno fonológico podem ocorrer concomitantemente alterações fonéticas e fonológicas, que comprometem a articulação e o conhecimento internalizado do sistema de sons da língua. As alterações fonéticas podem acontecer também em crianças com desenvolvimento típico de linguagem. Várias pesquisas têm mostrado a importância de se utilizar técnicas objetivas durante o diagnóstico bem como da aplicação de índices de gravidade. O objetivo desta pesquisa é identificar a ocorrência de distorções de fala e aplicar e comparar os índices de gravidade em crianças entre cinco e sete anos de idade com e sem transtorno fonológico. Para isso, foram avaliadas 30 crianças com desenvolvimento típico de linguagem (GSTF) e 15 crianças com transtorno fonológico (GTF). Foram aplicadas provas experimentais de fonologia, fala espontânea e avaliação da motricidade orofacial e calculados os índices PCC, PCC-R, PDI, RDI e ACI nas provas de fonologia e fala espontânea. Se detectada qualquer tipo de distorção em quaisquer umas das provas de fonologia nos sons [s], [z], [?], [?], [l], [?] e [?] era aplicada a prova para verificação específica de distorção, além da palatografia e linguografia.Os resultados apontaram que no GSTF, 23,3% das crianças apresentou distorção nas provas de fonologia e fala espontânea nos sons [s], [z], [?] e [l]; no GFT 20% das crianças apresentou distorção nas provas de fonologia e fala espontânea nos sons [s], [z] e [?]; não houve evidências de diferença significativa entre o número de sujeitos que apresentaram distorção no GSTF e GTF. Houve diferença significante apenas nas provas de imitação e fala espontânea na faixa etária de sete anos, com maior ocorrência de distorção do [s] no grupo GTF do que no GSTF. Apenas o GTF apresentou distorção no [?], parece que a distorção deste som está mais relacionada ao transtorno fonológico. A análise da palatografia confirmou a análise perceptiva, oferecendo a vantagem de mostrar o local exato da produção. No GSTF e no GTF, os sujeitos que não apresentaram distorção obtiveram todos os índices melhores do que os sujeitos com distorção. O índice ACI indicou que o GSTF sem distorção teve o melhor desempenho, mostrando-se adequado para medir a competência articulatória . / Phonological and phonetic alterations can occur together in the phonological disorder compromising the articulation and the internal knowledge of the speech sounds of a language. Phonetic alterations can occur in children with typical phonological development. Several researches have shown the importance of the use of objective techniques during both the diagnosis of disorder and application of severity indexes. The aim of this research is to identify the occurrence of distortions in the speech. Also, to apply and compare severity indexes in children between five and seven years old with and without phonological disorders. 30 children with typical language development (GSTF) and 15 phonologically-disordered children (GTF) were assessed. Experimental test of Phonology (nomeation, imitation and continuous speech) and the oral motricity were applied. The PCC, PPC-R, PDI, RDI and ACI indexes were calculated based on Phonology tests. If any kind of distortion as detected in any Phonology test related to the sounds [s], [z], [?], [?], [l], [?] and [?], the specific test to verify distortion was used, for confirmation and perceptual classification of kind distortion, besides the palatography and tongue graph. The results pointed that in the GSTF, 23,3% of the children presented distortion in the Phonology tests and continuous speech in the [s], [z] and [?] sounds; there was no evidence of statistic differences between number of subjects that presented distortion in the GSTF and in the GTF. There was significant difference only in the imitation and continuous speech tests in the age range of seven years, with more occurrence of [s] distortion in the GTF compared to the GSTF. Only the GTF presented [] distortions. It seems that this distortion is more related to the phonological disorder. The palatography and the tongue graph confirmed the perceptive analysis, offering the advantage of showing the exact place of production. All subjects from the GSTF and GTF that did not present distortions had better severity indexes compared to the subjects that presented it. The ACI index indicated that the GSTF without distortion had better performance, showing that it is adequate to measure articulatory competence.

Orientador: Danilo Moretti-Ferreira / Resumo: As ACs são alterações visíveis nos cromossomos, classificadas como numéricas e estruturais. Atualmente o grande desafio da genética clínica é classificar e associar a relevância clínica dos desequilíbrios genéticos ao fenótipo dos portadores. O trabalho tem como objetivo principal caracterizar desequilíbrio genômico sem diagnóstico sindrômico previamente descritos pelas técnicas de citogenética clássica, molecular visando apurar os pontos de quebras e genes inseridos na região cromossômica alterada por meio da citogenômica em estudos de casos. Foram feitas análises por citogenética (bandamento GTG), citogenética molecular (FISH) e citogenômica (array-CGH) em três pacientes com malformações congênitas não-sindrômicas para definição diagnóstica e maior conhecimento sobre a correlação genótipo-fenótipo. Foram redigidos estudos de casos de três pacientes portadores de MCs, atraso do desenvolvimento e deficiência intelectual. O primeiro copilado de caso trata-se de paciente do sexo feminino com anomalias esqueléticas, deficiência intelectual e atraso do desenvolvimento. O cariótipo da paciente é 46,XX[11]/47,XX,+mar[9]. A análise de array-CGH revelou dois ganhos/duplicações nas bandas cromossômicas 6p11.2q12 (10.335 Mb de tamanho) e 6q14.1q14.3 (10.765 Mb de tamanho). Por meio da técnica da FISH e os resultados do array-CGH a região duplicada 6q14.1q14.3 encontra-se inserida em um cromossomo marcador, oriundo do cromossomo 6. Os sinais clínicos descritos na paciente foram semelhan... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The ACs are visible changes in the chromosomes, classified as numerical and structural. Currently the great challenge of clinical genetics is to classify and associate the clinical relevance of genetic imbalances with the phenotype of the carriers. The main objective of this work is to characterize genomic imbalance without syndromic diagnosis previously described by the classical and molecular cytogenetic techniques, in order to determine the breakpoints and genes inserted in the chromosomal region altered by cytogenetics in case studies. Cytogenetics (GTG banding), molecular cytogenetics (FISH) and cytogenetics (array-CGH) were performed in three patients with non-syndromic congenital malformations for diagnostic definition and greater knowledge on genotype-phenotype correlation. Case studies of three patients with MCs, developmental delay and intellectual disability were written. The first case file is a female patient with skeletal anomalies, intellectual disability and developmental delay. The patient's karyotype is 46, XX [11] / 47, XX, + sea [9]. The array-CGH analysis revealed two gains / doublings in the chromosomal bands 6p11.2q12 (10,335 Mb in size) and 6q14.1q14.3 (10,765 Mb in size). Through the FISH technique and the results of the array-CGH the duplicate region 6q14.1q14.3 is inserted in a chromosome marker, coming from chromosome 6. The clinical signs described in the patient were similar to other patients with duplication of the region 6q14. The genes PGM3, M... (Complete abstract click electronic access below) / Mestre

Germline mutations in mismatch repair genes predispose individuals to Lynch Syndrome, the most common colorectal cancer predisposition syndrome. MLH1 is a key mismatch repair gene that is mutated in Lynch syndrome and about a third of the genetic alterations identified in MLH1 are missense variants of unclassified clinical significance. We hypothesize that missense alterations in distinct domains of MLH1 likely affect its expression and function(s) to varying degrees. To address this we utilized several approaches to investigate the molecular basis of the pathogenicity of a panel of unclassified variants. Our results demonstrate that the MLH1 variants p.R265C and p.K618A significantly decrease the stability of the MLH1 protein, while the variant p.L749Q compromises heterodimerization of the MLH1-PMS2 complex. Given the limitations and complexity of in vitro assessment strategies, we conducted a proof-of-principle study to investigate whether missense variants in MLH1 lead to allelic imbalances at the transcriptional level. Our analysis using the PeakPicker software indicated that the missense variants c.350C>T, c.793C>T, c.1852_1853AA>GC, as well as the truncating variant c.1528C>T were associated with significantly unbalanced allelic expression. This illustrates a novel method of investigating the pathogenicity of unclassified genetic variants, which has the potential to be applied in the diagnostic setting. Previous genetic epidemiology studies from our laboratory have demonstrated that the MLH1 c.-93G>A promoter variant is strongly associated with the microsatellite instability phenotype in colorectal tumours. Additionally, this promoter variant was associated with an elevated risk of endometrial cancer in case-control studies. Results from our functional studies indicate that the c.-93G>A variant significantly alters the promoter activity of MLH1. The MLH1 promoter is bi-directional with the EPM2AIP1 gene located on the antisense strand. Interestingly, we observed that this variant significantly affected EPM2AIP1 transcription as well. Furthermore, our experiments suggest that c.-93G>A variant affects transcription by altering the affinity of nuclear factors that bind this region. Combined, these findings shed light on the possible mechanisms by which missense variants affect MLH1 expression and function, which in conjunction with results from other functional assays will help increase the accuracy and efficiency of genetic testing of inherited cancers.

Germline mutations in mismatch repair genes predispose individuals to Lynch Syndrome, the most common colorectal cancer predisposition syndrome. MLH1 is a key mismatch repair gene that is mutated in Lynch syndrome and about a third of the genetic alterations identified in MLH1 are missense variants of unclassified clinical significance. We hypothesize that missense alterations in distinct domains of MLH1 likely affect its expression and function(s) to varying degrees. To address this we utilized several approaches to investigate the molecular basis of the pathogenicity of a panel of unclassified variants. Our results demonstrate that the MLH1 variants p.R265C and p.K618A significantly decrease the stability of the MLH1 protein, while the variant p.L749Q compromises heterodimerization of the MLH1-PMS2 complex. Given the limitations and complexity of in vitro assessment strategies, we conducted a proof-of-principle study to investigate whether missense variants in MLH1 lead to allelic imbalances at the transcriptional level. Our analysis using the PeakPicker software indicated that the missense variants c.350C>T, c.793C>T, c.1852_1853AA>GC, as well as the truncating variant c.1528C>T were associated with significantly unbalanced allelic expression. This illustrates a novel method of investigating the pathogenicity of unclassified genetic variants, which has the potential to be applied in the diagnostic setting. Previous genetic epidemiology studies from our laboratory have demonstrated that the MLH1 c.-93G>A promoter variant is strongly associated with the microsatellite instability phenotype in colorectal tumours. Additionally, this promoter variant was associated with an elevated risk of endometrial cancer in case-control studies. Results from our functional studies indicate that the c.-93G>A variant significantly alters the promoter activity of MLH1. The MLH1 promoter is bi-directional with the EPM2AIP1 gene located on the antisense strand. Interestingly, we observed that this variant significantly affected EPM2AIP1 transcription as well. Furthermore, our experiments suggest that c.-93G>A variant affects transcription by altering the affinity of nuclear factors that bind this region. Combined, these findings shed light on the possible mechanisms by which missense variants affect MLH1 expression and function, which in conjunction with results from other functional assays will help increase the accuracy and efficiency of genetic testing of inherited cancers.

Carcinogenesis is a progressive process involving multiple genetic alterations in tumor cells and complex interactions in the tumor-host microenvironment. To better understand the contribution of molecular alterations in tumor cells and stromal variables to the development of colorectal cancer (CRC) and identify prognostic factors, in this study we examined the clinicopathological and biological significance of stromal variables, including particularly interesting new cysteine-histidine rich protein (PINCH), inflammatory infiltration, angiogenesis and lymphangiogenesis, as well as hRAD50/hMRE11/hNBS1 proteins and hRAD50 mutation in tumor cell in CRC. PINCH protein expression in the stroma was increased from normal mucosa to primary tumors and further to lymph node metastases. In particular, PINCH expression was most intense at the tumor invasive margin, which was related to low inflammatory infiltration and independently related to an unfavorable prognosis. Low inflammatory infiltration at the tumor invasive margin was related to advanced tumor stage, worse differentiation and microsatellite instability (MSI). Further, it was independently related to an unfavorable prognosis. Increased blood and lymphatic vessel density was observed in the primary tumors compared with the corresponding normal mucosa. However, neither angiogenesis nor lymphangiogenesis was associated with tumor stage and patients’ survival. Moreover, PINCH was present in a proportion of endothelial cells of the tumor vasculature, and PINCH expression in tumor-associated stroma was positively related to blood vessel density. In primary tumor cells of CRC, strong expression of hRAD50, hMRE11 or hNBS1 was related to microsatellite stability (MSS). A high percentage of hMRE11 expression was associated with less local recurrence and high apoptotic activity. Further, we observed that the expression of hRAD50, hMRE11 or hNBS1 among normal mucosa, primary tumors and metastases in MSS CRC differed from that in MSI CRC. In MSS CRC, the expression intensity of hRAD50, hMRE11 and hNBS1 was consistently increased with respect to normal mucosa, but there was no difference between the primary tumors and metastases. In the primary MSS tumors, the expression of individual or combination of hRAD50/hMRE11/hNBS1 was associated with a favorable prognosis in the same series of the CRCs. Moreover, strong/high hRAD50 in MSS primary tumors was related to earlier tumor stage, better differentiation and high inflammatory infiltration, whereas strong hNBS1 expression tended to be independently related to a favorable prognosis in MSS CRC with earlier tumor stage. However, in MSI CRC, there were neither differences in the expression of hRAD50/hMRE11/hNBS1 among normal mucosa, primary tumors and metastases, nor any association of the protein expressions with clinicopathological variables. On the other hand, frameshift mutations of (A)9 at coding region of hRAD50 were only found in MSI CRC. Our study indicates that 1) PINCH is likely a regulator of angiogenesis, and PINCH expression at the tumor invasive margin is an independent prognostic indicator in CRC. 2) Inflammatory infiltration at the tumor invasive margin is also an independent prognostic indicator in CRC. The lack of association between high inflammatory infiltration and MSI may help to explain the non-association of MSI with survival in CRC patients. 3) Angiogenesis and lymphangiogenesis occur in the early stage of CRC development, but do not associate with CRC progression and patients’ prognosis. 4) hRAD50/hMRE11/hNBS1 may act dependently and independently, playing different roles in MSS and MSI CRC development. In MSS CRC, the strong expression of the three proteins, associated with a favorable prognosis, may present the cellular response against tumor progression. Expression of hNBS1 may be a prognostic indicator for MSS CRC patients in the earlier tumor stage. In MSI CRC, the frameshift mutations at the coding region of hRAD50 may contribute to tumor development.

The formation of microstructural alterations in bearing steels under rolling contact fatigue (RCF) is systematically studied. A literature review summarizes current understanding in this field, leading to the key to the formation of these microstructural features being carbon redistribution as a consequence of cyclic rolling contact. In this context, a novel theory is postulated to describe the migration of carbon caused by gliding dislocations. The theory combines the Cottrell atmosphere theory with the Orowan equation and is capable of quantifying the dislocation-assisted carbon flux. Based on the proposed theory, models are suggested for different types of microstructural alterations formed in rolling contact fatigued bearings – dark etching regions (DERs), white etching bands (WEBs) and white etching areas (WEAs). Very good agreement is obtained between the predications made by the models and the experimental data from both this research and the literature. Moreover, the models consider the effects of contact pressure, temperature, rotational speed and number of cycles, and thus can be applied for universal RCF testing conditions. The reproduced microstructural features are also characterized using advanced characterization techniques such as scanning electron microscopy (SEM), transmission electron microscopy (TEM) and atom probe tomography (APT), with the observation validating the postulated formation mechanisms. It is demonstrated that DERs, WEBs and WEAs follow the same principle during formation – strain induced carbon redistribution. This is the first time that these microstructural alterations are quantitatively described using a unified theory. The achievements obtained from this research can be far reaching. It not only leads to great progress in understanding the phenomenology of RCF in bearing steels, but also can be further extended to other scenarios with similar phenomena such as severe plastic deformation and hydrogen embrittlement.

Made available in DSpace on 2015-07-22T20:49:44Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-03-31 / O presente estudo teve como objetivo utilizar um procedimento de “Coaching” (processo que se utiliza de estratégias de metas, ações direcionadas e contingências, a partir dos recursos pessoais do próprio indivíduo, que é incentivado a produzir os resultados desejados em sua vida), visando a melhora da imagem corporal de mulheres obesas insatisfeitas com o seu aspecto físico. Participaram 40 mulheres com idade entre 22 e 63 anos, obesas, que não apresentavam transtornos neurológicos ou psiquiátricos, sem acompanhamento psicoterápico ou psiquiátrico. Os instrumentos de “coaching” utilizados para avaliar as voluntárias foram: escalas analógicas (aspectos físicos e psíquicos), estabelecimento de metas e valores (visa identificar o motivo que leva o individuo a se submeter ao plano de tratamento) e o plano de ação (o indivíduo determina as estratégias para o alcance da meta desejada). Os aspectos psicológicos como depressão e ansiedade foram avaliados com o uso dos inventários de depressão e ansiedade de Beck, a compulsão alimentar foi avaliada através da escala alimentar periódica e a imagem corporal através da escala de desenhos de silhuetas. Parâmetros como o perfil bioquímico, peso corporal, índice de massa corporal e as medidas de cintura e quadril foram também considerados. Todos os procedimentos foram avaliados antes e após 10 meses de intervenção. Os resultados evidenciaram redução dos graus de ansiedade (leve para mínimo) e da intensidade da compulsão alimentar (moderada para leve). As voluntárias mostraram-se mais satisfeitas com a própria imagem corporal: aspecto físico (ruim para regular), psicológico (regular para bom) e com a significativa redução das medidas corporais: peso (-3,6 kg), IMC (-1,3 Kg/m²), cintura (-3,6 cm) e quadril (-3,0 cm). / The purpose of this study is to use and evaluate coaching as a procedure to improve the body image of obese woman who are dissatisfied with certain aspects of their physical aspects. Coaching is a process that uses goal strategies, direct actions, contingencies, utilizes personal traits and encourages the individual to produce the desired results in ones life. The subjects were 40 women, aged between 22 and 63 years old with refractory obesity, who had not presented signs of neurological or psychiatric disorders, and were not receiving psychotherapeutic or psychiatric monitoring. The coaching instruments employed to assess the volunteers were: visual analogue scales (appraisal of physical and psychological state), goal setting and definition of values (to identify the rationale for the individual before undergoing the treatment plan) and an action plan (the individual determines the strategies for reaching the desired target). The psychological aspects were evaluated by administering the Beck Depression and Anxiety Inventories. The Binge Eating Scale questionnaire assesses the presence of binge eating behavior and figural stimuli were used for assessment. Parameters such as biochemical, body weight, body mass index, waist, and hip measurements were also considered. They were evaluated before the commencement of the procedure and after 10 months of intervention. The results indicated a reduction in the levels of anxiety (mild to minimal) and the intensity of the compulsion to eat (moderate to mild). The volunteers showed that they had become more satisfied with their body image: physical aspects (poor to fair), psychological (fair to good) and achieved a significant reduction in their body measurements: weight (- 3.6 kg), BMI (-1.3 kg/m²), waist (- 3.6 cm) and hip (- 3.0 cm).ty. / TEDE

Made available in DSpace on 2016-12-23T13:49:05Z (GMT). No. of bitstreams: 1 Thatiane Batista Batista.pdf: 1969781 bytes, checksum: d2932f0b966a1381463133019033ad7f (MD5) Previous issue date: 2012-03-02 / Chronic renal failure (CRF) is increasingly common in the population and involves the irreversible loss of kidney function necessitating treatment of renal replacement therapy. The most common is hemodialysis that performs a bypass filtration, removing fluids and toxins from the blood of the patient. But this process does not physiological causes an increase in oxidative stress and complications such as diseases of morbidity and mortality among them the cardiovascular disease and cancer. For a reduction in the frequency of these diseases is achieved the use of vitamins is necessary because the nutritional status affects the development of these diseases. The aim of this study was to examine the genotoxicity and cytotoxicity in chronic renal patients using the micronucleus assay in lymphocytes and buccal mucosa cells after vitamin supplementation by folic acid and vitamins E, C and B12. There were 16 voluntary patients provided that each of the three samples for each test, a sample was received before supplementation and during the treatment, after one and two months of use of vitamins. In the assay of lymphocytes with blocking cytokinesis (CBMN) were analyzed nuclear buds, nucleoplasmic bridges and micronuclei in binucleated cells, and nuclear division index. Already in the cells of mucosa were binucleated cells, mononucleated and apoptosis, karyolysis, micronucleus and broken egg. The results show that the frequency of nuclear abnormalities was reduced with the use of vitamins in two trials, and in some assessments there were no statistical differences. In addition, were found gender differences in behavior of supplementation. This study provides evidence that vitamin use by patients with chronic renal failure was associated with reductions in nuclear changes evaluated, which may contribute to better quality of life for these patients / A insuficiência renal crônica (IRC) é cada vez mais frequente na população e implica na perda irreversível das funções renais, o que torna necessário um tratamento de terapia renal substitutiva. A mais comum é a hemodiálise, que realiza uma filtração extracorpórea, removendo líquidos e toxinas do sangue do paciente. Porém, esse processo não fisiológico promove um aumento do estresse oxidativo e de complicações como doenças de morbimortalidade, dentre elas a doença cardiovascular e o câncer. Para que uma redução na frequência dessas doenças seja alcançada a utilização de vitaminas se faz necessária já que o estado nutricional interfere para o desenvolvimento dessas doenças. O objetivo desse estudo foi analisar a genotoxicidade e citotoxicidade em pacientes renais crônicos utilizando o ensaio do micronúcleo em linfócitos e células da mucosa bucal após a suplementação vitamínica por ácido fólico, e vitaminas E, C e B12. Dezesseis pacientes voluntários forneceram, cada um, três amostras para cada ensaio, uma amostra foi antes de receberem a suplementação e duas durante o tratamento, após um e dois meses de utilização das vitaminas. No ensaio dos linfócitos com bloqueio de citocinese (CBMN) foram analisados brotos, pontes nucleoplasmática e micronúcleos em células binucleadas, além do índice de divisão nuclear. Já nas células da mucosa foram analisadas células binucleadas, e as mononucleadas em apoptose, cariólise, com micronúcleos e broken egg. Os resultados obtidos demonstram que a frequência das alterações nucleares foi reduzida com a utilização das vitaminas, nos dois ensaios, sendo que algumas avaliações não tiveram diferenças estatísticas. Além disso, foram encontradas diferenças de comportamento dos gêneros frente à suplementação. Este trabalho fornece evidências de que a utilização vitamínica, pelos pacientes renais crônicos, foi associada a reduções das alterações nucleares avaliadas, o que pode contribuir para melhor qualidade de vida desses indivíduos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / O sobrepeso e a obesidade na adolescência atingiram proporções epidêmicas na maior parte dos países industrializados bem como as alterações no metabolismo da glicose e dos triglicérides. As alterações no perfil do estado nutricional têm sido acompanhadas no aumento do consumo de bebidas açucaradas por adolescentes nos últimos anos. Algumas revisões sistemáticas recentes identificaram que o consumo de bebidas açucaradas associa-se ao ganho de peso entre a população em geral, inclusive em adolescentes e o efeito de tais bebidas vem sendo demonstrado não só na ocorrência do sobrepeso e obesidade, como também em associação com alterações metabólicas, hipertensão, esteatose e a ocorrência de diabetes tipo 2. Um efeito plausível do aumento no consumo de bebidas açucaradas seria a alteração nos triglicérides e no controle glicêmico, mas somente dois estudos seccionais, em adolescentes americanos, foram encontrados e ambos concluíram pelo efeito deletério do consumo de tais bebidas nesses parâmetros metabólicos. A presente tese teve como objetivo realizar uma revisão bibliográfica sobre consumo de bebidas açucaradas e alterações metabólicas em adolescentes. E avaliar essa associação em uma amostra probabilística de escolares da cidade de Niterói, RJ, com 610 adolescentes de 12 a 19 anos. Na revisão foram resgatados apenas dois artigos. No primeiro encontrou-se que para cada porção adicional de bebidas açucaradas consumidas por dia, houve aumento de 7% nos valores de HOMA-IR, aumento de 2,25mg/dL nas concentrações de triglicérides, diminuição de 0,73mg/dL de HDL-C nas meninas e redução de 0,35mg/dL de HDL-C nos meninos (p-valor<0,05). No segundo, foi observada uma tendência das bebidas açucaradas a explicar 2,4% da variância em AIR (&#946;=-0,219, p-valor=0,07), sem diferença entre os sexos. Com relação às analises apresentadas com os adolescentes da cidade de Niterói, as meninas apresentaram, em média, menor consumo de bebidas açucaradas do que os meninos (222 vs. 262mL), sendo a prevalência de consumo diário acima de 75% para ambos os sexos. A ingestão total de calorias e carboidratos entre os meninos que consomem bebidas açucaradas foi maior comparada aos que não consomem (2.183 vs. 2.787kcal e 286,3 vs. 376,6g; respectivamente). No modelo final de regressão, o consumo de bebidas açucaradas apresentou uma associação positiva, apenas para triglicérides, nos meninos após ajuste por idade, IMC, energia e carboidrato, (&#61538;=0,06; p=0,04). Em conclusão, tanto na revisão da literatura, quanto na análise dos dados, encontrou-se associação positiva entre o consumo de bebidas açucaradas e alterações metabólicas / Overweight and obesity among adolescents, as well as changes in the metabolism of glucose and triglycerides, have reached epidemic proportions in most industrialized countries. Changes in nutritional status have been followed by increased consumption of sugar beverages. Some systematic reviews have identified that the consumption of sugar beverages is associated with weight gain among general population, including adolescents. The effect of these beverages seems to influence not only the occurrence of overweight and obesity, but also in other diseases associated to obesity, as hypertension, hepatic steatosis and occurrence of type 2 diabetes. A reasonable effect of the increase in the sugar drink consumption would be the alteration in triglicérides and the glicêmico control, but two studies you only part, in American adolescents, had been found and both had concluded for the deleterious effect of the consumption of such drinks in these metabolic parameters.The present thesis had as objective to carry through a bibliographical revision on sugar drink consumption and metabolic alterations in adolescents. E to evaluate this association in pertaining to school a probabilist sample of the city of Niterói, Rio de Janeiro, with 610 adolescents of 12 the 19 years. In the revision only two articles had been rescued. In the first one one met that for each additional portion of sugar drinks consumed per day, it had increase of 7% in the values of HOMA-IR, increase of 2,25mg/dL in the concentrations of triglicérides, reduction of 0,73mg/dL of HDL-C in the girls and reduction of 0,35mg/dL of HDL-C in the boys (p-valor<0,05). In as, insulin was observed a trend of sugar drinks to explain 2.4% of the variance in AIR - Acute response (&#946;=-0,219, p-valor=0,07), without difference between the sexos. With the adolescents of the city of Niterói, girls reported, on average, a lower sugar beverage consumption than boys (222 vs. 262mL), and the prevalence of daily consumption was grether than 75% for both sexes. Boys who drink sugar beverages presented higher energy and carbohydrates intakes than those who did not drink sweetened beverages (2.183 vs. 2.787kcal and 286.3 vs. 376.6 g, respectively). In the final regression model the consumption of sweetened beverages showed a positive association only for triglycerides in boys, after adjusting for age, BMI, energy and carbohydrate inatke, (&#61538;= 0.06, p = 0.04). In conclusion, both the literature reviewed and the data analysis from adolescents of Niterói revealed a positive association between sugar beverage consumption and metabolic changes