Estudos de microsatélites em humanos: aplicações na identificação de indivíduos, genética de populações, datação de mutações e diagnóstico de doenças

Os microsatélites, também chamados STRs (Short Tandem Repeat), são pequenas sequências de DNA que consistem numa sequência de repetições de um motivo que varia de um a seis pares de bases. Existem em quase todos os cromossomas humanos e podem situar-se nos exões ou nos intrões. Estes últimos são altamente polimórficos e são por isso utilizados na identificação de indivíduos em testes de paternidade e também em estudos de genética de populações. A combinação dos vários genótipos possíveis faz com que cada indivíduo possua um perfil único, que permite a sua identificação. Existem também microsatélites associados a exões ou a regiões promotoras dos genes, normalmente repetições trinucleotídicas CGG/CCG ou CAG/CTG, associados a doenças neurodegenerativas como a síndrome do X-frágil e a doença de Huntington. Neste trabalho caracterizaram-se geneticamente várias populações humanas dos arquipélagos da Madeira, Açores e Cabo Verde. A partir do estudo dos microsatélites do cromossoma Y, foram definidas idades de coalescência que permitiram concluir que as cópias do gene DAZ situado no cromossoma Y são o resultado de um processo evolutivo estando a sua evolução associada a alguns haplogrupos. Verificou-se também a ocorrência de possíveis mutações nos SNPs que definem os haplogrupos, através da comparação dos microsatélites do cromossoma Y dentro de cada haplogrupo, especialmente no haplogrupo E3b. Verificou-se existir uma associação entre o número de repetições CAG e GGC do gene Receptor de Androgénios (AR), situado no cromossoma X, e a infertilidade especialmente quando combinados os dois polimorfismos, parecendo haver um efeito protector dos alelos maiores e alguma susceptibilidade para os alelos menores. Quando se estudou o número de repetições GGC do gene FMR1 em doentes com suspeita de síndrome de X-frágil observaram-se diferenças significativas quando comparadas com a população em geral e com um grupo de sobredotados. Essa diferença deveu-se principalmente à presença do alelo 29 em quase todos os indivíduos do primeiro grupo o que por si só não constitui um factor de risco mas poderá ser uma indicação da associação deste alelo com outra mutação no mesmo gene que possa ser responsável por este fenótipo.

Avaliação do perfil urinário de biomarcadores do stress oxidativo e a sua correlação com as doenças cardiovasculares

Com a realização deste trabalho pretendeu-se estabelecer o perfil urinário de níveis de biomarcadores do stress oxidativo (5-HMU; UAc; MDA; 8-OHdG) em indivíduos saudáveis (grupo controlo) comparando com o de doenças cardiovasculares (grupo CVD) de modo a avaliar o seu potencial como possíveis biomarcadores da possibilidade de ocorrência de CVD. A extração dos compostos alvos foi realizada por recurso a uma nova técnica extrativa - microextração com adsorvente empacotado em seringa (MEPS) controlada digitalmente (eVol). A análise dos biomarcadores foi efetuada por cromatografia líquida de ultra eficiência (UHPLC) utilizando como coluna analítica a HSS T3 (100 mm × 2,1 mm, 1,7 μm de tamanho da partícula) e com um sistema deteção de fotodiodos (PDA). Otimizaram-se os parâmetros experimentais com influência no processo extrativo, nomeadamente no que se refere ao tipo de adsorvente, á influência do pH, ao volume de amostra, ao número de ciclos extrativos, lavagem e ao volume de eluição. Foram ensaiadas diferentes condições experimentais e selecionadas as que corresponderam a uma maior eficiência extrativa, expressa pela área total relativa dos analitos e reprodutibilidade. Os melhores resultados foram obtidos usando como adsorvente C8, o pH da amostra ajustado a 6, o adsorvente foi carregado com 5x50 μL de amostra e a eluição com 1x50 μL de 0,01% ácido formico e 3x50 μL de 20% metanol. Para a separação cromatográfica dos analitos usou-se uma fase móvel binária (0,01% ácido fórmico:20% metanol), em modo isocrático e um fluxo de 250 μL min-1. O método analítico foi validado em termos de seletividade, linearidade, limite de deteção (LOD), limite de quantificação (LOQ), efeito matriz, exatidão e precisão (intra e interdias) e aplicada a determinação de biomarcadores alvo nos dois grupos estudados, obtiveram-se bons resultados em termos seletividade e linearidade (R2>0,9906), os valores de LOD e LOQ obtidos foram baixos, variando entre 0,00005 - 0,72 μg mL-1 e 0,00023 – 2,31 μg mL-1 respetivamente. Os resultados da percentagem de recuperação (91,06 – 123,02 %), precisão intra-dia (0,95 – 8,34 %), precisão inter-dia (4,58 -6,33 %) e o efeito de matriz (60,11 – 110,29 %) deste método foram satisfatórios. A aplicação da metodologia validada aos dois grupos em estudo permitiu concluir que as concentrações de UAc e MDA entre os dois grupos, contrariamente ao 5-HMU e ao 8- OhdG cujas concentrações são estatisticamente diferentes entre o grupo controlam e o grupo CVD.

Método mãe-canguru: vivência de mães no alojamento conjunto

DAVIM, Rejane Marie Barbosa;ENDERS, Bertha Cruz; DANTAS, Janmilli da Costa; SILVA, Richardson Augusto Rosendo da; NÓBREGA, Edualeide Jeane Pereira Bulhões da. Método mãe-canguru: vivência de mães no alojamento conjunto. Revista da Rede de Enfermagem do Nordeste, Fortaleza, v. 10, n. 1, p. 37-44, jan./mar.2009.

Análise do estado da arte dos aspectos diagnóticos, periciais e jurisprudenciais das LER/DORT no contexto previdenciário das doenças do trabalho no Brasil

Objetivo: analisar o estado da arte dos aspectos diagnósticos, periciais e jurisprudenciais das LER/DORT (Lesões por Esforços Repetitivos / Distúrbios Osteomusculares Relacionados ao Trabalho) no Brasil. Materiais e Método: trata-se de pesquisa descritiva, de natureza qualitativa, com formato documental, utilizando-se a técnica de análise de conteúdo. A avaliação evolutiva da legislação previdenciária relacionada as LER/DORT foi realizada através da pesquisa no banco de dados disponibilizado pelo Governo Federal e mediante a consulta ao DATAPREV/Sislex. A avaliação dos aspectos diagnósticos foi instrumentalizada através, principalmente, de artigos científicos publicados entre 2003 e 2008, nas línguas portuguesa, inglesa, espanhola e francesa, relacionados com os métodos de diagnósticos complementares das LER-DORT (ressonância magnética, tomografia computadorizada, ultrassonografia e eletroneuromiografia). As jurisprudências foram obtidas através da busca dos julgados sobre o tema, entre 2003 e 2008, pertencentes ao Supremo Tribunal Federal, Superior Tribunal de Justiça, Tribunais Regionais Federais, Tribunal Superior do Trabalho e Tribunais Regionais do Trabalho. Resultados: foram identificados 48 artigos abordando os aspectos diagnósticos das LER-DORT, observando-se que os exames por ressonância magnética, ultrassonografia e eletromiografia demonstraram ser mais efetivos, dentro das suas especificidades, para a complementação do exame clínico de patologias relacionadas às LER-DORT. A análise das 123 jurisprudências selecionadas demonstrou, de forma geral, que as LER-DORT equiparam-se ao acidente de trabalho, devendo apresentar nexo de causalidade (atestado através de laudo médico-pericial) e, ainda, ensejam a ação por danos morais, a qual, devido à EC nº 45 passou a ser competência da Justiça do Trabalho. O Estado da arte dos aspectos periciais encontra-se representado pela vigência da Instrução Normativa n. 98/2003, a qual traz como aspecto fundamental a determinação de novos parâmetros a serem considerados na definição de um quadro de LER-DORT, dispondo, ainda, sobre a conduta ética que deve ser adotada pelo médico perito, bem como chama a atenção para a necessidade dessas doenças do trabalho serem comunicadas às autoridadades competentes, através da emissão da Comunicação de Acidente de Trabalho (CAT). Conclusão: as LER-DORT representam, hoje, um problema de importante impacto, não apenas previdenciário, mas também econômico em diversos países, nos quais o Brasil encontra-se inserido. Estudos sobre o estado da arte relacionados às LER-DORT são fundamentais para auxiliar na construção de um modelo crítico e consciente que colabore com a garantia de sustentabilidade do sistema previdenciário no Brasil

Sistemas de informação geográfica e análise espacial de dados como ferramentas para determinação de agregação espacial de doenças: a hanseníase como modelo

This work demonstrates the importance of using tools used in geographic information systems (GIS) and spatial data analysis (SDA) for the study of infectious diseases. Analysis methods were used to describe more fully the spatial distribution of a particular disease by incorporating the geographical element in the analysis. In Chapter 1, we report the historical evolution of these techniques in the field of human health and use Hansen s disease (leprosy) in Rio Grande do Norte as an example. In Chapter 2, we introduced a few basic theoretical concepts on the methodology and classified the types of spatial data commonly treated. Chapters 3 and 4 defined and demonstrated the use of the two most important techniques for analysis of health data, which are data point processes and data area. We modelled the case distribution of Hansen s disease in the city of Mossoró - RN. In the analysis, we used R scripts and made available routines and analitical procedures developed by the author. This approach can be easily used by researchers in several areas. As practical results, major risk areas in Mossoró leprosy were detected, and its association with the socioeconomic profile of the population at risk was found. Moreover, it is clearly shown that his approach could be of great help to be used continuously in data analysis and processing, allowing the development of new strategies to work might increase the use of such techniques in data analysis in health care

Iga total e específica para bactérias enteropatogênicas no colostro e leite de mães da zona rural da Paraíba

Trata-se de um coorte prospectivo com amostras de leite de 28 mães da zona rural da Paraíba, durante diferentes dias de amamentação exclusiva, com objetivo de avaliar através do ensaio imunoenzimático a presença de imunoglobulina A secretora (sIgA) total e específica contra antígenos de Escherichia coli enteropatogênica (EPEC) e Shigella flexneri. A reatividade dos anticorpos foi analisada pelo Western blot . Os resultados mostram presença da sIgA em todas as amostras, com medianas no colostro de 8,092 g/L(4,546-17,252) e leite de 0,695g/L (0,020-2,830). As medianas nos títulos de colostro de IgA anti-EPEC foi 41 (1-659) e anti-Shigella flexneri de 18 (1-4727) enquanto no leite anti-EPEC foi de 8 (1-288) e anti-Shigella flexneri de 6 (1-450). Houve grandes variações entre as mães e entre os dias de amamentação. No Western blot os anticorpos sIgA reagiram com proteínas de EPEC e Shigella flexneri, destacando-se a fração antigênica de 94kDa, correspondente a intimina. Os resultados mostram que a presença de sIgA total e de anticorpos IgA contra EPEC e Shigella flexneri no colostro e leite de mães residentes em zona rural, com precárias condições sócioeconômica e sanitárias, não diferem de estudos realizados com populações de área urbana e reforçam a importância do leite materno na defesa contra infecções entéricas. Apesar da ausência na literatura de estudos avaliando o perfil de anticorpos sIgA no leite de mães residentes em zona rural do Brasil, os resultados demonstraram que a presença de sIgA total e de anticorpos IgA contra EPEC e Shigella flexneri no colostro e leite de mães residentes em zona rural, com precárias condições sócio-econômica e sanitárias, não diferem de estudos realizados com populações de área urbana e reforçam a importância do leite materno na defesa contra infecções entéricas

Avaliação dos parâmetros hematológicos e imunofenotípicos de pacientes com doenças linfoproliferativas crônicas no Rio Grande do Norte

Chronic lymphoproliferative disorders (DLPC) are lymphoid system diseases characterized by the abnormal proliferation of mature lymphocytes that affect B cells, T lymphocytes and NK cells. The aim of the study was to demonstrate the relevance of immunophenotyping by flow cytometry in patients with prolonged lymphocytosis and / or cytomorphological changes compatible with lymphoproliferative diseases. In this study 460 patients (244 men and 216 women) with DLPC were evaluated. Were analyzed by flow cytometry with a panel of monoclonal antibodies consisting of CD3, CD4, CD5, CD8, CD10, CD19, CD22, CD23, CD25, CD38, CD45, CD16/CD56, and HLADR heavy and light chains of immunoglobulins. It also examines information regarding age, gender of patients and laboratory data as leucocytes, cytomorphological analysis, platelet count and hemoglobin determination. The results showed 398 cases of chronic lymphoproliferative disorders and 62 of DLPC B cell lymphoproliferative diseases T. B showed the following distribution : 253 cases of chronic lymphocytic leukemia (CLL), 42 cases of multiple myeloma ( MM ), 37 cases of lymphoma non - Hodgkin lymphoma in leukemic phase (NHL) , 17 cases of pro- B lymphocytic leukemia ( B -PLL), 15 cases of mantle cell lymphoma (MCL ), 12 cases of plasma cell leukemia ( PCL), 9 cases of lymphoma Burkitt (Linf B), 8 cases of leukemia villous cells ( LCV), 3 cases of splenic lymphoma with villous cells (LECV), a case of follicular lymphoma (LF) and a Waldenströn macroglobulinemia ( MW). The diseases source NK / T were 23 cases of peripheral T cell lymphoma (LCTP), 14 cases of T prolymphocytic leukemia (T -PLL), 10 cases of leukemia T of large granular lymphocytes (LGL -T) 9 cases of leukemia cells of adult T (LCTA), 5 cases of Sezary syndrome (SS) and a case of large granular NK leukemia (LGL -NK) lymphocytes. In conclusion, the combined use of the monoclonal antibody panel careful cytomorphological analysis was shown to be essential in immune diagnosis and classification of chronic lymphoproliferative disorders. This study was approved by the IRB - HUOL under number 356 / 09

Estudo eritroleucométrico e proteinograma sérico do sangue do cordão umbilical e jugular de eqüinos ao nascimento e de suas respectivas mães

Colheram-se amostras de sangue do cordão umbilical (SCU) e do sangue circulante de cinco eqüinos neonatos, imediatamente após o nascimento, e o sangue da própria mãe, utilizando-se um sistema a vácuo. O material foi submetido à contagem global de hemácias e leucócitos e à determinação do volume globular e da concentração de hemoglobina; à contagem diferencial de leucócitos em esfregaços sangüíneos; e ao cálculo dos índices eritrocitométricos. Foram realizadas a dosagem de proteínas séricas totais e a eletroforese das proteínas séricas em gel de agarose. Não houve diferenças significativas entre os parâmetros do SCU e do sangue da jugular dos potros. No SCU dos potros observaram-se valores mais elevados para contagem global de hemácias (9,75x10(6)/µl), dosagem de hemoglobina (14,65g/dl) e concentração de hemoglobina corpuscular média (37,23g/dl); e valores menores para volume corpuscular médio (40,50fl), proteína total (4,37g/dl), alfa-globulinas (0,65g/dl), beta-globulinas (1,10g/dl), gama-globulinas (0g/dl) e contagens global (5,40 x 10³/µl) e diferencial de leucócitos, exceto contagem de neutrófilos bastonetes e monócitos, quando comparados com os valores obtidos no sangue de suas mães.

A televisão refletida na escola: a compreensão de mães/educadoras

This work aims to examine the television social representation by mothers/educators as a TV viewers, to understand the meaning of this media in their quotidian and which relations occur between teachers and students in the classroom. The study purpose is the educational television rule, based on a social representation approach. It look for to reveal, through the discourses of five educators who are engaged in pedagogic activities in the Public Elementary School of the Natal city, a significant experience in the media education field progress. It’s also a way to understand which representations the educators have about the television can contribute to aid the idea and critic analysis about the media meaning in the teacher’s formation. Some questions were in the basis of the investigation as: What is the television for the educators who are also TV viewers? How it reaches the classroom? Their relation with the media interfere in the pedagogic practice? Assuming that the verbal technical is one of the formal ways to access the representations, the methodological strategy employed was the open interview, guided by a wide and flexible schedule, leaving the interviewees free to expose their ideas, a attitude adopted to avoid the imposition of interviwer’s points of view, that result in a rich material. Through this strategy it was possible to confirm or to reject presumptions raised in the beginning of the investigation and modify some planning direction lines. The study has as the theory presupposition the contribution of the Mexican researcher Guillermo Orozco Gómez, who, based on the Paulo Freire e Jesús Martín-Barbero ideas, establishes a dialogue between popular Education and the communication theories, mainly the television reception, when he develops an integral view focused on the audience or on the multiple mediations model. The school – and the family, as well – is an important mediator of the media information. The relationship which the teachers establish between the television and their representations about it in their lives reflects effectively and directly on their professional practice and on the media dialogue within the school, it can contribute to the critic reflection which students establish with the media trough the educators mediation

A participação das mães no conselho escolar do CMEI Amor de Mãe

This research aims to study the participation of mothers in the School Council of the Centro Municipal de Educação Infantil Amor de Mãe. The goal is to understand the relationship among concepts that mothers have and their practices as advisors. The historical-philosophical approach taken along the research permitted working with real people and not those derived or idealized ones. It searched an approximation of the mode of being and living of the councilor mothers in their homes, and the concepts and practices in the School Council. It was inspired by ethnographic researches to describe data, habits, cultural practices, meanings and values of people involved. As sources of research, we used: interviews with mothers and school staff; documentary and photographic collection of CMEI Amor de Mãe; local and national legislation; notebooks of the National Program for the Strengthening of School Council (2004); data bank of dissertations and theses of the Post-Graduate Program in Education of the UFRN dealing with democratic management and the relationship school and family. The study indicates the existence of a narrative of the school community that shows mothers as "missing" or "passive" and a practice that point out to how people participate actively in the school routine. This contradiction reveals the existence of a historically constructed school mindset that is rooted in a model of family and school that differs from the reality found in CMEI Amor de Mãe and how families served by CMEI Amor de Mãe organize themselves. It is recommended that the school community and families reorganize the conceptions that guide their practices in educating and caring for children with whom they live and work to make progress together in managing this process

Análise de qualidade da atenção à criança na estratégia saúde da família: o óbito infantil evitável como referência

Alma-Ata declaration bring the Primary Attention to the Health (PAH) as first level of health attention for individuals, family and community, which considers infant group as priority. Several initiatives that gave bases to integral attention to the children health formalized in the principles of Unique Health System. Family Health Strategy (FHS) comes to strengthen this attention, instituting new ways of work organization and professional practices that gave impact in their quality indicators. One of them is children mortality, showing decline in their values. Though, studies indicates persistence of avoidable infant deaths. In Natal RN, this reality is also perceptible leading to inquietudes, mainly at the space of services production, it means, which motivated the accomplishment of the present study intending to analyse the way that the organizational and structural processes as long as the professional practices in FHS interfered in the quality of children s health attention who died by avoidable death in the year of 2007 in municipal district of Natal-RN. It treats, therefore, to an exploratory and descriptive survey of cases study type, thar had as primary sources the oficial documents of MH, the family prontuary, pregnant card, child card and testimony obt ined from instrument of research elaborated based in investigation form of infant death by MH, applied to 10 mothers of children who had avoidable death. In analysis it was appealed silmultaneous triangulation of methods and sources, allowing a bigger aproximation from obtained informations. To elucidate the cases, the aspects studied were analyzed to the light of explicative model of Social Determinants of Health. Among individual and family aspects were highlighted the related to age, schooling, family habits and customs and mother s economic condition, besides of pregnancy age, newborn weight and associated diseases, which don t differ from literature about the theme. Reffering to the factors organizational and structural processes and professionals practice, highlihgted, the treatment given by the professionals, the territorialization and adscription of areas, the difficulty of having access to the services or sleepers and the reference and counterreference. But also, the ausence or few greet, the lack of communication, few assiduity and ponctuality by professionals in service, among others. In a general way mothers considers the attendance received in the hospital good and very good , opnions that in the Basic Attention weren t so favorable, in spite of many of predictible actions in this level have been performed in the studied cases. It is observed, therefore, that the social determinants of health has a strong influence in ocurrence of infant deaths, what implicates in a large actuation by Infant Mortality Committee from municipal district. This way, it becomes fundamental the reflection and evaluation about the effectiveness and execution by the processes of vigilance to health in FHUs; the rethink about the social determinants of health in a wide and articulate way to the services quality, to permanent education, to management in service, to the given attention and to the way how it is installed the popular participation and social control. To the professionals it is presented the great challenge to review their daily practice, their values, behaviors and commitment, which ones must be guided by logical of sharing, work in team, humanescence and alterity, not only by the accomplishment of a professional duty

Atuação do enfermeiro na estratégia de atenção integrada às doenças prevalentes na infância

This study aimed to describe nurses' actions in the strategy of Integrated Management of Childhood Illness in the city of Natal, Rio Grande do Norte. This is a qualitative study with descriptive approach. The universe consisted of nurses from the Family Health Strategy, totaling 16 participants. For the research project was submitted for approval by the Ethics Committee of the Universidade Federal do Rio Grande do Norte, obtaining Opinion No. 187/2012. Data were obtained in two ways: a questionnaire survey to profile the training of nurses and an interview guided by a structured interview. Interviews were treated in the light of analysis of thematic category Bardin. The results showed the central thematic study "Integrated Management of Childhood Illness in the context of nursing activities" category and three analyzes: "Understanding the Integrated Management of Childhood Illness", "Difficulties invibializam use IMCI "and" Working conditions for nurses in the Integrated Management of Childhood Illness. " It is observed that nurses consider the Integrated Management of Childhood Illness useful, effective and important to keep sick children within the logic curative. However disregard the character of health promotion and disease prevention thereof. It was found that the participants still hold the attendance of crinaças within the biomedical model and that these same professionals are subjected to increasingly precarious working conditions and unhealthy due to lack of human and material resources. It was found that the interviewees do not follow the protocols of strategy because of barriers related to prescription medications by nurses, the medical, the lack of incentives, training and supervision by the municipal health and the Regional Nursing Council

Atuação do enfermeiro no acompanhamento do crescimento e desenvolvimento da criança

The nurses assistance in monitoring the growth and development of children has been characterized mostly a service based on the biological dimension of illness, when in reality, the actions should be combined in the reorientation of care model of the Family Health Strategy. Thus, the research aimed to examine the role of nurses in the growth and development of children. This is an exploratory and descriptive, qualitative approach. The project was approved by the Ethics Committee of the Universidade Federal do Rio Grande do Norte under Opinion No. 191/2012. Data collection was developed in the Health Units from the city of Natal, RN, Brazil. Survey participants were nurses who worked in the Family Health Strategy for at least two years and who performed the monitoring of child growth and development in the health unit selected. Data were collected through an in-depth interview, and seized material from speeches was treated as categorical thematic analysis proposed by Bardin. This process revealed three themes, which were analyzed in the light of Relief Models and Process Work in Health and Nursing and discussed based on the findings literary. The results elucidated that nurses consider their performance satisfactory as it has favored the accession of mothers of children under one year nursing visits, contributing to the reduction of morbidity and mortality due to prevalent diseases, as well as the establishment of a connection between the professionals and mothers. It was shown that despite having a promotion and prevention with the use of lightweight technologies, the nurses also emphasized the care of mothers in complaints and signs and symptoms of children, followed by referrals to professionals in the unit or to other sectors. Furthermore, we found that the process of working nurses face challenges regarding the organizational structure of services and social situation of the family. Given these statements, it is observed that despite the strong interference from hegemonic health model in the performance of nurses, it is found that these professionals have been investing in promotion and prevention to injuries to children in care, with a focus on family context. Thus, nurses are embarking on making the reorientation of health care through the use of relational technologies, which has contributed to solving the integral care to the pediatric population