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Neuromuscular Diseases最新文献

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Laser confocal microscopy of corneal nerve fibers in patients with burning eye syndrome and dry eye disease 激光共聚焦显微镜观察烧灼眼综合征和干眼症患者的角膜神经纤维
Pub Date : 2024-03-01 DOI: 10.17650/2222-8721-2024-14-1-34-41
T. Safonova, Z. Surnina, E. S. Medvedeva
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.
背景。泪膜过度蒸发会导致角膜神经纤维受损,引起类似干燥症的慢性神经性疼痛。角膜激光共聚焦显微镜可记录角膜神经纤维的形态变化,可作为寻找神经性疼痛基底的诊断工具。研究并比较烧灼眼综合征和干眼症患者角膜神经纤维的结构变化。对 54 名 20-35 岁的患者(108 只眼)进行了检查:第一组为经确诊患有轻度和中度干眼症的 17 名患者(34 只眼),第二组为患有灼热眼综合征的 17 名患者(34 只眼)。第三组(对照组)由 20 名没有任何躯体和眼部疾病的同龄志愿者(40 只眼睛)组成。排除研究的标准是患者和对照组中的个人出现睑缘炎和睑板腺功能障碍的临床症状。对所有患者的眨眼次数和眼睑闭合的完整性进行了测定,并进行了诺恩试验和施尔默 I 型试验。为了对角膜神经纤维进行客观评估,在海德堡视网膜断层扫描 III 设备上使用激光共聚焦显微镜对角膜进行了检查,该设备配有 rostock 角膜模块。角膜神经纤维方向性各向异性系数的最低值出现在烧灼眼综合征患者组(2.605),这表明该组患者的神经纤维结构变化最大。灼伤眼综合征患者组的诺恩样本值、眨眼运动次数与角膜神经纤维方向性各向异性系数值之间没有明显的负相关(r = -0.45,p = 0.07 和 r = -0.45,p = 0.07)。与健康志愿者组相比,灼热眼综合征组和干眼症组的炎性朗格汉斯细胞数量、其过程的长度和密度均有显著增加(P >0.05),具有统计学意义。角膜激光共聚焦显微镜方法可用于检测与神经性疼痛综合征的发生有关的角膜神经纤维的变化。
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引用次数: 0
Stages of research and development of therapeutic approaches for Duchenne myodystrophy. Part I: the period before etiotropic approaches introduction 杜氏肌营养不良症治疗方法的研究与发展阶段。第一部分:引入外显子疗法之前的时期
Pub Date : 2024-03-01 DOI: 10.17650/2222-8721-2024-14-1-51-62
K. S. Kochergin-Nikitskiy, S. Smirnikhina, A. Lavrov
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.
杜兴氏肌肉萎缩症是最常见的遗传性肌肉萎缩症之一。这种疾病为 X 连锁隐性遗传,病因是 DMD 基因突变,导致该基因编码的肌营养蛋白缺失或功能受损。肌营养不良蛋白的缺失会导致患者出现严重的退行性病变,尤其是肌肉组织退行性病变,表现为肌肉功能受损、丧失独立活动能力、呼吸衰竭、心肌病等。尽管许多研究人员都在努力开发各种治疗方法,以减轻患者的病情,即使不能根治,也能显著改变疾病的进程。与受影响肌肉缺血和纤维化的特殊治疗、肌肉组织生长的激素调节矫正、旨在防止受损肌细胞过度积聚钙离子的治疗方法(钙离子会增强蛋白水解过程)、抑制肌肉氧化应激等有关的不同方法,无论是单独使用还是与糖皮质激素联合使用,都尚未显示出很高的疗效。皮质类固醇药物的引入使疾病的发展得以减缓,但平均存活期仍不超过 30-40 年,而且许多患者要在轮椅上度过。同时,由于常见的皮质类固醇药物的副作用,患者的生活质量会进一步下降。
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Neuromuscular Diseases
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