利用适合电子病历的新算法确定加拿大矮身材儿童队列中原发性 IGF-1 缺乏症的特征

Children Pub Date : 2024-06-14 DOI:10.3390/children11060727
Rinila Haridas, Carly Baxter, Saunya Dover, Ellen B. Goldbloom, Ivan Terekhov, M. Robinson
{"title":"利用适合电子病历的新算法确定加拿大矮身材儿童队列中原发性 IGF-1 缺乏症的特征","authors":"Rinila Haridas, Carly Baxter, Saunya Dover, Ellen B. Goldbloom, Ivan Terekhov, M. Robinson","doi":"10.3390/children11060727","DOIUrl":null,"url":null,"abstract":"(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity of reported cases of SPIGFD worldwide, the condition may be underdiagnosed, potentially preventing affected children from receiving therapy with recombinant human IGF-1 (rhIGF-1). Our objective was to determine the prevalence of SPIGFD among children with short stature at a large pediatric tertiary care center through the use of a novel electronic medical record (EMR) algorithm. (2) Methods: We queried our EMR using an algorithm that detected all children seen at our center between 1 November 2013 and 31 August 2021 with short stature and low IGF-1. We then conducted chart reviews, applying established diagnostic criteria for those identified with potential SPIGFD. (3) Results: From a cohort of 4863 children with short stature, our algorithm identified 30 (0.6%) patients with potential SPIGFD. Using chart reviews, we determined that none of these patients had SPIGFD. (4) Conclusions: Our algorithm can be used in other EMRs to identify which patients are likely to have SPIGFD and thus benefit from treatment with rhIGF-1. This model can be replicated for other rare diseases.","PeriodicalId":9854,"journal":{"name":"Children","volume":"55 2","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Characterization of Primary IGF-1 Deficiency in a Cohort of Canadian Children with Short Stature Using a Novel Algorithm Tailored to Electronic Medical Records\",\"authors\":\"Rinila Haridas, Carly Baxter, Saunya Dover, Ellen B. Goldbloom, Ivan Terekhov, M. Robinson\",\"doi\":\"10.3390/children11060727\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity of reported cases of SPIGFD worldwide, the condition may be underdiagnosed, potentially preventing affected children from receiving therapy with recombinant human IGF-1 (rhIGF-1). Our objective was to determine the prevalence of SPIGFD among children with short stature at a large pediatric tertiary care center through the use of a novel electronic medical record (EMR) algorithm. (2) Methods: We queried our EMR using an algorithm that detected all children seen at our center between 1 November 2013 and 31 August 2021 with short stature and low IGF-1. We then conducted chart reviews, applying established diagnostic criteria for those identified with potential SPIGFD. (3) Results: From a cohort of 4863 children with short stature, our algorithm identified 30 (0.6%) patients with potential SPIGFD. Using chart reviews, we determined that none of these patients had SPIGFD. (4) Conclusions: Our algorithm can be used in other EMRs to identify which patients are likely to have SPIGFD and thus benefit from treatment with rhIGF-1. This model can be replicated for other rare diseases.\",\"PeriodicalId\":9854,\"journal\":{\"name\":\"Children\",\"volume\":\"55 2\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-06-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Children\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3390/children11060727\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Children","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/children11060727","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

(1) 背景:严重原发性胰岛素样生长因子-I缺乏症(SPIGFD)是一种罕见的疾病,由于胰岛素样生长因子1(IGF-1)水平低而导致儿童身材矮小。由于全球报告的 SPIGFD 病例很少,该病可能诊断不足,从而可能导致患儿无法接受重组人 IGF-1 (rhIGF-1) 治疗。我们的目的是通过使用新型电子病历(EMR)算法,确定一家大型儿科三级医疗中心身材矮小儿童中 SPIGFD 的患病率。(2)方法:我们使用一种算法查询了本中心的电子病历,该算法能检测出 2013 年 11 月 1 日至 2021 年 8 月 31 日期间在本中心就诊的所有身材矮小且 IGF-1 偏低的儿童。然后,我们进行了病历审查,对那些被确定为潜在 SPIGFD 的患儿采用既定的诊断标准。(3)结果:在 4863 名身材矮小的儿童中,我们的算法发现了 30 名(0.6%)潜在的 SPIGFD 患者。通过病历审查,我们确定这些患者中没有一人患有 SPIGFD。(4) 结论:我们的算法可用于其他 EMR,以确定哪些患者可能患有 SPIGFD,从而受益于 rhIGF-1 的治疗。这种模式也可用于其他罕见病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Characterization of Primary IGF-1 Deficiency in a Cohort of Canadian Children with Short Stature Using a Novel Algorithm Tailored to Electronic Medical Records
(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity of reported cases of SPIGFD worldwide, the condition may be underdiagnosed, potentially preventing affected children from receiving therapy with recombinant human IGF-1 (rhIGF-1). Our objective was to determine the prevalence of SPIGFD among children with short stature at a large pediatric tertiary care center through the use of a novel electronic medical record (EMR) algorithm. (2) Methods: We queried our EMR using an algorithm that detected all children seen at our center between 1 November 2013 and 31 August 2021 with short stature and low IGF-1. We then conducted chart reviews, applying established diagnostic criteria for those identified with potential SPIGFD. (3) Results: From a cohort of 4863 children with short stature, our algorithm identified 30 (0.6%) patients with potential SPIGFD. Using chart reviews, we determined that none of these patients had SPIGFD. (4) Conclusions: Our algorithm can be used in other EMRs to identify which patients are likely to have SPIGFD and thus benefit from treatment with rhIGF-1. This model can be replicated for other rare diseases.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
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
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
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 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信