Related Experiment Video
Updated: Jul 19, 2026
09:03
Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
Primary ciliary dyskinesia and upper airway diseases
Marcus P Kennedy1, Lawrence E Ostrowski
1Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina, School of Medicine, 6125 Thurston Bowles Building, Chapel Hill, NC 27599, USA.
Current Allergy and Asthma Reports
|October 10, 2006
Summary
Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia, leading to respiratory infections. Advances in understanding ciliary function are paving the way for earlier diagnosis and improved treatments for PCD.
Area of Science:
- Genetics
- Respiratory Medicine
- Cell Biology
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder.
- It is characterized by impaired ciliary function, leading to recurrent respiratory infections.
- Diagnosis of PCD is often challenging.
Purpose of the Study:
- To review recent advances in understanding the genetic basis of PCD.
- To highlight the impact of ciliary dysfunction on mucociliary clearance.
- To discuss the implications for diagnosis and treatment.
Main Methods:
- Literature review of recent research on PCD genetics and ciliary biology.
- Analysis of the relationship between genetic mutations, ciliary function, and clinical manifestations.
- Synthesis of current knowledge on diagnostic approaches and therapeutic strategies.
Main Results:
- Identification of specific genes responsible for PCD.
- Elucidation of the mechanisms by which genetic defects impair ciliary function.
- Demonstration of the link between reduced mucociliary clearance and increased susceptibility to infections.
Conclusions:
- Advances in molecular biology have identified key genes involved in PCD.
- Improved understanding of ciliary function is crucial for diagnosing PCD.
- Future research holds promise for earlier diagnosis, better treatments, and improved outcomes for patients with PCD.
Related Concept Videos
01:23Chronic Obstructive Pulmonary Disease I: Introduction
Chronic obstructive pulmonary disease is a common, preventable, and treatable respiratory disorder characterized by persistent symptoms and progressive airflow limitation. This limitation results from a combination of small-airway disease (obstructive bronchiolitis) and parenchymal destruction (emphysema), both driven by chronic inflammation from exposure to harmful particles or gases.The disease includes two main pathological entities: emphysema, marked by destruction of alveolar walls and...
01:24Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features
Chronic bronchitis is a key phenotype of chronic obstructive pulmonary disease (COPD), characterized by airway-centered inflammation and mucus overproduction. It develops from long-term exposure to harmful particles or gases, most commonly cigarette smoke, which triggers a persistent inflammatory response.Cellular and Structural ChangesInflammation initially affects the large bronchi and later the smaller airways, with infiltration by immune cells, including neutrophils, macrophages, and...
01:31Common Respiratory Disorders
Respiratory disorders, a prevalent health concern globally, are generally divided into two primary categories: upper and lower respiratory tract disorders. The categorization is based on the area of the respiratory system they affect.
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
01:20Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Inflammation
01:20Chronic 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.
01:23Cystic 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, but...
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, but...