80 resultados para Predisposição genética para doença


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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Although it has been suggested that retinal vasculature is a diffusion-limited aggregation (DLA) fractal, no study has been dedicated to standardizing its fractal analysis . The aims of this project was to standardize a method to estimate the fractal dimensions of retinal vasculature and to characterize their normal values; to determine if this estimation is dependent on skeletization and on segmentation and calculation methods; to assess the suitability of the DLA model and to determine the usefulness of log-log graphs in characterizing vasculature fractality . To achieve these aims, the information, mass-radius and box counting dimensions of 20 eyes vasculatures were compared when the vessels were manually or computationally segmented; the fractal dimensions of the vasculatures of 60 eyes of healthy volunteers were compared with those of 40 DLA models and the log-log graphs obtained were compared with those of known fractals and those of non-fractals. The main results were: the fractal dimensions of vascular trees were dependent on segmentation methods and dimension calculation methods, but there was no difference between manual segmentation and scale-space, multithreshold and wavelet computational methods; the means of the information and box dimensions for arteriolar trees were 1.29. against 1.34 and 1.35 for the venular trees; the dimension for the DLA models were higher than that for vessels; the log-log graphs were straight, but with varying local slopes, both for vascular trees and for fractals and non-fractals. This results leads to the following conclusions: the estimation of the fractal dimensions for retinal vasculature is dependent on its skeletization and on the segmentation and calculation methods; log-log graphs are not suitable as a fractality test; the means of the information and box counting dimensions for the normal eyes were 1.47 and 1.43, respectively, and the DLA model with optic disc seeding is not sufficient for retinal vascularization modeling

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The aim of the present study was to assess the presence of depressive symptomatology among elderly residents in long-stay institutions (LSI) and in the community of Recife, Brazil. In total, 81 long-stay elderly patients (mean age of 75.55 ± 9.18 years) and 132 elderly (mean age of 73.14 ± 8.27 years) individuals from the community were evaluated. Depressive symptomatology was assessed by the Geriatric Depression Scale (GDS-15), cognitive status by the Mini Mental State Examination (MMSE) and capacity to perform the activities of daily living (ADL) by the Katz Index. Comorbities and the use of medication were recorded. The LSI elderly exhibited more depressive symptoms (p < 0.001) and more dependency (p< 0.001). We observed no differences in MMSE (p = 0.058). The elderly in the community displayed more comorbidities and the LSI elderly consumed more medication (p < 0.001 and p < 0.001, respectively). According to multivariate analysis (logistic regression), being male, having no spouse and having a low schooling level are risk factors for depressive symptoms. In conclusion, most elderly with depressive symptoms received no medication fordepression.

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A escassez de instrumentos para a avaliação e a triagem da doença de Alzheimer, (DA), notadamente denominados de rastreio, com características de padronização e validados para o Nordeste, motivou este Estudo. Visando à triagem de uma etapa mais leve da doença e encaminhamento precoce ao tratamento multidisciplinar foi elaborado o Teste de Rastreio da Doença de Alzheimer com Provérbios (TRDAP), a partir de um Jogo de Memória de Provérbios, construído como recurso terapêutico ocupacional. Está composto de três etapas conforme a função neuropsicológica avaliada, a A (memória de curto prazo), B (funções executivas e linguagem) e C (memória episódica), além do reconhecimento de provérbios. O Estudo foi realizado em uma amostra de conveniência, com 91 idosos (28 DA e 63 controles), a partir de 60 anos, com um ou mais anos de escolaridade. Foram controladas as variáveis, como doenças intercorrentes ou déficits sensoriais que pudessem comprometer o desempenho dos pacientes, nos testes. O protocolo constou de oito testes selecionados por especialistas: Miniexame do Estado Mental (para validade convergente), Escala de Depressão Geriátrica EDG (validade discriminante), Lista de Palavras, Fluência Verbal, Span de Dígitos, Figura Neuropsi, Teste do Relógio, Atividade de Vida Diária e Instrumental. Os resultados confirmaram a validade de construto convergente e discriminante, assim como a relação significativa (p<0,005) com todos os testes, exceto com o EDG. Quanto à validade concorrente, não houve discordância com o critério da avaliação médica observou-se consistência interna aceitável, conferindo confiabilidade no instrumento, o que não ocorreu com MEEM. Tais resultados permitem afirmar que o TRDAP possui características psicométricas, adequadas ao rastreio da fase leve da DA para população estudada

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The dyslipidemia and excess weight in adolescents, when combined, suggest a progression of risk factors for cardiovascular disease (CVD). Besides these, the dietary habits and lifestyle have also been considered unsuitable impacting the development of chronic diseases. The study objectives were: (1) estimate the prevalence of lipid profile and correlate with body mass index (BMI), waist circumference (WC) and waist / height ratio (WHR) in adolescents, considering the maturation sexual, (2) know the sources of variance in the diet and the number of days needed to estimate the usual diet of adolescents and (3) describe the dietary patterns and lifestyle of adolescents, family history of CVD and age correlates them with the patterns of risk for CVD, adjusted for sexual maturation. A cross-sectional study was performed with 432 adolescents, aged 10-19 years from public schools of the Natal city, Brazil. The dyslipidemias were evaluated considering the lipid profile, the index of I Castelli (TC / HDL) and II (LDL / HDL) and non-HDL cholesterol. Anthropometric indicators were BMI, WC and WHR. The intake of energy, nutrients including fiber, fatty acids and cholesterol was estimated from two 24-hour recalls (24HR). The variables of lipid profile, anthropometric and clinical data were used in the models of Pearson correlation and linear regression, considering the sexual maturation. The variance ratio of the diet was calculated from the component-person variance, determined by analysis of variance (ANOVA). The definition of the number of days to estimate the usual intake of each nutrient was obtained by taking the hypothetical correlation (r) ≥ 0.9, between nutrient intake and the true observed. We used the principal component analysis as a method of extracting factors that 129 accounted for the dependent variables and known cardiovascular risk obtained from the lipid profile, the index for Castelli I and II, non-HDL cholesterol, BMI, and WC the WHR. Dietary patterns and lifestyle were obtained from the independent variables, based on nutrients consumed and physical activity weekly. In the study of principal component analysis (PCA) was investigated associations between the patterns of cardiovascular risk factors in dietary patterns and lifestyle, age and positive family history of CVD, through bivariate and multiple logistic regression adjusted for sexual maturation. The low HDL-C dyslipidemia was most prevalent (50.5%) for adolescents. Significant correlations were observed between hypercholesterolemia and positive family history of CVD (r = 0.19, p <0.01) and hypertriglyceridemia with BMI (r = 0.30, p <0.01), with the CC (r = 0.32, p <0.01) and WHR (r = 0.33, p <0.01). The linear model constructed with sexual maturation, age and BMI explained about 1 to 10.4% of the variation in the lipid profile. The sources of variance between individuals were greater for all nutrients in both sexes. The reasons for variances were  1 for all nutrients were higher in females. The results suggest that to assess the diet of adolescents with greater precision, 2 days would be enough to R24h consumption of energy, carbohydrates, fiber, saturated and monounsaturated fatty acids. In contrast, 3 days would be recommended for protein, lipid, polyunsaturated fatty acids and cholesterol. Two cardiovascular risk factors as have been extracted in the ACP, referring to the dependent variables: the standard lipid profile (HDL-C and non-HDL cholesterol) and "standard anthropometric index (BMI, WC, WHR) with a power explaining 75% of the variance of the original data. The factors are representative of two independent variables led to dietary patterns, "pattern 130 western diet" and "pattern protein diet", and one on the lifestyle, "pattern energy balance". Together, these patterns provide an explanation power of 67%. Made adjustment for sexual maturation in males remained significant variables: the associations between puberty and be pattern anthropometric indicator (OR = 3.32, CI 1.34 to 8.17%), and between family history of CVD and the pattern lipid profile (OR = 2.62, CI 1.20 to 5.72%). In females adolescents, associations were identified between age after the first stage of puberty with anthropometric pattern (OR = 3.59, CI 1.58 to 8.17%) and lipid profile (OR = 0.33, CI 0.15 to 0.75%). Conclusions: The low HDL-C was the most prevalent dyslipidemia independent of sex and nutritional status of adolescents. Hypercholesterolemia was influenced by family history of CVD and sexual maturation, in turn, hypertriglyceridemia was closely associated with anthropometric indicators. The variance between the diets was greater for all nutrients. This fact reflected in a variance ratio less than 1 and consequently in a lower number of days requerid to estimate the usual diet of adolescents considering gender. The two dietary patterns were extracted and the pattern considered unhealthy lifestyle as healthy. The associations were found between the patterns of CVD risk with age and family history of CVD in the studied adolescents

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Congenital generalized lipodystrophy is a rare genetic disease with autosomal recessive inheritance characterized by the generalized absence of subcutaneous adipose tissue and insulin resistance. The aim of our study was to determine the profile of patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) through their clinical history, eating habits, and socioeconomic and cultural aspects; assess food consumption and nutritional status of the study group; propose and evaluate a diet therapy model associated to oral supplementation with zinc to help in the control and prevention of metabolic complications associated to the pathology. Initial assessment of food consumption indicated a voracious appetite in all the patients studied. The introduction of zinc reduced appetite, contributing to patient adherence to the food plan proposed. It was also observed that the proposed diet contributed mainly to glycidic control, specifically with respect to HbA1c. The nutritional status of the patients investigated was adequate in terms of body mass index (BMI), arm muscle circumference (AMC), arm muscle area AMA, but triceps skinfold (TSF) indicated serious malnutrition. Our study is unique in the literature and provides important information to the field of nutrition and to individuals with this pathology. Furthermore, it contemplates the interdisciplinary and multidisciplinary requirements of the Postgraduate Program in Health Sciences of the Federal University of Rio Grande do Norte (UFRN), Natal, Brazil

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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O Activities daily living questionnaire - ADLQ foi elaborado para avaliar atividades básicas e instrumentais em pacientes com a doença de Alzheimer. O objetivo principal deste estudo consistiu em realizar a tradução do ADLQ para a língua portuguesa, adaptação transcultural e análise das suas propriedades psicométricas. A amostra foi composta por 60 pacientes e os respectivos 60 cuidadores. O estudo iniciou-se com a tradução do instrumento pela técnica de retrotradução associada ao método bilíngüe. A versão traduzida foi respondida pelo cuidador e o Mini Exame do Estado Mental (MEEM) aplicado ao paciente. A análise psicométrica foi realizada através da validade das medidas do instrumento. Os resultados verificaram uma correlação inversamente significativa (r=-0,793;p<0,05) entre os instrumentos avaliados, com uma explicação da variância total de 62%. A coerência interna do instrumento foi realizada através da correlação com os resultados do MEEM sugerindo uma versão condensada do ADLQ. Avaliando-se através do teste t para amostras correlacionadas, as médias do ADLQ-versão traduzida e versão condensada não apresentaram diferenças significativas, demonstrado assim que a simplificação do instrumento não alterou os valores do nível de dependência funcional observados. A análise fatorial realizada através da rotação Varimax indicou seis dimensões. Atividades como; comer, vestir-se, banho, necessidades fisiológicas, tomar comprimidos, participação em grupos, administrar finanças, manusear dinheiro, locomover pela vizinhança, usar telefone, compreensão, dentre outras, são os mais importantes preditores da capacidade funcional, no grupo estudado. Atividades com desempenho pouco comum a ambos os sexos, e no desempenho de papéis sociais enquanto gênero na sociedade brasileira (afazeres domésticos, consertos e manutenção em casa), na amostra estudada, não demonstraram ter importância na determinação da capacidade funcional com o paciente com a Doença de Alzheimer. O presente estudo disponibiliza uma nova ferramenta de avaliação funcional, visando contribuir para a mensuração mais cuidadosa do estado funcional do paciente por todos os profissionais da área da saúde

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Cinquenta amostras de camarão fresco e refrigerado (Litopenaeus vannamei) foram coletadas em diferentes pontos de comercialização na cidade de Natal RN. As amostras foram maceradas em um gral estéril e 25 gramas semeadas em 225mL de APA contendo 1% de NaCl e 25g em 225mL de CL incubadas a 35ºC - 24 horas. O crescimento em APA foi semeado em placas de Ágar TCBS, incubadas a 35ºC-24h para isolamento de Vibrio e Aeromonas. O crescimento do CL foi semeado em Agar EAM, para isolamento de coliformes. Dos 102 isolados, 91 (89,2%) pertenciam ao gênero Vibrio e 11 (10,8%) ao gênero Aeromonas, com predominância de V. cholerae não O1/não O139, V. alginolyticus, V. carchariae e V. parahaemolyticus K- e A. veronii biogrupo sobria , A. jandaei, A. schubertii, A. veronii biogrupo veronii e A. hydrophila. A menor eficiência entre os antimicrobianos foi da AMP (57,8% de resistência) seguida da AMK (29,4%) e TCY (21,6%). As 39 cepas de Vibrio e Aeromonas multirresistentes se distribuíram em 10 perfis distintos, sendo que um revelou cinco marcos (AMP, CHL, NIT, SXT e TCY) em um isolado de V. carchariae de camarão, adquirido em supermercados. O índice MAR, nas 39 cepas variou de 0,28 a 0,42, sugerindo que são de risco na transferência e difusão da resistência na cadeia alimentar. Após a cura plasmidial pelo tratamento com AO de 24 cepas multirresistentes e com resistência intermediária de víbrio e aeromonas escolhidas aleatoriamente, 13 perderam totalmente a resistência e 7 perderam parcialmente, sendo que o maior percentual de perda da resistência ocorreu nas cepas de V. cholerae não O1 e não O139 (6 cepas), se concentrando nos marcos de resistência a AMP (13), AMK (11), TCY(8) e CIP(3). Os resultados da conjugação realizada entre amostras de Vibrio xvi curadas e a E. coli K12C600 demonstraram que 78,5% das culturas de Vibrio testadas revelaram capacidade de transferência para o gene que confere resistência a AMP e 28,5% para a TCY. Dos coliformes, E. coli foi a mais frequente, seguida de Citrobacter spp, isoladas em 40,3% e 27,5% das amostras respectivamente. AMP foi o antimicrobiano menos eficaz, seguido de TCY. As 11 cepas multirresistentes se distribuíram em 9 perfis distintos, um deles constituído de cinco marcos (AMP, NIT, TCY, CHL, SXT), albergados em uma cepa de Klebsiella spp, oriunda de camarão adquirido em supermercado, similar ao resultado obtido em V. carchariae. Conclui-se que, os camarões marinhos frescos e refrigerados, comercializados em Natal-RN evidenciaram contaminação com coliformes, víbrios e aeromonas multirresistentes a antimicrobianos comumente utilizados na terapia médica e veterinária, e que, possivelmente, a transferência de genes de resistência entre bactérias se constitui um sério problema de saúde pública

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OBJECTIVE: Preeclampsia is a disease that can lead to a high maternal and infant morbidity. Worldwide, the incidence of this disease is highly variable and there is no data on this disorder in the Brazilian population. This study aimed at determining incidence and risk factors in the hypertensive disorders during pregnancy in a neighborhood of Natal, in addition to observing the evolution of these disorders one year and five years after delivery. METHODS: Prospective cohort study to assess the outcome of pregnancies of 242 women who became pregnant between 2004-2007 in the neighborhood of Bom Pastor in the city of Natal, state of RN, Brazil. Five years after delivery, there was an active search of thirty-nine (39) women who became pregnant and had a hypertensive disorder during pregnancy and/or pré-eclâmpsia, out of the total of 242 participants in the initial study. We administered a structured questionnaire to obtain basic information about the current clinical situation of patients and occurrences of subsequent pregnancy and presence of hypertensive disorders during pregnancy. We also searched for information on the use of hypotensive drugs and contraceptives. The following characteristics were checked and recorded: a) current weight, b) blood pressure c) body mass index - BMI, and we collected biological samples (blood and urine) for measurement of biochemical parameters and evaluation of microalbuminúria. Finally, we monitored the ambulatory blood pressure (ABP), which uses the method of automatic measurement of heart rate, systolic and diastolic blood pressure and an average of the two for the period of 24 hours. RESULTS: Out of 218 women who completed the study, the incidence of hypertensive disorders was of 16.9% (37 out of 218), while the incidence of preeclampsia was 13.8% (30 of 218). Women with preeclampsia had a BMI (body mass index) averaged of 25.3 (± 4.8) while this ratio in normotensive women was of 23.5 (± 3.7), p = 0.02. The risk of preeclampsia rises with age (OR 1084 p = 0.0034) and with a family history of hypertension (OR 2.6 p = 0.01). The follow-up one year after delivery revealed that 50% of women with hypertensive disorders in pregnancy remained hypertensive. High BMI was also observed after 5 years of delivery. CONCLUSIONS: an elevated BMI, age above 35 years and excessive weight gain during pregnancy were associated with hypertension in the long term in patients with prior preeclampsia. History of preeclampsia increases the risk of chronic hypertension

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The aim of the present study was to analyze cardiovascular risk of women with a history of preeclampsia, as well as its follow-upin the National Health System.This is a cross-sectional quantitative research conducted at the Januário Cicco Maternity School. The study population was composed of 573 women selected from a databank belonging to the Women s Health Research Group of the Gynecology Department at Universidade Federal do Rio Grande do Norte, with a history of preeclampsia, and normotensives who gave birth at this institution five years before. The final sample consisted of 147 women, 64 in the group with a history of PE and 83 normotensives. Data were collected on a questionnaire containing the following: sociodemographic aspects, anthropometric measures, life habits, personal and family history of pregnancy-induced hypertension, family history of cardiovascular diseases and frequency of measuring current blood pressure levels. In relation to the association between cardiovascular risk and altered blood pressure (≥130x85 mmHg), the likelihood of exhibiting the latter condition was significantly higher in women with a history of preeclampsia (CI 95% 4.12-38.92), the overweight and obese (CI 95% 1.70-20.75), and in those with a family historyof CVD and personal history of PIH (CI 95% 0.78-47.07 and CI 95% 3.20-25.39) respectively. Likewise, the probability of having altered blood pressure was higher in women with fasting glycemia ≥100mg/dL (CI 95% 2.09-24.73), as well as in those with triglycerides ≥150mg/dl (CI 95% 1.72-9.66). After fitting the logistic model, diagnosis previous preeclampsia and altered triglycerides remained as explanatory variables.The women with a history of preeclampsia five years before exhibited altered blood pressure levels, clinical and laboratory manifestations suggestive of elevated risk for cardiovascular disease, as well as family and personal history of hypertension. There is no differential treatment or adequate outpatient follow-up for this population in basic health care units

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Background. Gaucher Disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due to a deficiency of the enzyme acid β-glucosidase (GBA). Diagnosis is usually based on measurement of GBA activity in peripheral leukocytes. The purpose of this study was to evaluate the ability of screening for GBA and chitotriosidase activity using Dried Blood Spots on Filter Paper (DBS-FP) to identify individuals at high risk for GD in high-risk populations such as that of Tabuleiro do Norte, a small town in Northeastern Brazil. Methods. Between June 1, 2007 and May 31, 2008, 740 consented residents and descendants of traditional families from Tabuleiro do Norte were submitted to screening with DBS-FP. Subjects with GBA activity <2.19 nmol/h/mL were referred to analysis of GBA and chitotriosidase activity in peripheral leukocytes and in plasma, respectively. Subjects at highest risk for GD (GBA activity in peripheral leukocytes <5.6 nmol/h/mg protein) were submitted to molecular analysis to confirm diagnosis. Results. Screening with DBS-FP identified 135 subjects (18.2%) with GBA activity <2.19 nmol/h/mL, 131 of whom remained in the study. In 10 of these (7.6%), GBA activity in leukocytes was 2.6 5.5 nmol/h/mg protein. Subsequent molecular analysis confirmed 6 cases of heterozygosity and 4 normals for GD. Conclusion. DBS-FP assay was shown to be an effective initial GD screening strategy for high-prevalence populations in developing regions. Diagnosis could not be established from GBA activity in leukocytes alone, but required confirmation with molecular analysis

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As mucopolissacaridoses (MPS) são doenças genéticas raras decorrente da deficiência de enzimas lisossomais envolvidas no catabolismo de glicosaminoglicanos, resultando em um amplo espectro de manifestações clínicas, progressivas e multissistêmicas, exigindo tratamento por uma equipe multidisciplinar. Embora o Nordeste brasileiro seja uma região com grande taxa de consangüinidade e um efeito fundador envolvendo MPS, não há estudos caracterizando os pacientes dessa região. Nosso objetivo foi determinar o perfil epidemiológico, clínico e genético de casos não publicados com MPS provenientes do Ceará, identificando as diferenças entre outros estudos com MPS e possíveis problemas a serem enfrentados para a realização do diagnóstico precoce. O estudo foi seccional, descritivo, com amostra de pacientes com MPS em acompanhamento no Hospital Infantil Albert Sabin e Hospital Geral Cesar Cals no período de 2006-2013. Os dados foram obtidos a partir da avaliação clínica, revisão de prontuários médicos e entrevista com os pacientes e/ou familiares realizadas pelo investigador principal. Cinquenta e três pacientes foram incluídos no estudo (36 do sexo masculino), sendo 6 MPS I, 17 MPS II, 7 MPS III (3 MPSIII-A, 3 MPS III-B, 1 MPS III-C), 7 MPS IV-A, 16 de MPS VI. O óbito ocorreu em 16 casos (3 MPS I, MPS II 6, 1 MPS IIIA , IIIB 1MPS , 1 MPS IV , 4 MPS VI). A amostra foi composta principalmente por crianças. Houve elevada taxa de consangüinidade e recorrência familiar. Os tipos mais comuns foram MPS II e MPS VI. Exceto para macrossomia em MPS II, os dados de nascimento indicam que não houve risco para desenvolvimento de viii complicações perinatais. Os sintomas iniciaram em crianças com menos de 2 anos. As manifestações clínicas foram heterogêneas exceto para atraso no desenvolvimento neurológico em MPS III e manifestações esqueléticas em MPS IV. As principais características clínicas foram macrocefalia, baixa estatura, alterações odontológicas, respiratórias, cardíacas, hepatoesplenomegalia, hérnia umbilical, rigidez articular e anormalidades esqueléticas. A terapia de reposição enzimática foi instituída em 26 casos (4 MPS I, 10 MPS II, 12 MPS VI). Os problemas sócio-econômicos das famílias, o amplo espectro de sintomas e a gravidade da doença foram causas das dificuldades em realizar a avaliação periódica pela equipe multidisciplinar, além de exames complementares de maior custo para determinar as complicações da doença. Este foi o maior estudo transversal sobre MPS no Nordeste do Brasil. Em contraste com a maior incidência de MPS I na maioria das populações ocidentais, houve maior incidência de MPS II e VI. As alterações respiratórias foram um dos principais contribuintes para a mortalidade precoce, exceto nos casos de MPS I, em que a cardiomiopatia foi prevalente. A menor expectativa de vida ocorreu em MPS I. O envolvimento cognitivo foi comum em casos graves e o maior número de órgãos envolvidos representou maior risco de morrer. Para o diagnóstico precoce, deve-se buscar indivíduos afetados em famílias em que há parentes com MPS, além do maior reconhecimento de sinais e sintomas de MPS por profissionais de saúde

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