Clinical and demographic characteristics of patients with NMOSD: a longitudinal retrospective analysis of a Slovak cohort of 63 patients.

BACKGROUND: Neuromyelitis optica spectrum disorders (NMOSD) are autoantibody-mediated inflammatory diseases of the central nervous system predominantly targeting optic nerves and the spinal cord. Two distinct phenotypes are recognized based on the presence of serum aquaporin-4 (AQP4-IgG) antibodies. However, contrasting clinical course patterns have been identified between AQP4-IgG-positive and AQP4-IgG-negative patients. AIMS: This study aimed to present demographic and clinical characteristics of patients with NMOSD in Slovakia and to evaluate the significance of differences between AQP4-IgG-seropositive and AQP4-IgG-seronegative patients. METHODS: We performed a longitudinal multi-centric retrospective study and analysed the clinical and demographic characteristics of a cohort of 63 Slovak NMOSD patients. RESULTS: Eighty-six percent of patients were women, and ninety-four patients were Caucasian. The median age at diagnosis was 37 years. The most frequent initial manifestations were optic neuritis (47.6% of patients) and transverse myelitis (39.7% of patients). The median EDSS score deteriorated from the initial 3.0 to 4.0 at the last follow-up. Sixty-eight percent of patients were AQP4-IgG positive; 10% of patients were MOG-IgG positive; 27% of patients had no NMOSD-specific antibodies detected. There was a higher prevalence of autoimmune thyroiditis among AQP4-IgG-positive patients (25.6%) compared to AQP4-IgG-negative patients (0%) (p = 0.01). CONCLUSION: This study provides a detailed overview of the clinical and demographic characteristics of NMOSD based on a retrospective analysis of a Slovak cohort of 63 NMOSD patients and extends information provided by similar recently published studies. The most important finding is that there is a high prevalence of autoimmune thyroiditis among AQP4-IgG-negative patients (25%).

Concomitant occurrence of Wernicke's encephalopathy and sarcopenia due to vitamin D depletion in patients with alcohol use disorder: a case report.

Individuals with alcohol use disorder frequently suffer from vitamin D deficiency, in addition to deficiencies in vitamins B12, folic acid and B1. This is due to inadequate dietary intake and behavioural changes. Each of these deficiencies results in different clinical symptoms. Subacute spinal cord degeneration, together with radicular and sensorimotor peripheral neuropathy, arises from B12 vitamin and folic acid deficiencies. B1 vitamin deficiency leads to Wernicke's encephalopathy, which can include the classical triad of symptoms (i.e. cognitive changes, ataxia and ophthalmoplegia). Sarcopenia is a consequence of a long-term deficiency of vitamin D. This current case report describes a 43-year-old female patient with alcohol use disorder who complained of dizziness, postural disturbance and episodes of intermittent paraesthesia. She was subsequently shown to have concomitant Wernicke's encephalopathy and sarcopenia due to vitamin D deficiency. This case report presents the diagnostic process undertaken to exclude conditions related to ataxia and paraparesis other than vitamins D and B1 deficiencies. It also emphasizes the importance of concomitant replacement of the depleted vitamins because the vitamin deficiency may occur simultaneously, which causes the accompanying manifestations of several clinical syndromes.

Annual Plasma Neurofilament Dynamics Is a Sensitive Biomarker of Disease Activity in Patients with Multiple Sclerosis.

Background and Objectives: Neurofilament light chain (NfL) is a sensitive biomarker of neuroaxonal damage. This study aimed to assess the relationship between the annual change in plasma NfL (pNfL) and disease activity in the past year, as defined by the concept no evidence of disease activity (NEDA) in a cohort of multiple sclerosis (MS) patients. Materials and Methods: Levels of pNfL (SIMOA) were examined in 141 MS patients and analyzed in relationship to the NEDA-3 status (absence of relapse, disability worsening, and MRI activity) and NEDA-4 (NEDA-3 extended by brain volume loss ≤ 0.4%) during the last 12 months. Patients were divided into two groups: annual pNfL change with an increase of less than 10% (group 1), and pNfL increases of more than 10% (group 2). Results: The mean age of the study participants (n = 141, 61% females) was 42.33 years (SD, 10.17), and the median disability score was 4.0 (3.5-5.0). The ROC analysis showed that a pNfL annual change ≥ 10% correlates with the absence of the NEDA-3 status (p < 0.001; AUC: 0.92), and the absence of the NEDA-4 status (p < 0.001; AUC: 0.839). Conclusions: Annual plasma NfL increases of more than 10% appear to be a useful tool for assessing disease activity in treated MS patients.

Lower-limb progressive paraparesis management and diagnosis overview in a pregnant woman with vertebral haemangioma.

Vertebral haemangioma is a benign vascular tumour mostly seen in the thoracic region of the spine. Spinal haemangiomas are usually asymptomatic and are discovered incidentally. In a few patients, however, aggressive vertebral haemangiomas can cause local pain, radicular pain or neurologic deficits, which result from neural compression. The aetiology of the origin is unclear and is probably multifactorial. Hormonal and biological changes in pregnant women can lead to accelerated vascular growth of haemangioma. In our report, we present the case of a pregnant patient who was diagnosed with an aggressive vertebral haemangioma that further led to progressive paraparesis. We had to take the fact that she was pregnant into account in the diagnostic procedure, in the choice of examination method and also in the method of therapy. The goal of this case report is threefold: (1) provide an overview of the possible methods of management, specifically imaging, which will aid in diagnosis and based on that, (2) determining the appropriate therapy and (3) review the risks and benefits of each will be presented when choosing individual approaches.

Associations of optical coherence tomography with disability and brain MRI volumetry in patients with multiple sclerosis.

AIM OF THE STUDY: To investigate in a cross-sectional study the correlations of optical coherence tomography (OCT) with clinical and magnetic resonance imaging (MRI) parameters in multiple sclerosis (MS) patients. MATERIAL AND METHODS: OCT parameters include the peripapillary retinal nerve fibre layer (pRNFL) and ganglion cell complex (GCC). Brain magnetic resonance volumetry (T2- and T1- lesions volume, whole brain volume and grey matter volume) was evaluated using the Icobrain program. Clinical data was compared according to the history of optic neuritis (HON). Correlations were determined between OCT parameters and demographic (age, gender), clinical (disease duration, Expanded Disability Status Scale score [EDSS]), and MRI data. RESULTS: Out of 83 recruited people with MS, 27 had HON. The mean age of 75 patients with non-ON eyes was 42.08 ± 10.36 years, and 70.67% of the sample were females. Significant correlations were found between pRNFL and disability, along with several brain MRI-volumetry variables (Fluid-attenuated Inversion Recovery lesions volume [FLAIR]; T1-hypointense lesions volume; T1-lesions volume change; T1-volume lesions enlarging; whole brain volume; whole brain volume normative percentile; and volume of periventricular lesions). Multivariable linear regression analysis showed that age, pRNFL and GCC were significantly associated with T1-hypointense lesions volume change (the model explained 24% of the overall variance of the dependent variable). CONCLUSIONS: The pRFNL value correlates with disability and brain MRI-volumetric parameters in MS patients, serving as a useful neurodegeneration and inflammation surrogate marker.

Cognitive Event-Related Potentials-The P300 Wave Is a Prognostic Factor of Long-Term Disability Progression in Patients With Multiple Sclerosis.

PURPOSE: Multiple sclerosis (MS) is a chronic disorder with a variable course. The aim of our study was to find out whether cognitive event-related potentials are prognostic for patient disability at the 15-year follow-up. METHODS: In the observed cohort of patients with MS, we examined the event-related potentials at baseline (2003). Functional status (Expanded Disability Status Scale score) was then assessed 15 years later, and the prognostic model was developed using binary logistic regression analysis. The independent variables included demographic (age, sex, and education), clinical (disability in 2003), radiologic (MRI lesion load), and event-related potentials parameters. The prognostic accuracy of the proposed model was evaluated by calculating the area under the receiver-operating characteristics curve. RESULTS: The study sample consisted of 85 patients with MS. The mean age was 35.5 (SD, 11.2) years, and the median disability score was 3.0 (1-7) in 2003 and 5.0 (1.5-9.5) in 2018. The significant prognostic factors of poor Expanded Disability Status Scale are higher baseline Expanded Disability Status Scale, longer MS duration, and prolonged P300 latency. The sensitivity and specificity of the cutoff at 5.0 for the disability score were 94% and 89%, respectively, with the area under the receiver-operating characteristics curve 0.94 (95% confidence interval, 0.889-0.984; P < 0.001). CONCLUSIONS: The results show that out of event-related potentials, the P300 wave latency is a prognostic of long-term disability progression in patients with MS.

Incidence and prevalence of neuromyelitis optica spectrum disorders in Slovakia.

OBJECTIVE: : Neuromyelitis optica spectrum disorders (NMOSDs) are a group of rare, inflammatory, demyelinating diseases that affect the central nervous system. Neither the incidence nor the prevalence of NMOSD has been determined in Slovakia thus far. The aim of this study was to determine both the incidence and the prevalence of NMOSD in Slovakia using the 2015 International Panel of NMOSD diagnosis (IPND) criteria. METHODS: : We performed a population-based study in Slovakia to estimate both the incidence and the prevalence of NMOSD during the period from 1 January 2006 through 31 December 2019. NMOSD cases were reported from multiple sources and the diagnosis was subsequently verified using the IPND criteria by a joint commitee of three neurologists. The prevalence is reported as number of cases per 100,000 inhabitans and the incidence as number of new cases per 1,000,000 person-years. Age-adjusted rates to the WHO standard population 2005-2025 were also calculated. RESULTS: : We identified 63 NMOSD cases. The crude point-prevalence rate was 1.37 (95% CI 1.03-1.71) per 100,000 inhabitants. The crude indidence rate was 0.88 (95% CI 0.65-1.12) per 1,000,000 person-years. The age-adjusted point-prevalence rate was 1.42 (95% CI 1.07-1.84) per 100,000 persons and the age-adjusted incidence rate was 0.96 (95% CI 0.72-1.25) per 1,000,000 person-years. CONCLUSION: : The NMOSD epidemiological situation in Slovakia is comparable to those reported from other Caucasian populations.

Associations between neurofilament light chain levels, disease activity and brain atrophy in progressive multiple sclerosis.

BACKGROUND: Neurofilament light chain is a promising biomarker of disease activity and treatment response in relapsing-remitting multiple sclerosis (MS). Its role in progressive MS is less clear. AIM: The aim of the study was to assess the relationship between plasma neurofilament light chain (pNfL) and disease activity as defined by the concept NEDA-3 (No Evident Disease Activity), and brain volumetry, in a cohort of patients with the progressive disease form (PMS). METHODS: Levels of pNfL (SIMOA technology) were examined in 52 PMS patients and analysed in relationship to NEDA-3 status and annual brain volume loss (BVL) during the last 12 months. The statistical model was developed using logistic regression analysis, including demographic, clinical and magnetic resonance imaging (MRI) data as independent variables. Dependent variables were NEDA-3 status and BVL. RESULTS: The mean age of the study participants (n=52, 50% females) was 45.85 (SD, 9.82) and the median disability score was 5.0 (IQR: 5.0-5.5). ROC analysis showed that pNfL predicts NEDA-3 (the sensitivity and specificity of the model were 77.8% and 87.6%, respectively, P<0.001) and abnormal BVL (the sensitivity and specificity were 96.6% and 68.2%, respectively, P<0.001). CONCLUSIONS: The results show that pNfL levels are a useful biomarker of disease activity determined by NEDA-3 status, including brain MRI-volumetry, in patients with the progressive form of MS.

Psychological well-being in people with multiple sclerosis and its association with illness perception and self-esteem.

BACKGROUND: Illness perception and self-esteem were found to improve adjustment to disease in many chronic conditions. However, so far, little is known about the role of illness-appraisal and self-appraisal factors in psychological well-being in people with multiple sclerosis (MS). Thus, we aimed to assess the association between illness perception, self-esteem and psychological well-being in people with MS while controlling for sociodemographic variables, clinical variables, and sleep-related problems. METHODS: The General Health Questionnaire-28, the Brief Illness Perception Questionnaire, the Rosenberg Scale of Self-esteem, the Expanded Disability Status Scale, the Pittsburgh Sleep Quality Index, and the Multidimensional Fatigue Inventory were used. Multiple linear regressions and mediation analyses were utilized to analyse the data. RESULTS: Positive illness perception (p<0.001) and self-esteem (p<0.05) were significantly associated with psychological well-being in MS. Low income (p<0.05) and sleep-related problems (p<0.001) were significantly associated with lower level of psychological well-being in people with MS. Positive illness perception and self-esteem were able to diminish the association between low income (p>0.05), poor sleep quality (p<0.01), fatigue (p>0.05), and low level of psychological well-being. Self-esteem also mediated the association between illness perception and psychological well-being. DISCUSSION: People with MS may benefit from psychological support aimed at promoting self-esteem and diminishing negative illness perception.

Self-management, self-esteem and their associations with psychological well-being in people with multiple sclerosis.

BACKGROUND: Optimal self-management seem to be protective factor of health-related quality of life and psychological well-being in many chronic conditions. However, the results in people with multiple sclerosis (MS) are still inconclusive. Thus, the aim of this study is to assess the associations between self-management, self-esteem and psychological well-being in people with MS when controlled for sociodemographic and clinical variables. METHODS: A total of 165 people with MS filled in The Multiple Sclerosis Self-Management Scale, Rosenberg Self-Esteem scale, and General Health Questionnaire-28, to assess main variables under study. Functional status was measured by Kurtzke disability Status Scale. RESULTS: We found significant associations between self-esteem and somatic symptoms, anxiety/insomnia, social dysfunction and severe depression. Explained variance of the models ranged from 16% to 38% for somatic symptoms and severe depression, respectively. Self-management significantly contributed to the explained variance in all models sans GHQ social dysfunction. Self-esteem was significant contributor to overall variance in all models. DISCUSSION: According to our results, self-management and self-esteem were found to be associated with multiple domains of psychological well-being. These findings may be used in neurological practice, to help people with MS who report psychological distress in one or more domains.

Neurofilament Light Chain Levels Are Associated with Disease Activity Determined by No Evident Disease Activity in Multiple Sclerosis Patients.

INTRODUCTION: There is a need for blood biomarkers of disease activity in multiple sclerosis (MS). The aim of the study was to assess the relationship between plasma neurofilament light chain (pNfL) and disease activity as defined by the concept three-domain no evident disease activity (NEDA-3). METHODS: Levels of pNfL (SIMOA) were examined in 159 MS patients and analyzed in relationship to NEDA-3 status (absence of relapse, disability score worsening, and brain magnetic resonance activity) during the last 12 months. The accuracy of the proposed model was evaluated by calculating the area under the receiver operating characteristics (ROC) curve. From the pNfL cutoff, we evaluated the NEDA-NfL status (no relapse, no Expanded Disability Status Scale [EDSS] worsening, and pNfL below the cutoff value). RESULTS: Levels of pNfL were significantly higher in MS patients than in healthy controls (p <  0.001). From a total of 159 patients, 80 (50.3%) achieved NEDA-3 status, while 79 (49.7%) patients showed evident disease activity (EDA) status. pNfL were significantly lower in the NEDA-3 group than in the EDA group (pNfL mean 7.06 pg/mL [standard deviation (SD) 2.37] vs. pNfL mean 13.04 pg/mL [SD 7.07]) (p < 0.001). ROC analysis showed that pNfL predicts NEDA-3 status (sensitivity and specificity were 80.5 and 72.7%, respectively, p < 0.001), and NEDA-NfL predicts NEDA-3 status (sensitivity and specificity were 97.1 and 82.9%, respectively, p < 0.001). CONCLUSION: The results show that pNfL levels are a useful biomarker of disease activity determined by NEDA status in patients with MS and could be an alternative to brain magnetic resonance investigation.

Plasma neurofilament light chain levels are predictors of disease activity in multiple sclerosis as measured by four-domain NEDA status, including brain volume loss.

BACKGROUND: The research is focused on sensitive biomarkers in multiple sclerosis (MS). OBJECTIVE: The aim of the study was to assess the relationship between plasma neurofilament light chain (pNfL) and disease activity as defined by the concept NEDA (no evident disease activity), including brain volumetry, in a cohort of MS patients treated with disease-modifying treatment (DMT). METHODS: Levels of pNfL (Single Molecule Array (SIMOA) technology) were examined in 95 RRMS (relapsing-remitting multiple sclerosis) patients and analyzed in relationship to NEDA-3 status and NEDA-BVL (brain volume loss; NEDA-3 extended by brain volumetry) during the last 12 months. The statistical model was developed using logistic regression analysis, including the independent variables: demographic, clinical, and magnetic resonance imaging (MRI) data. Dependent variables were NEDA-3 and NEDA-BVL status. RESULTS: The mean age of the study participants (n = 95, 62% females) was 37.85 years (standard deviation (SD) = 9.62) and the median disability score was 3.5 (2.5-4.1). Receiver operating characteristics (ROC) analysis showed that pNfL predicts NEDA-3 (the sensitivity and specificity of the model were 92% and 78%, respectively, p < 0.001) and NEDA-BVL status (the sensitivity and specificity were 80% and 65%, respectively, p < 0.001). CONCLUSION: The results show that pNfL levels are a useful biomarker of disease activity determined by NEDA-BVL status, including brain MRI-volumetry in patients with RRMS.