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Related Concept Videos

Mechanism of Ciliary Motion01:05

Mechanism 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...
Mechanism of Ciliary Motion01:05

Mechanism 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.
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Cystic Fibrosis: Pathogenesis01:23

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Related Experiment Video

Updated: May 20, 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

Primary ciliary dyskinesia, an orphan disease.

Mieke Boon1, Mark Jorissen, Marijke Proesmans

  • 1Department of Pediatric Pulmonology, University Hospital Leuven, Herestraat 49, 3000, Leuven, Belgium. mieke.boon@uzleuven.be

European Journal of Pediatrics
|July 11, 2012
PubMed
Summary

Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting motile cilia, leading to respiratory infections, situs inversus, and male infertility. Early diagnosis and treatment are crucial for managing symptoms and preventing complications like bronchiectasis.

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Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
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Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
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Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo

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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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Published on: January 19, 2022

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

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Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
08:00

Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo

Published on: July 13, 2015

Area of Science:

  • Genetics and rare diseases
  • Cell biology
  • Respiratory medicine

Background:

  • Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by structural or functional abnormalities of motile cilia.
  • Mutations in at least 16 genes are linked to PCD, yet its true incidence may be underestimated due to diagnostic challenges.
  • Impaired mucociliary clearance in PCD leads to chronic respiratory infections, often starting in infancy.

Purpose of the Study:

  • To summarize the key features, diagnostic considerations, and clinical manifestations of Primary Ciliary Dyskinesia.
  • To highlight the importance of early diagnosis and potential therapeutic interventions for PCD.
  • To underscore the genetic basis and heterogeneous presentation of PCD.

Main Methods:

  • Review of existing literature on Primary Ciliary Dyskinesia.
  • Analysis of diagnostic criteria including ciliary motility and ultrastructure evaluation.
  • Correlation of genetic mutations with clinical phenotypes.

Main Results:

  • PCD diagnosis requires evaluation of ciliary motility and ultrastructure.
  • Nasal nitric oxide measurement is a useful screening tool but not for young children.
  • Approximately 50% of PCD patients exhibit situs inversus due to nodal cilia dysfunction.
  • Male infertility is common in PCD due to defective sperm motility.

Conclusions:

  • Respiratory infections, situs inversus, and male infertility are hallmark manifestations of PCD.
  • Early diagnosis and intervention are critical to prevent conditions like bronchiectasis.
  • Current therapeutic strategies for PCD are not strongly evidence-based and often adapted from cystic fibrosis treatments.