Ⅰ型神经纤维瘤病软骨细胞生物学特性的研究临床医学.doc

Ⅰ型神经纤维瘤病软骨细胞生物学特性的研究临床医学 目录 TOC \o 1-9 \h \z \u 目录 1 正文 1 文1：Ⅰ型神经纤维瘤病软骨细胞生物学特性的研究临床医学 1 1 材料与方法 3 Ⅱ型胶原含量 4 2 结果 6 3 讨 论 7 文2：家族性神经纤维瘤病Ⅱ型1例 9 1 病历摘要 9 2 讨论 9 参考文摘引言： 11 原创性声明（模板） 12 文章致谢（模板） 12 正文 Ⅰ型神经纤维瘤病软骨细胞生物学特性的研究临床医学 文1：Ⅰ型神经纤维瘤病软骨细胞生物学特性的研究临床医学 Biological Features of Chondrocytes Isolated from Patients with Type Ⅰ Neurofibromatosis Abstract：Objective To detect the neurofibromin expression and observe the biological features of the chondrocytes of patients with type Ⅰneurofibromatosis(NF1) and 7 cases of congenital scoliosis and 6 cases of NF1 scoliosis were chosen with the similar age and Cobb growth plate was harvested from the ilia，diced and sequentially digested with of the chondrocytes，and also the specific differentiation indice including type Ⅱ collagen and aggrecan were expression in the two kinds of chondrocytes was detected with immunoprecipitation followed by Western Compared to the chondrocytes of patients with congenital scoliosis，lower level of neurofibromin was expressed in chondrocytes of patients with NF1 scoliosis(the OD value was ± and ± respectively，P＝).The level of type Ⅱ collagen was lower in chondrocytes of patients with NF1 scoliosis(± ng/mgpro vs ± ng/mgpro，P＝)，but the level of aggrecan does not differ between the two groups(± ng/mgpro和± ng/mgpro，P＝).The proliferation rate of the NF1 chondrocytes was higher(± and ±，P＝).Conclusion With the decrease of neurofibromin expression，the NF1 chondrocytes show higher proliferation rate，and there is also functional deficiency in cell differentiation. Key words：neurofibromatosis；scoliosis；neurofibromin；chondrocytes；biological feature 脊柱侧凸是Ⅰ型神经纤维瘤病(type 1 neurofibromatosis，NF1)患者的特征性表现之一，发病率高达20％左右［1］，该类型脊柱侧凸由于其骨骼营养不良性改变和术后假关节发生率高等使 治疗 非常困难。NF1是一种常染色体显性遗传疾病，其典型特征是皮肤咖啡牛奶斑和神经纤维瘤。近年来研究发现，Ⅰ型神经纤维瘤病上述表型可能与神经纤维瘤蛋白功能缺失导致的相关类型细胞功能缺陷有关［2～4］。目前神经纤维瘤蛋白在人软骨细胞中是否表达和NF1患者软骨细胞是否同样存在功能缺陷尚未见报道。本研究在检测NF1软骨细胞中神经纤维瘤蛋白表达的同时，拟对体外NF1软骨细胞的生物学行为进行观察。 1 材料与方法 临床资料 收集两组病例，第1组7 例为先天性脊柱