Browsing by Issue Date, starting with "2000-03"
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- Dysembryoplastic neuroepithelial tumorsPublication . REIS, J.L.; VASCONCELOS, C.; RANGEL, R.; XAVIER, J.; BARROSO, C.; MELO‐PIRES, M.; CARVALHO, E.Rev Neurol. 2000 Mar 1-15;30(5):436-41. [Dysembryoplastic neuroepithelial tumors] [Article in Spanish] Reis JL, Vasconcelos C, Rangel R, Xavier J, Barroso C, Melo-Pires M, Carvalho E. Servicio de Neurocirugía, Hospital Geral Santo António, Porto, Portugal. ip222776@ip.pt Abstract INTRODUCTION: The dysembryoplastic neuroepithelial tumors tend to occur in young patients, with partial complex partial seizures which is refractory to medical treatment. These are stable lesions, with defined histological features, specially with clinical data corroboration. CLINICAL CASES: The clinical, imagiological, operative, and histopathological data of six patients with proved dysembryoplastic neuroepithelial tumors were reviewed. All patients had seizures with age at onset ranged from 7 to 27 years. Five lesions were located in the temporal lobe and one in the parietal lobe. Common features included cortical to subcortical location, low density in CT-scan, very low signal intensity on T1-weighted images and high signal on T2-weighted images. Calcification occurred in two lesions, and three showed contrast enhancement. Complete resection of the tumor was performed in three cases, and subtotal resection in other three cases. Pathological features included oligodendroglial-like cells, glioneural component, and few cases showed dysplastic cortical disorganization. The postoperative period of follow-up ranged from 2 to 18 months. Four patients were seizure free, two of which had subtotal resection of the lesion. The remaining two patients maintained seizures. CONCLUSIONS: The clinical, imagiological and histopathological data of the six cases presented are generally compatible with those of the reports reviewed by the authors. The imagiological features are nonspecific. Surgical treatment permits histological diagnosis and epilepsy control. PMID: 10775970 [PubMed - indexed for MEDLINE
- Status epilepticus in the childhood. A Review of seven yearsPublication . OLIVEIRA, D.; OLIVEIRA, M.J.; ALVES, V.; TEMUDO, T.Rev Neurol. 2000 Mar 1-15;30(5):414-8. [Status epilepticus in the childhood. A review of seven years] [Article in Spanish] Oliveira D, Oliveira MJ, Alves V, Temudo T. Hospital Geral de Santo António, Porto, Portugal. Abstract INTRODUCTION: Status epilepticus is a neurological emergency that requires early and prompt treatment. PATIENTS AND METHODS: This retrospective study includes 32 children treated for status epilepticus at Hospital Geral de Santo António, from January 1992 to December 1998. We evaluated the clinical features, duration, aetiology and prognostic. RESULTS: Symptomatic or criptogenetic aetiology was present in 53% of children and idiopathic in 47%. 27% of episodes of status epilepticus were induced by fever. The most common neurological sequel was epilepsy (onset of new epilepsy in 20%; aggravated in 25%). Two children (10%) had major neurological sequelae after status epilepticus. CONCLUSION: In our study the duration of status epilepticus and sequelae seems to be related with aetiology. PMID: 10775965 [PubMed - indexed for MEDLINE]
- High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesPublication . Silveira, I.; Afonso, I.; Guimarães, L.; Mendonça, P.; Santos, C.; Maciel, P.; Matos, J.; Costa, M.; Barbot, C.; Tuna, A.; Barros, J.; Jardim, L.; Coutinho, P.; Sequeiros, J.Abstract The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. Recently, an untranslated (CTG)n expansion on chromosome 13q was described as being the cause of SCA8. We have now (1) assessed the repeat size in a group of patients with ataxia and a large number of controls, (2) examined the intergenerational transmission of the repeat, and (3) estimated the instability of repeat size in the sperm of one patient and two healthy controls. Normal SCA8 chromosomes showed an apparently trimodal distribution, with classes of small (15-21 CTGs), intermediate (22-37 CTGs), and large (40-91 CTGs) alleles; large alleles accounted for only0.7% of all normal-size alleles. No expanded alleles (>/=100 CTGs) were found in controls. Expansion of the CTG tract was found in five families with ataxia; expanded alleles (all paternally transmitted) were characterized mostly by repeat-size contraction. There was a high germinal instability of both expanded and normal alleles: in one patient, the expanded allele (152 CTGs) had mostly contraction in size (often into the normal range); in the sperm of two normal controls, contractions were also more frequent, but occasional expansions into the upper limit of the normal size range were also seen. In conclusion, our results show (1) no overlapping between control (15-91) and pathogenic (100-152) alleles and (2) a high instability in spermatogenesis (both for expanded and normal alleles), suggesting a high mutational rate at the SCA8 locus.