Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE

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

Avaliação do cuidado na estratégia saúde da família em metrópoles do nordeste brasileiro

Objective: To evaluate the implementation of the Family Health Strategy (FHS) in Brazilian cities of the Northeast, expanding coverage, analyzing the progress, challenges and innovations. Methods: Multicentric Evaluation Research, Studies Baselines in urban centers, using as a case study method. Selected cases of Aracaju, being capital, advanced coverage with extended team, and Fortaleza, capital coverage incipient and minimal staff. In Fortaleza, purposive sample of 11 Units Primary (APS), 03 managers, 53 professionals and 109 users. In Aracaju, 09 units of APS, 02 managers, 36 professionals, and 90 users. Structured interviews for managers, and structured to professionals and users. Descriptive analysis focusing on the political and institutional dimensions, organization and comprehensive care. Results: There was consensus that the ESF is the preferred port users and acts as inducing changes in care. In the case of Fortaleza, the specificities were: care protocols and community activities aimed at chronic conditions (100%) , with greater participation of doctors and nurses (93%) ; conjunction with more complex services, but the teams reported difficulties with the examination center and experts, the long waits and poor access to local services were the main difficulties reported by users., As innovative practice, the therapeutic group of elderly caregivers mentioned by respondents; There was intersectoral initiatives and teams 87 % of users have participated in meetings about health problems. In the case of Aracaju, care protocols were directed to the lines of care and formulated locally, 85 % coverage of the population with FHS counterpart local financing; employees hired by public tender; 70 % of teams with expertise in public health center for continuing education acting; democratization in management; access technologies, welcoming and computerization in different integrated networks, and evaluation matrix. Conclusions: The ESF has promoted access to health care and inclusion of disadvantaged populations. Different perceptions and practices in the organization of care, with distinct trajectories of reorganization. In the case of Fortaleza, predominance of model programs valuing older, with evidence of advances in care practices and teamwork, but restricted to primary care practices and incipient in public policy perspective. In Aracaju, had network integration with technologies related to the family, in which the ESF is consolidated as public policy. It can be argued that the XII APS expanding coverage, exhibited efficacy, despite the challenges inherent to the different degrees of implementation

Estudo genético-clínico de mucopolissariodoses no estado do Ceará

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

Comparação da incidência de câncer em infectados pelo HIV e em transplantados com a população geral

Introdução: Estudos demonstram uma relação entre a queda da imunidade e o aumento da incidência de câncer. Objetivo: Comparar a incidência de câncer em pacientes infectados pelo HIV e em transplantados com a da população geral. Métodos: Foi realizada revisão sistemática com metanálise, combinando descritores específicos nas bases de dados Pubmed, Scielo, Cancerlit e Google Scholar, buscando alta sensibilidade para responder o objetivo da pesquisa. Os artigos considerados de alta qualidade metodológica por apresentarem todos os critérios de inclusão foram avaliados por metanálise. Resultados: Foram incluídos 25 estudos envolvendo 866776 pessoas com HIV/AIDS e transplantados, em que foram diagnosticados 21260 novos casos de carcinoma. Observou-se que o risco para o surgimento de novos casos de câncer foi maior entre indivíduos com HIV/AIDS (SIR= 4, IC95% 3,78-4,24) e entre os transplantados (SIR= 3,28, IC95% 3,06-3,52) quando comparado com a população em geral. Conclusão: A incidência similar em ambas as populações pesquisadas sugere que o comprometimento do sistema imune, comum em ambas, é responsável pelo risco aumentado de novos casos de câncer. Investimentos em pesquisas que desenvolvam estratégias de prevenção mais eficazes para os dois grupos são necessários, pois podem contribuir para a redução da incidência e para a diminuição da mortalidade.

Atividade anticoagulante, antioxidante e antitumoral de heterofucanas da alga Dictyopteris delicatula (Lamouroux, 1809)

In the present study, six families of sulfated polysaccharides were obtained from seaweed Dictyopteris delicatula (Lamouroux, 1809) and their anticoagulant, antioxidant and antitumor activities were evaluated. All fractions showed anticoagulant activity on aPTT assay, but not on PT assay. Fractions also exhibited total antioxidant activity, superoxide radical scavenging capacity and ferric chelating property. Thus, six fractions (F0.5v, F0.7v, F1.0v, F1.3v, F1.5v e F2.0v) we obtained by proteolytic digestion, followed by acetone fractionation and molecular sieving on Sephadex G-100. Chemical analyses demonstrated that all polysaccharides contain heterofucans composed mainly of fucose, xylose, glucose, galactose, uronic acid, and sulfate. Any fractions changed the PT. However, all fractions were able on double the aPPT on a dose-dependent manner. The heterofucans F0.7v and F1.0v showed low anticoagulant activity while F1.5v presented the most prominent anticoagulant activity .When compared to Clexane®, a low molecular weight heparin, at same concentration F1.5v presented similar anticoagulant activity. The fucans F0.5v and F0.7v at 1.0 mg/mL showed high ferric chelating activity (~45%), whereas fucans F1.3v (0.5 mg/mL) showed considerable reducing power, about 53.2% of the activity of vitamin C. The fucan F1.5v presented the most prominent anticoagulant activity. The best antiproliferative activity was found with fucans F1.3v and F0.7v. However, F1.3v activity was much higher than F0.7v inhibiting almost 100% of HeLa cell proliferation. These fucans have been selected for further studies on structural characterization as well as in vivo experiments, which are already in progress

Efeitos da sintomatologia depressiva na mobilidade de idosos de um centro urbano do nordeste brasileiro

O processo de envelhecimento da humanidade é um fenômeno mundial e nas últimas décadas a população brasileira tem acompanhado essa tendência. No entanto, este fenômeno somente pode ser considerado como uma real conquista em termos sócios demográficos na medida em que se agregue qualidade aos anos adicionais de vida para a população. Em populações idosas, a incapacidade funcional e os sintomas depressivos tornaram-se importantes conceitos tanto por suas consequências para a saúde pública, quanto pelo impacto na qualidade de vida dessas populações. Este estudo tem como objetivo verificar se há associação entre os sintomas depressivos e o desempenho funcional de idosos comunitários. Foram avaliados 313 idosos de um centro urbano do nordeste brasileiro através das baterias de testes; Center for Epidemiologic Studies Depression CES-D e Short Physical Performance Battery - SPPB; além de variáveis relacionadas ao estado físico, condições crônicas, função cognitiva e características sócio demográficas. Foram utilizadas medidas de correlação e aplicado método de análise multivariada para construir um modelo explicativo da influência da sintomatologia depressiva no desempenho funcional. Os resultados revelaram que as mulheres apresentaram mais sintomas depressivos (p< 0.01) e pior desempenho funcional (p< 0.01) que os homens. Os indivíduos com sintomatologia depressiva apresentaram pior desempenho funcional, especialmente as mulheres. A idade, o sexo feminino, o estado de saúde percebido, o nível de função cognitiva e o Índice de massa corporal foram identificados como fatores associados ao desempenho funcional na amostra estudada. Os resultados deste estudo permitem inferir a relação de associação entre sintomas depressivos e desempenho funcional em uma população de idosos de um centro urbano no nordeste do Brasil. Estes resultados fornecem informações úteis para intervenções terapêuticas adequadas voltadas para a prevenção do declínio na mobilidade em idosos

Análise do vetor de impedância bioelétrico na avaliação da suplementação de zinco em crianças prepuberais e sadias

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Determinação dos intervalos de referência para lipídios, lipoproteínas e apolipoproteínas no estado do Rio Grande do Norte

The lipid profile is a group of lab tests that include triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C). However, serum non-HDL-C, Apo A-I and Apo B levels, as well as the lipids ratios (TC/HDL-C, LDL-C/HDL-C and Apo B/Apo A-I), have been described as better predictors of cardiovascular diseases. Reference intervals are tools often used to help the evaluation of the people s health state. These days, Brazilian studies still use the reference intervals of lipids and lipoproteins from other countries, ignoring differences between the populations. Therefore, this study aimed to establish reference intervals for lipids, lipoproteins and apolipoproteins in adults of Rio Grande do Norte/Brazil. Healthy individuals (96 men and 283 women) between 18 and 59years old formed the reference sample group. The samples were collected after fasting 12 to 14 hours. Information on lifestyle and dietary habits of the participants were obtained through questionnaire. The serum glucose level and renal and liver activity were evaluated by laboratory testing. The results of lipid profile were analyzed according to sex, age and mesoregion of Rio Grande do Norte, with significance level of 5% (p < 0,05). The lower and upper reference limits were identified by the 2.5 percentile and 97.5 percentile, respectively, and assurance intervals of 90% was calculated for each of these limits. Among the determinants of lipid profile analyzed, only a few significant differences were observed according to sex, but in terms of age, the groups of smaller and older ages were most likely different. When evaluated by region, the means of West region shown the most significant variations. Not many studies were useful to compare the reference intervals determined in this study. Thus, it becomes necessary to carry out similar studies in other regions of Brazil and of the world given the clinical importance of reference intervals

Soroprevalência da infecção pelo Trypanosoma cruzi no município de Caicó, RN, e caracterização genética por RAPD do parasito isolado de humanos e de triatomíneos no semiárido potiguar

Trypanosoma cruzi infection was evaluated in 390 resident individuals in different rural communities of Caicó municipality, State of Rio Grande do Norte (RN). Of 28 investigated communities the soroprevalence of T. cruzi infection was 2.8% in eight rural communities individuals. The epidemiological characteristics of seropositive shown that the age ranged from 22 to 64 years, being significantly raised from 31 years (90.9%). The female gender was predominant and low education degree. Those individuals reported that they never donated blood, but they had direct contact with triatomines bug. The isolation of the parasite was performed by blood culture and xenoculture methods to determine the genetic variability of the samples. Twenty seven T. cruzi isolates were analyzed by RAPD as genetic marker using three random primers (M13-40, gt11-F and L15996). The T. cruzi isolates showed 73.7% of shared bands considering the average obtained with the three primers, and were genetically well correlated. Using this marker it was possible to separate the populations of the parasite in three distinct groups. The first group composed by isolates obtained of triatomines and humans from four different districts (Caicó, Caraúbas, Serra Negra doNorte and Governador Dix-Sept Rosado); the second contained isolates obtained of triatomines of two different species (T. brasiliensis and P. lutzi) captured in Caraúbas and Serra Negra do Norte. The third grouped isolates obtained from humans of Angicos and Caicó municipalities. In different localities of distinct mesoregions, State of RN, a profile genetic well correlated was identified among all isolates and the presence of three distinct groups of the parasite circulating among vertebrate and invertebrate hosts

Análise da frequência alélica de 15 LOCI STR na população do Rio Grande do Norte

Human population have a significant number of polymorphic loci, whose use and applications range from construction of linkage maps, to study the evolution of populations, through the determination of paternity, forensic medicine and migration. Currently, STRs (Short Tanden Repeats) markers are considered the major markers for human identification, mainly due to its abundance and high variability because of the fact that they are easily amplifiable by PCR (Polymerase Chain Reaction), work with low amounts of DNA and be capable of automation processes involving fluorescence detection. The creation of regional databases containing allele frequencies of population provide subsidies to increase the reliability of the results of determining the genetic link. This paper aims to obtain a database of allele frequencies of 15 polymorphic molecular loci (D8S1179, D21S11, D7S820, CSF1PO, D19S433, vWA, TPOX, D18S51, D3S1358, TH01, D13S317, D16S539, D2S1338, D5S818 e FGA) in a population classifies as born in the State of Rio Grande do Norte, Brazil, totaling 1100 unrelated individuals. To evaluate the frequency, DNA samples were submitted to PCR amplification, followed by capilarry electrophoresis genetic sequencer. The frequencies identified in this study were compared with brazilian population in general and other states in Brazil. Except for the loci D21S11, D19S433 and D2D1338, the genotypes found were in Hardy-Weinberg equilibrium and no significant differences among the frequencies were found in the populations studied. The most informative loci was D2S1338 and D18S51, and the less informative is the locus TPOX

Uso sustentável da Copernicia prunifera (Miller) H. E Moore no semiárido potiguar: valorização de saberes e conservação dos recursos genéticos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Ilha dos indivíduos: a construção social da fortaleza moderna

The aim of this work is to analyze the phenomenon of the partner-space segregation in the city of Fortaleza, having as reference the sprouting of recent forms of housing that privilege areas with desert-like aspects, and the removal from the popular accumulations, which is becoming the shelter of the populations economically favored of the capital. Our field study was developed in the land division Alpha Village, a located urban enterprise in the east of the city. Different from the research that deals with the question of segregation as a sui generis product of the partner-economic inequality, we opt to an analysis directed more towards the dimension of the subjectivity, searching the roots of the phenomenon in the proper constitution of the human being. From interviews with the inhabitants of the related land division, we decided to analyze the social imaginary significances (Castoriadis) that composed their speech, and that they defined in this way, its representations concerning themselves, as strangers that cross the streets of the cited space, becoming thus suspected in potential. Inside our perspective, the segregation gains a ambiguous connotation, therefore at the same time that it authorizes the symbolic destruction of the other, it is also a tool that aids to support the "pain of the unreliability"

O impacto do programa do leite na vda familiar dos beneficiários do Rio Grande do Norte - Natal

This present study aims to identify and evaluate the impacts caused by the state Programa do Leite in the familiar life of the ones that get this benefit in Natal, from 2003 to 2008. The interviews were done in the four areas of the city and show the high level of poverty of the ones registered in the benefit. The introduction of the families in the program changed their habits. The study also shows the fragility of the poor population inside social welfare works like this one. Some of these programs become permanent by the politicians and by the lack of economic independence of the ones that get the benefit, causing much more dependence of these people on the social program

O compromisso político do serviço prestado pela Fundação Bradesco na cidade de João Pessoa

In this work we have analyzed the political commitment of the social assistance sponsored by the Bradesco Foundation in João Pessoa. This Foundation is a private institution of public interest that provides social assistance to low income populations all over Brazil. This kind of work is one of the oldest management initiatives in what is actually referred to as managers` social responsibility. This thesis assumes that managers who are in fact socially responsible should guide their actions by the principles of social democracy, so that everyone can enjoy citizens` social freedom, and guarantee their rights as well as the political awareness of social actors. Analysis of documents and a qualitative approach have been applied to the pedagogical Project of the Foundation, as well as phenomenology to study the social profile of their students. The analysis of the pedagogical project as well as the students` standpoint towards life reveals that the Bradesco Foundation is indeed committed to the social efficacy of its students. The educational proposal of the organization includes those elements that are required for teenagers` education envisaging participative citizenship. The teenagers` speech reveals that they have developed the project identity, being therefore able to take part in the process of political transformation of our time. The results indicate that the Bradesco Foundation not only guarantees some of the basic social rights for the healthy development of those who attend their courses, but also sponsors a high level education providing both a technical and a political formation

Cooperativismo sob a ótica da economia solidária e popular : algumas evidências no meio rural potiguar

Las experiencias colectivas como canales de acceso a mejores condiciones de vida, engendradas por los sectores populares y, especialmente, por las populaciones rurales, nos motivaron a la realización de esta investigación. Teniendo como unidad de análisis una cooperativa constituida por agricultores y agricultoras familiares, investigada por medio de un estudio de caso y como base teórica las concepciones de economía solidaria y popular, nuestra cuestión central fue comprender ¿cuales las prácticas adoptadas que han posibilitado su éxito? Para ello, partimos de la hipótesis de que el éxito de esas organizaciones depende de la aplicación de los principios cooperativistas, cuales sean: adhesión libre y voluntaria, democracia, participación, intercooperación, educación e información, preocupación con el entorno, autonomía e independencia; y de sus relaciones externas con el Estado y otras instituciones de apoyo. Para cumplir nuestro propósito, fueron seleccionados también algunos indicadores, una amuestra aleatoria de la población elegida y los representantes de las instituciones involucradas con la cooperativa. Siendo una investigación de carácter más cualitativa, pero usando dados cuantitativos, fueron utilizados para la coleta de los datos encuestas semi-estructuradas, cuestionarios con preguntas abiertas y cerradas, observaciones directas, registros fotográficos y análisis documentales. Los principales resultados encontrados indican que la hipótesis fue confirmada, o sea, el éxito de la cooperativa estudiada tuvo vinculación directa con la aplicación de los principios cooperativistas, con el acceso a los recursos públicos disponibles y con los apoyos de otras instituciones, generando beneficios socioeconómicos para los cooperados y externalidades positivas para el desenvolvimiento del entorno