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Chapter 1 Introduction

机译：第1章简介

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Normal and abnormal vertebral development have been studied over the past 200 years at increasing levels of resolution as techniques for biological investigation have improved. Disordered development of the axial skeleton from the early embryonic period on leads to structurally malformed vertebrae and intervertebral discs and ribs causing the severe deformities of scoliosis, kyphosis, and kyphoscoliosis. Developmental malformation of the axial skeleton therefore has led to considerable biological and clinical interest. This work will detail our studies on the structural deformities of the vertebral column and adjacent ribs in the pudgy mouse [1] caused by mutations in the delta-like 3 (D113) gene of the Notch family [2]. While gene abnormalities in the pudgy mouse have been outlined, there has been no in-depth assessment of the histopathology of the pudgy vertebral and rib abnormalities that this study will provide. In addition, although congenital scoliosis has been recognized as a clinical problem since the mid-nineteenth century (1800s) [3] and accurately defined by radiography since the early twentieth century (1900s) [4-6], there have been few detailed histopathologic studies of human cases. We will also relate our histopathologic findings in the pudgy mouse to the histopathology of human vertebral and rib malformations in clinical cases of congenital scoliosis, one of which we defined in detail previously [7].
机译：在过去的200年中，随着生物学研究技术的进步，对椎骨发育的正常和异常进行了研究，并且其分辨率越来越高。从早期胚胎期开始，轴状骨骼的无序发育会导致椎骨，椎间盘和肋骨的结构畸形，从而导致脊柱侧凸，后凸畸形和后凸畸形的严重畸形。因此，轴向骨骼的发育畸形引起了相当大的生物学和临床兴趣。这项工作将详细研究由Notch家族的delta-like 3（D113）基因突变引起的矮胖小鼠[1]的椎骨和相邻肋骨的结构变形。尽管已概述了矮胖小鼠的基因异常，但尚未对本研究将提供的矮胖椎骨和肋骨异常的组织病理学进行深入评估。此外，尽管自19世纪中叶（1800s）起先天性脊柱侧弯已被视为临床问题[3]，并且自20世纪初（1900s）[4-6]通过放射线照相术已准确定义了先天性脊柱侧弯，但很少有详细的组织病理学资料人类病例研究。在先天性脊柱侧凸的临床病例中，我们还将在矮胖小鼠中的组织病理学发现与人的椎骨和肋骨畸形的组织病理学相关联，我们先前对此进行了详细定义[7]。

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