Relationship Between Sleep-related Violence and NREM Parasomnia: A Case Report

Parasomnia constitutes an important group among the situations that can lead to sleep-related violence scene. Parasomnia attacks are characterized by complex motor behaviors of various degrees, violent behaviors may result in life-threatening and rarely lethal conditions for patients and their relatives. Here is presented a patient with right temporoparietal bone fracture, pneumocephalus and hemotympanum in right ear due to head trauma during a parasomnia attack. The diagnosis could be made by a detailed history taking and polysomnography only after many other investigations. In this context, we aimed to emphasize that not only nocturnal epilepsies, especially frontal lobe epilepsies, but also parasomnia attacks should be kept in mind in differential diagnosis of sleep-related violence

CD4(+) T cells of myasthenia gravis patients are characterized by ıncreased IL-21, IL-4, and IL-17A productions and higher presence of PD-1 and ICOS

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 ex vivo 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-gamma 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.Istanbul Universit

Polysomnographic Findings in A Late Onset Wilson’s Disease Patient

Scientific BACKGROUND: Wilson’s disease (WD) is an autosomal recessive degenerative disorder of copper metabolism. As a degenerative disease affecting many parts of CNS, WD has the potential to disrupt sleep regulatory mechanisms and to cause sleep disturbances like other neurodegenerative diseases. Sleep in WD has not been extensively studied before. OBJECTIVES: A late onset WD patient who applied to our out-patient clinic for sleep related problems has been extensively evaluated with clinical and laboratory measures. MATERIALS-METHODS: We performed three polysomnographic evaluations, one followed by continuous daytime recording. RESULTS: We diagnosed various abnormalities including breathing, circadian rhythm and movement disorders related to sleep. CONCLUSIONS: Sleep disorders in WD might be a major contributor to morbidity and mortalit

Determinants of Disability in Progressive Onset Multiple Sclerosis

Introduction: To describe the clinical and socio-demographic profiles of the patients with the progressive onset Multiple Sclerosis (MS) and to explore the determinants of disability

Ataxia in a Movement Disorders Outpatient Clinic: a Single-Center Experience in Turkey

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

Microstructural analysis of verbal fluency performance in relapsing-remitting multiple sclerosis based on the impact of disability level

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 (CRSF p = 0.01, SSF p = 0.002; CRPF=0.002, SPF 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 (CRSF p = 0.061, MCSSF p = 0.46, SSF p = 0.051, CRPF p = 0.521, MCSPF p = 0.966, SPF p = 0.599). In RRMS, our results demonstrate impairments in all VF parameters except the MCSSF+PF, and FDS. This study suggests that intact MCSSF+PF 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.</p

The efficacy of anti- IL-1 treatment in three patients with coexisting familial Mediterranean fever and multiple sclerosis

It has been reported that multiple sclerosis (MS) is more common among patients with familial Mediterranean fever (FMF) than expected in normal population. Also, an association between MEFV gene variants and disease severity in MS has been described. Excessive production of interleukin-1 (IL-1) beta is responsible for FMF pathogenesis, and anti-IL-1 treatment is an effective approach in colchicine-resistant FMF patients. Here, we describe three patients with FMF and coexisting MS who have been treated with anti-IL-1 agents. Our observations suggest that blocking IL-1 is a safe and an effective alternative for colchicine resistant FMF and probably also for associated MS