鼻腔一氧化氮水平:改善波多黎各原发性睫状肌运动障碍的诊断。

IF 1.8 Q3 RESPIRATORY SYSTEM
Wilfredo De Jesús-Rojas, Francisco Alvarado-Huerta, Jesús M Meléndez-Montañez, José Muñiz-Hernández, Arnaldo Santos-López, Ricardo A Mosquera
{"title":"鼻腔一氧化氮水平:改善波多黎各原发性睫状肌运动障碍的诊断。","authors":"Wilfredo De Jesús-Rojas, Francisco Alvarado-Huerta, Jesús M Meléndez-Montañez, José Muñiz-Hernández, Arnaldo Santos-López, Ricardo A Mosquera","doi":"10.3390/arm90050050","DOIUrl":null,"url":null,"abstract":"<p><p>Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology. Algorithms for PCD diagnosis include clinical history, genetic testing, ciliary biopsy, and nasal Nitric Oxide (nNO) levels. For the first time, this study successfully implemented and measured the nNO levels in subjects with the <i>RSPH4A</i> (c.921+3_921+6del (intronic)) as a diagnostic tool to complement the current algorithm for PCD diagnosis on the island. The nNO level differentiated homozygous subjects with PCD due to the <i>RSPH4A</i> (c.921+3_921+6del (intronic)) founder mutation compared to healthy gender-age matched controls and subjects with VUS or negative genetic testing for PCD. The acquisition of state-of-the-art diagnostic tools such as nNO positively impacted and expanded our current PCD diagnostic capabilities in Puerto Rico for our founder genetic mutation. The addition of nNO technology promotes earlier disease screening and recognition for patients with PCD on the island. The access to nNO helped us to properly characterize the PCD diagnosis for patients with the <i>RSPH4A</i> (c.921+3_921+6del (intronic)). As a result, our findings will allow us to be part of the national PCD foundation registry and represent Puerto Rican Hispanics in future PCD multicentric clinical trials.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":null,"pages":null},"PeriodicalIF":1.8000,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9717333/pdf/","citationCount":"0","resultStr":"{\"title\":\"Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico.\",\"authors\":\"Wilfredo De Jesús-Rojas, Francisco Alvarado-Huerta, Jesús M Meléndez-Montañez, José Muñiz-Hernández, Arnaldo Santos-López, Ricardo A Mosquera\",\"doi\":\"10.3390/arm90050050\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology. Algorithms for PCD diagnosis include clinical history, genetic testing, ciliary biopsy, and nasal Nitric Oxide (nNO) levels. For the first time, this study successfully implemented and measured the nNO levels in subjects with the <i>RSPH4A</i> (c.921+3_921+6del (intronic)) as a diagnostic tool to complement the current algorithm for PCD diagnosis on the island. The nNO level differentiated homozygous subjects with PCD due to the <i>RSPH4A</i> (c.921+3_921+6del (intronic)) founder mutation compared to healthy gender-age matched controls and subjects with VUS or negative genetic testing for PCD. The acquisition of state-of-the-art diagnostic tools such as nNO positively impacted and expanded our current PCD diagnostic capabilities in Puerto Rico for our founder genetic mutation. The addition of nNO technology promotes earlier disease screening and recognition for patients with PCD on the island. The access to nNO helped us to properly characterize the PCD diagnosis for patients with the <i>RSPH4A</i> (c.921+3_921+6del (intronic)). As a result, our findings will allow us to be part of the national PCD foundation registry and represent Puerto Rican Hispanics in future PCD multicentric clinical trials.</p>\",\"PeriodicalId\":7391,\"journal\":{\"name\":\"Advances in respiratory medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2022-09-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9717333/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Advances in respiratory medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3390/arm90050050\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances in respiratory medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/arm90050050","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
引用次数: 0

摘要

原发性纤毛运动障碍症(PCD)是一种罕见的遗传病,其特点是纤毛运动功能障碍,在西班牙裔人群中的发病率为 1 比 16 309。在波多黎各,PCD 的发病率尚不清楚。由于缺乏诊断技术,在波多黎各诊断 PCD 具有挑战性。PCD 诊断算法包括临床病史、基因检测、睫状体活检和鼻腔一氧化氮(nNO)水平。本研究首次成功实施并测量了 RSPH4A(c.921+3_921+6del(内含子))受试者的 nNO 水平,将其作为一种诊断工具,以补充岛上目前的 PCD 诊断算法。与健康的性别-年龄匹配对照组、VUS 或 PCD 基因检测阴性的受试者相比,nNO 水平可区分因 RSPH4A(c.921+3_921+6del(内含子))创始突变而患有 PCD 的同卵受试者。收购 nNO 等最先进的诊断工具对我们目前在波多黎各针对创始人基因突变的 PCD 诊断能力产生了积极的影响和拓展。nNO 技术的加入促进了对岛上 PCD 患者的早期疾病筛查和识别。nNO 的使用帮助我们对 RSPH4A(c.921+3_921+6del(内含子))患者的 PCD 诊断做出了正确的定性。因此,我们的研究结果将使我们成为全国 PCD 基金会登记处的一部分,并在未来的 PCD 多中心临床试验中代表波多黎各西班牙裔患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico.

Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico.

Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico.

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology. Algorithms for PCD diagnosis include clinical history, genetic testing, ciliary biopsy, and nasal Nitric Oxide (nNO) levels. For the first time, this study successfully implemented and measured the nNO levels in subjects with the RSPH4A (c.921+3_921+6del (intronic)) as a diagnostic tool to complement the current algorithm for PCD diagnosis on the island. The nNO level differentiated homozygous subjects with PCD due to the RSPH4A (c.921+3_921+6del (intronic)) founder mutation compared to healthy gender-age matched controls and subjects with VUS or negative genetic testing for PCD. The acquisition of state-of-the-art diagnostic tools such as nNO positively impacted and expanded our current PCD diagnostic capabilities in Puerto Rico for our founder genetic mutation. The addition of nNO technology promotes earlier disease screening and recognition for patients with PCD on the island. The access to nNO helped us to properly characterize the PCD diagnosis for patients with the RSPH4A (c.921+3_921+6del (intronic)). As a result, our findings will allow us to be part of the national PCD foundation registry and represent Puerto Rican Hispanics in future PCD multicentric clinical trials.

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
Advances in respiratory medicine
Advances in respiratory medicine RESPIRATORY SYSTEM-
CiteScore
2.60
自引率
0.00%
发文量
90
期刊介绍: "Advances in Respiratory Medicine" is a new international title for "Pneumonologia i Alergologia Polska", edited bimonthly and addressed to respiratory professionals. The Journal contains peer-reviewed original research papers, short communications, case-reports, recommendations of the Polish Respiratory Society concerning the diagnosis and treatment of lung diseases, editorials, postgraduate education articles, letters and book reviews in the field of pneumonology, allergology, oncology, immunology and infectious diseases. "Advances in Respiratory Medicine" is an open access, official journal of Polish Society of Lung Diseases, Polish Society of Allergology and National Research Institute of Tuberculosis and Lung 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
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