Publications by authors named "A B de Freitas Carneiro-Proietti"

Article Synopsis
  • Human genetic variation has helped identify key regulators of hemoglobin switching, notably BCL11A, leading to therapeutic advancements, but understanding of the broader regulatory mechanisms remains limited.
  • A large genome-wide association study involving 28,279 individuals from 5 continents identified 178 significant genetic variants affecting fetal hemoglobin regulation.
  • The research pinpointed BACH2 as a new regulator and clarified how certain genetic variations, including rare deletions, interact to influence fetal hemoglobin levels, paving the way for improved treatments for conditions like sickle cell disease and β-thalassemia.
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Chronic kidney disease (CKD) has a significant impact on sickle cell disease (SCD) morbidity and mortality. Early identification of individuals at highest risk of developing CKD may allow therapeutic intervention to prevent worse outcomes. This study aimed to evaluate the prevalence and risk factors for reduced estimated glomerular filtration rate (eGFR) among adults with SCD in Brazil.

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Manifestations of sickle cell disease (SCD) begin early in childhood and cause morbidity and decreased life expectancy. Hematopoietic stem cell transplantation (HSCT) is curative but associated with risk of mortality attributable to the transplant. This risk should be counterbalanced with SCD morbidity and mortality.

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Background: Except for public health case reports, the incidence of Zika virus (ZIKV), chikungunya virus (CHIKV), and dengue virus (DENV) infection are not available to assess the potential blood transfusion safety threat in Brazil.

Methods: Pools of 6 donation samples (MP6) left over from human immunodeficiency virus, hepatitis B virus, and hepatitis C virus nucleic acid testing were combined to create MP18 pools (3 MP6 pools). Samples were tested using the Grifols triplex ZIKV, CHIKV, and DENV real-time transcription mediated amplification assay to estimate prevalence of RNAemia and incidence, and to compare these results to case reports in São Paulo, Belo Horizonte, Recife, and Rio de Janeiro, from April 2016 through June 2019.

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Article Synopsis
  • A new flow cytometry-based platform called "FC-Duplex IgG1 (HTLV-1/2)" was developed for the universal and differential diagnosis of HTLV-1/2 infections using IgG1 antibodies.
  • The platform uses a fluorescently labeled cell line mix combined with a sensitive detection system to identify positive cases of the infection, showing strong stability over time and effective results in testing various serum samples.
  • The "FIX" protocol showcased high performance in diagnosing HTLV-1 and HTLV-2 infections, achieving perfect sensitivity and specificity, underlining its potential use in serological kits for laboratories and blood centers.
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