烟雾病是一种不常见的脑血管病, 发现至今已有40余年历史。该病以颈内动脉及主要分支进行性狭窄, 伴侧枝循环形成（烟雾样血管）为主要特点。好发于5岁左右的儿童及40岁左右的成人, 临床表现为缺血性及出血性卒中。脑血运重建手术可以改善烟雾病患者脑血流动力学状态, 预防卒中再次发生。本文主要阐述烟雾病的流行病学、病因、临床特点及手术治疗。

Moyamoya disease as an uncommon cerebrovascular disease has been known for more than 40 years.It is characterized by progressive stenosis of internal carotid artery and its main branches.There is compensatory development of collateral vessels,which are termed moyamoya vessels.Ischemic and hemorrhagic stroke can occur in both pediatric and adult patients.Surgical revascularization can improve cerebral hemodynamics and prevent further stroke.In this review,we discuss the epidemiology,etiology,clinical features and surgical treatment of moyamoya disease.

阿尔茨海默病（Alzheimer's disease,AD）和帕金森病（Parkinson's disease,PD）是最常见的神经退行性疾病, AD是老年性痴呆最常见的形式之一, 临床特征为进行性的认知和记忆功能减退；PD是最常见的运动障碍疾病, 主要临床症状为静止性震颤、肌强直、运动迟缓以及姿势步态异常。2型糖尿病（type 2 diabetes mllitus,T2DM）为复杂性代谢性疾病, 以胰岛素抵抗和胰岛β细胞功能损害为特点。通常认为这三者是独立的疾病, 然而最近的流行病学调查显示AD、PD与T2DM之间存在密切的联系；基础研究提示三者之间可能存在共同的病理生理机制, 涉及淀粉样蛋白生成机制、胰岛素抵抗以及线粒体功能障碍等方面, 最终分别导致大脑神经元损失、黑质致密部多巴胺能神经元死亡和胰岛β细胞功能障碍。本文就AD、PD与T2DM之间的联系及相关治疗进展进行综述。

Various age-associated diseases are becoming more prominent as a greater percentage of the population reaches old age.Neurodegenerative disorders,e.g.Alzheimer's disease (AD) and Parkinson's disease (PD),and diabetes,in particular type 2 diabetes mellitus (T2DM),are the diseases that represent a large proportion of diagnoses amongst this group.These diseases have long been regarded as separate and each has distinct pathologies,symptoms,and treatments.Recent studies in epidemiology and pathology,however,have shown that T2DM may share a common mechanism of disease with AD and PD,which could allow for a therapeutic intervention capable of managing each disease.This review will discuss evidence implicating connections between these diseases,potential shared mechanisms,and possible treatments.

Rasmussen脑炎是一种散发的起病于儿童期的病因未明的疾病, 以难治性癫痫、智能下降及偏瘫为临床特点。该疾病一般侵犯一侧半球, 目前病因未明。抗癫痫药不能控制该疾病发展及进程, 激素冲击或免疫球蛋白治疗也仅对部分患者起到短时的缓解作用, 病变侧的大脑半球切除手术是目前唯一有效的治疗办法。

Rasmussen's encephalitis is a rare progressive encephalitis that results in intractable seizures,cognitive decline,and hemiparesis.The affected hemispheres of RE patients are typically unilateral.There is no conclusive evidence elucidating RE etiology.To date,no antiepileptic drug has been demonstrated to be effective for controlling the disease or stopping its progression.Immunoglobulins and high doses of steroids may be transiently helpful in some patients at an early stage.Only hemispherectomy are useful methods to control seizures in RE patients.

血管迷走性晕厥（vasovagal syncope,VVS）及体位性心动过速综合征（postural orthostatic tachycardia syndrome,POTS）是好发于儿童及青少年最常见的两种神经介导性晕厥。二者在临床表现上非常相似, 如何对其进行合理的鉴别诊断, 进而进行个体化治疗是儿科临床领域亟待解决的重要课题。近来, 随着转化医学的不断进展, 在基础研究中发现的众多生物活性分子以及生理学参数逐渐成为晕厥及其分型诊断中的重要参数, 由此显著推动了儿童晕厥的临床进展。

Vasovagal syncope and postural tachycardia syndrome are common causes of neurally-mediated syncope in children.They have very similar clinical manifestations.Reasonable differential diagnosis and a individualized treatment were important topics in the pediatric patients.With the development of translational medicine,bioactive molecules and physiological parameters which were discovered in the basic research gradually become the important parameters in the diagnosis of syncope and in its classification,which significantly promotes the clinical progress of syncope in children.

脑血管疾病、痴呆、糖尿病、恶性肿瘤、骨退行性病等重大临床疾患的发病率、患病率、病死率和致残率居高不下, 细胞保护与细胞损伤修复药物、策略和方法的转化研发、应用与推广一直停滞不前或进展过缓应是其重要原因之一。本研究通过医学、生物学、数据库构建、程序编写、软件研制、统计分析及管理工程等多个领域专业人员的通力合作, 对2012年诺贝尔生理学或医学奖两位获奖者关于“成熟细胞可以被重编程而多能化”的原始研究及其被引用的大规模复杂信息数据做整体定量对比和局部关联解析, 探讨体细胞重编程研究的临床应用前景和实现策略, 发现两位获奖者原创性研究及其影响在时间、学科、科学和技术等多个层面与角度上差异具有统计学意义, 揭示和证明了加强与加快转化医学和转化神经科学研究的时代意义、紧迫需求、重要方向、目标与路径及我国医学科研管理体系因此所面临的重要挑战。

Cerebrovascular diseases,dementia,diabetes,malignant tumors and degenerative bone diseases remain high prevalence,incidence,disability and mortality rates.One important reason might be the slow or stagnated progress in translating and applying cytoprotection and cellular repair researches into clinical practice.Based on collaboration among biomedical researchers,database experts,computer programmers,statisticians and management engineers,this is the first study to apply quantitative comparison on the overall characteristics and partial correlation analysis on the large-scale complex information and data regarding the topic “mature cells can be reprogrammed to become pluripotent” proposed by Sir John B.Gurdon and Shinya Yamanaka who were jointly awarded with 2012 Nobel Prize in Physiology or Medicine,as well as articles that cited publications of the two Nobel Laureates to discuss the prospects of translating somatic cell reprogramming researches into clinical practice and corresponding implementation strategies.The study found that there was statistically significant difference between the two Nobel Laureates with regard to the number,publication date,subject categories and scientific and technological focuses of their original researches.The study revealed the importance,objectives,approaches and research trends of translational medicine,especially translational neuroscience.The study also identified the challenges that China should overcome to improve its medical research management scheme.