基于全国登记的荷兰八种神经肌肉疾病的地理分布

Rare Pub Date : 2025-01-01 DOI:10.1016/j.rare.2025.100059
Johanna C.W. Deenen , André L.M. Verbeek , Pieter A. van Doorn , Catharina G. Faber , Anneke J. van der Kooi , Nicolette C. Notermans , Jan J.G.M. Verschuuren , Baziel G.M. van Engelen , Nicol C. Voermans
{"title":"基于全国登记的荷兰八种神经肌肉疾病的地理分布","authors":"Johanna C.W. Deenen ,&nbsp;André L.M. Verbeek ,&nbsp;Pieter A. van Doorn ,&nbsp;Catharina G. Faber ,&nbsp;Anneke J. van der Kooi ,&nbsp;Nicolette C. Notermans ,&nbsp;Jan J.G.M. Verschuuren ,&nbsp;Baziel G.M. van Engelen ,&nbsp;Nicol C. Voermans","doi":"10.1016/j.rare.2025.100059","DOIUrl":null,"url":null,"abstract":"<div><div>Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and researchers. Geographical mapping of the specific disorders is expected to provide valuable insights into clustering of the conditions, which points to possible environmental and genetical determinants. So far, mostly geographical maps of motor neuron diseases have been reported. By using record information from the Dutch nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) we aimed to generate geographical maps for eight disorders predominantly diagnosed in adults. We investigated the geographical distribution of newly diagnosed patients in the Netherlands from 2004 to 2011. The variables used were diagnosis, date of diagnosis, and the first two digits of the postal code for geographical location from CRAMP. The number of incident cases was divided by the total number of people populating the postal code area. Nationwide incidence maps were constructed for myotonic dystrophy, progressive (spinal) muscular atrophy, chronic inflammatory demyelinating polyneuropathy, facioscapulohumeral muscular dystrophy, inclusion body myositis, hereditary motor and sensory neuropathy, Pompe disease and oculopharyngeal muscular dystrophy. Considerable regional variation between disorders was observed, particularly for myotonic dystrophy and facioscapulohumeral muscular dystrophy. We provided the first neuromuscular atlas of the Netherlands with maps for eight disorders commonly seen in the neuromuscular practice. To address possible outliers due to low population numbers, Bayesian smoothing techniques should be considered in future research.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100059"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry\",\"authors\":\"Johanna C.W. Deenen ,&nbsp;André L.M. Verbeek ,&nbsp;Pieter A. van Doorn ,&nbsp;Catharina G. Faber ,&nbsp;Anneke J. van der Kooi ,&nbsp;Nicolette C. Notermans ,&nbsp;Jan J.G.M. Verschuuren ,&nbsp;Baziel G.M. van Engelen ,&nbsp;Nicol C. Voermans\",\"doi\":\"10.1016/j.rare.2025.100059\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and researchers. Geographical mapping of the specific disorders is expected to provide valuable insights into clustering of the conditions, which points to possible environmental and genetical determinants. So far, mostly geographical maps of motor neuron diseases have been reported. By using record information from the Dutch nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) we aimed to generate geographical maps for eight disorders predominantly diagnosed in adults. We investigated the geographical distribution of newly diagnosed patients in the Netherlands from 2004 to 2011. The variables used were diagnosis, date of diagnosis, and the first two digits of the postal code for geographical location from CRAMP. The number of incident cases was divided by the total number of people populating the postal code area. Nationwide incidence maps were constructed for myotonic dystrophy, progressive (spinal) muscular atrophy, chronic inflammatory demyelinating polyneuropathy, facioscapulohumeral muscular dystrophy, inclusion body myositis, hereditary motor and sensory neuropathy, Pompe disease and oculopharyngeal muscular dystrophy. Considerable regional variation between disorders was observed, particularly for myotonic dystrophy and facioscapulohumeral muscular dystrophy. We provided the first neuromuscular atlas of the Netherlands with maps for eight disorders commonly seen in the neuromuscular practice. To address possible outliers due to low population numbers, Bayesian smoothing techniques should be considered in future research.</div></div>\",\"PeriodicalId\":101058,\"journal\":{\"name\":\"Rare\",\"volume\":\"3 \",\"pages\":\"Article 100059\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rare\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S295000872500002X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S295000872500002X","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

神经肌肉疾病是一种非常异质性的疾病,包括大量患者。关于发病率、流行率和死亡率的流行病学关键数字是个体化和公共卫生保健和研究人员的基本信息。特定疾病的地理制图预计将为条件的聚类提供有价值的见解,指出可能的环境和遗传决定因素。到目前为止,已经报道的大多是运动神经元疾病的地形图。通过使用荷兰全国所有肌病和多神经病变计算机注册表(CRAMP)的记录信息,我们的目标是为主要诊断为成人的八种疾病生成地理地图。我们调查了2004年至2011年荷兰新诊断患者的地理分布。使用的变量是诊断、诊断日期和邮政编码的前两位数字,用于从CRAMP中获取地理位置。事件数量除以邮政编码区域的总人口数。构建了全国肌强直性营养不良、进行性(脊柱)肌萎缩、慢性炎症性脱髓鞘性多神经病变、面肩肱肌营养不良、包涵体肌炎、遗传性运动和感觉神经病变、庞贝病和眼咽肌营养不良的发病率图。观察到疾病之间存在相当大的区域差异,特别是肌强直性营养不良和面肩肱肌营养不良。我们提供了荷兰的第一个神经肌肉地图集,其中包含了神经肌肉实践中常见的八种疾病的地图。为了解决由于人口数量少而可能出现的异常值,在未来的研究中应该考虑贝叶斯平滑技术。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry
Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and researchers. Geographical mapping of the specific disorders is expected to provide valuable insights into clustering of the conditions, which points to possible environmental and genetical determinants. So far, mostly geographical maps of motor neuron diseases have been reported. By using record information from the Dutch nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) we aimed to generate geographical maps for eight disorders predominantly diagnosed in adults. We investigated the geographical distribution of newly diagnosed patients in the Netherlands from 2004 to 2011. The variables used were diagnosis, date of diagnosis, and the first two digits of the postal code for geographical location from CRAMP. The number of incident cases was divided by the total number of people populating the postal code area. Nationwide incidence maps were constructed for myotonic dystrophy, progressive (spinal) muscular atrophy, chronic inflammatory demyelinating polyneuropathy, facioscapulohumeral muscular dystrophy, inclusion body myositis, hereditary motor and sensory neuropathy, Pompe disease and oculopharyngeal muscular dystrophy. Considerable regional variation between disorders was observed, particularly for myotonic dystrophy and facioscapulohumeral muscular dystrophy. We provided the first neuromuscular atlas of the Netherlands with maps for eight disorders commonly seen in the neuromuscular practice. To address possible outliers due to low population numbers, Bayesian smoothing techniques should be considered in future research.
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