Related Experiment Video

Updated: Mar 11, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

5.3K

PCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients-a

Wangji Zhou1,2, Lin Wang3, Qiaoling Chen1

  • 1Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

BMC Medicine
|March 10, 2026
PubMed

Insights

A new screening tool, the Primary Ciliary Dyskinesia Score (PCDSOS), effectively identifies primary ciliary dyskinesia (PCD) in adults with bronchiectasis. This tool offers improved accuracy over existing methods for timely diagnosis and intervention.

Area of Science:

  • Pulmonology and Genetics
  • Rare Diseases and Diagnostics

Background:

  • Primary ciliary dyskinesia (PCD) is an underdiagnosed genetic cause of adult bronchiectasis.
  • Current screening tools are validated in children and lack adult-specific predictors.
  • There is a need for an accurate adult-specific screening tool for PCD.

Purpose of the Study:

  • To develop and validate a practical screening tool, the Primary Ciliary Dyskinesia Score (PCDSOS), for adult bronchiectasis patients.
  • To improve the early identification of primary ciliary dyskinesia in adults.

Main Methods:

  • A derivation cohort (n=287) and a validation cohort (n=107) of adult bronchiectasis patients were used.
  • Patients underwent at least one PCD diagnostic test.
  • Logistic regression was employed to develop the PCDSOS, with performance evaluated using AUC, calibration curves, and decision curve analysis.

Main Results:

  • The PCDSOS incorporates six predictors: pulmonary atelectasis/lobectomy, neonatal chest symptoms, organ laterality defects, chronic sinusitis, chronic otitis media/hearing loss, and subfertility.
  • In the derivation cohort, PCDSOS achieved an AUC of 0.90 (sensitivity 0.86, specificity 0.76).
  • In the validation cohort, PCDSOS achieved an AUC of 0.92 (sensitivity 0.90, specificity 0.67), outperforming existing tools.

Conclusions:

  • The PCDSOS demonstrates superior performance compared to existing tools for screening primary ciliary dyskinesia in adult bronchiectasis.
  • PCDSOS provides a cost-effective strategy for identifying patients needing further diagnostic testing.
  • Early identification via PCDSOS is crucial for preventing lung damage and guiding genetic counseling.
Abstract

Keywords:
Primary ciliary dyskinesia; Predictive tool; Diagnostic score

More Related Videos

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic09:03

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic

Published on: November 7, 2020

5.7K
Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency11:13

Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency

Published on: November 10, 2021

4.9K

Related Concept Videos

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies01:27

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies

Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History
3.3K
Chronic Obstructive Pulmonary Disease-I: Introduction01:20

Chronic Obstructive Pulmonary Disease-I: Introduction

Chronic Obstructive Pulmonary Disease (COPD) is a long-lasting respiratory condition requiring continuous attention and care. It is a progressive lung disease that leads to breathing challenges due to airflow obstruction. It manifests as persistent respiratory symptoms and restricted airflow resulting from abnormalities in the airways and alveoli, usually due to long-term exposure to harmful particles or gases. COPD mainly consists of two primary conditions: emphysema and chronic bronchitis.
4.0K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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,...
982
COPD: Management Using Bronchodilators and Corticosteroids01:26

COPD: Management Using Bronchodilators and Corticosteroids

Chronic obstructive pulmonary isease (COPD) involves a group of progressive lung disorders characterized by persistent airflow limitation and chronic respiratory symptoms. Asthma-COPD Overlap Syndrome (ACOS), encompassing features of both asthma and Chronic obstructive pulmonary disease (COPD), is a group of progressive lung disorders that includes chronic bronchitis, emphysema, and refractory (non-reversible) asthma. ACOS leads to complex clinical presentations that combine the inflammatory...
1.0K
Chronic Obstructive Pulmonary Disease01:24

Chronic Obstructive Pulmonary Disease

COPD is defined as a heterogeneous lung condition marked by persistent respiratory symptoms such as dyspnea, cough, and sputum production, caused by abnormalities in the airways that cause airflow obstruction.
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...
2.9K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
597