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21.
目的探讨GSS椎弓根螺钉系统结合椎间融合器治疗重度腰椎滑脱的临床疗效。方法对32例Ⅱ度以上腰椎滑脱患者采用后路GSS椎弓根螺钉系统结合椎间融合器治疗,比较手术前后症状改善情况,了解复位程度及骨性融合情况。结果 32例均获随访,时间6~42个月。30例患者临床表现完全消失或基本缓解,4~6个月后骨性融合;2例患者随访6个月时未完全骨性融合,仍遗有下肢疼痛及麻木,经对症治疗后症状减轻。32例患者复位程度达80%以上。结论应用GSS椎弓根螺钉系统结合椎间融合器可使滑脱腰椎获得有效复位和坚强固定,提高植骨融合率,患者可进行早期功能锻炼,临床疗效满意。 相似文献
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目的 探讨谷胱甘肽合成酶缺乏症(GSSD)的临床及遗传学特点.方法 对2014年1至12月西安市儿童医院内分泌遗传代谢科临床诊断的2例5-羟脯氨酸尿症的患儿进行临床特点分析,采用目标序列捕获测序方法,对患儿进行谷胱甘肽合成酶(GSS)基因分析,再经聚合酶链式反应(PCR)对高危突变基因进行验证,最终确诊为GSSD;并进行相关临床特点总结及基因学分析.结果 GSSD临床表现为代谢性酸中毒、黄疸、溶血性贫血,GSS基因检测出致病突变,其中1例为复合杂合突变(E5 c.491G>A和E10 c.847C>T),1例为纯合突变(E5 c.491G>A).结论 E5 c.491G>A基因突变可能为GSSD热点基因突变. 相似文献
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《Expert opinion on therapeutic patents》2013,23(9):1287-1290
Prion diseases or transmissible spongiform encephalopathy are a class of neurodegenerative disease that remain rare, but could potentially affect large numbers of people if the possibility of food-borne transmission is true. The disease involves the conversion of a normal brain glycoprotein into a protease resistant form that is difficult to break down. Specifically identifying this version of the protein has been an aim of current research, with the possibility that this could aid differential diagnosis of these diseases. Techniques that can rapidly detect the disease in post-mortem tissue are well-established, but a test that identifies the abnormal protein in tissues of live patients is an essential requirement for any potential treatment. Peptides offer a novel way of identifying the abnormal protein and could serve as potential tools for tasks related to diagnosis and treatment of prion diseases. 相似文献
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后路GSS内固定治疗胸腰椎骨折67例 总被引:1,自引:0,他引:1
目的观察通用脊柱内固定系统(GSS)治疗胸腰椎骨折的疗效。方法对67例胸腰椎不稳定骨折行GSS复位内固定治疗,术后做X线及CT检查,评价手术疗效并进行随访。结果随访6~32个月,平均22个月,67例骨折均愈合,术后伤椎的高度和脊椎cobb角均恢复满意,神经功能术前Frankel分级B~D级均有1~2级改善。结论 GSS内固定治疗胸腰椎骨折具有操作简单、固定确切、疗效显著等优点,是目前治疗胸腰段脊柱骨折较好的方法之一。 相似文献
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目的观察GSS(General Spinesystem)联合自体切除椎板及棘突椎间植骨治疗腰椎滑脱症的疗效。方法对42例腰椎滑脱症患者施行GSS联合自体切除椎板及棘突椎间植骨手术的临床资料进行回顾性分析。结果随访6月~2年,临床优良率达92.8%,术后6~12个月摄片示40例获得骨性融合,融合率达到95.2%,无固定螺钉松动及再滑脱现象。结论应用GSS脊柱内固定系统和自体切除椎板及棘突椎间植骨治疗腰椎滑脱症是一种操作简单、复位满意、固定力强、植骨融合率高的治疗方法。 相似文献
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【摘要】目的观察GSS型脊柱内固定器治疗胸腰椎骨折伴脊髓损伤的临床疗效。方法采用GSS型内固定系统治疗胸腰椎骨折伴脊髓损伤患者82例。结果82例患者骨折椎体前、后缘高度由术前的42%和56%恢复到术后的89%和95%,Cobb’s角由术前平均25.3°矫正到术后平均3.1°;术后随访8~24个月,8例完全性瘫痪患者中4例有1-2级恢复,66例不完全性瘫痪患者有1~3级恢复。结论GSS型内固定系统可满意复位伤椎,且固定确切牢固,能有效起到脊髓减压的作用,疗效满意。 相似文献
29.
Vladimir Kepe Bernardino Ghetti Martin R. Farlow Mara Bresjanac Karen Miller Sung-Cheng Huang Koon-Pong Wong Jill R. Murrell Pedro Piccardo Francine Epperson Grega Repovš Lojze M. Smid Andrej Petrič Prabha Siddarth Jie Liu Nagichettiar Satyamurthy Gary W. Small Jorge R. Barrio 《Brain pathology (Zurich, Switzerland)》2010,20(2):419-430
In vivo amyloid PET imaging was carried out on six symptomatic and asymptomatic carriers of PRNP mutations associated with the Gerstmann–Sträussler–Scheinker (GSS) disease, a rare familial neurodegenerative brain disorder demonstrating prion amyloid neuropathology, using 2-(1-{6-[(2-[F-18]fluoroethyl)(methyl)amino]-2-naphthyl}ethylidene)malononitrile ([F-18]FDDNP). 2-Deoxy-2-[F-18]fluoro-d -glucose PET ([F-18]FDG) and magnetic resonance imaging (MRI) scans were also performed in each subject. Increased [F-18]FDDNP binding was detectable in cerebellum, neocortex and subcortical areas of all symptomatic gene carriers in close association with the experienced clinical symptoms. Parallel glucose metabolism ([F-18]FDG) reduction was observed in neocortex, basal ganglia and/or thalamus, which supports the close relationship between [F-18]FDDNP binding and neuronal dysfunction. Two asymptomatic gene carriers displayed no cortical [F-18]FDDNP binding, yet progressive [F-18]FDDNP retention in caudate nucleus and thalamus was seen at 1- and 2-year follow-up in the older asymptomatic subject. In vitro FDDNP labeling experiments on brain tissue specimens from deceased GSS subjects not participating in the in vivo studies indicated that in vivo accumulation of [F-18]FDDNP in subcortical structures, neocortices and cerebellum closely related to the distribution of prion protein pathology. These results demonstrate the feasibility of detecting prion protein accumulation in living patients with [F-18]FDDNP PET, and suggest an opportunity for its application to follow disease progression and monitor therapeutic interventions. 相似文献
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Bionka M. Huisstede Manon S. Randsdorp Janneke van den Brink Thierry P.C. Franke Bart W. Koes Peter Hoogvliet 《Archives of physical medicine and rehabilitation》2018,99(8):1609-1622.e10