Percorrer por autor "Vasconcelos, Jocelyne"
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- Exploring the link between gut microbiome and asthma risk in Angolan adultsPublication . Brito, Miguel; Arrais, Margarida; Delgadinho, Mariana; Ginete, Catarina; Dias, Welwitschia; Vasconcelos, JocelyneBackground: Asthma is one of the most prevalent chronic respiratory diseases worldwide, and although its prevalence is higher in high-income countries, most asthma-related deaths are in low- and middle-income countries. The lung and intestine are connected through intricate communication pathways that influence each other’s equilibrium. Metabolites generated by the gut microbiome, along with intestinal immune cells and immune factors, travel through the bloodstream to the lungs, where they contribute to immune function. The main aim of this study was to perform a case-control study to investigate the association between asthma and gut microbiome in an adult Angolan population from Luanda.
- Microbial gut evaluation in an angolan paediatric population with sickle cell diseasePublication . Delgadinho, Mariana; Ginete, Catarina; Santos, Brígida; Mendes, Joana; Miranda, Armandina; Vasconcelos, Jocelyne; Brito, MiguelSickle cell disease (SCD) is one of the most common genetic conditions worldwide. It can contribute to up to 90% of under-5 mortality in sub-Saharan Africa. Clinical manifestations are very heterogeneous, and the intestinal microbiome appears to be crucial in the modulation of inflammation, cell adhesion, and induction of aged neutrophils, the main interveners of recurrent vaso-occlusive crisis. Enterocyte injury, increased permeability, altered microbial composition, and bacterial overgrowth have all been documented as microbial and pathophysiologic changes in the gut microbiome of SCD patients in recent studies. Our aim was to sequence the bacterial 16S rRNA gene in order to characterize the gut microbiome of Angolan children with SCA and healthy siblings as a control. A total of 72 stool samples were obtained from children between 3 and 14 years old. Our data showed that the two groups exhibit some notable differences in microbiota relative abundance at different classification levels. Children with SCA have a higher number of the phylum Actinobacteria. As for the genus level, Clostridium cluster XI bacteria was more prevalent in the SCA children, whereas the siblings had a higher abundance of Blautia, Aestuariispira, Campylobacter, Helicobacter, Polaribacter, and Anaerorhabdus. In this study, we have presented the first microbiota analysis in an Angolan paediatric population with SCD and provided a detailed view of the microbial differences between patients and healthy controls. There is still much to learn before fully relying on the therapeutic approaches for gut modulation, which is why more research in this field is crucial to making this a reality.
- Newborn screening for sickle cell disease in Angola: implementation challenges and emerging data on hemoglobinopathy prevalencePublication . Brito, Miguel; Ginete, Catarina; Jacinto, Mariana; Mendes, Manuela; Soares, Hailton; Afonso, Roberto; Siatembo, Adriano; Vasconcelos, Jocelyne; Inusa, BabaSickle Cell Disease (SCD) is an autosomal recessive disorder with a substantial global burden. Despite its particularly high incidence in sub-Saharan Africa, early diagnosis remains limited in many countries. The objective of this study was to implement a newborn screening programme for SCD in one of the largest maternity hospitals in Angola and to support the subsequent pediatric follow-up of the affected children. Between June 2023 and December 2024, all children born in or attending the main hospital for vaccination were screened after parental or guardian consent. Blood was collected by heel-prick onto filter paper, and haemoglobin electrophoresis was performed by isoelectric focusing. Samples identified as HbSS were confirmed by PCR-RFLP, and atypical electrophoretic patterns were further analysed by DNA sequencing. In a total of 13,256 samples analysed, the prevalence of HbSS was 1.38% (n = 183), and 20.31% (n = 2692) were HbAS. Other variants identified (n = 44) included HbE, HbC, and α-globin gene alterations. Of the infants diagnosed with SCD, 106 (58%) families were successfully contacted, but only 76 (42%) children initiated regular medical follow-up and prophylactic treatment (penicillin, multivitamins, and vaccinations. 30 families (28%) declined treatment, and just one declined follow-up. These findings confirm the high prevalence of SCD in Angola and demonstrate the capacity of newborn screening programmes in reducing early morbidity and mortality. However, the substantial proportion of families refusing follow-up highlights the need for strengthened community health education to improve understanding of SCD.
- Pregnancy surveillance in sickle cell disease patients: a cohort study in an African country – AngolaPublication . Brito, Miguel; Ginete, Catarina; Ferreira, Joana; Mendes, Manuela; Vasconcelos, Jocelyne; Delgadinho, Mariana; Sebastião, Cruz; Quinto, Francisco; Simão, Fernanda; Mateus, Anabela; Fernandes, FilipeSickle Cell Disease (SCD) is a severe monogenic disease caused by the inherence of a recessive mutation in the β-globin gene, with an especially high prevalence in sub-Saharan Africa. In Angola, the prevalence of the disease is almost 2%, and the carriers reach 21% of the population. Although its presentation tends to be very heterogeneous, chronic hemolytic anemia, frequent painful crises, and extensive organ damage are common features of these patients. Pregnancy in SCD patients is associated with an increase in severe outcomes, namely, a high risk of eclampsia and pre-eclampsia, stroke, and even death. Therefore, it is crucial to maintain continuous medical surveillance during pregnancy, especially in women with previous strokes. Moreover, health services in low- and middle-income countries are generally not prepared to follow these patients. The present cohort study, conducted at the Lucrecia Paim Maternity Hospital (Luanda, Angola), aims to determine pregnancy complications in SCD women, especially those responsible for maternal death, and, by supporting the obstetric consultations in this hospital, contribute to the reduction of mortality and morbidity rates. Pregnancy monitoring includes analysis of clinical history and incidents (number of hospitalizations, blood transfusions, strokes, and other clinical complications), hematological and biochemical analysis, transcranial Doppler to assess cerebral hemodynamics, and genetic analysis (confirmation of the diagnosis, genotyping of four SNPs in the β-cluster to assess the haplotype, and evaluation of the presence of the 3.7kb deletion of the α-globin gene).