Cognitive and physical disability in Egyptian patients with multiple sclerosis: genetic and optical coherence tomography study.

Objectives: The aim of this study was to explore the relationship between cognitive dysfunction, neurodegeneration, and genetic factors among multiple sclerosis (MS) patients. Methods: Fifty patients of definite MS were included. Physical disability was assessed by expanded disability status scale (EDSS). Cognitive functions were assessed by using the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS). For each eye, optical coherence tomography (OCT) was used to track thickness of retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC), respecting the previous history of optic neuritis (ON). All patients were genotyped for glutamate N-methyl-D-aspartate receptors (NMDARs). Results: A statistically significant negative correlation was found between scores of EDSS and each of neuropsychological tests scores and thickness of both RNFL and GCC. The predictor for progressive disability assessed by EDSS was Symbol Digit Modalities Test (SDMT) (P = 0.021), that is dependent on the educational level of the patients (P = 0.016). A statistically significant positive correlation was found between scores of all neuropsychological tests and the thickness of both RNFL and GCC. Eighty-three percent of MS patients with CC genotype reported previous attacks of ON with significant thinning in RNFL and GCC despite their higher cognitive performance in comparison to other genotypes. Discussion: Deficit in information processing speed measured by SDMT is a predictor of early progressive disability in MS patients. Thinning of RNFL and GCC is a potential biomarker for cognitive and physical disability in MS. The CC genotype of glutamate NMDAR gene has a divergent effect on visual and cognitive functions.

Evaluating sex hormones and cytokine profile in Egyptian females with relapsing-remitting multiple sclerosis.

BACKGROUND: Sexual dimorphism shown in multiple sclerosis suggests an interaction between immune system and sex hormones. The objective of this study is to determine the hormonal profile and serum cytokine levels in Egyptian female patients with relapsing-remitting MS (RRMS) compared with healthy controls and their associations with disease disability. METHODS: This study was conducted on 40 female patients with RRMS and 20 age-matched controls subjected to measurements of the hormonal profile (estrogen, testosterone) and cytokine levels (interleukin 10 and 4 and tumor necrosis factor alpha) and disability assessment using Expanded Disability Status Scale (EDSS). RESULTS: Levels of estrogen, testosterone, interleukin 10 and 4 (IL-10 and IL-4), and tumor necrosis factor alpha (TNF-α) were higher in patients compared to control with no statistically significant difference. Estrogen levels were positively correlated with interleukin 10 and interleukin 4 levels and negatively correlated with tumor necrosis factor alpha (TNF-α), but there was no statistically significant correlation between hormonal profile or cytokine profile (IL-10, IL-4, and TNF-α) and EDSS. CONCLUSIONS: It is suggested that estrogen has an anti-inflammatory effect on cytokine milieu; therefore, it can be tried as a treatment option in multiple sclerosis.

Focal interictal epileptiform discharges in idiopathic generalized epilepsy.

Are idiopathic generalized epilepsies (IGEs) truly generalized? Do IGEs represent a continuum or rather distinct syndromes? Focal changes in the electroencephalography (EEG) have been reported in IGEs. The aim of this work is to investigate focal interictal epileptiform discharges (IEDs) in IGEs, and their relation to clinical variables. Forty-one IGE patients (classified according to ILAE, 2001) were recruited from a tertiary center (age 23 ± 10.938 years). Their files were reviewed and they were subjected to clinical examination and interictal EEG. Patients with focal IEDs were compared to those without focal IEDs. Nine patients had juvenile myoclonic epilepsy (JME) and 32 had idiopathic epilepsy with generalized tonic-clonic seizures only (EGTCSA). Focal IEDs were found in 20 patients, mostly in the frontal (45.5 %) and temporal (31.8 %) distribution. Patients with focal IEDs were treated with a larger number of combined antiepileptic drugs (AEDs) (p value = 0.022). No significant difference was found between the two groups regarding age, sex, age at onset, epilepsy syndrome, seizure frequency, family history, AEDs used (sodium valproate and carbamazepine) and their doses. Seventeen EGTCSA patients had focal IEDs. They were treated with larger number of combined AEDs (p value = 0.0142). No significant difference was found between the EGTCSA patients with and those without focal IEDs regarding age, sex, age at onset, seizure frequency, family history and AEDs doses. Caution must be applied in the interpretation of interictal focal IEDs. These focal changes may be related to prognosis, however this needs further investigation.

Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.

Serotonin levels might alter susceptibility to seizures. Serotonin transporter (5HTT) gene polymorphisms were found to be associated with some forms of epilepsy. Here, we attempted to examine an association between 5HTT VNTR allele variants in a serotonin transporter gene and epileptogenesis in juvenile myoclonic epilepsy (JME) cases. We conducted a case-control candidate gene study evaluating the frequencies of 5HTT VNTR allele variants using SYBR green real-time PCR with melting curve analysis in JME patients and healthy subjects. Forty patients with JME were selected from the Epilepsy Outpatient Clinic of Kasr Al Ainy Hospital, Cairo University, who had been classified according to the electroclinical classification of the ILAE. The control group consisted of 40 healthy Egyptian subjects. The less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in JME patients (OR 9.33, CI 2.85-30.60; p value < 0.001). In our study we detected an association between the presence of 5-HTTVNTR with less transcriptional efficient genotypes and JME, which suggests that modulation of the serotoninergic system might be indicated in epileptogenesis in JME.