借助伸腱装置动力结构变化的肌腱移植矫正钮扣状畸形

目的:介绍一种矫正纽扣状畸形方法,认识该术式特点。方法:选择1995-01/2005-12在北华大学第一临床医学院手外科进行指背腱膜中央束重建的患者20例,男15例,女5例;年龄18~46岁。将伤指的外侧腱沿其纵轴分为两部分,其中背侧半(内侧束)在中节以远切断,掌侧半(外侧束)在近指根部水平切断。移位外侧腱的外侧束通过Cleland's韧带及部分屈肌腱鞘在远侧指间关节伸直条件下缝合固定。采用掌长肌腱之一半腱束游离移植。在中节指骨基底偏背侧用克氏针横行钻一骨孔,使掌长肌腱通过,移植腱在背侧交叉后,将移植腱与中央腱及两侧束编织缝合,使侧束、中央束及移植腱三者融为一体重建近侧指间关节的伸指功能。采用Caroli评定标准评估疗效,分3级:优、良、可。采用外侧腱外侧束的腱固定术来维持远侧指间关节关节的伸直位,在中央腱止点利用移植腱与中央腱、侧束近端缝合重建近侧指间关节的伸指功能。结果:本组共20例,按Caroli评定标准,优15例,良4例,可1例,优良率为95%。结论:该术式的最大特点是将伸腱装置复杂的动力结构变得简单化,易于掌握,是肌腱组织移植矫正创伤后钮扣状畸形的一种有效方法。     

Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice

Mucopolysaccharidosis type IIIA (MPSIIIA) is an inherited lysosomal storage disease caused by deficiency of sulfamidase, resulting in accumulation of the glycosaminoglycan (GAG) heparan sulfate. It is characterized by severe progressive neurodegeneration, together with somatic alterations, which lead to death during adolescence. Here, we tested the ability of adeno-associated virus (AAV) vector-mediated genetic modification of either skeletal muscle or liver to revert the already established disease phenotype of 2-month-old MPSIIIA males and females. Intramuscular administration of AAV-Sulfamidase failed to achieve significant therapeutic benefit in either gender. In contrast, AAV8-mediated liver-directed gene transfer achieved high and sustained levels of circulating active sulfamidase, which reached normal levels in females and was fourfold higher in males, and completely corrected lysosomal GAG accumulation in most somatic tissues. Remarkably, a 50% reduction of GAG accumulation was achieved throughout the entire brain of males, which correlated with a partial improvement of the pathology of cerebellum and cortex. Liver-directed gene transfer expanded the lifespan of MPSIIIA males, underscoring the importance of reaching supraphysiological plasma levels of enzyme for maximal therapeutic benefit. These results show how liver-directed gene transfer can reverse somatic and ameliorate neurological pathology in MPSIIIA.