患者的诊断测试初级状动力障碍:一个国际参与性研究
Leonie Daria Schreck1,2, Eva Sophie Lunde Pedersen1, Isabelle Cizeau3
1Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
在全球范围内,对原发性纤毛功能障碍 (PCD) 的诊断测试有所不同. 许多患者接受不完整的检查,这凸显了全面测试的必要性,以完善诊断,并使个性化医疗成为可能.
科学领域:
- 罕见疾病 罕见疾病
- 肺部病理学 肺部病理学
- 遗传学 是一个遗传学.
背景情况:
- 初级状动力障碍 (PCD) 是一种罕见的遗传疾病,影响功能.
- 准确的诊断和PCD的特征对于患者管理至关重要.
- 怀疑全球在PCD诊断测试的可用性和利用率上存在差异.
研究的目的:
- 为了比较不同国家对PCD的诊断测试使用情况.
- 评估患者对用于PCD的诊断测试的回忆.
- 确定影响使用特定PCD诊断测试的因素.
主要方法:
- 来自国际COVID-PCD队列研究的横截面数据.
- 基线调查问卷数据用于PCD的诊断测试.
- 后勤回归分析以确定与鼻氧化 (nNO) 测量,活检和遗传检测相关的因素.
主要成果:
- 来自49个国家的747名参与者的数据显示,PCD诊断测试的全球差异很大.
- 大多数参与者 (92%) 报告接受了诊断测试,包括鼻氧化 (nNO) 测量 (49%),活检 (75%) 和遗传测试 (58%).
- 最近被诊断出来的人和没有网站异常的人报告了更全面的测试,而老年诊断出来的人和有网站异常的人的检查不太完整.
结论:
- 在使用初级状动力障碍 (PCD) 诊断测试方面存在显著的全球差异.
- 很大一部分患有PCD的人接受不完整的诊断工作,仅依靠临床特征或单个测试.
- 对被诊断很久或有网站异常的个体进行补充测试可能会提高诊断准确度,并促进个性化医疗方法.
更多相关视频
09:03Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
11:13Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency
Published on: November 10, 2021
相关概念视频
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History
Chronic Obstructive Pulmonary Disease-I: Introduction
Mechanism of Ciliary Motion
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
Myasthenia Gravis: Diagnostic Tests
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
Sputum Studies II: Culture and Sensitivity
Sputum culture and sensitivity is a medical procedure used to diagnose bacterial infections in the respiratory tract and select the most appropriate antibiotics for treatment. This process involves analyzing sputum samples of thick and opaque secretions produced in the lungs and airways. These samples are collected from patients and then sent to the laboratory for analysis.
The test can identify various pathogens responsible for respiratory infections, including Streptococcus,...
