星形胶质细胞介导的免疫反应在癫痫发病中的作用

星形胶质细胞是中枢神经系统中主要的细胞种类之一,在许多疾病过程中参与调节免疫/炎性反应。在癫痫相关病理损伤过程中可观察到星形胶质细胞的活化增殖,其在癫痫发生过程中的病理生理学作用值得我们进一步研究。在癫痫患者的脑组织中,星形胶质细胞的物理特性发生了明显改变,其中一个重要的变化就是星形胶质细胞炎性反应途径的激活。越来越多的研究表明,促炎分子可以改变胶质细胞-神经元之间的通信,导致痫性发作及痫性发作相关的神经元损伤。离体和在体研究均发现星形胶质细胞是致痫炎性信号的主要来源及作用靶点。因此,理解癫痫大脑组织中的星形胶质细胞炎性反应有助于为星形胶质细胞介导的癫痫的靶向干预策略提供新的思路。本文对星形胶质细胞在癫痫内源性免疫反应中的作用进行综述,讨论并评价耐药癫痫患者的临床研究及临床相关模型实验研究的结果,重点关注炎症反应相关通路(如白介素-1β/Toll样受体4),这些通路有可能是抗痫治疗的潜在靶点及疾病调整治疗的新策略。

Is tuberous sclerosis complex-associated autism a preventable andtreatabledisorder?

Background Tuberous sclerosis complex(TSC)is a genetic disorder caused by inactivating mutations in the TSCl and TSC2 genes,causing overactivation of the mechanistic(previously referred to as mammalian)target of rapamycin(mTOR)signaling pathway in fetal life.The mTOR pathway plays a crucial role in several brain processes leading to TSC-related epilepsy,intellectual disability,and autism spectrum disorder(ASD).Pre-natal or early post-natal diagnosis of TSC is now possible in a growing number of pre-symptomatic infants.Data sources We searched PubMed for peer-reviewed publications published between January 2010 and April 2023 with the terms“tuberous sclerosis",“autism",or“autism spectrum disorder""animal models",“preclinical studies",“neurobiology",and“treatment".Results Prospective studies have highlighted that developmental trajectories in TSC infants who were later diagnosed with ASD already show motor,visual and social communication skills in the first year of life delays.Reliable genetic,cellular,electroencephalography and magnetic resonance imaging biomarkers can identify pre-symptomatic TSC infants at high risk for having autism and epilepsy.Conclusions Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.

新型冠状病毒肺炎中急性症状性痫性发作及其危险因素:多中心回顾性研究

背景自2019年12月,新型冠状病毒肺炎在武汉被首次报告以来,新冠病毒开始在全球蔓延。该疾病由新型冠状病毒,即重症急性呼吸综合征冠状病毒2(Severe acute respiratory syndrome coronavirus 2,SARS-CoV-2)引起,2020年3月12日,世界卫生组织(World Health Organization,WHO)正式宣布了该病毒感染引起的综合征为“大流行”(Pandemic)。根据WHO在2020年4月7日的统计报告,当时全球已报告了超过120万例确诊病例,及超过7.2万死亡病例。早期研究提示,新型冠状病毒肺炎可感染所有年龄段人群,在重症患者,将导致呼吸困难、低氧、急性呼吸窘迫综合征和败血性休克等。