Related Experiment Video
Updated: May 14, 2026
08:00
Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
Published on: July 13, 2015
12.2K
Primary Ciliary Dyskinesia: A Clinical Review
Katherine A Despotes1, Maimoona A Zariwala1,2, Stephanie D Davis1
1Department of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Cells
|June 19, 2024
Summary
Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia. Diagnosis involves multiple tests, and understanding its genetics and clinical features is crucial for patient care.
Area of Science:
- Cilia and Motility Research
- Rare Genetic Diseases
- Pulmonology
Background:
- Primary ciliary dyskinesia (PCD) is a rare, genetically diverse motile ciliopathy.
- Characterized by respiratory distress, recurrent infections, subfertility, and laterality defects.
Purpose of the Study:
- To review the structure and function of motile cilia.
- To discuss the genetics, pathophysiology, and clinical features of PCD.
- To update on diagnostic tools and genotype-phenotype relationships.
Main Methods:
- Literature review of PCD research.
- Analysis of diagnostic methods including nNO, HSVMA, TEM, and genetic testing.
- Synthesis of current knowledge on PCD genetics and clinical presentations.
Main Results:
- 54 causative genes linked to PCD, highlighting genetic heterogeneity.
- No single gold standard diagnostic test exists.
- Emerging genotype-phenotype correlations are being identified.
Conclusions:
- PCD diagnosis requires a multimodal approach.
- Further research into genetics and pathophysiology is essential.
- Understanding genotype-phenotype relationships aids in clinical management and research.
More Related Videos
Related Concept Videos
01:05Mechanism of Ciliary Motion
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
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...
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...
01:05Mechanism of Ciliary Motion
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
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...
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...
01:20COPD: Pathogenesis and Clinical Features
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
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.
01:20Chronic 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
01:23Chronic 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...