52 resultados para Doença da hemoglobina C- diagnóstico

em Universidade Federal do Rio Grande do Norte(UFRN)


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Detectar os principais achados fundoscópicos em crianças portadoras de hemoglobinopatias falciformes. Métodos: Foram estudados 26 pacientes com hemoglobinopatias falciformes, no Serviço de Oftalmologia do Hospital Universitário Onofre Lopes, Natal, RN, que foram submetidos a protocolo de pesquisa pré-estabelecido. Os resultados foram avaliados estatisticamente pelo teste qui-quadrado. Resultados: A idade média foi de 10,6 anos, com acuidade visual igual ou melhor que 20/25 na maioria, excetuando-se 3 olhos, que apresentavam outras doenças associadas. O tipo mais freqüente foi o SS com 57,7% (15/26) dos casos, seguido pelos SC e SA com 15,4% (4/26) cada, e pelo S-Thal com 11,5% (3/26). A freqüência da retinopatia por células falciformes foi maior após os 10 anos de idade, sendo mais freqüente, em valores relativos, no tipo S-Thal (100% dos casos) e, em valores absolutos, no tipo SS (9 casos). Os dois achados mais comuns foram tortuosidade venosa (12/26) e “black sunburst” (7/26). Conclusões: Observamos que a incidência de retinopatia por células falciformes aumentou após os 10 anos de idade e não evidenciamos achados da doença proliferativa. Portanto, enfatizamos a necessidade do exame oftalmológico precoce nos portadores de anemia falciforme, como forma de prevenir futuras complicações oculares

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Detectar os principais achados fundoscópicos em crianças portadoras de hemoglobinopatias falciformes. Métodos: Foram estudados 26 pacientes com hemoglobinopatias falciformes, no Serviço de Oftalmologia do Hospital Universitário Onofre Lopes, Natal, RN, que foram submetidos a protocolo de pesquisa pré-estabelecido. Os resultados foram avaliados estatisticamente pelo teste qui-quadrado. Resultados: A idade média foi de 10,6 anos, com acuidade visual igual ou melhor que 20/25 na maioria, excetuando-se 3 olhos, que apresentavam outras doenças associadas. O tipo mais freqüente foi o SS com 57,7% (15/26) dos casos, seguido pelos SC e SA com 15,4% (4/26) cada, e pelo S-Thal com 11,5% (3/26). A freqüência da retinopatia por células falciformes foi maior após os 10 anos de idade, sendo mais freqüente, em valores relativos, no tipo S-Thal (100% dos casos) e, em valores absolutos, no tipo SS (9 casos). Os dois achados mais comuns foram tortuosidade venosa (12/26) e “black sunburst” (7/26). Conclusões: Observamos que a incidência de retinopatia por células falciformes aumentou após os 10 anos de idade e não evidenciamos achados da doença proliferativa. Portanto, enfatizamos a necessidade do exame oftalmológico precoce nos portadores de anemia falciforme, como forma de prevenir futuras complicações oculares

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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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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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INTRODUCTION: The high sensitivity C-reactive protein (hsCRP) constitutes an inflammatory mediator used as predictor of cardiovascular risk that comes being researched as indicative relation factor between cardiovascular and periodontal diseases. PROPOSITION: To compare serumals levels of C-reactive protein between patients with and without generalized severe chronic periodontitis. METHODOLOGY: A seccional study was realized using a sample with 62 patients, being 31 participants carriers of periodontal diseases (Group I) and 31 without periodontal diseases (Group II), grouped to the pairs by age and sex. As inclusion criterio were selected patients with diagnosis of generalized severe chronic periodontitis, being preculeds, individuals which presented systemic disease, recent infection history, historical of CVA or stroke, smokers, pregnants and lactants. The research consisted of two stages, a clinc and other biochemist. The clinical stage is constituted of periodontal examination and the biochemist stage, of the peripheral blood collection for determination hsCRP levels and a hemogram to inquire any panel which could suggest infectious and/or inflammatory process. RESULTS: Periodontal disease group presented a average of 0,36mg/dL, while the group without disease presented 0,17 mg/dL, do not existing significant difference statistically between the averages (p = 0,061). The cardiovascular risk for the group I was classified high for 27,6% of participants and low for 72,4% of them. In the group II, 6,45% presented high risk e 93,5% low risk, being this significant relation statistically gotten for Fisher s Test (p = 0,042) presenting OR = 5,33; IC = 95% (1,02 27,4). The independets variables reseacred do not presented significant association statistically with the levels of hsCRP. CONCLUSION: The study indicated that despite of carriers patients of periodontal diseases do not present differents serumals levels of hsCRP from the other group, the periodontal disease was considered as risk factor for hsCRP plasmatic levels elevation

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Chronic Hepatitis C is the leading cause of chronic liver disease in advanced final stage of hepatocellular carcinoma (HCC) and of death related to liver disease. Evolves progressively in time 20-30 years. Evolutionary rates vary depending on factors virus, host and behavior. This study evaluated the impact of hepatitis C on the lives of patients treated at a referral service in Hepatology of the University Hospital Onofre Lopes - Liver Study Group - from May 1995 to December 2013. A retrospective evaluation was performed on 10,304 records, in order to build a cohort of patients with hepatitis C, in which all individuals had their diagnosis confirmed by gold standard molecular biological test. Data were obtained directly from patient charts and recorded in an Excel spreadsheet, previously built, following an elaborate encoding with the study variables, which constitute individual data and prognostic factors defined in the literature in the progression of chronic hepatitis C. The Research Ethics Committee approved the project. The results were statistically analyzed with the Chi-square test and Fisher's exact used to verify the association between variable for the multivariate analysis, we used the Binomial Logistic regression method. For both tests, it was assumed significance p < 0.05 and 95%. The results showed that the prevalence of chronic hepatitis C in NEF was 4.96 %. The prevalence of cirrhosis due to hepatitis C was 13.7%. The prevalence of diabetes in patients with Hepatitis C was 8.78 % and diabetes in cirrhotic patients with hepatitis C 38.0 %. The prevalence of HCC was 5.45%. The clinical follow-up discontinuation rates were 67.5 %. The mortality in confirmed cases without cirrhosis was 4.10% and 32.1% in cirrhotic patients. The factors associated with the development of cirrhosis were genotype 1 (p = 0.0015) and bilirubin > 1.3 mg % (p = 0.0017). Factors associated with mortality were age over 35 years, abandon treatment, diabetes, insulin use, AST> 60 IU, ALT> 60 IU, high total bilirubin, extended TAP, INR high, low albumin, treatment withdrawal, cirrhosis and hepatocarcinoma. The occurrence of diabetes mellitus increased mortality of patients with hepatitis C in 6 times. Variables associated with the diagnosis of cirrhosis by us were blood donor (odds ratio 0.24, p = 0.044) and professional athlete (odds ratio 0.18, p = 0.35). It is reasonable to consider a revaluation in screening models for CHC currently proposed. The condition of cirrhosis and diabetes modifies the clinical course of patients with chronical hepatitis C, making it a disease more mortality. However, being a blood donor or professional athlete is a protective factor that reduces the risk of cirrhosis, independent of alcohol consumption. Public policies to better efficient access, hosting and resolution are needed for this population.

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A síndrome de Cogan é entidade multissistêmica rara caracterizada por ceratite intersticial associada à disfunção áudio-vestibular e possível surdez irreversível classificada em duas formas clínicas: típica e atípica. Há discordância na literatura quanto à presença de acometimento corneano na forma atípica. Uma paciente de 32 anos queixando-se de hiperemia e dor ocular, fotofobia e baixa da acuidade visual no olho direito, associada à perda súbita de audição à esquerda, vômitos, diarréia, oligúria, dor na orofaringe e febre. História prévia de semelhante acometimento do olho esquerdo e audição direita. Havia intensa hiperemia conjuntival, esclerite nodular, episclerite e infiltrados circulares no estroma corneano. A paciente recebeu pulsoterapia com metilprednisolona e ciclofosfamida. Evoluiu com grande melhora ocular, porém com resposta auditiva pobre. O caso reportado pode constituir forma típica da síndrome de Cogan (de acordo com autores que defendem o nãoacometimento corneano na forma atípica) com alguns achados característicos da forma atípica ou um caso da forma atípica da síndrome de Cogan (para aqueles que defendem o acometimento corneano na forma atípica). O diagnóstico diferencial também é discutido

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O adenocarcinoma pancreático é um dos tumores sólidos de pior prognóstico, sendo o tratamento cirúrgico o único potencialmente curativo. Na grande maioria dos pacientes o tumor é diagnosticado em fase avançada, comumente na presença de doença metastática. A introdução de modernos métodos diagnósticos associados ao aperfeiçoamento dos já existentes tem gerado controvérsia quanto à melhor maneira de se estabelecer o diagnóstico e estadiamento do tumor. Da mesma forma, o papel da cirurgia na paliação e aspectos técnicos da ressecção de lesões localizadas estão longe de alcançarem consenso na prática. Método - Revisão da literatura sobre os aspectos controversos relacionados ao tema e um algoritmo para a abordagem dos pacientes com suspeita de tumor de pâncreas são apresentados. Foram utilizados os descritores: “adenocarcinoma” e “pâncreas” para pesquisa no PubMed (www.pubmed.com) e na Bireme (www.bireme.br) e a seguir selecionadas as publicações pertinentes a cada tópico escolhido com atenção especial para metanálises, estudos clínicos controlados, revisões sitemáticas e ainda publicações de grandes centros especializados em doenças pancreáticas. Conclusões - Na suspeita de adenocarcinoma de pâncreas é possível realizar estadiamento muito próximo do real sem a necessidade da exploração cirúrgica sistemática em virtude da disponibilidade na prática de exames modernos e eficientes. Isso permite que paliação menos invasiva seja praticada na maioria dos pacientes com lesões avançadas e incuráveis. Nos em que a cura é possível, a operação deve ser realizada objetivando-se, essencialmente, a remoção da lesão com margens livres e com aceitáveis índices de morbi-mortalidade

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O risco de quedas pode ser reconhecido como fenômeno ou diagnóstico de enfermagem. Pesquisas relacionam diretamente isquemias miocárdicas, como a angina instável e o risco de cair. Objetivou-se analisar o diagnóstico de enfermagem Risco de quedas na ocorrência de angina instável por um estudo transversal realizado em 57 indivíduos internados em um hospitalescola, mediante exame físico e formulário. Para o tratamento estatístico foram utilizados teste qui-quadrado, teste exato de Fisher, Mann-Whitney, teste-t e Coefi ciente Phi (p<0,05). O Risco de quedas foi o diagnóstico de enfermagem mais prevalente (87,71%), sobretudo em homens, mais velhos, com menos anos de estudo e renda inferior. Presença da angina instável, hipertensão arterial, medicação anti-hipertensiva, doença vascular, difi culdades visuais e insônia apresentaram associação com o diagnóstico de enfermagem Risco de quedas. Conclui-se que é imprescindível o desenvolvimento de parâmetros claros e objetivos à mensuração mais acurada do risco de quedas no âmbito hospitalar

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This work aimed to study the diversity and distribution of marine sea turtles stranded in Potiguar Basin, Rio Grande do Norte, as well as aspects related to feeding behavior associated with human impacts. The study was conducted through the analysis of data from stranded animals, recorded in a daily monitoring in an area bounded on the north by the municipality of Aquiraz, in the state of Ceará, and the east by the municipality of Caicara do Norte, in the state of Rio Grande do Norte. Stranded dead animals were necropsied and for the analysis of the diet of animals, esophagus, stomach and intestines were fixed in 10% formalin and after that, the stomach contents were sorted and stored in 70% alcohol. Representative fragments of these organs were removed for making histological slides, with a view to histological characterization of the digestive tract. 2.046 occurrences of turtles were recorded during the period from 01/01/2010 to 31/12/2012. The Chelonia mydas species showed the highest number of records and it was observed in 66.81 % (N = 1,367) of cases; followed by Eretmochelys imbricata with 4.45 % (N = 91) and by Lepidochelys olivacea with 1.22% (N = 25). The Caretta caretta and Dermochelys coriacea species were, respectively, 0.93 % (N = 19) and 0.05 % (N = 1) records of strandings. In 26.54 % of cases, it was not possible to identify the species. Regarding the spatial distribution, the stretch A was the one that had the highest number of strandings and a larger number of records were registered in the warm months of the year. The dietary analysis showed that C. mydas fed preferentially on algae; C. caretta had a diet with a predominance of the item "coral´s fragments" and E. imbricata species showed preference for an animal origin material. Related to this anthropic interaction, 57.14 % (n = 76) of animals that died at the rehabilitation s base, showed cause of death due to complications from ingesting debris. According to the data presented, the Potiguar Basin presents itself as an area with important diversity and distribution of marine sea turtle as well is characterized as a feeding and nidification area for these species

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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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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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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