Multiple sclerosis: association with the interleukin-1 gene family polymorphisms in the Turkish population.

BACKGROUND: Multiple Sclerosis (MS) is a neurodegenerative disease. It involves inflammation and demyelination. Since cytokines play an important role in the development of MS, genes encoding cytokines such as the Interleukin (IL)-1 family are candidate genes for MS susceptibility. OBJECTIVE: To determine the relationship between IL-1 gene family and MS in the Turkish population. METHODS: A total of 409 MS patients and 256 healthy controls were included in the study. IL-1A -889 (rs1800587), IL-1 RN variable number tandom repeat (VNTR), IL-1B -511 (rs 16944) and IL-1B +3953 (rs 1143634) polymorphisms were investigated from the genomic DNA, obtained via blood samples. RESULTS: No association was found between IL-1A and IL-1RN polymorphisms and susceptibility to MS. However, we have found significantly decreased frequency of IL-1B -511 genotype (p = 0.004) in MS patients compared to controls. In addition, there was a significant association between IL-1B -511 (1/2) genotype and early onset MS (EOMS) (p = 0.0001). CONCLUSIONS: Individuals with the 2/2 genotype of IL-1B -511 have significantly decreased incidence of MS, suggesting a protective role for this genotype in the Turkish population. Additionally, IL-1B -511 (1/2) genotype was determined as a possible risk factor for EOMS.

Detecting retinal vigabatrin toxicity in patients with partial symptomatic or cryptogenic epilepsy.

PURPOSE: Detecting retinal vigabatrin toxicity in patients with partial symptomatic or cryptogenic epilepsy can be challenging because of preexisting visual field defects secondary to a structural abnormality in the brain or lack of collaboration. The aim of this study was to measure the retinal nerve fiber layer thickness (RNFLT) with optic coherence tomography (OCT), as well as contrast sensitivity, color vision, and perimetry, in patients with partial symptomatic or cryptogenic epilepsy on vigabatrin, and to determine the efficacy of these tests as markers of vigabatrin-related retinal damage in these subgroups of epileptic patients. METHODS: The study involved 38 patients with either partial symptomatic or cryptogenic epilepsy and 16 healthy individuals comprising the control group. At the time of the study, 14 of the patients were using vigabatrin, 10 were receiving sodium valproate monotherapy, and 14 were on carbamazepine monotherapy. All the participants underwent RNFLT imaging with OCT, contrast sensitivity, color discrimination assessment, and perimetry. RESULTS: The average 360 degrees RNFLT of the vigabatrin group was significantly lower when compared to the other groups. The average RNFLT of all quadrants except the temporal one in the vigabatrin group was also significantly reduced. There was no difference in the mean deviation, contrast sensitivity, and color discrimination between the study groups, but they were all significantly lower than the control group. CONCLUSIONS: RNFLT measurement with OCT can efficiently identify vigabatrin toxicity in patients with partial symptomatic and cryptogenic epilepsy. Perimetry, contrast sensitivity, and color discrimination assessment might be inconclusive in these particular subgroups of epileptic patients.