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1.
A 13-year-old boy who had hemophilia A was reported with pain in the left thigh and hip on walking. He had no history of trauma. Severe hemophilia A is diagnosed with a Factor VIII level of <1 iu/dl. The presumptive diagnosis was that of a spontaneous bleed into the hip joint. Factor VIII mutational analysis revealed a C to G substitution at nucleotide 6683 which results in a cystine change at codon 2194. However, the symptoms persisted and an X-ray demonstrated the presence of an acute on chronic slip of the upper femoral epiphysis. The patient was transferred to the center treating his hemophilia where the hip was pinned in situ under cover with Factor VIII. This case demonstrates the need to be aware of a possible traumatic diagnosis of hip pain in a hemophiliac child with a longstanding history of spontaneous bleeding into joints. 相似文献
2.
We evaluated retrospectively the varying radiographic appearances of 15 solitary lucent epiphyseal lesions occurring in children. Imaging modalities used included plain films, conventional tomography, nuclear scintigraphy, and computed tomography. Forty percent of the lesions (6) were due to osteomyelitis. The remaining lesions included tuberculosis (1), foreign body granuloma (1), chondroblastoma (2), chondromyxoid fibroma (1), enchondroma (1), osteoid osteoma (2), and eosinophilic granuloma (1). Although the radiographic appearances of such lesions may be particularly characteristic, pathologic correlation is frequently necessary. The high incidence of osteomyelitis in our cases emphasizes its importance as a cause for a lucent epiphyseal lesion. 相似文献
3.
Although gross insertions (>20 bp) comprise <1% of disease-causing mutations, they nevertheless represent an important category of pathological lesion. In an attempt to study these insertions in a systematic way, 158 gross insertions ranging in size between 21 bp and approximately 10 kb were identified using the Human Gene Mutation Database (www.hgmd.org). A careful meta-analytical study revealed extensive diversity in terms of the nature of the inserted DNA sequence and has provided new insights into the underlying mutational mechanisms. Some 70% of gross insertions were found to represent sequence duplications of different types (tandem, partial tandem, or complex). Although most of the tandem duplications were explicable by simple replication slippage, the three complex duplications appear to result from multiple slippage events. Some 11% of gross insertions were attributable to nonpolyglutamine repeat expansions (including octapeptide repeat expansions in the prion protein gene [PRNP] and polyalanine tract expansions) and evidence is presented to support the contention that these mutations are also caused by replication slippage rather than by unequal crossing over. Some 17% of gross insertions, all >or=276 bp in length, were found to be due to LINE-1 (L1) retrotransposition involving different types of element (L1 trans-driven Alu, L1 direct, and L1 trans-driven SVA). A second example of pathological mitochondrial-nuclear sequence transfer was identified in the USH1C gene but appears to arise via a novel mechanism, trans-replication slippage. Finally, evidence for another novel mechanism of human genetic disease, involving the possible capture of DNA oligonucleotides, is presented in the context of a 26-bp insertion into the ERCC6 gene. 相似文献
4.
Ossification and pseudoepiphysis formation in the “nonepiphyseal” end of bones of the hands and feet
J. A. Ogden M.D. T. M. Ganey Ph.D. T. R. Light M.D. R. J. Belsole M.D. T. L. Greene M.D. 《Skeletal radiology》1994,23(1):3-13
Metacarpals, metatarsals, and phalanges were studied to assess the developmental morphology of secondary ossification in the nonepiphyseal ends of these bones as well as the formation of the pseudoepiphysis as an epiphyseal ossification variant. Both direct ossification extension from the metaphysis into the epiphysis and pseudoepiphysis formation preceded, and continued to be more mature than, formation and expansion of the classic epiphyseal (secondary) ossification center at the opposite end of each specific bone. Direct metaphyseal to epiphyseal ossification usually started centrally and expanded hemispherically, replacing both physeal and epiphyseal cartilage simultaneously. In contrast, when remnants of physis were retained, while juxtaposed epiphyseal cartilage was replaced, a pseudoepiphysis formed. There were three basic patterns of pseudoepiphysis formation. First, a central osseous bridge extended from the metaphysis across the physis into the epiphysis and subsequently expanded to create a mushroom-like osseous structure. In the second pattern a peripheral osseous bridge formed, creating either an osseous ring or an eccentric bridge between the metaphysis and the epiphysis. In the third pattern, multiple bridging occurred. In each situation the associated remnant physis lacked typical cell columns and was incapable of significantly contributing to the postnatal longitudinal growth of the involved bone. Pseudoepiphyses were well formed by 4–5 years and coalesced with the rest of the bone months of years before skeletal maturation was attained at the opposite epiphyseal end, which ossified in the typical pattern (i.e., formation of a secondary center de novo completely within the cartilaginous epiphysis). This process may also affect the development and appearance of ossification within the longitudinal epiphyseal bracket (delta phalanx). 相似文献
5.
生长期儿童股骨干骨折髓内针内固定的远期观察 总被引:3,自引:0,他引:3
作者从1970~1985年收治生长期儿童股骨干骨折305例,其中切开复位髓内针内固定34例(38处股骨骨折),并进行了5~17年的长期随访观察,发现无1例出现术后早期并发症,12例(占33.3%)出现大粗隆发育受阻的晚期并发症。18例(22处股骨骨折)双下肢等长,13例患肢较健侧长0.8~1.4cm平均1.03cm,1例合并有下肢动脉损伤者出现下肢短缩。作者认为无论采用梅花型髓内针内固定,还是三棱型髓内针内固定都是可行的,但梅花型髓内针内固定有出现大粗隆发育受阻的危险。 相似文献
6.
7.
Juxta-articular hemangioma of long bone 总被引:1,自引:0,他引:1
We report on a rare case of an intraosseous hemangioma involving the proximal tibia in a 70-year-old man. Radiographically,
the lesion was a well-defined osteolytic lesion with marginal sclerosis. The CT images demonstrated a well-defined osteolytic
lesion with partial cortical breakthrough. T1-weighted MR images showed a hypointense lesion, while T2-weighted images revealed
hyperintense areas, with internal, hypointense septa. Gadolinium-enhanced T1-weighted images showed lattice-like enhancement
of the lesion.
Received: 28 December 1999 Revision requested: 3 March 2000 Revision received: 23 May 2000 Accepted: 26 May 2000 相似文献
8.
保留骨骺灭活再植术的实验与临床研究 总被引:1,自引:0,他引:1
目的探讨保留骨骺灭活再植术的可行性。方法在有效大剂量化疗保护下对2例儿童骨肉瘤患者行保留骨骺的灭活再植术。以18只新西兰大白兔为实验对象,行保留骨骺灭活再植术,于术后4、8、12周处死动物,行大体标本、影像学、病理组织学、扫描电镜观察及软骨各层厚度的测量。结果2例患者分别随访36个月和40个月,无复发转移,膝关节屈曲100°和110°。患肢较对侧短1.0cm和1.2cm。实验研究发现保留骨骺灭活再植术的灭活骨与保留的骨骺、灭活骨与截骨断端间术后8周即愈合;保留骨骺软骨钙化层的厚度随时间逐渐增厚,较正常薄;关节软骨面基本保持了正常的形态和结构。结论保留骨骺的灭活再植术为儿童骨肉瘤提供了一种新的保肢手术方法。 相似文献
9.
10.
目的设计一种骨骺生长滑动钢板,在有效固定骨折的同时,又能减轻对骨骼纵向生长的抑制,减少肢体畸形的发生,并通过动物实验进行评估。方法根据青少年股骨髁部的解剖特点设计出适用于青少年儿童股骨髁部骨折的内固定滑动钢板。动物实验选24只健康幼年山羊,8只山羊为正常对照组,余16只为钢板内固定组,其中右后肢采用普通钢板固定,左后肢采用滑动钢板固定。术后1 d,1、2、3、6个月5个时相点对所有山羊双侧股骨进行X线摄片检查,并通过fPAX系统测量左右股骨的长度进行统计学分析。结果正常对照组山羊双侧股骨在5个时相点长度统计学均无显著性差异,钢板内固定组,在术后1 d、1个月双侧股骨长度统计学均无显著性差异,在术后3、6个月双侧股骨长度统计学存在显著性差异,滑动钢板侧股骨长度明显长于普通钢板侧,股骨长度术后1、2、3、6个月分别与术后1 d增长的数值进行比较分析,普通钢板侧和正常对照组右侧股骨长度存有显著性差异,滑动钢板侧和正常对照组左侧股骨长度无显著性差异。结论本组实验证实滑动钢板在动物体内随骨骺的生长过程中可自动延长,符合发育期青少年儿童骨骺生长的生理特点,可进行进一步的研究。 相似文献