Related Experiment Video

Updated: Jun 19, 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

Recognizing clinical features of primary ciliary dyskinesia in the perinatal period

Lydia Mapala1, Madhan Kumar2, Anne-Marie Canakis2

  • 1Pediatric Respiratory Medicine, McGill University Health Centre, Montreal, QC, Canada. lydia.mapala@mail.mcgill.ca.

Journal of Perinatology : Official Journal of the California Perinatal Association
|July 24, 2024
PubMed

Insights

Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing chronic respiratory issues. Diagnosis in newborns is often delayed, despite key symptoms like respiratory distress, necessitating increased awareness among neonatal caregivers.

Area of Science:

  • Medical Genetics
  • Pediatric Pulmonology
  • Neonatology

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic motile ciliopathy.
  • It primarily affects the respiratory system, leading to chronic ear, sinus, and lung disease.
  • Neonatal respiratory distress is a common symptom, yet diagnosis is frequently delayed.

Purpose of the Study:

  • To review the prevalence and specific features of neonatal diagnoses of PCD.
  • To highlight diagnostic challenges and key indicators in neonates.
  • To inform neonatal caregivers about timely diagnosis and management.

Main Methods:

  • Review of neonatal PCD diagnoses within a large PCD clinic.
  • Analysis of clinical presentations, diagnostic features, and outcomes.
  • Examination of specific presentations in premature neonates.

Main Results:

  • Neonatal respiratory distress and lobar atelectasis on chest radiography often present with delayed onset.
  • Specific presentations and responses to perinatal therapies in premature neonates were observed.
  • Organ laterality defects, prenatal cerebral ventriculomegaly, and family history are important clues.

Conclusions:

  • Increased awareness of PCD's neonatal features is crucial for timely diagnosis.
  • Prompt diagnostic testing should be considered in neonates with suggestive symptoms or history.
  • Early diagnosis facilitates appropriate management and improves outcomes for infants with PCD.

More Related Videos

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic09:03

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

Published on: November 7, 2020

4.7K
In vivo Evaluation of Mucociliary Clearance in Mice06:35

In vivo Evaluation of Mucociliary Clearance in Mice

Published on: December 18, 2020

4.4K

Related Concept Videos

Respiratory System Abnormal Finding II: Palpation and Auscultation01:31

Respiratory System Abnormal Finding II: Palpation and Auscultation

In assessing respiratory abnormalities, palpation and auscultation are critical tools for detecting and interpreting various pathophysiological changes. These techniques provide insight into underlying disorders by evaluating tactile sensations and sounds produced by the respiratory system.
Palpation Findings
During a respiratory assessment, palpation can reveal several vital abnormalities:
375
Respiratory System Abnormal Finding I: Inspection and Percussion01:30

Respiratory System Abnormal Finding I: Inspection and Percussion

Respiratory system abnormalities are a significant concern in healthcare due to their potential to indicate underlying severe conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, and pneumonia. These abnormalities can often be detected through physical examination methods like inspection and percussion.
Inspection Findings
During an inspection, several findings may suggest the presence of respiratory distress or disease. Pursed-lip breathing, where exhalation is slowed by...
242
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

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...
154
Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
153