Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/220922 |
Resumo: | Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current natural history of this group of diseases, and leading to a better outcome for the affected patients. |
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Kubaski, FrancyneSousa, InêsAmorim, TatianaPereira, DaniloTrometer, JoeSouza, AlexandreRanieri, EnzoPolo, GiuliaBurlina, A.Facchin, Ana Carolina BrusiusNetto, Alice Brinckmann OliveiraTomatsu, ShunjiGiugliani, Roberto2021-05-13T04:27:54Z20202409-515Xhttp://hdl.handle.net/10183/220922001121956Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current natural history of this group of diseases, and leading to a better outcome for the affected patients.application/pdfengInternational journal of neonatal screening. Basel. Vol. 6, no. 4 (2020), 90, 10 p.MucopolissacaridosesTriagem neonatalGlicosaminoglicanosEnsaios enzimáticosEspectrometria de massas em TandemFluorometriaAmérica LatinaMucopolysaccharidosisNewborn screeningGlycosaminoglycansEnzyme assaysTandem mass spectrometryFluorimetryNeonatal screening for MPS disorders in Latin America : a survey of pilot initiativesEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001121956.pdf.txt001121956.pdf.txtExtracted Texttext/plain34046http://www.lume.ufrgs.br/bitstream/10183/220922/2/001121956.pdf.txt1382d5258aa5c698ae62fecc64aeab25MD52ORIGINAL001121956.pdfTexto completo (inglês)application/pdf1600279http://www.lume.ufrgs.br/bitstream/10183/220922/1/001121956.pdf710cb0082d7a7f79e875ba5e5eb57634MD5110183/2209222022-09-21 04:54:25.686052oai:www.lume.ufrgs.br:10183/220922Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2022-09-21T07:54:25Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives |
title |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives |
spellingShingle |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives Kubaski, Francyne Mucopolissacaridoses Triagem neonatal Glicosaminoglicanos Ensaios enzimáticos Espectrometria de massas em Tandem Fluorometria América Latina Mucopolysaccharidosis Newborn screening Glycosaminoglycans Enzyme assays Tandem mass spectrometry Fluorimetry |
title_short |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives |
title_full |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives |
title_fullStr |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives |
title_full_unstemmed |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives |
title_sort |
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives |
author |
Kubaski, Francyne |
author_facet |
Kubaski, Francyne Sousa, Inês Amorim, Tatiana Pereira, Danilo Trometer, Joe Souza, Alexandre Ranieri, Enzo Polo, Giulia Burlina, A. Facchin, Ana Carolina Brusius Netto, Alice Brinckmann Oliveira Tomatsu, Shunji Giugliani, Roberto |
author_role |
author |
author2 |
Sousa, Inês Amorim, Tatiana Pereira, Danilo Trometer, Joe Souza, Alexandre Ranieri, Enzo Polo, Giulia Burlina, A. Facchin, Ana Carolina Brusius Netto, Alice Brinckmann Oliveira Tomatsu, Shunji Giugliani, Roberto |
author2_role |
author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Kubaski, Francyne Sousa, Inês Amorim, Tatiana Pereira, Danilo Trometer, Joe Souza, Alexandre Ranieri, Enzo Polo, Giulia Burlina, A. Facchin, Ana Carolina Brusius Netto, Alice Brinckmann Oliveira Tomatsu, Shunji Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Mucopolissacaridoses Triagem neonatal Glicosaminoglicanos Ensaios enzimáticos Espectrometria de massas em Tandem Fluorometria América Latina |
topic |
Mucopolissacaridoses Triagem neonatal Glicosaminoglicanos Ensaios enzimáticos Espectrometria de massas em Tandem Fluorometria América Latina Mucopolysaccharidosis Newborn screening Glycosaminoglycans Enzyme assays Tandem mass spectrometry Fluorimetry |
dc.subject.eng.fl_str_mv |
Mucopolysaccharidosis Newborn screening Glycosaminoglycans Enzyme assays Tandem mass spectrometry Fluorimetry |
description |
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current natural history of this group of diseases, and leading to a better outcome for the affected patients. |
publishDate |
2020 |
dc.date.issued.fl_str_mv |
2020 |
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2021-05-13T04:27:54Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
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publishedVersion |
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http://hdl.handle.net/10183/220922 |
dc.identifier.issn.pt_BR.fl_str_mv |
2409-515X |
dc.identifier.nrb.pt_BR.fl_str_mv |
001121956 |
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2409-515X 001121956 |
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http://hdl.handle.net/10183/220922 |
dc.language.iso.fl_str_mv |
eng |
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eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
International journal of neonatal screening. Basel. Vol. 6, no. 4 (2020), 90, 10 p. |
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info:eu-repo/semantics/openAccess |
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openAccess |
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