尼曼-匹克病C型(Niemann-Pick disease type C,NPC)是常染色体隐性遗传的罕见病,以肝脾肿大和神经系统功能障碍为主要表现。本文报告1例35岁女性患者,因“渐进性双手抖动、动作笨拙23年,精神异常14年”就诊。患者12岁起病,因检查提示铜...尼曼-匹克病C型(Niemann-Pick disease type C,NPC)是常染色体隐性遗传的罕见病,以肝脾肿大和神经系统功能障碍为主要表现。本文报告1例35岁女性患者,因“渐进性双手抖动、动作笨拙23年,精神异常14年”就诊。患者12岁起病,因检查提示铜代谢指标异常及脾肿大被误诊为肝豆状核变性,口服青霉胺及苯海索症状改善。至21岁时出现精神异常,予以青霉胺与利培酮治疗后症状控制。本次入院发现患者虽有神经精神症状、脾大及铜生化异常,但始终未见角膜色素环,颅脑MRI亦缺乏特征性改变,最终经基因检测及骨髓细胞学检查确诊为NPC。口服麦格司他胶囊及利培酮,随访1年病情稳定。本病例提示,对于以神经精神症状起病并伴有脾肿大的患者,需高度警惕NPC的可能,避免误诊。展开更多
[目的]观察复元填髓方治疗小脑共济失调综合征患者的疗效。[方法]纳入2024年2月至10月温州市中西医结合医院门诊就诊的小脑共济失调综合征患者29例,予以复元填髓方汤剂治疗12周,对比治疗前后患者国际合作共济失调量表(International Coo...[目的]观察复元填髓方治疗小脑共济失调综合征患者的疗效。[方法]纳入2024年2月至10月温州市中西医结合医院门诊就诊的小脑共济失调综合征患者29例,予以复元填髓方汤剂治疗12周,对比治疗前后患者国际合作共济失调量表(International Cooperative Ataxia Scale,ICARS)、共济失调等级量表(Scale for the Assessment and Rating of Ataxia,SARA)、日常生活活动能力(Activities of Daily Living,ADL)评分及中医证候量表的变化。[结果]共29例患者入组,其中27例完成12周疗程(脱落2例),治疗后患者ICARS评分缓解率为55.6%,维持率为25.9%;治疗前ICARS评分为(35.85±12.90)分,治疗后为(34.33±13.10)分,差异有统计学意义(P<0.05);SARA评分及中医症候量表评分均显著降低(P<0.05)。治疗期间,患者不良反应率为11.1%,其中腹泻3例。[结论]复元填髓方能够改善小脑共济失调综合征患者的共济失调症状以及肾虚髓亏证候。展开更多
Prognostics and health management （PHM） significantly improves system availability and reliability, and reduces the cost of system operations. Design for testability （DFT） developed concurrently with system design...Prognostics and health management （PHM） significantly improves system availability and reliability, and reduces the cost of system operations. Design for testability （DFT） developed concurrently with system design is an important way to improve PHM capability. Testability modeling and analysis are the foundation of DFT. This paper proposes a novel approach of testability modeling and analysis based on failure evolution mechanisms. At the component level, the fault progression-related information of each unit under test （UUT） in a system is obtained by means of failure modes, evolution mechanisms, effects and criticality analysis （FMEMECA）, and then the failure-symptom dependency can be generated. At the system level, the dynamic attributes of UUTs are assigned by using the bond graph methodology, and then the symptom-test dependency can be obtained by means of the functional flow method. Based on the failure-symptom and symptom-test dependencies, testability analysis for PHM systems can be realized. A shunt motor is used to verify the application of the approach proposed in this paper. Experimental results show that this approach is able to be applied to testability modeling and analysis for PHM systems very well, and the analysis results can provide a guide for engineers to design for testability in order to improve PHM performance.展开更多
文摘尼曼-匹克病C型(Niemann-Pick disease type C,NPC)是常染色体隐性遗传的罕见病,以肝脾肿大和神经系统功能障碍为主要表现。本文报告1例35岁女性患者,因“渐进性双手抖动、动作笨拙23年,精神异常14年”就诊。患者12岁起病,因检查提示铜代谢指标异常及脾肿大被误诊为肝豆状核变性,口服青霉胺及苯海索症状改善。至21岁时出现精神异常,予以青霉胺与利培酮治疗后症状控制。本次入院发现患者虽有神经精神症状、脾大及铜生化异常,但始终未见角膜色素环,颅脑MRI亦缺乏特征性改变,最终经基因检测及骨髓细胞学检查确诊为NPC。口服麦格司他胶囊及利培酮,随访1年病情稳定。本病例提示,对于以神经精神症状起病并伴有脾肿大的患者,需高度警惕NPC的可能,避免误诊。
文摘[目的]观察复元填髓方治疗小脑共济失调综合征患者的疗效。[方法]纳入2024年2月至10月温州市中西医结合医院门诊就诊的小脑共济失调综合征患者29例,予以复元填髓方汤剂治疗12周,对比治疗前后患者国际合作共济失调量表(International Cooperative Ataxia Scale,ICARS)、共济失调等级量表(Scale for the Assessment and Rating of Ataxia,SARA)、日常生活活动能力(Activities of Daily Living,ADL)评分及中医证候量表的变化。[结果]共29例患者入组,其中27例完成12周疗程(脱落2例),治疗后患者ICARS评分缓解率为55.6%,维持率为25.9%;治疗前ICARS评分为(35.85±12.90)分,治疗后为(34.33±13.10)分,差异有统计学意义(P<0.05);SARA评分及中医症候量表评分均显著降低(P<0.05)。治疗期间,患者不良反应率为11.1%,其中腹泻3例。[结论]复元填髓方能够改善小脑共济失调综合征患者的共济失调症状以及肾虚髓亏证候。
基金the National Natural Science Foundation of China(No.51175502)
文摘Prognostics and health management （PHM） significantly improves system availability and reliability, and reduces the cost of system operations. Design for testability （DFT） developed concurrently with system design is an important way to improve PHM capability. Testability modeling and analysis are the foundation of DFT. This paper proposes a novel approach of testability modeling and analysis based on failure evolution mechanisms. At the component level, the fault progression-related information of each unit under test （UUT） in a system is obtained by means of failure modes, evolution mechanisms, effects and criticality analysis （FMEMECA）, and then the failure-symptom dependency can be generated. At the system level, the dynamic attributes of UUTs are assigned by using the bond graph methodology, and then the symptom-test dependency can be obtained by means of the functional flow method. Based on the failure-symptom and symptom-test dependencies, testability analysis for PHM systems can be realized. A shunt motor is used to verify the application of the approach proposed in this paper. Experimental results show that this approach is able to be applied to testability modeling and analysis for PHM systems very well, and the analysis results can provide a guide for engineers to design for testability in order to improve PHM performance.
