视神经脊髓炎( neuromyelitis optica,NMO)是一种自身免疫性中枢神经系统炎性脱髓鞘疾病.临床上以急性纵向延伸长节段横贯性脊髓炎( LETM)及视神经炎为主要特点.随着研究的深入及NMO特异性标志物-水通道蛋白-4(aquapor-in-4,AQP-4)抗体( AQP4-IgG)的发现,除经典NMO外,一组更为多样的临床表型,即视神经脊髓炎谱系疾病( neuromyeli-tis optica spectrum disorders,NMOSD)逐渐被临床所认识,受累部位还包括较NMO更局限(如仅表现为长节段横贯性脊髓炎或复发性视神经炎)及与器官或非器官特异性自身免疫性疾病(如系统性红斑狼疮、干燥综合征等)相关的视神经炎或长节段的脊髓炎,也包括伴有症状或无症状性脑内病灶的不典型病例[1].2015 年国际视神经脊髓炎诊断小组( IPND) [2]提出 NMOSD的6 组核心临床症候,包括视神经炎、急性脊髓炎、延髓极后区综合征、急性脑干综合征、急性间脑综合征和大脑综合征.而这一类仅有大脑或脑干症状而缺乏视神经炎及脊髓炎表现的患者在临床上往往易被误诊或漏诊.极后区综合征( APS)作为NMOSD中的一个重要的核心特征,临床上常表现为顽固性呃逆、恶心、呕吐( intrac-table hiccup and nausea,IHN),可在NMOSD病程早期出现,易误诊为消化系统疾病且常被忽视而延误诊治[3].本文报道2例以IHN首发的NMOSD.

Subsequently to the publication of the above paper, an interested reader drew to the authors' attention that, in Fig. 3B on p. 1092, the western blots shown for 'Bax' in the MCF-7 group and 'Cleaved Caspase-8' in the MDA-MB-231 group were strikingly similar, such that these may have been the identical data re-used in the same figure. The authors have subsequently re‑examined their data, and realize that the Cleaved Caspase-8 blots were incorrectly used in Fig. 3B during the process of assembling this figure (i.e., the western blots were duplicated, and these were correctly shown as the data for Bax in the MCF-7 group). Furthermore, the authors have realized that the western blots selected for the Cleaved Caspase-3 experiment in the western blots shown in Fig. 5D on p. 1093 were not as clear as they could have been, and also requested that the data here be changed for those from one of the repeated experiments. Consequently, the revised versions of Figs. 3 and 5, containing the correct data for the Cleaved Caspase-8 blots in the MDA-MB-231 group in Fig. 3B and the replacement Cleaved Caspase-3 blots in Fig. 5C, are shown on the next page. These errors did not affect the major conclusions reported in the paper. All the authors agree to the publication of this corrigendum, and thank the Editor of International Journal of Molecular Medicine for allowing them the opportunity to publish this. The authors regret the error that went unnoticed during the compilation of the figures in question, and apologize to the readership for any confusion that this may have caused. [International Journal of Molecular Medicine 40: 1089-1095, 2017; DOI: 10.3892/ijmm.2017.3081].

目的 对确诊的家族性皮质肌阵挛震颤性癫痫家系(Familial cortical myoclonic tremor with epilepsy,FCMTE)的2p11.1-q12.2和3q26.32-3q28基因位点进行连锁分析.方法 征得受试者同意后,采集临床确诊的FCMTE家系7例患者及13例家系对照者的外周血,采用聚合酶链式反应(PCR)及短串联重复序列(STR)多态性标记物进行连锁分析,初步筛查2p11.1-q12.2和3q26.32-3q28这2个基因位点.结果 根据已报道2p11.1-q12.2和3q26.32-3q28染色体位点,在NCBI mapview图谱中找到这些区域中合适遗传距离的STR.连锁分析结果提示,这些位点与致病基因的两点优势对数比(LOD)值均<-2(θ=0.0),不支持连锁.提示该FCMTE家系的致病基因不在上述2个染色体区段.结论 该家系致病基因位于2p11.1-q12.2和3q26.32-3q28的可能性很小,排除该FC-MTE家系致病基因位于这2个染色体区段的可能.

目的 对家族性皮质肌阵挛震颤性癫痫一家系( Familial cortical myoclonic tremor with epilepsy,FC-MTE)的7例患病者的CTNND2( Catenin Delta 2,CTNND2)基因进行筛查.方法 利用聚合酶链反应( polymerase chain reaction,PCR)和PCR产物测序法对家系先证者及患病成员进行CTNND2基因突变检测.结果 通过直接测序的方法对家系7例患者进行CTNND2基因突变分析,未发现该基因外显子区存在突变.结论 该FCMTE家系CTNND2基因未发现突变,认为该基因不是本家系的致病基因.

目的 分析一氧化二氮(N2 O)滥用导致神经损伤的临床特点.方法 对8例一氧化二氮中毒患者的临床资料进行回顾性分析,总结其临床特点.结果 8例一氧化二氮中毒患者均为青年,都有一氧化二氮接触史,男女均受累. 8例患者周围神经系统均受损,中枢神经系统受损5例,自主神经受损2例,2例有神经精神症状.8例患者检测维生素B12均缺乏,同型半胱氨酸都升高.大剂量维生素B12、甲钴胺或腺苷钴胺治疗均有效.结论长期吸食N2 O可以导致巨幼细胞性贫血、神经系统损伤等,严重者可致命.

Objective: To investigate the clinical features of two autosomal dominant Parkinson's disease pedigrees and to identify the chromosomal locus where the pathogenic genes are located by genetic linkage analysis, so as to accumulate some experience for genetics research of Parkinson's disease pedigree. Methods: A total of 35 person from two pedigrees were studied. Incidence characteristics were studied from the pedigree members' medical history, physical examination, Parkinson's disease exercise and non-motor symptom scale determination, line related auxiliary examination. Genomic DNA was extracted from peripheral anticoagulation of the pedigree members, and chromosomal locus where the pedigree pathogenic genes were located was analyzed by two-point linkage technique. Results: Both pedigrees had typical clinical manifestations of Parkinson's disease and had characteristics of early onset and.similar clinical symptoms. Both were autosomal dominant Parkinson's disease pedigrees. Fluorescently labeled STR genetic markers were used for linkage analysis of four candidate gene loci of PARK1, PARK3, PARK5 and PARK8. The results showed that pathogenic gene of pedigree 1 had linkage to STR polymorphic locus D12S85 near 12 chromosome 12q12 locus, and had some distance of linkage with D1251668 (<10 cM). Relevant chromosomal linkage locus was not detected in pedigree 2. Conclusion: Pedigree 1 is autosomal dominant Parkinson's disease pedigree characterized by tremor and stiffness. Linkage analysis showed certain correlation between STR D12885 and D12S1668 locus of PARK8. Because LRRK2 is a PD -related gene near the two STR loci, we speculate that LRRK2 mutation may be the pathogenic gene of the pedigree. Also, the presence of another PD -related pathogenic gene near LRRK2 gene is possible. Pedigree 2 is autosomal dominant Parkinson's disease pedigree characterized by Stiffness. Genes linked to the four candidate loci were not detected. The first speculation is that pathogenic gene of the pedigree may be irrelevant with the above research locus; the second is that linkage analysis results are affected by the less pedigree members.

嗜酸粒细胞增多症( hypereosinophilic syndrome,HES)是指患者绝对嗜酸性粒细胞计数( Absolute eosinophil count, AEC) ＞1. 5×109/L持续6个月以上,并伴有组织损伤,是一种罕见的异质性综合征.据WHO监测及统计,HES的发病率约为0. 036/10万,而死亡率约为9. 3% [1] . HES可累及全身多个系统,如皮肤、肺部、胃肠道、心脏、神经系统等,其中神经系统受损表现为周围神经病、脑梗死及脑病[2] .

临床上血管性偏侧舞蹈症少见,由出血导致的偏侧舞蹈症更为少见.头部CT对诊断脑出血敏感,但对丘脑底核少量出血的定位并不完全准确,易被误诊为丘脑出血,需结合头部MRI矢状位T1序列扫描精确定位.

Inonotus obliquus polysaccharide (IOPS) was initially separated and purified via precipitation from an aqueous extract with 80% alcohol, a DEAE-52 cellulose anion exchange column, and a Sephadex G-100 gel permeation chromatography system. IOPS was found to have a molecular weight of 111.9 kDa. In L-glutamic acid (L-Glu)-damaged HT22 cells, a 3-h pre-incubation with IOPS enhanced cell viability, inhibited apoptosis and caspase-3 activity, reduced the release of lactate dehydrogenase, restored the dissipated mitochondrial membrane potential, and suppressed the excess accumulation of intracellular reactive oxygen species. Compared with L-Glu-exposed cells, IOPS pre-treated cells exhibited reduced levels of Bcl-2 associated X protein (Bax) and Kelch-like ECH-associated protein 1 (Keap1) and enhanced levels of B-cell lymphoma-2 (Bcl-2), NF-E2p45-related factor 2 (Nrf2), heme oxygenase-1 (HO-1), superoxide dismutase-1 (SOD-1), and cysteine ligase catalytic subunit. In amyloid precursor protein/presenilin 1 (APP/PS1) transgenic mice, an 8-week course of IOPS improved the pathological behaviors related to memory and cognition, reduced the deposition of β-amyloid peptides and neuronal fiber tangles induced by enhanced phosphor-Tau in the brain, and modulated the levels of anti- and pro-oxidative stress enzymes. Additionally, IOPS enhanced the expression levels of Nrf2 and its downstream proteins, including HO-1 and SOD-1, in the brains of APP/PS1 mice. The present study successfully demonstrated the protective effect of IOPS against AD and revealed the possible mechanism underlying the ability of IOPS to modulate oxidative stress, especially Nrf2 signaling, and mediate mitochondrial apoptosis.

Highlights • Dissecting basilar artery aneurysm (DBAA) is relatively rare. • We report the first case of a DBAA manifesting as sudden sensorineural hearing loss. • This case report adds to the symptom spectrum of DBAA.

"一个半综合征"合并双侧面神经麻痹时称为"十五个半综合征",临床上较为罕见,现将我们临床上遇到的1例"十五个半综合征"报道如下. 1 临床资料 患者,男,59岁,因"头晕伴视物双影3 d"入院.既往:高血压病及脑出血病史10 y,遗留言语、右侧肢体活动差,生活可自理.吸烟史40余年,戒烟10 y.饮酒史30余年.入院查体:血压:190/110 mmHg,神清,构音障碍,双眼向左、向右注视时复视,左眼内收受限,右眼内收及外展均受限.

Cardiovascular diseases (CVDs) are the leading causes of death worldwide, and defects in mitochondrial function contribute largely to the occurrence of CVDs. Recent studies suggest that sirtuin 3 (SIRT3), the mitochondrial NAD + -dependent deacetylase, may regulate mitochondrial function and biosynthetic pathways such as glucose and fatty acid metabolism and the tricarboxylic acid (TCA) cycle, oxidative stress, and apoptosis by reversible protein lysine deacetylation. SIRT3 regulates glucose and lipid metabolism and maintains myocardial ATP levels, which protects the heart from metabolic disturbances. SIRT3 can also protect cardiomyocytes from oxidative stress-mediated cell damage and block the development of cardiac hypertrophy. Recent reports show that SIRT3 is involved in the protection of several heart diseases. This review discusses the progress in SIRT3-related research and the role of SIRT3 in the prevention and treatment of CVDs.

可逆性后部白质脑病综合征( RPLS )是一组多病因、多症状的临床综合征,为急性或亚急性起病,主要临床表现为头痛、癫痫发作、视觉障碍、意识障碍、精神异常等,影像学上以大脑后部白质改变为主,预后一般较好,绝大多数患者神经系统损伤症状能够完全恢复,但治疗不及时,也可造成脑组织不可逆性损伤. 本文就RPLS研究现状予以综述.

脑动脉夹层(cerebral arterial dissection,CAD)又称脑动脉剥离,是指由于血管内皮、内膜或内弹性膜撕裂,在强有力的血液冲击下,循环血液流入其间隙,可位于内膜或外膜下,前者可继发血管狭窄闭塞导致脑梗死,后者则易导致管腔扩张形成动脉瘤[1].颅内及颅外动脉均可发生,而其中头臂干夹层引起的脑梗死比较少见,在此报道1 例头臂干夹层引起的脑梗死.

Objective The purpose of this study was to analyze clinical features between transient ischemic attacks and cerebral infarction displaying transient ischemic attacks,to explore the relative clinical factors.Methods A retrospective analysis was performed on 83 patients diagnosed as TIA entered in neurology department.All patients underwent MRI and DWI scan<24 hours after symptoms onset.TCD and neck arterial color dopplar ultrasound or(and) CTA were performed within 1 week after symptoms onset.We separate the TIA patients to two parts:with or without DWI abnormalities,to identify the positive rate of DWI abnormalities.We compared the risk factors,clinical symptoms,likely etiology,assisted examinations and prognosis(7 days) of the two part.Compare the distribution,degree of intra and extra cranial artery stenosis,analyze the distribution,type of atheromatous plaque.Results 30 out of 83 TIA patients (36.1%) revealed focal abnormalities on DWI. The large artery atherosclerosis was related to the positive rate of DWI(P=0.03). The number of atheromatous plaque in large artery atherosclerosis was related to the positive rate of DWI(P=0.04). Within 7 days after TIA outbreaks,the prognosis of DWI+ (30.0%) was higher than DWI-(22.6). Conclusion More than 1/3 patients displaying TIA had DWI abnormalities,it has already formed the cerebral infarction. The large artery atherosclerosis is relate to positive of DWI,the more atheromatous plaque,the more positive frequency of DWI. The patient of DWI+are more likely to develop into persisting clinical symptoms within 7 days.

Grifola frondosa, a type of food and medical fungus, has been shown to exhibit various pharmacological activities, including anticancer effects. As the most typical cancer diagnosed among female patients, breast cancer remains a huge concern threatening human health globally. In the present study, the anti-breast cancer effects of Grifola frondosa polysaccharides (GFPs) and the underlying mechanisms were investigated in MCF-7 and MDA-MB-231 cells, as well as in nude mice bearing MCF-7 tumor xenografts. GFPs exerted cytotoxic effects on the cells, as indicated by a decrease in cell viability, and an increase in the apoptototic rate, lactate dehydrogenase release and reactive oxygen species accumulation, inducing mitochondrial dysfunction. The increased expression of Bax, cleaved caspase-3 and caspase-8, and the reduced levels of B-cell lymphoma 2 (Bcl-2) and Bcl-extra large (Bcl-xL) were observed in the cells incubated with GFPs and in the tumor tissues of the mice treated with GFPs. Moreover, the GFPs significantly suppressed the phosphorylation of AKT/glycogen synthase kinase-3 beta and extracellular signal-regulated kinases in a time-dependent manner. Finally, the inhibition of MCF-7 tumor xenograft growth further confirmed the anti-breast cancer effects of GFPs. All these findings revealed that GFPs induced human breast cancer cell apoptosis via the mitochondrial-dependent apoptotic pathway, and provide experimental evidence to support the use of Grifola frondosa as a potential treatment for breast cancer.

Objective To investigate the incidence of rhabdomyolysis,and the role of elevated serum myocardial enzyme played in acute carbon monoxide poisoning(ACOP).Methods 45 patients with ACOP from October 2014 to February 2015 were analyzed retrospectively.The patients were divided into three groups:mild poisoning(18 patients),moderate poisoning(16 patients),severe poisoning(11 patients),in addition,according to the clinical manifestations of striated muscular injury(swelling,pain or serious myasthenia),the patients were divided into two groups:the evident injury group and nonevident injury group.Results The rates of striated muscular injury were11.1%、24.4%、24.4% in mild、moderate、severe poisoning.The rate of the evident injury patients was 33.3% in ACOP.There was a positive correlation between severe poisoning and mild/moderate poisoning(P<0.05),the severer poisoning,the more obvious changes of serum myocardial enzymes,There was no significant difference in the incidence of positive muscular injury symptoms among three groups(Z=0.22,P>0.05),there was significant difference in the creatine kinase(CK)between the evident injury group and nonevident injury group(P<0.05),however,there was no significant difference in CK-MB%(CK-MB/CK).Conclusion Striated muscular injury is not a rare complication of ACOP,mainly in moderate and severe poisoning.The elevation of serum myocardial enzymes and the degree of poisoning were unrelated with the incidence of positive muscular injury symptoms.The strikingly elevated serum level of serum myocardial enzyme in patients with ACOP might be more likely to indicate the striated muscle but not myocardiac injury.

目的 分析家族性皮质肌阵挛震颤性癫痫(FCMTE)的临床特点.方法 对8例FCMTE患者的临床资料进行回顾性分析,总结家系的临床特点、遗传特征.结果 8例FCMTE患者,连续3代发病,男女均受累,均30岁以后起病,先后出现震颤、全面强直-阵挛发作.其中,5例伴头痛,6例有肢体震颤,4例有情绪焦虑,1例有共济失调症状.8例均于30岁以后癫痫发作,呈强直-阵挛发作.4例刺激左右正中神经记录的躯体感觉诱发电位(SEPs)可见巨大电位,未见C-反射.结论 FCMTE呈常染色体显性遗传,均发生于成人,表现为四肢末端细微震颤、强直-阵挛性癫痫发作,光刺激、情绪激动或惊吓时可诱发.服抗癫痫药有效,服用β受体阻滞剂或饮酒无效,为非进展性病程.神经电生理检查提示肌阵挛或震颤来源于大脑皮质.

目前认为，帕金森病（ PD）是一种较为常见、复杂多层次的神经系统功能紊乱疾病，是以早期黑质致密部多巴胺能神经元丢失为核心的神经退行性疾病〔1〕。 PD的症状具有异质性，并伴具有临床显著性的非运动症状。 PD非运动症状包括嗅觉减退、认知功能障碍、精神症状、睡眠障碍、自主神经功能紊乱、疼痛、疲劳等。其中认知功能障碍是一种常见的非运动症状，从程度上可分为轻度认知功能障碍（ MCI）和痴呆。 PD-MCI常见于早期PD患者，帕金森病痴呆（ PDD）常见于中晚期PD患者。PD认知功能障碍会降低患者的健康相关生活质量，增加家庭经济及非经济负担，因此需要引起足够的重视。

头晕、眩晕是临床工作中常见的患者主诉，各科室医师在门诊、病房均常遇见，属于症状学诊断。长期以来，头晕都缺乏明确的、规范的定义，一直以来，国内外学者多将头晕、眩晕视为同义词。 Drachman 等〔1〕将头晕定义为非特异性的一组症状，依据症状性质，它包括了眩晕、晕厥前、失衡和（或）不稳及非特异的头重脚轻。我国头晕诊断流程建议专家组于2009年采用了该定义〔2〕。2009年Barany协会（国际著名的头晕眩晕研究学会）提出了首个国际前庭症状分类的共识性意见，其将前庭症状分为眩晕、头晕、前庭视觉症状、姿势性症状4大类〔3〕，该分类将头晕与眩晕区分开来，分别属于两种前庭症状。2010年中华医学会关于眩晕诊治的专家共识认为，眩晕指的是自身或环境的旋转、摆动感，是一种运动幻觉；头晕指的是自身不稳感；头昏指头脑不清晰感；认为头晕与眩晕为两种不同的临床表现，两者的发病机制不甚一致，但有时是同一疾病在不同时期的两种表现〔4〕，所以也不能将两者完全割裂开来。