The comparative effectiveness of fingolimod, natalizumab, and ocrelizumab in relapsing-remitting multiple sclerosis.

BACKGROUND: Fingolimod, natalizumab, and ocrelizumab are commonly used in the second-line treatment of relapsing-remitting multiple sclerosis (RRMS). However, these have only been compared in observational studies, not in controlled trials, with limited and inconclusive results being reported. A comparison of their effect on relapse and disability in a real-world setting is therefore needed. OBJECTIVES: The objective of this study was to compare the efficacy of fingolimod, natalizumab, and ocrelizumab in reducing disease activity in RRMS. METHODS: This multicenter, retrospective observational study was carried out with prospectively collected data from 16 centers. All consecutive RRMS patients treated with fingolimod, natalizumab, and ocrelizumab were included. Data for relapses, Expanded Disability Status Scale (EDSS) scores, and brain magnetic resonance imaging (MRI) scans were collected. Patients were matched using propensity scores. Annualized relapse rates (ARR), time to first relapse, and disability accumulation were compared. RESULTS: Propensity score matching retained 736 patients in the fingolimod versus 370 in the natalizumab groups, 762 in the fingolimod versus 434 in the ocrelizumab groups, and 310 in the natalizumab versus 310 in the ocrelizumab groups for final analyses. Mean ARR decreased markedly from baseline after treatment in all three treatment groups. Mean on-treatment ARR was lower in natalizumab-treated patients (0.09, 95% confidence interval (CI), 0.07-0.12) than in those treated with fingolimod (0.17, 0.15-0.19, p<0.001), ocrelizumab (0.08, 0.06-0.11), and fingolimod (0.14, 0.12-0.16, p=0.001). No significant difference was observed in mean on-treatment ARR between patients treated with natalizumab (0.08, 0.06-0.11) and ocrelizumab (0.09, 0.07-0.12, p=0.54). Compared to fingolimod, the natalizumab and ocrelizumab groups exhibited a higher percentage of relapse-free patients and a lower percentage of MRI-active patients at year 1. No significance differences in disability accumulation were determined between the therapies. CONCLUSION: Natalizumab and ocrelizumab exhibited similar effects on relapse control, and both were associated with better relapse control than fingolimod. The effects of the three therapies on disability outcomes were similar.

Risk factors for ischemic stroke and stroke subtypes in patients with chronic kidney disease.

BACKGROUND AND PURPOSE: The aim of this study was to compare ischemic stroke subtypes with the effects of risk factors, the relationship between grades of kidney disease and the severity of stroke subtypes. METHODS: The current study was designed retrospectively and performed with data of patients who were hospitalised due to ischemic stroke. We included 198 subjects who were diagnosed with ischemic stroke of Grade 3 and above with chronic kidney disease. RESULTS: In our study were reported advanced age, coronary artery disease, moderate kidney disease as the most frequent risk factors for cardioembolic etiology. Hypertension, hyperlipidemia, smoking and alcohol consumption were the most frequent risk factors for large-artery disease. Female sex and anaemia were the most frequent risk factors for small-vessel disease. Dialysis and severe kidney disease were the most frequent risk factors in unknown etiologies, while male sex, diabetes mellitus, prior stroke and mild kidney disease were the most frequent risk factors for other etiologies. National Institute of Health Stroke Scale (NIHSS) scores were lower for small-vessel disease compared with other etiologies. This relation was statistically significant (p=0.002). CONCLUSION: In order to improve the prognosis in ischemic stroke with chronic kidney disease, the risk factors have to be recognised and the treatment options must be modified according to those risk factors.

Turkish version of the Johns Hopkins Restless Legs Syndrome Quality of Life Questionnaire (RLS-QoL): validity and reliability study.

BACKGROUND AND PURPOSE: Restless legs syndrome (RLS), as well as problems secondary to RLS, may worsen the quality of life. Our aim was to modify the Restless Legs Syndrome Quality of Life (RLS-QoL) questionnaire advanced by Abetz (Health Qual Life Outcomes 3:79, 2005) and to analyse the validity and reliability of the questionnaire. METHODS: Two hundred and one consecutive patients with RLS and forty-three control subjects were included in the study. Permission regarding the translation and validation of the RLS-QoL questionnaire was obtained. The translation was conducted according to the guidelines provided by the publisher. RESULTS: For the RLS subjects, the mean Insomnia Severity Index (ISI) score, the International Restless Legs Syndrome Severity Rating Scale (IRLSSG) score and the computed score of the RLS-QoL questionnaire were 22.60 ± 3.39, 24.83 ± 5.28 and 45.93 ± 17.62, respectively. Among the RLS subjects without insomnia, the mean (±standard deviation) ISI score, IRLSSG score and computed score of the RLS-QoL questionnaire were 6.67 ± 2.34, 15.11 ± 4.03 and 41.93 ± 16.12, respectively. A significant difference was identified between both groups on all scores (ISI: p = 0.001, RLS: p = 0.001). The groups with and without insomnia were similar regarding the computed score of the RLS-QoL questionnaire (p = 0.140). According to a correlation analysis, a significant correlation was identified between the ISI and IRLSSG or RLS-QoL scores (r = 0.513, p = 0.001 and r = -0.383, p = 0.001, respectively). Although the coefficient of correlation is significant between IRLSSG score and RLS-QoL scale score, it should not be considered as a powerful enough correlation (r = 0.190, p = 0.007). Most items also exhibited a strong correlation with each other. The internal consistency determined by Cronbach's alpha indicated an extremely good correlation (0.975). DISCUSSION: These findings suggest the Turkish version of the RLS-QoL questionnaire is a valid and reliable tool for the assessment of the quality of life in patients with RLS.

The prevalence of restless legs syndrome in Edirne and its districts concomitant comorbid conditions and secondary complications.

We aimed to determine the prevalence and risk factors of restless legs syndrome in Edirne and its districts, located in Western Thrace, which is the most western part of Turkey. In this study, 4003 individuals who could communicate and agreed to participate in the study were evaluated. To obtain the data from the applicants in 30 Family Health Centres in Edirne and its districts, a face-to-face questionnaire that consisted of 54 questions was prepared by the researchers. The questionnaire included general information, questions to evaluate potential concomitant comorbid conditions and questions regarding the symptomatology used in restless legs syndrome (RLS) diagnosis, as well as questions to evaluate insomnia and tension-type headache secondary to insomnia according to the ICD-II Criteria (International Classification of Sleep Disorders-II Criteria). Of 4003 individuals, 282 were diagnosed with RLS according to the questionnaire results from Edirne and its districts, and the prevalence of RLS was 7%. Approximately, 47.9% of the patients with RLS were male, and 52.1% were female, which was not significantly different (p > 0.05). Anaemia was identified in 41.1 % of the cases and control group was detected in 19.4 %, which was significantly different (p < 0.001). Secondary insomnia was identified in 64.2% of the cases with RLS and was not detected in 35.8%, which was significantly different (p < 0.001). RLS prevalence studies will increase the awareness of the community and provide early diagnosis and treatment, as well as serve as a basis to reduce morbidity and improve the quality of life.

TURKISH VERSION QUALITY OF LIFE IN ESSENTIAL TREMOR QUESTIONNAIRE (QUEST): VALIDITY AND RELIABILITY STUDY.

BACKGROUND: Our aim was to translate the Quality of Life in Essential Tremor Questionnaire (QUEST) advanced by Troster (2005) and to analyse the validity and reliability of this questionnaire. METHODS: Two hundred twelve consecutive patients with essential tremor (ET) and forty-three control subjects were included in the study. Permission for the translation and validation of the QUEST scale was obtained. The translation was performed according to the guidelines provided by the publisher. After the translation, the final version of the scale was administered to both groups to determine its reliability and validity. RESULTS: The QUEST Physical, Psychosocial, communication, Hobbies/leisure and Work/finance scores were 0.967, 0.968, 0.933, 0.964 and 0.925, respectively. There were good correlations between each of the QUEST scores that were indicative of good internal consistency. Additionally, we observed that all of the QUEST scores were most strongly related to the right and left arms (p=0.0001). However, we observed that all of the QUEST scores were weakly related to the voice, head and right leg (p=0.0001). DISCUSSION: These findings support the notion that the Turkish version of the Quality of Life in Essential Tremor (QUEST) questionnaire is a valid and reliable tool for the assessment of the quality of life of patients with ET.

RESTLESS LEGS SYNDROME AND INSOMNIA FREQUENCY IN PATIENTS WITH PSORIASIS.

BACKGROUND: To assess the prevalence and severity of RLS in psoriasis patients and to investigate its effects on sleep and quality of life. METHODS: Seventy patients with psoriasis in Trakya University Medical Faculty Dermatology Department and also applied to Neurology Department in the same center and 70 volunteer controls were enrolled in the study. Severity of the Restless Legs Syndrome (RLS) was determined using International Restless Legs Syndrome Study Group (IRLSSG) criteria among the patients who have been diagnosed with RLS based on IRLSSG criteria. The presence of insomnia in patients was detected using International Classification of Sleep Disorders (ICSD-II) criteria. Additionally, to evaluate the severity of the disease and quality of life, Psoriasis Area Severity Index (PASI) and Dermatology Life Quality Index (DLQI) tests were applied to the patients with psoriasis. RESULTS: RLS frequency in patients with psoriasis was 28 (40%) compared to the control group 10 (14.2%), and the difference was statistically significant (p<0.001). IRLSSG severity scores were higher in patients with psoriasis who had insomnia secondary to RLS compared to those who did not have insomnia (p<0.001). The mean values of PASI were 7.54 +/- 6.52 in the presence of insomnia and 3.27 +/- 2.69 in the absence of insomnia. The difference was statistically significant (p<0.001). No significant difference was found in DLQI scores between patients with RLS and without RLS or between patients with and without insomnia (p>0.05). DISCUSSIONS: RLS frequency in patients with psoriasis was significantly higher than in the control group. In addition, we found that RLS is more common but RLS severity was mildly high in patients with psoriasis relative to controls. However, there was a correlation between the increase in severity of RLS with secondary insomnia patients who were diagnosed with RLS. It may be beneficial to consider RLS and insomnia for each patient diagnosed with psoriasis.

Early clinical signs, lesion localization, and prognostic factors in unilateral symptomatic internal carotid artery occlusion.

BACKGROUND: The aim of this study was to assess infarct localization, clinical signs, and prognostic factors in cases with unilateral symptomatic total internal carotid occlusion. METHODS: In total, 101 patients who had a diagnosis of symptomatic unilateral carotid occlusion in the Department of Neurology, Trakya University Faculty of Medicine, between January 2008 and May 2012, were included in this study. The relationship between infarct localizations and prognosis of patients was evaluated by cranial magnetic resonance imaging (MRI) and diffusion-weighted MRI. The condition of ipsilateral middle cerebral artery (MCA) and posterior communicating arteries (PCoAs) was assessed by cranial and cervical magnetic resonance angiography besides opposite carotid. Patients were evaluated by modified Rankin Scale in terms of prognosis at discharge and after 3 months. Furthermore, they were evaluated in terms of risk factors, such as cigarette and alcohol use, presence of temporary ischemic attack and stroke history, hypertension, diabetes mellitus, coronary artery disease, previous myocardial infarction, hyperlipidemia, and peripheral vascular disease. RESULTS: Territorial infarct was commonly seen as acute ischemic stroke pattern especially in cases with a poor MCA circulation and insufficient collateral circulation. Development of territorial stroke, occlusion of MCA, and nonvisualization of PCoA were found to be associated with poor prognosis. CONCLUSIONS: In unilateral symptomatic intracranial carotid artery occlusion, poor prognosis and high mortality-associated territorial stroke pattern is frequently observed. Besides, presence of severe stenosis or occlusion and absence of collateral circulation in MCA are associated with poor prognosis.

Which aerobic exercise is more effective in Parkinson's patients? Cycle ergometer versus body weight-supported treadmill.

Objectives: The study aimed to evaluate the effects of aerobic exercise applied with bodyweight-supported treadmill (BWSTT) or cycle ergometer (CE) in Parkinson's patients. Patients and methods: In the prospective single-blind study, 38 Parkinson's patients with Hoehn-Yahr Stage 1-3 were randomized into the CE and BWSTT groups between May 2019 and March 2020. Evaluations before and after six weeks of treatment included a six-min walking test with a software device as the primary outcome and functional balance tests (Tinetti balance and gait test, one-leg stance balance test) as secondary outcomes. Both groups received 40 min of aerobic exercise three days per week with conventional rehabilitation and various methods. CE and BWSTT groups were created. The aerobic exercise program was designed based on treatment recommendations for Parkinson's patients of the American College of Sports Medicine (CE test, with the Karvonen formula, 40-60% reserve). Posttreatment and pretreatment evaluations were compared within and between groups. Results: The six-week aerobic exercise program was completed by 16 participants (9 males, 7 females; mean age: 65.9±8.1; range, 47 to 78 years) in the CE group and 15 participants (9 males, 6 females; mean age: 62.5±7.5; range, 49 to 79 years) in the BWSTT group. The demographic characteristics of the patients were similar. Primary and secondary outcomes were significantly different after treatment than before treatment in both groups. There were no significant differences between the groups in outcomes. Conclusion: The results showed that both methods are effective and not superior to each other. Aerobic exercise programs led by experienced clinicians can benefit patients.

Reversible hepatocerebral degeneration-like syndrome due to portovenous shunts.

Ataxia and tremor are rare manifestations of hepatocerebral degeneration due to portovenous shunts. Ammonia is a neurotoxin that plays a significant role in the pathogenesis of hepatic encephalopathy. A 58-year old male patient was assessed with the complaints of gait disturbance, hand tremor, and impairment of speech. His neurological examination revealed dysarthric speech and ataxic gait. Bilateral kinetic tremor was noted, and deep tendon reflexes of the patient were hyperactive. Serum ammonia level was found to be 156.9 microg/dL. Cranial magnetic resonance (MR) imaging revealed increased signal intensity in bilateral globus pallidus on T1-weighted axial sections, and bilateral prominent hyperintense lesions in the middle cerebellar peduncles on T2-weighted axial sections. On his abdominal MR portography, multiple portohepatic venous collaterals were noted in the right and left lobes of liver parenchyma in 2D FIESTA axial MR sections. To our knowledge, we reported the first case of acquired hepatocerebral degeneration presenting with cerebral symptoms without any hepatic findings in which clinical improvement was noted, and hyperammonemia disappeared following medical treatment.

Investigation of Relationship Between Small Noncoding RNA (sncRNA) Expression Levels and Serum Iron, Copper, and Zinc Levels in Clinical Diagnosed Multiple Sclerosis Patients.

In our study, we aimed to investigate the relationship between microRNA (miRNA) expression levels and serum iron (Fe), copper (Cu), and zinc (Zn) levels in Multiple sclerosis (MS) patients. Total RNA was isolated from peripheral venous blood containing ethylenediaminetetraacetic acid (EDTA) of MS patients and controls. Total RNA was labeled with Cy3-CTP fluorescent dye. Hybridization of samples was performed on microarray slides and arrays were scanned. Data argument and bioinformatics analysis were performed. Atomic absorption spectrophotometer method was used to measure serum Fe, Cu, and Zn levels. In our study, in bioinformatics analysis, although differently expressed miRNAs were not detected between 16 MS patients and 16 controls, hsa-miR-744-5p upregulation was detected between 4 MS patients and 4 controls. This may be stem from the patient group consisting of MS patients who have never had an attack for 1 year. Serum iron levels were detected significantly higher in the 16 MS patients compared to the 16 controls. This may be stem from the increase in iron accumulation based on inflammation in MS disease. According to the findings in our study, hsa-miR-744-5p upregulation has been determined as an early diagnostic biomarker for the development together of insulin resistance, diabetes mellitus associated with insulin signaling, and Alzheimer's diseases. Therefore, hsa-miR-744-5p is recommended as an important biomarker for the development together of diabetes mellitus, Alzheimer's disease, and MS disease. In addition, increased serum Fe levels may be suggested as an important biomarker for neurodegenerative diseases such as Parkinson's disease, Alzheimer's disease, and MS disease.

Use of follow-on fingolimod for multiple sclerosis: Analysis of effectiveness and patient reported outcomes in a real-world clinical setting.

BACKGROUND: Follow-on disease modifying therapies (FO-DMTs) do not always require Phase III studies. There are concerns that cheaper FO-DMTs are only used to reduce healthcare costs. However, the well-being of people with MS (pwMS) should be a priority. We aimed to evaluate the efficacy, safety and treatment satisfaction of one of the FO- Fingolimod (FTY) used in Turkey with the approval of Turkish Ministry of Health. METHODS: PwMS under FTY were recruited from 13 centers and real-world data and answers of satisfaction and adherence statements of pwMS on FTY treatment were analyzed. RESULTS: Data of 239 pwMS were obtained. The duration of FTY treatment was 2.5 ± 0.8 (1-4) years in pwMS who were included in the study and whose treatment continued for at least one year. Significant decreases in annual relapse rate (p < 0.001), Expanded Disability Status Scale (p < 0.001) and neuroimaging findings (p < 0.001) were observed. While 64% of the patients were satisfied and 71.5% were found to adherent with this FO-FTY. CONCLUSION: This multicenter retrospective study found that the efficacy, safety and treatment adherence of a prescribed FO-FTY were consistent with the results of real-world studies. Studies including real-world data may provide guidance to address issues related to FO-FTY use.

Clinical and Demographic Characteristics and Two-Year Efficacy and Safety Data of 508 Multiple Sclerosis Patients with Fingolimod Treatment.

Introduction: Fingolimod is the first oral immunomodulatory treatment used as secondary care therapy in the treatment of multiple sclerosis for the last 10 years. The objective of our study is to reveal the experiences of the first generic fingolimod active ingredient treatment in different centers across Turkey. Method: The first generic fingolimod efficacy and safety data of patients followed-up in 29 different clinical multiple sclerosis units in Turkey were analyzed retrospectively. Data regarding efficacy and safety of the patients were transferred to the data system both before the treatment and on the 6th, 12th and 24th month following the treatment. The data were analyzed using the IBM SPSS 20.00. P value of <0.05 was considered to be statistically significant. Results: A total of 508 multiple sclerosis patients, 331 of whom were women, were included in the study. Upon comparing the Expanded Disability Status values before and after the treatment, a significant decrease was observed, especially at month 6 and thereafter. Since bradycardia occurred in 11 of the patients (2.3%), the first dose had to be longer than 6 hours. During the observation of the first dose, no issues that could prevent the use of the drug occured. Side effects were seen in 49 (10.3%) patients during the course of fingolimod treatment. Respectively, the most frequent side effects were bradycardia, hypotension, headache, dizziness and tachycardia. Conclusion: The observed results regarding efficacy and safety were similar to clinical trial data in the literature and real life data in terms of the first equivalent with fingolimod active ingredient.

Erratum: Clinical and Demographic Characteristics and Two-Year Efficacy and Safety Data of 508 Multiple Sclerosis Patients with Fingolimod Treatment.

[This corrects the article on p. 23 in vol. 60, PMID: 36911568.].

Factors determining the treatment ineffectiveness in multiple sclerosis.

BACKGROUND: In patients with multiple sclerosis (MS), the suboptimal response should be well evaluated at every step of treatment. REVIEW SUMMARY: Determining patients with moderate or high activity and suboptimal response to treatment (clinical variables, MRI activity, perception of the patient and physician, side effects, serious risks, etc.) and timely intervention in the treatment are very important in achieving the desired effectiveness in the long term. Within the early stages, there is a limited time interval for effective treatment of MS patients. During this time, intervention is critical to achieve long-term positive results. After diagnosis, an early and individualized specific treatment for MS, depending on the severity of the disease, can prevent radiological and physical disability in the medium/long term. CONCLUSIONS: With the emergence of a number of new treatments each with their own benefits and risks, a change in the nature of interactions between patients and MS physicians has been anticipated and will be required in the patient-related clinical decision-making process in the developing MS landscape.

Prevalence and Clinical Features of Idiopathic Parkinson's Disease in Western Turkey.

Introduction: We aimed to determine the prevalence and risk factors of idiopathic Parkinson's disease (IPD) in Western Turkey, which encompasses Edirne and its surrounding districts. Methods: In this study, 9887 individuals, able to communicate and agreed to participate in the study, were evaluated. The data was obtained by answering a face-to-face questionnaire consisting of 53 questions from volunteers living at 30 randomly selected family health centers in Edirne and its counties. The questionnaire included demographic information, questions to evaluate potential concomitant conditions, and questions regarding the symptomatology used in IPD diagnosis. Following the questionnaire, it was planned to determine the degree of IPD with the Unified Parkinson's Disease Rating Scale (UPDRS) and the Hoehn and Yahr scale (HY) clinical rating scale in patients diagnosed with IPD to assess disease severity in patients diagnosed with IPD. Results: Of the 9887 individuals, 118 were diagnosed with IPD according to the questionnaire results from Edirne and its districts, and the prevalence of IPD was 1.2%. Approximately, 58.4% of the patients with IPD were male and 41.6% were female, which was not significantly different (p=0.214). Non-motor symptoms such as difficulty urinating, anxiety, depression, fatigue, REM sleep behavior disorder, and difficulty falling asleep or staying asleep were also examined in patients diagnosed with IPD. Depression was identified in 45.7% of the cases, while the control group was 4.3% (p=0.001). Fatigue was identified in 46.8% of the cases and control group was 3.5% (p=0.002). Conclusions: IPD prevalence studies will increase the awareness in the community and provide early diagnosis and treatment as well as serve as a basis to increased life expectancy, reduce morbidity, and improve life quality.

Effect of activity-based training versus strengthening exercises on upper extremity functions in Parkinson's patients; A randomized controlled, single blind, superiority trial.

BACKGROUND: Idiopathic Parkinson's disease is a neurodegenerative disease which is appeared by symptoms such as resting tremor, bradykinesia, rigidity, and postural instability. Such symptoms as tremor, bradykinesia, and rigidity significantly affect patients' upper extremity function. Rehabilitation programs should be implemented to improve the upper extremity functions of patients. OBJECTIVE: Activity-based training would improve dexterity and functional activities to a larger extent than strengthening exercises. This study aimed at evaluating the effect of activity-based training and strengthening exercises on upper extremity functions in Parkinson's disease and to compare the two methods. METHOD: 40 Parkinson's patients with mean of 64.45 ± 9.13 age were randomized and divided into two groups as activity-based training and strengthening exercise group. Patients were evaluated at the beginning and after 6 weeks of treatment with Unified Parkinson's Disease Rating Scale, Parkinson's Disease Questionnaire-39, Duruöz Hand Index, Jebsen Taylor Hand Function Test, Nine-Hole Peg Test, Jamar dynamometer, Jamar pinch meter, Semmes Weinstein Monofilament Test and two-point discrimination. RESULT: In both groups, upper extremity functions, handgrip strengths and quality of life of patients improved significantly. Tactile sense improved only in the activity-based training group. CONCLUSION: Activity-based training is not superior to strengthening exercise programs at improving upper extremity functions and dexterity of Parkinson's patients.

The Turkish experience of COVID-19 infection in people with NMOSD and MOGAD: A milder course?

BACKGROUND: COVID-19 is a multisystemic infection with variables consequences depending on individual and comorbid conditions. The course and outcomes of COVID-19 during neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) are not clearly known. OBJECTIVE/METHODS: The aim of this study was to examine the features and outcomes of COVID-19 infection in NMOSD and MOGAD patients. The patients' demographic and clinical factors, disease modifying treatment (DMT) used and disease information of COVID-19 infection were recorded. Conditions leading to hospitalization and severe exposure to COVID-19 infection were also analyzed. RESULTS: The study included 63 patients from 25 centers. Thirty-two patients (50.8%) belong to AQP-4 seropositive group, 13 (20.6%) and 18 (28.6%) were in MOG-positive and double-seronegative groups, respectively. Risk factors for severe COVID-19 infection and hospitalization were advanced age, high disability level and the presence of comorbid disease. Disease severity was found to be high in double-seronegative NMOSD and low in MOGAD patients. No statistically significant effect of DMTs on disease severity and hospitalization was found. CONCLUSION: In NMOSD and MOGAD patients, advanced age, high disability and presence of comorbid disease pose risks for severe COVID-19 infection. There was no direct significant effect of DMTs for COVID-19 infection.

Fabry Disease Frequency Among Young Cryptogenic Stroke Patients in the City of Edirne, Turkey.

BACKGROUND: We sought to determine the incidence of Fabry disease (FD) in young cryptogenic stroke patients who lived in the City of Edirne, Turkey, and to define the clinical features helping to recognize patients with FD. METHODS: Acute ischemic stroke patients aged 18 to 55 years who were admitted to our hospital between January 2017 and September 2019 were evaluated for inclusion. The screening was performed for α-galactosidase A activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low-plasma α-galactosidase A activity. RESULTS: Two proband cases were detected. The first proband patient was identified as having a 427G>A (rs 104894845) (p.A143T) hemizygous mutation along with his family; 3 patients were identified as having the same hemizygous mutation; and 6 patients were identified as having the same heterozygous mutations. The second proband patient was identified as having a c.352C>T (rs 148158093) (p.R118C) heterozygote mutation along with her family; 5 patients were identified as having the same heterozygote mutation; and 1 patient was identified as having the same hemizygous mutation. Our study identified the FD incidence as 3.27%. CONCLUSIONS: This research is just one of a few studies conducted on FD screening studies in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients, as it is a rare but potentially treatable entity.

Conduction in ulnar nerve bundles that innervate the proximal and distal muscles: a clinical trial.

BACKGROUND: This study aims to investigate and compare the conduction parameters of nerve bundles in the ulnar nerve that innervates the forearm muscles and hand muscles; routine electromyography study merely evaluates the nerve segment of distal (hand) muscles. METHODS: An electrophysiological evaluation, consisting of velocities, amplitudes, and durations of ulnar nerve bundles to 2 forearm muscles and the hypothenar muscles was performed on the same humeral segment. RESULTS: The velocities and durations of the compound muscle action potential (CMAP) of the ulnar nerve bundle to the proximal muscles were greater than to distal muscles, but the amplitudes were smaller. CONCLUSIONS: Bundles in the ulnar nerve of proximal muscles have larger neuronal bodies and thicker nerve fibers than those in the same nerve in distal muscles, and their conduction velocities are higher. The CMAPs of proximal muscles also have smaller amplitudes and greater durations. These findings can be attributed to the desynchronization that is caused by a wider range of distribution in nerve fiber diameters.Conduction parameters of nerve fibers with different diameters in the same peripheral nerve can be estimated.

The prevalence of essential tremor in Edirne and its counties accompanied comorbid conditions.

Objective: We aimed to determine the prevalence and risk factors of Essential Tremor (ET) in Edirne and its districts, located in Western Thrace, which is the most western part of Turkey. Methods: In this study, 3008 individuals who could communicate and agreed to participate in the study were evaluated. To obtain the data from the applicants in 30 Family Health Centres in Edirne and its districts, a face-to-face questionnaire that consisted of 37 questions was prepared by the researchers. The questionnaire included general information, questions to evaluate potential concomitant comorbid conditions and questions regarding the symptomatology used in ET diagnosis, as well as questions to evaluate ET severity, was examined with the spiral test. Patients were classified by using the Washington Heights-Inwood Genetic Study of Essential Tremor (WHIGET) diagnostic and clinical evaluation scale. According to the diagnostic criteria for ET (used in participants who were examined and in those whose medical records were reviewed) were similar to those used in astudy conducted in Turkey. Results: Of 3008 individuals, 173 were diagnosed with ET according to the questionnaire results from Edirne and its districts, and the prevalence of ET was 5.8%. Approximately, 43.4% of the patients with ET were male, and 56.6% were female, which was not significantly different (p > 0.05). Participants with tremor related to alcohol withdrawal, hyperthyroidism, anxiety, depression other known causes of tremor were not considered to have ET. Thyroid disease was identified in 0.0% of the cases, and the control group was detected in 1.4%, which was not significantly different (p = 0.170). Psychiatric disease was identified in 0.0% of the cases, and the control group was detected in 1.3%, which was not significantly different (p = 0.271). Conclusions: ET prevalence studies will increase the awareness of the community and provide early diagnosis and treatment, as well as serve as a basis to reduce morbidity and improve the quality of life.