Journal of neurology
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Journal of neurology · Dec 2009
HLA class II alleles in patients with multiple sclerosis in the Biscay province (Basque Country, Spain).
Genetic susceptibility to multiple sclerosis (MS) is associated with genes of the major histocompatibility complex, particularly with the HLA DRB1*1501-DQA1*0102-DQB1*0602 haplotype in Caucasians. To investigate the association of DRB1, DQA1 and DQB1 alleles and haplotypes with MS in Biscay, Basque Country, northern Spain, we examined 197 patients and 200 regionally matched controls. High resolution HLA class II typing was performed by polymerase chain reaction followed by sequence-specific oligonucleotide probe hybridization. ⋯ On the other hand, several alleles showed lower frequencies in the MS group: DRB1*0101, DQA1*0101, DQB1*0303, and DQB1*0501, but only DRB1*0101 and DQB1*0303 maintained a negative association with the disease in the regression analysis. Three haplotypes were identified as potentially predisposing for MS in our population: DRB1*1501-DQA1*0102-DQB1*0602, DRB1*0402-DQA1*0301-DQB1*0302, and HLA-DRB1*013-DQA1*05-DQB1*0301. Additionally, three haplotypes associated with a lower risk for MS were identified, exhibiting DRB1*0101-DQA1*0101-DQB1*0501 the strongest negative association with MS [12% in controls vs. 3.8% in MS, Pc = 0.00047, OR = 0.290 (95% CI = 0.160–0.528)], and suggesting, therefore, a putative protective role for this haplotype in the population under study.
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Choreathetosis due to thyrotoxicosis is a rare movement disorder of acute onset. Here we present the first report of choreathetosis secondary to abuse of levothyroxine. A 35-year-old woman with autoimmune thyroiditis tripled her daily levothyroxine intake and lost 20 kg of weight during the following 6 months. ⋯ When levothyroxine was reduced to her usual dosage, all symptoms vanished in 7 days. The prompt effect of dose correction points towards a direct influence of levothyroxine on the basal ganglia; alternatively, the effects of levothyroxine might have been indirect and, possibly, autoimmune-mediated. Abuse of levothyroxine and related thyroid-tropic substances should be included into the differential diagnosis of acute choreathetosis.
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Long-term survival of patients with histologically confirmed glioblastoma is a rare event with figures in the range of 2-3% for 5-year survival (Scott et al. in Ann Neurol 46:183-188, 1999; McLendon and Halperin in Cancer 98:1745-1748, 2003; Krex et al. in Brain 130:2596-2606, 2007). Prognosis and further clinical course of these patients beyond 5 years after diagnosis are in essence unknown with only anecdotal reports of patients surviving for 10 years or more (Salvati et al. ⋯ We here report on the extended follow-up (mean, 139.4 months) of a cohort of glioblastoma long-term survivors. Very late relapses occurred in many patients even after more than 10 years of progression-free survival.
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There are established drugs for the treatment of status epilepticus (SE) but their potentially hazardous side-effects are well known. Levetiracetam (LEV) is a novel anticonvulsant available for intravenous (i.v.) application. It could be an alternative when standard drugs fail or should be avoided. ⋯ LEV could not terminate SE in seven patients. We documented nausea and emesis in one and elevation of liver enzymes in another patient that were likely to be attributed to LEV. LEV i.v. seems to be safe with relevant efficiency for the treatment of SE in elderly and multimorbid patients when comorbidity and respiratory insufficiency precludes high doses of benzodiazepines or phenytoin.