Identificação de biomarcadores para casos de microcefalia
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Tipo de documento: | Tese |
Idioma: | por |
Título da fonte: | Biblioteca Digital de Teses e Dissertações da UFPB |
Texto Completo: | https://repositorio.ufpb.br/jspui/handle/123456789/21529 |
Resumo: | Microcephaly is a clinical finding and can result from congenital anomalies or originate after delivery. Congenital malformations, including microcephaly, have a complex and multifactorial etiology, which can occur as a result of infectious processes during pregnancy. The increase in microcephaly reports in Brazil triggered great difficulties in the specific diagnosis and identification of the etiological agents of microcephaly. Thus, it becomes evident the need to develop new diagnostic methodologies that facilitate and make the diagnosis of microcephaly cheaper. In this sense, the main objective of this study was to identify biomarkers for cases of microcephaly. To meet this objective, the study population consisted of children born and cared for in public health services in the state of Paraíba, as of August 1, 2015. The sample was composed of two groups, one being experimental, formed by children with microcephaly and a control, composed of cognitively healthy children cared for in the health services of the Paraíba State Network. The research involved the following steps: 1- identification of biomarkers from an integrative review; 2- validation of biomarkers in blood samples; and 3- development of the diagnostic kit. The data were presented in the format of mean ± standard error of the mean. Statistical analyzes of the results were performed by comparing the means, to determine the differences between the groups, as well as by correlation tests, to determine the interrelationship of the biomarkers and microcephaly. The research project was approved by the Research Ethics Committee (CEP), opinion number 2,242,701, following the rules of the National Research Ethics Commission (CONEP) for research involving human beings (Resolution No. 466/12 of the National Council de Saúde / MS.dispensável At the end of the integrative review, 2 genes with the greatest potential to serve as markers for microcephaly were identified, namely: alpha-synuclein (SNCA) and neuregulin (NRG). some pairs of primers for each gene and after evaluation, the most efficient pairs were identified for each gene. Subsequently, PCR analyzes were performed and it was verified for both genes an increase in expression in the microcephalic group, demonstrating that these genes can be used as markers for microcephaly. Finally, we point out that the identified markers are essential to produce a diagnostic kit for microcephaly provides a f essential tool to solve the great laboratory difficulty of specific diagnosis of the cases of this syndrome. In addition, the development of this kit resulted in obtaining a biotechnological resource aimed at advances in public health. |
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Identificação de biomarcadores para casos de microcefaliaMicrocefaliaTeste diagnósticoBiotecnologiaBiomarcadoresMicrocephalyDiagnostic testeCNPQ::CIENCIAS BIOLOGICASMicrocephaly is a clinical finding and can result from congenital anomalies or originate after delivery. Congenital malformations, including microcephaly, have a complex and multifactorial etiology, which can occur as a result of infectious processes during pregnancy. The increase in microcephaly reports in Brazil triggered great difficulties in the specific diagnosis and identification of the etiological agents of microcephaly. Thus, it becomes evident the need to develop new diagnostic methodologies that facilitate and make the diagnosis of microcephaly cheaper. In this sense, the main objective of this study was to identify biomarkers for cases of microcephaly. To meet this objective, the study population consisted of children born and cared for in public health services in the state of Paraíba, as of August 1, 2015. The sample was composed of two groups, one being experimental, formed by children with microcephaly and a control, composed of cognitively healthy children cared for in the health services of the Paraíba State Network. The research involved the following steps: 1- identification of biomarkers from an integrative review; 2- validation of biomarkers in blood samples; and 3- development of the diagnostic kit. The data were presented in the format of mean ± standard error of the mean. Statistical analyzes of the results were performed by comparing the means, to determine the differences between the groups, as well as by correlation tests, to determine the interrelationship of the biomarkers and microcephaly. The research project was approved by the Research Ethics Committee (CEP), opinion number 2,242,701, following the rules of the National Research Ethics Commission (CONEP) for research involving human beings (Resolution No. 466/12 of the National Council de Saúde / MS.dispensável At the end of the integrative review, 2 genes with the greatest potential to serve as markers for microcephaly were identified, namely: alpha-synuclein (SNCA) and neuregulin (NRG). some pairs of primers for each gene and after evaluation, the most efficient pairs were identified for each gene. Subsequently, PCR analyzes were performed and it was verified for both genes an increase in expression in the microcephalic group, demonstrating that these genes can be used as markers for microcephaly. Finally, we point out that the identified markers are essential to produce a diagnostic kit for microcephaly provides a f essential tool to solve the great laboratory difficulty of specific diagnosis of the cases of this syndrome. In addition, the development of this kit resulted in obtaining a biotechnological resource aimed at advances in public health.NenhumaA microcefalia constitui em um achado clínico e pode decorrer de anomalias congênitas ou ter origem após o parto. As malformações congênitas, dentre elas a microcefalia, têm etiologia complexa e multifatorial, podendo ocorrer em decorrência de processos infecciosos durante a gestação. O aumento das notificações de microcefalia no Brasil desencadeou grandes dificuldades no diagnóstico específico e identificação dos agentes etiológicos da microcefalia. Sendo assim, torna-se evidente a necessidade de desenvolvimento de novas metodologias diagnósticas que facilitem e tornem mais barato o diagnóstico da microcefalia. Nesse sentido, o objetivo principal deste estudo foi identificar biomarcadores para casos de microcefalia. Para atender a esse objetivo, a população do estudo foi composta por crianças nascidas e atendidas nos serviços de saúde da rede pública no estado da Paraíba, a partir de 01 de agosto de 2015. A amostra foi composta por dois grupos, sendo um experimental, formado por crianças com microcefalia e um controle, composto por crianças cognitivamente saudáveis atendidas nos serviços de saúde da Rede Estadual da Paraíba. A pesquisa envolveu as seguintes etapas: 1- identificação de biomarcadores a partir de revisão integrativa; 2- validação dos biomarcadores em amostras de sangue; e 3- desenvolvimento do kit diagnóstico. Os dados foram apresentados no formato de média±erro padrão da média. As análises estatísticas dos resultados foram efetuadas por comparação das médias, para determinar as diferenças entre os grupos, bem como por testes de correlação, para determinar a inter-relação dos biomarcadores e a microcefalia. O projeto de pesquisa teve aprovação do Comitê de Ética em Pesquisa (CEP), parecer número 2.242.701, seguindo as normas da Comissão Nacional de Ética em Pesquisa (CONEP) para a pesquisa envolvendo seres humanos (Resolução no 466/12 do Conselho Nacional de Saúde/MS.dispensável Ao final da revisão integrativa, foram identificados 2 genes com maior potencialidade para servirem de marcadores para a microcefalia, sendo eles: a alfa-sinucleina (SNCA) e neuregulina (NRG). Para a validação biológica, foram projetados alguns pares de primers para cada gene e após avaliação, identificou-se os pares de maior eficiência para cada gene. Posteriormente, foram realizadas as análises de PCR e verificou-se para ambos os genes ocorreu aumento da expressão no grupo de microcefálicos, demonstrando que esses genes podem ser utilizados como marcadores para microcefalia. Por fim ressaltamos que os marcadores identificados são fundamentais para produzir um kit diagnóstico para microcefalia disponibiliza uma ferramenta essencial para solucionar a grande dificuldade laboratorial de diagnóstico específico dos casos dessa síndrome. Além disso, o desenvolvimento desse kit resultou na obtenção de um recurso biotecnológico voltado para os avanços da saúde pública.Universidade Federal da ParaíbaBrasilBiotecnologiaPrograma de Pós-Graduação em BiotecnologiaUFPBGomes, Enéas Ricardo de Moraishttp://lattes.cnpq.br/2707212883421135Nóbrega, Renata Valéria2021-12-09T18:21:16Z2021-05-272021-12-09T18:21:16Z2020-08-27info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/doctoralThesishttps://repositorio.ufpb.br/jspui/handle/123456789/21529porAttribution-NoDerivs 3.0 Brazilhttp://creativecommons.org/licenses/by-nd/3.0/br/info:eu-repo/semantics/openAccessreponame:Biblioteca Digital de Teses e Dissertações da UFPBinstname:Universidade Federal da Paraíba (UFPB)instacron:UFPB2022-08-09T16:42:58Zoai:repositorio.ufpb.br:123456789/21529Biblioteca Digital de Teses e Dissertaçõeshttps://repositorio.ufpb.br/PUBhttp://tede.biblioteca.ufpb.br:8080/oai/requestdiretoria@ufpb.br|| diretoria@ufpb.bropendoar:2022-08-09T16:42:58Biblioteca Digital de Teses e Dissertações da UFPB - Universidade Federal da Paraíba (UFPB)false |
dc.title.none.fl_str_mv |
Identificação de biomarcadores para casos de microcefalia |
title |
Identificação de biomarcadores para casos de microcefalia |
spellingShingle |
Identificação de biomarcadores para casos de microcefalia Nóbrega, Renata Valéria Microcefalia Teste diagnóstico Biotecnologia Biomarcadores Microcephaly Diagnostic teste CNPQ::CIENCIAS BIOLOGICAS |
title_short |
Identificação de biomarcadores para casos de microcefalia |
title_full |
Identificação de biomarcadores para casos de microcefalia |
title_fullStr |
Identificação de biomarcadores para casos de microcefalia |
title_full_unstemmed |
Identificação de biomarcadores para casos de microcefalia |
title_sort |
Identificação de biomarcadores para casos de microcefalia |
author |
Nóbrega, Renata Valéria |
author_facet |
Nóbrega, Renata Valéria |
author_role |
author |
dc.contributor.none.fl_str_mv |
Gomes, Enéas Ricardo de Morais http://lattes.cnpq.br/2707212883421135 |
dc.contributor.author.fl_str_mv |
Nóbrega, Renata Valéria |
dc.subject.por.fl_str_mv |
Microcefalia Teste diagnóstico Biotecnologia Biomarcadores Microcephaly Diagnostic teste CNPQ::CIENCIAS BIOLOGICAS |
topic |
Microcefalia Teste diagnóstico Biotecnologia Biomarcadores Microcephaly Diagnostic teste CNPQ::CIENCIAS BIOLOGICAS |
description |
Microcephaly is a clinical finding and can result from congenital anomalies or originate after delivery. Congenital malformations, including microcephaly, have a complex and multifactorial etiology, which can occur as a result of infectious processes during pregnancy. The increase in microcephaly reports in Brazil triggered great difficulties in the specific diagnosis and identification of the etiological agents of microcephaly. Thus, it becomes evident the need to develop new diagnostic methodologies that facilitate and make the diagnosis of microcephaly cheaper. In this sense, the main objective of this study was to identify biomarkers for cases of microcephaly. To meet this objective, the study population consisted of children born and cared for in public health services in the state of Paraíba, as of August 1, 2015. The sample was composed of two groups, one being experimental, formed by children with microcephaly and a control, composed of cognitively healthy children cared for in the health services of the Paraíba State Network. The research involved the following steps: 1- identification of biomarkers from an integrative review; 2- validation of biomarkers in blood samples; and 3- development of the diagnostic kit. The data were presented in the format of mean ± standard error of the mean. Statistical analyzes of the results were performed by comparing the means, to determine the differences between the groups, as well as by correlation tests, to determine the interrelationship of the biomarkers and microcephaly. The research project was approved by the Research Ethics Committee (CEP), opinion number 2,242,701, following the rules of the National Research Ethics Commission (CONEP) for research involving human beings (Resolution No. 466/12 of the National Council de Saúde / MS.dispensável At the end of the integrative review, 2 genes with the greatest potential to serve as markers for microcephaly were identified, namely: alpha-synuclein (SNCA) and neuregulin (NRG). some pairs of primers for each gene and after evaluation, the most efficient pairs were identified for each gene. Subsequently, PCR analyzes were performed and it was verified for both genes an increase in expression in the microcephalic group, demonstrating that these genes can be used as markers for microcephaly. Finally, we point out that the identified markers are essential to produce a diagnostic kit for microcephaly provides a f essential tool to solve the great laboratory difficulty of specific diagnosis of the cases of this syndrome. In addition, the development of this kit resulted in obtaining a biotechnological resource aimed at advances in public health. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-08-27 2021-12-09T18:21:16Z 2021-05-27 2021-12-09T18:21:16Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/doctoralThesis |
format |
doctoralThesis |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://repositorio.ufpb.br/jspui/handle/123456789/21529 |
url |
https://repositorio.ufpb.br/jspui/handle/123456789/21529 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.rights.driver.fl_str_mv |
Attribution-NoDerivs 3.0 Brazil http://creativecommons.org/licenses/by-nd/3.0/br/ info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Attribution-NoDerivs 3.0 Brazil http://creativecommons.org/licenses/by-nd/3.0/br/ |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Universidade Federal da Paraíba Brasil Biotecnologia Programa de Pós-Graduação em Biotecnologia UFPB |
publisher.none.fl_str_mv |
Universidade Federal da Paraíba Brasil Biotecnologia Programa de Pós-Graduação em Biotecnologia UFPB |
dc.source.none.fl_str_mv |
reponame:Biblioteca Digital de Teses e Dissertações da UFPB instname:Universidade Federal da Paraíba (UFPB) instacron:UFPB |
instname_str |
Universidade Federal da Paraíba (UFPB) |
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UFPB |
institution |
UFPB |
reponame_str |
Biblioteca Digital de Teses e Dissertações da UFPB |
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Biblioteca Digital de Teses e Dissertações da UFPB |
repository.name.fl_str_mv |
Biblioteca Digital de Teses e Dissertações da UFPB - Universidade Federal da Paraíba (UFPB) |
repository.mail.fl_str_mv |
diretoria@ufpb.br|| diretoria@ufpb.br |
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