scholarly journals Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

2002 ◽  
Vol 4 (5) ◽  
pp. 328-335 ◽  
Author(s):  
Dana C Crawford ◽  
Michele Caggana ◽  
Katharine B Harris ◽  
Fred Lorey ◽  
Claudia Nash ◽  
...  
Keyword(s):  
Population Based ◽  
Blood Spots

scholarly journals Comparison between Enzyme Immunoassays Performed on Samples of Dried Blood and Serum for Toxoplasmosis Prenatal Screening: Population-based Study

2021 ◽  
Vol 43 (05) ◽  
pp. 351-356
Author(s):  
Bárbara Araújo Marques ◽  
Ericka Vianna Machado Carellos ◽  
Vânia Maria Novato Silva ◽  
Fernando Henrique Pereira ◽  
Maria Regina Lage Guerra ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Dried Blood Spots ◽  
Population Based ◽  
Minas Gerais ◽  
Immunoglobulin M ◽  
Screening Tests ◽  
Reference Test ◽  
Screening Programs ◽  
Blood Spots

Abstract Objective Most prenatal screening programs for toxoplasmosis use immunoassays in serum samples of pregnant women. Few studies assess the accuracy of screening tests in dried blood spots, which are of easy collection, storage, and transportation. The goals of the present study are to determine the performance and evaluate the agreement between an immunoassay of dried blood spots and a reference test in the serum of pregnant women from a population-based prenatal screening program for toxoplasmosis in Brazil. Methods A cross-sectional study was performed to compare the immunoassays Imunoscreen Toxoplasmose IgM and Imunoscreen Toxoplasmose IgG (Mbiolog Diagnósticos, Ltda., Contagem, Minas Gerais, Brazil)in dried blood spots with the enzyme-linked fluorescent assay (ELFA, BioMérieux S.A., Lyon, France) reference standard in the serum of pregnant women from Minas Gerais Congenital Toxoplasmosis Control Program. Results The dried blood spot test was able to discriminate positive and negative results of pregnant women when compared with the reference test, with an accuracy of 98.2% for immunoglobulin G (IgG), and of 95.8% for immunoglobulin M (IgM). Conclusion Dried blood samples are easy to collect, store, and transport, and they have a good performance, making this a promising method for prenatal toxoplasmosis screening programs in countries with continental dimensions, limited resources, and a high prevalence of toxoplasmosis, as is the case of Brazil.

scholarly journals A comprehensive population-based characterization of heart failure with mid-range ejection fraction

2017 ◽  
Vol 19 (12) ◽  
pp. 1624-1634 ◽  
Author(s):  
Angela S. Koh ◽  
Wan Ting Tay ◽  
Tiew Hwa Katherine Teng ◽  
Ola Vedin ◽  
Lina Benson ◽  
...  
Keyword(s):  
Heart Failure ◽  
Ejection Fraction ◽  
Population Based

scholarly journals Assessing Quality and Functionality of DNA from Fresh and Archival Dried Blood Spots and Recommendations for Quality Control Guidelines

2007 ◽  
Vol 53 (8) ◽  
pp. 1401-1407 ◽  
Author(s):  
Malin Ida Linnea Sjöholm ◽  
Joakim Dillner ◽  
Joyce Carlson
Keyword(s):  
Dna Extraction ◽  
Multiple Displacement Amplification ◽  
Dried Blood Spots ◽  
Extraction Methods ◽  
Population Based ◽  
Alkaline Lysis ◽  
Screening Programs ◽  
Blood Spots ◽  
Dna Yield ◽  
Chelex 100

Abstract Background: Dried blood spots (DBS) are a convenient and inexpensive method for biobanking. Although many countries have established population-based DBS biobanks from neonatal screening programs, the quality and usefulness of DNA from DBS have not been extensively assessed. Methods: We compared 4 common DNA extraction methods (Qiagen, EZNA, Chelex 100, and alkaline lysis) in a pilot study using fresh DBS with known lymphocyte count. We assessed suitability for multiple displacement amplification (MDA) and subsequent single-nucleotide polymorphism (SNP) analyses. We selected the EZNA method for DNA extraction from archival samples up to 27 years old, stored at room temperature or −20 °C, and SNP analyses were performed after MDA. Results: Extraction using alkaline lysis failed in most tests, and Chelex 100 was unsuccessful in real-time PCR, whereas the EZNA and Qiagen methods were successful by all evaluated quality indices. DNA extraction by EZNA, MDA, and SNP analyses were successful for the archival samples stored at −20 °C. Conclusion: Routine protocols for evaluation of the quality and functional integrity of DNA based on DNA yield, DNA size, and quantification of amplifiable DNA allow use of sufficient template for MDA and successful SNP analyses from both primary DBS extract and MDA product. A single 3-mm disc can yield sufficient DNA for several thousand SNP analyses. DNA from DBS is thus suitable for genetic epidemiology studies.

scholarly journals Epidemiological, clinical and molecular characterization of Lynch‐like syndrome: A population‐based study

2019 ◽  
Vol 145 (1) ◽  
pp. 87-98 ◽  
Author(s):  
Noora Porkka ◽  
Laura Lahtinen ◽  
Maarit Ahtiainen ◽  
Jan P. Böhm ◽  
Teijo Kuopio ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Population Based ◽  
Population Based Study
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