MRI诊断肌萎缩侧索硬化1例

患者女,45岁,因"前臂萎缩无力并双下肢痉挛1月余"就诊,行走呈痉挛步态,需他人搀扶。无家族病史。专科检查:双下肢肌力4级,肌张力增高,膝腱反射活跃,巴宾斯基征阳性,双侧霍夫曼征阳性。肌电图:椎旁肌、骨间肌及胫前肌有束颤电位,运动单位电位时限延长,波幅增高。实验室检查未见异常。头颅MR检查:T2WI轴位双侧内囊后肢后部见对称性斑点状高信号,冠状位T2WI示双侧内囊     

肌萎缩侧索硬化症的液体衰减翻转恢复成像研究

目的：探讨肌萎缩侧索硬化症（ALS）患者脑部磁共振液体衰减翻转恢复（FLAIR）T2加权像的特点及其与病程、临床评分的关系。方法：使用3．0T磁共振仪对28例临床确诊及拟诊为ALS的患者和25例年龄、性别相匹配的健康志愿者进行MRI检查。常规扫描包括横轴面T1WI、T2WI、FLAIR T2WI及冠状面FLAIR T2WI。观察ALS患者内囊后肢水平皮质脊髓束（CST）、中央前回皮层下白质（SWM）及运动皮层（PMC）的T2 FLAIR信号，并将信号按强度分级。ALS患者根据病程长短分为3组。结果：ALS组于FI，AIRT2WI观察到CST对称性的高信号（1级＋2级）的出现率为57．14％（16／28），其中明显高信号（2级）出现率为17．86％（5／28），SWM对称性高信号为85．71％（24／28），PMC黑线（MDL）为82．14％（23／28）；对照组上述改变的出现率分别为44．00％（11／25）、0．00％（0／25）、12．00％（3／25）和16．00Vo（4／25）。CST对称性的明显高信号（2级）、SWM高信号（1级＋2级）及MDL的出现率两组间有明显差别（P=0．04，P=0．00，P=0．00）。不同病程组的ALS患者其CST信号分级构成比间差异有统计学意义（χ^2=10．10，P=0．03），其中病程组2（6～20个月）的患者CST对称性高信号出现率最高（76．47％，13／17）；FLAIR T2WI中上述各种信号级别之间临床评分无明显差异（P〉O．05）。结论：ALS患者FLAIR T2WI所示CST对称性的明显高信号、SWM的高信号及MDL较为特异。CST对称性的稍高信号则无特异性。CST对称性高信号常出现在6～20个月病程的患者中。FLAIR T2WI成像中各种信号级别不能反映其临床评分的程度。     

Decreased serum endoglin level in patients with amyotrophic lateral sclerosis: a preliminary report

Objectives. Angiogenic mechanisms may have a role to play in the neurodegeneration observed in amyotrophic lateral sclerosis (ALS). The aim of the present study was to measure serum angiogenic factor endoglin (ENG) levels in patients with ALS. Material and methods. The study involved 25 ALS patients and 25 controls. Concentrations of ENG in serum samples were measured using a human Endoglin/CD105 ELISA kit (R&;D Systems, Minneapolis, Minn., USA). Results. Serum ENG concentrations were 14?% lower in the patients with ALS compared to controls (4.57 versus 3.97?ng/mL; p<0.05). There was no significant difference in serum ENG levels between subgroups of patients with ALS subdivided depending on clinical state, type of ALS onset and duration of the disease (p>0.05). The correlation between serum ENG levels and clinical parameters of ALS was not significant either (p>0.05). Conclusions. Results indicate that ENG may be implicated in the pathomechanism of ALS. A decrease in ENG levels, as observed in this study, may accelerate neurodegeneration of motor neurons in ALS through chronic ischaemia caused by impaired perfusion.     

Tele-assistance in patients with amyotrophic lateral sclerosis: long term activity and costs

Purpose: To describe i) nurse’s utilisation and associated costs during 4-year tele-assistance in amyotrophic lateral sclerosis (ALS) ii) optimal time for initiating tele-assistance. Method: 73 ALS patients after hospital discharge were followed up on voice by phone calls conducted by a nurse through a clinical card which was tested for feasibility, efficacy and utility. Number of patients simultaneously assisted/month, calls/patient, fixed and variable costs were calculated. Results: Time between disease’s diagnosis and the beginning of tele-assistance was 720 ± 971 days. ALS patients’ percentage managed by nurses through tele-assistance increased over time by 628%. Tele-assistance integrated care (TAIC) followed up patients with a total of 5073 telephone calls. Steady state activity was reached at the 3rd year employing 5 ± 3 calls/pt/month (time/call 64 ± 44 min). Implementing the card was feasible, useful and effective by operator. Survival from diagnosis of ALS was 1224 ± 1150 days. Survival was related to tracheotomy. Conclusion: TAIC is a feasible tool to manage up to 25 ALS patients/month/nurse and costs about €105.00 per patient per month. Tele-assistance is proposed at 2/3 of time course of the disease.

Implications for Rehabilitation

• People with ALS have a complex time course of their disease necessitating important clinical decisions.

• Individually structured holistic and rehabilitative programmes are required.

• Tele-assistance has been demonstrated to be useful to follow-up providing autonomy of care, psychosocial monitoring, interventions and a source of information.

• Tele-assistance integrated care is a feasible tool to manage up to 25 ALS patients/month/nurse.

• Tele-assistance costs about €105.00 per patient per month.

• Tele-assistance is proposed at 2/3 of time course of the disease.

     

肌萎缩侧索硬化与血浆同型半胱氨酸关系的研究

目的研究肌萎缩侧索硬化与同型半胱氨酸水平的关系。方法采用断面研究，21例肌萎缩侧索硬化患者为ALS组，选取40例健康者为对照组，及检测两组患者的Hey、叶酸、维生素B12,用高效液相色谱仪和荧光检测仪测定两组血浆总Hey水平。结果Hey水平肌萎缩侧索硬化组17．65[17．65±11．23]μmol／L显著高于对照组10．32[10．32±6．72]μmol／L；肌萎缩侧索硬化组[9．52±2．57]ng／mL叶酸水平明显低于对照组13．56[13．56±3．23]ng／mL；维生素B12水平在两组间无统计学差异（P〉0．05），肌萎缩侧索硬化组为（651±112．34）pg／mL，对照组为（632±164．89）pg／mL。结论Hey水平升高与肌萎缩侧索硬化密切相关，可能参与了肌萎缩侧索硬化的病理生理过程。     

脐血干细胞治疗肌萎缩侧索硬化症的观察与护理

目的 探讨脐血干细胞治疗肌萎缩侧索硬化症的观察与护理.方法 对12例肌萎缩侧索硬化症的患者给予脐血干细胞治疗,护理上采用心理干预,治疗前充分准备,治疗后严格观察生命体征,积极预防并发症,并有针对性的进行康复锻炼.结果 随访6～12个月,9例患者自主生活能力有不同程度地改善,2例患者效果不明显,1例患者因病情进展死亡.结...     

肌萎缩侧索硬化症患者皮质下核团MRI体积分析

目的 采用MRI体积分析技术评估肌萎缩侧索硬化症(ALS)患者皮质下核团的体积改变。方法 采集25例ALS患者(ALS组)和25名健康对照(对照组)的MRI高分辨率图像,对皮质下核团的体积通过脑磁共振成像处理软件库(FSL)软件进行自动分析。将每个受试者的年龄、性别、教育年限、总颅内体积作为协变量,采用协方差模型的多协变量分析评估皮质下核团体积的组间差异。结果 ALS组双侧丘脑、左侧海马和右侧杏仁核体积较对照组明显减低。结论 通过MRI在体综合评估ALS皮质下核团的体积,发现ALS组双侧丘脑、左侧海马和右侧杏仁核的体积明显减小。     

Total antioxidant status is increased in the serum of amyotrophic lateral sclerosis patients

Oxidative stress may play an important role in the etiopathogenesis of amyotrophic lateral sclerosis (ALS). The aim of the study was to investigate serum total antioxidant status (TAS) level, a measure of peroxyl‐scavenging capacity, in ALS patients. TAS level was determined by the colorimetric method in the serum from 28 ALS patients and 20 healthy control group subjects. The study revealed that serum TAS level was significantly higher in ALS patients compared with that in controls (p<0.05). There was no significant difference in TAS level between the groups of patients classified according to their age and sex, clinical state, type of ALS onset and duration of disease (p>0.05). The change of TAS level in ALS patients observed in this study suggests that oxidative stress may play an important role in neurodegeneration in ALS. An increase in plasma TAS level may be the result of endogenous protection mechanisms against free radical toxicity, but serum TAS level in ALS patients cannot be a marker of ALS duration, clinical state of patients and type of ALS onset.     

肌萎缩侧索硬化病患者社会支持及焦虑、抑郁状况的调查

目的 调查肌萎缩侧索硬化病（ALS）患者的社会支持、焦虑和抑郁状况,探讨影响因素,为有针对性地采取护理措施,提高患者治疗依从性提供参考.方法 采用问卷调查的形式,使用社会支持评定量表（SSRS）、汉密尔顿抑郁量表（HAMD）、汉密尔顿焦虑量表（HAMA）为评定工具,对56例肌萎缩侧索硬化患者社会支持和焦虑、抑郁发生率的状况进行调查.运用SPSS 16.0统计软件包对数据进行统计分析.结果 肌萎缩性侧索硬化患者获得的社会支持总分为24～53分,平均分为（39.36±6.15）,高于国内常模（P〈0.05）.患者焦虑、抑郁的发生率分别为26.79%和33.93%.结论 患者社会支持的整体状况较好,能得到较好的社会支持,社会支持较好的患者产生抑郁和焦虑症状的概率相对较低.要多关注女性、高年龄、低文化程度、农民及普通工作患者的社会支持状况.     

肌萎缩侧索硬化症的DTI及MRS研究:3T所见

目的应用扩散张量成像(DTI)和磁共振波谱成像(MRS)研究肌萎缩侧索硬化(ALS)上运动神经元受累情况。方法36例ALS患者和36名无神经系统异常的年龄性别匹配的正常人行头颅常规MRI、DTI和1HMRS。分别测量双侧大脑脚及内囊后肢3/4处各向异性分数(FA)值、NAA/Cr值和Cho/Cr值。结果ALS患者组较正常对照组FA值、NAA/Cr值明显降低,Cho/Cr值明显升高,有显著统计学差异。分别分析36例患者的DTI和MRS,其中FA值异常26例(占72.2%),MRS异常有32例(占88.9%),二者结合显示异常有34例(占94.4%)。结论DTI和MRS结合可以明显提高ALS上运动神经元受累的诊断敏感性。     

康复运动对肌萎缩侧索硬化患者躯体功能影响的Meta分析

目的:系统评价康复运动治疗肌萎缩侧索硬化(ALS)患者躯体功能障碍的临床疗效及安全性。方法:计算机检索相关中英文数据库有关康复运动治疗ALS的随机对照研究(RCT),使用柯克兰偏倚风险评估工具对纳入文献进行质量评价和偏倚风险评估,利用Cochrane RevMan软件5.4进行统计分析,使用合并率和95%置信区间(CI)评估结局指标。结果:共纳入11篇英文文献,包括481例ALS患者,其中试验组包括耐力训练、阻力训练、有氧运动、呼吸训练器,对照组为简单关节牵伸活动、无阻力呼吸训练器等。Meta分析结果显示：试验组1～3月的ALS功能评定量表(ALSFRS-R)评分优于对照组。试验组6月、10～12月ALSFRS-R、用力肺活量预计值(FVC%)、ALS生活质量评分(ALSSQOL-R)、0～3月疲劳严重程度评分(FSS)、6～10月(FSS)、四肢总体肌力评分、上肢总体肌力评分、下肢总体肌力评分与对照组相比差异无统计学意义。结论:1～3月短期内的康复运动能够改善早中期ALS患者ALSFRS-R量表中的整体功能,但长周期康复运动的临床获益仍需开展大样本高质量的临床研究来提供强有力的证据支...     

Further development of biomarkers in amyotrophic lateral sclerosis

Introduction: Amyotrophic lateral sclerosis (ALS) is an idiopathic neurodegenerative disease usually fatal in less than three years. Even if standard guidelines are available to diagnose ALS, the mean diagnosis delay is more than one year. In this context, biomarker discovery is a priority. Research has to focus on new diagnostic tools, based on combined explorations.

Areas covered: In this review, we specifically focus on biology and imaging markers. We detail the innovative field of ‘omics’ approach and imaging and explain their limits to be useful in routine practice. We describe the most relevant biomarkers and suggest some perspectives for biomarker research.

Expert commentary: The successive failures of clinical trials in ALS underline the need for new strategy based on innovative tools to stratify patients and to evaluate their responses to treatment. Biomarker data may be useful to improve the designs of clinical trials. Biomarkers are also needed to better investigate disease pathophysiology, to identify new therapeutic targets, and to improve the performance of clinical assessments for diagnosis and prognosis in the clinical setting. A consensus on the best management of neuroimaging and ‘omics’ methods is necessary and a systematic independent validation of findings may add robustness to future studies.     

Decreased cerebrospinal fluid cytochrome c levels in patients with amyotrophic lateral sclerosis

Objective. There is evidence showing impaired mitochondrial energy production and increased oxidative damage to mitochondria in amyotrophic lateral sclerosis (ALS). It is known that a lack of cytochrome c (CyC) in the mitochondrial intermembrane space can increase free radical release from mitochondria through interruption of the electron transport. CyC also plays a role in the apoptotic cell death which is suspected in ALS. The aim of the study was to measure cerebrospinal fluid (CSF) and serum CyC levels in patients with ALS. Material and methods. Forty ALS patients were diagnosed according to the El Escorial criteria of ALS. The clinical state of the patients was measured using the Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS]. Results. It was shown that overall CyC levels were significantly decreased by 46?% in the CSF of patients with ALS compared with controls (p<0.05), and not affected in serum of patients with ALS (p>0.05). There was no significant difference in CyC levels in relation to the clinical parameters of the disease (p>0.05). Conclusions. The study indicates that CyC may play a role in the pathogenesis of ALS. A possible mechanism is that increased neurodegeneration in ALS caused by free radical production decreases the concentrations of CyC.     

Advances in stem cell therapy for amyotrophic lateral sclerosis

Introduction: Amyotrophic Lateral Sclerosis (ALS) is a progressive, incurable neurodegenerative disease that targets motoneurons. Cell-based therapies have generated widespread interest as a potential therapeutic approach but no conclusive results have yet been reported either from pre-clinical or clinical studies.

Areas covered: This is an integrated review of pre-clinical and clinical studies focused on the development of cell-based therapies for ALS. We analyze the biology of stem cell treatments and results obtained from pre-clinical models of ALS and examine the methods and the results obtained to date from clinical trials. We discuss scientific, clinical, and ethical issues and propose some directions for future studies.

Expert opinion: While data from individual studies are encouraging, stem-cell-based therapies do not yet represent a satisfactory, reliable clinical option. The field will critically benefit from the introduction of well-designed, randomized and reproducible, powered clinical trials. Comparative studies addressing key issues such as the nature, properties, and number of donor cells, the delivery mode and the selection of proper patient populations that may benefit the most from cell-based therapies are now of the essence. Multidisciplinary networks of experts should be established to empower effective translation of research into the clinic.     

扩散张量成像不同参数评价肌萎缩侧索硬化

目的 探讨DTI不同参数对肌萎缩侧索硬化(ALS)的诊断价值.方法 收集14例ALS患者作为病例组,以11名健康志愿者为对照组.采用3.0T MR仪行轴位DTI序列检查,探讨其不同参数对ALS的诊断价值.结果 与对照组相比,病例组除中央后回皮质外所有ROI的分数各向异性(FA)、相对各向异性(RA)、各向异性指数(AI)值均减低(P均＜0.01),中央后回皮质处FA值有减低趋势(P均＜0.05).与对照组相比,病例组放射冠处各指标变化幅度更明显.DTI有差异各指标的敏感度为60.71％～100％;半卵圆中心、放射冠和侧脑室旁白质处各指标敏感度均为100％.DTI有差异的各指标的特异度为55.00％～76.19％;内囊后肢处FA值、RA值、AI值的特异度分别为76.19％、72.73％及68.18％.结论 ALS患者中枢运动区及非运动区的FA值、RA值和AI值与健康人均有差别;ALS患者RA值和AI值改变较健康人更大,RA值更稳定.DTI序列多个指标对判断ALS运动神经元损伤均有较高敏感度和特异度,而不同部位ROI的敏感度和特异度不同.     

肌萎缩侧索硬化症的MRI研究进展

肌萎缩侧索硬化症累及部位包括上、下运动神经元以及皮质脊髓束。其早期诊断对临床医师仍是挑战。MRI技术包括常规MRI、磁共振波谱、弥散张量成像和血氧水平依赖成像已经应用于肌萎缩侧索硬化的临床诊断及相关研究。MRI无创、敏感和直观的优势使其在肌萎缩侧索硬化的诊断上具有极大应用前景。     

Survival and quality of life after tracheostomy for acute respiratory failure in patients with amyotrophic lateral sclerosis

Background

Acute respiratory failure (ARF) is a common event in the advanced stage of amyotrophic lateral sclerosis (ALS) and may be rarely a presenting symptom. Frequently, such patients require intubation and mechanical ventilation (MV) and, in a large proportion, receive tracheostomy, as a consequence of weaning failure. In our study, we investigated postdischarge survival and quality of life (QoL) after tracheostomy for ARF in patients with ALS.

Methods

Design: This study is a retrospective chart review combined with prospective evaluation of QoL and degree of depression. Setting: The study was conducted in an adult, respiratory intensive care unit in a university hospital. Patients: Amyotrophic lateral sclerosis patients with tracheostomy for ARF between January 1, 1995 and April 30, 2008 were investigated. Intervention and measurements: (a) A retrospective chart review was used and (b) prospective administration of the 11-item short-form Life Satisfaction Index (LSI-11) and Beck Depression Inventory (BDI) questionnaires to survivors, at least 1 month after discharge from hospital, was performed.

Results

Sixty patients were studied retrospectively. None of the patients died in the hospital after tracheostomy. Forty-two patients (70%) were discharged completely MV dependent, and 17 patients (28.3%) were partially MV dependent. One patient (1.6%) was liberated from MV.The median survival after tracheostomy was 21 months (range, 0-155 months). The survival rate was 65% by 1 year and 45% by 2 years after tracheostomy. Survival was significantly shorter in patients older than 60 years at tracheostomy, with a hazard ratio of dying of 2.1 (95% confidence interval, 1.1-3.9). All 13 survivors completed the LSI-11 and BDI. The mean (SD) cumulative score on the LSI-11 was 9.3 (3.6; range, 0-22; higher values indicating better QoL), similar to that obtained from a control group consisting of individuals with ALS who had not received tracheostomy (9.3 ± 4.3) and to that reported for persons in the general population. Only 15% of the tracheostomized patients (2/13) were severely depressed, according to BDI; 11 of 13 patients reported a positive view of tracheostomy and said that they would want to undergo this procedure if they could make the decision again.

Conclusions

Patients with ALS have a high chance of long-term survival after tracheostomy for ARF. Although administered at the time of a respiratory crisis without being discussed in advance, tracheostomy shows good acceptance and results in acceptable QoL.     

肌萎缩侧索硬化症的扩散张量成像研究

目的采用DTI技术,定量检测肌萎缩侧索硬化症（ALS）患者脑内上运动神经元（UMN）的受累情况。方法运用GE Signa3.0T磁共振成像系统,对15例临床确诊及拟诊的ALS患者和12例性别、年龄相当的正常对照者进行了全脑DTI扫描。分别计算双侧大脑皮层下白质、皮质脊髓束及胼胝体各部的各向异性分数（FA）和平均扩散系数（MD）,并与多种临床参数进行相关分析。结果ALS患者脑内的FA值在双侧中央前后回皮层下白质、放射冠、内囊后肢后部、大脑脚及胼胝体各部较正常对照者显著下降;而相应部位的MD值无显著变化。FA值与ALSFRS及最大手指敲击率呈正相关,与病程、年龄及病情进展速度呈负相关;MD值与ALSFRS、病情进展速度及年龄呈负相关,而与其他临床指标之间无显著相关性。结论DTI可以通过定量检测ALS患者脑内FA及MD值的变化帮助确定上运动神经元的受累情况,尤其是在临床诊断不是很明确时。     

肌萎缩侧索硬化99例诊断过程分析

目的探讨影响肌萎缩侧索硬化 (ALS)诊断过程及误诊的主要相关因素 ,从而寻找可能的解决办法。方法回顾性分析 1999— 2 0 0 3年我院收治的 99例ALS患者 ,对其临床特点及诊断过程进行统计学分析。结果患者平均确诊时间为 (13 1± 7 5 )个月 ,肌电图检查的时间与确诊时间正相关。患者来我院之前的误诊率为 5 8 6%,最常见的误诊疾病为颈椎病。 40— 5 9岁年龄段患者的误诊率要高于其他年龄段 ,以上肢和球部症状起病患者的误诊率低于以下肢症状起病患者。早期行颈椎MRI检查的患者误诊率偏高。结论导致ALS患者误诊的原因 ,主要是医生对此病认识不足、对影像和电生理检查结果的错误解释等。