Percorrer por autor "Vasconcelos, Jocelyne"
A mostrar 1 - 7 de 7
Resultados por página
Opções de ordenação
- Capacity building in obstetric and abdominal ultrasound for sickle cell disease pregnancies in Angola: a pre- and post-training evaluationPublication . Ribeiro, Ricardo Teresa; Hcini, Najeh; Vasconcelos, Jocelyne; Alves, Ligia; Mendes, Manuela; Gomes, Tatiana M.; Brito, Miguel; Pomar, LéoObjectives: Sickle cell disease (SCD) increases risks in pregnancy, affecting both maternal and fetal outcomes. Ultrasound (US) is essential for monitoring these high-risk pregnancies. However, in countries like Angola, where SCD affects nearly 3% of pregnancies, access to skilled professionals is limited. This study evaluated the impact of an intensive US training program in Luanda, focusing on obstetric and abdominal US for SCD pregnancies. Methods: A prospective pre-post intervention study was conducted with 24 healthcare professionals working in 2 maternity units. Participants completed a survey to assess confidence in performing US procedures before and after a 1-week intensive training program. The training consisted of didactic lectures, supervised hands-on practice with real patients, and case discussions. Statistical analysis included distribution analysis and frequency, Mann-Whitney U tests, and effect sizes. Results: Pre-training, participants demonstrated limited experience with both abdominal and obstetric US in SCD pregnancies. Post-training, improvements were observed in assessments of abdominal organs and obstetric evaluations, with significance in Doppler assessments. Conclusion: The program effectively improved US proficiency and confidence in assessing SCD pregnancies. Incorporating continuous mentorship and locally adapted protocols could sustain these gains, with potential long-term benefits in maternal and fetal outcomes. Future initiatives should incorporate digital mentorship and refresher training.
- 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 and SCD: addressing the gaps in medical surveillance in low-and middle-income countriesPublication . Ginete, Catarina; Brito, Miguel; Mendes, Manuela; Simão, Fernanda; Vasconcelos, JocelyneIntroduction: Sickle Cell Disease (SCD) is a severe hereditary genetic condition, and pregnancy in these patients may lead to the exacerbation of symptoms and severe complications, such as eclampsia, pre-eclampsia, stroke, perinatal and maternal death. This study aimed to identify pregnancy complications and their association with genetic variability in women with SCD at Maternidade Lucrecia Paim, Luanda, Angola. Methods: Pregnant SCD women followed at Maternidade Lucrecia Paim, Luanda, Angola, between June 2021 and March 2024, were invited to participate in the study. Sociodemographic data, information about previous manifestations of the disease, and pregnancies were collected. Pregnancy monitoring included hematological, biochemical, and genetic analysis (SCD genotype, HBB haplotype, and 3.7 kb deletion of the α-globin gene). Results: A total of 162 SCD patients were enrolled in this study, with ages ranging from 16 to 46. SS genotype was confirmed in 161 patients, and one patient presented with sickle beta-thalassemia. Moderate jaundice was identified in 15% and light jaundice in 59% of patients. Clinical history analysis shows that 91% of these patients have been hospitalized at least once, 81% of the time resulting from painful crisis episodes, and 79% received at least one transfusion. Overall, 18% of pregnancies resulted in stillbirth and 16% in spontaneous abortions. Regarding HBB haplotypes, 87% of women had the CAR/CAR haplotype, which is considered the most severe. These CAR/CAR patients presented lower RBC (p = 0.05), hemoglobin (p = 0.008), and HCT (p = 0.041), and higher LDH (p = 0.010). The perinatal survival rate was also inferior in these patients (64% vs. 82%). Also, the presence of the T allele in the polymorphism rs968857, in the region of the δ-globin gene (HBD), seems to be associated with a lower rate of miscarriages (p = 0.044) and the number of livebirths (p = 0.045). The presence of 3.7 alpha thalassemia deletion has been associated with better prognosis in SCD patients. In this cohort, 12% of women were homozygous for the deletion, and 36% were heterozygous. Homozygous patients presented lower WBC (p = 0.004), MCV (p = 0.013), MCH (p < 0.001), MCHC (p = 0.003), total and direct bilirubin (p < 0.001 and p = 0.012), and higher RBC (p < 0.001) and HCT (p = 0.004). Although not statistically significant (p = 0.072), homozygous individuals presented a higher rate of livebirths (85% vs. 63%) than other genotypes. Conclusion: The high rates of miscarriages and fetal death associated with SCD demonstrate the urgent need to invest in medical surveillance for these women, especially in countries where the prevalence of the disease is high and the resources are limited. The early identification of the most severe phenotypes will allow the implementation of preventive strategies to help reduce the risk of severe outcomes.
- 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).
- Sickle cell disease: can genetic variability influence pregnancy outcomes?Publication . Ginete, Catarina; Cruz, Carolina; Delgadinho, Mariana; Mendes, Manuela; Simão, Fernanda; Alves, Ligia; Vasconcelos, Jocelyne; Borralho, Paula; Brito, MiguelPregnancy in Sickle Cell Disease (SCD), a severe hereditary genetic condition, highly prevalent in Sub-Saharan African countries, is associated with increased risk of complications and severe outcomes in pregnancy, like intrauterine growth restriction, low birth weight, premature birth, miscarriage, stillbirth, pre-eclampsia, and maternal mortality. Several factors have been identified as associated with the heterogeneity of SCD phenotypes, namely the hemoglobin subunit beta (HBB) haplotype and −3.7 kb α-thalassemia deletion. Objective: This study aimed to identify pregnancy complications and severe outcomes, and their association with genetic variability in women with SCD. Methods: In a cohort of 162 pregnant women followed at Maternidade Lucrécia Paim, Luanda, Angola, we collected clinical, hematological, biochemical, and genetic data (Sickle Cell Disease genotype, HBB haplotype, and −3.7 kb α-thalassemia). Findings: The Central African Republic (CAR) haplotype was the most prevalent, being 87% of women homozygous. For the −3.7 kb α-gene deletion, 11.7% of women were homozygous, and 36.4% were heterozygous. In this cohort, CAR/CAR women had over 9 times higher odds of having a premature birth, and homozygous women for the −3.7 kb α-thalassemia had over four times higher odds of having a livebirth than the other genotypes. Over 50% of babies were born with low birth weight, and 52,7% were considered premature. Severe maternal complications were registered in 68% of current pregnancies. Conclusion: These findings highlight the high burden of adverse outcomes in SCD pregnancy and the need for individualized and closer healthcare, especially in low and middle-income countries.