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肌萎缩侧索硬化症(ALS)是运动神经元病的一种类型,病变累及上下运动神经元,其中大多为散发性,5%~10%为家族性.迄今为止,病因尚不清楚.调查显示,本病发病率为1/10万. 相似文献
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肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是一种选择性累及上下运动神经元的神经系统变性疾病。它是以进行性的肌肉无力为特点的致死性疾病,多为中老年起病,男:女=1.6:10,其年发病率为2/10^5~3/10^5。由于病因和发病机制不明,目前尚无阻止本病进展的有效措施,患者多死于呼吸衰竭或多脏器功能衰竭。我科于2004年2月收治1名肌萎缩侧索硬化症并呼吸衰竭行辅助性机械通气患者,通过良好的心身整体护理,收到较好的效果,现将护理体会总结如下。 相似文献
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肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是一种选择性累及上下运动神经元的神经系统变性疾病,是运动神经元病的最常见类型。它是以进行性的肌肉无力为特点的致死性疾病,多为中老年起病,主要表现为:首发症状为手指运动不灵活和力弱,随后大、小际肌和蚯蚓肌等手部小肌肉萎缩,渐渐向前臂、上臂及肩胛肌发展,四肢肢体无力,肌肉萎缩,无感觉障碍。由于病因和发病机制不明,目前尚无阻止本病进展的有效措施,患者多死亡于呼吸衰竭和多脏器功能衰竭[1]。我科于2010年05月2014年05月共收治ALS患者3例,通过良好的身心整体护理,收到较好的效果。 相似文献
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肌萎缩侧索硬化症是一种累进性神经退行疾病,以上、下运动神经元选择性退化和凋亡为特征,引发瘫痪、最终导致死亡。大量引发ALS的基因突变被鉴定出,包括FUS/TLS、EPHA4、SS18 L1、ATXN2和C9ORF72等基因,这些基因突变的发现拓宽了RNA调节参与ALS病理生成的理解。本文对家族性ALS相关的基因突变及现有的ALS啮齿类动物模型进行总结概括。 相似文献
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肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是一种以运动神经元丢失为特征的神经系统退行性疾病.近年研究发现,调节性T细胞(regulatory T cells,Tregs)可能在ALS的发病与进展中发挥重要作用,本文就Tregs的基本功能、在ALS发病中的作用机制及相关临床试验... 相似文献
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肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是以选择性运动神经元变性,进行性瘫痪为特点的慢性神经系统退行性疾病。关于此病的发病机制已有多种假说,近年来许多新的研究进展都是关于伴随着运动神经元死亡而产生的神经炎症反应,人们对于此病的认识也越来越深刻。小胶质细胞及其与运动神经元的相互作用在炎症和疾病的发生发展过程中扮演了重要角色,针对此提出的一系列治疗策略显示出了重要的临床价值。 相似文献
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肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是一种致死性神经系统变性疾病,主要累及锥体束、脑干和脊髓前角运动神经元,临床表现为进行性加重的肌肉萎缩、无力及延髓麻痹,最终因呼吸衰竭死亡。随着研究的深入,ALS除运动症状外,其非运动症状也越来越受到重视。尽管目前该病的诊断主要基于病史、临床表现和电生理,辅助检查仅作为协助排除临床表现相似的其他疾病,遗传学和生物标记物的研究进展为ALS的早期诊断、病理生理机制的揭示、疾病进展及预后的评估提供了客观的参考。虽然目前ALS的治疗药物并不能有效阻止疾病的进展,然而以基因修饰及干细胞移植为代表的新的治疗方法在未来的治疗中显示了巨大的应用前景。 相似文献
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一个肌萎缩侧索硬化家系D21S223微卫星位点遗传连锁分析 总被引:1,自引:1,他引:0
目的对重庆地区1例肌萎缩侧索硬化家系进行遗传连锁分析。方法采用位于21号染色体上的D21S223微卫星位点,经PCR扩增后进行基因型分析,应用GENEHUNTER软件包进行连锁分析。结果最大LOD值为3.06(Θ=0.10),说明该家系致病基因与21号染色体上的D21S223位点连锁。结论SOD1基因突变可能是引起该家系发病的原因。 相似文献
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目的研究肌萎缩侧索硬化症(ALS)模型小鼠脑干蛋白谱表达情况及其发病机制。 方法采用18周龄携带人类SOD1基因突变体的ALS模型(SOD1G93A)雌鼠(模型组)和野生型雌鼠(对照组)为研究对象。采用抓力测试评估小鼠四肢肌肉力量;悬挂测试和转棒测试评估小鼠的抓取力、耐力、平衡能力;爬竿测试和步态测试评估小鼠运动能力和协调能力。麻醉后取脑干组织用TMT标记,蛋白质组学分析两组差异表达蛋白,并进行GO与KEGG富集分析。 结果与对照组小鼠比较,ALS小鼠四肢肌肉力量、抓取力、耐力和平衡能力、运动能力和协调能力下降。脑干蛋白质组学共鉴定和量化了6 702种蛋白质,筛选出差异表达蛋白423个,其中上调蛋白265个,下调蛋白158个。 DAVID基因本体论分析结果显示,ALS小鼠脑干中蛋白富集于胶原蛋白纤维组织、细胞黏附蛋白、线粒体、细胞死亡的负调控等,KEGG 通路主要富集于EMC-受体相互作用、MAPK 信号通路等。 结论ALS小鼠脑干中炎症相关蛋白上调,线粒体相关蛋白和凋亡相关蛋白下调,提示多种机制参与了ALS疾病的发生发展。 相似文献
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Background Amyotrophic lateral sclerosis (ALS) represents a fatal neurodegenerative disorder characterized by progressive death of the upper and lower motor neurons. Transgenic mice over-expressing a mutant form of the human SOD1 gene develop an ALS-like phenotype. Currently, there is no effective treatment or drug for the lethal disease. Previous studies reported potent efficacy of DL-NBP for several neurodegenerative disorders and cerebral ischemia. In this study,we investigated the efficacy of DL-NBP on ALS model mice.
Methods Sixty SOD1-G93A female mice were divided into four groups: vehicle control, 30mg, 60mg, and 120mg DL-NBP/kg. For measurement of motor activity, Hanging wire test and Rotarod test were performed and survival statistics were analyzed by Kaplan-Meier survival curves. The body weight of each mouse was recorded twice one week. The statistical motor unit number estimation (MUNE) technique was used to estimate the number of functioning motor units in gastrocnemius muscle.Musle morphology was evaluated by hematoxylin and eosin staining. Motor neuron quantitation was performed by Nissl staining and microglia activation was observed by immunohistochemistry.
Results Oral administration of 60 mg/kg DL-NBP significantly prolonged survival (164.78±16.672 days) compared to vehicle control(140.00±16.892 days). 60mg/kg DL-NBP treatment significantly decreased the progression rate of motor deficits and suppressed body weight reduction. Furthermore, we found that 60mg/kg DL-NBP slowed the rate of MUNE reduction (p<0.01).Motor neurons were remarkably preserved in the anterior horns in mice treated with 60mg/kg DL-NBP at the stage of 19 weeks, (p<0.01). 60mg/kg DL-NBP treatment significantly reduced CD11b immunoreactivity compared with vehicle control mice (p<0.05). No significant effect was observed in 30mg/kg and 120mg/kg DL-NBP-treament.
Conclusions The post-onset administration of DL-NBP significantly prolonged survival and improved motor performance in SOD1-G93A mice. DL-NBP may be a potential therapeutic agent for ALS. 相似文献
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Therapeutic effects of dl-3-n-butylphthalide in a transgenic mouse model of amyotrophic lateral sclerosis 总被引:3,自引:0,他引:3
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive death of the upper and lower motor neurons. Transgenic mice over-expressing a mutant form of the human SOD1 gene develop an ALS-like phenotype. Currently, there is no effective treatment or drug for the fatal disease. Previous studies reported potent efficacy of dl-3-n-butylphthalide (DL-NBP) for several neurodegenerative disorders and cerebral ischemia. SOD1-G93A mice are a mouse model of ALS. In this study, we investigated the efficacy of DL-NBP on this ALS mouse model.
Methods Sixty SOD1-G93A female mice were divided into four groups. The vehicle control group received 0 mg∙kg-1∙d-1 DL-NBP. The experimental groups received DL-NBP with doses of 30, 60 or 120 mg∙kg-1∙d-1, respectively. For measurement of motor activity, the hanging wire test and rotarod test were performed. Survival statistics were analyzed by Kaplan-Meier survival curves. The body weight of each mouse was recorded twice per week. The statistical motor unit number estimation (MUNE) technique was used to estimate the number of functioning motor units in gastrocnemius muscle. Muscle morphology was evaluated by hematoxylin and eosin staining. Motor neuron quantitation was performed by Nissl staining and microglia activation was observed by immunohistochemistry.
Results Oral administration of 60 mg∙kg-1∙d-1 DL-NBP significantly prolonged survival ((164.78±16.67) days) of SOD1-G93A mice compared with vehicle control ((140.00±16.89) days). Treating mice with DL-NBP (60 mg∙kg-1∙d-1) significantly decreased the progression rate of motor deficits and suppressed body weight reduction. Furthermore, we found that treating SOD1-G93A mice with DL-NBP (60 mg∙kg-1∙d-1) slowed the rate of MUNE reduction (P <0.01). Motor neurons were remarkably preserved in the anterior horns in mice treated with DL-NBP (60 mg∙kg-1∙d-1) at the stage of 19 weeks (P <0.01). Treating mice with DL-NBP (60 mg∙kg-1∙d-1) significantly reduced CD11b immunoreactivity compared with vehicle control mice (P <0.05). No significant effect was observed in mice treated with DL-NBP of 30 or 120 mg∙kg-1∙d-1.
Conclusions The post-disease-onset administration of DL-NBP significantly prolonged survival and improved motor performance in SOD1-G93A mice. DL-NBP may be a potential therapeutic agent for ALS.
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目的 调查肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)患者心理健康状况及共病情绪障碍情况,为患者及时获得心理及药物治疗提供依据.方法 选择2011年9月至2015年2月在我院诊治的ALS患者72例作为病例组,选择同期在我院进行体检的性别及年龄匹配的健康者72例作为对照组,收集两组患者一般情况,对两组进行心理学量表测评,调查其共病焦虑抑郁情况.结果 ALS组的汉密尔顿焦虑量表(Hamilton anxiety scale,HAMA)和汉密尔顿抑郁量表-17项(Hamilton rating scale for depression,HRSD-17)评分分别为(41.22± 1.45)分和(40.56±2.89)分,而对照组两个量表评分分别为(28.59±2.10)分和(24.20±3.14)分,ALS组明显高于对照组(P<0.05).ALS患者共病睡眠障碍、焦虑障碍和抑郁障碍的比例分别为36.1%、33.3%和31.9%,均明显高于同年龄段对照组(分别为5.6%、4.2%和2.8%).Pearson相关分析结果显示,修订版ALS功能评分量表(ALS functional rating scale-revised,ALSFRS-R)与心理状况评分呈明显相关性(P <0.05);logistic回归分析显示病程、受教育程度、ALSFRS-R评分为主要的影响因素(P<0.05).结论ALS患者合并严重的抑郁情绪问题,且抑郁情绪与患者疾病病程、受教育年限、病情直接相关,需要得到及时的干预. 相似文献
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目的 建立家族性肌萎缩侧索硬化症(FALS)转基因模型鼠的繁育方法,并对其子代鼠进行基因鉴定。方法 (1)以6只B6SJLSOD1G93~+半合子雄鼠与6只B6SJLFIJ+/+雌鼠(1:1)交配;(2)由鼠尾血提取基因组DNA,PCR扩增hmSOD1基因的片段,电泳后观察结果;(3)对PCR产物进行纯化测序,并通过BLAST验证。结果 6对种鼠交配产鼠仔53只,存活率为98%(52/53);G93AhmSODl阳性鼠约占44.2%(23/52);PCR扩增产物分别为内对照(IL-2):324bp;Tg(hmSOD1):236bp;测序证实PCR产物的基因序列和hmSODl基因片段中的序列一致.并存在G93A突变。结论 B6SJL-Tg(SOD1-G93A)1Gur/J雄鼠与B6SJLFI/J雌鼠配种能成功繁育出Tg(hmSOD1)阳性的ALS半合子子代鼠:本实验的PCR法能准确鉴定hmSOD1基因阳性鼠,并证实该转人的基因按近似孟德尔方式遗传,为ALS实验研究奠定了基础。 相似文献
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肌萎缩侧索硬化症是一种病因不清的致死性神经系统罕见病,临床表现为进行性加重的肌无力、肌肉萎缩及延髓麻痹,最终累及呼吸肌致呼吸衰竭而死亡。顾锡镇教授从脾肾论治,运用健脾补肾法治疗该病在延缓疾病进展与改善生活质量方面取得了一定疗效。文章总结了顾教授辨治肌萎缩侧索硬化症的临床经验,并例举1个典型医案加以佐证。 相似文献