Journal of the neurological sciences
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Letter Case Reports
New IDH1 I113T mutation associated with BRAF V600E mutation: new driver of gliomagenesis?
IDH mutations and BRAF mutations are classically mutually exclusive and usually associated with infiltrative or circumscribed gliomas and glioneuronal tumors respectively. ⋯ We report a new IDH1 mutation associated with BRAF mutation in a very unusual glial tumor.
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Cognitive deficits worsen the quality of life in multiple sclerosis and may be predicted by deep gray matter atrophy, especially thalamic atrophy. This relationship has not been studied in the clinically isolated syndrome (CIS). The aims of this study were to assess cognitive deficits in patients with CIS and relapsing-remitting multiple sclerosis (RRMS) using neuropsychological testing, to search for thalamic atrophy on brain MRI, and to test for their correlations. ⋯ Cognitive deficits in CIS resemble those found in the later stages of MS and may be directly related to the amount of thalamic damage.
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Early brain injury (EBI), following subarachnoid hemorrhage (SAH), comprises blood-brain barrier (BBB) disruption and consequent edema formation. Peripheral leukocytes can infiltrate the injured brain, thereby aggravating BBB leakage and neuroinflammation. Thus, anti-inflammatory pharmacotherapies may ameliorate EBI and provide neuroprotection after SAH. ⋯ Furthermore, JWH133 treatment significantly increased TGF-β1 expression and prevented an SAH-induced increase in E-selectin and myeloperoxidase. Lastly, SAH resulted in a decreased expression of the tight junction protein zonula occludens-1 (ZO-1); however, JWH133 treatment increased the ZO-1 expression. We suggest that CB2R stimulation attenuates neurological outcome and brain edema, by suppressing leukocyte infiltration into the brain through TGF-β1 up-regulation and E-selectin reduction, resulting in protection of the BBB after SAH.
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Matrix metalloproteinases (MMPs) play an important role in early atherosclerosis, extracellular matrix remodeling, plaque rupture and myocardial infarction. MMP gene polymorphisms contribute to the risk of developing cardiovascular diseases. In this study, we investigated, for the first time, the association between MMP-1-16071G/2G, MMP-12 -82A/G and MMP-12 1082A/G genotypes and haplotypes and the risk of ischemic stroke (IS) among patients with type 2 diabetes mellitus (T2DM). ⋯ However, MMP-12 polymorphisms genotypes were associated with the higher risk of IS in diabetic patients compared with total patients. The -82G-1082G haplotype of MMP-12 polymorphisms was associated with higher risk of ischemic stroke in diabetic patients [AOR=2.33; 95% CI (1.25-3.62), P=0.032]. These findings showed that there was an important joint effect of the MMP-12 polymorphisms and T2DM on the risk of IS and therefore it can be considered as a potential marker of cerebrovascular disorders in diabetic patients.
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Ventriculitis also referred as ependymitis or ventricular empyema is a known complication of pyogenic meningitis. Despite high incidence of tubercular meningitis in developing countries, there are hardly any reports of tubercular ventriculitis. ⋯ Tubercular ventriculitis is a rare complication of tubercular meningitis. MRI feature of sequestered ventricles/intraventricular septations and hyperintense ependymal wall on MT images could suggest tubercular etiology. Symptomatic hydrocephalus may require CSF diversion in most patients.