Browsing Health Sciences by Subject "Newborn screening"
Now showing items 1-14 of 14
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Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul
(2018) [Journal article]Introduction: Newborn screening allows the screening of diseases that are still in the asymptomatic period and whose early diagnosis and treatment are associated with reduced infant morbidity and mortality. The aim of this ... -
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation
(2019) [Journal article]Objective To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods ... -
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases
(2021) [Journal article]Aromatic L-amino acid decarboxylase (AADCD) deficiency is an autosomal recessive neurometabolic disorder, caused by biallelic mutations in the DDC gene, that impairs the synthesis or metabolism of neurotransmitters leading ... -
Liquid chromatography–Tandem mass spectrometry in newborn screening laboratories
(2022) [Journal article]Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the ... -
Long-term outcomes of systemic therapies for Hurler syndrome : an international multicenter comparison
(2018) [Journal article]Purpose: Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate ... -
Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
(2012) [Journal article]After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported in the middle of the twentieth century concerning the presence ... -
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives
(2020) [Journal article]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 ... -
Newborn screening for biotinidase deficiency in Brazil : biochemical and molecular characterizations
(2004) [Journal article]Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using ... -
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays
(2020) [Journal article]Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and ... -
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
(2022) [Journal article]Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, ... -
Programa de triagem auditiva neonatal : resultados de um Hospital Universitário de Porto Alegre
(2012) [Journal article]Objetivos: Apresentar resultados obtidos no Programa de triagem auditiva neonatal (PTAN) e verificar se estão dentro das recomendações do Comitê Brasileiro sobre Perdas Auditivas na Infância) para a Triagem Auditiva Neonatal ... -
Red reflex test at the maternity hospital : results from a tertiary hospital and variables associated within conclusive test results
(2020) [Journal article]Objectives: Describe the results of the red reflex test in full-term newborns, as well as identifyfactors associated with red reflex test outcome and compare hospital length of stay betweenpatients with inconclusive and ... -
Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications in neonatal screening and diagnostic confirmation of lysosomal disorders
(2022) [Journal article]Introduction: Dried blood spot (DBS) samples have been used for diagnostic purposes since its introduction for the neonatal screening of phenylketonuria almost 50 years ago. From that time onwards, the range of its ... -
Twenty years of neonatal screening for sickle cell disease in Brazil : the challenges of a continental country with high genetic heterogeneity
(2021) [Journal article]Sickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide. Through ...