Oxidative stress gene polymorphisms may have an impact in the development of ischemic stroke.

BACKGROUND: Antioxidants are responsible for detoxification of harmful effects of reactive oxygen species. Genetic factors may influence antioxidant activity as a result of polymorphisms on antioxidant enzymes. These polymorphisms can be risk in ischemic stroke (IS) risk. IS is a disorder with genetic and environmental factors contributing to overall risk. Although a few studies have been conducted, there have been no reports on catalase (CAT C262T), manganese superoxide dismutase (MnSOD Ala16Val) and glutathione peroxidase 1 (GPX1 Pro198Leu) gene polymorphisms and IS risk. METHODS: We aimed to perform a case-control study to increase the awareness of the impact of oxidative stress (OS) gene polymorphism in the development of IS. A restriction fragment length polymorphism-polymerase chain reaction was used to determine genotypes. The interactions between genes and smoking and possible risk factors were evaluated. RESULTS: An approximately four-fold higher IS risk was found in patients with the Val allele compared to the Ala allele. Smoking was a risk factor in the development of IS for CAT TT and MnSOD Ala/Val genotypes; we found a 3.5- to 5.5-fold higher IS risk in CAT TT and MnSOD Ala/Val genotypes. Different logistic regression models were performed for possible risk factors (smoking, body mass index, low-density lipoprotein and diabetes mellitus). The IS risk increases statistically significant only with age by multiple logistic regression analysis. CAT gene polymorphisms in IS patients were not different from controls. CONCLUSIONS: It is unlikely that CAT and GPX1 single nucleotide polymorphisms are risk factors for IS. The results of the present study show that smoking may be a risk factor for IS risk in patients with MnSOD mutant genotypes.

Analysis of multiple sclerosis patients with electrophysiological and structural tests.

We aimed to analyze the effects of progressive myelin loss and neurodegeneration seen in patients with multiple sclerosis (MS) on visual tract with electrophysiological and structural tests. Fifty-one patients diagnosed with MS in the Neurology Department were followed up in neuro-ophthalmology outpatient clinic irrespective of their visual symptoms, and were included in our study. The patients were classified as the ones with the history of optic neuritis (group II) and ones without the history (group I) of optic neuritis. The data, including clinical presentation, retinal nerve fiber layer thickness (RNFLT) measurements, pattern visual evoked potential (pVEP) and flash electro retino grams (ERG) test results, were recorded. In our study, comparison of pVEP test latencies of groups I and II with each other, and with those of healthy subjects revealed statistically significant differences (p < 0.05). The analysis of rod functions on ERG did not show any significant changes (p > 0.05). However, both groups showed significantly decreased cone b-wave amplitudes, elongation of latencies, and decreased flicker amplitudes on cone and flicker potentials obtained after light adaptation (p < 0.05). There was significant thinning in RNFLT of the both groups when compared to the normal standards. The difference between two groups was statistically significant (p < 0.05). Axon loss is seen in the optic nerve with subclinical or acute optic neuritis in patients with MS. RNFLT analysis and electrophysiological tests are of great importance in diagnosis of MS, as well as to determine progression and to direct neuroprotective therapy in patients diagnosed with MS. Objective analysis methods gain more importance in the diagnosis and follow-up of MS patients, parallel to technological advancements.

The impact of detoxifying and repair gene polymorphisms on oxidative stress in ischemic stroke.

Stroke is a multifactorial disease caused by the combination of certain risk factors and genetic factors. There are possible risk factors having important role in the pathogenesis of stroke. The most important environmental factors are cigarette smoking and oxidative stress which have different sources. GST (M1, T1, P1) have major roles in detoxification of the products of oxidative stress and they are polymorphic. DNA damages can also be repaired by repair enzymes such as OGG1 and XRCC1 which are highly polymorphic and have pivotal roles in repair systems. In the present study, we investigated that polymorphisms in genes involved in detoxification and DNA-repair pathways might modify the individual's risk for ischemic stroke. Furthermore, the products of oxidative stress and antioxidant capacity were measured and the impact of gene polymorphism on them was evaluated. Our data showed that OGG1 Ser326Cys and XRCC1 Arg399Gln gene polymorphisms had impacts on the development of stroke.

Clinical and polysomnographic features of patients with Restless Legs Syndrome.

OBJECTIVE: To reveal clinical and polysomnographic features in patients treated for restless leg syndrome, and to examine the compatibility of sleep data and clinical features. METHODS: The study was conducted at the Department of Neurology, Ankara Numune Training and Education Hospital, Ankara, Turkey, and comprised patients who presented to the outpatient clinic between January and July 2014 who were diagnosed with restless leg syndrome based on the International RestIess Leg Syndrome Study Group criteria. Patients underwent polysomnography test in spontaneous sleep in a single room. SPSS 18 was used for statistical analyses. RESULTS: Of the 18 patients, 13(72%)were females and 5(28%)were males. Overall mean age was 51.56±11.57years (range: 23-66 years). Fourteen (77.8%) patients reported insomnia; 10(55.5%) patients had excessive daytime sleepiness; 13(72.2%) reported snoring; and 3(17%) had apnoea. Mean International Restless Legs Syndrome Study Group Rating Scale score was 26.11±7.9 (range: 16-40).Mean Epworth Sleepiness Scale score was 9.17±5.1 (range: 0-20). CONCLUSIONS: Restless leg syndrome was more common in women and the most common complaint was insomnia.

Evaluating the Frequency of Osmophobia in Tension-Type Headache: A Comparative Study on Migraine.

Introduction Osmophobia is hypersensitivity to certain odors. Although osmophobia is a symptom related to migraine, it is also reported in tension-type headache (TTH). Osmophobia is recommended for inclusion in the migraine diagnostic criteria because it increases sensitivity and shows absolute specificity. However, there is no evidence of the association between TTH and osmophobia. This study aimed to evaluate the prevalence and clinical characteristics of osmophobia in a cohort of migraine and TTH patients. Methods For the current analysis, patients who met the inclusion criteria among patients diagnosed with migraine and TTH according to the International Classification of Headache Disorders III criteria in the neurology outpatient clinics of Ankara City Hospital and Akyazi State Hospital were selected retrospectively. A total of 214 patients (129 with migraine and 85 with TTH) were included in the study. Patients' characteristics, visual analog scale (VAS) pain scores, and Migraine Disability Assessment Scale (MIDAS) scores were recorded. Osmophobia characteristics in migraine and TTH patients were compared along with clinical parameters between the groups and within the groups. Results Osmophobia was found in 68% of migraine patients. The most common type of smell that migraine patients experienced was the scent of perfume. A total of 31.3% of the patients with TTH had osmophobia. While the most irritating odorant in migraine patients was perfume (32%), in TTH patients, it was the smell of food (10.5%). There were no significant differences between osmophobia, and age, education level, disease duration, pain frequency, attack duration, or VAS score in both migraine patients and TTH patients. There was also no significant difference between migraine patients with (2.42) and without (2.33) osmophobia in terms of the MIDAS score. Discussion Our study indicates that osmophobia observed in migraine is valuable in differential diagnosis. However, it can be significantly identified in TTH patients. It should be used together with other supporting criteria in differential diagnosis. It would also be useful to question the characteristics of osmophobia in more detail in the anamnesis.

Genetic variants of folate metabolism and the risk of multiple sclerosis.

BACKGROUND AND AIMS: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) of unknown cause. Alterations in one-carbon metabolism have impact in the pathophysiology by genetic susceptibility to MS and increased the risk of MS. The aim of this study was to investigate the contribution of the gene polymorphism on Methylenetetrahydrofolate Reductase (MTHFR), Methionine Synthase Reductase (MTRR), Methionine Synthase (MTR) enzymes and of the essential factors (homocysteine, Hcy; cysteine, Cys; and vitamin B12, VitB12) in folate metabolism. METHODS: Eligible MS patients (n = 147) and health controls (n = 127) were participated. The gene polymorphisms were analyzed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and the levels of plasma Hcy, Cys and VitB12 were measured by Enzyme Linked Immunuabsorbent Assay (ELISA). RESULTS AND CONCLUSION: Our results showed that the levels of Hcy and VitB12 were lower and the levels of Cys were higher in MS compared to controls. The observation of high Cys values in all 3 gene polymorphisms suggests that the transsulfiration pathway of Hcy is directed towards Cys formation since the methionine synthesis pathway does not work. We could not find any association with all gene polymorphisms with the risk of MS. The T allele of MTHFR C677T and G allele of MTR A2756G are risk factors for serum Cys level on MS. As for MTR A2756G, serum vitB12 was observed in MS patients with G allele.

Iatrogenic botulism cases after gastric and axillary application of botulinum toxin and review of literature.

INTRODUCTION: Iatrogenic botulism is a rare, serious disease that progresses with descending paralysis and develops after cosmetic or therapeutic botulinum toxin-A (BoNT-A) application. CASE PRESENTATIONS: In this case series; six cases of iatrogenic botulism followed up in our center are presented. Four of these developed after gastric BoNT-A and two after axillary BoNT-A application. RESULTS: The most important cause for the disease was the use of unlicensed products and high-dose toxin applications. The first symptoms were blurred vision, double vision, difficulty in swallowing, and hoarseness. Symptoms appeared within 4-10 days after the application of BoNT-A. Symptoms progressed in the course of descending paralysis in the following days with fatigue, weakness in extremities and respiratory distress. Diagnosis was based on patient history and clinical findings. The main principles of foodborne botulism therapy were applied in the treatment of iatrogenic botulism. If clinical worsening continued, regardless of the time elapsed after BoNT-A application, the use of botulinum antitoxin made a significant contribution to clinical improvement and was recommended. CONCLUSIONS: Routine and new indications for BoNT-A usage are increasing and, as a result, cases of iatrogenic botulism will be encountered more frequently. Physicians should be alert for iatrogenic botulism in the follow-up after BoNT-A applications and in the differential diagnosis of neurological diseases that are presented with similar findings.

Bilateral ophthalmic-ethmoidal dural arteriovenous fistula presenting with intracranial hemorrhage: a rare entity.

Dural arteriovenous fistulas (DAVFs) are rare lesions. The most common locations of DAVFs are cavernous, sigmoid and transverse sinuses. Anterior cranial fossa is one of the less frequent placement for DAVFs and the risk of hemorrhage in this region is increased. Reported hemorrhage risks have been ranged from 62 to 91 %, and an aggressive clinical course is more likely than a benign clinical course. A 47-year-old man was admitted to our emergency room with headache and the computed tomography revealed frontal hemorrhage. Neurological examination was normal. We applied cerebral angiography in our interventional neurology department and an anterior cranial fossa DAVFs, supplied by bilateral ophthalmic-ethmoidal arteries, was determined. DAVFs are a rare cause of intracranial hemorrhages and in the literature anterior cranial fossa DAVFs have been reported scarcely, so that we aimed to present this rare entity.

Silent Micro-Infarct in Carotid Artery Stenting: Who Has it and Why?

AIM: To compare the postprocedural cerebral diffusion-weighted imaging (DWI) findings in cases of carotid stenosis (CS)-related carotid plaques in terms of plaque morphology, degree of stenosis, and the use of a distal protection filter. Moreover, we used DWI to assess the asymptomatic cerebral embolism rates during carotid artery stending (CAS) operations performed for noncalcified versus calcified carotid plaques. MATERIAL AND METHODS: Our study included 99 patients admitted to the Ankara City Hospital Stroke Center in 2022. All of our patients have been evaluated and scheduled for CAS as a result of a decision made by the council. Cases of stenosis of > 50% in symptomatic patients and > 70% in asymptomatic patients were included. The patients were grouped according to their Doppler ultrasonography results. All of the patients underwent DWI within the first 24 hours after the procedure, and then two groups of patients were compared. RESULTS: A statistically significant difference was found between the distributions of the presence of silent micro-infarcts on DWI in terms of plaque characteristics (p < 0.001). In the patients with normal DWI findings, the percentage of calcified plaques was 38.7%, while the percentages of hypoechoic plaques, plaques with low echogenicity, and ulcerated plaques were 91.3%, 85.7%, and 78.8%, respectively. The rates of calcified plaques and ulcerated plaques differed in the group of patients with silent microinfarcts. The rate of silent micro-infarcts was 61.3% in the patients with calcified plaques, 8.7% in those with hypoechoic plaques, 14.3% in those with low-echogenicity plaques, and 21.2% in those with ulcerated plaques. CONCLUSION: The study found that carotid stents implanted in calcified and ulcerated plaques had a higher correlation with the presence of periprocedural asymptomatic ipsilateral DWI findings than those implanted in hypoechoic plaques and low-echogenicity plaques.

Endovascular treatment of challenging aneurysms with FRED Jr flow diverter stents: a single-center experience.

PURPOSE: To analyze clinical safety and efficacy of flow re-direction endoluminal device (FRED) Jr flow diverter for treatment of unruptured, ruptured, or recanalyzed aneurysms. MATERIALS AND METHODS: Between October 2019 and February 2022, 25 patients with 31 aneurysms treated with FRED Jr were included in the study. Clinical and radiological records, procedural details, and follow-up outcomes were retrospectively evaluated. Eighteen (72%) patients were female. Median age was 48.8 (age range 9-85). Mean follow-up was 21 months (6-28 months). Location of the aneurysms were as follows; 13 in middle cerebral artery (MCA), 7 in anterior cerebral artery (ACA), 4 in posterior cerebral artery (PCA), 3 in true posterior communicating artery (PCom), 2 in anterior communicating artery (ACom), 1 in superior cerebellar artery (SCA), 1 in true ophthalmic artery. Five patients (20%) presented with acute subarachnoid hemorrhage (aSAH). RESULTS: In all procedures, FRED Jr was successfully deployed. Three true Pcom aneurysms and a true ophthalmic aneurysm were treated with FRED Jr. Three patients with two adjacent aneurysms were treated with a single FRED Jr. In two (8%) patients in-stent thrombosis occurred intraoperatively, they were treated with iv tirofiban and thrombectomy without any sequelae. Post-discharge 2 weeks later, intraparenchymal hemorrhage occurred in a patient. He was treated with surgical drainage, the clinical course was modified Rankin score (mRS) 2. Digital subtraction angiography (DSA) was performed on 16 (64%) patients with 21 (67%) aneurysms. Near complete-complete occlusion (O'Kelly-Morata grading scale (OKM C-D) was documented in 15/16 (93.7%) patients, 20/21 (95.2%) aneurysms. In nine (36%) patients, no residual filling was observed in the magnetic resonance angiography (MRA). Good clinical outcome (mRS 0-1) was achieved in 24/25 (96%) of patients. CONCLUSION: Endovascular treatment of small cerebral aneurysms with FRED Jr is safe and effective even in complex and challenging morphologies allowing high rates of aneurysm occlusion with low periprocedural complications. Our cohort, consisting of a rate 20% acute ruptured aneurysms, is the major additive data to the published literature.