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1.
Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers’ development for the most rare muscular dystrophies, like the Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2. Here, we aimed to identify novel serum-based miRNA biomarkers for these rare muscular dystrophies, through high-throughput next-generation RNA sequencing. We identified many miRNAs that associate with muscular dystrophy patients compared to controls. Based on a series of selection criteria, the two best candidate miRNAs for each of these disorders were chosen and validated in a larger number of patients. Our results showed that miR-223-3p and miR-206 are promising serum-based biomarkers for Facioscapulohumeral Muscular Dystrophy type 1, miR-143-3p and miR-486-3p for Limb-Girdle Muscular Dystrophy type 2A whereas miR-363-3p and miR-25-3p associate with Myotonic Dystrophy type 2. Some of the identified miRNAs were significantly elevated in the serum of the patients compared to controls, whereas some others were lower. In conclusion, we provide new evidence that certain circulating miRNAs may be used as biomarkers for three types of rare muscular dystrophies.  相似文献   

2.
Recent advances in polymyositis   总被引:1,自引:0,他引:1  
The most typical clinical features of polymyositis (PM), the criteria of diagnosis and principles of treatment are outlined. An inflammatory disease of muscle, PM also frequently affects other organs such as the skin and hence the name dermatomyositis. The principal cardiac symptom is a peculiar disturbance of atrioventricular conduction, correlated with a specific anti-Ro autoantibody, present in 25% of patients. The etiology of PM is as yet unknown, although there is evidence for an autoimmune pathogenesis. It is frequently found in association with other immune-mediated diseases such as myasthenia gravis, pemphigus, immune-complex vasculitis and Sjogren syndrome. Laboratory investigations show hypergammaglobulinemia, a decrease of complement factors C3 and C4 and the presence of circulating immune complexes in 70% of patients. Very frequent, especially in cases of dermatomyositis, is a histologically detectable accumulation of IgG and complement in the walls of the intramuscular venous vessels. Cell-mediated hypersensitivity, emphasised formerly as highly significant in PM, has not been confirmed. The presence of specific antimyoglobin lymphocyto-toxicity, once considered to be the hallmark of muscle degeneration in PM, has been excluded by a number of laboratories. In a personal series of patients with various clinical forms of PM a severe loss of suppressor/cytotoxic lymphocytes was found in the peripheral blood and a relative increase in the first subset. These results support the hypothesis that a serious disturbance of immunoregulation is present in PM and is the cause of a multitude of immunological anomalies, the characterisation of which is under study.This work was supported by the Muscular Dystrophy Group of Great Britain  相似文献   

3.
In most myopathies, the duration of motor unit action potentials (MUAPs) is shorter than normal. However, polyphasic MUAPs of duration longer than 20% of the control mean, (long-duration polyphasic potentials, or LDPPs) may be seen. We therefore analyzed the incidence and meaning of LDPPs using quantitative MUAP analysis in 41 patients with different myopathies. The mean duration of all potentials was reduced in only 64% of patients because LDPPs increased the mean. When only simple potentials were considered, however, the mean duration was decreased in 95% of patients. This observation confirms the need to exclude LDPPs when calculating the mean duration of MUAPs for diagnosis. We found LDPPs most often in chronic polymyositis and in one patient with Becker Muscular Dystrophy. LDPPs are attributed to desynchronization of single-fiber potentials within the MUAP and may be due to slow conduction in regenerating muscle fibers.  相似文献   

4.
Summary Two patients with lymphoproliferative disorders developed peripheral neuropathy and neoplastic lymphocytic nerve infiltrates. One of these patients, with B cell small lymphocytic lymphoma, presented with a chronic axonal neuropathy. CD22+, CD5 cells were identified in the epineurium. The other patient with chronic lymphocytic leukemia of 3 years duration developed a mixed axonal and demyelinating neuropathy. CD22+ and CD5+ cells were observed in the endoneurium. While the cause of the neuropathy in these two cases is unknown, intraneural or systemic autoantibody production may have led to the development of disease.Supported by center grants from the NIH (NINCDS-NS117661) and the Muscular Dystrophy Association to Columbia University, by a grant from the Aaron Diamond Foundation, and by NIH grants CA48236 and EY06337 to Dr. Knowles. Dr. Thomas is a fellow of the Charles A. Dana Foundation and of the Muscular Dystrophy Association  相似文献   

5.
Introduction: Anecdotal reports from families and care providers suggest a wide variation in services received by individuals with Duchenne/Becker muscular dystrophy (DBMD). Methods: We documented the type and frequency of health services received by individuals with DBMD using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) interview data released in June 2012. Interviews with eligible caregivers from 5 sites (Arizona, Colorado, Georgia, Iowa, and western New York) were conducted from April 2007 to March 2012. Results: Two hundred ninety‐six caregivers (66% of those contactable) participated in the interview. There were significant differences among sites in the specialists seen and services received. Concurrence with cardiac recommendations was higher than that with respiratory recommendations. Conclusions: The results of this survey support and quantify the anecdotal reports from families and care providers regarding the disparities in services received by individuals with DBMD. It remains to be determined whether these differences affect outcomes. Muscle Nerve 53: 191–197, 2016  相似文献   

6.
Summary Muscle biopsies from 8 cases of benign spinal muscular atrophy of the Kugelberg-Welander variety were examined with the electron microscope. Progressive disorganisation and dissolution of myofibrils was found in atrophic muscle fibres and was associated with the presence of lysosomes in such fibres. Distinctive nuclear and sarcolemmal changes were also found in atrophic fibres. The earliest changes which were considered to be due to denervation were found in fibres which were slightly atrophied or of normal size and consisted of dilatation of the sarcoplasmic reticulum, enlargement of mitochondria and a relative increase in the amount of sarcoplasm which contained aggregates of ribosomes. Most of the fibres of normal or increased size contained considerable amounts of glycogen but were otherwise normal ultrastructurally. A small proportion of such fibres had internally-situated sarcolemmal nuclei or showed focal degenerative changes or segmental hyaline necrosis with disruption of the plasma membrane. The findings are considered in relation to those of previous electron-microscopic studies of denervated muscle in the experimental animal and in man and to the histochemical changes which are found in muscle biopsies from such cases.Supported by grants from the Medical Research Council, the Muscular Dystrophy Group of Great Britain and the Muscular Dystrophy Associations of America, Inc.  相似文献   

7.
Summary Freeze fracture analysis of intramembranous particle density in skeletal muscle plasma membrane from 7 patients with Duchenne muscular dystrophy (DMD), 5 patients with facioscapulohumeral muscular dystrophy (FSH) and 5 patients with myotonic dystrophy (MyD) were carried out. Marked deplction of intramembranous particles including orthogonal arrays were significantly decreased in FSH. No abnormalities were noted in MyD.This work was supported by a Research Center Grant from the Muscular Dystrophy Association of America and by grants NS-08075, NS-14471 and 5 M01 RR00040 from the U.S. Public Health Service  相似文献   

8.
We studied respiratory function and Chest Wall kinematics in a large population of adult patients affected by slow course muscular dystrophies such as Limb-Girdle Muscular Dystrophy (LGMD, n=38), Becker Muscular Dystrophy (BMD, n=20) and Facio-Scapulo Humeral Dystrophy (FSHD, n=30), through standard spirometry and through the Optoelectronic Plethysmography, to measure the thoraco-abdominal motion during Quiet Breathing and Slow Vital Capacity maneuvers. Within the restrictive pulmonary syndrome characterizing LGMD and FSHD, several different thoraco-abdominal patterns compared to those of healthy subjects were present in the more advanced stages of the disease. These differences were present in the seated position, during the execution of a maximal maneuver such as Slow Vital Capacity. A global respiratory (both inspiratory and expiratory) muscle involvement was more pronounced in the LGMD and FSHD than in the BMD patients, and a significant reduction of abdominal contribution in wheelchair bound patients was observed. In conclusion, OEP technique is able to reveal mild initial modifications in the respiratory muscles in FSHD and LGMD patients, which could be helpful for functional and new therapeutic strategy evaluation.  相似文献   

9.

Background

Little is known about the relationship between Becker Muscular Dystrophy (BMD) and developmental problems, school life, employment, and mental problems. We aimed to clarify whether BMD is a risk factor for developmental disorders, problematic behavior, psychiatric diseases, and other social difficulties in school life and employment.

Methods

Adults with genetically or immunohistochemically confirmed BMD from the Registry of Muscular Dystrophy in Japan (REMUDY) were asked to complete a questionnaire regarding patient history, school life, employment, and mental problems.

Results

In total, 125 (68.3%) of 183 participants with BMD (median age, 37.2?years) completed the questionnaire. Of these, ten had developmental disorders (mental retardation, autism, and speech disturbance). Fifty-eight (44%) experienced bullying in school, and 39 felt the reason for bullying was physical handicap. Sixteen participants experienced problematic behavior such as cutting class, domestic violence, violent incidents, suicide attempts, or self-mutilation. Employment histories were noted by 92 (73%), of whom 15 could not continue to work due to physical handicaps. Fifteen participants had psychiatric disorders, with 5, 3 and 1 having neurosis, depression, and bipolar disorder, respectively. The other 6 participants with psychiatric disorders did not specify their diagnoses. Patients carrying a Dp140 expression change had significantly more incidences of developmental disorders, but not bullying, problematic behavior, workplace difficulties, or psychiatric disorders.

Conclusions

Patients with BMD risk bullying and workplace difficulties, as well as developing psychiatric disorders. Parents, teachers, and supporters should be mindful of the daily environment of BMD patients and provide support to help them cope with stress.  相似文献   

10.
Introduction: The purpose of this study was to summarize our experience with off‐the‐shelf anterior shell carbon fiber ankle–foot orthoses (CFAFOs) prescribed to adult neuromuscular patients in an outpatient clinic. Methods: We studied ambulatory patients who were seen in Muscular Dystrophy Association or amyotrophic lateral sclerosis clinics between 2011 and 2014 and prescribed anterior shell CFAFOs. Charts were reviewed with attention to diagnosis, satisfaction with use, and reasons for acceptance or rejection. We included individuals who were currently using AFOs and those being prescribed AFOs for the first time. We were especially interested in reasons for acceptance or rejection of the orthosis. Results: Two hundred eighty‐three charts were reviewed. Of these, 109 of 123 (89%) patients were satisfied or extremely satisfied with the anterior shell CFAFOs, including 38 who had previously used other styles. Conclusion: Anterior shell CFAFOs should be considered for most neuromuscular patients with distal leg weakness. Muscle Nerve 55 : 202–205, 2017  相似文献   

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