后路枕骨髁螺钉技术研究进展

正枕骨、寰椎和枢椎共同构成了枕颈部活动的结构功能单位,即枕颈交界区~([1-2])。炎症、创伤、肿瘤及畸形等因素会导致枕颈交界区失稳,从而引起颈脊髓或神经根的损伤、麻痹及难以忍受的疼痛,甚至危及生命~([3-4])。后路内固定融合技术是治疗枕颈部失稳的重要手段,目前常用术式为枕骨螺钉技术,该技术较钢丝固定技术有更好的生物力学稳定     

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome

Polydactyly and syndactyly are digital abnormalities in limb‐associated birth defects usually caused by genetic disorders. In this study, a five‐generation Chinese pedigree was found with triphalangeal thumb polysyndactyly syndrome (TPTPS), showing an autosomal dominant pattern of inheritance. We utilized linkage analysis and whole genome sequencing (WGS) for the genetic diagnosis of this pedigree. Linkage analysis was performed using a genome‐wide single nucleotide polymorphism (SNP) chip and three genomic regions were identified in chromosomes 2, 6, and 7 with significant linkage signals. WGS discovered a copy number variation (CNV) mutation caused by a large duplication region at the tail of chromosome 7 located in exons 1–5 of the LMBR1 gene, including the zone of polarizing activity regulatory sequence (ZRS), with a length of approximately 180 kb. A real‐time polymerase chain reaction (PCR) assay confirmed the duplication. The findings of our study supported the notion that large duplications including the ZRS caused TPTPS. Our study showed that linkage analysis in combination with WGS could successfully identify the disease locus and causative mutation in TPTPS, which could help elucidate the molecular mechanisms and genotype–phenotype correlations in polydactyly.     

双微型锁定钢板治疗尺骨鹰嘴骨折的疗效观察

目的:探讨双微型锁定钢板治疗尺骨鹰嘴骨折的临床疗效。方法:自2017年3月至2020年5月,采用双微型锁定钢板治疗19例尺骨鹰嘴骨折患者,其中男12例,女7例;年龄20~75(40.50±7.62)岁;左侧10例,右侧9例。19例患者均为新鲜闭合骨折且不合并尺骨冠状突骨折、肘关节脱位等损伤。记录患者骨折愈合时间及并发症情况,并于术前、术后12个月采用Mayo肘关节功能评分标准(Mayo elbow performance score,MEPS)进行临床疗效评价。结果:19例患者术后均获得随访,时间12~17(13.51±3.17)个月。术后所有骨折获得骨性愈合,时间2~6(3.77±1.24)个月,未发生内固定断裂、螺钉松动、感染、内固定激惹、异位骨化、肘关节僵硬等并发症。术后12个月患侧肘关节MEPS评分(91.26±3.87)分与术前(56.18±9.56)分比较差异有统计学意义(P0.05);按照Mayo肘关节功能评分标准,结果优11例,良7例,中1例。结论:采用双微型锁定钢板治疗尺骨鹰嘴骨折,手术切口小,骨折固定可靠,术后可早期行肘关节功能锻炼,术后内固定对皮肤激惹小,肘关节功能恢复满意,是一种可靠的固定方法。     

颈腰综合征的诊断与治疗进展

椎管狭窄在解剖学上表现为椎管容积减少和神经卡压,按病理学分类可分为先天性和特发性[1].前者常因软骨发育不全导致椎弓根长度及间距过短而发生;后者又称为"获得性"椎管狭窄,通常由椎间盘、小关节和黄韧带退行性变导致.椎管狭窄好发于腰椎,其次为颈椎,但胸椎同样可受累,在某些情况下,所有区域可同时受到影响[2].颈腰综合征(串联性椎管狭窄症,TSS)是指颈椎、胸椎和腰椎之间2个及以上区域发生椎管狭窄,同时或先后出现椎管内神经、血管受压,并产生相应临床症状[3].由于TSS常发生上下神经元病变,患者临床症状、体征常与影像学表现不符,易造成漏诊与误诊[4].目前,国内外关于TSS的诊断标准及治疗策略尚未达成一致.如何提高TSS确诊率,哪些区域椎管狭窄需要优先治疗,以及单纯治疗一个区域的椎管狭窄是否能够缓解临床症状等问题目前仍存在争议.本文对近年来国内外TSS的相关研究进行分析,从发生率、临床表现与诊断、治疗方案等方面作如下综述.     

Myositis-specific autoantibodies and their clinical associations in idiopathic inflammatory myopathies: results from a cohort from China

Clinical Rheumatology - The purpose of this study was to determine the incidence of myositis-specific autoantibodies (MSAs) in a cohort of Chinese patients with idiopathic inflammatory myopathies...     

Association of anti-NXP2 antibody with clinical characteristics and outcomes in adult dermatomyositis: results from clinical applications based on a myositis-specific antibody

Clinical Rheumatology - The aim was to study and compare the clinical manifestations, auxiliary examinations, and therapeutic responses in patients with different myositis-specific antibody (MSA)...     

三维重建及3D打印技术在骨盆三维特征测量准确性研究

目的　研究分析尸体骨盆与其三维重建数字化模型及3D打印实体模型的三维特征测量结果差异。 方法　选择1具中年男性骨盆标本,根据骨盆的生理学结构特点在骨盆标本表面选取并固定共计14个特征点,并使用三坐标仪测量并记录特征点的三维坐标;使用CT设备对固定了特征点的骨盆标本进行1.0 mm的断层扫描;使用三维医学图像软件（Delta Medical Studio,DMS）对获取的扫描图像进行三维重建,并记录特征点的三维坐标;使用3D打印设备（熔融沉积成型,FDM）及光固化成型（Stereo Lithography Appearance,SLA）打印三维重建模型,三坐标仪测量记录特征点的三维坐标;通过记录的三维坐标分别计算尸体标本、数字模型、3D打印实体模型的特征点之间的距离及夹角;从最大误差、平均误差、t值验证等角度分析三组数据的误差情况。 结果　三维重建数字化骨盆模型的特征测量距离的平均误差约为0.5 mm,角度平均误差约为0.35 o;3D打印模型相对于骨盆标本的距离测量的平均误差约为0.8~1.1 mm,角度平均误差约为0.4°~0.5°。 结论 三维重建模型和3D打印实体模型对于骨盆术前的参考及测量精度方面具备可靠性,可根据实际需求选择3D打印模型作为骨盆术前规划的参考。     

One-stage human acellular nerve allograft reconstruction for digital nerve defects

Human acellular nerve allografts have a wide range of donor origin and can effectively avoid nerve injury in the donor area. Very little is known about one-stage reconstruction of digital nerve defects. The present study observed the feasibility and effectiveness of human acellular nerve allograft in the reconstruction of 5-cm digital nerve defects within 6 hours after injury. A total of 15 cases of nerve injury, combined with nerve defects in 18 digits from the Department of Emergency were enrolled in this study. After debridement, digital nerves were reconstructed using human acellular nerve allografts. The patients were followed up for 6–24 months after reconstruction. Mackinnon-Dellon static two-point discrimination results showed excellent and good rates of 89%. Semmes-Weinstein monofilament test demonstrated that light touch was normal, with an obvious improvement rate of 78%. These findings confirmed that human acellular nerve allograft for one-stage reconstruction of digital nerve defect after hand injury is feasible, which provides a novel trend for peripheral nerve reconstruction.