Browsing by Author "Dias, A"
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- Amaurose súbita e doença falciforme: a propósito de um casoPublication . Oliveira, J; Nunes, P; Ferreira, T; Correia, P; Dias, A; Teixeira, S; Silva, F; Bernardo, MOs autores apresentam o caso clínico de uma criança com doença falciforme, internada por choque séptico com meningite e pneumonia a Streptococcus pneumoniae. No decurso do internamento surgiu amaurose súbita à esquerda e herpes mucocutâ- neo labial. O exame oftalmológico foi sugestivo de oclusão arterial no olho esquerdo e de necrose retiniana viral à direita, pelo que foi instituída terapêutica antiviral e anticoagulante. A evolução clínica e imagiológica foi compatível com necrose retiniana aguda. Verificou-se ligeira melhoria da acuidade visual à direita (6/10) mas persistiu um défice grave da acuidade visual à esquerda (< 1/10). A necrose retiniana aguda é um evento raro em idade pediátrica, cujo diagnóstico diferencial inclui outras causas de amaurose súbita.
- Amputação do membro inferior: que reabilitação?Publication . Pereira, I; Cadete, A; Dias, A; Vera-Cruz, C; Prates, L; Beckert, P; Coelho, A; Martinho, C; Patinha, D; Soares, MJ
- Analysis of the generators of epileptic activity in early-onset childhood benign occipital lobe epilepsyPublication . Leal, A; Nunes, S; Dias, A; Vieira, J; Moreira, A; Calado, EOBJECTIVE: The Panayiotopoulos type of idiopathic occipital epilepsy has peculiar and easily recognizable ictal symptoms, which are associated with complex and variable spike activity over the posterior scalp areas. These characteristics of spikes have prevented localization of the particular brain regions originating clinical manifestations. We studied spike activity in this epilepsy to determine their brain generators. METHODS: The EEG of 5 patients (ages 7-9) was recorded, spikes were submitted to blind decomposition in independent components (ICs) and those to source analysis (sLORETA), revealing the spike generators. Coherence analysis evaluated the dynamics of the components. RESULTS: Several ICs were recovered for posterior spikes in contrast to central spikes which originated a single one. Coherence analysis supports a model with epileptic activity originating near lateral occipital area and spreading to cortical temporal or parietal areas. CONCLUSIONS: Posterior spikes demonstrate rapid spread of epileptic activity to nearby lobes, starting in the lateral occipital area. In contrast, central spikes remain localized in the rolandic fissure. SIGNIFICANCE: Rapid spread of posterior epileptic activity in the Panayitopoulos type of occipital lobe epilepsy is responsible for the variable and poorly localized spike EEG. The lateral occipital cortex is the primary generator of the epileptic activity.
- 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, et al.We 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.
- Cardiac rehabilitation ( phase I ) in a community hospitalPublication . Dias, A; Fonseca, A; Vaz, Z; Ferreira, D; Beckert, P; Ferreira, R
- Cuidados de saúde materna e infantil a uma população de imigrantesPublication . Machado, MC; Santana, P; Carreiro, H; Nogueira, H; Barroso, R; Dias, AA proporção de imigrantes nos concelhos de Amadora e Sintra atinge um dos valores mais elevados do país. A equidade na prestação de cuidados tem sido demonstrada como factor de redução das disparidades na saúde que determina a morbilidade e a mortalidade decorrentes da assimetria das populações. Objectivos do estudo – Definir a prevalência dos filhos de imigrantes dos concelhos de Amadora e Sintra; analisar as famílias quanto ao país de origem, integração e procura dos serviços de saúde; avaliar as crianças nos primeiros meses de vida quanto à morbilidade e mortalidade; relacionar as características do contexto físico e social com a saúde/doença. Metodologia – A população estudada é constituída por 1979 nados-vivos e 10 nados-mortos, cujo nascimento ou admissão na sala de partos ocorreu no Hospital Fernando Fonseca (HFF). Resultados – As famílias dos recém-nascidos dos concelhos de Amadora e Sintra que nasceram no HFF são, genericamente, mais privadas sociomaterialmente do que a população da Área Metropolitana de Lisboa e as dos imigrantes estão, ainda, em situação de maior desvantagem. A fragilidade/vulnerabilidade dos imigrantes revela-se nos maus resultados em saúde. Houve maior mortalidade fetal e neonatal e mais patologia durante a gravidez, nomeadamente de doenças infecciosas. Conclusões – Os resultados deste estudo poderão contribuir para reflectir sobre a reorganização dos serviços de cuidados de saúde e para repensar processos de planeamento e modelos de intervenção que culminem numa integração de sucesso nas comunidades imigrantes.
- Doença de KikuchiPublication . Luis, C; Pita, A; Brito, MJ; Cuesta, L; Dias, A; Machado, MCA doença de Kikuchi-Fugimoto é uma doença rara, autolimitada e de origem desconhecida. O quadro clínico manifesta-se mais frequentemente por adenomegálias cervicais, febre e astenia mas a apresentação pode ser variável. Descrevem-se dois casos desta entidade em adolescentes de 14 e 12 anos, do sexo feminino, cujas apresentações clínicas foram distintas. Ambas apresentavam anemia normocítica, leucopenia e elevação da velocidade de sedimentação. O estudo da autoimunidade revelou anticorpos positivos e os achados histológicos da biópsia ganglionar conduziram ao diagnóstico de doença de Kikuchi-Fugimoto. A doença de Kikuchi-Fugimoto deve ser considerada no diagnóstico diferencial de febre e adenomegálias de etiologia desconhecida. A possível associação com lupus eritematoso sistémico torna necessário o seguimento acompanhamento e vigilância destas doentes a longo prazo.
- Drepanocitose em idade pediátrica: avaliação por imagem multimodalPublication . Mota, M; Silva, D; Teixeira, S; Pires, G; Silva, F; Ramalho, M; Coutinho, I; Almeida, A; Pires, G; Dias, A; Prieto, I
- 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.
- Endoscopic bilio-duodenal bypass: outcomes of primary and revision efficacy of combined metallic stents in malignant duodenal and biliary obstructions.Publication . Canena, J; Coimbra, J; Carvalho, D; Rodrigues, C; Silva, M; Costa, M; Horta, D; Dias, A; Seves, I; Ramos, G; Ricardo, L; Coutinho, A; Romão, C; Veiga, PBACKGROUND: Self-expandable metal stents (SEMSs) can be used for palliation of combined malignant biliary and duodenal obstructions. However, the results of the concomitant stent placement for the duration of the patients' lives, as well as the need for and efficacy of endoscopic revision, are unclear. AIM: This study evaluated the clinical effectiveness of SEMS placement for combined biliary and duodenal obstructions throughout the patients' lives and the need for endoscopic revision. METHODS: This study is a retrospective multicenter study of 50 consecutive patients who underwent simultaneous or sequential SEMS placement for malignant biliary and duodenal obstructions. The data were collected to analyze the sustained relief of obstructive symptoms until the patients' death and the efficacy of endoscopic revision, as well as stent patency, adverse events, survival and prognostic factors for stent patency. RESULTS: Technical and immediate clinical success was achieved in all of the patients. Duodenal stricture occurred before the papilla in 35 patients (70 %), involved the papilla in 11 patients (22 %) and was observed distal to the papilla in four patients (8 %). Initial biliary stenting was performed endoscopically in 42 patients (84 %) and percutaneously in eight patients. After combined stenting, 30 patients (60 %) required no additional intervention until the time of their death. The remaining 20 patients were successfully treated using endoscopic stent reinsertion: nine patients needed biliary revision, three patients needed duodenal restenting and eight patients needed both biliary and duodenal reinsertion. The median duodenal stent patency and median biliary stent patency were 34 and 27 weeks, respectively. The median survival after combined stent placement was 18 weeks. A Cox multivariate analysis showed that duodenal stent obstruction after combined stenting was a risk factor for biliary stent obstruction (hazard ratio 6.85; 95 % confidence interval 1.43-198.98; P = 0.025). CONCLUSIONS: Endoscopic bilio-duodenal bypass is clinically effective, and the majority of the patients need no additional intervention until their death. Endoscopic revision is feasible and has a high success rate.
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