Abstract
Primary ciliary dyskinesia (PCD) is a disorder that affects motile cilia in the airway that are required for the removal of mucus, debris, and pathogens. It is important to diagnose PCD in early childhood to preserve lung function. The confirmation of a diagnosis relies on the assessment of ciliary ultrastructure by transmission electron microscopy (TEM). TEM involves the quantitative assessment of the ciliary ultrastructure to identify PCD defects as well as abnormalities resulting from infection. Many specialist diagnostic centres still rely on physical counters to tally results and paper notes to summarise findings before transferring the results to computer databases/records. To speed up the diagnostic data collection and increase the protection of patient information, we have developed digital ciliary feature counters that conform to the PCD reporting international consensus guideline. These counters can be used on a computer or tablet, and automatically generate notes regarding sample observations. We show that the digital counters are easy to use and can generate TEM diagnostic reports that will be useful for many PCD diagnostic centres.
Highlights
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic disorder of the motile cilia
To speed up the collection of results directly to a computer system and to follow NHS (UK) and many and to follow NHS (UK) and many international guidelines to phase out paper notes, we have international guidelines to phase out paper notes, we have developed a digital PCD ciliary counter
The counters provide an easy and efficient method to count ciliary features and make notes to assist in the diagnosis of PCD
Summary
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic disorder of the motile cilia. Cilia are hair-like structures which play an essential role in the airway by moving and clearing mucus, debris, and pathogens. PCD results in a failure to clear mucus from the airway, leading to chronic lung disease and rhinosinusitis, as well as impacting on hearing and fertility. A diagnosis of PCD at an early age is vital to implement appropriate treatment to preserve lung function and prevent lung damage. Both the European and North American diagnostic guidelines recommend that a diagnosis of PCD should be confirmed by transmission electron microscopy (TEM) in combination with another diagnostic test [2,3]
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