Eun-suk Kang, M.D., Ju-Hong Min, M.D., Kwang Ho Lee, M.D., and Byoung Joon Kim, M.D.. Ann Lab Med 2012;32:331-8. https://doi.org/10.3343/alm.2012.32.5.331

Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly expressed in cardiac muscle, the effect of dysferlin deficiency in cardiac muscle has not been studied. We hypothesized that early myocardial dysfunction could be detected by 2D strain echocardiography and late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR).

Differentiation of multiple system atrophy with predominant parkinsonism (MSA-P) and Parkinson's disease (PD) is important, but an effective tool for differentiation has not been identified. We investigated the efficacy of the composite autonomic symptom scale 31 (COMPASS 31) questionnaire as a tool for evaluating autonomic function in parkinsonism patients. In this study, we enrolled drug-naïve patients with MSA-P and PD, and administered the COMPASS-31 and an objective autonomic dysfunction test (AFT). Demographic and clinical data, including parkinsonism and autonomic dysfunction, were compared between the two groups. Additionally, we determined the optimal COMPASS 31 cut-off score to differentiate MSA-P from PD for use as a screening tool. In this study, 27 MSA-P patients and 41 PD patients were recruited. The total COMPASS 31 score was well correlated with the objective AFT results. When we compared the COMPASS 31 score between the two groups, MSA-P patients showed higher total scores and sub-scores in the orthostatic intolerance, gastrointestinal, and bladder domains compared with PD patients. Similarly, MSA-P patients had more abnormalities in expiration to inspiration ratio, Valsalva ratio and pressure recovery time than PD patients in objective AFT. With 13.25 as the cut-off score for diagnosis of MSA-P, the total COMPASS-31 score demonstrated high sensitivity (92.6%) and moderate specificity (51.2%) with an area under the curve of 0.765. Based on our results, the COMPASS 31 is an effective tool for evaluation of autonomic function in patients with parkinsonism. The COMPASS-31 could be used as a sensitive and convenient screening tool, especially for the differentiation between MSA-P and PD.

Seok HY, et al. J Clin Neurol. 2017 Oct;13(4):325-330. https://doi.org/10.3988/jcn.2017.13.4.325

As most of patients with Myasthenia Gravis have limitations in their physical functioning, many experience changes in psychological states and often have depression. The objective of the current study was to examine the roles of communication with medical professionals, patients’ loneliness, and patients’ depression, in relation to their effects on the patients’ quality of life. For 120 patients with MG of 18 years and older, demographic variables, along with communication with medical professionals, loneliness, depression, and quality of life were measured. As a result, people suffering from MG experienced lower quality of life when their career has changed due to the illness. At the same time, depression was a significant predictor of their quality of life, both in physical and mental domains. The implications for clinical settings and the suggestions for future research are discussed.

Patients with autoimmune disorders often have low levels of 25-hydroxyvitamin D [25(OH)D₃], which correlates with disability or disease activity. Vitamin D may play a role in neuromyelitis optica (NMO) or NMO spectrum disorder (NMOSD), as an important factor involved in immunological pathways. We investigated the relationship between vitamin D levels and disease related disability and clinical activity in patients with NMOSD. Blood samples from 51 patients with NMOSD who were positive for anti-aquaporin4-antibody (AQP4-ab) and 204 healthy controls were collected for 25(OH)D₃ measurement. Clinical parameters, including expanded disability status scale (EDSS) score, annualized relapse rate (ARR) and time of blood sampling relative to attack, were determined in patients with NMOSD. We found that 25(OH)D₃ levels were significantly lower in patients with NMOSD compared to healthy controls. There was no difference between 25(OH)D3 levels in blood samples taken at relapse or remission, and no association between 25(OH)D3 levels and ARR, but there was an inverse correlation between 25(OH)D3 levels and EDSS scores in patients with NMOSD. It remains to be determined whether low vitamin D levels predispose to NMO and/or modify disease severity, or are secondary to neurological disability. In either case the results could also be of relevance to other neurological diseases such as multiple sclerosis as well as NMO.