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1.
Neurol Res ; 46(6): 544-552, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38565201

ABSTRACT

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.


Subject(s)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase , Ferredoxin-NADP Reductase , Folic Acid , Genetic Predisposition to Disease , Homocysteine , Methylenetetrahydrofolate Reductase (NADPH2) , Multiple Sclerosis , Humans , Female , Male , Folic Acid/blood , Folic Acid/metabolism , Multiple Sclerosis/genetics , Multiple Sclerosis/blood , Adult , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Genetic Predisposition to Disease/genetics , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Ferredoxin-NADP Reductase/genetics , Homocysteine/blood , Homocysteine/metabolism , Middle Aged , Vitamin B 12/blood , Cysteine/genetics
2.
J Infect Dev Ctries ; 18(3): 480-487, 2024 Mar 31.
Article in English | MEDLINE | ID: mdl-38635607

ABSTRACT

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.


Subject(s)
Botulinum Toxins, Type A , Botulinum Toxins , Botulism , Clostridium botulinum , Humans , Botulinum Antitoxin/therapeutic use , Botulinum Toxins/adverse effects , Botulinum Toxins, Type A/adverse effects , Botulism/diagnosis , Botulism/drug therapy , Botulism/etiology , Iatrogenic Disease , Paralysis/complications , Paralysis/drug therapy
3.
Turk Neurosurg ; 33(6): 1069-1077, 2023.
Article in English | MEDLINE | ID: mdl-37846536

ABSTRACT

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.


Subject(s)
Carotid Stenosis , Humans , Carotid Stenosis/complications , Carotid Stenosis/diagnostic imaging , Carotid Stenosis/surgery , Constriction, Pathologic , Stents , Carotid Arteries/diagnostic imaging , Carotid Arteries/surgery , Infarction , Diffusion Magnetic Resonance Imaging , Risk Factors
4.
Clin Neurol Neurosurg ; 228: 107704, 2023 05.
Article in English | MEDLINE | ID: mdl-37003100

ABSTRACT

OBJECTIVE: The course of the vertebral artery and its relationship to the C0-1-2 structures render it particularly vulnerable to mechanical trauma. In the present study, we investigated the course of vertebral arteries along the craniovertebral junction (CJ) to cast light on the biomechanical aspects of aneurysm formation, focusing mainly on the relation of the vertebral artery injuries to the CJ bony landmarks. Herein, we report our experience with fourteen cases of craniovertebral junction vertebral artery (CJVA) aneurysms and their presentations, management, and outcomes. MATERIALS AND METHODS: We extracted from 83 vertebral artery aneurysms only those 14 cases whose aneurysms were located at the C0-1-2. We reviewed all medical records, including operative reports and radiologic images. We divided the CJVA into 5 segments and then carefully reviewed the cases, largely focusing on the CJVA segments involved in the aneurysm. Angiographic outcomes were determined by angiography, which was scheduled at 3-6 months, 1, 2.5, and 5 years postoperatively. RESULTS: A total of 14 patients with CJVA aneurysms were included in the present study. 35.7 % had cerebrovascular risk factors, while 23.5 % had other predisposing factors such as an AVM, an AVF, or a foramen magnum tumor. Predisposing factors in the form of neck trauma, both direct and indirect, were identified in 50 % of cases. The segmental distribution of aneurysms was as follows: three (21.4 %) at CJV 1, one (7.1 %) at CJV 2, four (28.6 %) at CJV 3, two (14.3 %) at CJV 4, and four (28.6 %) isolated to the CJV 5 segment. Of the 6 indirect traumatic aneurysms, 1 (16.7 %) was located at CJV 1, 4 (66.7 %) were located at CJV 3 and 1 (16.7 %) was located at CJV 5. The 1/1 direct traumatic aneurysm (100 %) from the penetrating injury was located at CJV 1. 100 % of cases with cerebrovascular risk factors, the affected vessels were on the dominant side. 42.9 % of cases presented symptoms of a vertebrobasilar stroke. All 14 aneurysms were managed only endovascularly. 85.8 % of patients we implemented flow diverters only. 57.1 % of follow-up cases were completely occluded angiographically, and 42.9 % of cases were near-completely or incompletely occluded at 1, 2.5, and 5-year follow-ups. CONCLUSIONS: The current article is the first report of a series of vertebral artery aneurysms located in CJ. Herein, the association of vertebral artery aneurysm, hemodynamics, and trauma is well established. We clarified all segments of the CJVA and showed that the segmental distribution of CJVA aneurysms significantly differs between traumatic and spontaneous cases. We showed that treatment with flow diverters should be the mainstay of CJVA aneurysm treatment.


Subject(s)
Intracranial Aneurysm , Stroke , Humans , Intracranial Aneurysm/diagnostic imaging , Intracranial Aneurysm/surgery , Intracranial Aneurysm/complications , Cerebral Angiography/adverse effects , Vertebral Artery/diagnostic imaging , Stroke/etiology , Treatment Outcome
5.
Jpn J Radiol ; 41(3): 322-334, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36315360

ABSTRACT

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.


Subject(s)
Embolization, Therapeutic , Endovascular Procedures , Intracranial Aneurysm , Male , Humans , Female , Middle Aged , Child , Adolescent , Young Adult , Adult , Aged , Aged, 80 and over , Treatment Outcome , Retrospective Studies , Aftercare , Patient Discharge , Stents , Intracranial Aneurysm/diagnostic imaging , Intracranial Aneurysm/surgery , Embolization, Therapeutic/methods , Endovascular Procedures/methods
6.
Neurodegener Dis Manag ; 12(6): 323-331, 2022 12.
Article in English | MEDLINE | ID: mdl-35848285

ABSTRACT

Aim: The present study was conducted to assess the impact of gene (vitamin D receptor [VDR] polymorphisms) - environment (serum vitamin D and calcium levels) interaction on multiple sclerosis (MS) risk. Materials & methods: FokI, BsmI, TaqI and ApaI genotyping were performed in 149 MS patients and 127 controls. We measured serum vitamin D and calcium levels. Results: No significant difference between VDR polymorphisms and MS risk was detected. In patients with FokI ff, BsmI Bb, TaqI Tt and ApaI AA genotypes, vitamin D levels were statistically higher. Serum calcium levels were significantly lower in patients with FokI FF, Ff, all BsmI and TaqI genotypes and ApaI AA and Aa genotypes. Conclusion: No significant association was found between VDR polymorphisms with MS risk.


Vitamin D deficiency stands out as an important environmental factor in multiple sclerosis (MS). In recent years, the role of genetic factors associated with vitamin D has also been examined. In addition to the effects of smoking habit, exposure to ultraviolet rays, latitude and inflammatory diseases on MS risk, high vitamin D levels are thought to be protective. Therefore, investigation of genetic factors that play a role in vitamin D metabolism will be helpful in elucidating the etiology of MS disease and in the development of treatment options.


Subject(s)
Multiple Sclerosis , Receptors, Calcitriol , Humans , Receptors, Calcitriol/genetics , Vitamin D , Calcium , Multiple Sclerosis/genetics , Vitamins , Genetic Predisposition to Disease
7.
Turk Neurosurg ; 32(5): 720-726, 2022.
Article in English | MEDLINE | ID: mdl-35179729

ABSTRACT

AIM: To report our experience of mechanical thrombectomy using the SOFIA < sup > TM < /sup > catheter, in terms of its effectivenessicacy and safety. MATERIAL AND METHODS: Acute ischemic stroke patients with large vessel occlusions who underwent mechanical thrombectomy, with the SOFIA < sup > TM < /sup > aspiration catheter as the first-line approach, were retrospectively identified. For all patients, the data, including reperfusion success (modified Thrombolysis in Cerebral Infarction [mTICI]), procedural details, clinical status at the baseline and post-discharge at 90 days, and complications, were analysed. RESULTS: During the study period (January 2017-July 2020), 73 patients underwent endovascular thrombectomy. The mean age and the baseline National Institutes of Health Stroke scores were 72 (41-83) and 16 (12-25), respectively. Successful reperfusion (mTICI≥2b-3) was obtained in 80.8 % (n=59) of the patients. Using ADAPT, a first-pass effect was achieved in 63.01% (n=46) of the patients. Rescue stent retriever (SRV) had to be utilized in 36.98% (n=27) of the patients; all presented with a favourable clinical outcome (modified Rankin score ≤0-2) at 90 days. The complication rate in the study was 13.7% (n=10). CONCLUSION: The contact aspiration approach with SOFIA < sup > TM < /sup > catheters as a first-line device appears to be fast, safe, and effective. Our results were comparable to the findings of other series. In the case of insufficient response on contact aspiration, we could easily modify the SOFIA < sup > TM < /sup > catheter approach for an additional stent retriever rescue treatment.


Subject(s)
Brain Ischemia , Endovascular Procedures , Ischemic Stroke , Stroke , Thrombosis , Aftercare , Brain Ischemia/complications , Catheters/adverse effects , Cerebral Infarction/complications , Endovascular Procedures/methods , Humans , Patient Discharge , Retrospective Studies , Stents/adverse effects , Stroke/complications , Stroke/surgery , Treatment Outcome
8.
Basic Clin Pharmacol Toxicol ; 130(1): 158-170, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34582115

ABSTRACT

Oxidative stress plays an important role in the degeneration of dopaminergic neurons, which causes Parkinson's disease (PD). Oxidative stress products, antioxidant and their balance have important roles in the development of oxidative stress-based PD. The impact of reactive oxygen species (ROS) and defence systems can be altered by genetic polymorphisms, and thus the risk of PD may also be affected. We aimed to investigate the possible association of individual susceptibility with the development of oxidative stress-based PD. For this purpose, we measured serum levels of folic acid, homocysteine, Vitamin B6 and B12 that play roles in folate-dependent one-carbon pathway, oxidant or antioxidant enzymes (NADPH oxidase, MnSOD, GPX), 8-OHdG and repair enzymes (OGG1, XRCC1 and MTH1) by ELISA, and analysed related gene polymorphisms by PCR-RFLP. XRCC1, ROS, NADPH and folic acid levels were found to be statistically higher in patients than controls. XRCC1, MnSOD and GPX activities were increased. We observed higher levels of 8-OHdG in patients with MnSOD and XRCC1 mutant genotypes and higher XRCC1 levels in patients with NOX p22 fox mutant genotypes rather than controls. We suggest that routinely clinical validation of major oxidative stress-related biomarkers will be a good approach to manage detrimental effects of PD.


Subject(s)
Oxidative Stress/genetics , Parkinson Disease/physiopathology , Superoxide Dismutase/genetics , X-ray Repair Cross Complementing Protein 1/genetics , 8-Hydroxy-2'-Deoxyguanosine/blood , Aged , Antioxidants/metabolism , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , NADPH Oxidases/genetics , Parkinson Disease/genetics , Polymorphism, Genetic , Reactive Oxygen Species/metabolism
9.
Neurosci Lett ; 735: 135203, 2020 09 14.
Article in English | MEDLINE | ID: mdl-32603833

ABSTRACT

Parkinson's Disease (PD), a chronic and progressive neurodegenerative disease of the brain, is associated with the loss of dopaminergic neurons. Its pathogenesis remains unclear; however, oxidative DNA damage due to reactive oxygen species (ROS) is believed to play a major role in the etiology of PD. DNA repair systems can mitigate oxidative DNA damage and help to maintain genomic stability and thus prevent neuronal death. However, gene polymorphisms on DNA repair enzymes may alter the functions of enzymes and increase the risk of PD. The present study aims to investigate a possible link between the OGG1, XRCC1, and MTH1 gene polymorphisms and PD risk in 97 patients with PD and 102 controls in the Turkish population. Our genotyping study utilizing polymerase chain reaction-restriction fragment length polymorphism revealed no relationship between two gene polymorphisms (OGG1Ser326Cys and MTH1Val83Met) and PD risk. Participants with the XRCC1 variant genotypes had a two to three and a half fold higher risk of PD than controls (p = 0.046, OR = 1.910, 95 % CI= [1.013-3.603] and p = 0.006, OR = 3.742, 95 % CI= [1.470-9.525], respectively). Our results suggested that XRCC1 Arg399Gln polymorphism is a risk factor for PD.


Subject(s)
DNA Repair Enzymes/genetics , Parkinson Disease/enzymology , Parkinson Disease/genetics , Polymorphism, Single Nucleotide/genetics , X-ray Repair Cross Complementing Protein 1/genetics , Adult , Aged , Aged, 80 and over , Case-Control Studies , DNA Glycosylases/genetics , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Middle Aged , Phosphoric Monoester Hydrolases/genetics
11.
J Gene Med ; 19(3)2017 Mar.
Article in English | MEDLINE | ID: mdl-28198160

ABSTRACT

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.


Subject(s)
Disease Susceptibility , Oxidative Stress , Polymorphism, Genetic , Stroke/genetics , Stroke/metabolism , Aged , Aged, 80 and over , Alleles , Biomarkers , Case-Control Studies , Catalase/genetics , Female , Gene Frequency , Genotype , Glutathione Peroxidase/genetics , Humans , Male , Middle Aged , Risk Factors , Stroke/diagnosis , Superoxide Dismutase/genetics , Glutathione Peroxidase GPX1
12.
J Matern Fetal Neonatal Med ; 30(24): 2895-2899, 2017 Dec.
Article in English | MEDLINE | ID: mdl-27019150

ABSTRACT

AIM: To evaluate the clinical characteristics of pregnant women with restless leg syndrome (RLS). MATERIALS AND METHODS: A total of 600 pregnant women were asked to complete a questionnaire of RLS and medications. RESULTS: The educational and socio-economical status was significantly lower in study group. The number of patients living in joint family in the study group was statistically higher compared to control group. Hypothyroidism was more frequent in the study group. Calcium and magnesium intake were significantly higher in patients with RLS inversely iron intake was higher in patients without RLS. Lower hemoglobin levels were found to increase the risk of restless leg in pregnancy. Living in a joint family and low educational status were also independent risk factors for restless leg in pregnancy. Iron intake was found to decrease the risk of restless leg. Lower hemoglobin levels were found to be discriminative factor for the presence of RLS. Severity of RLS decreased by iron intake and increased by magnesium intake. CONCLUSION: Hemoglobin levels, iron intake, living in joint family, educational status are the independent risk factors for restless leg in pregnancy. Lower hemoglobin levels and supplementation of iron are the independent predictors for severity of RLS in pregnant women.


Subject(s)
Pregnancy Complications/epidemiology , Restless Legs Syndrome/epidemiology , Adult , Case-Control Studies , Female , Humans , Pregnancy , Prevalence , Risk Factors , Socioeconomic Factors , Surveys and Questionnaires , Turkey/epidemiology , Young Adult
13.
Int Ophthalmol ; 37(3): 649-653, 2017 Jun.
Article in English | MEDLINE | ID: mdl-27538913

ABSTRACT

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.


Subject(s)
Electroretinography/methods , Evoked Potentials, Visual/physiology , Multiple Sclerosis/complications , Nerve Fibers/pathology , Optic Nerve/pathology , Optic Neuritis/diagnosis , Retinal Pigment Epithelium/pathology , Tomography, Optical Coherence/methods , Adult , Disease Progression , Female , Humans , Male , Middle Aged , Multiple Sclerosis/diagnosis , Optic Nerve/physiopathology , Optic Neuritis/etiology , Retinal Pigment Epithelium/physiopathology , Visual Acuity
14.
J Pak Med Assoc ; 66(5): 568-73, 2016 May.
Article in English | MEDLINE | ID: mdl-27183938

ABSTRACT

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.


Subject(s)
Disorders of Excessive Somnolence/complications , Restless Legs Syndrome/complications , Adult , Aged , Disorders of Excessive Somnolence/diagnosis , Female , Humans , Male , Middle Aged , Polysomnography , Restless Legs Syndrome/diagnosis , Sex Factors , Young Adult
15.
Clin Neurol Neurosurg ; 146: 96-101, 2016 Jul.
Article in English | MEDLINE | ID: mdl-27177146

ABSTRACT

OBJECTIVES: Multiple sclerosis is an inflammatory condition of the central nervous system whose etiology is influenced by immunologic, genetic, and environmental factors. Aim of the present study was to determine if any relation exists between IL-18 -137C/G and -607C/A gene promoter polymorphisms on the individual susceptibility of multiple sclerosis and also to investigate the possible effect of IL-18 activity regarding this kind of polymorphism and MS. PATIENTS AND METHODS: 113 patients with clinically definite MS and 135 ethnically-matched controls were participated in this study. IL-18 -137C/G and -607C/A gene promoter polymorphisms were analyzed by Sequence Specific Polymerase Chain Reaction (SS-PCR), while levels of serum IL-18 were measured by Enzyme Linked Immunoassay Assay (ELISA) in patients with MS and healthy controls. RESULTS: Our results showed that the IL-18 -607AA genotype indicated 6 times higher risk in the development of MS (OR=6.883; 3.17-14.96; p<0.001). According to our findings, smoking seems to be an important confounding factor in MS patients with carrying IL-18 -607 AA and CA+AA genotypes. However, no meaningful association was found with IL-18 -137C/G gene promoter polymorphism. CONCLUSION: In conclusion, we suggest that IL-18 -607C/A gene promoter polymorphism is a major genetic factor for determining individual susceptibility to MS, where smoking status also increases the risk of MS.


Subject(s)
Interleukin-18/blood , Interleukin-18/genetics , Multiple Sclerosis/blood , Multiple Sclerosis/genetics , Adult , Female , Genotype , Humans , Male , Middle Aged , Polymorphism, Genetic , Promoter Regions, Genetic , Risk , Smoking/adverse effects , Smoking/genetics
16.
Neurol Sci ; 37(6): 955-61, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26936466

ABSTRACT

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.


Subject(s)
DNA Glycosylases/genetics , DNA-Binding Proteins/genetics , Oxidative Stress/genetics , Polymorphism, Single Nucleotide/genetics , Reactive Oxygen Species/blood , Stroke/genetics , Antioxidants/metabolism , Brain Ischemia/complications , Case-Control Studies , DNA Mutational Analysis , DNA-Binding Proteins/metabolism , Enzyme-Linked Immunosorbent Assay , Female , Genotype , Glutathione Transferase/genetics , Humans , Hydroxyquinolines/blood , Male , Risk Factors , Statistics, Nonparametric , Stroke/etiology , Stroke/physiopathology , Turkey , X-ray Repair Cross Complementing Protein 1
17.
Clin Neurol Neurosurg ; 139: 288-94, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26562193

ABSTRACT

OBJECTIVE: Multiple sclerosis (MS) is an autoimmune neurodegenerative disease with unknown etiology. Oxidative stress (OS) has been implicated to play a role in its cause; therefore, antioxidants and repair systems may help in restoring oxidant-antioxidant balance. Since polymorphisms in DNA repair genes can result in reduced DNA repair capacity, it is important to investigate its association with OS products to demonstrate the impact of individual susceptibility. Our aim is to examine whether a defect in one of the detoxifying and DNA repair enzyme systems could explain the association between MS and exposure to OS products. METHODS: We investigated the association of polymorphisms in the metabolizing and DNA repair genes with serum Reactive Oxygen Species (ROS) levels. Gene polymorphisms were analyzed by simultaneous multiplex and Restriction Fragment Length Polymorphism Polymerase Chain Reaction and serum ROS levels were detected. RESULTS: OGG1 Ser/Cys and Ser/Cys+Cys/Cys genotypes had higher MS risk. XRCC1 Arg/Gln+Gln/Gln genotype increased the risk of MS. CONCLUSIONS: Our data suggested that OGG1 Ser326Cys gene polymorphism is a major genetic factor involved in the development of MS. Smoking is also a pivotal confounding factor for subjects with mutant genotypes of XRCC1 Arg399Gln. Further studies are needed to reaffirm our results.


Subject(s)
DNA Glycosylases/genetics , DNA-Binding Proteins/genetics , Glutathione Transferase/genetics , Multiple Sclerosis/genetics , Reactive Oxygen Species/blood , Adolescent , Adult , DNA Repair Enzymes/genetics , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Multiple Sclerosis/blood , Multiple Sclerosis/epidemiology , Oxidative Stress/genetics , Polymerase Chain Reaction , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , Smoking/epidemiology , X-ray Repair Cross Complementing Protein 1 , Young Adult
18.
Cardiol J ; 22(1): 37-43, 2015.
Article in English | MEDLINE | ID: mdl-24671902

ABSTRACT

BACKGROUND: Platelet activation appears to play an important role in thromboembolic complications of infective endocarditis (IE). Mean platelet volume (MPV) is a potentially useful marker of platelet activity and a quick and easy determinant of thrombotic risk. Hence the aim of this study was to investigate the baseline platelet volume indices (MPV and platelet distribution width [PDW]) in IE patients who developed embolic events in the follow-up period and who did not. METHODS: The study group consisted of 76 consecutive patients (female: 55, male: 21, mean age: 26 years old, ranged: 8-64 years) with definite IE according to Duke Criteria. Thirty four healthy subjects, who were age and gender adjusted, served as the control group. The mean duration of hospital stay was 44 days. RESULTS: Among the IE patients, 13 (13/76, 17.1%) had major embolic events. Significantly larger vegetations were observed in patients with embolic events as compared to non-embolic group (1.4 vs. 1.0 cm, p = 0.03). MPV at hospital admission was higher in patients who had embolic events in the follow-up period compared to both those who did not and the control subjects (10.62 ± 1.13 vs. 9.25 ± 0.97 and 8.93 ± 0.82 fL, p < 0.001, respectively). Similarly, the patients with embolic events had increased PDW compared to the non-embolic ones and the control group (16.31 ± 2.42 vs. 14.35 ± 1.97 and 14.04 ± 1.82%, p < 0.001, respectively). CONCLUSIONS: The present study demonstrated that IE patients with embolic events had increased MPV and PDW values, compared to non-embolics. Future prospective studies with standardized measurements may clarify the clinical role of platelet volume indices in thrombo-embolic complications of IE.


Subject(s)
Embolism/blood , Endocarditis, Bacterial/blood , Mean Platelet Volume , Platelet Activation , Adolescent , Adult , Case-Control Studies , Child , Embolism/diagnosis , Embolism/microbiology , Embolism/therapy , Endocarditis, Bacterial/diagnosis , Endocarditis, Bacterial/microbiology , Endocarditis, Bacterial/therapy , Female , Humans , Length of Stay , Male , Middle Aged , Patient Admission , Predictive Value of Tests , Prognosis , Prospective Studies , Risk Factors , Time Factors , Young Adult
19.
Curr Top Med Chem ; 14(12): 1469-72, 2014.
Article in English | MEDLINE | ID: mdl-24917394

ABSTRACT

Current evidence suggests that endogenous dopamine may act as a neurotoxin following its oxidation to an oquinone and reaction with cellular thiols, which are neutoxic, which may occur spontaneously or via reaction with tyrosinase or some other enzymes. Tyrosinase (E.C. 1.14.18.1) with two cupper ions coordinated by three histidines is a bifunctional enzyme that catalyses both the hydroxylation of tyrosine to L-DOPA and the consequent oxidation of the resulting catechol-containing species to an o-quinone. Therefore, tyrosinase may play a role in neuromelanin formation in the brain and could be central to dopamine neurotoxicity by contributing to the neurodegeneration associated with Parkinson's disease. In the present study, inhibitory effect of ascorbic acid against tyrosinase has been investigated and it has shown a remarkable inhibitory effect in in vitro assays. Then, the in silico-based experiments established through molecular docking calculations and scoring, docking search algorithm, and data plotting indicated that ascorbic acid is strong inhibitor of tyrosinase by interacting with four amino acid units (histidine 263, serine 282, phenylalanine 264, and valin 283) in the active site of the enzyme. The compound also had two long distant hydrogen bindings with Cu1 and Cu2 with distances of 3.57 and 3.41 A, respectively, through its O5 atom.


Subject(s)
Ascorbic Acid/pharmacology , Enzyme Inhibitors/pharmacology , Molecular Docking Simulation , Monophenol Monooxygenase/antagonists & inhibitors , Agaricales/enzymology , Ascorbic Acid/chemistry , Enzyme Inhibitors/chemistry , Monophenol Monooxygenase/metabolism , Structure-Activity Relationship
20.
Neurol Sci ; 34(10): 1851-3, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23423466

ABSTRACT

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.


Subject(s)
Central Nervous System Vascular Malformations/complications , Intracranial Hemorrhages/complications , Central Nervous System Vascular Malformations/diagnosis , Cerebral Angiography , Cranial Fossa, Anterior , Humans , Intracranial Hemorrhages/diagnosis , Male , Middle Aged , Tomography Scanners, X-Ray Computed
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