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遗传性多发性骨软骨瘤。一项人类与马的比较流行病学研究。

Hereditary multiple exostosis. A comparative human-equine-epidemiologic study.

作者信息

Leone N C, Shupe J L, Gardner E J, Millar E A, Olson A E, Phillips E C

出版信息

J Hered. 1987 May-Jun;78(3):171-7. doi: 10.1093/oxfordjournals.jhered.a110351.

Abstract

Hereditary multiple exostosis (HME), a bone tumor first described by Virchow, has been studied over a period of 15 years on a comparative basis. The horse, an excellent biomedical model for this physically deforming multiple bone tumor in man, has been utilized in this study. The etiology, hereditary pattern, potential for malignancy and other aspects of this strange affliction need additional clarification. This in-depth study of 261 individuals from 144 families was compared with that of 55 horses bearing the HME trait, selectively bred and studied over the same period. Important information has been collected and evaluated about this condition that is suspect of being frequently missed diagnostically, with a higher incidence in humans that recognized. Continuing development studies of offspring of the original study participants; sarcomatous transformation monitoring; and recently developed genetic techniques should add to our understanding of this puzzling hereditary condition.

摘要

遗传性多发性骨软骨瘤(HME)是一种最早由魏尔啸描述的骨肿瘤,我们在15年的时间里对其进行了比较研究。马是研究人类这种导致身体畸形的多发性骨肿瘤的优秀生物医学模型,本研究中使用了马。这种奇怪疾病的病因、遗传模式、恶变可能性及其他方面需要进一步阐明。对来自144个家庭的261名个体的深入研究与同期对55匹具有HME特征的马进行的选择性繁殖和研究进行了比较。已经收集并评估了有关这种疑似经常漏诊疾病的重要信息,其在人类中的发病率高于已确认的发病率。对原始研究参与者后代的持续发育研究、肉瘤样转化监测以及最近开发的基因技术应有助于我们加深对这种令人困惑的遗传性疾病的理解。

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