Browsing by Author "Silva, A"
Now showing 1 - 10 of 15
Results Per Page
Sort Options
- Análise fármaco-económica da utilização de vinorrelbina oral versus vinorrelbina intravenosa no Hospital de BragaPublication . Plácido, A; Silva, A; Gomes, C; Gomes, J; Marques, P; Martins, S
- Association of adult mastocytosis with M541L in the transmembrane domain of KITPublication . Rocha, J; Duarte, ML; Marques, H; Torres, F; Tavares, P; Silva, A; Brito, C
- A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A genePublication . Silva, N; Costa, M; Silva, A; Sá, C; Martins, S; Antunes, A; Marques, O; Castedo, S; Pereira, AWe report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.
- Cavernoma da veia portaPublication . Vilela de Oliveira, J; Azevedo, F; Rocha, M; Silva, A
- Um final feliz: causa rara de hipotonia cervical em lactentePublication . Sampaio, B; Silva, A; Costa, JA; Pereira, A; Silva, H
- Gliossarcoma com metastização do neuro-eixo: caso clínico.Publication . Ramos, R; Lima, J; Moreira, R; Oliveira, L; Soares, A; Almeida, R; Alegria, C; Silva, A; Pardal, F
- Gliossarcomas: casuística do Hospital de BragaPublication . Ramos, R; Lima, J; Moreira, R; Oliveira, L; Soares, A; Almeida, R; Alegria, C; Silva, A; Pardal, F
- Impact of EGFR genetic variants on glioma risk and patient outcomePublication . Costa, BM; Viana-Pereira, M; Fernandes, R; Costa, S; Linhares, P; Vaz, R; Pinheiro, C; Lima, J; Soares, P; Silva, A; Pardal, F; Amorim, J; Nabiço, R; Almeida, R; Alegria, C; Pires, MM; Pinheiro, C; Carvalho, E; Oliveira, P; Lopes, JM; Reis, RMBACKGROUND: The epidermal growth factor receptor (EGFR) regulates important cellular processes and is frequently implicated in human tumors. Three EGFR polymorphisms have been described as having a transcriptional regulatory function: two single-nucleotide polymorphisms in the essential promoter region, -216G/T and -191C/A, and a polymorphic (CA)(n) microsatellite sequence in intron 1. We aimed to elucidate the roles of these EGFR polymorphisms in glioma susceptibility and prognosis. METHODS: We conducted a case-control study with 196 patients with glioma and 168 cancer-free controls. Unconditional multivariate logistic regression models were used to calculate ORs and 95% confidence intervals. A Cox regression model was used to evaluate associations with patient survival. False-positive report probabilities were also assessed. RESULTS: None of the EGFR -216G/T variants was significantly associated with glioma risk. The -191C/A genotype was associated with higher risk for glioma when the (CA)(n) alleles were classified as short for ≤16 or ≤17 repeats. Independently of the (CA)(n) repeat cutoff point used, shorter (CA)(n) repeat variants were significantly associated with increased risk for glioma, particularly glioblastoma and oligodendroglioma. In all tested models with different (CA)(n) cutoff points, only -191C/A genotype was consistently associated with improved survival of patients with glioblastoma. CONCLUSIONS: Our findings implicate EGFR -191C/A and the (CA)(n) repeat polymorphisms as risk factors for gliomas, and suggest -191C/A as a prognostic marker in glioblastoma. IMPACT: Our data support a role of these EGFR polymorphisms in determining glioma susceptibility, with potential relevance for molecularly based stratification of patients with glioblastoma for individualized therapies
- Medicamentos de importação: uma realidade cada vez mais presente nos HospitaisPublication . Castro, G; Gomes, C; Silva, A; Vaz, A
- Metastasis of melanoma into a pituitary adenoma – case report.Publication . Ramos, R; Moreira, R; Fernandes, V; Silva, A; Marques, O; Almeida, R