Dried Blood Spots
Mostrando 1-12 de 37 artigos, teses e dissertações.
-
1. Comparison of glucose measurement on dried blood spots versus plasma samples in pregnant women with and without anemia
ABSTRACT Objective Compare the concordance degree between plasma glucose and glucose measurements on Dried Blood Spots (DBS) during pregnancy. Subjects and methods Glucose measurement was performed in pregnant women after a fast of 8-12 hours. Venous blood was collected with sodium fluoride, the plasma was separated, and glucose measured by the enzymatic
Arch. Endocrinol. Metab.. Publicado em: 2020-08
-
2. Evaluation of the Genetic Screening Processor for the Performance of Newborn Screening Tests
Abstract The collection of dried blood spots (DBSs) on filter paper has been a powerful tool in newborn screening (NBS) programs and in other fields. However, filter paper has been associated with some level of imprecision due to the filter paper matrix effect. In order to minimize measurement variations, these interferences should be evaluated by NBS assays
J. inborn errors metab. screen.. Publicado em: 30/05/2019
-
3. Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
Abstract Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In the current work, we evaluated the performance of tandem mass spectrometry (MS/MS) for the detectio
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
4. Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges
Abstract Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatog
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
5. Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center
Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell metabolism. Since a considerable number of such disorders are potentially treatable when diagnosed at a
Genet. Mol. Biol.. Publicado em: 11/04/2019
-
6. 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
-
7. Determinação simultânea de carbamazepina, fenitoína e fenobarbital em sangue seco em papel por cromatografia líquida de alta eficiência
Carbamazepine, phenobarbital and phenytoin were determined in dried blood spots (DBS) by high performance liquid chromatography, after extraction of 8 mm DBS using a mixture of acetonitrile and methanol. Analytes were separated by reversed-phase chromatography, with a run time of 17 minutes. Intra-assay and inter-assay precisions were in the 5.3 to 8.4% and
Quím. Nova. Publicado em: 2014-07
-
8. Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry
OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tan
Clinics. Publicado em: 2013-11
-
9. Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry
Acylcarnitine profiling by electrospray ionization tandem mass spectrometry (ESI-MS/MS) is a potent tool for the diagnosis and screening of fatty acid oxidation and organic acid disorders. Few studies have analyzed free carnitine and acylcarnitines in dried blood spots (DBS) of umbilical cord blood (CB) and the postnatal changes in the concentrations of thes
Brazilian Journal of Medical and Biological Research. Publicado em: 2012-06
-
10. Early diagnosis of congenital toxoplasmosis in newborn infants using IgG subclasses against two Toxoplasma gondii recombinant proteins
The aim of this work was to evaluate the utility of ELISA-based testing of total IgG (IgGt) antibodies and its subclasses (IgG1, IgG2, IgG3 and IgG4) against soluble (STAg) and recombinant (rSAG1 and rMIC3) antigens of Toxoplasma gondii for diagnosing congenital toxoplasmosis. Sera from 217 newborns initially testing positive for specific IgM in filter paper
Memórias do Instituto Oswaldo Cruz. Publicado em: 2012-05
-
11. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE
A doença de Gaucher (DG) é uma patologia de depósito de gordura nos lisossomos, de herança autossômica recessiva, caracterizada pelo acúmulo do substrato glicosilceramida, principalmente nas células do sistema reticuloendotelial, em razão da deficiência da enzima β-glicosidase ácida (GBA). O diagnóstico, comumente, é feito pela dosagem da at
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/05/2011
-
12. Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only
In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-08