Progress on dynamic neutralization system in treating lumbar degenerative diseases / 中国骨伤

Dynamic stabilization technology has increasingly become the hot spot in basic and clinical research for treating lumbar degenerative diseases. As one kind of dynamic stabilization technology,dynamic neutralization system (Dynesys) keeps the spinal motion ability and improve clinical symptoms of patients, moreover, it shows a certain advantage in delaying the degeneration of adjacent segments. From the available documents,the preliminary biomechanical and clinical results of Dynesys were optimistically, it has become another choice in treating the lumbar degenerative diseases besides the lumbar fusion, and it primarily applies to the treatment of mild to moderate lumbar degenerative disease. However, it lacks a mechanism to maintain and restore the lumbar lordosis and patients need active stretching to achieve lordosis. What's more, how to extend the service life and prevent complications remain to be solved, the long-term effect and the mechanism of delaying the adjacent segment degeneration need further investigation. In this article, the design principle, biomechanical research, clinical outcome and clinical application of Dynesys was reviewed.

Two gene mutations in fibrillin 1 of Marfan syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect novel mutations in the fibrillin 1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes by screening the genes from 14 patients with Marfan syndrome.</p><p><b>METHODS</b>Denaturing high performance liquid chromatography (DHPLC) was introduced to screen for FBN1 and TGFBR2 mutations exon-by-exon. The DNA amplification fragments which DHPLC elution profiles showed different from the corresponding normal elution profile were sequenced to identify the positions and types of mutations. Restriction fragment length polymorphism (RFLP) was employed to further prove the mutations when needed.</p><p><b>RESULTS</b>Two gene mutations of the FBN1 were found in the patients with Marfan syndrome. They were a novel substitutional mutation (Intron29 +4A > T) of FBN1 and a recurrent nonsense mutation (8080C >T) of FBN1.</p><p><b>CONCLUSION</b>Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.</p>