Neonatal Screening
Mostrando 25-36 de 202 artigos, teses e dissertações.
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25. Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia
Abstract Introduction: Preterm infants (<37 weeks of gestation) have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH) in the program congenital hypothyroidism (CH) newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Di
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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26. Basic heel prick test: inclusion of screening, diagnosis and criteria for early confirmation of congenital infection by Toxoplasma gondii
ABSTRACT Toxoplasma gondii can cross the placental barrier, causing fetal infection with potentially severe sequelae. The aim of this study was to evaluate whether the serological screening for toxoplasmosis should be included in the basic neonatal heel prick test in order to establish criteria for the confirmation and/or exclusion of the diagnosis of congen
Rev. Inst. Med. trop. S. Paulo. Publicado em: 19/06/2019
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27. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12
Rev. paul. pediatr.. Publicado em: 03/06/2019
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28. The Role of Technology in the Neonatal Screening Laboratory
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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29. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba: An Overview of the First 30 Years
Abstract The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs) for
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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30. Teste do pezinho: condições materno-fetais que podem interferir no exame em recém-nascidos atendidos na unidade de terapia intensiva
RESUMO Objetivo: Descrever as características do teste do pezinho dos neonatos atendidos na unidade de terapia intensiva de um hospital universitário, bem como verificar se existiam condições maternas e fetais que pudessem interferir no resultado desse exame. Métodos: Estudo retrospectivo longitudinal de abordagem quantitativa que avaliou 240 prontuá
Rev. bras. ter. intensiva. Publicado em: 23/05/2019
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31. The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population
Abstract Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborns and to correlate it based on their sex, gestation
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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32. Chilean Nutrition Management Protocol for Patients With Phenylketonuria
Abstract Since neonatal screening and early nutritional treatment began, it has been possible to reverse the neurological damage that phenylketonuria (PKU) causes. Scientific evidence gathered over more than 50 years on the monitoring of individuals with PKU indicates that a phenylalanine level of about 6 mg/dL (360 µmol/L) is ideal and points to the necess
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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33. Association between ankyloglossia and breastfeeding
RESUMO Objetivo Verificar associação entre anquiloglossia e amamentação. Método Estudo transversal, realizado em 130 recém-nascidos, em um Hospital Universitário. Foram incluídos recém-nascidos entre um a cinco dias de vida, com Apgar score ≥ 8, em aleitamento materno exclusivo. Participaram da pesquisa apenas recém-nascidos de termo e saudá
CoDAS. Publicado em: 25/02/2019
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34. Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
Abstract We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 1
Genet. Mol. Biol.. Publicado em: 04/06/2018
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35. Systematic neonatal screening for congenital Chagas disease in Northeast Brazil: prevalence of Trypanosoma cruzi infection in the Southern region of Sergipe
Abstract INTRODUCTION: Chagas disease is caused by the flagellate protozoan Trypanosoma cruzi, being one of the leading causes of morbidity and mortality in the Americas with an estimated six to seven million infected people worldwide. In Brazil, the improvement in vector control and blood donor screening has evidenced the important epidemiological role of
Rev. Soc. Bras. Med. Trop.. Publicado em: 2018-06
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36. Effects of drying and storage conditions on the stability of TSH in blood spots
ABSTRACT Objective To evaluate the influence of sample drying and storage temperature on TSH stability in neonatal screening. Subjects and methods Blood samples from 29 adult volunteers as a surrogate for neonatal blood (10 with normal TSH, 9 with overt hypothyroid and 10 with subclinical hypothyroidism) were spotted on filter paper and dried at 22°C or 3
Arch. Endocrinol. Metab.. Publicado em: 05/04/2018