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1.
M.-D.-M. Amador F. Muratet E. Teyssou S. Boillée S. Millecamps 《Revue neurologique》2021,177(5):524-535
Due to novel gene therapy opportunities, genetic screening is no longer restricted to familial cases of ALS (FALS) cases but also aplies to the sporadic populations (SALS). Screening of four main genes (C9orf72, SOD1, TARDBP and FUS) identified the causes in 15% of Amyotrophic Lateral Sclerosis (ALS) patients (two third of the familial cases and 8% of the sporadic ones) but their respective contribution to ALS phenotype varies according the age of disease onset. The genetic overlap between ALS and other diseases is expanding and includes frontotemporal dementia, Paget's Disease of Bone, myopathy for adult cases, HSP and CMT for young cases highlighing the importance of retrieving the exhaustive familial history for each indivdual with ALS. Incomplete disease penetrance, diversity of the possible phenotypes, as well as the lack of confidence concerning the pathogenicity of most identified variants and/or possible oligogenic inheritance are burdens of ALS genetic counseling to be delivered to patients and at risk individuals. The multitude of rare ALS genetic causes identifed seems to converge to similar cellular pathways leading to inapropriate response to stress emphacising new potential therapeutic options for the disease. 相似文献
2.
目的 探讨独立轮椅转移技术在脑卒中偏瘫患者康复中的应用效果.方法 对72例脑卒中偏瘫患者实施轮椅转移的康复训练,66例完成8周训练.其中对照组31例实施常规训练方法;观察组35例实施独立轮椅转移技术干预.于干预前,干预4周、8周后分别采用Barthel指数、脑卒中自我效能感量表及徒手肌力评定法评价患者的训练效果.结果 两组Barthel指数、脑卒中自我效能感评分及肌力等级比较、时间效应及交互效应差异有统计学意义(均P<0.05).结论 独立轮椅转移技术训练,能有效提高脑卒中偏瘫患者日常生活能力和自我效能感,改善肌力,促进患者康复. 相似文献
3.
Didem Sezgin Ozcan Hilmi Umut Tatli Cemile Sevgi Polat Oznur Oken Belma Fusun Koseoglu 《Journal of stroke and cerebrovascular diseases》2019,28(6):1578-1585
Objective: To evaluate whether combining fluidotherapy to conventional rehabilitation program provides additional improvements on pain severity, upper extremity functions, and edema volume in patients with poststroke complex regional pain syndrome (CRPS). Design: Randomized controlled trial. Setting: Training and research hospital. Participants: Thirty hemiplegic patients with subacute stage CRPS type-1 of the upper extremity. Interventions: The patients randomly divided into 2 groups. Both groups received a 3 week conventional rehabilitation program (5 days/week, 2-4 hours/day). Experimental group received 15 sessions additional fluidotherapy application to the affected upper extremity (40 °C, 20 minutes in continuous mode, 5 sessions/week). Main Outcome Measures: We evaluated the distal upper arm edema with a volumeter. Other used clinical assessment scales were Brunnstrom recovery stages of the arm and hand for motor recovery, motor items of the functional independence measure for functional status, visual analog scale for pain severity, and the painDETECT questionnaire for presence and the severity of neuropathic pain. Results: The mean age of the participants was 64.3 ± 11.66 (28-84). At the post-treatment evaluation, significant improvements were revealed regarding to the edema volume, pain visual analog scale, painDETECT and functional independence measure scores, and the Brunnstrom stages of upper extremity and hand in both groups (P < .05). But among the parameters mentioned above, only the decrease in edema volume and the painDETECT scores were greater in fluidotherapy group than the control group (P < .05). Conclusions: Addition of the fluidotherapy to the conventional rehabilitation program provides better improvements on neuropathic pain and edema volume in subacute stage poststroke CRPS. 相似文献
4.
《Annals of physical and rehabilitation medicine》2019,62(6):426-430
This paper revisits the taxonomy of the neurophysiological consequences of a persistent impairment of motor command execution in the classic environment of sensorimotor restriction and muscle hypo-mobilization in short position. Around each joint, the syndrome involves 2 disorders, muscular and neurologic. The muscular disorder is promoted by muscle hypo-mobilization in short position in the context of paresis, in the hours and days after paresis onset: this genetically mediated, evolving myopathy, is called spastic myopathy. The clinician may suspect it by feeling extensibility loss in a resting muscle, although long after the actual onset of the disease. The neurologic disorder, promoted by sensorimotor restriction in the context of paresis and by the muscle disorder itself, comprises 4 main components, mostly affecting antagonists to desired movements: the first is spastic dystonia, an unwanted, involuntary muscle activation at rest, in the absence of stretch or voluntary effort; spastic dystonia superimposes on spastic myopathy to cause visible, gradually increasing body deformities; the second is spastic cocontraction, an unwanted, involuntary antagonist muscle activation during voluntary effort directed to the agonist, aggravated by antagonist stretch; it is primarily due to misdirection of the supraspinal descending drive and contributes to reducing movement amplitude; and the third is spasticity, one form of hyperreflexia, defined by an enhancement of the velocity-dependent responses to phasic stretch, detected and measured at rest (another form of hyperreflexia is “nociceptive spasms”, following flexor reflex afferent stimulation, particularly after spinal cord lesions). The 3 main forms of overactivity, spastic dystonia, spastic cocontraction and spasticity, share the same motor neuron hyperexcitability as a contributing factor, all being predominant in the muscles that are more affected by spastic myopathy. The fourth component of the neurologic disorder affects the agonist: it is stretch-sensitive paresis, which is a decreased access of the central command to the agonist, aggravated by antagonist stretch. Improved understanding of the pathophysiology of deforming spastic paresis should help clinicians select meaningful assessments and refined treatments, including the utmost need to preserve muscle tissue integrity as soon as paresis sets in. 相似文献
5.
目的:探讨补阳还五汤重用伸筋草治疗脑梗死后痉挛型偏瘫的作用。方法:收集脑梗死后痉挛型偏瘫患者共88例,分为两组,对照组44例,西医治疗加康复训练和补阳还五汤治疗; 研究组44例,西医治疗加康复训练及补阳还五汤重用伸筋草治疗。比较治疗前后患者患侧上下肢肌张力、临床疗效、NIHSS、日常生活能力Barthel指数以及上下肢运动功能和不良反应发生率。结果:治疗后,两组患者患侧上下肢肌张力≤1级者占比均升高,且研究组中≤1级者占比均高于对照组,组间比较有统计学意义(P<0.05)。两组临床疗效等级分布和总有效率比较,差异有统计学意义(P<0.05)。治疗后两组患者NIHSS评分均降低,且研究组NIHSS评分低于对照组,治疗后两组患者Barthel指数和患侧上下肢FMA评分均升高,且研究组均高于对照组,组间比较有统计学意义(P<0.05)。两组不良反应发生率比较,差异无统计学意义(P>0.05)。结论:补阳还五汤重用伸筋草能够显著降低患者患侧上下肢肌张力,改善临床疗效和神经功能缺损,提高患者日常生活能力和患侧运动功能,且安全性良好。 相似文献
7.
An-Qin Vicky Dong 《Developmental neurorehabilitation》2016,19(5):275-283
Objective: To investigate the effects of ‘remind to move’ treatment on hemiplegic arm function in children with unilateral cerebral palsy (CP). Methodology: Twelve students with unilateral CP aged 6–18 were recruited from a special school and randomly assigned into two groups. Participants in the experimental group underwent a 3-week sensory cueing treatment followed by a 3-week sham treatment. Participants in the waitlist group completed the sham treatment first followed by the sensory-cueing treatment. There was a 4-week washout period between treatments. Results: Both functional hand use and arm impairment level significantxly improved after the 3-week sensory cueing treatment for the combined sample between groups. However, no significant carryover effects were found for either treatment. Conclusion: Three weeks of ‘remind to move’ treatment is useful in improving hemiplegic arm function and quantity of hand use in children with unilateral CP but the long-term carryover effect requires further investigation. 相似文献
8.
目的研究良肢体摆放与肢体功能运动对脑卒中偏瘫患者肢体并发症的影响。方法选取2018年8月-2020年10月我院接收的脑卒中偏瘫患者66例,随机分为对照组和观察组,各33例。对照组按常规护理。观察组早期进行良肢体摆放与肢体功能运动。比较两组Fugl-Meyer运动功能评分、并发症情况。结果观察组并发症总发生率为12.12%,低于对照组的39.39%(P<0.05)。两组护理前Fugl-Meyer运动功能评分比较差异无统计学意义(P>0.05);观察组护理半个月、1个月、3个月、6个月Fugl-Meyer运动功能评分高于对照组(P<0.05)。结论在脑卒中偏瘫患者护理中施予良肢体摆放与肢体功能运动,能够明显改善患者Fugl-Meyer运动功能,并减少各类并发症的发生。 相似文献
9.
目的:本次研究分析在脑卒中后偏瘫患者护理中采用神经内科护理对患者预后效果的观察。方法:本次研究样本选取莒南县中医医院100例脑卒中后偏瘫患者,研究时间从2018年3月-2019年3月,按照护理方式进行对比,试验组患者采用神经内科护理,对照组患者采用常规护理,对比两组患者护理结果。结果:对比两组患者肢体运动功能评分,分析得知,试验组患者出院后肢体功能评分明显较高,两组对比存在统计学标准(P<0.05);对比两组患者日常生活能力量表(Activities of Daily Living,ADL)评分,分析得知,试验组患者出院后ADL评分明显较高,两组对比存在统计学标准(P<0.05);对比两组患者预后生活质量评分,分析得知,试验组患者预后生活质量评分较高,两组对比符合统计学标准(P<0.05)。结论:通过此次研究得知,在脑卒中后偏瘫患者护理中采用神经内科护理,能对患者肢体功能与神经功能进行明显改善,还能进一步提高患者生活质量。 相似文献
10.
洪媛 《中国卫生标准管理》2020,(8):52-54
目的探讨全髋关节置换术后早期康复在股骨颈骨折合并偏瘫患者中的应用效果。方法选取2017年2月-2019年2月本院老年偏瘫侧股骨颈骨折患者68例。分为研究组和对照组,对照组采用常规偏瘫康复,研究组则采用术后早期康复,对比两组患者各项结果。结果术后康复训练3个月和6个月,研究组Harris髋关节评分均高于对照组(P<0.05);研究组Brunnstrom偏瘫运动功能5期以上人数多于对照组(P<0.05);研究组并发症发生率低于对照组(P<0.05),且训练后3个月和6个月,两组均未发生假体移位、松动和下沉的情况。研究组生活质量高于对照组(P<0.05)。结论全髋关节置换术后早期康复有利于提高老年股骨颈骨折合并偏瘫患者的康复,提高生活质量。 相似文献