目的分析脊髓小脑共济失调8型(Spinocerebellar ataxia type 8,SCA8)患者的基因检测结果,总结有效治疗方法。方法对1例拟诊SCA8患者的基因检测结果和治疗方法作回顾性分析。结果18岁男性患者,因“步态不稳12年”就诊,临床表现为行走不...目的分析脊髓小脑共济失调8型(Spinocerebellar ataxia type 8,SCA8)患者的基因检测结果,总结有效治疗方法。方法对1例拟诊SCA8患者的基因检测结果和治疗方法作回顾性分析。结果18岁男性患者,因“步态不稳12年”就诊,临床表现为行走不稳、剪刀步态、双下肢肌张力增高。抽取患者及其父母的外周静脉血,行遗传性共济失调Panel基因检测、全外显子测序以及Sanger测序验证,基因检测结果显示:患者的ATXN8/ATXN8OS基因CAG重复分别是18次和68次,其母亲ATXN8/ATXN8OS基因CAG重复分别是24次和67次,患者父亲基因检测结果未见异常。结合患者临床症状、生物信息学软件预测结果,明确诊断为SCA8。为改善患者双下肢痉挛症状,实施选择性脊神经背根切断术(SDR)及脊神经根粘连松解术治疗,并进行术后康复锻炼。术后6个月,患者剪刀步态明显改善,行走基本平稳,MAS评分、VAS评分、坐位平衡及立位平衡均有改善。结论ATXN8/ATXN8OS基因串联重复区的CAG异常重复扩增可导致SCA8,临床表现为痉挛性步态不稳,结合基因检测结果可明确诊断,SDR可有效改善SCA8患者的痉挛性步态。展开更多
报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神...报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神经功能障碍、眼球震颤、构音障碍、共济失调,颅脑核磁共振见脑干、小脑对称性萎缩及脑桥“十字征”。基因检测结果显示ATXN8OS的两个等位基因CTA/CTG重复次数异常增多,确诊为SCA8。治疗上予以改善共济失调、自主神经功能障碍等对症治疗后患者反应良好。SCA8为罕见的运动障碍性疾病,临床异质性高。本报道旨在提示临床医师,SCA8也可表现为自主神经功能障碍、共济失调、脑桥“十字征”等类似多系统萎缩小脑型的特点,临床工作中要避免误诊、漏诊。展开更多
Starch is one of the richest natural polymers with low-cost,non-toxic and biodegradable,but is seldom directly used as corrosion inhibitor due to its poor inhibitive ability and low water solubility.To solve this prob...Starch is one of the richest natural polymers with low-cost,non-toxic and biodegradable,but is seldom directly used as corrosion inhibitor due to its poor inhibitive ability and low water solubility.To solve this problem,cassava starch-acryl amide graft copolymer(CS-AAGC)was prepared through grafting acryl amide(AA)with cassava starch(CS),and it was firstly examined as an efficient inhibitor for 1060 aluminum in 1.0 mol·L^(-1)H_(3)PO_(4) media.The adsorption behavior of CS-AAGC and its electrochemical mechanism were investigated by weight loss and electrochemical methods.Additionally,the inhibited aluminum surface was fully characterized by a series of SEM,AFM,contact angle measurements and XPS.Results confirm that CS-AAGC performs better inhibitive ability than CS,AA or CS/AA mixture,and the maximum inhibition efficiency of 1.0 g·L^(-1)CS-AAGC is 90.6%at 20℃.CS-AAGC acts as a mixed-type inhibitor while mainly retards the anodic reaction.EIS has three time constants,and the polarization resistance is significantly increased in the presence of CS-AAGC.The micrograph of inhibited aluminum surface is of hydrophobic nature with low surface roughness and little corrosion degree.展开更多
Previous research regarding the post-8os Chinese young writers might suggest that they are urgently chasing after commercial profits,but this popular viewpoint is too simplistic when facing up to the complex historica...Previous research regarding the post-8os Chinese young writers might suggest that they are urgently chasing after commercial profits,but this popular viewpoint is too simplistic when facing up to the complex historical energies of their work.This article,through close reading the writings of two representative post-8os writers Han Han and Guo Jingming,historically analyzes how the post-8os Writers crowd,by virtue of the“New Concept Composition Contest”platform,have gathered in Shanghai,and points out the core of their writing.Guo Jingming identifies himself with the logic of commercial society,gets dunk of the prosperous of Shanghai,then devoices the young generation from the real Chinese status.Han Han uses the ironic method to deconstruct state propaganda and cultural symbols of Shanghai,while all his heroes or heroines are on cruising the way,do not willing to belong to any value system.The article argues that post-8os writing is ultimately a narrative about the“Chinese Dream,”and on how to rebuild relationships between individuals and their communities.展开更多
Spinocerebellar ataxias （SCAs） are a group of genetic disorders characterized by slowly progressive incoordina- tion of gait and are often associated with poor coordination of the hands, speech, and eye movements. F...Spinocerebellar ataxias （SCAs） are a group of genetic disorders characterized by slowly progressive incoordina- tion of gait and are often associated with poor coordination of the hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The genetic forms of ataxia are diagnosed by family history, physical examina- tion, neuroimaging, and molecular genetic testing. At present, 36 SCA subtypes including 27 pathogenic genes have been identified [1]. Different subtypes of SCAs have clear distribution differences among ethnic populations, and SCA8 is an infrequent entity worldwide, which has mostly been reported in Japanese, but has never been reported in Chinese [2]. SCAB involves bidirectional expression based on the total number of both the （CTA）n and （CTG）n expansion transcripts in ATXN8OS. The pathogenesis of this disorder is complex and the spectrum of clinical presentations is broad. It is predominantly characterized by drawn-out slowness of speech and gait instability, followed by slowly progressive ataxia, with disease onset typically occurring in adulthood [3]. How- ever, the lowest full-penetrance allele for SCA8 onset remains elusive and the current understanding of the phenotypic and genotypic features of SCA8 is limited. Since SCA8 has not yet been reported in the Chinese population and is scantily reported in a small proportion of pedigrees so far, clinical knowledge is still developing. Moreover, the boundary between the normal and patho- genic alleles of SCA8 is uncertain. Here we report the clinical and molecular genetic characteristics of 3 Chinese SCA8 families and have identified 51 CTA/CTG repeats within ATXN8OS, probably the shortest pathogenic allele for SCA8.展开更多
文摘目的分析脊髓小脑共济失调8型(Spinocerebellar ataxia type 8,SCA8)患者的基因检测结果,总结有效治疗方法。方法对1例拟诊SCA8患者的基因检测结果和治疗方法作回顾性分析。结果18岁男性患者,因“步态不稳12年”就诊,临床表现为行走不稳、剪刀步态、双下肢肌张力增高。抽取患者及其父母的外周静脉血,行遗传性共济失调Panel基因检测、全外显子测序以及Sanger测序验证,基因检测结果显示:患者的ATXN8/ATXN8OS基因CAG重复分别是18次和68次,其母亲ATXN8/ATXN8OS基因CAG重复分别是24次和67次,患者父亲基因检测结果未见异常。结合患者临床症状、生物信息学软件预测结果,明确诊断为SCA8。为改善患者双下肢痉挛症状,实施选择性脊神经背根切断术(SDR)及脊神经根粘连松解术治疗,并进行术后康复锻炼。术后6个月,患者剪刀步态明显改善,行走基本平稳,MAS评分、VAS评分、坐位平衡及立位平衡均有改善。结论ATXN8/ATXN8OS基因串联重复区的CAG异常重复扩增可导致SCA8,临床表现为痉挛性步态不稳,结合基因检测结果可明确诊断,SDR可有效改善SCA8患者的痉挛性步态。
文摘报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神经功能障碍、眼球震颤、构音障碍、共济失调,颅脑核磁共振见脑干、小脑对称性萎缩及脑桥“十字征”。基因检测结果显示ATXN8OS的两个等位基因CTA/CTG重复次数异常增多,确诊为SCA8。治疗上予以改善共济失调、自主神经功能障碍等对症治疗后患者反应良好。SCA8为罕见的运动障碍性疾病,临床异质性高。本报道旨在提示临床医师,SCA8也可表现为自主神经功能障碍、共济失调、脑桥“十字征”等类似多系统萎缩小脑型的特点,临床工作中要避免误诊、漏诊。
文摘Mo_2OS(μ-S)_2[S_2CNC_4H_8]_2, Mr=612.61, triclinic, PI, a=8.666(2), b=17.366(6), c=6.708(1), α=98.29(2)°, β=97.27(2)°, γ=79.36(2)°, V=976.5(5)~3, Z=2, Dc=2.03g/cm^3, MoKα(λ=0.71069), μ=19.75cm^(-1), F(000)=588, Final R=0.064, Rw=0.073 for 1517 unique intensity data (I>3σ(I)). The binuclear unit of [Mo_2OS_3] has a new asymmetrically terminal coordinated configuration with Mo-Mo distance of 2.807(3).
基金Funding support from the National Natural Science Foundation of China(51561027)Training Programs of Young and Middle Aged Academic and Technological Leaders in Yunnan Province(2015HB049,2017HB030)Special Project of''Top Young Talents”of Yunnan Ten Thousand Talents Plan(51900109)。
文摘Starch is one of the richest natural polymers with low-cost,non-toxic and biodegradable,but is seldom directly used as corrosion inhibitor due to its poor inhibitive ability and low water solubility.To solve this problem,cassava starch-acryl amide graft copolymer(CS-AAGC)was prepared through grafting acryl amide(AA)with cassava starch(CS),and it was firstly examined as an efficient inhibitor for 1060 aluminum in 1.0 mol·L^(-1)H_(3)PO_(4) media.The adsorption behavior of CS-AAGC and its electrochemical mechanism were investigated by weight loss and electrochemical methods.Additionally,the inhibited aluminum surface was fully characterized by a series of SEM,AFM,contact angle measurements and XPS.Results confirm that CS-AAGC performs better inhibitive ability than CS,AA or CS/AA mixture,and the maximum inhibition efficiency of 1.0 g·L^(-1)CS-AAGC is 90.6%at 20℃.CS-AAGC acts as a mixed-type inhibitor while mainly retards the anodic reaction.EIS has three time constants,and the polarization resistance is significantly increased in the presence of CS-AAGC.The micrograph of inhibited aluminum surface is of hydrophobic nature with low surface roughness and little corrosion degree.
文摘Previous research regarding the post-8os Chinese young writers might suggest that they are urgently chasing after commercial profits,but this popular viewpoint is too simplistic when facing up to the complex historical energies of their work.This article,through close reading the writings of two representative post-8os writers Han Han and Guo Jingming,historically analyzes how the post-8os Writers crowd,by virtue of the“New Concept Composition Contest”platform,have gathered in Shanghai,and points out the core of their writing.Guo Jingming identifies himself with the logic of commercial society,gets dunk of the prosperous of Shanghai,then devoices the young generation from the real Chinese status.Han Han uses the ironic method to deconstruct state propaganda and cultural symbols of Shanghai,while all his heroes or heroines are on cruising the way,do not willing to belong to any value system.The article argues that post-8os writing is ultimately a narrative about the“Chinese Dream,”and on how to rebuild relationships between individuals and their communities.
基金supported by grants from the National Natural Science Foundation of China(81301486 and81672095)
文摘Spinocerebellar ataxias （SCAs） are a group of genetic disorders characterized by slowly progressive incoordina- tion of gait and are often associated with poor coordination of the hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The genetic forms of ataxia are diagnosed by family history, physical examina- tion, neuroimaging, and molecular genetic testing. At present, 36 SCA subtypes including 27 pathogenic genes have been identified [1]. Different subtypes of SCAs have clear distribution differences among ethnic populations, and SCA8 is an infrequent entity worldwide, which has mostly been reported in Japanese, but has never been reported in Chinese [2]. SCAB involves bidirectional expression based on the total number of both the （CTA）n and （CTG）n expansion transcripts in ATXN8OS. The pathogenesis of this disorder is complex and the spectrum of clinical presentations is broad. It is predominantly characterized by drawn-out slowness of speech and gait instability, followed by slowly progressive ataxia, with disease onset typically occurring in adulthood [3]. How- ever, the lowest full-penetrance allele for SCA8 onset remains elusive and the current understanding of the phenotypic and genotypic features of SCA8 is limited. Since SCA8 has not yet been reported in the Chinese population and is scantily reported in a small proportion of pedigrees so far, clinical knowledge is still developing. Moreover, the boundary between the normal and patho- genic alleles of SCA8 is uncertain. Here we report the clinical and molecular genetic characteristics of 3 Chinese SCA8 families and have identified 51 CTA/CTG repeats within ATXN8OS, probably the shortest pathogenic allele for SCA8.
