Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Mechanism of Ciliary Motion01:05

Mechanism of Ciliary Motion

3.6K
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...
3.6K
Microtubules in Signaling01:22

Microtubules in Signaling

1.7K
The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
1.7K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

218
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,...
218
Chronic Obstructive Pulmonary Disease-I: Introduction01:20

Chronic Obstructive Pulmonary Disease-I: Introduction

2.8K
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.
2.8K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

155
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...
155
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

259
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...
259

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Changing patterns in the medical care of refugees with HIV from Ukraine.

Infection·2026
Same author

Novel pathogenic variant in <i>ARMC4</i> identified by whole exome sequencing in a Turkish family with primary ciliary dyskinesia.

Frontiers in molecular biosciences·2026
Same author

Telomere biology disorders associated with childhood interstitial lung disease.

Clinical and experimental pediatrics·2026
Same author

Association of German Bronchiectasis Registry participation with disease course.

ERJ open research·2026
Same author

Mucoactive therapies and the European Respiratory Society guideline for adult bronchiectasis: what now after the CLEAR trial?

The European respiratory journal·2026
Same author

Comorbid diabetes disease severity and microbial changes in patients with bronchiectasis: a combined analysis of data from the EMBARC, EMBARC-India, Australian, and BE-China registries.

The Lancet. Respiratory medicine·2026
Same journal

[Progression inhibition in chronic kidney disease].

Innere Medizin (Heidelberg, Germany)·2026
Same journal

Innere Medizin (Heidelberg, Germany)·2026
Same journal

Innere Medizin (Heidelberg, Germany)·2026
Same journal

Innere Medizin (Heidelberg, Germany)·2026
Same journal

[Optimal blood pressure control in patients with diabetes and arterial hypertension: interpreting the BPROAD study].

Innere Medizin (Heidelberg, Germany)·2026
Same journal

[Distributive justice in healthcare during times of change: a medical ethics perspective].

Innere Medizin (Heidelberg, Germany)·2026
See all related articles

Related Experiment Video

Updated: Jun 25, 2025

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

4.3K

[Primary ciliary dyskinesia].

Johanna Raidt1,2, Ben O Staar2,3,4, Heymut Omran1,2

  • 1Klinik für Kinder- und Jugendmedizin, Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster, Deutschland.

Innere Medizin (Heidelberg, Germany)
|May 27, 2024
PubMed
Summary
This summary is machine-generated.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia motility, leading to respiratory and other organ issues. Early diagnosis is vital for patient management and access to specialized care.

Keywords:
HydrocephalusInfertilityKartagener syndromeMucociliary clearanceSitus inversus

More Related Videos

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy &#8211; Adaptation for the COVID-19 Pandemic
09:03

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

Published on: November 7, 2020

4.7K
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

12.2K

Related Experiment Videos

Last Updated: Jun 25, 2025

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

4.3K
Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy &#8211; Adaptation for the COVID-19 Pandemic
09:03

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

Published on: November 7, 2020

4.7K
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

12.2K

Area of Science:

  • Medical Genetics
  • Pulmonology
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired cilia function.
  • This dysfunction affects multiple organs, leading to chronic respiratory infections, situs anomalies, and infertility.
  • Symptoms include persistent cough, bronchiectasis, rhinosinusitis, and otitis media.

Purpose of the Study:

  • To highlight the diagnostic complexity of PCD.
  • To emphasize the growing role of molecular genetic analysis in PCD diagnosis.
  • To underscore the importance of early diagnosis for patient management and clinical trial participation.

Main Methods:

  • Clinical evaluation and history taking for initial suspicion.
  • Instrument-based diagnostic procedures for confirmation.
  • Molecular genetic analysis, including panel diagnostics and whole exome/genome sequencing.

Main Results:

  • PCD presents with a variable clinical phenotype affecting respiratory and other organ systems.
  • Diagnostic procedures are complex, requiring a combination of methods.
  • Molecular genetic testing is increasingly important for identifying specific genotypes.

Conclusions:

  • Early identification of PCD is crucial for connecting patients with specialized care centers.
  • Timely diagnosis significantly impacts patient outcomes and clinical management.
  • Molecular diagnostics facilitate participation in disease-specific and genotype-specific clinical trials.