99 documents found, page 1 of 10
Characterization of a cohort of Angolan children with sickle cell anemia treate...
Santos, Brígida; Ginete, Catarina; Gonçalves, Elisângela; Delgadinho, Mariana; Miranda, Armandina; Faustino, Paula; Arez, Ana Paula; Brito, MiguelBackground: Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous. Objectives: This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity. Methods: The study enrolled 215 patients between 3 and 12 years old before and after the adminis...
Differential expression of adhesion molecules in sickle cell anemia and gut mic...
Delgadinho, Mariana; Veiga, Luisa; Ginete, Catarina; Santos, Brígida; Miranda, Armandina; Vasconcelos, Jocelyne Neto de; Brito, MiguelSickle cell anemia (SCA) causes a long-standing vascular inflammation state, leading to endothelial dysfunction and chronic overexpression of several adhesion molecules, which contributes to acute and constant vaso-occlusive (VOC) episodes. It has been demonstrated that hydroxyurea (HU) can reduce VOC events, organ damage, blood transfusions, and even the adhesion properties to endothelial cells of SCA subjects...
Characterization of a cohort of Angolan children with sickle cell anemia treate...
Santos, Brígida; Ginete, Catarina; Gonçalves, Elisângela; Delgadinho, Mariana; Miranda, Armandina; Faustino, Paula; Arez, Ana Paula; Brito, MiguelBackground: Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous. Objectives: This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity. Methods: The study enrolled 215 patients between 3 and 12 years old before and after the adminis...
Genetic modifiers of sickle cell anemia phenotype in a cohort of Angolan children
Ginete, Catarina; Delgadinho, Mariana; Santos, Brígida; Miranda, Armandina; Silva, Carina; Guerreiro, Paulo; Chimusa, Emile R.; Brito, MiguelThis study aimed to identify genetic markers in the HBB Cluster; HBS1L-MYB intergenic region; and BCL11A, KLF1, FOX3, and ZBTB7A genes associated with the heterogeneous phenotypes of Sickle Cell Anemia (SCA) using the next-generation sequencing, as well as to assess their influence and prevalence in an Angolan population. Hematological, biochemical, and clinical data were considered to determine patients’ sever...
Ancestry of the major long-range regulatory site of the α-globin genes in the P...
Pena, Rita; Lopes, Pedro; Gaspar, Gisela; Miranda, Armandina; Faustino, PaulaBackground: The α-Major Regulatory Element (α-MRE), also known as HS-40, is located upstream of the α-globin gene cluster and has a crucial role in the long-range regulation of the α-globin gene expression. This enhancer is polymorphic and several haplotypes were identified in different populations, with haplotype D almost exclusively found in African populations. The purpose of this research was to identify th...
Characterization of a cohort of Angolan children with sickle cell anemia treate...
Santos, Brígida; Ginete, Catarina; Gonçalves, Elisângela; Delgadinho, Mariana; Miranda, Armandina; Faustino, Paula; Arez, Ana Paula; Brito, MiguelBackground: Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous. Objectives: This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity. Methods: The study enrolled 215 patients between 3 and 12 years old before and after the adminis...
Implementation of Internal Quality Control in Clinical Laboratories of Portugue...
Pinto, Mariana; Viegas, Silvia; Miranda, Armandina; Vieira, Cristina; Fernandes, Lília; Constantino, José; Alvim, Marta; Leal, SilvâniaProMeQuaLab (Laboratory Quality Improvement Project for Portuguese Speaking Countries) is an ongoing project started in 2015 aiming to improve the quality of laboratory results in Portuguese Speaking countries ( It focuses on training in laboratory quality control, implementation and monitoring of quality indicators, and the organisation of a biennial congress. In 2023 within the scope of ProMeQuaLab and in col...
Are genetic modifiers the answer to different responses to hydroxyurea treatmen...
Ginete, Catarina; Delgadinho, Mariana; Santos, Brígida; Pinto, Vera; Silva, Carina; Miranda, Armandina; Brito, MiguelSickle cell anemia (SCA) is an inherited disease affecting the hemoglobin that is particularly common in sub-Saharan Africa. Although monogenic, phenotypes are markedly heterogeneous in terms of severity and life span. Hydroxyurea is still the most common treatment for these patients, and the response to treatment is highly variable and seems to be an inherited trait. Therefore, identifying the variants that mi...
Hemoglobinopatias - Abordagem Laboratorial
Miranda, Armandina; Gaspar, GiselaFolheto técnico sobre a abordagem laboratorial das hemoglobinopatias.
Diabetes Tipo MODY – Caracterização Molecular
Gaspar, Gisela; Miranda, ArmandinaFolheto técnico sobre caracterização molecular da Diabetes Tipo MODY.