Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais

Detalhes bibliográficos
Autor(a) principal: Silva, Serena Dáfne do Carmo
Data de Publicação: 2019
Outros Autores: Rodrigues, Fernanda Cristina Miranda Santos, Silva, Brenda de Oliveira da
Tipo de documento: Artigo
Idioma: por
Título da fonte: Research, Society and Development
Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/936
Resumo: The present study aims to present the results of urinary screening performed in the Association of Parents and Friends of Exceptional (APAE) of Itabira in an attempt to identify some Metabolism Inborn Errors. Urine samples were collected from students enrolled in APAE / Itabira without a closed diagnosis in medical records. Eight qualitative urine tests were performed to screen for Metabolism Inborn Errors. Those responsible for the students were informed about the research objectives and only the samples of patients who had signed a Free and Informed Consent Form were collected. Samples of 38 students were analyzed, being 29 male and 9 female. In urine screening, 5 positive results were found for Benedict, 4 doubtful and 1 positive for cetyltrimethylammonium bromide (CTMA), 8 doubtful and 4 positive for Ferric Chloride, 2 doubtful for Dinitrophenylhydrazine, and 3 doubtful for Nitrosonaftol. In order to have a reliable definitive diagnosis, it is necessary to correlate the symptomatology presented by the student and the results obtained, sending the analyzed sample to laboratories that perform specific tests to confirm or cancel the diagnostic hypothesis. The frequency of altered samples demonstrates that urinary screening is a method of easy achievement, low cost and high reliability.
id UNIFEI_96277d5117689ad62693d930136c1f52
oai_identifier_str oai:ojs.pkp.sfu.ca:article/936
network_acronym_str UNIFEI
network_name_str Research, Society and Development
repository_id_str
spelling Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas GeraisInvestigación de Errores Inatos de los Metabolismos en la Asociación de Padres y Amigos de los Excepcionales de Itabira - Minas GeraisInvestigação de Erros Inatos do Metabolismos na Associação de Pais e Amigos dos Excepcionais de Itabira – Minas GeraisDiagnóstico GenéticoDoenças Metabólicas HereditáriasTriagem urinária.Diagnóstico GenéticoEnfermedades Metabólicas HereditariasTriaje urinario.Genetic DiagnosisHereditary Metabolic DiseasesUrinary screening.The present study aims to present the results of urinary screening performed in the Association of Parents and Friends of Exceptional (APAE) of Itabira in an attempt to identify some Metabolism Inborn Errors. Urine samples were collected from students enrolled in APAE / Itabira without a closed diagnosis in medical records. Eight qualitative urine tests were performed to screen for Metabolism Inborn Errors. Those responsible for the students were informed about the research objectives and only the samples of patients who had signed a Free and Informed Consent Form were collected. Samples of 38 students were analyzed, being 29 male and 9 female. In urine screening, 5 positive results were found for Benedict, 4 doubtful and 1 positive for cetyltrimethylammonium bromide (CTMA), 8 doubtful and 4 positive for Ferric Chloride, 2 doubtful for Dinitrophenylhydrazine, and 3 doubtful for Nitrosonaftol. In order to have a reliable definitive diagnosis, it is necessary to correlate the symptomatology presented by the student and the results obtained, sending the analyzed sample to laboratories that perform specific tests to confirm or cancel the diagnostic hypothesis. The frequency of altered samples demonstrates that urinary screening is a method of easy achievement, low cost and high reliability.El presente estudio tiene como objetivo presentar los resultados del tamizaje urinario realizado en la Asociación de Padres y Amigos de los Excepcionales (APAE) de Itabira en el intento de identificar algunos Errores Innatos del Metabolismo. Se recogieron muestras de orina de alumnos matriculados en la APAE / Itabira sin diagnóstico cerrado en prontuario. Se realizaron 8 pruebas cualitativas en la orina para la clasificación de Errores Innatos del Metabolismo. Los responsables de los alumnos fueron informados sobre los objetivos de la investigación y solamente fueron recolectadas las muestras de pacientes que presentaron Término de Consentimiento Libre y Esclarecido firmado. Se analizaron muestras de 38 alumnos, siendo 29 sexo masculino y 9 sexo femenino. En el tamizaje urinario se encontraron: 5 resultados positivos para Benedict, 4 dudosos y 1 positivo para Bromuro de ceftalmetona (CTMA), 8 dudosos y 4 positivos para Cloruro Férrico, 2 dudosos para Dinitrofenilhidrazina, y 3 dudosos para Nitrosonaftol. Para que se tenga un diagnóstico definitivo confiable, es necesario hacer la correlación entre la sintomatología presentada por el alumno y los resultados obtenidos, haciendo el encaminamiento de la muestra analizada para laboratorios que realizan pruebas específicas para la confirmación o la anulación de la hipótesis diagnóstica. La frecuencia de muestras alteradas demuestra que la selección de orina es un método de fácil realización, bajo costo y alta confiabilidad.O presente estudo tem como objetivo apresentar os resultados da triagem urinária realizada na Associação de Pais e Amigos dos Excepcionais (APAE) de Itabira na tentativa de identificar alguns Erros Inatos do Metabolismo. Foram coletadas amostras de urina de alunos matriculados na APAE/Itabira sem diagnóstico fechado em prontuário. Foram realizados 8 testes qualitativos na urina para triagem de Erros Inatos do Metabolismo. Os responsáveis pelos alunos foram informados sobre os objetivos da pesquisa e somente foram coletadas as amostras de pacientes que apresentaram Termo de Consentimento Livre e Esclarecido assinado. Foram analisadas amostras de 38 alunos, sendo 29 sexo masculino e 9 sexo feminino. Na triagem urinária foram encontrados: 5 resultados positivos para Benedict, 4 duvidosos e 1 positivo para Brometo de de cetiltrimetilamônio (CTMA), 8 duvidosos e 4 positivos para Cloreto Férrico, 2 duvidosos para Dinitrofenilhidrazina, e 3 duvidosos para Nitrosonaftol. Para que se tenha um diagnóstico definitivo confiável, é necessário fazer a correlação entre a sintomatologia apresentada pelo aluno e os resultados obtidos, fazendo o encaminhamento da amostra analisada para laboratórios que realizam testes específicos para a confirmação ou a anulação da hipótese diagnóstica. A frequência de amostras alteradas demonstra que a triagem urinária é um método de fácil realização, baixo custo e alta confiabilidade.Research, Society and Development2019-02-25info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/93610.33448/rsd-v8i4.936Research, Society and Development; Vol. 8 No. 4; e3884936Research, Society and Development; Vol. 8 Núm. 4; e3884936Research, Society and Development; v. 8 n. 4; e38849362525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/936/781Copyright (c) 2019 Brenda de Oliveira da Silva de Oliveirainfo:eu-repo/semantics/openAccessSilva, Serena Dáfne do CarmoRodrigues, Fernanda Cristina Miranda SantosSilva, Brenda de Oliveira da2020-03-25T16:07:04Zoai:ojs.pkp.sfu.ca:article/936Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:26:10.657579Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false
dc.title.none.fl_str_mv Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
Investigación de Errores Inatos de los Metabolismos en la Asociación de Padres y Amigos de los Excepcionales de Itabira - Minas Gerais
Investigação de Erros Inatos do Metabolismos na Associação de Pais e Amigos dos Excepcionais de Itabira – Minas Gerais
title Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
spellingShingle Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
Silva, Serena Dáfne do Carmo
Diagnóstico Genético
Doenças Metabólicas Hereditárias
Triagem urinária.
Diagnóstico Genético
Enfermedades Metabólicas Hereditarias
Triaje urinario.
Genetic Diagnosis
Hereditary Metabolic Diseases
Urinary screening.
title_short Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
title_full Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
title_fullStr Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
title_full_unstemmed Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
title_sort Investigation of Inborn Errors of Metabolisms in the Association of Parents and Friends of the Exceptional of Itabira – Minas Gerais
author Silva, Serena Dáfne do Carmo
author_facet Silva, Serena Dáfne do Carmo
Rodrigues, Fernanda Cristina Miranda Santos
Silva, Brenda de Oliveira da
author_role author
author2 Rodrigues, Fernanda Cristina Miranda Santos
Silva, Brenda de Oliveira da
author2_role author
author
dc.contributor.author.fl_str_mv Silva, Serena Dáfne do Carmo
Rodrigues, Fernanda Cristina Miranda Santos
Silva, Brenda de Oliveira da
dc.subject.por.fl_str_mv Diagnóstico Genético
Doenças Metabólicas Hereditárias
Triagem urinária.
Diagnóstico Genético
Enfermedades Metabólicas Hereditarias
Triaje urinario.
Genetic Diagnosis
Hereditary Metabolic Diseases
Urinary screening.
topic Diagnóstico Genético
Doenças Metabólicas Hereditárias
Triagem urinária.
Diagnóstico Genético
Enfermedades Metabólicas Hereditarias
Triaje urinario.
Genetic Diagnosis
Hereditary Metabolic Diseases
Urinary screening.
description The present study aims to present the results of urinary screening performed in the Association of Parents and Friends of Exceptional (APAE) of Itabira in an attempt to identify some Metabolism Inborn Errors. Urine samples were collected from students enrolled in APAE / Itabira without a closed diagnosis in medical records. Eight qualitative urine tests were performed to screen for Metabolism Inborn Errors. Those responsible for the students were informed about the research objectives and only the samples of patients who had signed a Free and Informed Consent Form were collected. Samples of 38 students were analyzed, being 29 male and 9 female. In urine screening, 5 positive results were found for Benedict, 4 doubtful and 1 positive for cetyltrimethylammonium bromide (CTMA), 8 doubtful and 4 positive for Ferric Chloride, 2 doubtful for Dinitrophenylhydrazine, and 3 doubtful for Nitrosonaftol. In order to have a reliable definitive diagnosis, it is necessary to correlate the symptomatology presented by the student and the results obtained, sending the analyzed sample to laboratories that perform specific tests to confirm or cancel the diagnostic hypothesis. The frequency of altered samples demonstrates that urinary screening is a method of easy achievement, low cost and high reliability.
publishDate 2019
dc.date.none.fl_str_mv 2019-02-25
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/936
10.33448/rsd-v8i4.936
url https://rsdjournal.org/index.php/rsd/article/view/936
identifier_str_mv 10.33448/rsd-v8i4.936
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/936/781
dc.rights.driver.fl_str_mv Copyright (c) 2019 Brenda de Oliveira da Silva de Oliveira
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 2019 Brenda de Oliveira da Silva de Oliveira
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Research, Society and Development
publisher.none.fl_str_mv Research, Society and Development
dc.source.none.fl_str_mv Research, Society and Development; Vol. 8 No. 4; e3884936
Research, Society and Development; Vol. 8 Núm. 4; e3884936
Research, Society and Development; v. 8 n. 4; e3884936
2525-3409
reponame:Research, Society and Development
instname:Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI
instname_str Universidade Federal de Itajubá (UNIFEI)
instacron_str UNIFEI
institution UNIFEI
reponame_str Research, Society and Development
collection Research, Society and Development
repository.name.fl_str_mv Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)
repository.mail.fl_str_mv rsd.articles@gmail.com
_version_ 1797052801778450432

Registros relacionados