NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems ...NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 Deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 Deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3D initiation area as a percentage of the complete movement. The statistical tests of these measures revealed no significant differences between the two participants, possibly suggesting a common underlying motor control strategy. The 3D techniques used in this report effectively characterized arm movements of an individual with NGLY1 deficiency and can be used to provide information to evaluate the effectiveness of genetic, pharmacological, or physical rehabilitation therapies.展开更多
目的本研究拟探究3D打印技术用于人工全髋关节置换术治疗成人髋关节发育不良(developmental dysplasia of the hip,DDH)的临床应用效果。方法纳入2013年1月至2016年6月昆明医科大学第一附属医院骨科Crowe各型成人DDH患者共20例,CroweⅠ...目的本研究拟探究3D打印技术用于人工全髋关节置换术治疗成人髋关节发育不良(developmental dysplasia of the hip,DDH)的临床应用效果。方法纳入2013年1月至2016年6月昆明医科大学第一附属医院骨科Crowe各型成人DDH患者共20例,CroweⅠ型2例,CroweⅡ型2例,CroweⅢ型8例,CroweⅣ型8例。所有患者制造出与实体1∶1的髋关节模型,并制定出合适的手术方案并按方案实施手术。记录患者的一般情况、并发症和患者患髋的功能指标(活动度、疼痛视觉模拟评分、髋关节功能评分)。结果患者平均手术时间为(75.25±20.42)min,下床时间为术后(2.90±0.72)d,平均住院时间为(15.35±5.95)d。患者的髋关节功能评分(harris hip score,HHS)术前平均(51.30±8.02)分,末次随访(86.50±5.85)分,差异有统计学意义(P<0.001);视觉模拟评分(visual analogue scale,VAS)术前为(5.51±1.19)分,末次随访为(1.05±0.88)分,差异有统计学意义(P<0.001)。所有患者均获随访,随访期间未出现关节感染、假体松动、假体脱位、坐骨神经损伤等并发症。结论 3D打印技术治疗髋关节发育不良的患者,特别是CroweⅢ/Ⅳ型患者效果显著。展开更多
目的：探索一种基于MRI图像,建立儿童发育性髋关节脱位髋关节三维模型的方法,为进一步建立有限元模型及分析奠定基础.方法：选择1名18个月大、右侧发育性髋关节脱位女性患儿,利用本院的GE Signa 1.5T超导磁共振扫描仪,术前平卧位检查,...目的：探索一种基于MRI图像,建立儿童发育性髋关节脱位髋关节三维模型的方法,为进一步建立有限元模型及分析奠定基础.方法：选择1名18个月大、右侧发育性髋关节脱位女性患儿,利用本院的GE Signa 1.5T超导磁共振扫描仪,术前平卧位检查,得到骨盆连续水平位T1加权像MRI图像.所得MRI图像经过Mimics10.0、Geomagic Studio 12软件处理后,得到可以进行有限元分析的发育性髋关节脱位髋关节的三维模型.结果：使用MRI图像,经过Mimics10.0、Geomagic Studio 12软件处理,建立了可以进行有限元分析的发育性髋关节脱位髋关节的三维模型.结论：利用对软骨成像较好的MRI图像可有效地建立儿童髋关节脱位髋关节的三维模型,相对于CT图像而言,更加接近儿童髋关节的真实解剖结构,为进一步建立有限元模型和分析奠定基础.展开更多
文摘NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 Deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 Deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3D initiation area as a percentage of the complete movement. The statistical tests of these measures revealed no significant differences between the two participants, possibly suggesting a common underlying motor control strategy. The 3D techniques used in this report effectively characterized arm movements of an individual with NGLY1 deficiency and can be used to provide information to evaluate the effectiveness of genetic, pharmacological, or physical rehabilitation therapies.
文摘目的本研究拟探究3D打印技术用于人工全髋关节置换术治疗成人髋关节发育不良(developmental dysplasia of the hip,DDH)的临床应用效果。方法纳入2013年1月至2016年6月昆明医科大学第一附属医院骨科Crowe各型成人DDH患者共20例,CroweⅠ型2例,CroweⅡ型2例,CroweⅢ型8例,CroweⅣ型8例。所有患者制造出与实体1∶1的髋关节模型,并制定出合适的手术方案并按方案实施手术。记录患者的一般情况、并发症和患者患髋的功能指标(活动度、疼痛视觉模拟评分、髋关节功能评分)。结果患者平均手术时间为(75.25±20.42)min,下床时间为术后(2.90±0.72)d,平均住院时间为(15.35±5.95)d。患者的髋关节功能评分(harris hip score,HHS)术前平均(51.30±8.02)分,末次随访(86.50±5.85)分,差异有统计学意义(P<0.001);视觉模拟评分(visual analogue scale,VAS)术前为(5.51±1.19)分,末次随访为(1.05±0.88)分,差异有统计学意义(P<0.001)。所有患者均获随访,随访期间未出现关节感染、假体松动、假体脱位、坐骨神经损伤等并发症。结论 3D打印技术治疗髋关节发育不良的患者,特别是CroweⅢ/Ⅳ型患者效果显著。
文摘目的：探索一种基于MRI图像,建立儿童发育性髋关节脱位髋关节三维模型的方法,为进一步建立有限元模型及分析奠定基础.方法：选择1名18个月大、右侧发育性髋关节脱位女性患儿,利用本院的GE Signa 1.5T超导磁共振扫描仪,术前平卧位检查,得到骨盆连续水平位T1加权像MRI图像.所得MRI图像经过Mimics10.0、Geomagic Studio 12软件处理后,得到可以进行有限元分析的发育性髋关节脱位髋关节的三维模型.结果：使用MRI图像,经过Mimics10.0、Geomagic Studio 12软件处理,建立了可以进行有限元分析的发育性髋关节脱位髋关节的三维模型.结论：利用对软骨成像较好的MRI图像可有效地建立儿童髋关节脱位髋关节的三维模型,相对于CT图像而言,更加接近儿童髋关节的真实解剖结构,为进一步建立有限元模型和分析奠定基础.
