Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparison.

Rare diseases (Austin, Tex.) Pub Date : 2013-05-30 eCollection Date: 2013-01-01 DOI:10.4161/rdis.25212
Alexander H Foss, Patricia K Duffner, Randy L Carter
{"title":"Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparison.","authors":"Alexander H Foss,&nbsp;Patricia K Duffner,&nbsp;Randy L Carter","doi":"10.4161/rdis.25212","DOIUrl":null,"url":null,"abstract":"<p><p>This review addresses difficulties arising in estimating epidemiological parameters of leukodystrophies and lysosomal storage disorders, with special focus on Krabbe disease. Although multiple epidemiological studies of Krabbe disease have been published, these studies are difficult to reconcile since they have used different study populations and varying methods of calculation. Confusion exists regarding which epidemiological parameters have been estimated; the current review shows that most previous estimates can be properly interpreted as lifetime risk at birth. One of the most common estimation methods is shown to be inaccurate, while two other methods are shown to be approximately accurate. Based on the results of the current paper, recommendations are made that are expected to improve the quality of future studies of Krabbe disease. It is anticipated that these recommendations will be applicable to epidemiological studies of other lysosomal storage disorders, as well as any other rare diseases diagnosed with enzymatic screening. </p>","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"1 ","pages":"e25212"},"PeriodicalIF":0.0000,"publicationDate":"2013-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4161/rdis.25212","citationCount":"20","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare diseases (Austin, Tex.)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4161/rdis.25212","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2013/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 20

Abstract

This review addresses difficulties arising in estimating epidemiological parameters of leukodystrophies and lysosomal storage disorders, with special focus on Krabbe disease. Although multiple epidemiological studies of Krabbe disease have been published, these studies are difficult to reconcile since they have used different study populations and varying methods of calculation. Confusion exists regarding which epidemiological parameters have been estimated; the current review shows that most previous estimates can be properly interpreted as lifetime risk at birth. One of the most common estimation methods is shown to be inaccurate, while two other methods are shown to be approximately accurate. Based on the results of the current paper, recommendations are made that are expected to improve the quality of future studies of Krabbe disease. It is anticipated that these recommendations will be applicable to epidemiological studies of other lysosomal storage disorders, as well as any other rare diseases diagnosed with enzymatic screening.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
克拉伯病流行病学研究中的终生风险估计:综述和蒙特卡洛比较。
本文综述了在估计白质营养不良症和溶酶体贮积症的流行病学参数时出现的困难,特别关注克拉伯病。虽然已经发表了关于克拉伯病的多项流行病学研究,但这些研究很难调和,因为它们使用了不同的研究人群和不同的计算方法。对于估计了哪些流行病学参数存在混淆;目前的审查表明,大多数以前的估计可以适当地解释为出生时的终生风险。最常见的估计方法之一被证明是不准确的,而另外两种方法被证明是近似准确的。根据当前论文的结果,提出了一些建议,预计将提高未来克拉伯病研究的质量。预计这些建议将适用于其他溶酶体贮积障碍的流行病学研究,以及用酶筛选诊断的任何其他罕见疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Primary Immunodeficiency Chronic Myeloid Leukemia Milestone Histories and Paradigmatic Genetic Discoveries of Chronic Myeloid Leukemia (CML) Duchenne Muscular Dystrophy (DMD) Diagnosis: Past and Present Perspectives Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1