Browsing by Author "Morais, A"
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- An adolescent with sickle cell anaemia experiencing disease-related complications: priapism and leg ulcer--a management challenge.Publication . Vasconcelos, A; Prior, AR; Ferrão, A; Morais, ASickle-cell anaemia (SCA) is a multi-system disease, associated with episodes of acute illness and progressive organ damage. Disease severity shows substantial variation and it is often a burden for adolescents. Complications such as leg ulcer and priapism have a significant impact on quality of life. There are still no definitive treatment guidelines available. Considering the embarrassing nature of priapism and the dire consequences for erectile dysfunction, it is important to inform patients, parents and providers about the relationship of SCA to prolonged painful erections. This article will review the pathophysiology and treatment options of SCA focusing the complications of leg ulcers, priapism, cholelithiasis and retinopathy. The case study of a 14-year-old boy is used to present a management challenge of multiple SCA-related complications.
- Breathe, breathe in the air, don't be afraid to carePublication . Pamplona, P; Ravara, S; Boléo-Tomé, JP; Rosa, P; Morais, A
- Carcinoma de células renais com trombo gigante na veia cava inferior: abordagem cirúrgica multidisciplinarPublication . Furtado, A; Graça, B; Gonçalves, F; Ferrito, F; Morais, A; Santos, AA nefrectomia radical associada a trombectomia da veia cava inferior constitui a única opção terapêutica passível de melhoria prognóstica dos carcinomas de células renais com trombos venosos major. Descrevemos o caso de um homem, 55 anos, com o diagnóstico de tumor renal com trombo intra-cávico de grandes dimensões. O doente foi alvo de uma abordagem multidisciplinar, tendo sido submetido a nefrectomia radical à direita, trombectomia e cavoplastia, com recurso ainda a bypass cardiopulmonar e circulação extra-corpórea. O pós-operatório não registou intercorrências. A análise histológica concluiu tratar-se de um carcinoma de células renais, variante células claras e trombo excisado na totalidade, sem invasão da parede venosa. Aos dois anos de pós-operatório o doente encontra-se sem evidência de recidiva tumoral nem foram descritos eventos de embolização pulmonar.
- Consensus Document on Medical Faculty Education on the Treatment of Smoking.Publication . Jiménez-Ruiz, CA; Chatkin, JM; Morais, A; Zabert, G; Rosa, P; Gea, Q; Cavalcanti Lundgren, FL; Boléo-Tomé, JP, et al.We report the results of a consensus reached by an expert group of representatives from different medical societies in Latin America on the objectives, competencies (knowledge, and skills), content, and duration of smoking cessation education in Latin American medical schools. The document discusses the following aspects: epidemiology, nicotine dependence, factors for initiation and maintenance of tobacco use, smoking-related disorders, diagnosis, minimal intervention, non-pharmacological and pharmacological interventions for smoking cessation, and prevention of smoking.
- Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphismPublication . Martins, R; Morais, A; Dias, A; Soares, I; Rolão, C; Ducla-Soares, J; Braga, L; Seixas, T; Nunes, B; Olim, G; Romão, L; Lavinha, J; Faustino, PElevated erythrocyte destruction in sickle cell disease (SCD) results in chronic hyperbilirubinaemia and, in a subset of patients, cholelithiasis occurs. We investigated whether the (TA)n promoter polymorphism in the UDP-glucuronosyltransferase 1A1 gene (UGT1A1) may modify bilirubin metabolism, influencing bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in a group of 153 young SCD patients (mean age 12.0 +/- 9.0 years) predominantly of Bantu beta S haplotype. The concomitant effect of alpha thalassaemia was also analysed. Among the several UGT1A1 genotypes found, the most frequent were the (TA)6/(TA)6 (n = 37), (TA)6/(TA)7 (n = 60) and (TA)7/(TA)7 (n = 29). These groups of patients did not significantly differ in age, gender ratio and haemoglobin, foetal haemoglobin and reticulocyte levels. On the other hand, total bilirubin levels were significantly different between groups, with an increased (TA) repeat number being associated with higher bilirubinaemia. Furthermore, both cholelithiasis and cholecystectomy were more frequent in groups with higher (TA) repeat number, although the former association was not statistically significant. None of the mentioned parameters is statistically different within UGT1A1 groups with the presence of alpha thalassaemia. Thus, the UGT1A1 promoter polymorphism may represent an important nonglobin genetic modifier of Bantu SCD patients' clinical manifestations, even at a young age.
- Era uma vez uma cidade chamada Amadora...Publication . Morais, AO presente artigo vai debruçar‑se sobre a História da Amadora enquanto localidade e a sua evolução sócio demográfica até se tornar cidade, bem como acerca do tipo de população que aí se instalou, principalmente a partir dos anos 50. Apresenta‑se uma história de vida de uma família de um bairro degradado. Caracteriza‑se através de dois testemunhos de Assistentes Sociais da vivência dos cabo‑verdianos noutro bairro degradado. Por último descreve‑se o que deu origem à exclusão social de uma franja da população e uma conclusão sobre o Concelho.
- Evaluation of liquid biphasic Granada medium and instant liquid biphasic Granada medium for group B streptococcus detection.Publication . Martinho, F; Prieto, E; Pinto, C; Castro, R; Morais, A; Salgado, L; Exposto, FINTRODUCTION: Group B streptococci (GBS) are transmitted from the mother to the newborn. Prevention of neonatal infection is achieved by intrapartum prophylaxis given to mothers colonized with GBS at 35 to 37 weeks of pregnancy. MATERIALS AND METHODS: Liquid biphasic Granada medium (LB) and instant liquid biphasic Granada medium (ILB) were evaluated for GBS detection. Vaginal swabs obtained from 300 women were inoculated onto LB or ILB, or onto Todd-Hewitt broth and analyzed with the ATB system (comparison method). RESULTS: Prevalence of GBS was 20% (61/300). LB and Todd-Hewitt with ATB detected GBS in 20% of women, and ILB in 19% of women. No growth was observed at four hours in any of the media studied. At 10 h and 14 h, identification of GBS was possible in 43/300 (14%) and 53/300 (18%) of ILB cultures, respectively, and in 32/300 (11%) and 46/300 (15%) of LB cultures. CONCLUSION: All the media used are suitable for GBS detection. The majority of GBS were identified in ILB and LB cultures at 10 h and 14 h.
- Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study.Publication . Coelho, A; Dias, A; Morais, A; Nunes, B; Ferreira, E; Picanço, I; Faustino, P; Lavinha, JChronic haemolysis stands out as one of the hallmarks of sickle cell anaemia, a clinically heterogeneous autosomal recessive monogenic anaemia. However, the genetic architecture of this sub-phenotype is still poorly understood. Here, we report the results of an association study between haemolysis biomarkers (serum LDH, total bilirubin and reticulocyte count) and the inheritance of 41 genetic variants of ten candidate genes in a series of 99 paediatric SS patients (median current age of 9.9 yr) followed up in two general hospitals in Greater Lisboa area (median follow-up per patient of 5.0 yr). Although in a large number of tests a seemingly significant (i.e. P < 0.05) association was observed, the following ones were confirmed upon correction for multiple comparisons: (i) an increased serum LDH level was associated with haplotype 7 within VCAM1 gene; (ii) a lower total bilirubin was associated with the 3.7-kb deletion at HBA gene, rs2070744_T allele at NOS3 gene, and haplotype 9 within VCAM1 promoter; and (iii) a diminished reticulocyte count was associated with the 3.7-kb deletion at HBA, whereas an increased count was associated with rs1984112_G allele at CD36 gene. On the whole, our findings suggest a complex genetic architecture for the sickle cell anaemia haemolysis process involving multiple pathways, namely control of vascular cell adhesion, NO synthesis and erythrocyte volume and haemoglobinisation.
- Hemorheological alterations in sickle cell anemia and their clinical consequences: the role of genetic modulators.Publication . Silva, M; Vargas, S; Coelho, A; Dias, A; Ferreira, T; Morais, A; Maia, R; Kjöllerström, P; Lavinha, J; Faustino, PSickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. The disease presents with high clinical heterogeneity characterized by chronic hemolysis, recurrent episodes of vaso-oclusion and infection. This work aimed to characterize by in silico studies some genetic modulators of severe hemolysis and stroke risk in children with SCA, and understand their consequences at the hemorheological level.Association studies were performed between hemolysis biomarkers as well as the degree of cerebral vasculopathy and the inheritance of several polymorphic regions in genes related with vascular cell adhesion and vascular tonus in pediatric SCA patients. In silico tools (e.g. MatInspector) were applied to investigate the main variant consequences.Variants in vascular adhesion molecule-1 (VCAM1) gene promoter and endothelial nitric oxide synthase (NOS3) gene were significantly associated with higher degree of hemolysis and stroke events. They potentially modify transcription factor binding sites (e.g. VCAM1 rs1409419_T allele may lead to an EVI1 gain) or disturb the corresponding protein structure/function. Our findings emphasize the relevance of genetic variation in modulating the disease severity due to their effect on gene expression or modification of protein biological activities related with sickled erythrocyte/endothelial interactions and consequent hemorheological abnormalities.
- Impacto da terapêutica conservadora de orgão do carcinoma do pénis na funcão sexual e erétil.Publication . Santos-Lopes, S; Ferreira, C; Morais, A; Oliveira, JINTRODUCTION: Penile carcinoma is one of the less frequent tumors of the genitourinary system, however its effect on the patients' sex life and quality of life is of great impact. Studies about the influence on patients' sex life are scarce. OBJECTIVES: To characterize sexual activity with penetration of patients with penile carcinoma who underwent different conservative therapeutic approaches and to evaluate pre and post treatment erectile function. Secondarily, to compare the results between the patients who underwent partial penectomy to those subjected to other conservative therapies. MATERIAL AND METHODS: Review of patients' records diagnosed with penile carcinoma and observed at the Portuguese Institute of Oncology of Oporto between 2005 and 2015, to obtain demographic, clinical and histopathological data. Telephone interviews for the completion of the International Index of Erectile Function-5 (IIEF-5) questionnaire to patients undergoing treatment in that period. RESULTS: 16 out of the 107 patients met the inclusion criteria (n=16), with an average IIEF-5 score of 23.44 (10-25), lowering this value to 16.56 (5-25) after therapy, p<0,05. Fifteen out of the 16 patients kept sexual activity (93.8%) and one (6.25%) suspended due to erectile dysfunction. IIEF-5 score after treatment in the subgroup that underwent partial penectomy was lower when compared to the other subgroup of patients subjected to others conservative therapies, without statistical significance. CONCLUSION: Although penile carcinoma treatment has an impact in erectile function with statistical significance, the majority of patients keeps an active sexual life with penetration after treatment. It's not possible to conclude that less invasive therapies are associated with better erectile function.