Nihal Isik

Association between sporadic Parkinson disease and interleukin-1β -511 gene polymorphisms in the Turkish population

The pathogenesis of Parkinson Disease (PD) remains poorly understood; however, inflammation is thought to play an important role in disease progression. Recent reports suggest that IL-1, a major proinflammatory cytokine, might play a role in PD progression. The purpose of this study was to determine the relationship between IL-1 gene family polymorphisms [IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (-511, +3953)] and PD in the Turkish population. In this study, we examined the genotypes of IL-1 gene family polymorphisms in 365 individuals, of which 199 were healthy control subjects and 166 were PD patients. No significant differences were found in the genotype distribution or in the allele frequencies of IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (+3953) between PD cases and control subjects. However, distribution of the IL-1 beta -511 2/2 (T/T) genotype was found to be significantly lower in PD patients than in healthy controls (p = 0.018, x2: 8.242, OR: 2.211, 95% CI: 1.261-3.877). In addition, the IL-1 beta -511 allele 1 (C) frequency was significantly elevated in PD patients versus controls (p = 0.048, x2: 3.87, OR: 1.178, 95% CI: 0.999-1.388). These results suggest that IL-1 alpha (-889), IL-1Ra and IL-1 beta (+3953) gene polymorphisms have no association with PD, while allele 1 (C) of IL-1 beta (-511) is associated with PD and may provide a susceptibility factor for this disease in the Turkish population. Furthermore, the 2/2 (T/T) genotype of IL-1 beta (-511) may protect individuals from PD.

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.

The effects of thrombomodulin and activated protein C on the pathogenesis of multiple sclerosis

BACKGROUND Various molecules of the coagulation cascade are thought to have varying roles in the pathophysiology of multiple sclerosis (MS). We aimed to find new information about the effects of the coagulation cascade molecules to develop new therapeutic strategies for MS. MATERIALS AND METHODS Patients with MS were chosen from among patients who were followed up at our hospital. We examined the thrombomodulin (TM) and activated protein C (APC) serum levels in patients with MS and the healthy controls. The patient groups were determined as relapsing-remitting MS (RRMS) or secondary progressive MS (SPMS) according to the McDonald criteria and between ages of 18 and 70. RESULTS A total of 244 participants, 122 patients with multiple sclerosis and 122 healthy volunteers were included in the study. There was no statistically significant difference in the APC and TM levels between the patients and the healthy controls (p>0.05), between the patients with RRMS and SPMS (p>0.05), and between the first day of acute relapse and 10th day of methylprednisolone therapy in the patients with RRMS (p=0.334; p=0.363). We detected a statistically positive correlation only between the expanded disability status scale (EDSS) scores and TM levels in the patient group (p=0.009). CONCLUSION Treatment with methylprednisolone decreases EDSS score in RRMS relapse. The increase in EDSS is related to level of TM. The changes in level of TM and APC may be indicator for prognosis of MS or treatment modalities to MS.

Avascular necrosis of the femoral head in multiple sclerosis

Objective: Corticosteroid (CS) therapy is widely used as the standard treatment for acute exacerbations of multiple sclerosis (MS). Avascular necrosis (AVN) of the femoral head is one of the long–term complications related to CS therapy. Our study aims to investigate the association between annual and cumulative doses of CS treatment and radiographic assessment of AVN of the femoral head in MS. Material and Methods: One patient group and two control groups were formed. The study group consisted 60 MS cases treated with intravenous methylprednisolone (IVMP) and the 2 control groups consisted 22 MS patients (Control I) without CS treatment and 25 healthy controls (Control II). Sixty patients who underwent CS treatment were divided into 3 subgroups of 20 cases each, treated with either IVMP only, IVMP and interferon, and IVMP and glatiramer acetate (GA). Neurological examinations and demographic data of all cases were recorded. The presence of AVN of femoral head in patient and control groups was evaluated using magnetic resonance imaging and Ficat staging system. Results: Avascular necrosis (AVN) of femoral head was observed in 4 (6.7%) MS patients who were treated with CS. The mean annual CS dose was 8.07 g and mean cumulative dose was 31 gr. There was a significant but no statistical difference, in annual and cumulative IVMP doses between patients who have and don’t have AVN of femoral head (p=0.085 and p=0.246, respectively). Conclusion: Our all data support the idea that annual dose of CS may increase AVN of femoral head development in MS patients. It is important to evaluate the CS-treated MS patients with MRI in this respect, due to the possible treatment of early-stage AVN of femoral head.

Intracranial arachnoid cysts: Clinical study with the findings of 32 surgically treated cases

Arachnoid cysts (ACs) are commonly encountered fluid collections in the central nervous system. Most cranial ACs are found incidentally and can be managed conservatively. This review presents and discusses clinical findings, diagnostic methods and management of intracranial ACs in 32 patients who were surgically treated in our clinic. The study included 23 male and nine female patients. Most of them were pediatric cases (77%) at the time of surgery. All diagnoses were confirmed on neuroradological examination. Twenty-six of the cysts were supratentorial (81.2%). The most common symptoms at presen- tation were seizures (50%), headache (37.5%), weakness (23%), and hydrocephalus (9%). Cystoperitoneal shunt placement, cra- niotomy, or endoscopic fenestration, are the surgical methods. Long-term outcome was favorable in most of these patients. Untreated, ACs may cause permanent severe neurological damage due to the progressive expansion of the cyst or hemorrhage. However, with surgical treatment most individuals with ACs do well.

Sturge-weber syndrome: a case report with persistent headache

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.

Idiopathic Hypertrophic Cranial Pachymeningitis Associated With Intermediate Uveitis

The authors report a case with idiopathic hypertrophic cranial pachymeningitis associated with intermediate uveitis. The patient complained of decreased vision in both eyes, especially the right. Ophthalmic examination revealed right optic disc pallor, bilateral vitritis, and cystoid macular edema. Magnetic resonance imaging revealed marked enhancement of a dural lesion. The macular edema responded well to medical treatment. Intermediate uveitis has not yet been reported in the context of idiopathic hypertrophic cranial pachymeningitis.

THO41 The clinical and electrophysiological characteristics of n-hexane neuropathy in shoe makers

lower limbs, without conduction velocities changes. Motor studies remained essentially normal. Studies performed 10 months later showed improvement of positive sensory symptoms, but sensory nerve conduction abnormalities persisted, with only light changes. Conclusions: Sensory axonal neuropathy is seen in all our patients treated with oxaliplatin at full dose and persist for a long time after the end of chemotherapy. Follow-up neurophysiological tests are essential to diagnosis and make evident no significative changes in sensory parameters