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

The bacterial chromosome segregation protein Spo0J spreads along DNA from parS nucleation sites

Regulation of chromosome inheritance is essential to ensure proper transmission of genetic information. To accomplish accurate genome segregation, cells organize their chromosomes and actively separate them prior to cytokinesis. In Bacillus subtilis the Spo0J protein is required for accurate chromosome segregation and it regulates the developmental switch from vegetative growth to sporulation. Spo0J is a DNA-binding protein that recognizes at least eight identified parS sites located near the origin of replication. As judged by fluorescence microscopy, Spo0J forms discrete foci associated with the oriC region of the chromosome throughout the cell cycle. In an attempt to determine the mechanisms utilized by Spo0J to facilitate productive chromosome segregation, we have investigated the DNA binding activity of Spo0J. In vivo we find Spo0J associates with several kilobases of DNA flanking its specific binding sites (parS) through a parS-dependent nucleation event that promotes lateral spreading of Spo0J along the chromosome. Using purified components we find that Spo0J has the ability to coat non-specific DNA substrates. These 'Spo0J domains' provide large structures near oriC that could potentially demark, organize or localize the origin region of the chromosome.

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.

Herança da resistência ao enfezamento em milho

Os objetivos deste trabalho foram determinar a herança da resistência ao complexo de enfezamento em milho e determinar as melhores fontes de resistência entre as linhagens estudadas. Foram realizadas as análises dialélica e médias de gerações em linhagens de milho. Para a análise dialélica, foram cruzadas 12 linhagens de milho, em dialélico parcial. Para análises de médias de gerações, foram cruzadas três linhagens resistentes e quatro suscetíveis, para a obtenção das gerações F1, F2, RCP R e RCP S. Os trabalhos foram conduzidos em Jaboticabal, SP. A incidência de enfezamento foi avaliada no estádio fenológico R3. Efeitos significativos quanto à capacidade geral de combinação e capacidade específica de combinação foram obtidos, o que indicou que, no controle do caráter enfezamentos, estão envolvidos tanto os efeitos aditivos quanto os de dominância. Análises de médias de gerações mostraram a presença de poucos genes envolvidos com o controle da resistência, com predominância de efeitos aditivos, o que permite a seleção de genótipos resistentes. As linhagens L02, L03 e L05 poderão ser utilizadas como fontes de resistência, em futuras combinações híbridas.

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

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

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

Mitochondrial genotype segregation and effects during mammalian development: Applications to biotechnology

Mitochondria are endosymbiotic organelles responsible for energy production in practically every eukaryotic cell. Their uniparental fashion of inheritance, maternally inherited in mammals, and the homogeneity of mitochondrial DNA (mtDNA) within individuals and matrilineages, are biological phenomena that remain unexplained. This paper reviews some of the recent findings on mitochondrial influences on the manner in which embryos develop and how their genotypes are inherited in mammals, with particular emphasis on the genetic bottleneck effect. Animal models carrying a mix of mtDNAs (heteroplasmic) have been produced by karyoplast and cytoplast transplantation to analyze the segregation patterns at different stages during embryogenesis, in fetuses and offspring. Comparisons performed between murine and bovine reveal interesting changes in segregation and replication of transplanted mtDNAs. We have recently obtained Bos indicus and Bos taurus fetuses and calves from embryos reconstructed using enucleated polymorphic oocytes of Bos taurus origin. These and other findings on mitochondrial biology will have important implications in determining the cytoplasmic genotype of clones and in the preservation of endangered breeds and species. (C) 1999 by Elsevier B.V.

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

A quantitative nature of somatic embryogenesis in soybean

The objectives of this research were to investigate the genetic parameters associated with the in vitro formation of somatic embryos in soybean and to determine the effect of light intensity on the embryogenic capability of F-1, F-2, and backcross (RC1P1 and RC1P2) progenies derived from crosses between embryogenic (IAS-5 and Embrapa-1) and nonembryogenic (Parana) cultivars. Immature cotyledons (4-6 mm in length) derived from the parental lines, F-1, F-2, RC1P1, and RC1P2 were grown for 90 d on the inductive N10 medium, after which the number of somatic embryos was recorded. Chi-square tests for goodness of fit showed that the genetic component of the somatic embryogenesis trait is controlled in a quantitative manner by approximately 10 genes. A normal distribution for somatic embryo formation in the F-2 generations was observed reinforcing the quantitative nature of the trait. Variation in light intensity (8-12 and 27-33 mu mol m(-2) s(-1)) had no effect on somatic embryo formation in the parental material tested.

Genetics of resistance to powdery mildew (Microsphaera diffusa) in Brazilian soybean populations

Crosses between resistant and susceptible soybean cultivars were performed and the F2 populations were obtained to study the inheritance of soybean resistance to powdery mildew and to estimate the number and action of genes related to resistance. The reaction to powdery mildew was studied in a greenhouse and pots carrying plants with symptoms were distributed among the pots carrying the genotypes to be tested as a source of inoculum. Individual plants were scored according to the method of Yorinori (1997), with modifications, and classified as resistant or susceptible. The results showed that adult soybeans plants can present resistance to powdery mildew, which is controlled by one major gene with a dominant effect.