Neuromuscular Diseases最新文献

{"title":"Laser confocal microscopy of corneal nerve fibers in patients with burning eye syndrome and dry eye disease","authors":"T. Safonova, Z. Surnina, E. S. Medvedeva","doi":"10.17650/2222-8721-2024-14-1-34-41","DOIUrl":"https://doi.org/10.17650/2222-8721-2024-14-1-34-41","url":null,"abstract":"Background. Excessive evaporation of the tear film can lead to damage to the corneal nerve fibers and cause the occurrence of chronic neuropathic pain that mimics dryness. Laser confocal microscopy of the cornea allows you to record morphological changes in the nerve fibers of the cornea and can be a diagnostic tool for finding the substrate of neuropathic pain.Aim. To study and compare the structural changes of corneal nerve fibers in patients with burning eye syndrome and dry eye disease.Materials and methods. 54 patients (108 eyes) aged 20–35 years were examined: 17 patients (34 eyes) with a verified diagnosis of mild and moderate dry eye disease were the first group, 17 patients (34 eyes) with burning eye syndrome were the second group. The third group (control) consisted of 20 volunteers (40 eyes) of the same age, who did not have any somatic and eye diseases. The criterion for exclusion from the study was the presence of clinical signs of blepharitis and dysfunction of the meibomian glands in patients and individuals of the control group. In all patients, the number of blinking movements and the completeness of eyelid closure were determined, the Norn test and the Schirmer I test were performed. For an objective assessment of corneal nerve fibers, laser confocal microscopy of the cornea was used on a Heidelberg Retina Tomograph III device with a rostock corneal module.Results. The lowest values of the anisotropy coefficient of the corneal nerve fibers directivity were recorded in the group of patients with burning eye syndrome (2.605), which indicates the greatest changes in the structure of the nerve fiber in this group. There was no significant negative correlation between the value of the Norn sample, the number of blinking movements, and the value of the anisotropy coefficient of the corneal nerve fibers orientation in the group of patients with burning eye syndrome (r = –0.45, p = 0.07 and r = –0.45, p = 0.07). There was a statistically significant (p >0.05) increase in the number of inflammatory Langerhans cells, the length and density of their processes in the groups of burning eye syndrome and dry eye disease compared with the group of healthy volunteers.Conclusion. The method of laser confocal microscopy of the cornea can be used to detect changes in corneal nerve fibers associated with the occurrence of neuropathic pain syndrome.","PeriodicalId":516233,"journal":{"name":"Neuromuscular Diseases","volume":"178 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140276744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stages of research and development of therapeutic approaches for Duchenne myodystrophy. Part I: the period before etiotropic approaches introduction","authors":"K. S. Kochergin-Nikitskiy, S. Smirnikhina, A. Lavrov","doi":"10.17650/2222-8721-2024-14-1-51-62","DOIUrl":"https://doi.org/10.17650/2222-8721-2024-14-1-51-62","url":null,"abstract":"Duchenne muscular dystrophy is one of the most common inherited muscular dystrophies. The cause of this disease with an X‑linked recessive type of inheritance is mutations of the DMD gene, leading to the absence of the dystrophin protein this gene encodes or its impaired function. Loss of dystrophin leads to severe degenerative processes in patients, especially in muscle tissue, with impaired muscle function, loss of ability to move independently, respiratory failure, cardiomyopathies, etc.More than 160 years have passed since the work of Guillaume‑Benjamin‑Armand Duchenne in the 19th century. Despite the efforts of many researchers who have developed various therapeutic approaches designed to alleviate the condition of patients if not cure it, few of them have significantly changed the course of the disease. Different approaches related to specific therapy of ischemia and fibrosis in affected muscles, correction of hormonal regulation of muscle tissue growth, therapeutic methods aimed at preventing damaged myocytes from excessive accumulation of calcium ions, which enhance proteolytic processes, suppression of oxidative stress in muscles, etc. have not yet shown high effectiveness both independently and in combination with glucocorticoids. The introduction of corticosteroid drugs made it possible to slow down disease development, but the average survival still does not exceed 30–40 years and patients spend many of them in a wheelchair. At the same time, the patients’ quality of life can be additionally diminished due to the common corticosteroids’ side effects.","PeriodicalId":516233,"journal":{"name":"Neuromuscular Diseases","volume":"32 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140280224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}