German Archaeological Institute, Department of Natural Sciences, Berlin, Germany.
German Archaeological Institute, Department of Natural Sciences, Berlin, Germany.
Int J Paleopathol. 2021 Jun;33:94-102. doi: 10.1016/j.ijpp.2021.03.003. Epub 2021 Apr 1.
This paper aims to provide a quantitative estimation of the representation of diseases defined as rare today in the bioarchaeological literature and to outline the reasons for this.
A 45-year bibliometric study of publications in seven bioarchaeological journals, along with two journals and editorial groups of broader scientific focus.
Analyses of distribution patterns of the search hits and diachronic trends for achondroplasia, autosomal-dominant osteopetrosis, osteogenesis imperfecta, and osteopoikilosis, compared to those for tuberculosis as control measure of coverage.
Studies of ancient rare diseases (ARD) are mostly published as case reports in specialized journals and their number did not benefit from the introduction of biomolecular studies. The higher frequency of cases of achondroplasia suggests that not all rare diseases are equally under-represented.
Rare diseases are still largely under-represented in bioarchaeological literature. Their marginality likely results from a combination of taphonomic, methodological and public visibility factors.
This article is the first attempt to provide a quantitative assessment of the under-representation of ARD and to outline the factors behind it.
Rare diseases are an etiologically heterogeneous group. The number of surveyed journals and articles, as well as targeted diseases might be limiting factors.
Increasing collection and dissemination of data on ARD; opening a wide-ranging debate on their definition; implementation of biomolecular studies.
本文旨在对当今生物考古学文献中定义为罕见的疾病进行定量估计，并概述其原因。
对七种生物考古学期刊、两种更广泛科学焦点的期刊和编辑组的 45 年文献计量研究。
分析搜索命中的分布模式和先天性软骨发育不全、常染色体显性骨质硬化症、成骨不全症和骨斑点症的历时趋势，并与作为覆盖范围对照措施的结核病进行比较。
古代罕见疾病（ARD）的研究主要以专门期刊的病例报告形式发表，并且其数量并未受益于生物分子研究的引入。软骨发育不全症病例的较高频率表明，并非所有罕见疾病都同样代表性不足。
罕见疾病在生物考古学文献中仍然严重代表性不足。它们的边缘化可能是由埋藏学、方法学和公众可见性因素的综合作用所致。
本文首次尝试对 ARD 的代表性不足进行定量评估，并概述其背后的因素。
罕见疾病是一组病因学上异质的疾病。调查的期刊和文章数量以及目标疾病可能是限制因素。
增加对 ARD 的数据收集和传播；就其定义展开广泛辩论；实施生物分子研究。
