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.
The distribution of this polymorphism has not been screened in any other MS populations before. Although we could not succeed to find any association between susceptibility to MS and screened FOXP3 gene polymorphisms, we suggest that this particular polymorphism is not appropriate for these kind of studies in the future.
Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Headache is a rare component of SWS and when it occurs it usually occurs as a migraine-like headache. We aimed to present a SWS patient with episodic tension type headache and to draw attention in different types of headaches that can be seen in SWS. A 21 year old female patient with the diagnosis of SWS was suffering from severe headaches. At her physical examination a facial nevus -occurred due to choroid angioma- was observed. On her neurological examination a mild asymmetry of upper extremities was visible. She had a 2 year history of frequent non-pulsating headaches. There was no nausea or aura like symptoms accompanying the headache. Headaches were lasting for hours. The pain was bilateral and pressing in quality. SWS are a very rare and challenging disease for both the patients and their families. Usually migraine type headache is seen in SWS but it should not be forgotten that more generalized headaches like tension type may also be seen.
Purpose: To observe and describe the stiffness changes of the optic nerve in the patients with multiple sclerosis (MS) with or without optic neuritis and healthy adults via shear wave elastography (SWE).Methods: 70 optic nerves from 35 patients with MS and 60 optic nerves from 30 healthy subjects were included prospectively in the study. The optic nerve (ON), optic disc (OD), and perineural area were evaluated with SWE and optic nerve sheat diameter (ONSD) was measured by ultrasound. Results:The mean age of patients was 39.68 ± 9.99 years. There was no statistically significant difference between the groups in terms of ONSD, SWE ON, SWE OD, and SWE perineural area levels (P > .05). In the MS group; No statistically significant difference was found between patients with and without optic neuritis for the mean age, gender distribution, duration of MS, types of MS, ONSD, SWE ON, SWE OD, SWE perineural area, and Expanded Disability Status Scale (EDSS) scores (P > .05).No statistically significant difference in terms of ONSD, SWE ON, SWE OD, and SWE perineural area between the MS patients with or without optic neuritis and the control group (P > .05). Conclusion:Shear wave elastography measurements of the optic nerve, optic disc, and perineural area do not contribute to the evaluation of optic neuritis in a patient with MS.
<b><i>Introduction:</i></b> Multiple sclerosis (MS) is an autoimmune disease that can affect balance, gait, and improve fall risk. The aim of this study was to investigate peripheral vestibular system involvement in MS and associations with the disease severity. <b><i>Methods:</i></b> Thirty-five adult patients with MS and 14 age- and gender-matched healthy controls were evaluated using video head impulse test (v-HIT), cervical vestibular evoked myogenic potential (c-VEMP), ocular vestibular evoked myogenic potentials (o-VEMPs), and sensory organization test (SOT) of computerized dynamic posturography (CDP). The results of both groups were compared, and association with EDSS scores was evaluated. <b><i>Results:</i></b> There was no significant difference between the groups regarding v-HIT and c-VEMP results (<i>p</i> > 0.05). There was no association of the v-HIT, c-VEMP, and o-VEMP results with EDSS scores (<i>p</i> > 0.05). There was no significant difference between the o-VEMP results of the groups (<i>p</i> > 0.05) except for N1-P1 amplitudes (<i>p</i> = 0.01). The amplitudes of N1-P1 were significantly lower in the patients compared to controls (<i>p</i> = 0.01). There was no significant difference between the SOT results of the groups (<i>p</i> > 0.05). However, significant differences were found within and between groups when the patients were categorized according to their EDSS scores with a cutoff point of 3 (<i>p</i> < 0.05). There were negative correlations between the EDSS scores and composite (<i>r</i> = −396, <i>p</i> = 0.02) and somatosensory (SOM) scores (<i>r</i> = −487, <i>p</i> = 0.04) of CDP in the MS group. <b><i>Conclusion:</i></b> Although central and peripheral balance-related systems are affected in MS, the impact of disease on the peripheral vestibular end organ is subtle. In particular, the v-HIT, which was mentioned previously as a detector of brainstem dysfunction could not be a reliable tool in the detection of brainstem pathologies in MS patients. The o-VEMP amplitudes may be affected in the early stages of the disease, possibly due to the crossed ventral tegmental tract, oculomotor nuclei, or interstitial nucleus of Cajal involvements. An EDSS score >3 seems a cutoff level indicating abnormalities in balance integration.
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