62例肌萎缩侧索硬化的临床分析

目的探讨肌萎缩侧索硬化（Amyotrophic Lateral Sclerosis,ALS）的临床和电生理特征。方法收集2004年1月1日至2010年6月30日期间佛山市中医院神经内科收治的62例ALs患者,回顾性分析这些病人的资料并总结其I临床特征。结果本组病人的主要临床特征为慢性隐袭起病,中老年发病（平均发病年龄为49．3岁）,男性多发（男女比例为1．48：1）．首发症状多为羊侧上肢肌无力（54．8％）,可伴有肌肉萎缩,吞咽、言语困难等,电生理检查均表现为脑神经和多个脊髓节段广泛的神经源性损害。结论肌萎缩侧索硬化症是一种累及脊髓前角细胞、脑干运动神经核及锥体柬,具有上Tig动神经元损害并存的慢性进行性神经系统变性疾病。早期诊断是本病的难点,且容易出现误诊。肌电图对本病的诊断和鉴别诊断有重要意义。     

单纤维肌电图在肌萎缩侧索硬化鉴别诊断中的价值

在肌萎缩侧索硬化（ALS）早期，应用常规肌电图（EMG）对ALS与运动受累为主的疾病鉴别诊断非常困难。研究自2001年1月拿2006年12月纳入我院门诊及住院的确诊和疑诊ALS患者，共165例，平均（47、9±11．4）岁，病程平均10个月。研究还纳入非ALS患者145例，平均（39．4±15、4）岁，病程平均18个月。[第一段]     

肌萎缩侧索硬化晚期的吸痰护理

肌萎缩侧索硬化（ALS）是一种逐渐进展的运动神经元变性病，病因尚不明确。目前ALS仍缺乏有效的药物治疗停止或逆转运动性神经元的缺失，确诊后存活期一般为3—5年，大多数ALS患者最终死于呼吸衰竭，无创正压通气技术及气道护理可提高患者的生存时间和生活质量。加强ALS患者呼吸辅助及管理的关键是做到合理、有效、安全的吸痰，做好患者的心理护理，建立有效的沟通方式。     

肌萎缩侧索硬化患者认知与行为功能的调查

目的分析肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)患者的认知、行为功能状况及相关影响因素,为临床护士制定早期干预措施提供依据。方法选取2021年7月至2022年5月在福建医科大学附属第一医院神经内科门诊就诊或住院的ALS患者作为研究对象,采用统一的临床资料调查表、汉化版爱丁堡ALS认知和行为检查量表(Edinburgh cognitive and behavioural ALS screen,ECAS)实施调查。ALS患者认知能力和行为能力影响因素分析采用二分类logistic回归分析。结果共调查ALS患者73例,认知能力平均得分(85.70±26.88)分,认知正常46例(63.01%),认知异常27例(36.99%),单因素分析结果显示,认知功能异常在不同受教育程度、发病年龄、病程患者中差异有统计学意义(P<0.05),在不同性别、发病部位患者中认知异常发生率差异无统计学意义(P>0.05)。多因素分析结果显示,受教育程度和病程是认知能力的独立影响因素(P<0.05)。行为能力中位得分为0(0,1)分,行为正常45例(61.64%),行为异常28例(38.36%),单因素分析结果显示,行为异常在不同病程患者中发生率的差异有统计学意义(P<0.05),行为异常在不同性别、受教育程度、发病年龄、发病部位患者中发生率的差异无统计学意义(P>0.05)。多因素分析结果显示,病程是行为能力的独立影响因素(P<0.05)。结论ALS患者认知和行为功能异常发生率较高,ALS患者的认知异常与受教育程度、病程有关,行为异常与病程有关,故应重视对疾病的早期发现,采取早期干预,以减轻患者的认知行为损害程度。     

早期营养支持对肌萎缩侧索硬化患者临床效果的研究

目的探讨早期营养支持对肌萎缩侧索硬化患者的临床效果并进行评价。方法方法采用随机数字表法,将2008年8月—2015年1月入院的40例出现明显吞咽困难的肌萎缩侧索硬化患者按入院先后顺序随机分为对照组和营养支持组,每组20例,观察营养支持前后患者白蛋白、血红蛋白营养指标变化情况及并发症发生情况,计量资料以±s表示,采用t检验,计数资料采用χ2检验,P0.05为差异有统计学意义。结果营养支持1个月后,营养支持组患者的白蛋白为(39.2±3.99)g/L、血红蛋白为(136.18±16.95)g/L,较营养支持前[(30.1±2.50)、(110.06±14.86)g/L]明显升高,差异均有统计学意义(均P0.05)。营养支持组患者感染性并发症及非感染性并发症的发生率(50%)低于对照组(25%)。结论肌萎缩侧索硬化患者出现吞咽困难后进行早期营养支持,可以有效改善患者的营养状况,预防和减少并发症的发生。     

肌萎缩侧索硬化与血浆同型半胱氨酸关系的研究

目的探讨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，检测两组患者的Hcy、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Hcy水平：肌萎缩侧索硬化组[（17．65±11．23）umol／L]显著高于对照组[（10．32±6．72）umol／L]。肌萎缩侧索硬化组叶酸水平[（9．52±2．57）ng／ml]明显低于对照组[（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。     

30例肌萎缩性侧索硬化症的神经电生理分析

目的 探讨神经电生理检测对肌萎缩性侧索硬化症(ALS)的诊断价值.方法 对30例ALS患者进行常规肌电图(EMG)及神经电图(ENoG)检测.结果 肢体肌共检测肌肉180块,其中失神经电位159块(88.3%),运动单位动作电位(MUAPs)时限增宽126块(70.0%),MUAPs波幅增高122块(67.8%),单纯相或混合相133块(73.9%);胸锁乳突肌共检测60块,其中失神经电位42块(70.0%).MUAPs时限增宽33块(55.0%),MUAPs波幅增高36块(60.0%),单纯相或混合相21块(35.0%);共检测运动神经240条,其中运动神经传导速度(MCV)减慢96条(40.0%),潜伏期延长134条(55.8%),波幅下降180条(75.0%);检测感觉神经240条,其中感觉神经传导速度(SCV)减慢35条(14.6%),潜伏期延长4条(1.7%).波幅下降7条(2.9%).结论 EMG在诊断ALS上有重要价值,同时表明神经电生理检测可作为可疑ALS或ALS患者的随访观察及判定病情和预后的客观指标.     

家庭作业式护理在肌萎缩侧索硬化症的应用

目的探讨有效的肌萎缩侧索硬化患者家庭的护理方法,提高肌萎缩侧索硬化患者的生存质量。方法以布置家庭作业方式对肌萎缩侧索硬化患者进行护理干预,并在出院时、出院后1个月、3个月时分别采用ALS功能分级量表(ALSFRS)进行评价。结果 16例ALS患者出院时、出院后1个月、出院后3个月ALSFRS量表症状总积分间差异无统计学意义(p>0.05),但出院时患者的ALSFRS量表总积分略低于出院后1个月、3个月的总积分。结论实施家庭作业式护理干预后可使大多数患者的临床症状在稳定基础上有所改善,提高患者进食、穿衣、床上翻身、行走等运动功能,提高生活质量。     

社会支持和应对方式对肌萎缩侧索硬化患者生活质量的影响

目的探讨社会支持和应对方式对肌萎缩侧索硬化(ALS)患者生活质量的影响。方法选取2015年2月~2016年2月在本院神经内科就诊、住院的ALS患者100例,进行一般资料、社会支持评定量表(SSRS)、医学应对问卷和生活质量问卷调查,并对调查结果进行相关性分析。结果 ALS患者社会支持总分≥50分者占43%,30~49分者占14%,社会支持总分<30分者占43%,社会支持高分组在生活质量量表8个维度的得分均高于低分组,差异具有统计学意义(P<0.05)。患者多采取回避和屈服这两种应对方式。结论帮助患者领悟社会支持,建立良好的应对方式有利于减少其负性心理情绪对健康的影响,提高患者的生活质量,减少并发症。     

脊髓延髓性肌萎缩症的肌电生理特点

目的：探讨脊髓延髓性肌萎缩症（SBMA）的电生理特点。方法：总结并回顾分析了7例SBMA患者的神经传导和针极肌电图的特点,并以肌萎缩侧索硬化（ALS）患者作为对照组,与SBMA组进行比较。结果：（1）SBMA组复合肌肉动作电位（CMAP）异常的患者和神经的出现率均明显低于ALS组（P〈0.01）。（2）7例SBMA患者均存在感觉神经传导异常,且上肢感觉神经动作电位（SNAP）异常的出现率高于下肢（P〈0.05）。（3）SBMA组自主电位的出现率显著低于ALS组,而巨大电位的出现率显著高于ALS组（P〈0.01）。结论：SBMA的神经肌肉电生理改变具有特征性,可以作为鉴别诊断的重要依据。     

Health-Related Quality of Life in Amyotrophic Lateral Sclerosis: Determining a Meaningful Deterioration

This paper uses the standard error of measurement (SEM) and the standard error of the difference (S(diff)) in relation to data on individuals with amyotrophic lateral sclerosis (ALS) to calculate the minimum change scores required by statistical criteria for each dimension of the Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ-40). Data collected from a longitudinal study was used to evaluate the usefulness of SEM and S(diff) criteria and to compare these criteria with an anchor-based approach in determining meaningful change. Questionnaires were completed on two occasions, 3 months apart. 764 questionnaires were returned. Questionnaires included the ALSAQ-40 and dimension specific transition items. The ALSAQ-40 is a disease specific health-related quality of life instrument for use in studies of patients with ALS or other motor neuron diseases. For all dimensions of the ALSAQ-40 the patterns of SEMs were similar over time. The results suggest that, for example, six points change on a 0-100 transformed scoring of the physical mobility dimension may be considered on distributional grounds a minimum meaningful change. The demonstrated consistency of SEMs for the dimensions of the ALSAQ-40 is empirical evidence of the theoretically claimed advantage of this measure of sample independence, and supports use of this distributional approach to calculate meaningful change.     

Amyotrophic Lateral Sclerosis in a Battery-factory Worker Exposed to Cadmium

Abstract

A 44-year-old patient died from amyotrophic lateral sclerosis (ALS) after nine years of heavy exposure to cadmium (Cd) in a nickel-cadmium (Ni-Cd) battery factory. Two years after starting work he and co-workers had experienced pruritus, loss of smell, nasal congestion, nosebleeds, cough, shortness of breath, severe headaches, bone pain, and proteinuria. Upper back pain and muscle weakness progressed to flaccid paralysis. EMG findings were consistent with motor neuron disease. Cd impairs the blood-brain barrier, reduces levels of brain copper-zinc (Cu–Zn) superoxide dismutase (SOD), and enhances excitoxicity of glutamate via up-regulation of glutamate dehydrogenase and down-regulation of glutamate uptake in glial cells. High levels of methallothionein, a sign of exposure to heavy metals, have been found in brain tissue of deceased ALS patients. The effects of Cd on enzyme systems that mediate neurotoxicity and motor neuron disease suggest a cause-effect relationship between Cd and ALS in this worker.     

Workplace Exposures and the Risk of Amyotrophic Lateral Sclerosis

Background

Occupation has been suggested to play a role in amyotrophic lateral sclerosis (ALS) etiology, but detailed information on the importance of specific workplace exposures is lacking.

Objectives

Our aim was to assess the relationship between workplace exposures and the risk of ALS and to evaluate potential interactions between these exposures and smoking.

Methods

We conducted a case–control study in New England between 1993 and 1996, comprising 109 cases and 253 controls who completed a structured interview covering occupations and workplace exposures. Unconditional logistic regression models were used to estimate the odds ratios (ORs) and 95% confidence intervals (CIs) for ALS. Analyses were conducted among the entire study population and after stratification by smoking.

Results

We observed a higher risk of ALS for construction workers excluding supervisors (OR = 2.9; 95% CI, 1.2–7.2) and precision metal workers (OR = 3.5; 95% CI, 1.2–10.5). Self-reported exposures to paint strippers; cutting, cooling, or lubricating oils; antifreeze or coolants; mineral or white spirits; and dry cleaning agents each appeared to be associated with a 60–90% higher risk. Specific chemicals related to a > 50% increase in risk of ALS included aliphatic chlorinated hydrocarbons, glycols, glycol ethers, and hexane. Relative risks associated with these workplace exposures and chemicals were greater among nonsmokers and persisted in mutually adjusted models.

Conclusions

Our data suggest that certain occupations and workplace exposures may be associated with increased risk of ALS. These results need to be confirmed in independent populations.     

A Cost-Effectiveness Framework for Amyotrophic Lateral Sclerosis,Applied to Riluzole

ObjectivesReexamine cost-effectiveness of riluzole in the treatment of amyotrophic lateral sclerosis (ALS) in light of recent advances in disease staging and understanding of stage-specific drug effect.MethodsALS was staged according to the “fine’til 9” (FT9) staging method. Stage-specific health utilities (EQ-5D, US valuation) were estimated from an institutional cohort, whereas literature informed costs and transition probabilities. Costs at 2018 prices were disaggregated into recurring costs (RCs) and “one-off” transition/“tollgate” costs (TCs). Five- and 10-year horizons starting in stage 1 disease were examined from healthcare sector and societal perspectives using Markov models to evaluate riluzole use, at a threshold of $100 000/quality-adjusted life year (QALY). Probabilistic and deterministic sensitivity analyses were conducted.ResultsMean EQ-5D utilities for stages 0 to 4 were 0.79, 0.74, 0.63, 0.54, and 0.46, respectively. From the healthcare sector perspective at the 5-year horizon, riluzole use contributed to 0.182 QALY gained at the cost difference of $12 348 ($5403 riluzole cost, $8870 RC and −$1925 TC differences), translating to an incremental cost-effectiveness ratio (ICER) of $67 658/QALY. Transition probability variation contributed considerably to ICER uncertainty (−30.2% to +90.0%). ICER was sensitive to drug price and RCs, whereas higher TCs modestly reduced ICER due to delayed tollgates.ConclusionThis study provides a framework for health economic studies of ALS treatments using FT9 staging. Prospective stage-specific and disaggregated cost measurement is warranted for accurate future cost-effectiveness analyses. Appropriate separation of TCs from RCs substantially mitigates the high burden of background cost of care on the ICER.     

Dietary-Derived Essential Nutrients and Amyotrophic Lateral Sclerosis: A Two-Sample Mendelian Randomization Study

Previous studies have suggested a close but inconsistent relationship between essential nutrients and the risk of amyotrophic lateral sclerosis (ALS), and whether this association is causal remains unknown. We aimed to investigate the potential causal relation between essential nutrients (essential amino acids, essential fatty acids, essential minerals, and essential vitamins) and the risk of ALS using Mendelian randomization (MR) analysis. Large-scale European-based genome-wide association studies’ (GWASs) summary data related to ALS (assembling 27,205 ALS patients and 110,881 controls) and essential nutrient concentrations were separately obtained. MR analysis was performed using the inverse variance–weighted (IVW) method, and sensitivity analysis was conducted by the weighted median method, simple median method, MR–Egger method and MR–PRESSO method. We found a causal association between genetically predicted linoleic acid (LA) and the risk of ALS (OR: 1.066; 95% CI: 1.011–1.125; p = 0.019). An inverse association with ALS risk was noted for vitamin D (OR: 0.899; 95% CI: 0.819–0.987; p = 0.025) and for vitamin E (OR: 0.461; 95% CI: 0.340–0.626; p = 6.25 × 10⁻⁷). The sensitivity analyses illustrated similar trends. No causal effect was observed between essential amino acids and minerals on ALS. Our study profiled the effects of diet-derived circulating nutrients on the risk of ALS and demonstrated that vitamin D and vitamin E are protective against the risk of ALS, and LA is a suggested risk factor for ALS.     

Metabolic Abnormalities,Dietary Risk Factors and Nutritional Management in Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects motor neurons, leading to a relentless paralysis of skeletal muscles and eventual respiratory failure. Although a small percentage of patients may have a longer survival time (up to 10 years), in most cases, the median survival time is from 20 to 48 months. The pathogenesis and risk factors for ALS are still unclear: among the various aspects taken into consideration, metabolic abnormalities and nutritional factors have been the focus of recent interests. Although there are no consistent findings regarding prior type-2 diabetes, hypercholesterolemia and ALS incidence, abnormalities in lipid and glucose metabolism may be linked to disease progression, leading to a relatively longer survival (probably as a result of counteract malnutrition and cachexia in the advanced stages of the disease). Among potential dietary risk factors, a higher risk of ALS has been associated with an increased intake of glutamate, while the consumption of antioxidant and anti-inflammatory compounds, such as vitamin E, n-3 polyunsaturated fatty acids, and carotenoids, has been related to lower incidence. Poor nutritional status and weight loss in ALS resulting from poor oral intake, progressive muscle atrophy, and the potential hypermetabolic state have been associated with rapid disease progression. It seems important to routinely perform a nutritional assessment of ALS patients at the earliest referral: weight maintenance (if adequate) or gain (if underweight) is suggested from the scientific literature; evidence of improved diet quality (in terms of nutrients and limits for pro-inflammatory dietary factors) and glucose and lipid control is yet to be confirmed, but it is advised. Further research is warranted to better understand the role of nutrition and the underlying metabolic abnormalities in ALS, and their contribution to the pathogenic mechanisms leading to ALS initiation and progression.     

Fluoroscopy‐Guided Percutaneous Gastrostomy With Pull Technique for the Amyotrophic Lateral Sclerosis Patients With Very Low Vital Capacity

Background: The purpose of this study was to evaluate the safety and usefulness of fluoroscopy‐guided percutaneous gastrostomy (FPG) in patients with amyotrophic lateral sclerosis (ALS) using a large‐profile gastrostomy tube accompanied by the pull technique. This procedure was done without an accompanying endoscopy or gastropexy. Methods: Thirty‐six patients with ALS underwent FPG using a large‐profile gastrostomy tube accompanied by the pull technique. A 24 Fr pull‐type tube was inserted under fluoroscopic guidance into the mouth and pulled to the upper‐abdominal puncture site using a snare. The technical success rate, occurrence of complications, and clinical outcomes were evaluated. Results: The technical success rate was 100%. There were no procedure‐related mortalities or respiratory complications. The mean forced vital capacity of the patients was 732 mL (17.7% of the normal predicted value). During the procedure, 16 patients required ventilator support by nasal mask or tracheostomy. The tube indwelling period ranged from 1 to 24 months (average, 9.3). During this period, all the tubes were maintained in a proper position. In 18 patients, the tube was exchanged after 6 months without any problems. Conclusions: The FPG procedure using a 24 Fr tube and the pull technique shows a high rate of technical success. This procedure has a low risk for respiratory complications because endoscopic guidance is not needed. In addition, gastropexy is not required, which allows a large‐profile catheter to be inserted during a single procedure.     

Impact of Percutaneous Endoscopic Gastrostomy (PEG) on the Evolution of Disease in Patients with Amyotrophic Lateral Sclerosis (ALS)

Dysphagia is a highly prevalent symptom in Amyotrophic Lateral Sclerosis (ALS), and the implantation of a percutaneous endoscopic gastrostomy (PEG) is a very frequent event. The aim of this study was to evaluate the influence of PEG implantation on survival and complications in ALS. An interhospital registry of patients with ALS of six hospitals in the Castilla-León region (Spain) was created between January 2015 and December 2017. The data were compared for those in whom a PEG was implanted and those who it was not. A total of 93 patients were analyzed. The mean age of the patients was 64.63 (17.67) years. A total of 38 patients (38.8%) had a PEG implantation. An improvement in the anthropometric parameters was observed among patients who had a PEG from the beginning of nutritional follow-up compared to those who did not, both in BMI (kg/m²) (PEG: 0 months, 22.06; 6 months, 23.04; p < 0.01; NoPEG: 0 months, 24.59–23.87; p > 0.05). Among the deceased patients, 38 (40.4%) those who had an implanted PEG (20 patients (52.6%) had a longer survival time (PEG: 23 (15–35.5) months; NoPEG 11 (4.75–18.5) months; p = 0.01). A PEG showed a survival benefit among ALS patients. Early implantation of a PEG produced a reduction in admissions associated with complications derived from it.     

Going inside the relationship between caregiver and care-receiver with Amyotrophic Lateral Sclerosis in Italy,a Grounded Theory study

People with amyotrophic lateral sclerosis become dependent on caregivers for daily activities and to perform self-care activities at home. The family caregiver has an important role in the care. The patient decides and controls care but depends on the caregiver to implement self-care behaviours. The quality of caregiver–patient relationships could influence clinical outcomes, as it occurs in other illnesses, so the aim of this study was to investigate the relationship between the Amyotrophic Lateral Sclerosis patients and their family caregiver and how it impacts care, and patient and caregiver outcomes. We interviewed 22 patients/caregivers in a Neuromuscular Clinical Center in the South of Europe, between July and October 2018. A Grounded Theory approach was used, comprising line by line ‘initial coding’, memos writing, ‘focused coding’, advanced memos and categories definition. From the interviews three main categories emerged: ‘reciprocity’, ‘loving to care’ and ‘changing to care’ and four secondary categories: ‘having support’, ‘sharing suffering’, ‘protecting each other’ and ‘thinking positive’. A stable and calm relationship between patient and caregiver, characterised by reciprocity, mutual help and affection affected patient self-care provided at home and the caregiver burden. The concept of mutuality seems to describe this relationship, despite the patient's dependence on the caregiver. The relationship with health professionals and educational interventions could influence the quality of the relationship. Further studies are needed to describe the quality of the relationship in this dyad, to investigate the presence of mutuality and how it affects patient and caregiver outcomes.