Browsing by Author "Dias, A"
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- Biomarkers and Genetic Modulators of Cerebral Vasculopathy in Sub-Saharan Ancestry Children With Sickle Cell AnemiaPublication . Silva, M; Vargas, S; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Maia, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Silva, R; Kjöllerström, P; Faustino, PWe investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery, and with high serum levels of the hemolysis biomarker lactate dehydrogenase. Furthermore, VCAM-1 ligand coding gene ITGA4 variants rs113276800_A and rs3770138_T showed a positive association with stroke events. An additional positive relationship between a genetic variant and stroke risk was observed for ENPP1 rs1044498_A. Conversely, NOS3 variants were negatively associated with silent cerebral infarct events (VNTR 4b_allele and haplotype V) and CV globally (haplotype VII). The -alpha3.7kb-thal deletion did not show association with CV. However, it was associated with higher red blood cell and neutrophil counts, and lower mean corpuscular volume, mean corpuscular hemoglobin and red cell distribution width. Our results underline the importance of genetic modulators of the CV sub-phenotype and their potential as SCA therapeutic targets. We also propose that a biomarker panel comprising biochemical, hematological, imaging and genetic data would be instrumental for CV prediction, and prevention.
- A Case of Central Nervous System Infection by Candida Famata in an Immunosuppressed Patient with HIV-1 InfectionPublication . Caria, J; Leal, E; Dias, A; Pinheiro, H; Póvoas, D; Maltez, FInvasive fungal infections caused by Candida species are increasingly observed in immunosuppressed patients. Candida albicans is the more often identified species and neurocandidiasis is associated with high mortality rates. Diagnosis and treatment of these infections are frequently challenging. We report a case of central nervous system infection caused by Candida famata in an HIV-1 infected patient. To our best knowledge this is just the second published case of neural infection by this agent.
- Cytotoxic and Genotoxic Effects of Environmental Relevant Concentrations of Bisphenol A and Interactions with DoxorubicinPublication . Ramos, C; Ladeira, C; Zeferino, S; Dias, A; Faria, I; Cristovam, E; Gomes, M; Ribeiro, EBisphenol A (BPA) is one of the most widely utilized endocrine disruptors to which humans are exposed, particularity through ingestion. BPA is an aneugenic compound with a putative association to tumorigenesis. Although extensively studied in estrogen responsive cells, information regarding its effects on cells from the upper gastrointestinal tract exposed to free/active forms of BPA is still scarce. Similarly, BPA interactions with other drugs have been neglected, although it has been suggested to have a potential role in doxorubicin (DOX) chemoresistance. This study is intended to assess potential cytotoxic and genotoxic effects of BPA, as well as its interactions with DOX, in Human epithelial type 2 cells (Hep-2) originated from a human laryngeal carcinoma and in a DNA damage responsive cell line, the human lung fibroblasts (MRC-5). Cell viability was analyzed through the resazurin assay. The G protein-coupled estrogen receptor 1 (GPER) expression was visualized by immunodetection. Genotoxicity, namely DNA damage and oxidative DNA damage, were assessed by comet assay and micronuclei induction, and mitotic disruption was evaluated cytologically by fluorescent microscopy with DAPI staining. Cytotoxicity analysis showed that exposure to BPA per se does not affect cellular viability. Nevertheless, the genotoxic analysis showed that BPA induced an increase of DNA damage in the Hep-2 cell line and in oxidative damage in the MRC-5 cell line. An increase of micronuclei was also observed in both cell lines following BPA exposure. BPA and DOX co-exposures suggested that BPA acts as an antagonist of DOX effects in both cell lines. The interaction with DOX appears to be cell type dependent, exhibiting a non-monotonic response curve in MRC-5 cells, a GPER expressing cell line. Our study emphasizes the need for a deeper knowledge of BPA interactions, particularly with chemotherapeutic agents, in the context of risk assessment and public health.
- Diffuse Large B-Cell Lymphoma with Axillary Cutaneous Invasion in a HIV Positive PatientPublication . Dias, A; Saraiva, F; Maltez, F
- Genetic Modulators of Fetal Hemoglobin Expression and Ischemic Stroke Occurrence in African Descendant Children With Sickle Cell AnemiaPublication . Nicolau, M; Vargas, S; Silva, M; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Kjöllerström, P; Maia, R; Silva, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Faustino, PSickle cell anemia (SCA) is an autosomal recessive monogenic disease with significant clinical variability. Cerebrovascular disease, particularly ischemic stroke, is one of the most severe complications of SCA in children. This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic stroke risk, in ninety-one unrelated SCA patients, children of sub-Saharan progenitors. Our results show that a higher Hb F level has an inverse relationship with the occurrence of stroke, since the group of patients who suffered stroke presents a significantly lower mean Hb F level (5.34 ± 4.57% versus 9.36 ± 6.48%; p = 0.024). Furthermore, the co-inheritance of alpha-thalassemia improves the chronic hemolytic pattern, evidenced by a decreased reticulocyte count (8.61 ± 3.58% versus 12.85 ± 4.71%; p < 0.001). In addition, our findings have confirmed the importance of HBG2 and BCL11A loci in the regulation of Hb F expression in sub-Saharan African SCA patients, as rs7482144_A, rs11886868_C, and rs4671393_A alleles are significantly associated with a considerable increase in Hb F levels (p = 0.019, p = 0.026, and p = 0.028, respectively). Concerning KLF1, twelve different variants were identified, two of them novel. Seventy-three patients (80.2%) presented at least one variant in this gene. However, no correlation was observed between the presence of these variants and Hb F level, severity of hemolysis, or stroke occurrence, which is consistent with their in silico-predicted minor functional consequences. Thus, we conclude that the prevalence of functional KLF1 variants in a sub-Saharan African background does not seem to be relevant to SCA clinical modulation.
- O Hospital e o Adolescente Uma Visão Num Hospital PediátricoPublication . Torre, ML; Neves, MC; Dias, A; Cepêda, T; Estrada, ACom o objectivo de conhecer as opiniões e expectativas dos adolescentes acerca das condições de atendimento hospitalar, os autores aplicaram um auto-questionário, de resposta facultativa e anónima, aos utentes desse grupo etário em Março de 1995. Obtiveram-se 207 respostas no ambulatório e 33 no internamento; apenas 17% frequentavam a consulta pela primeira vez e, 26% utilizavam-na há mais de 5 anos; 64% dos inquiridos já tinham internamentos anteriores dos quais 78% neste hospital. Em caso de necessidade de internamento 59% preferia o hospital pediátrico e, 56,5% gostaria de uma consulta específica para o seu grupo etário. Quanto às condições de internamento 88,8% desejava ter apenas jovens da sua idade na enfermaria e, sublinham a importância da sua privacidade. Concluem pela necessidade de melhorar as condições de atendimento e internamento e promover a discussão sobre o funcionamento de unidades hospitalares para adolescentes.
- Non-Vitamin K Oral Anticoagulants Assessment in High Risk of Bleeding Patients with Non-Valvular Atrial FibrillationPublication . Silva Cunha, P; Viveiros Monteiro, A; Coutinho Cruz, M; Malveiro, P; Reis, JP; Portugal, G; Dias, A; Cruz Ferreira, R; Oliveira, MMAtrial fibrillation (AF) is commonly associated with advanced age and the presence of multiple, concomitant acute and chronic health conditions, placing this population at high risk for serious therapeutic side effects. Nonvitamin K antagonist oral anticoagulants (NOACs) are increasingly used for stroke prevention in patients with atrial fibrillation. The purpose of this study was to investigate the effectiveness and safety of NOAC in a group at high risk of bleeding complications, in a real-world setting. We conducted a retrospective analysis of a high-risk cohort of 418 patients (pts) followed-up in our anticoagulation unit; data on patient characteristics, anticoagulation treatment, and bleeding and thrombotic complications were evaluated. The population had a median age of 77.8 ± 10.3 years and the mean CHA2DS2-VASc score was 3.85 (SD ± 1.4). Overall, 289 (69.1%) were ≥75 years old. During a mean follow-up time of 51.2 ± 35.7 months, we observed a rate of any bleeding of 7, a clinically relevant non-major bleeding rate of 4.8, a major bleeding rate of 2.2, a stroke rate of 1.6, and a rate of thrombotic events of 0.28 per 100 patient-years. There were 59 hospitalizations due to any cause (14.1%) and 36 (8.6%) deaths (one due to ischemic stroke). A structured follow-up, with judicious prescribing and drug compliance, may contribute to preventing potential complications
- Seroprevalence of SARS-CoV-2 Infection in Portugal in May-July 2020: Results of the First National Serological Survey (ISNCOVID-19)Publication . Kislaya, I; Gonçalves, P; Barreto, M; Sousa, R; Garcia, AC; Matos, R; Guiomar, R; Rodrigues, AP; Dias, AIntroduction: The aim of this study was to estimate and describe the prevalence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) specific antibodies (immunoglobulin M and/or immunoglobulin G) in Portugal in May-July 2020. Material and methods: A cross-sectional seroepidemiological survey was developed after the peak of the first epidemic wave on a sample of 2301 Portuguese residents, aged 1 year or older. Survey sample was selected using a two-stage stratified non-probability sampling design (quota sampling). SARS-CoV-2 immunoglobulin M and immunoglobulin G antibodies were measured in serum samples by enzyme-linked immunosorbent assay. Seroprevalence estimates of immunoglobulin M and/or immunoglobulin G and 95% confidence intervals were stratified by sex, age group, health region and education. Results: Overall, seroprevalence was 2.9% (95% confidence interval: 2.0% - 4.2%). Higher prevalence rates were observed in male (4.1%, 95% confidence interval: 2.6% - 6.6%) and those with secondary education (6.4%, 95% confidence interval: 3.2% - 12.5%). Differences in seroprevalence by age group and region were not statistically significant. Discussion: The estimated seroprevalence of SARS-CoV-2 was higher than the cumulative incidence reported by the National Surveillance System but far from necessary to reach herd immunity. Conclusion: Our results support limited extent of infection by SARS-CoV-2 in the study population possibly due to early lockdown measures implemented in Portugal and support the need to continue monitoring of SARS-CoV-2 seroprevalence in order to increase our knowledge about the evolution of the epidemic and to estimate the proportion of the susceptible population over time.
- Severe Megaloblastic Anaemia in an InfantPublication . Rodrigues, V; Dias, A; Brito, MJ; Galvão, I; Cordeiro Ferreira, GVitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia. In this article, the authors describe a 10-month-old infant admitted for vomiting, refusal to eat and prostration. The infant was exclusively breastfed and diffi culties in introduction of new foods were reported. Failure to thrive since 5 months of age was also noticed. Laboratory evaluation revealed severe normocytic normochromic anaemia and cobalamin defi cit. A diagnosis of α-thalassemia trait was also made. Maternal investigation showed autoimmune pernicious anaemia. This case shows the severity of vitamin B 12 deficiency and the importance of adopting adequate and precocious measures in order to prevent potentially irreversible neurologic damage.
- Thromboembolic Risk in COVID-19 Patients: Is There a Hidden Link?Publication . Cidade, J; Pinheiro, H; Dias, A; Santos, M; Nascimento, B; Figueiredo, C; Pinto, R; Pereira, L; Rodrigues, C; Maltez, FBackground Although evidence has emerged indicating that patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia present a high risk of venous thromboembolism (VTE), its real incidence and best diagnosis course remain unclear. In this study, we aimed to determine the incidence of pulmonary embolism in these patients and the role of D-dimer serum level as a predictive factor of a new VTE event. Methodology This was a single-center retrospective observational cohort study conducted in a tertiary hospital. All patients admitted to the infectious diseases ward with SARS-CoV-2 pneumonia with clinical or laboratory criteria for suspected VTE events were eligible for inclusion in the study. The t-test or Mann-Whitney U test was used to analyze the differences between the with-VTE group and the without-VTE group. Results Overall, VTE incidence was registered to be 30%. Chest computed tomography angiography data revealed thrombus mainly in segmental (five patients, 71%) and subsegmental pulmonary artery branches (four patients, 57%). No thrombus on major branches was documented. D-dimer serum levels (collected at hospital admission, 48 hours before the suspected VTE event date and at suspected VTE event date) were analyzed, and, despite a consistent tendency of higher values in the with-VTE group, no statistical difference was observed. Moreover, no statistical difference was observed between the two groups in mortality rates. Conclusions A clear higher risk of VTE events in SARS-CoV-2 pneumonia patients was not documented, and a link between the impact of VTE occurrence and a worse prognosis was not demonstrated. Therefore, we suggest that the use of D-dimer serum level should not be used as a predictor of VTE in SARS-CoV-2 pneumonia patients.