摘要： Evolutionary development of the human brain is characterized by the expansion of various brain regions. Here, we show that developmental processes specific to humans are responsible for malformations of cortical development (MCDs), which result in developmental delay and epilepsy in children. We generated a human cerebral organoid model for tuberous sclerosis complex (TSC) and identified a specific neural stem cell type, caudal late interneuron progenitor (CLIP) cells. In TSC, CLIP cells overproliferate, generating excessive interneurons, brain tumors, and cortical malformations. Epidermal growth factor receptor inhibition reduces tumor burden, identifying potential treatment options for TSC and related disorders. The identification of CLIP cells reveals the extended interneuron generation in the human brain as a vulnerability for disease. In addition, this work demonstrates that analyzing MCDs can reveal fundamental insights into human-specific aspects of brain development.

关键词： Neurological rehabilitation   Brain injured patients   Long-term prognosis   Glasgow outcome scale-extended   Coma recovery scale-revised  

摘要： Background The present study intended to analyze the outcome of patients with severe brain injury one-year after discharge from early rehabilitation. Methods Early neurological rehabilitation patients admitted to intensive or intermediate care units and discharged between June 2018 and May 2020 were screened for eligibility. The level of consciousness was evaluated using the Coma Recovery Scale-Revised (CRS-R) upon admission and at discharge. At one-year follow-up, the outcome was assessed with the Glasgow Outcome Scale-extended (GOSE). Demographical and clinical data collected during inpatient rehabilitation were used to predict the outcome 1 year after discharge. Results Two hundred sixty-four patients (174 males, 90 females) with a median age of 62 years (IQR = 51-75) and a median duration of their disease of 18 days (IQR = 12-28) were included in the study. At follow-up, the mortality rate was 27% (n = 71). Age and discharge CRS-R total score were independent predictors in a Cox proportional hazards model with death (yes/no) as the dependent variable. According to the GOSE interviews, most patients were either dead (n = 71;27%), in a vegetative state (n = 28;11%) or had a severe disability (n = 124;47%), whereas only a few patients showed a moderate disability (n = 18;7%) or a good recovery (n = 23;9%) 1 year after discharge. Age, non-traumatic etiology, discharge CRS-R total score and length of stay independently predicted whether the outcome was good or poor at follow-up. Conclusion Age was an important predictor for outcome at one-year follow-up, which might be due to altered brain plasticity and more comorbidities in elderly subjects. In addition, the present study demonstrated that the CRS-R total score at discharge might be more important for the prediction of one-year outcome than the initial assessment upon admission.

关键词： Cardiac arrest   Cardiopulmonary resuscitation   Neurological outcome   Out-of-hospital cardiac arrest   Resuscitation  

摘要： Background A favorable neurological outcome is closely related to patient characteristics and total cardiopulmonary resuscitation (CPR) duration. The total CPR duration consists of pre-hospital and in-hospital durations. To date, consensus is lacking on the optimal total CPR duration. Therefore, this study aimed to determine the upper limit of total CPR duration, the optimal cut-off time at the pre-hospital level, and the time to switch from conventional CPR to alternative CPR such as extracorporeal CPR. Methods We conducted a retrospective observational study using prospective, multi-center registry of out-of-hospital cardiac arrest (OHCA) patients between October 2015 and June 2019. Emergency medical service-assessed adult patients (aged >= 18 years) with non-traumatic OHCA were included. The primary endpoint was a favorable neurological outcome at hospital discharge. Results Among 7914 patients with OHCA, 577 had favorable neurological outcomes. The optimal cut-off for pre-hospital CPR duration in patients with OHCA was 12 min regardless of the initial rhythm. The optimal cut-offs for total CPR duration that transitioned from conventional CPR to an alternative CPR method were 25 and 21 min in patients with initial shockable and non-shockable rhythms, respectively. In the two groups, the upper limits of total CPR duration for achieving a probability of favorable neurological outcomes < 1% were 55-62 and 24-34 min, respectively, while those for a cumulative proportion of favorable neurological outcome > 99% were 43-53 and 45-71 min, respectively. Conclusions Herein, we identified the optimal cut-off time for transitioning from pre-hospital to in-hospital settings and from conventional CPR to alternative resuscitation. Although there is an upper limit of CPR duration, favorable neurological outcomes can be expected according to each patient's resuscitation-related factors, despite prolonged CPR duration.

关键词： Labrune syndrome   Leucoencephalopathy   Intracranial cysts   Intracranial calcifications   Case report  

摘要： Background Leukoencephalopathy with brain calcifications and cysts (LCC;also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown. Case presentation We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter. Conclusions These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.

关键词： Amyotrophic lateral sclerosis   Diagnosis   Pathophysiology   Therapeutics   Neurological disorder   Nanomedicine  

摘要： Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurological disease affecting both upper and lower motor neurons. In the United States alone, there are 16,000-20,000 established cases of ALS. The early disease diagnosis is challenging due to many overlapping pathophysiologies with other neurological diseases. The eti-ology of ALS is unknown;however, it is divided into two categories: familial ALS (fALS) which occurs due to gene mutations & contributes to 5-10% of ALS, and sporadic ALS (sALS) which is due to environmental factors & contributes to 90-95% of ALS. There is still no curative treatment for ALS: palliative care and symptomatic treatment are therefore essential components in the management of these patients. In this review, we provide a panoramic view of ALS, which includes epidemiology, risk factors, pathophysiologies, biomarkers, diagnosis, therapeutics (natural, synthetic, gene-based, pharmacological, stem cell, extracellular vesicles, and physical therapy), controversies (in the clinical trials of ALS), the scope of nanomedicine in ALS, and future perspectives.

关键词： 神经病学   神经重症医学   临床研究   重症医学  

摘要： 神经重症医学作为新兴的神经病学和神经外科学亚专业,在中国的发展面临许多挑战。缺乏主题创新、设计合理及实施规范的临床研究是亟待解决的“瓶颈”问题。为解决这些问题,多学科专家学者共同探讨目前神经重症学科发展和临床研究的局限性和面临的挑战,总结出六个主要的优先发展和研究方向,包括脑水肿发生机制、转归预测以及基于新靶点的治疗药物的研发;多模态神经功能监测指导下的个体化评估与管理;血管开通后再灌注损伤的防治;脑损伤后意识障碍的机制、评估及管理策略;神经重症医疗质量控制和可持续改进体系的建立;智能化神经重症诊疗体系建设。希望这些指导意见能够促进我国神经重症医学的发展,全面提升神经重症医疗服务质量。

关键词： 线上教学   CBL教学法   见习   效果   神经教学  

摘要： 目的探讨线上教学联合CBL教学法在目前神经病学见习教学活动中的可行性和实用性。方法选取2021年10—11月在该院神经内科见习的两个班级的见习生作为研究对象,以班级进行简单随机分组,分为采用线上教学联合病例为基础(case-based learning,CBL)的教学法的研究组(n=29)及采用传统教学为主的教学法的对照组(n=32)。教学完成后进行临床测试及临床技能考核,并进行满意度调查。结果研究组临床测试成绩显著高于对照组,差异有统计学意义(P<0.05),但两组临床技能操作比较,差异无统计学意义(P>0.05);满意度方面,线上教学联合CBL教学法得到见习生广泛认可,两组除临床技能操作提高满意度方面外,研究组其他指标均高于对照组,差异有统计学意义(P<0.05)。结论线上教学联合CBL教学法能够显著提高神经病学临床见习生临床各方面能力,而在临床操作技能方面不亚于传统教学法,因此,线上教学联合CBL教学法一定程度上可替代传统教学法。

关键词： PBL   TBL   神经病学   成绩考核   教学评价  

摘要： 目的探讨PBL教学法和PBL+TBL教学法在神经病学见习课堂中的应用。方法选取2021年1—8月2018级齐齐哈尔医学院临床医学专业学生48名,随机分成研究组和对照组。研究组采用PBL+TBL相结合教学法,对照组采用PBL教学法,通过考核成绩和调查问卷方式来评估反馈教学实施情况。结果研究组理论知识考试成绩为(80.4±3.11)分、临床实践操作考核成绩为(84.3±2.52)分,优于对照组,差异有统计学意义(P<0.05);对学生进行问卷调查,发现研究组在问卷调查中理论知识理解、操作能力、交流能力、学习能力及学生对课程的满意度和未来是否继续开展新的教学方法的各项评价指标的分数均高于对照组,差异有统计学意义(P<0.05)。结论通过新教学方法的改革创新发现PBL+TBL相结合教学法更有利于提高学生的学习效率和综合素质。建议推广使用。

关键词： 专业核心期刊   精品科技期刊   审稿专家   学术期刊   新年献词   神经病学   核心库   荣誉称号  

摘要： 金牛辞旧岁,瑞虎迎新春。2021年,是我国学术期刊事业发展迎来新机遇的一年。多部委联合印发《关于推动学术期刊繁荣发展的意见》。广东、湖南、湖北等省份相继出台科技期刊支持计划,助力创建国内、国际一流学术期刊。2021年,是《中华神经医学杂志》创刊20周年!通过践行高起点谋划、高标准建设、高水平推进的办刊方针,我刊学术影响力持续提升。2021年3月,入编北大图书馆2020年版(第9版)《中文核心期刊要目总览》神经病学与精神病学专业核心期刊,这是我刊自2008年后连续5届入编《中文核心期刊要目总览》。4月,再次入选中国科学引文数据库(CSCD)核心库。8月,再次入选《世界期刊影响力指数(WJCI)报告》(2020科技版)。12月,蝉联第七届"广东省精品科技期刊"荣誉称号。这是所有编委、审稿专家和作者、读者朋友们共同努力、共同付出的结果,藉此,衷心感谢每一位关心、支持《中华神经医学杂志》的编委、审稿专家,以及作者、读者朋友!

关键词： 神经解剖学   神经病学   神经外科学   教研室主任   神经生理学   上海医学院   人体解剖学   医学院院长  

摘要： 由耶鲁大学神经学、神经生理学及神经外科学教授哈尔·布鲁门菲尔德(Hal Blumenfeld)编著,空军军医大学人体解剖与组织胚胎学教研室暨梁鋱琚脑研究中心主任李云庆教授,西北大学医学院院长、西北大学神经病学系主任、西北大学脑科学研究中心主任赵钢教授,复旦大学附属中山医院党委书记、复旦大学上海医学院神经病学系主任汪昕教授,以及大连医科大学人体解剖学教研室主任隋鸿锦教授共同主译的《临床神经解剖学:病例解析》已于2021年3月由天津科技翻译出版有限公司出版。