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The aim of this study was to determine the genotype distributions of calcitonin related polypeptide alpha (CALCA) gene polymorphisms according to the plasma total homocysteine levels in ischemic stroke patients and patient subtypes selected from Trakya Region. The study included 82 patients and 92 healthy controls. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to determine the genotype distributions of CALCA gene polymorphisms. The plasma total homocysteine levels were measured by Immulite 2000XPi homocysteine kits. Significant differences were not found between the group of patients and the control group in terms of CALCA gene polymorphisms genotype distributions (p > 0.05). Significant differences were not found between ischemic stroke patients and healthy controls, in the patient subtypes with ischemic stroke in respect to the CALCA gene polymorphisms genotype distributions according to the plasma total homocysteine levels (p > 0.05). This suggests that the CALCA gene polymorphisms genotype distributions studied according to the plasma total homocysteine levels could not likely be considered a genetic risk factor for ischemic stroke development.

Objective: Matrix metalloproteinases (MMPs) are calcium-dependent zinc-containing proteases containing more than 28 enzymes that cause the degrading of the extracellular matrix. Although MMPs play key roles in many biological processes, they influence some pathological processes such as ischemic stroke (IS). Among MMPs, the enzyme most associated with IS is the MMP9 enzyme. This study aimed to evaluate the effect of the C-1562T (rs3918242) gene polymorphism of MMP9 on the development of IS in Turkish patients living in the Trakya Region. Materials and Methods: Our study involved 60 patients with IS and 60 controls. The patients with IS were categorized according to the Trial of ORG 10172 in Acute Stroke Treatment classification of stroke subtypes, and MMP9 C-1652T gene polymorphism was identified using polymerase chain reaction, followed by restriction fragment length polymorphism using the Pael (SphI) restriction enzyme. Results: Genotypes were defined as CC, CT, and TT according to the presence of C and T alleles. No significant differences were identified in the genotype distribution and allele frequency of MMP9 C-1562T gene polymorphism between the patients with IS and controls. Conclusion: Our findings suggest that MMP9 C-1562T gene polymorphism is not associated with the risk of IS in Turkish patients living in the Trakya Region.

Background: Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy. Aims: To determine the variations in the etiopathogenesis, treatment protocol planning, and prognosis of idiopathic generalized epilepsy using the next-generation sequencing method. Study Design: A cross-sectional study. Methods: This study included 32 patients with idiopathic generalized epilepsy. Genomic DNA was obtained from peripheral venous blood samples taken from the patients. A total of 18 genes encoding ion channel subunits that are involved in monogenic disorders and are associated with idiopathic generalized epilepsy were included. The targeted custom next-generation sequencing panel was designed to cover all coding exons and all exon/intron splice site regions of 18 genes. Results: We detected 9 (28%) variations, including 1 likely pathogenic (a variant in the SCN1A gene) and 8 of unknown clinical significance (2 in the CLCN2 genes, GABBR2, SCN1B, SLC2A1, SLC4A10 genes, and 2 in the TBC1D24 gene). Conclusion: Study results should be supported by functional advanced studies, with increased existing knowledge in the relevant variations.

BackgroundMigraine without aura (MwoA) is a very frequent and remarkable comorbidity in patients with idiopathic/genetic epilepsy (I/GE). Frequently in clinical practice, diagnosis of MwoA may be challenging despite the guidance of current diagnostic criteria of the International Classification of Headache Disorders 3 (ICHD-3). In this study, we aimed to disclose the diagnostic gaps in the diagnosis of comorbid MwoA, using a zone concept, in patients with I/GEs with headaches who were diagnosed by an experienced headache expert.MethodsIn this multicenter study including 809 consecutive patients with a diagnosis of I/GE with or without headache, 163 patients who were diagnosed by an experienced headache expert as having a comorbid MwoA were reevaluated. Eligible patients were divided into three subgroups, namely, full diagnosis, zone I, and zone II according to their status of fulfilling the ICHD-3 criteria. A Classification and Regression Tree (CART) analysis was performed to bring out the meaningful predictors when evaluating patients with I/GEs for MwoA comorbidity, using the variables that were significant in the univariate analysis.ResultsLonger headache duration (

Refractory status epilepticus is usually caused by a severe brain injury and has a high rate of mortality and morbidity despite the infusion of antiepileptic drugs and anesthetic agents. Autoimmune encephalitis is one cause of refractory status epilepticus and status epilepticus may be the initial symptom. The seizures are generally resistant to standard treatment and may require immunotherapeutics. This is a description of a patient who had refractory status epilepticus despite appropriate doses of antiepileptic and general anesthetic drugs, but responded to intravenous immunoglobulin therapy. Examinations revealed an ovarian teratoma with a negative serum N-methyl-D-aspartate receptor antibody.

Although bilateral basal ganglia lesions are common in hypoxic encephalopathy and methanol intoxication, they are a rare finding in end-stage chronic renal failure. The pathophysiology of both bilateral and selective involvement of the basal ganglia is unclear, but severe metabolic acidosis is one of the affected processes. In this report bilateral basal ganglia lesions and accompanying signs, which ensued after the use of metformin in a patient with chronic renal failure, are discussed

Background Due to their semiological similarities, psychogenic nonepileptic seizures (PNESs) can occasionally hardly be differentiated from epileptic seizures (ESs), and long-term video-electroencephalographic monitoring (VEM) is needed for the differential diagnosis.

Most of the epileptic seizures that begin at an advanced age are focal onset seizures due to an underlying structural lesion. Generalized myoclonic seizures, usually seen in adolescence, are very rare in elderly patients without a history of epilepsy. In this study, we present a 60-year-old patient with generalized myoclonic seizures with electrophysiological findings. Because of the late-onset, myoclonic jerks were first evaluated with the diagnosis of non-epileptic psychogenic attack in an external health center. The patient was diagnosed with seizure recordings in Electroencephalography-video monitoring. The patient responded well to the antiepileptic treatment and became seizure-free.

Objective: The correct and rapid classification of the ischemic stroke subtype enables the determination of the proper treatment and a better prognosis. In this study, we investigated the association of ischemic stroke subtypes with early diffusion-weighted magnetic resonance imaging (MRI) lesion patterns. Materials and Methods: Three hundred forty-three consecutive patients with acute ischemic stroke were retrospectively evaluated. The ischemic stroke subtype for each patient was determined according to “Trial of Org 10172 in Acute Stroke Treatment Classification”. The lesion patterns in diffusion-weighted MRI in the first 24 hours of stroke were classified as single lesions, diffuse scattered lesions limited to one vascular area, and multiple territory lesions. The relationship between the diffusion-weighted MRI lesion patterns and ischemic stroke subtypes was investigated using the chi-square test. Results: The diffusion-weighted MRI lesion patterns showed significant differences among the ischemic stroke subtypes. Multiple territory lesions were more frequent in the cardioembolic and other determined causes groups compared with the large artery atherosclerosis group. Diffuse scattered lesions limited to one vascular area were more frequent in the large artery atherosclerosis, the unknown cause and the other determined causes groups than the others (p

Objective: The prevalence and incidence of multiple sclerosis may vary according to the influence of the altitude of a geographical area as well as the genetic and environmental factors. This study ained to determine the incidence and prevalence of multiple sclerosis in Edirne population.Material and Methods: Patients with a definite diagnosis of MS according to McDonald’s criteria, admitted to one of the three MS clinics in Edirne, were included in this two-stage study. Also the records of hospitals in İstanbul serving patients from Edirne, have been evaluated. Results: The prevalence rate of confirmed MS patients was 33.9/100000 (95% CI: 32-36) in 2003. The mean annual incidence was 3.48/100000 (95% CI: 2.90-4.00). Mean age of the patients was 36.5±9.6 years. Mean age at onset was 29.2±8.5 years. Mean duration of disease was 6.9±5.2 years. Overall, 69.2% had a relapsing-remitting course, 20.5% had a primary progressive course and 10.3% had a secondary progressive course. Mean Expanded Disability Status Scale score was 3.04±2.18. The prevalence and annual incidence after one year was 36.5 per 100000 (95% CI: 33.2-38.6) and 2.60 per 100000 (95% CI: 2.1-3.8), respectively.Conclusion: This is the first city-based MS prevalence study performed in Turkey. The MS prevalence in Edirne is similar to that of Greece and Bulgaria but lower than that of European countries.