Purpose
To evaluate the effect of vitamin D on severity of restless legs syndrome in patients with idiopathic restless legs syndrome (RLS).
Methods
Patients with idiopathic RLS completed ...questionnaires including the International Restless Legs Severity Scale (IRLSS) and were evaluated for vitamin D deficiency. Patients with deficiency of vitamin D were treated with 50,000 units per week for 2 months. At the end of the 2 months, vitamin D levels were re-measured and disease severity was re-evaluated in patients who reached adequate vitamin D level. Subgroups of IRLSS questionnaire were also analyzed.
Results
Of 35 patients enrolled, 21 (60%) had vitamin D deficiency and received vitamin D therapy. In 2 patients, vitamin D levels did not rise to sufficient levels with supplementation and these 2 patients were excluded from analysis. The remaining 19 patients showed vitamin D levels increased from 13.2 ± 4.0 to 42.8 ± 9.6 ng/mL while IRLSS improved from 24.9 ± 5.1 to 21.1 ± 2.9 points (p <0.001). Selected subscores of the IRLSS were also improved including symptom severity (p <0.001), impact on sleep (p <0.001), symptom measures (p =0.002), and disease impact measures (p <0.001). There were trends toward improvement in subscores of frequency (p =0.11) and mood (p =0.051).
Conclusions
The findings suggest that vitamin D levels should be evaluated in patients with RLS and if vitamin D deficiency is revealed, consideration should be given to replacement therapy.u
In recent years, there has been increasing interest in the development of telediagnosis and telemonitoring systems for Parkinson’s disease (PD) based on measuring the motor system disorders caused by ...the disease. As approximately 90% percent of PD patients exhibit some form of vocal disorders in the earlier stages of the disease, the recent PD telediagnosis studies focus on the detection of the vocal impairments from sustained vowel phonations or running speech of the subjects. In these studies, various speech signal processing algorithms have been used to extract clinically useful information for PD assessment, and the calculated features were fed to learning algorithms to construct reliable decision support systems. In this study, we apply, to the best of our knowledge for the first time, the tunable Q-factor wavelet transform (TQWT) to the voice signals of PD patients for feature extraction, which has higher frequency resolution than the classical discrete wavelet transform. We compare the effectiveness of TQWT with the state-of-the-art feature extraction methods used in diagnosis of PD from vocal disorders. For this purpose, we have collected the voice recordings of 252 subjects in the context of this study and extracted multiple feature subsets from the voice recordings. The feature subsets are fed to multiple classifiers and the predictions of the classifiers are combined with ensemble learning approaches. The results show that TQWT performs better or comparable to the state-of-the-art speech signal processing techniques used in PD classification. We also find that Mel-frequency cepstral and the tunable-Q wavelet coefficients, which give the highest accuracies, contain complementary information in PD classification problem resulting in an improved system when combined using a filter feature selection technique.
•The TQWT is applied to the voice signals of Parkinson’s Disease (PD) patients.•The effectiveness of TQWT is compared with the state-of-the-art feature extraction methods.•TQWT performed better or comparable to the state-of-the-art techniques in PD classification.•MFCC and the TQW coefficients contain complementary information in PD classification problem.
Verbal fluency (VF) evaluates language and cognitive abilities. This study compared VF in Relapsing-Remitting Multiple Sclerosis (RRMS) and healthy controls (HC), examining variables including ...correct responses (CR), mean cluster size (MCS), switches (S), and fluency difference score (FDS). RRMS participants were subgrouped by Expanded Disability Status Scale (EDSS), to explore the relationship between MS severity and VF. Twenty-four RRMS participants and matched HCs underwent Mini-Mental State Exam and VF Test. Statistical analysis compared VF between RRMS subgroups based on severity levels, and in HC. RRMS significantly impacted the CR, and S (CR
p = 0.01, S
p = 0.002; CR
=0.002, S
p = 0.002), while there was no significant difference in FDS between RRMS groups (p = 0.9). No significant relationship was found between EDSS scores, and VF subtests (CR
p = 0.061, MCS
p = 0.46, S
p = 0.051, CR
p = 0.521, MCS
p = 0.966, S
p = 0.599). In RRMS, our results demonstrate impairments in all VF parameters except the MCS
, and FDS. This study suggests that intact MCS
may reflect preserved verbal memory and word recall, while significant switching differences may indicate impaired cognitive flexibility. Similar FDS to those of HC suggest that no performance discrepancy in subtests in RRMS. Intact MCS might be a distinctive pattern in the early clinical stage of MS.
To report the 5-year risk and to identify risk factors for the development of a seminal acute or progressive clinical event in a multi-national cohort of asymptomatic subjects meeting 2009 RIS ...Criteria.
Retrospectively identified RIS subjects from 22 databases within 5 countries were evaluated. Time to the first clinical event related to demyelination (acute or 12-month progression of neurological deficits) was compared across different groups by univariate and multivariate analyses utilizing a Cox regression model.
Data were available in 451 RIS subjects (F: 354 (78.5%)). The mean age at from the time of the first brain MRI revealing anomalies suggestive of MS was 37.2 years (y) (median: 37.1 y, range: 11-74 y) with mean clinical follow-up time of 4.4 y (median: 2.8 y, range: 0.01-21.1 y). Clinical events were identified in 34% (standard error=3%) of individuals within a 5-year period from the first brain MRI study. Of those who developed symptoms, 9.6% fulfilled criteria for primary progressive MS. In the multivariate model, age hazard ratio (HR): 0.98 (95% CI: 0.96-0.99); p=0.03, sex (male) HR: 1.93 (1.24-2.99); p=0.004, and lesions within the cervical or thoracic spinal cord HR: 3.08 (2.06-4.62); p=<0.001 were identified as significant predictors for the development of a first clinical event.
These data provide supportive evidence that a meaningful number of RIS subjects evolve to a first clinical symptom. An age <37 y, male sex, and spinal cord involvement appear to be the most important independent predictors of symptom onset.
Background
The effectiveness of onabotulinumtoxinA (BTX‐A) has been established in primary trigeminal neuralgia (TN). However, to the best of our knowledge, the efficacy of BTX‐A in secondary TN has ...not yet been studied.
Objective
This study aimed to investigate the efficacy of BTX‐A treatment in patients with multiple sclerosis–related trigeminal neuralgia (TN‐MS) and compare the efficacy of BTX‐A treatment between patients with primary trigeminal neuralgia (TN‐P) and patients with TN‐MS.
Methods
This was a retrospective medical record–review study. Demographic and clinical features and severity and frequency of pain before and 2 weeks after the BTX‐A administration were extracted from the patient files. BTX‐A was injected into the painful area subcutaneously and/or submucosally. BTX‐A injections were performed by the same physician using the same methods. A reduction in severity and/or frequency of pain ≥50% was considered therapeutic efficacy.
Results
Fifty‐three patients were included in this study. We classified 22 (42%) as TN‐P and 31 (58%) as TN‐MS. Treatment with BTX‐A was effective in 16 of 31 (52%) patients with TN‐MS and 10 of 22 (45%) with TN‐P. BTX‐A treatment was less effective in patients with a history of interventional treatments and more effective in patients with concomitant continuous pain (p = 0.007; odds ratio OR: 0.020–0.53 and p = 0.047; OR: 0.046–0.98, respectively).
Conclusion
The BTX‐A treatment was found to be effective in at least half of our cohort with TN‐MS. Concomitant continuous pain and history of interventional treatments to the trigeminal nerve or ganglion might be predictive factors for the efficacy of BTX‐A treatment.
Objective
SARS-CoV-2 infection commonly affects both the central and peripheral nervous systems, resulting in a variety of neurological and psychiatric symptoms. Whereas the effects of SARS-CoV-2 on ...neuronal structures in the short and long-term are still controversial, neurological involvement secondary to SARS-CoV- 2 is heterogeneous in terms of clinical presentation, treatment response, and prognosis.
Method
A case of autoimmune encephalitis developing after SARS-CoV-2 is described in this article.
Results
The patient was admitted to the clinic with classical signs of catatonia and encephalopathy. The emergence of neuropsychiatric problems after the relief of SARS-CoV-2 symptoms suggests that symptoms were primarily related to immune processes. This patient demonstrated a good clinical response to symptomatic catatonia treatment and immune-modulatory agents and recovered both physically and cognitively without sequelae.
Conclusion
SARS-CoV-2 infection may involve encephalitic involvement and psychological symptoms (including catatonia) after the infection by triggering autoimmune pathways.
Predicting the long-term disability outcomes of multiple sclerosis (MS) cases is challenging.
We prospectively analysed our previous MS cohort with initial cerebrospinal fluid (CSF) proteomics data ...to reveal disability markers after 8.2±2.2 years of follow-up.
Patients with regular follow-up visits were assigned into two groups: those with an age-related MS severity (ARMSS) score ≥5 (unfavourable course group, N = 27) and ARMSS score <5 (favourable course group, N = 67). A machine learning-based algorithm was applied to reveal candidate poor prognosis-associated initial CSF proteins, which were measured in an independent MS cohort (verification group, N = 40) by ELISA. Additionally, the correlation of initial clinical and radiological parameters with long-term disability was analysed.
CSF alpha-2-macroglobulin (P = 0.0015), apo-A1 (P = 0.0016), and haptoglobin (P = 0.0003) protein levels, as well as cerebral lesion load (>9 lesions) on magnetic resonance imaging, gait disturbance (P = 0.04), and bladder/bowel symptoms (P = 0.01) were significantly higher in the unfavourable course group than in the favourable course group. Optic nerve involvement evident on initial magnetic resonance imaging (P = 0.002) and optic neuritis (P = 0.01) were more frequent in the favourable course group.
The herein identified initial CSF protein levels, in addition to the clinical and radiological parameters at disease onset, have predictive value for long-term disability in MS cases.
The etiology may not be determined in patients with ataxia despite detailed evaluations. The aim of this study was to investigate the clinical and laboratory characteristics of a large cohort of ...patients with adult-onset ataxia of different etiologies, particularly, undetermined etiologies despite extensive clinical, genetic, laboratory, electrophysiological, and imaging investigations. The medical records of all patients diagnosed with ataxia of subacute-chronic onset between January 2011 and March 2021 were reviewed retrospectively. The records of patients with symptom onset after 16 years of age were included in the study. In all patients, clinical and demographic findings were noted. Etiologies were classified as acquired, hereditary, degenerative (multiple system atrophy-cerebellar, MSA-C), functional, and undetermined. During the study period, we determined 74 patients with ataxia and 59 (35 males) patients met the study criteria. The age range was 22–87 years. The etiologies were hereditary (
n
= 19), acquired (
n
= 14), MSA-C (
n
= 9), functional (
n
= 2), and undetermined (
n
= 15). The patients with hereditary etiologies and undetermined causes were significantly younger at admission and at symptom onset (
p
= 0.001 and
p
= 0.000). There was a significant delay until diagnosis in patients with hereditary etiologies compared to other etiologies. In acquired etiologies, axial findings (71.4%) were more prominent whereas extremity and axial findings were more common in patients with hereditary etiologies (83.3%,
p
= 0.030). There were systemic and radiological indicators such as hearing loss, juvenile cataract, or dentate hyperintensity in certain disorders. Hereditary etiologies are as common as acquired or degenerative etiologies in adults. However, they have an earlier onset and delayed diagnosis. Therefore, we should recognize the extracerebellar neurological, systemic, and neuroimaging findings.
Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies predominantly against the acetylcholine receptor (AChR). Specific T cell subsets are required for long-term antibody ...responses, and cytokines secreted mainly from CD4
T cells regulate B cell antibody production. The aim of this study was to assess the differences in the cytokine expressions of CD4
T cells in MG patients with AChR antibodies (AChR-MG) and the effect of immunosuppressive (IS) therapy on cytokine activity and to test these findings also in MG patients without detectable antibodies (SN-MG). Clinically diagnosed AChR-MG and SN-MG patients were included. The AChR-MG patients were grouped as IS-positive and -negative and compared with age- and sex-matched healthy controls. Peripheral blood mononuclear cells were used for
intracellular cytokine production, and subsets of CD4
T cells and circulating follicular helper T (cTfh) cells were detected phenotypically by the expression of the chemokine and the costimulatory receptors. Thymocytes obtained from patients who had thymectomy were also analyzed. IL-21, IL-4, IL-10, and IL-17A productions in CD4
T cells were increased in AChR-MG compared to those in healthy controls. IS treatment enhanced IL-10 and reduced IFN-γ production in AChR-MG patients compared to those in IS-negative patients. Increased IL-21 and IL-4 productions were also demonstrated in SN-MG patients. Among CD4
T cells, Th17 cells were increased in both disease subgroups. Treatment induced higher proportions of Th2 cells in AChR-MG patients. Both CXCR5
and CXCR5
CD4
T cells expressed higher programmed cell death protein 1 (PD-1) and inducible costimulatory (ICOS) in AChR-MG and SN-MG groups, mostly irrespective of the treatment. Based on chemokine receptors on CXCR5
PD-1
in CD4
T (cTfh) cells, in AChR-MG patients without treatment, the proportions of Tfh17 cells were higher than those in the treated group, whereas the Tfh1 cells were decreased compared with those in the controls. The relevance of CXCR5 and PD-1 in the pathogenesis of AChR-MG was also suggested by the increased presence of these molecules on mature CD4 single-positive thymocytes from the thymic samples. The study provides further evidence for the importance of IL-21, IL-17A, IL-4, and IL-10 in AChR-MG. Disease-related CD4
T cells are identified mainly as PD-1
or ICOS
with or without CXCR5, resembling cTfh cells in the circulation or probably in the thymus. AChR-MG and SN-MG seem to have some similar characteristics. IS treatment has distinctive effects on cytokine expression.
Ocrelizumab in pediatric multiple sclerosis Bibinoğlu Amirov, Ceren; Saltık, Sema; Yalçınkaya, Cengiz ...
European journal of paediatric neurology,
March 2023, 2023-Mar, 2023-03-00, 20230301, Letnik:
43
Journal Article
Recenzirano
Ocrelizumab is a recombinant humanized anti-CD20 monoclonal IgG1, approved by FDA and EMA for adult patients with multiple sclerosis (MS). The data on the efficacy and safety of Ocrelizumab for ...pediatric MS cases are limited.
Here, we describe pediatric relapsing-remitting MS (P-RRMS) cases who were treated with Ocrelizumab as a disease-modifying drug.
P-RRMS cases who were started Ocrelizumab below 18 years-of-age and followed-up >12 months with Ocrelizumab treatment were included. The primary end-points were annualized relapse rate (ARR) and magnetic resonance imaging (MRI) activity (new/enlarging T2 lesions and new gadolinium (Gd) enhancing lesions). The secondary end-points were the percentage of patients who remain relapse-free and/or free from Gd enhancing lesions, Expanded Disability Status Scale (EDSS) score, and the safety profile of Ocrelizumab.
Of 18 P-RRMS cases receiving Ocrelizumab, 10 patients fulfilled the inclusion criteria for our study. The median duration of follow-up under Ocrelizumab was 28,3 months (min: 15 months, max: 46 months). Mean ARR decreased from 2.01 (±0.71) to 0 during the follow-up of Ocrelizumab treatment (P < 0.0001). None of the patients had MRI activity during the treatment. Mean EDSS decreased from 1.75 (±1.09) to 1.20 (±0.63) from the initiation of Ocrelizumab to the last follow-up of the patients (P = 0.024). None of the patients had serious side effects, except one patient who experienced anaphylaxis.
Ocrelizumab can be considered a safe and effective treatment option in highly active P-RRMS.
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