Cane sign: sciatic neuropathy appearance in magnetic resonance imaging

We present a patient with idiopathic sciatic neuropathy with demonstrative magnetic resonance imaging findings

Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

OBJECTIVE: To evaluate whether eculizumab helps patients with anti-acetylcholine receptor-positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension. METHODS: Patients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study. RESULTS: A total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1-4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected. CONCLUSION: Eculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population. CLINICALTRIALSGOV IDENTIFIER: REGAIN, NCT01997229; REGAIN open-label extension, NCT02301624. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo

Minimal Symptom Expression' in Patients With Acetylcholine Receptor Antibody-Positive Refractory Generalized Myasthenia Gravis Treated With Eculizumab

The efficacy and tolerability of eculizumab were assessed in REGAIN, a 26-week, phase 3, randomized, double-blind, placebo-controlled study in anti-acetylcholine receptor antibody-positive (AChR+) refractory generalized myasthenia gravis (gMG), and its open-label extension

The Activation of Rage and Nf-Kb in Nerve Biopsies of Patients with Axonal and Vasculitic Neuropathy

Introduction: The receptor for advanced glycation end products (RAGE) is a pattern recognition receptor expressed in tissues and cells, which plays a role in immunity. The activation of RAGE results in the translocation of nuclear factor kappa B (NF-kappa B) to the nucleus for expression of proinflammatory molecules. The role of the RAGE pathway in the pathogenesis of diabetic complications is well determined. We aimed to investigate the role of the RAGE pathway in axonal and vasculitic neuropathy. Methods: We immunoreacted nerve biopsy samples from 17 axonal neuropathy (AN), 11 vasculitic neuropathy (VN) and 12 hereditary neuropathy (as a control group) with liability to pressure palsy (HNPP) patients with antibodies to NF-kappa B and RAGE. Subsequently, we performed double staining with the antibodies to NF-kappa B or RAGE and T cells, macrophages and Schwann cells. Results: RAGE and NF-kappa B immunoreactivities were higher in the perivascular cuff and in endoneurial cells in VN than in AN and HNPP. Although there is no significant difference, nerve biopsies with AN showed higher NF-kappa B and RAGE immunoreactivities than HNPP. The colocalization study showed that most of the NF-kappa B- and RAGE-positive cells were CD8 (+) T cells in VN. In AN, all NF-kappa B- and RAGE-positive cells were macrophages, whereas all NF-kappa B-and RAGE-positive cells were Schwann cells in HNPP. Conclusion: The activation of the RAGE pathway predominant in CD8 (+) T cells underscores its role in VN. In AN patients, the immunoreactivity to NF-kappa B and RAGE in macrophages may support their role in axonal degeneration without inflammatory milieu

A Novel De Novo Mutation Involving the Mll2 Gene in a Kabuki Syndrome Patient Presenting with Seizures

Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c. 12964C>T [p.Gln4322*]) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologistsWoSScopu

Voltage gated calcium channel antibody-related neurological diseases

Voltage gated calcium channel (VGCC) antibodies are generally associated with Lambert-Eaton myasthenic syndrome. However the presence of this antibody has been associated with paraneoplastic as well as nonparaneoplastic cerebellar degeneration. Most patients with VGCC-antibody-positivity have small cell lung cancer (SCLC). Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of the presynaptic part of the neuromuscular junction. Its classical clinical triad is proximal muscle weakness, areflexia and autonomic dysfunction. Fifty to sixty percent of LEMS patients have a neoplasia, usually SCLC. The co-occurrence of SCLC and LEMS causes more severe and progressive disease and shorter survival than non-paraneoplastic LEMS. Treatment includes 3,4 diaminopyridine for symptomatic purposes and immunotherapy with prednisolone, azathioprine or intravenous immunoglobulin in patients unresponsive to 3,4 diaminopyridine. Paraneoplastic cerebellar degeneration (PCD) is a syndrome characterized with severe, subacute pancerebellar dysfunction. Serum is positive for VGCC antibody in 41%-44% of patients, usually with the co-occurrence of SCLC. Clinical and electrophysiological features of LEMS are also present in 20%-40% of these patients. Unfortunately, PCD symptoms do not improve with immunotherapy. The role of VGCC antibody in the immunopathogenesis of LEMS is well known whereas its role in PCD is still unclear. All patients presenting with LEMS or PCD must be investigated for SCLC

Psychosocial Adjustment and Adherence to Medication in Patients with Myasthenia Gravis

Objective: This descriptive study was conducted to determine psychosocial adjustment and adherence to medication of myasthenia gravis (MG) patients in two different tertiary centers between July 2015 and November 2016. Methods: This study was completed with 54 MG patients. Data was collected using the Introductory Information Form, the Modified Morisky Scale and the Psychosocial Adjustment to Illness Scale - Self-Rating Scale (PAIS-SR) in Turkish. Results: In this study, it was determined that 48.1% of the patients achieved a good level of psychosocial adjustment to MG. It was found that the patients' medication adherence (59.3%) was moderate. No statistically significant relationship was found between patients' psychosocial adjustment to their disease and adherence to medication (p<0.05). Conclusion: The present study demonstrated the psychosocial adjustment of MG patients to be at a good level and adherence to medication of patients was moderate. This study found that MG patients' psychosocial adjustment does not affect their medication compliance.WOS:0006672650000052-s2.0-8510925027

Expiratory Muscle Strength As A Predictor Of Functional Exercise Capacity In Generalized Myasthenia Gravis

Objectives: To investigate the correlations between the 6-minute walk test and disease severity, pulmonary functions, and respiratory muscle performance in patients with generalized myasthenia gravis (MG) and to determine whether MG disease severity, pulmonary functions, and respiratory muscle performance contribute to 6-minute walk test distance in generalized MG. Methods: This cross-sectional trial was conducted at Hacettepe University in Ankara, Turkey. The study was carried out from February to August 2017. Twenty-eight class II-III MG patients participated in the study. Patients disease severity was determined with the Myasthenia gravis composite scale. All participants underwent the 6-minute walk test, pulmonary function tests, and respiratory muscle strength and endurance assessment. Results: Approximately 40% of patients' expiratory muscle strength were under the lower limit of normal. Multiple linear regression analysis revealed that the percentage of predicted expiratory muscle strength that patients reached were significant and independent predictor of percentage of 6-minute walk test distance that patients reached according to reference values (R2=0.493, F [1-27]=25.275, p<0.001). Conclusion: Expiratory muscle strength is a significant determinant of functional exercise performance in generalized MG with mild or moderate weakness affecting muscles other than the ocular muscles.WoSScopu

Biologia Futura: the importance of 3D organoids—a new approach for research on neurological and rare diseases

3D cell cultures and organoid approach are increasingly being used for basic research and drug discovery of several diseases. Recent advances in these technologies, enabling research on tissue-like structures created in vitro is very important for the value of the data produced. Application of 3D cultures will not only contribute to advancing basic research, but also help to reduce animal usage in biomedical science. The 3D organoid approach is important for research on diseases where patient tissue is difficult to obtain. Therefore, this review aims to show recent advances in the 3D organoid technology in disease modeling and potential usage in translational and personalized medicine of diseases with limited patient material such as neurological diseases and rare diseases