Results 31 to 40 of about 1,934 (207)

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, Marqui, Alessandra Bernadete Trovó de   +1 more
core   +1 more source

Factores sociodemográficos maternos asociados con la lactancia materna exclusiva [PDF]

, 2020
Introduction: Breastfeeding is essential for the proper growth and development of children due to its energy and nutritional composition, immunological factors, and safety from a hygienic and health perspective.
Conceição, Sueli Ismael Oliveira, Pinheiro Barbosa, Késya Irene   +1 more
core   +2 more sources

ID293 Triagem neonatal para galactosemia: avaliação econômica de custo-efetividade e impacto orçamentário no brasil

Jornal de Assistência Farmacêutica e Farmacoeconomia
Introdução 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, Fabiana Raynal Floriano, Jose Simon, Ivan Zimmermann, Tatiana Amorim   +4 more
doaj   +1 more source

Cost analysis of universal neonatal screening for inborn errors of metabolism with tandem mass spectrometry in Colombia [PDF]

, 2014
Antecedentes: La espectrometría de masas en tándem permite procesar muchas muestras de sangre seca, enviadas por correo ordinario, para detectar anomalías congénitas. En varios países, estas pruebas se hacen de manera rutinaria.
Rosselli, Diego, Rueda, Juan David, Ruiz-Patiño, Alejandro   +2 more
core   +2 more sources

Efeitos da administração aguda de galactose sobre o estado redox celular em estruturas cerebrais de ratos jovens [PDF]

, 2016
Tese de doutorado apresentada ao Programa de Pós-Graduação em Ciências da Saúde da Universidade do Extremo Sul Catarinense para obtenção do título de Doutor em Ciências da Saúde.A galactosemia é um erro inato do metabolismo em que há deficiência no ...
Castro, Márcia Bairros de
core  

Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context

Molecular Genetics &Genomic Medicine, Volume 13, Issue 5, May 2025.
This cross‐sectional study was conducted from October 2023 to December 2023 at our Hospital of Hangzhou and enrolled individuals who participated in free premarital medical examination and free prepregnancy health examination. A self‐designed questionnaire (Cronbach's α = 0.917) was used to collect the demographic information and KAP scores.
Caixia Hu, Lulu Zhai, Hailian Wang
wiley   +1 more source

Speech and language therapists' insights into severity of speech sound disorders in children for developing the speech sound disorder severity construct

International Journal of Language &Communication Disorders, Volume 60, Issue 3, May/June 2025.
Abstract Background Children with speech sound disorders (SSD) are at higher risk of communication breakdown, but the impact of having an SSD may vary from child to child. Determining the severity of SSD helps speech‐language therapists (SLTs) to recognise the extent of the problem and to identify and prioritise children who require intervention.
Anniek van Doornik, Marlies Welbie, Sharynne McLeod, Ellen Gerrits, Hayo Terband   +4 more
wiley   +1 more source

Galactosemia tipo III [PDF]

, 2013
Un gran número de enfermedades metabólicas pertenecen al grupo de enfermedades clasificadas como enfermedades raras. Las mutaciones en cada una de las tres enzimas encargadas del correcto metabolismo de la galactosa producen un tipo de enfermedad rara ...
Brokate-Llanos, Ana M., Muñoz, Manuel J.   +1 more
core   +1 more source

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Human milk (HM) is the optimal source of nutrition for infants. Yet the suitability of HM macronutrient composition, paired with the challenge of regulating HM intake, may deserve some consideration for infants with inherited metabolic disorders (IMDs) requiring restrictive and controlled dietary management. Except for classic galactosemia, HM
Fatma Ilgaz, Alexander Höller, Cyril Marsaux, Sandra Banta‐Wright, Turgay Coşkun, Kelly A. Dingess, Monika Jörg‐Streller, Camille Newby, Rani Singh, Bernd Stahl, Clare Szwec, Annemiek van Wegberg, Willie Woestenenk, Anita MacDonald, Daniela Karall   +14 more
wiley   +1 more source

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +1 more source