http://comum.rcaap.pt/handle/123456789/1949 Sun, 19 May 2013 15:55:24 GMT 2013-05-19T15:55:24Z http://comum.rcaap.pt/handle/123456789/3590 Title: Impact of EGFR genetic variants on glioma risk and patient outcome Authors: 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, RM Abstract: BACKGROUND: 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 Sat, 01 Jan 2011 00:00:00 GMT http://comum.rcaap.pt/handle/123456789/3590 2011-01-01T00:00:00Z http://comum.rcaap.pt/handle/123456789/3557 Title: Primary spinal glioblastoma: A case report and review of the literature Authors: Morais, N; Mascarenhas, L; Soares- Fernandes, JP; Silva, A; Magalhães, Z; Moreira da Costa, A Abstract: Primary spinal glioblastoma (GBM) is a rare disease, with an aggressive course and a poor prognosis. We report a case of a 19-year-old male with a 4-week history of progressive weakness in both lower limbs, which progressed to paraparesis with a left predominance and difficulty in initiating urination over a week. Spine magnetic resonance imaging (MRI) showed an intramedullary expansile mass localised between T6 and T11. We performed a laminotomy and laminoplasty between T6 and T11 and the tumour was partially removed. Histopathological study was compatible with GBM. The patient was administered focal spine radiotherapy with chemotherapy with temozolamide. Serial MRI performed after the initial surgery demonstrated enlargement of the enhancing mass from T3 to T12 and subarachnoid metastatic deposits in C2 and C4, the pituitary stalk, interpeduncular cistern, left superior cerebellar peduncle and hydrocephalus. We review the literature with regard to the disease and treatment options, and report the unique features of this case. Primary spinal GBM is an extremely rare entity with a poor prognosis and a short survival time. An aggressive management of the different complications as they arise and improvement of current modes of treatment and new treatment options are required to improve survival and ensure better quality of life. Tue, 01 Jan 2013 00:00:00 GMT http://comum.rcaap.pt/handle/123456789/3557 2013-01-01T00:00:00Z http://comum.rcaap.pt/handle/123456789/3516 Title: Um final feliz: causa rara de hipotonia cervical em lactente Authors: Sampaio, B; Silva, A; Costa, JA; Pereira, A; Silva, H Thu, 01 Jan 2009 00:00:00 GMT http://comum.rcaap.pt/handle/123456789/3516 2009-01-01T00:00:00Z http://comum.rcaap.pt/handle/123456789/2883 Title: Primary angiitis of the central nervous system: an infrequent form of presentation Authors: Jordão, MJ; Almeida, F; Moreira da Costa, JA; Rocha, J Abstract: INTRODUCTION: Primary angiitis of the central nervous system (CNS) is a rare disease. Clinical signs and symptoms include headache and cognitive disorders associated to multifocal neurological deficits. A definitive diagnosis can only be achieved by means of a cerebromeningeal biopsy. CASE REPORT: We describe the case of a 15-year-old male who first reported lower back pain and progressive paresis of the right lower limb, later followed by laterocollis on the right side. Magnetic resonance (MR) scanning of the brain and spinal cord revealed a pseudotumoral lesion in the right cerebellum and two lesions in the spinal cord. Dexamethasone was administered and surgical resection of the cerebellar lesion was performed. Following surgery, the patient received corticoid treatment with progressive withdrawal. Full clinical recovery of the patient was achieved. A year later, the same patient was admitted to hospital again because of headaches and diplopia. A new MR brain scan showed a right frontotemporal lesion. Dexamethasone was administered and the patient recovered. Thirteen months later, he reported dysarthria and right-side hemiparesis. An MR brain scan revealed the presence of a number of bilateral lesions in the white matter. Results of a lumbar puncture showed lymphocytic pleocytosis and raised protein levels in cerebrospinal fluid. The laminae from the cerebromeningeal biopsy were reviewed and the results confirmed the hypothetical diagnosis of angiitis of the CNS. Treatment was established with intravenous cyclophosphamide in association with oral prednisone. CONCLUSIONS: Primary angiitis of the CNS is an infrequent disease and its pathogenesis remains unknown. The definitive diagnosis of these patients is histological. It courses spontaneously and generally has a fatal outcome. Treatment, which consists in an association of cyclophosphamide and prednisone, must be started as early as possible. Mon, 01 Jan 2007 00:00:00 GMT http://comum.rcaap.pt/handle/123456789/2883 2007-01-01T00:00:00Z