33 documents found, page 1 of 4
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...
Sickle cell disease and gut health: the influence of intestinal parasites and t...
Delgadinho, Mariana; Ginete, Catarina; Santos, Brígida; Vasconcelos, Jocelyne Neto; Arez, Ana Paula; Brito, MiguelParasitic infections are a common problem in developing countries and can intensify morbidity in patients with sickle cell disease (SCD), increasing the severity of anemia and the need for transfusions. It has been demonstrated that both helminths and protozoa can affect gut microbiome composition. On the other hand, the presence of specific bacterial communities can also influence parasite establishment. Consi...
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...
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...
The gut microbiome and hydroxyurea effect on sickle cell disease children from ...
Brito, Miguel; Delgadinho, Mariana; Ginete, Catarina; Santos, Brígida; Vasconcelos, J.Background: Sickle cell disease (SCD) is an inherited hematological disorder and a serious global health problem, affecting between 20 and 25 million people worldwide. In Sub-Saharan Africa, where it is more prevalent, it contributes up to 90% of under-5 mortality. Although hydroxyurea (HU) is the leading treatment for these patients, its effects on the gut microbiome have not yet been explored. Some studies re...
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...
Efficacy and safety of pharmacological interventions for managing sickle cell d...
Tonin, Fernanda; Ginete, Catarina; Ferreira, Joana; Delgadinho, Mariana; Santos, Brígida; Fernandez‐Llimos, Fernando; Brito, MiguelThis study aimed to synthesize the evidence on the effects of disease-modifying agents for managing sickle cell disease (SCD) in children and adolescents by means of a systematic review with network meta-analyses, the surface under the cumulative ranking curve (SUCRA) and stochastic multicriteria acceptability analyses (SMAA) (CRD42022328471). Eighteen randomized controlled trials (hydroxyurea [n = 7], l-argini...
Modulação genética da gravidade da anemia hemolítica e de eventos clínicos adve...
Germano, Isabel; Santos, Brígida; Delgadinho, Mariana; Ginete, Catarina; Miranda, Armandina; Lopes, Pedro; Arez, Ana Paula; Brito, MiguelA anemia das células falciformes (SCA), ou drepanocitose, é uma doença genética recessiva causada pela mutação c.20A>T no gene da beta-globina (HBB), caracterizada pela presença de eritrócitos falciformes, anemia hemolítica crónica e eventos vaso-oclusivos, entre outros. As manifestações clínicas da doença são muito heterogéneas devido a agentes modificadores ambientais e genéticos. Neste estudo pretendeu-se in...