Determinantes genéticos da hanseníase em uma população do Rio Grande do Norte

Background: Leprosy can cause severe disability and disfigurement and is still a major health in different parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy patients. The outcome of infection is in part due to host genes that influence control of the initial infection and the host´s immune response to that infection. Aim: Evaluate if polymorphisms type SNP in the 17q118q21 chromosomic region contribute to development of leprosy in Rio Grande do Norte population. Material and methods: A sample composed of 215 leprosy patients and 229 controls drawn from the same population were genotyped by using a Snapshot assay for eight genes (NOS2A, CCL18, CRLF3, CCL23, TNFAIP1, STAT5B, CCR7 and CSF3) located in chromosomic region 17q118q21. The genotype and allele frequency were measured and statistical analysis was performed by chi-square in SPSS version 15 and graph prism pad version 4 software. Results: Ours results indicated that the markers NOS2A8277, NOS2A8rs16949, CCR78rs11574663 and CSF38rs2227322 presented strong association with leprosy and their risk genotype were GG, TT, AA and GG respectively. The risk genotypes for all markers associated to leprosy presented recessive inheritance standard. When we compared the interaction among the markers in different combination we find that the marker NOS2A8277 associated with CCR78rs11574663 presented highest risk probability to development of leprosy. When we evaluated the haplotype of the risk markers it was found a haplotype associated with increase of the protection (CSF38rs22273228CC, CCR78 rs115746638GA, NOS2A8rs169498CT and NOS2A82778GA). The association of the clinical forms paucibacilary and multibacilary with markers showed that to the markers NOS2A8 2778GG, CCR78rs115746638AA and CSF38rs22273228GG there were a strong influence to migration to multibacilary pole and to marker NOS2A8rs169498TT the high proportion was found to the paucibacilary form. Conclusions: Changes in the genes NOS2A, CCR7 and CSF3 can influence the immune response against Mycobacterium leprae. The combination among these polymorphisms alters the risk probability to develop leprosy. The markers type SNP associated to development of the leprosy also are linked to clinical forms and its severity being the polymorphism NOS2A8rs169498TT associated with paucibacilar form and the polymorphisms NOS2A82778GG, CCR78rs115746638AA and CSF38rs22273228GG associated to multibacilar form

Intervenção dietoterápica em portadores de lipodistrofia generalizada congênita do Rio Grande do Norte

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

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

Fragmentos da história das concepções de mundo na construção das ciências da natureza: das certezas medievais às dúvidas pré-modernas

A concepção filosófica do mundo se inicia com os gregos sintetizados por Platão e Aristóteles. Para o primeiro o mundo físico é aparente e para se chegar à verdade é preciso se lembrar das idéias originais que determinam seu significado. Para o segundo as coisas físicas são dirigidas pelas idéias e para entendê-las é preciso a lógica. Durante o helenismo a escola de Alexandria elabora o neoplatonismo, a base da Patrística. Após a queda de Roma, os filósofos bizantinos guardam a herança clássica. A Igreja constrói uma visão neoplatônica da cristandade, a Escolástica. No oriente os persas também sofreram a influência grega. Entre os árabes do Oriente o pensamento neoplatônico orienta filósofos e religiosos de forma que para eles a razão e a fé não se separam. Aí a ciências se desenvolvem na física, na alquimia, na botânica, na medicina, na matemática e na lógica, até serem subjugadas pela doutrina conservadora dos otomanos. Na Espanha mulçumana sem as restrições da teologia, a filosofia de Aristóteles é mais bem compreendida do que no resto do Islã. Também aí todas as ciências se desenvolvem rápido. Mas a Espanha sucumbe aos cristãos. Os árabes e judeus apresentam Aristóteles à Europa Ocidental que elabora um Aristóteles cristão. A matemática, a física experimental, a alquimia e a medicina dos árabes influenciam intensamente o Ocidente. Os artesãos constroem instrumentos cada vez mais precisos, os navegadores constroem navios e mapas mais eficientes e minuciosos, os armeiros calculam melhor a forma de lançamento e pontaria de suas armas e os agrimensores melhor elaboram a medida de sua área de mapeamento. Os artistas principalmente italianos, a partir dos clássicos gregos e árabes, criam a perspectiva no desenho, possibilitando a matematização do espaço. Os portugueses, junto com cientistas árabes, judeus e italianos, concluem um projeto de expansão naval e ampliam os horizontes do mundo. Os pensadores italianos, como uma reação à Escolástica, constroem um pensamento humanista influenciado pelo pensamento grego clássico original e pelos últimos filósofos bizantinos. Por todas essas mudanças se inicia a construção de um novo universo e de um novo método, que viria décadas mais tarde.

Aluminum tolerance on genotypes of signal grass

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Caracterização molecular e laboratorial da talassemia beta e da interação hemoglobina s/talassemia beta

Beta thalassemia arises as a consequence of the reduction (β+, β++, βsilent) or absence (β0) of beta globin chain synthesis and results from a number of mechanisms that lead to genetic defects. The inheritance of beta thalassemia is characterized by the existence of heterozygous individuals, compound heterozygotes, homozygotes and those with coinheritance of beta thalassemia allele and other thalassemias and/or hemoglobin variants. The aim of this study was to perform molecular and laboratory characterization of beta thalassemia in heterozygous and homozygous individuals and in those with coinheritance of S beta thalassemia. A total of 48 individuals were included (35 heterozygotes, 4 homozygotes and 9 S beta thalessemia carriers) referred to the Integrated Laboratory of Clinical Analyses of the Federal University of Rio Grande do Norte (UFRN) and the Hematology Ambulatory Facility of the Dalton Barbosa Cunha Hemocenter (Hemonorte Natal, Brazil). Peripheral blood samples form each patient underwent the following laboratory examinations: erythrogram, hemoglobin electrophoresis at alkaline pH, measurements of Hb A2, Fetal Hb and serum ferritin. DNA was extracted using the illustra blood genomicPrep Mini Spin Kit and molecular characterization was performed by the PCR/RFLP technique, which involves digestion with specific restriction enzymes for IVS-1 nt 1 (G®A), IVS-1 nt 6 (T®C) and codon 39 (CAG®TAG) mutations. Of the 35 heterozygotes, 37.1% showed IVS-1 nt 6 mutation, 42.9% IVS-1 nt 1 and 20% were carriers of other mutations not identified by the technique used. The four homozygous patients presented with the IVS-1 nt 6 mutation, while 66.7% of the individuals with S beta thalassemia had the IVS-1 nt 1 mutation. Codon 39 was not detected in any of the patients investigated. Of the thallasemic alleles found, 40.4% were IVS- 1 nt 1, 40.4% IVS-1 nt 6 and 19.2% were not identified. Laboratory data showed that the heterozygotes exhibited microcytosis and hypochromia, evidenced by MCV ranging from 57 to 75fL and MCH from 15.9 to 23.6 pg. Hemoglobin A2 varied between 3.7 and 7.2%. The homogygotes also showed reduced MCV and MCH and elevated HbA2.. Comparison of laboratory data between heterozygous individuals with IVS-1 nt 1 and IVS-1 nt 6 mutations showed that heterozygotes for the IVS1-1 mutation had significantly lower mean MCV and MCH (p = 0.023 and 0.007, respectively) and significantly higher hemoglobin A2 (p < 0.001) when compared to heterozygotes for the IVS-1 nt 6 mutation. PCR/RFLP was useful in identifying the presence or absence of IVS-1 nt 6, IVS-1 nt 1 and codon 39 mutations in most of the patients investigated here. This is the first study conducted in the state of Rio Grande do Norte, Brazil aimed at identifying beta thalassemia mutations and represents an important contribution to the knowledge regarding the molecular profile of beta thalassemia in our country

Fé & Cia. LTDA: consumo religioso na sociedade contemporânea

The present work is an exercise of analysis from the cultural exercises related to movie high one of its raised status more with the deity, the human being surrenders it Religion leaving puzzleds the prophets of its end. The purpose of this work is to show that the religious phenomenon is one of the essential components of the socialization human being. The religious dimension, although to have been kept out of society in modernity - it was cybernetics, is an indispensable compassing to guide the human being in the discovery of its true existencial direction. For this, to attenuate the legacy without appropriate title, overwhelming and despairing of the producing and consumer goods society, it is indispensable to add as basic part to the practical one of the religion. And this practice is specify at the acquirement as of commodities objects , than it is to they are consecrate, exercising um magical power under the assistants from the religion. The fair religious Expo Religious, like the Expo Crest (fair as of commodities and service of the Evangelist) and the one Expo Catholic (fair as of commodities and service of the Catholics), appears at the I initiate from the century 21 at the association Brazilian about to cater the litigation of the market religious at every their segments. The and objective of this research is bring forward those two fairs in the format as of Expo and your contribution at the dynamic from the religion crest at the association he acts

A capoeira e os mestres

The Capoeira considered as a manifestation of the Popular Culture - inheritance of African peoples - is a cultural and social practice present in Brazil since the colonial time. This study is dedicated to the Capoeira and its masters. We work the Capoeira as a social field through the theoretical perspective of the Sociology of Pierre Bourdieu. We try to apprehend the social construction of the master, the legitimacy of his knowledge, the disputes and the representations that they ve elaborated over the space which was redefined for material and symbolic changes that occurred with the Capoeira through the last decades. The operating notions of social field, habitus, capital and tradition had been pertinent to think the power games , the social relations and the symbolic plots in the Field of Capoeira. From the methodological standpoint, although the interviews with the masters and the direct observation have had a special place in the research, other strategies had been used: researches in newspapers, thematic magazines and periodic, musical compositions and academic works. The performance of the masters in the process of reinvention of traditions has redefined their social place in relation to the previous generations. These are perceived as social actors responsible for the maintenance, dynamicity, affirmation, spreading and expansion of the capoeirístic practice

Mulheres na Política e Autonomia

The proposal of this study was to work with women in the politics, focusing on their trajectories, biographies and speeches, to catch the meanings given by themselves to their insertion in the political field. The privileged instrument of research was the autobiographical narratives of fifteen women who, in Paraíba, had participated of the electoral processes and the life partisan politics in the period from 1998 to 2008, in the state and federal scopes. This permitted us to search the dimension of their lived expericence, to understand the trajectories and the processes of autonomation of the women, in the politics. Moreover, a quantitative mapping of the feminine presence in the processes was made electoral politicians in a wider context. In a similar way, two surveys had been carried throughout the research, among others aspects, to understand that image voters and politicians they construct concerning the feminine participation in this field. These instruments were important not to lose of all the social view where these lives were developed, the places from which these women speak and locate and the social meanings originated from this participation. The research aimed to establish dialogues between knowing and fields of discipline, beyond the dichotomy of actor/structure, preventing generalizations that ignore the plurality of the individuals, to reveal some aspects of the complex and contradictory processes that involve their participation in the political field. At last, it is tried to show that, although the frequent accusations of autonomy lack, when establishing relations in the public space, the women, as all subjects, can reflect about themselves, the motives of their thoughts and their actions escaping from the servitude of the repetition and avoid being only product of the institution that formed them (CASTORIADIS, 1992, p.140-141)

Os batistas regulares e as armadilhas históricas do iluminismo

Taking the Regular Baptist Churches of Rio Grande do Norte as the research field, this paper seeks to contribute to a new, more appropriate vision of the new picture of the religiosity of the Brazilian Protestantism. Established since 1938, the Regular Baptists Churches have been representing and producing their speech through their 58 churches spread throughout the state, besides a Theological School, two camps, an association (AIBRERN) and a House of Spiritual Assistance to Drug Dependents (CAEDD). A reflection of the symbolic substratum of the spirituality of the group agrees with the external description of its presence in RN. We understand that the Regular Baptists represent yet one more translation of a modern religious speech and that their focus is on the inheritance of a Christian fundamentalism based on the illuminist rationalism. In this way, we observed this group trying to find in its doctrines, practices and rules of conduct a demonstration that the spirit of the post-modernism challenges the group to new dynamics in the conservative model of its spirituality

Agricultura familiar, multifuncionalidade da agricultura e ruralidade: interfaces de uma realidade complexa

The last decades witnessed the revitalization of the debate around family farming with the addition of discussions regarding the multiple functions of agriculture, given the fact that rural areas are longer devoted exclusively to agricultural activities. In the Brazilian context, we believed that this debate must be permeated by analyses of how differentiated processes of land distribution and economic development, and the resulting types of agriculture, generate specific ruralities with characteristics such as, in the case of family farming, the maintenance of social and work practices marked by the relations among relatives and neighbours. It is in this light that this research analyses family agriculture in a rural area of Ouro Fino-MG, its historical heritage, and its participation in the creation of a physical and human landscape that greatly contributes to the attractiveness of the region.

Vida, experiência, conhecimento : a reforma do sujeito cognoscente em Tsunessaburo Makiguchi

Utilizing a great part of the works by Japanese educator Tsunesaburo Makiguchi and the register of fragments of his life, this thesis affirms that knowledge emerges from peoples` experience as they go about their daily lives. Facts, events, genetic inheritance, cultural patrimony, family history, the place where one was born and lived, and psychological predispositions nurture and form a vision of the world and of life in general. In Makiguchi s case, this multi-causal constellation led him to conceive the system of the value-creating pedagogy of good, gain and beauty; discussing the importance of cognition and evaluation in the experience of the human being. His life is exemplary in demonstrating that these aspects are inter-connected and, in a recursive movement between knowledge and self-knowledge, they can generate creative systems for understanding the world and introducing, essentially, the author into the epistemological problematic of complexity. The Makiguchian system and Edgar Morin s complexity approach suggest a pragmatic, paradigmatic reform of education and a thought reformation in the direction of the complex pedagogy, and that it creates a web that connects master-disciple, subject-object, human-world, local-global and singular-universal

Dificuldades na aprendizagem dos conteúdos de Biologia: evidências a partir das Provas de Múltipla Escolha do Vestibular da UFRN (2001-2008)

Los estudios cerca de las dificultades en el aprendizaje del contenido de la biología han sido foco de la investigación diversa que si ten corido a partir de la década de setenta del siglo pasado, en consecuencia al movimiento de las concepciones alternativas (MCA). El estudio que se presenta, se atan con el Departamento de Educação da UFRN - Base de Pesquisa Formação e Profissionalização Docente, como parte do projeto de pesquisa - A passagem do Ensino Médio a UFRN: estudos sobre o acesso, a permanência e a qualidade do Ensino Médio. Los objetivos de esto investigación, habían consistido en el identificar del contenido explorado en las cuestiones de las Pruebas de la opción múltiple del Vestibular de UFRN para el cual los candidatos habían demostrado dificultad en el aprendizaje; para analizar si el contextualização de la pregunta y la presencia de elementos no-literales que habían influenciado en el aumento de la dificultad de la pregunta e identificar los errores más frecuentemente por los candidatos en estas pruebas. La tesis si configura en dos dimensiones: 1 - El contenido explorado en las Pruebas del Vestibular de la UFRN si distribuya uniformemente a través de los años; sendo priorizados procedimentos que exigem demanda cognitiva diversificadas na solução de problemas; 2- Nessas provas, os resultados dos candidatos, en relación con el Índice de Aproveitamento, indican la existencia de áreas en las quales hay déficit del aprendizaje; qué envolucran las dificultades en aprender el contenido. Los datos de la investigación habían sido recogidos al partir de las pruebas de la biología y de la inicial abstracta selectiva de los informes proveído para el COMPERVE/UFRN, del último los ocho años (2001-2008). En la dirección alcanzar a los objetivos considerados para este estudio, contenta había sido construido a las categorías del análisis - (temas, subtemas y procedimientos); índice de aproveitamento; contextualização de la pregunta; estructura de la pregunta y el error. Los resultados, qué si configurán de los análisis de las ocho pruebas del vestibular de la UFRN y los sesenta y cientos envolvement mil, seiscientos y sesenta y cinco candidatos que le habían contestado; demuestran eso: los temas y los subtemas de la biología para los cuales las dificultades en aprender si está tenido divulgado sea - genética (hibridismo; fenótipo y genotipo; Leyes de Mendel), biotecnología (transgênicos; célula-tronco) y citología (química de la vida; división celular; membranas) y los procedimientos - identificar, analizar la situación y aplicar concepto, para correlacionar y para interpretar el gráfico; los quais não exigem uma alta demanda cognitiva na solução dos problemas. La presencía de situações contextualizadas e de gráficos en las questiones de las pruebas influenciou en el aumento dos niveles dificuldade da of questão para a maioria dos candidatos, reiterando as of dificuldades of observadas na of aprendizagem dos procedimentos. Los errores principales cometidos para los candidatos habían consistido en no reconocimiento del estándar de la herencia del gênica - mendelian y después de-Mendel; no del reconocimiento de los acontecimientos de la división celular y de las técnicas en biotecnología. Éstos habían reflejado las dificultades en aprender del contenido para algún contenido y en otros sugieren que tuviera la expresión de los conceptos alternativos que los estudiantes construyen en los conceptos. Los resultados señalan la necesidad de una revisión de las preguntas inherentes didácticas-metodológicas a la educación del contenido para las cuales las dificultades en aprender si hay tenido presentado

Herdabilidade de preditores do risco cardiovascular

genetic and environmental factors contribute to the development of cardiovascular risk and that influence can be differentiated by factors characteristic of each population, age and sex. Aim: To investigate the heritability of anthropometric and biochemical markers as predictors of cardiovascular risk in men and women of different age groups, using the method of twins. Methods: A sample of 88 subjects and of these 52 children and adolescents (08-17 years old) 32 monozygotic (20 female and 12 male) and 20 dizygotic (12 female and 08 male) and 36 adults (18-28 years age) 24 monozygotic (08 female and 16 male) and 12 dizygotic (06 female and 06 male), living in the metropolitan region of Natal / RN, Brazil. Anthropometric measures were taken as the height, body mass, waist circumference (WC), sum of skinfolds (ΣDC), fat percentage CUN-BAE, BMI and conicity. Biochemical markers analyzed were: fasting glucose (GLU), total cholesterol (COL), HDL-C, LDL-C and triglycerides (TG). After processing the data the index of heritability (h2) = (S ² MZ) / S ² DZ (DZ S ²) X100 was applied disaggregated by sex and age. Results: The variables showed differential heritability of behavior for men and women, depending on age. The variables with the highest heritability values were ΣDC, GLU, HDL, TG, in men and BMI, WC, ΣDC, GLU, HDL-C and TG in women. And more influenced by the environment variables were: body mass, BMI, Chol, LDL-C in men; body mass and LDL-C in women. Conclusion: Differences index of heritability by gender for cardiovascular risk predictors may assist in planning specific intervention strategies according to gender and stage of life of that individual. It is from the level of environmental influence that can run interventions for changes of components related to cardiovascular risk

Efeito da linhagem citoplasmática sobre a produção de leite em bovinos da raça Caracu

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)