Triagem neonatal biológica brasileira: revisão integrativa

Kohn, Daiana Cristina; Ramos, Domênica Bossardi; Linch, Graciele Fernanda da Costa

doi:10.34019/1809-8363.2022.v25.34474

Rev. APS

2022

DOI: 10.34019/1809-8363.2022.v25.34474

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Triagem neonatal biológica brasileira: revisão integrativa

Daiana Cristina Kohn,

Domênica Bossardi Ramos,

Graciele Fernanda da Costa Linch

Abstract: Objetivo: Conhecer as publicações científicas relacionadas à triagem neonatal biológica brasileira. Método: Revisão integrativa nas bases de dados Scielo, SCOPUS, PubMed e Biblioteca Virtual. Descritores utilizados na busca: “Neonatal screening” AND Nursing AND Newborn. Critérios de inclusão: estudos sobre triagem neonatal brasileira, publicados entre 2016 e 2020, nos idiomas português, inglês ou espanhol, que respondessem à questão norteadora. Resultados: Selecionados oito artigos, os dados foram agrupados po… Show more

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2024

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Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening

Romanelli Tavares,

Mendonça,

Toledo

et al. 2024

Genes

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In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis. This work addresses key considerations in implementing 5q-SMA screening within the Brazilian National Newborn Screening Program and explores Brazil’s unique challenges and opportunities, including genetic tests, time-to-patient referral to specialized centers, program follow-up, and treatment algorithms. We aim to guide healthcare professionals and policymakers, facilitating global discussions, including Latin American countries, and knowledge-sharing on this critical subject to improve the care for newborns identified with 5q SMA.

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Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening

Romanelli Tavares,

Mendonça,

Toledo

et al. 2024

Genes

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show abstract

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Triagem neonatal biológica brasileira: revisão integrativa

Cited by 1 publication

References 20 publications

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening

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