Results 11 to 20 of about 400 (136)
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 +4 more
doaj +1 more source
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía +3 more
wiley +1 more source
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto +8 more
wiley +1 more source
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
ABSTRACT Aims To test whether pre‐exercise galactose and lactose reduce glycaemic excursions during exercise compared with dextrose while maintaining protection against hypoglycaemia compared with placebo in adults with Type 1 diabetes Methods In a randomised, double‐blind, 4‐condition crossover trial, 14 adults with Type 1 diabetes completed four 60 ...
Karoline R. Schmidt +8 more
wiley +1 more source
Descrição 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
ABSTRACT Chronic liver disease in infancy is uncommon, diagnostically demanding, and rarely reported from sub‐Saharan Africa, where advanced hepatologic evaluation is seldom accessible. We describe a one‐year‐old boy from rural Somaliland who presented with a two‐week history of progressive abdominal distension, followed by jaundice, hematemesis and ...
Khadar Jama Ibrahim +3 more
wiley +1 more source
Relato de experiência: 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. Inicial- mente, eram
Tayanna Aparecida Oliveira Santos +2 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
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 Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
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

