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成骨不全
    This paper reported the study on amnion collagen of two infants with osteogenesis imperfecta family history.
    本文对两例成骨不全(Osteogenesis imperfecta,OI)家族新生儿的羊膜胶原进行了分析。
    Objective:To introduce the clinical and radiological findings of the tumoral callus in osteogenesis imperfecta and to describe its probable formative mechanism.
    目的:介绍成骨不全并肿瘤样骨痂形成的临床和放射学表现,并试图探讨其形成机制。
    Methods:The clinical radiographic and CT features of 6 patients with tumoral callus of 68 osteogenesis imperfecta were analysed retrospectively.
    方法:对一组68例成骨不全中6例并有肿瘤样骨痂的临床、X线和CT表现进行回顾性分析。
    Results:Among 6 patients with tumoral callus in osteogenesis imperfecta all had the history of multiple fractures of the extremities in childhood and hypertrophic deformity increasingly with tenderness.
    结果:有成骨不全病史的6例肿瘤样骨痂形成者,均有儿童期多次、多处骨折和肢骨局部缓慢增大畸形并有触痛。
    Conclusion:The tumoral callus of osteogenesis imperfecta is an unusual but important finding owing to its ability to mimic a tumor.
    结论:肿瘤样骨痂属成骨不全少见而又很重要的临床和放射学表现,因其颇似肿瘤。
    In the 4 pathological fractures (2 cases were caused by metastatic carcinoma),3 died at 16,18 and 24 months after operation respectively. The remaining one with osteogenesis imperfecta had a good function similar to the health side.
    4例病理骨折,其中3例术后分别存活16个月、18个月、24个月,另1例为成骨不全,术后患肢功能较健侧无差别。
    Materials and methods: The clinical and radiologic manifestations of 68 patients with osteogenesis imperfecta were studied retrospectively.
    材料与方法:对68例成骨不全病人的临床资料和X线图像进行回顾性分析。
    A pedigree investigation was carried out on 372 relatives in five generations of a proband of osteogenesis imperfecta. The results showed that there were 28 patients in the family. 10 of them died from other causes (5 adults and 5 children respectively).
    对成骨不全先证者上溯5代372人进行家系调查,发现该家系共有28例成骨不全,其中已死亡10例(成人、儿童各5例),均非死于本病;
    Methods Retrospective analysis of clinical and radiological diagnosis of hereditary osteogenesis imperfecta was done in 35 surviving patients and 7 deaths in a family.
    方法对一家系健在的35例遗传性成骨不全患者的临床和X线资料及死亡的7例的临床资料进行回顾性分析。
    In this paper, 25 Cases of patients with osteogenesis imperfecta were analysed.
    本文对作者收集的25倒成骨不全进行综合分析。
    Materials and Methods:The radiological features of 68 patients with osteogenesis imperfecta were retrospectively analyzed.
    材料与方法:对68例成骨不全的临床与X线片资料进行回顾性分析。
    Purpose: To Investigate the clinical manifestations and X-ray features of osteogenesis imperfecta.
    目的:探讨成骨不全的临床和X线表现。
    Results There were 133 cases of osteogenesis imperfecta in 4? 489? 692 births with an incidence of 0 30/10?
    结果  5年共监测围产儿44 896 92例 ,先天性成骨不全围产儿 133例 ,发生率为 0 30 /万 ,乡村的发生率为 0 2 6 /万 ,城镇为 0 32 /万 ;
    Osteogenesis imperfecta(OI)is heritable bone fragility,which is inherited as an autosomal dominant trait clinical presentation.
    成骨不全(Osteogenesisimperfecta,OI)是一种由于Ⅰ型胶原形成障碍,导致骨脆性增强为主要症状的 常染色体显性遗传性疾病。
    [Methods] 40 cases of osteogenesis imperfecta were divided into therapeutic group and control group randomly. The therapeutic group has been treated with ossotide infection while the control group with routine methods. After 1~2 periods of treatment, the result of 2 groups were analyzed with method of case-control study.
    方法选择成骨不全症患者40例分成两组,骨肽为治疗组20例,其他方法20例,治疗1、2疗程后,将两组进性对比分析。
    Objective Osteogenesis imperfecta (OI) is a congenital disease of connective tissue of increased bone fragility and low bone mass, most often caused by single amino acid substitution of glycine residues in the collagen, type I, alpha 1 protein (COL1A1)gene or the collagen, type I, alpha 2 protein(COL1A2)gene, encoding type I procollagen chains.
    目的对Ⅰ型胶原α1链蛋白基因(COL1A1基因)进行测序研究,旨在寻找已知或未知的COL1A1基因突变位点,探讨我国成骨不全的发病机制。
    Objective:To explore the X-ray manifestations of osteogenesis imperfecta and improve the diagnostic incidence.
    目的:探讨成骨不全的X线表现,提高对本病的诊断正确率。
    Methods:8 cases of osteogenesis imperfecta were analysed retrospectively.
    方法:回顾性分析了成骨不全的临床X线表现8例。
    [Objective]To explore the application of the intramedullary nails for correction of deformity in the lower limbs and decrease the opportunity of refracture in children with osteogenesis imperfecta.
    [目的]探讨用髓内钉治疗儿童成骨不全严重肢体畸形中的矫形和防止再骨折的作用。
    [Conclusion]Multi-osteotomy and fixed intramedullary nails,can correct the deformity in the lower limbs perfectly and decrease the opportunity of refracture in children with osteogenesis imperfecta,which has been proved to be a reliable method.
    [结论]多段截骨矫形后内置髓内钉治疗儿童成骨不全,对矫正肢体畸形、减少再次骨折机会,效果确实可靠。
 

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