查看更多>>摘要：腓骨肌萎缩症是最常见的一组遗传性周围神经病，临床特点包括对称性远端为主的肌无力伴萎缩、感觉减退以及弓形足、脊柱侧凸等骨骼畸形。临床上根据神经电生理、病理学和遗传学特点可分为多种亚型，基因检测手段有助于明确其致病基因。康复治疗、外科矫形手术治疗和改善症状的药物治疗有助于缓解疾病症状，减轻骨骼畸形。部分针对病因和发病机制的特异性治疗药物已进入临床试验阶段，其疗效和安全性有待进一步明确。 Charcot-Marie-Tooth diseases are a group of most common inherited peripheral neuropathies. The predominant clinical presentations include distal predominance of limb-muscle weakness and atrophy, and sensory loss, as well as skeletal deformities such as pes cavus and scoliosis. On the basis of electrophysiological studies, nerve pathology, and inheritance characteristics, Charcot-Marie-Tooth diseases are subdivided into several types. Genetic tests are helpful to identify the pathogenic genes. Rehabilitation, surgical treatment, and symptomatic drug therapy contribute to ameliorate symptoms and skeletal deformities. Some specific therapeutic drugs targeting pathogenesis have been tested in clinical trials, though their efficacy and safety require further investigation.
查看更多>>摘要：在急性缺血性卒中患者中，堵塞血管的血栓成分存在差异。患者的一些影像学征象与血栓成分相关，例如血栓渗透性，高渗透性血栓与红细胞密度较高、纤维蛋白密度较低相关。血栓的不同成分和机械特性可能会对治疗效果和风险产生影响。因此，文中总结了血栓渗透性与缺血性卒中生物学、影像学特征关系的相关研究，探讨血栓渗透性在急性缺血性卒中患者治疗中的临床意义，为神经内科医生提供参考和帮助。 In patients with acute ischemic stroke, there is a wide variation in the composition of blood clots that block the blood vessels. Some imaging features are associated with the components of the clot, such as thrombus permeability, which is related to higher red blood cell density and lower fibrinogen density. The different components and mechanical properties of the clot may have an impact on treatment effectiveness and risk. Therefore, this article aims to summarize the correlation between thrombus permeability and biological, imaging characteristics, and explore the clinical significance of thrombus permeability in the treatment of patients with acute ischemic stroke, providing reference and assistance for neurologists.
查看更多>>摘要：结核性脑膜炎是由结核分枝杆菌引起的中枢神经系统感染性疾病，其临床表现缺乏特异性，而传统病原学对其诊断效率较低，易导致延误诊断和治疗、影响患者预后，因此早期快速的病原学诊断对结核性脑膜炎的诊治至关重要。文中对近年来出现的可用于诊断结核性脑膜炎的新型检测技术进行综述，主要分为核酸检测方法、代谢组学和蛋白组学3个方面，并在此基础上对未来发展作出展望。 Tuberculous meningitis is a central nervous system infectious disease caused by Mycobacterium tuberculosis. Its clinical manifestations are nonspecific, and effective pathogenic diagnostic methods are lacking, which often lead to delayed diagnosis and treatment, impacting the prognosis of patients. Therefore, early and rapid etiological diagnosis is crucial for the diagnosis and treatment of tuberculous meningitis. This article provides a review of novel detection technologies developed in recent years that can be used for the diagnosis of tuberculous meningitis, covering nucleic acid detection methods, metabolomics, and proteomics, and offering prospects for future development.
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