Abstract:
Spina bifida is the most common congenital defect of the central nervous system which can portend lifelong disability to those afflicted. While the complete underpinnings of this disease are yet to be fully understood, there have been great advances in the genetic and molecular underpinnings of this disease. Moreover, the treatment for spina bifida has made great advancements, from surgical closure of the defect after birth to the now state-of-the-art intrauterine repair. This review will touch upon the genetics, embryology, and pathophysiology and conclude with a discussion on current therapy, as well as the first FDA-approved clinical trial utilizing stem cells as treatment for spina bifida.
摘要:
脊柱裂是中枢神经系统最常见的先天性缺陷,可以预示着患者的终生残疾。虽然这种疾病的完整基础尚未完全了解,这种疾病的遗传和分子基础有了很大的进步。此外,脊柱裂的治疗取得了很大的进步,从出生后缺陷的手术闭合到现在最先进的宫内修复。这篇评论将涉及遗传学,胚胎学,和病理生理学,最后讨论了当前的治疗方法,以及第一个FDA批准的利用干细胞治疗脊柱裂的临床试验。