Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo‐vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel–Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro‐caudal polarity and somite patterning during development. To date, only four cases have been reported. The current report aims at further delineating the posterior malformation in three new patients. Three patients from two unrelated families underwent clinical and radiological examination through X‐ray, 3D computed tomography and brain magnetic resonance imaging. After informed consent was obtained, family‐based whole exome sequencing (WES) was performed. Complex vertebral segmentation defects in the cervico‐thoracic spine were observed in all patients. WES led to the identification of the homozygous splicing variant c.240‐4T>G in all subjects. This variant is predicted to result in aberrant splicing of Exon 4. The current report highlights a subtype of cervical spine malformation with major atlo‐axoidal malformation compromising spinal cord integrity. This distinctive mutation‐specific pattern of malformation differs from Klippel–Feil syndrome and broadens the current classification, defining a sub‐type of RIPPLY2‐related skeletal disorder. Of note, the phenotype of one patient overlaps with oculo‐auriculo‐vertebral spectrum disorder.     

复杂胸椎骨折中CT图像三维重建的应用探讨

目的直观立体地显示复杂胸椎骨折的图像，探讨螺旋CT医学图像三维重建在复杂胸椎骨折诊断中的价值及其对手术的指导意义。方法对92例胸椎骨折患者采用螺旋CT进行薄层扫描和三维重建进行诊断。CT扫描全部采用Siemens SOMATOM Sensation16型多排高速螺旋CT机，1．0mm层厚。扫猫所得断层资料通过网络传送至计算机工作站进行处理，采用Window．NT3．51平台上Insisht三维重建软件进行三维重建。结果三维CT图像能够围绕X轴和Z轴任意旋转、切割以从不同角度观察，能够清晰显示复杂的胸椎骨折和狭窄椎管的解剖形态特点。结论三维CT重建在胸椎骨折方面具有很大的临床应用价值，有助于提高脊柱骨折手术的安全性和精确性并对患者预后的估计提供帮助。     

颈椎钩突邻近结构薄层断面与MRI对照研究

目的阐明颈椎钩突在薄层断面和MRI断面图像上与周围结构的毗邻关系,为颈椎退行性疾病提供影像学诊断依据。方法选取5例中国数字化可视人体（CVH）数据集中C3-C7椎体上缘清楚显示钩突的薄层断面图像,观察并测量钩突与邻近的椎动脉和颈神经的位置关系,选择对应平面的MRI断面图像对照分析。结果CVH数据集的薄层断面清晰显示颈椎钩突及其周围结构,在断面上测量并得出钩突与颈神经、钩突与椎动脉的距离的平均值,MRI清楚显示颈椎钩突及其邻近结构。结论将CVH数据集中的颈椎钩突平面的薄层断面与对应的MRI图像进行对照研究,可为颈椎病的影像学诊断和治疗提供形态学参考。     

Different roles of arteriosclerosis in the rupture of intracranial dissecting aneurysms

AIMS: Although intracranial dissecting aneurysm (IDA) is a newly described variant of the brain aneurysms that affects mainly the vertebrobasilar arterial system, its pathogenesis remains obscure. We aimed to clarify the role of arteriosclerosis in the pathogenesis of IDA based on histopathological findings in seven autopsy cases of IDA. METHODS AND RESULTS: All cases exhibited systemic hypertension or left ventricular hypertrophy. Macroscopically, all cases exhibited subarachnoid haemorrhage. Two types of dissection were recognized in the vertebral artery. Six of seven IDA cases showed a widespread disruption of the entire thickness of the arterial wall with the formation of a dilated pseudoaneurysm, which consisted of thin adventitia (arterial wall disruption type). Medial disruption of the arterial wall and subadventitial dissecting haemorrhage were also found, resulting in the formation of a false lumen and stenosis of the 'true' lumen of the artery. However, these lesions were connected to the site of rupture of the entire arterial wall. Within 1 day after onset of IDA, the autopsy cases showed formation of fibrin thrombus, marked leucocyte infiltration and necrosis of the arterial wall at the site of the lesion. Cases that survived more than 1 week showed smooth muscle cell proliferation, macrophage accumulation and lymphocytic infiltration in the lesions. These cases showed no atherosclerotic plaque, but non-atherosclerotic fibrocellular intima. The thickness of intima and media was significantly less in the vertebral artery of IDA patients than that of non-IDA patients with systemic hypertension. On the other hand, the remaining case showed severe atherosclerosis with haemorrhage into the lipid core without connection to the arterial lumen (intra-atheromatous plaque haemorrhage type). However, unusual arterioles and neovascularization of the intra-and peri-arterial walls were observed. CONCLUSIONS: Our results suggest that disruption of the entire arterial wall may be a critical event in the development of IDA and result in the medial disruption and subadventitial haemorrhage. Non-atheromatous intima might function as a protective factor in arterial wall disruption. On the other hand, atherosclerosis may predispose to intra-atheromatous plaque haemorrhage type of IDA through intramural haemorrhage originating from the newly formed vessels.     

微创DHS内固定与传统DHS内固定治疗老年股骨粗隆间骨折比较研究

目的:对微创动力髋螺钉(dynamic hip screw,DHS)内固定和传统DHS内固定治疗老年股骨粗隆间骨折的效果进行比较.方法:将91例老年股骨粗隆间骨折患者随机分为两组,传统组46例采用传统方式置入内固定物治疗,微创组45例采用微创方式置入内固定物.对两组手术创伤大小、术后并发症、骨折愈合及功能恢复情况进行比较.主要通过考察手术切口长度、出血量、输血量、血红蛋白下降幅度、术后术区肢体肿胀情况、血沉变化等来反映手术创伤大小.结果:两组手术创伤差异有统计学意义,传统组大于微创组(P＜0.05).微创组有2例复位不良,传统组有3例复位不良,两组均无深部血肿发生.传统组围手术期死亡2例,其余患者均顺利出院,获12～30个月随访,平均17.1个月.两组各有1例在随访期间死于其它内科疾病,其余骨折均获愈合.术后平均骨折愈合时间微创组3.6个月,传统组3.8个月.术后1年髋关节功能优良率微创组84.1%,传统组79.1%,两组差异无统计学意义(P＞0.05).结论:微创DHS内固定治疗老年股骨隆间骨折,手术创伤小,有利于围手术期恢复和髋关节功能康复.     

Trabecular Shear Stresses Predict <Emphasis Type="Italic">In Vivo</Emphasis> Linear Microcrack Density but not Diffuse Damage in Human Vertebral Cancellous Bone

Linear microcracks and diffuse damage (staining over a broad region) are two types of microscopic damage known to occur in vivo in human vertebral trabecular bone. These damage types might be associated with vertebral failure. Using microcomputed tomography and finite element analysis for specimens of cancellous bone, we estimated the stresses in the trabeculae of human vertebral tissue for inferosuperior loading. Microdamage was quantified histologically. The density of in vivo linear microcracks was, but the diffuse damage area was not, related to the estimates of von Mises stress distribution in the tissue. In vivo linear microcrack density increased with increasing coefficient of variation of the trabecular von Mises stress and with increasing average trabecular von Mises stress generated per superoinferior apparent axial stress. Nonlinear increase in linear crack density, similar to the increase of the coefficient of variation of trabecular shear stresses, with decreasing bone stiffness and bone volume fraction suggests that damage may accumulate rather rapidly in diseases associated with low bone density due to the dramatic increase of shear stresses in the tissue. © 2003 Biomedical Engineering Society. PAC2003: 8719Rr, 8719Xx, 8759Ls, 8759Fm, 8710+e     

骨钉和脱钙骨在骨创伤和骨缺损中的应用

目的：探讨同种异体冻干骨钉固定关节内骨折和脱钙骨移植治疗骨缺损的实用价值。方法：应用骨钉治疗关节内骨折７例，其中股骨头骨折４例，距骨骨折１例，内踝骨折２例；应用脱钙骨皮质骨条、松质骨粒移植治疗四肢骨折骨不连６例、骨良性病变切除术后骨缺损６例。结果：术后随访３～１２个月，骨钉固定者８个月后骨钉与宿主骨融合，脱钙骨皮质骨条和松质骨粒植骨者２～６个月愈合，无一例发生免疫排斥反应，近期效果满意。结论：认为骨钉为临床治疗关节内骨折提供了一种新的内固定材料，避免再次手术取内固定物，脱钙骨皮质骨条或骨粒适宜于骨不连和骨缺损的填充植骨治疗。     

前路经寰枢关节螺钉内固定术的临床解剖学研究

目的:为前路经寰枢关节螺钉内固定术提供临床解剖学依据。方法:在100对中国成人干燥寰枢椎配对标本上,对与临床前路经寰枢关节螺钉内固定术相关的数据进行解剖学测量。结果:前路经寰枢关节螺钉内固定术冠状面上螺钉植入最小外偏角(5.5±2.0)°(0°～13.0°),最大外偏角(23.6±2.1)°(17.5°～32.5°),矢状面上螺钉植入最小后倾角(14.9±2.6)°(9.0°～27.0°),最大后倾角(25.6±2.5)°(17.5°～33.5°),内侧钉道距离(16.58±1.49)mm(13.78～21.86mm),外侧钉道距离(26.44±1.75)mm(21.81～33.78mm)。结论:前路经寰枢关节螺钉内固定术,16～26mm长度的螺钉,外倾5°～23°、后倾15°～26°方向拧入是安全的。     

标准位X线片上胸腰椎椎弓根轴线的放射学研究

目的:研究标准正位X线片上T9～L5椎弓根轴线的放射学表现。方法:10具T9～L5脊柱标本,解剖成单个椎体。直视下沿椎弓根轴线置入导针。测量分析下列数据:标准侧位X线片显示导针达到椎体后壁及椎弓根中段时,标准正位X线片导针在椎弓根投影内的距离与椎弓根投影最大横径的百分比。另选4具T9～L5脊柱标本,根据上述数据,X线分步监测椎弓根螺钉植入。结果:标准正位X线片导针位于椎弓根中段时的百分比为(49.16±1.84)%～(51.83±2.53)%,各节段及左右侧椎弓根差异无统计学意义(P>0.05);导针位于椎体后壁时的百分比为(61.13±6.09)%～(74.68±6.13)%,左右椎弓根之间、T10￣T12之间、T9与L1￣L5之间差异分别无统计学意义(P>0.05),T10￣12与T9、L1￣5差异有统计学意义(P<0.001)。植入72枚螺钉,68枚位于椎弓根中心,4枚穿破椎弓根,穿破率5.56%。结论:标准正位X线片导针在椎弓根投影内的比值能间接表达椎弓根轴线,可为经椎弓根手术确定正确的进针轨道提供一种参考。     

股骨远端骨折两种固定方法对比研究

目的 对比应用逆行交锁髓内钉(GSH)和动力髁螺钉(DCS)内固定治疗股骨远端骨折的效果.方法 采用回顾性研究方法对我院自2000年8月～2004年10月治疗的54例股骨远端骨折病例进行对照研究,按A0分类:A1型17例,A2型14例,A3型11例,B1型2例,C1型6例,C2型3例,C3型1例.其中,DCS内固定30例,GSH固定24例.分组统计手术时间,出血量,骨折愈合时间,并发症,膝关节功能.结果 所有病例经5月～2年随访,平均9个月;骨折愈合时间为4.6月(4～9月).DCS固定组平均手术时间1.5小时(1～2.5小时).出血量105 ml(50～200 ml),骨折愈合时间平均4.7月(4～8月),并发症发生5例(发生率16.7%),根据Kolmert膝关节功能评分,优20例,良6例,可4例,优良率为86.6%.GSH固定组手术时间1.8小时(1.5～3.5小时).术中出血量平均120 ml(100～250 ml),平均骨折愈合时间5.1个月(4.5～9个月),并发症发生5例(发生率28%),根据Kolmert膝关节功能评分标准,优15例,良7例,可2例,优良率为91.7%.两组比较,结果无显著差异(P＞0.05) 结论 逆行带锁髓内钉(GSH)及动力髁螺钉(DCS)均是治疗股骨远端骨折的较好方法,但各有其最佳适应症.选择好适应症以及术者技术熟练有利于骨折愈合及关节功能恢复.