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- Adaptação cultural e propriedades psicométricas da versão portuguesa da escala Pain Assessment in Advanced DementiaPublication . Batalha, LM; Antunes-Duarte, CI; Rosário, RA; Pereira da Costa, MF; Pereira, VJ; Morgado, T
- Amplified and Homozygously Deleted Genes in Glioblastoma: Impact on Gene Expression LevelsPublication . Crespo, I; Tão, H; Nieto, AB; Rebelo, O; Domingos, P; Vital, AL; Patino, MC; Barbosa, MD; Lopes, MC; Resende de Oliveira, C; Orfão, A; Tabernero, MDBACKGROUND: Glioblastoma multiforme (GBM) displays multiple amplicons and homozygous deletions that involve relevant pathogenic genes and other genes whose role remains unknown. METHODOLOGY: Single-nucleotide polymorphism (SNP)-arrays were used to determine the frequency of recurrent amplicons and homozygous deletions in GBM (n = 46), and to evaluate the impact of copy number alterations (CNA) on mRNA levels of the genes involved. PRINCIPAL FINDINGS: Recurrent amplicons were detected for chromosomes 7 (50%), 12 (22%), 1 (11%), 4 (9%), 11 (4%), and 17 (4%), whereas homozygous deletions involved chromosomes 9p21 (52%) and 10q (22%). Most genes that displayed a high correlation between DNA CNA and mRNA levels were coded in the amplified chromosomes. For some amplicons the impact of DNA CNA on mRNA expression was restricted to a single gene (e.g., EGFR at 7p11.2), while for others it involved multiple genes (e.g., 11 and 5 genes at 12q14.1-q15 and 4q12, respectively). Despite homozygous del(9p21) and del(10q23.31) included multiple genes, association between these DNA CNA and RNA expression was restricted to the MTAP gene. CONCLUSIONS: Overall, our results showed a high frequency of amplicons and homozygous deletions in GBM with variable impact on the expression of the genes involved, and they contributed to the identification of other potentially relevant genes.
- Cerebral venous thrombosis: an unexpected complication from spinal surgeryPublication . Lourenço-Costa, B; Shamasna, M; Nunes, J; Magalhães, F; Peliz, AJPURPOSE: To provide new insights into the pathophysiology, prevention and diagnosis of cerebral venous thrombosis (CVT) associated with iatrogenic cerebrospinal fluid (CSF) leaks and/or external CSF drainage. METHODS: Case report and literature review. RESULTS: We describe the case of a 30-year-old woman who developed a CSF fistula after lumbar spinal surgery. The treatment included rest, hydration, caffeine, and continuous lumbar CSF drainage. After closure of the fistula, the patient complained of severe orthostatic headache. Thrombosis involving the superior sagittal sinus, the right transverse sinus, the right sigmoid sinus, and the right jugular vein was diagnosed after neurological deterioration. CONCLUSION: A few reports have associated CVT with various forms of spinal meningeal injury. However, it has been rarely documented following spinal surgery complicated by accidental durotomy and/or external lumbar CSF drainage. CSF hypovolemia may precipitate CVT in patients having prothrombotic risk factors. Patients who have or had CSF leaks and/or lumbar CSF drains who present with symptoms of intracranial CSF hypotension should remain in the horizontal position to prevent CVT. In that context, the diagnosis of CVT depends on a high degree of suspicion.
- Cerebral venous thrombosis: an unexpected complication from spinal surgeryPublication . Costa, BL; Shamasna, M; Nunes, J; Magalhães, F; Peliz, AJPURPOSE: To provide new insights into the pathophysiology, prevention and diagnosis of cerebral venous thrombosis (CVT) associated with iatrogenic cerebrospinal fluid (CSF) leaks and/or external CSF drainage. METHODS: Case report and literature review. RESULTS: We describe the case of a 30-year-old woman who developed a CSF fistula after lumbar spinal surgery. The treatment included rest, hydration, caffeine, and continuous lumbar CSF drainage. After closure of the fistula, the patient complained of severe orthostatic headache. Thrombosis involving the superior sagittal sinus, the right transverse sinus, the right sigmoid sinus, and the right jugular vein was diagnosed after neurological deterioration. CONCLUSION: A few reports have associated CVT with various forms of spinal meningeal injury. However, it has been rarely documented following spinal surgery complicated by accidental durotomy and/or external lumbar CSF drainage. CSF hypovolemia may precipitate CVT in patients having prothrombotic risk factors. Patients who have or had CSF leaks and/or lumbar CSF drains who present with symptoms of intracranial CSF hypotension should remain in the horizontal position to prevent CVT. In that context, the diagnosis of CVT depends on a high degree of suspicion.
- Choroid plexus tumours: a surgically treated seriesPublication . Barbosa, MD; Rebelo, O; Barbosa, P; Lacerda, A; Fernandes, RChoroid plexus tumours-carcinomas and papillomas are rare, especially in adults, and they pose some problems in their diagnosis and management. We have reviewed a series of nine cases from our institution surgically treated during the last 18 years. Their clinical charts, neuroradiological examinations, surgical technique, neuropathology and follow-up were analysed. In only one case total removal proved to be impossible, but even in cases of total removal recurrence appeared in two cases (one carcinoma and one papilloma). Morbility is especially associated with posterior fossa tumours. These rare tumours are managed surgically. They are usually associated with hydrocephalus, and it is difficult to forecast whether or not permanent CSF drainage will be required. A long-term follow-up is needed in patients with this type of tumour.
- Complex sacral fracturePublication . Alves, JL; Duarte, N; Rocha, A; Frade, MJWe reported a case of a patient with suspected cauda equina syndrome secondary to sacral fracture, after sustaining a fall. The difficulty in early diagnosis of complex sacral fractures and the lack of clearly defined guidelines for treatment are highlighted. Thorough clinical examination is mandatory, in order to make an adequate initial assessment and follow symptoms progression and response to treatment. The threshold for performing CT imaging (or MRI, if advised), when suspecting sacral fracture and neurological compromise, should be low. A multidisciplinary approach, with contributions from orthopaedic and/or neurosurgical surgery and physiatry, should be the gold standard of treatment. In this particular case, conservative management and close follow-up led to a significant improvement of problems and a good final outcome, showing that surgical decompression is not the only valid option and that further prospective studies are needed, regarding patient selection and timing of intervention.
- Craniectomia descompressiva na enfarte cerebral malignoPublication . Cabrita, F; Pereira, R; Carvalho, M; Cordeiro, G; Barbosa, MD
- Cystic intraventricular schwannoma: case report and review of the literaturePublication . Barbosa, MD; Rebelo, O; Barbosa, P; Gonçalves, J; Fernandes, RIntraventricular schwannoma is an exceedingly rare tumour with only 6 cases described in the literature. One case of a cystic intraventricular schwannoma operated on at our Institution is analyzed and the other cases reported in the literature are reviewed. Complete removal was achieved and no recurrence was noted after a follow-up period of 10 years. Intraventricular schwannomas are rare tumours that are amenable to complete surgical removal, having a good prognosis without the need of adjuvant therapy.
- Epilepsia pós-traumática: Conceitos médico-legaisPublication . Barbosa, MD; Costa, G
- Hemorragia Subaracnoideia e Angiografia Cerebral por Tomografia ComputorizadaPublication . Santos, N; Machado, E; Carvalho, S; Barbosa, MD; Martins, FWe present a review of 57 cases of nontraumatic subarachnoid hemorrhagesubmitted to CT angiography of the cerebral vessels. The purpose of our study was to estimate the value of CT angiography in the detection of intracranial aneurysms. These findings were compared with those from selective angiography. The results showed that CT angiography is a rapid, low-risk technique with a low level of invasiveness and high specificity and sensitivity in the detection of cerebral aneurysms, allowing the planning of endovascular intervention and surgical approach.
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