Results 21 to 30 of about 202 (131)
Jornal de Assistência Farmacêutica e FarmacoeconomiaIntrodução A avaliação econômica da utilização da estratégia de triagem neonatal universal para galactosemia no SUS (Sistema Único de Saúde), por meio da ampliação do escopo de patologias do Programa Nacional de Triagem Neonatal (PNTN), já aprovado ...
Ney Boa Sorte +4 more
doaj +1 more source
Triagem neonatal em Santa Catarina [PDF]
, 2023 Nesta webpalestra será abordada a triagem neonatal biológica, conhecida como teste do pezinho. Trata-se do rastreamento de doenças que ainda não apresentaram sintomas, com a possibilidade de tratamento prevenindo desfechos desfavoráveis, como óbito e ...
UFSC, Telessaúde
core
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
The Parmesan Cheese Model System: Alleviation of Browning Defect in Parmesan Cheese [PDF]
, 2020 In cold temperature storage, Parmesan cheese can develop an undesirable browning defect. Certain pyrazine compounds converted from methylglyoxal have been identified and associated with the brown pigmentations in Parmesan cheese samples.
Aubrey, Megan Huegli
core +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Acta Paediatrica, 1954 SummaryComparative galactose tolerance tests have been carried out in one patient suffering from galactosemia and in three patients suffering from hepatic lesions of varying etiology. The findings indicate that galactosemia is an independent primary disease, in causal relation to isolated enzyme deficiency in the liver.
openaire +3 more sources
Clinical Genetics, EarlyView.Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Jornal de Assistência Farmacêutica e FarmacoeconomiaDescrição do relato: O Programa Nacional de Triagem Neonatal identifica precocemente doenças metabólicas, genéticas, enzimáticas e endocrinológicas, permitindo tratamento oportuno. A SES/MG gerencia os fluxos dessa triagem no SUS.
Luciana Cássia Oliveira Barbosa +2 more
doaj +1 more source
Nursing care in the guthrie test - Assistência de enfermagem no teste do pezinho [PDF]
, 2023 Objective: to describe nursing care in the performance of the guthrie test in newborns. Method: exploratory, descriptive study of qualitative nature, with the Basic Health Units of the city of Uberaba-Minas Gerais as the setting.
Carvalho, Fernanda Gomes +1 more
core +1 more source
Health Science Reports, Volume 9, Issue 5, May 2026.ABSTRACT Background Foreseeing how policy impacts pregnant women and infants is limited by ethical challenges of experimental research within these groups. The COVID‐19 pandemic generated natural experiments, offering rare opportunities to explore associations between specific policy responses and maternal‐infant health outcomes.
Ashleigh Shipton +4 more
wiley +1 more source