The International journal of neuroscience
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Aim: There is a close relationship between systemic inflammation and epileptic seizure. Recently, neutrophil/lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR) have been defined as significant inflammation biomarkers. In the present study, it was aimed to determine levels of NLR, PLR, and mean platelet volume (MPV) during generalized tonic clonic epileptic seizures, and to investigate their relationships with epileptic seizures. ⋯ Conclusion: The most striking finding of the present study is determination of 1 unit increase in NLR results in 1.95 folds increase in epileptic seizure risk in binary logistic regression analysis. Additionally, it indicates that epileptic seizure is correlated with NLR, PLR, and neutrophil mediated inflammation. To the best of authors knowledge, this is the first report indicating that there is a relationship between epileptic seizure and PLR, neutrophil mediated inflammation, and that 1 unit increase in NLR increases epileptic seizure risk by 1.95 folds.
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Case Reports
Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.
Purpose: Sjögren-Larsson syndrome is a rare, autosomal, recessive neurocutaneous disorder caused by mutations in the ALDH3A2 gene, which encodes the fatty aldehyde dehydrogenase enzyme. Deficiency in fatty aldehyde dehydrogenase results in an abnormal accumulation of toxic fatty aldehydes in the brain and skin, which cause spasticity, intellectual disability, ichthyosis, and other clinical manifestations. We present the clinical features and mutation analyses of a case of SLS. ⋯ N386S). Neither of the ALDH3A2 alleles in the compound heterozygote patient were able to generate normal fatty aldehyde dehydrogenase, which were likely responsible for her phenotype of Sjögren-Larsson syndrome. Conclusion: The compound heterozygous mutations found in the ALDH3A2 gene support the diagnosis of Sjögren-Larsson syndrome in the patient and expand the genotype spectrum of the gene.