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
目的观察术前人工智能(artificial intelligence,AI)重建技术辅助全髋关节置换术(total hip arthroplasty,THA)治疗成人发育性髋关节发育不良(developmental dysplasia of the hip,DDH)的疗效。方法分析2020年4月至2024年4月空军军医大...目的观察术前人工智能(artificial intelligence,AI)重建技术辅助全髋关节置换术(total hip arthroplasty,THA)治疗成人发育性髋关节发育不良(developmental dysplasia of the hip,DDH)的疗效。方法分析2020年4月至2024年4月空军军医大学第二附属医院行THA治疗的88例成人DDH患者资料,按据术前规划方式分组。采用AI重建技术术前规划的46例患者纳入观察组,男12例,女34例;年龄39~75岁,平均(51.22±10.30)岁。采用传统影像学评估和经验性术前规划的42例患者纳入对照组,男11例,女31例;年龄42~75岁,平均(52.03±9.88)岁。比较两组手术相关指标、术后恢复指标、影像学指标、手术前后Harris髋关节评分与简明健康状况调查问卷-36(short form-36 health survey,SF-36)及并发症发生情况。结果观察组随访时间6~34个月,平均(19.22±5.72)个月;对照组随访时间9~33个月,平均(19.70±4.84)个月。观察组的手术时间、术中出血量、术后首次下床时间、住院时间、脱离助行器时间均少于对照组(P<0.05),髋臼杯、股骨柄假体匹配率均高于对照组(P<0.05)。观察组的术后双下肢长度差小于对照组(P<0.05),两组髋臼外展角、髋臼前倾角差异无统计学意义(P>0.05)。两组术后6个月Harris评分、SF-36评分均高于术前(P<0.05),且观察组高于对照组(P<0.05)。观察组术后假体脱位、切口感染、术区血肿、假体松动总发生率低于对照组(P<0.05)。结论相较传统术前规划,采用AI重建技术进行术前规划辅助THA治疗成人DDH,可提高手术精确性、缩短手术时间及术后恢复周期、改善术后功能及生活质量,且降低并发症发生率,具有较高的临床应用价值。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
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.
文摘目的观察术前人工智能(artificial intelligence,AI)重建技术辅助全髋关节置换术(total hip arthroplasty,THA)治疗成人发育性髋关节发育不良(developmental dysplasia of the hip,DDH)的疗效。方法分析2020年4月至2024年4月空军军医大学第二附属医院行THA治疗的88例成人DDH患者资料,按据术前规划方式分组。采用AI重建技术术前规划的46例患者纳入观察组,男12例,女34例;年龄39~75岁,平均(51.22±10.30)岁。采用传统影像学评估和经验性术前规划的42例患者纳入对照组,男11例,女31例;年龄42~75岁,平均(52.03±9.88)岁。比较两组手术相关指标、术后恢复指标、影像学指标、手术前后Harris髋关节评分与简明健康状况调查问卷-36(short form-36 health survey,SF-36)及并发症发生情况。结果观察组随访时间6~34个月,平均(19.22±5.72)个月;对照组随访时间9~33个月,平均(19.70±4.84)个月。观察组的手术时间、术中出血量、术后首次下床时间、住院时间、脱离助行器时间均少于对照组(P<0.05),髋臼杯、股骨柄假体匹配率均高于对照组(P<0.05)。观察组的术后双下肢长度差小于对照组(P<0.05),两组髋臼外展角、髋臼前倾角差异无统计学意义(P>0.05)。两组术后6个月Harris评分、SF-36评分均高于术前(P<0.05),且观察组高于对照组(P<0.05)。观察组术后假体脱位、切口感染、术区血肿、假体松动总发生率低于对照组(P<0.05)。结论相较传统术前规划,采用AI重建技术进行术前规划辅助THA治疗成人DDH,可提高手术精确性、缩短手术时间及术后恢复周期、改善术后功能及生活质量,且降低并发症发生率,具有较高的临床应用价值。
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。
