The coexistence of neurogenic and myogenic features in scapuloperoneal syndro me is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be ...The coexistence of neurogenic and myogenic features in scapuloperoneal syndro me is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a var iety of disorders affecting mainly the muscular and adipose tissues and, more re cently, with autosomal recessive Charcot- Marie- Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affecte d in primary LMNA myopathy. Our observations further support the marked intrafam ilial and interfamilial phenotypic heterogeneity associated with lamin A/C defec ts.展开更多
目的观察骨髓间充质干细胞移植于大鼠离断坐骨神经断端治疗失神经肌肉萎缩的效果。方法采用贴壁筛选法分离培养大鼠骨髓间充质干细胞。选取健康Sprauge-Dawley大鼠36只,切断左侧后肢坐骨神经制备神经缺损模型,随机分为观察组和对照组,...目的观察骨髓间充质干细胞移植于大鼠离断坐骨神经断端治疗失神经肌肉萎缩的效果。方法采用贴壁筛选法分离培养大鼠骨髓间充质干细胞。选取健康Sprauge-Dawley大鼠36只,切断左侧后肢坐骨神经制备神经缺损模型,随机分为观察组和对照组,观察组大鼠左侧后肢腓肠肌内注射1.5×108L-1的骨髓间充质干细胞悬液0.2 m L,对照组大鼠左侧后肢腓肠肌内注入同等剂量低糖达尔伯克改良伊格尔培养液,分别于2、4、6周后对2组大鼠进行大体观察,检测左侧后肢腓肠肌湿质量、肌纤维横截面积、坐骨神经功能指数(SFI),免疫组织化学法检测腓肠肌组织Bcl-2、Bax的表达变化。结果术后2、4、6周,观察组大鼠左侧后肢腓肠肌湿质量、腓肠肌纤维横截面积、SFI均显著高于对照组(P<0.05)。术后2、4、6周,观察组大鼠左侧后肢腓肠肌组织中Bcl-2阳性细胞表达强度均高于对照组(P<0.05),Bax阳性细胞表达强度均低于对照组(P<0.05)。结论骨髓间充质干细胞可提高失神经后骨骼肌湿质量和肌纤维横截面积,减少肌细胞凋亡,延缓失神经支配骨骼肌萎缩。展开更多
文摘The coexistence of neurogenic and myogenic features in scapuloperoneal syndro me is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a var iety of disorders affecting mainly the muscular and adipose tissues and, more re cently, with autosomal recessive Charcot- Marie- Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affecte d in primary LMNA myopathy. Our observations further support the marked intrafam ilial and interfamilial phenotypic heterogeneity associated with lamin A/C defec ts.
文摘目的观察骨髓间充质干细胞移植于大鼠离断坐骨神经断端治疗失神经肌肉萎缩的效果。方法采用贴壁筛选法分离培养大鼠骨髓间充质干细胞。选取健康Sprauge-Dawley大鼠36只,切断左侧后肢坐骨神经制备神经缺损模型,随机分为观察组和对照组,观察组大鼠左侧后肢腓肠肌内注射1.5×108L-1的骨髓间充质干细胞悬液0.2 m L,对照组大鼠左侧后肢腓肠肌内注入同等剂量低糖达尔伯克改良伊格尔培养液,分别于2、4、6周后对2组大鼠进行大体观察,检测左侧后肢腓肠肌湿质量、肌纤维横截面积、坐骨神经功能指数(SFI),免疫组织化学法检测腓肠肌组织Bcl-2、Bax的表达变化。结果术后2、4、6周,观察组大鼠左侧后肢腓肠肌湿质量、腓肠肌纤维横截面积、SFI均显著高于对照组(P<0.05)。术后2、4、6周,观察组大鼠左侧后肢腓肠肌组织中Bcl-2阳性细胞表达强度均高于对照组(P<0.05),Bax阳性细胞表达强度均低于对照组(P<0.05)。结论骨髓间充质干细胞可提高失神经后骨骼肌湿质量和肌纤维横截面积,减少肌细胞凋亡,延缓失神经支配骨骼肌萎缩。
