Neurology
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The objective of this work was to determine the impact of therapeutic hypothermia (TH) on the magnitude and time course of mean diffusivity (MD) changes following hypoxic-ischemic encephalopathy (HIE) in newborns. ⋯ TH slows the evolution of diffusion abnormalities on MRI following HIE in term infants.
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The biomarkers glial fibrillary acid protein (GFAP) and S100B are increasingly used as prognostic tools in severe traumatic brain injury (TBI). Data for mild TBI are scarce. This study aims to analyze the predictive value of GFAP and S100B for outcome in mild TBI and the relation with imaging. ⋯ A relation between GFAP with imaging studies and outcome (determined by RTW) was found in contrast to S100B. As the positive predictive value of GFAP is limited in this category of TBI patients, this biomarker is not suitable for prediction of individual patient outcome.
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To date, seizures in relation to arteriovenous malformations (AVM) have been a secondary target of most studies. The insufficient evaluation, in conjunction with the lack of consistent seizure outcome assessment, has made it been difficult to draw conclusions about seizure outcome after radiosurgery for AVM. This study aimed to determine the effect of radiosurgery on seizure outcome depending on AVM obliteration and on the development of new seizure in patients with AVM. ⋯ Although radiosurgery tends to cause seizures temporarily, the radiosurgery may improve seizure outcomes in patients with AVM-related seizures, especially in patients with AVM obliteration.
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To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE) negative to LGI1 exon sequencing test. ⋯ This is the first microdeletion affecting LGI1 identified in ADLTE. Families with ADLTE in which no point mutations are revealed by direct exon sequencing should be screened for possible genomic deletion mutations by CNV analysis or other appropriate methods. Overall, CNV analysis of multiplex families may be useful for identifying microdeletions in novel disease genes.