Introduction:Early diagnosis and treatment are essential for the effective treatment of ischemic stroke. The objective of this study was to assess the effect of stroke knowledge among patients and caregivers on hospital arrival, clinical outcomes, and healthcare costs. Methods:This is a cross-sectional study of 219 patients with ischemic stroke and their family members. Awareness of stroke was measured using a structured questionnaire, and the participants were divided into two groups: those with a high level of awareness of stroke and those with a low level of awareness of stroke. The primary outcome measures were time to hospital arrival, modified Rankin Scale (mRS) scores at 1 and 3 months, and the total treatment cost within 3 months. Results:Patients in the high-awareness group presented to the hospital much earlier (58±21.8 min vs. 185±40.3 min, p=0.001), displayed better functional outcome at 1 month (mRS: 1.64 vs. 2.19, p=0.01) and at 3 months (mRS: 1.52 vs. 1.95, p=0.01) and lower treatment costs ($998 vs. $1679, p=0.001). Interestingly, calling the emergency service as a first response was associated with significantly lower costs. On the other hand, low awareness was associated with delayed intervention, worse clinical outcomes, and greater economic strain. Conclusion:A better understanding of the signs of a stroke by patients and their caregivers leads to faster treatment, improved recovery, and lower costs. Stroke awareness can be enhanced through public health efforts, potentially leading to a significant reduction in the clinical and economic burden of stroke.
To evaluate the real-world effectiveness and safety of eculizumab in patients with AQP4-IgG–positive neuromyelitis optica spectrum disorder (NMOSD) and to identify predictors of disability outcomes. This multinational, retrospective cohort study analyzed data from 46 patients across 26 centers. The outcomes included the annualized relapse rate (ARR), relapse-free status, change in expanded disability status scale (EDSS) scores, and adverse events. To identify predictors of EDSS improvement or worsening, patients were stratified into subgroups (improved vs. stable/worsened) at each follow-up time point and compared based on demographic, clinical, and radiological variables. This retrospective cohort study included 46 patients with AQP4-IgG-positive NMOSD from 26 centers, followed for a mean of 27.3 months. The mean ARR significantly decreased from 1.1 in the 2 years pre-treatment to 0.1 during eculizumab therapy. The relapse-free rate increased from 6.5
Introduction: Radiologically Isolated Syndrome (RIS) represents a preclinical stage of multiple sclerosis (MS) characterized by incidental MRI findings suggestive of MS in the absence of neurological symptoms. Identifying imaging biomarkers that predict conversion to MS remains a major clinical challenge. Paramagnetic rim (PR) lesions have emerged as markers of chronic active inflammation in MS; however, their prognostic value in RIS remains unclear. This study aimed to evaluate the impact of PR lesion presence and PR burden on the risk of conversion from RIS to MS. Methods: This retrospective, single-center observational cohort study included 46 patients diagnosed with RIS who had susceptibility-weighted imaging (SWI) sequences available at baseline. PR lesions were defined as hypointense rims on SWI. PR presence was analyzed as a binary variable, and PR burden was categorized according to lesion count. The primary outcome was conversion to MS according to the 2017 McDonald criteria. Associations between PR variables and MS conversion were assessed using odds ratios (ORs) with 95% confidence intervals (CIs). Results: During follow-up, 20 patients (43.5%) converted to clinically definite MS. MS conversion occurred in 63.6% of PR-positive patients compared with 25.0% of PR-negative patients (p<0.001). PR positivity was associated with a significantly increased risk of MS conversion (OR: 5.25; 95% CI: 1.48–18.66). Analysis of PR burden demonstrated a stepwise increase in MS conversion rates with higher PR counts, reaching 77.8% in patients with ≥3 PR lesions. Conclusion: The presence of PR lesions and increasing PR burden are strongly associated with a higher risk of conversion to MS in patients with RIS. PR lesions may serve as clinically meaningful imaging biomarkers for risk stratification and early identification of high-risk individuals in the preclinical stage of MS
Background: Both the presence of multiple sclerosis (MS) and the use of immunomodulatory therapy for this disease can change the vaccine response in individuals with MS. In this study, due to the lack of guidelines for vaccination of MS patients in our country, the aim was to create a Delphi consensus on vaccination practices and vaccine types in MS patients. Methods: The Real-time Delphi technique, a more structured and predefined version of the traditional Delphi study was used to ensure a comprehensive research process. The stages of the structured online Delphi application process, which includes repeated rounds, (three rounds) are applied. Fifteen participants are sufficient to achieve homogeneous outcomes according to expertise criteria and in this study, the group comprised 31 experts who met these criteria and participated in all stages. Results: The assessment of the level of consensus among panelists revealed that there was "almost perfect consensus" on 16 items and "significant consensus" on 12 items. When examining the items in which the panelists did not reach a consensus, it was found that there was "minor consensus (slight-1)" on 1 item, and there was "no consensus (indicate poor-0)" on 2 items. Conclusion: We wanted to share a "country" practice and our current recommendations on vaccination strategies, by making use of articles containing country-based recommendations and working-group recommendations, as well as our national experiences.
INTRODUCTION:GABAB-R encephalitis is a rare recognized autoimmune disease. This study investigates the clinical and laboratory features, treatment response, prognosis, and malignancy associations in GABAB-R encephalitis. METHODS:We included consecutive encephalitis patients with GABAB-R autoantibodies and retrospectively analyzed their clinical data, neuroimaging, EEG findings, seizure characteristics, treatment responses, prognosis, and cancer presence. Prognosis was classified using the final Modified Rankin Score (mRS), with mRS > 2 indicating poor prognosis. RESULTS:There were 17 patients with GABAB-R antibodies (12 males). The mean age at onset was 61.29 (range: 37-86), and the mean follow-up was 20.3 months (range: 6-60). The most common findings at onset were seizures, observed in 10 patients (58.8%), which increased to 13 patients (76.5%) during follow-up, psychiatric symptoms in 35.3%, and hyponatremia in 35.3%. Ten patients required intensive care unit (ICU) admission, and 11 patients had an underlying malignancy, predominantly lung cancer. Additionally, one patient had CASPR2 antibodies, and another had AMPA-R antibodies. Lesion probability map analysis revealed predominant involvement of the bilateral mesiotemporal regions. Patients with a final modified Rankin Scale Score greater than 2 (n = 10) exhibited a higher prevalence of psychiatric symptoms, ICU admission, and hyponatremia. Of the 12 patients on anti-seizure medications, only 8 achieved seizure-free status during follow-up. Those with a paraneoplastic etiology were more likely to present with psychiatric symptoms. Mortality, which occurred in 7 patients, was associated with persistent seizures (4/4 vs 3/10; p = 0.015) and ICU admission (7/7 vs 3/10 p = 0.010) Patients with both serum and CSF antibody positivity showed trends towards exhibiting higher rates of lung cancer and mortality. DISCUSSION:Male gender and seizures are common in GABAB-R encephalitis, which also displays high malignancy and mortality rates. Remarkable prognostic factors include psychiatric symptoms, seizures, malignancy, and hyponatremia. 4(23%) of 17 patients with GABA-B receptor antibody encephalitis experience persistent seizures during follow-up.
Multiple sclerosis (MS) is characterized as an immune-mediated central nervous system disease marked by chronic inflammation, demyelination, and progressive neurodegeneration. In this study, we evaluated the contribution of low-frequency and rare genetic variants to MS susceptibility within one of the largest family-based MS cohorts to date, comprising 215 individuals from 59 Turkish multiplex MS families. Whole exome sequencing was conducted on all samples including affected and unaffected members, followed by investigation of the effect of well-established human leukocyte antigen loci for MS on the elevated MS risk observed in our families. Subsequently, a gene-based burden analysis was performed on candidate genes identified through both our segregation analysis and existing literature. To prioritize the genes and pathways that are potentially associated with MS, a segregation-based analysis of the variants was conducted and complemented by gene-based pathway enrichment analysis. Our results highlighted the significance of the extracellular matrix in MS pathogenesis, as we identified laminin-related genes including LAMA5 and LAMB1 from both the segregation analysis and gene-based burden test. Hemidesmosome assembly emerged as a key pathway in our analysis, primarily driven by the identification of DST and PLEC as significant genes in the gene-based segregation analysis. Finally, we identified two rare coding variants passing our allele frequency and deleteriousness score-based filters, rs41266745 (C> T) in the CD109 gene with CADD phred score 24 and rs143093165 (T> G) in the ITPR1 gene with CADD phred score 22 and LOEUF 0.325, segregating within more than one family. Overall, this is one of the first and largest family-based MS studies from Turkey that features a unique cohort from an admixed population that enabled the detection of novel low-frequency and rare variants associated with MS. The findings from this study offer valuable insights that could guide future research aimed at further exploring and understanding the factors contributing to MS risk.
OBJECTIVES:Kappa free light chains (κ-FLC) have emerged as a reliable biomarker for diagnosing multiple sclerosis (MS). Compared to oligoclonal band (OCB) measurement, κ-FLC presents distinct advantages, including enhanced accessibility in clinical practice. This study evaluates κ-FLC index values in MS patients and explores its potential as a practical alternative to the OCB test. METHODS:Cerebrospinal fluid (CSF) and serum κ-FLC concentrations were quantified using an immunonephelometry analyzer, while OCB analysis was performed via agarose isoelectric focusing combined with immunoblotting. The cut-off values were set at ≥0.7 for the CSF IgG index and ≥6.6 for the κ-FLC index, with values exceeding these thresholds considered positive. κ -FLC index values were compared between OCB-negative and OCB-positive patients, between patients with negative and positive CSF IgG index, and across different OCB types. RESULTS:OCB positivity was detected in 82.7 % of patients, whereas a positive κ-FLC index was observed in 91.7 %. The IgG index was positive in 51.9 % and negative in 48.1 %. Among patients with a negative IgG index, 84.3 % exhibited a positive κ-FLC index. Additionally, CSF κ-FLC values were significantly higher in patients with a positive IgG index compared to those with a negative IgG index. On the other hand, patients with type 2 (+) OCBs had higher κ-FLC index values than those with negative OCBs. CONCLUSIONS:The κ-FLC index may serve as a valuable tool for identifying OCB-negative patients with a high likelihood of MS, offering a practical and accessible alternative for diagnostic evaluation.
OBJECTIVES:This study aimed to: 1) evaluate the macrostructure of sleep and identify the presence of sleep disorders such as hypersomnia, fatigue, apnea risk, and restless legs syndrome (RLS) in neuromyelitis optica spectrum disorder (NMOSD) patients, using both questionnaires and quantitative tests; 2) assess the correlation between the data from these questionnaires and quantitative tests in NMOSD patients, and predict which patients may require further investigation. METHODS:The study population comprised 26 consecutive NMOSD patients, along with a control group of 20 healthy volunteers. Polysomnography (PSG) and the Multiple Sleep Latency Test (MSLT) were conducted, along with the administration of various questionnaires, including the Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepinesss Scale (ESS), STOP-Bang scale, RLS diagnostic questionnaire, RLS Severity Scale, and the Beck Depression Inventory (BDI). These assessments were performed prospectively to evaluate sleep quality, daytime sleepiness, the detection of obstructive sleep apnea syndrome (OSAS), the presence of RLS, the severity of RLS, and the presence of depressive symptoms. RESULTS:An increase in the NREM1 ratio was observed in NMOSD patients compared to healthy controls, with higher values for total apnea hypopnea index (AHI), REM AHI, and NREM AHI, while the minimum O2 saturation was lower. However, no significant differences were observed between the groups regarding sleep efficiency, periodic legs movement (PLM) index, arousal index, sleep latency, and REM latency. According to the MSLT data analysis, we found that sleep latency was shorter, and hypersomnia/narcolepsy occurred more frequently. There was no significant difference in the STOP-Bang score between the two groups. The ESS score, PSQI score, presence of RLS, and body mass index (BDI) score were significantly higher in the patient group. CONCLUSION:Our findings suggest that the macrostructure of sleep is significantly impacted in NMOSD patients, with a higher prevalence of OSAS, hypersomnia/narcolepsy, and RLS. To enhance the quality of life in these patients, it is crucial to investigate sleep disorders early using qualitative methods and to implement appropriate treatments at an early stage.
BACKGROUND:Azathioprine (AZA) and rituximab (RTX) are frequently used drugs in the treatment of Myelin Oligodendrocyte Glycoprotein Associated Disease (MOGAD). OBJECTIVES:The aim of this study was to evaluate the efficacy and safety data of AZA and RTX treatments in MOGAD. METHODS:Patients diagnosed according to the 2023 MOGAD diagnostic criteria and receiving AZA or RTX treatment were included in the study. RESULTS:In 142 patients included in the study, the female/male value was 1.2. The rate of OCB positivity in MOGAD patients was 22.6 %. Patients on RTX had higher EDSS values than patients on AZA. However, the RTX group demonstrated a more pronounced improvement in disability, reflected by a greater negative trend in the ΔEDSS values. The attack-free rate was 78 % in the RTX group and 68 % in the AZA group during their treatment period. Both groups had no difference in the time of the first attack. The main factor affecting the time to first attack was having a higher EDSS at the time of treatment initiation. The survival analysis found that EDSS scores improved significantly in patients treated with RTX. CONCLUSION:Although survival analyses for both treatments appear to be similar, using RTX provides better EDSS scores.
This study aimed to evaluate adherence to disease-modifying therapies (DMTs) among patients with multiple sclerosis (MS) and to identify factors influencing compliance, based on perceptions and preferences of both patients and neurologists. Questionnaires were designed by a team of experts, including MS specialists, psychologists, and statisticians, to capture data on treatment adherence and related factors. A total of 1021 MS patients and their neurologists participated. Patients' adherence to oral, injectable, and infusion DMTs was assessed alongside demographic and disease-related characteristics. The study included 1021 MS patients with a mean age of 35.69 ± 9.07 years. Infusion therapies demonstrated the highest adherence rates (96.6
Introduction:Neuromyelitis Optica (NMO) is an inflammatory disorder affecting the central nervous system, notably the optic nerve and spinal cord. Seropositive NMO is marked by serum IgG antibodies against aquaporin-4 (AQP4). The accurate identification of AQP4-IgG is crucial for distinguishing NMO from other demyelinating diseases of the central nervous system. However, traditional diagnostic assays have limitations in sensitivity and specificity. Here, we introduce our in-house flow cytometry live cell-based assay (FC-LCBA) for detecting AQP4 antibodies with enhanced sensitivity and specificity. Our objective is to report the accuracy and compare the efficacy of our newly developed in-house FC-LCBA against the commercial cell-based indirect immunofluorescence assay (IIFA) in detecting AQP4 antibodies. Methods:This single-blind study was approved by the ethical committee and involved 101 serum samples. Twenty-five samples (including retests) from 17 patients evaluated in the NMO spectrum who had at least one positive cell-based IIFA test during the diagnosis or follow-up are tested in parallel with our in-house FC-LCBA and cell-based IIFA. In addition, 36 serum samples from myelin oligodendrocyte glycoprotein-associated disease (MOGAD) patients and 40 serum samples from healthy subjects are also referred for specificity analysis. Results:Our in-house FC-LCBA displayed superior sensitivity, detecting positive results even when the cell-based IIFA yielded negative results in patients under immunosuppressive treatments. Additionally, FC-LCBA exhibited high specificity for NMO, showing negligible antibody levels in patients with MOGAD diagnosis and healthy individuals. The assay's stability was confirmed through consistent results in retests. Conclusion:Our in-house FC-LCBA emerges as a promising diagnostic tool for detecting AQP4 antibodies, offering improved sensitivity, specificity, and reliability, instilling confidence in its potential.
Objective: To evaluate sociodemographic profile, clinical characteristics, disability and treatment status of multiple sclerosis (MS) patients in Turkey with respect to patient perspectives and expectations. Methods: A total of 2,176 MS patients participated in this cross-sectional questionnaire survey including items on sociodemographic, disease and treatment characteristics, daily life and perspectives and expectations. Results: Mean (SD) patient age was 36.4(9.4) years and 76.3% of patients were females. The numbness/weakness in the extremities (57.3%) was the most common presenting symptom. Overall, 56.8% reported treatment switch (due to attacks in 47.3%), while 22.2% reported physical disability and 39.7% reported work-related problems. Males had higher rate of MS-related physical disability (33.0% vs. 19.0%, p<0.001) than females. Use of an assistive device was a more common in patients with longer disease duration (>= 15 years; 39.0%) and in those under IV treatment (64.0%). Nearly half of patients reported significant concerns related to uncertainty of the future and impaired quality of life as well as lack of hope for future improvement. The majority of patients reported that they would prefer less frequent SC injection dosing and 43.3% reported preference for monthly high-efficacy SC injection. Conclusion: This nationwide questionnaire-based study in Turkish MS patients revealed the altered disability status with respect to sociodemographic profile, and altered treatment expectations specific to the route of administration, in addition to significant concerns regarding the uncertainty of the future, impaired quality of life and lack of hope for future improvement in nearly half of patients.
Background:Optic neuritis, myelitis, and neuromyelitis optica spectrum disorder (NMOSD) have been associated with antibodies against myelin oligodendrocyte glycoprotein-immunoglobulin G (anti-MOG-IgG). Furthermore, patients with radiological and demographic features atypical for multiple sclerosis (MS) with optic neuritis and myelitis also demonstrate antibodies against aquaporin-4 and anti-MOG-IgG. However, data on the diagnosis, treatment, follow-up, and prognosis in patients with anti-MOG-IgG are limited. Aims:To evaluate the clinical, radiological, and demographic characteristics of patients with anti-MOG-IgG. Study Design:Multicenter, retrospective, observational study. Methods:Patients with blood samples demonstrating anti-MOG-IgG that had been evaluated at the Neuroimmunology laboratory at Ondokuz Mayıs University’s Faculty of Medicine were included in the study. Results:Of the 104 patients with anti-MOG-IgG, 56.7% were women and 43.3% were men. Approximately 2.4% of the patients were diagnosed with MS, 15.8% with acute disseminated encephalomyelitis (ADEM), 39.4% with NMOSD, 31.3% with isolated optic neuritis, and 11.1% with isolated myelitis. Approximately 53.1% of patients with spinal involvement at clinical onset demonstrated a clinical course of NMOSD. Thereafter, 8.8% of these patients demonstrated a clinical course similar to MS and ADEM, and 28.1% demonstrated a clinical course of isolated myelitis. The response to acute attack treatment was lower and the disability was higher in patients aged > 40 years than patients aged < 40 years at clinical onset. Oligoclonal band was detected in 15.5% of the patients. Conclusion:For patients with NMOSD and without anti-NMO antibodies, the diagnosis is supported by the presence of anti-MOG-IgG. Furthermore, advanced age at clinical onset, Expanded Disability Status Scale (EDSS) score at clinical onset, spinal cord involvement, and number of attacks may be negative prognostic factors in patients with anti-MOG-IgG.
ObjectivesMultiple sclerosis (MS), which is known as a young-adult age disease, is called late-onset MS (LOMS) when it occurs at the age of 50 and older. In our study, we aimed to analyse the clinical and demographic characteristics, comorbidities, diagnostic and treatment challenges and prognosis of LOMS.MethodsIn a retrospective analysis of 136 patients diagnosed with multiple sclerosis (MS) after the age of 50, based on the 2017 McDonald criteria, and who were under observation in eight distinct MS centers across Turkey; demographic information, clinical characteristics of the disease, oligoclonal band (OCB) status, initial and current Expanded Disability Status Scale (EDSS) values, administered treatments, and the existence of spinal lesions on magnetic resonance imaging (MRI) were investigated.ResultsThe mean age of the 136 patients was 60.96±6.42 years (51–79), the mean age at diagnosis was 54.94±4.30 years, and 89 (65.4 %) of the patients were female. Most of the cases, 61.1 % (83) had at least one comorbidity. In 97 patients who underwent lumbar puncture (LP), OCB positivity was observed in 63.6 %. In 114 patients (83.8 %), spinal lesions were detected on MRI. Eighty-seven patients had relapsing-remitting MS (RRMS) (64 %), 27 patients had secondary progressive MS (SPMS) (19.9 %), and 22 patients had primary progressive MS (PPMS) (16.2 %). The mean EDSS at the time of diagnosis was 2.44±1.46, and the mean current EDSS was 3.15±2.14.ConclusionsIn LOMS patients, the rates of delay in the diagnostic process, treatment disruption and progressive disease are higher than in the general MS population. The high rates of LP applying and OCB positivity of this study may indicate the habit of looking for clear evidences in advanged age in our country. This situation and comorbidities may cause a delay in diagnosis and eliminates the window of opportunity for early diagnosis. Although the high number of spinal lesions is a known marker for progressive disease, it is an issue that needs to be discussed whether the increased frequency of progressive course at older ages is due to the nature of the disease or immune aging itself.