Publications by authors named "Mariana R B Mello"
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics
November 2023
Background: Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized variant interpretation. In this manuscript, we present the updated Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative.
View Article and Find Full Text PDFErythropoiesis-driven regulation of hepcidin in human red cell disorders is better reflected through concentrations of soluble transferrin receptor rather than growth differentiation factor 15.
Am J Hematol
April 2014
Growth differentiation factor 15 (GDF-15) is a bone marrow-derived cytokine whose ability to suppress iron regulator hepcidin in vitro and increased concentrations found in patients with ineffective erythropoiesis (IE)suggest that hepcidin deficiency mediated by GDF-15 may be the pathophysiological explanation for nontransfusional iron overload. We aimed to compare GDF-15 production in anemic states with different types of erythropoietic dysfunction. Complete blood counts, biochemical markers of iron status, plasma hepcidin, GDF-15, and known hepcidin regulators [interleukin-6 and erythropoietin (EPO)] were measured in 87 patients with red cell disorders comprising IE and hemolytic states: thalassemia, sickle cell anemia, and cobalamin deficiency.
View Article and Find Full Text PDFArticle Synopsis
- Chronic vascular inflammation and endothelial activation play a key role in vaso-occlusion in sickle cell disease (SCD), with TNFSF14 identified as a significant pro-inflammatory cytokine involved in this process.
- A study found that levels of TNFSF14 were significantly higher in patients with various forms of sickle cell anemia compared to healthy controls, suggesting a possible link to disease severity and inflammatory markers.
- Platelets were identified as a major source of circulating TNFSF14 in SCD, and high levels of this cytokine were associated with increased tricuspid regurgitant velocity, indicating potential implications for complications like pulmonary hypertension and the need for further research on therapeutic targets.
Background: Acute promyelocytic leukemia is a cytogenetically well defined entity. Nevertheless, some features observed at diagnosis are related to a worse outcome of the patients.
Methods: In a prospective study, we analyzed peripheral (PB) leukocyte count, immunophenotype, methylation status of CDKN2B, CDKN2A and TP73; FLT3 and NPM1 mutations besides nuclear chromatin texture characteristics of the leukemic cells.
Objective: To determine if phenotypic subtypes of acute lymphoblastic leukemia (ALL) are associated with different nuclear textures.
Study Design: In 49 newly diagnosed patients, diagnostic work-up was made by routinely Giemsa-stained smears and immunophenotyping. B-precursor ALL was further subdivided by European Group for the Immunological Classification of Leukemias criteria.