scholarly journals 51 Electron microscopy of nasal epithelium of patients with suspected primary ciliary dyskinesia

2005 ◽  
Vol 4 ◽  
pp. S15
Keyword(s):  
Electron Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Epithelium ◽  
Ciliary Dyskinesia

The Evaluation of Ciliary Function: Electron versus Light Microscopy

1998 ◽  
Vol 12 (3) ◽  
pp. 199-202 ◽  
Author(s):  
Stephen B. Kupferberg ◽  
John P. Bent ◽  
Edward S. Porubsky
Keyword(s):  
Electron Microscopy ◽  
Light Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Imaging Techniques ◽  
Electron Microscopic Examination ◽  
Definitive Diagnosis ◽  
Electron Microscopic ◽  
Ciliary Function ◽  
Physical Findings ◽  
Ciliary Dyskinesia

Diagnosing Primary Ciliary Dyskinesia can often be difficult. Physical findings suggest the disease, but definitive diagnosis should be made with a ciliary biopsy. Twenty biopsies were obtained from 16 patients and all underwent both light and electron microscopic examination. In 8/20 (40%) there was a discrepancy between the different imaging techniques. Therefore, light microscopy should be used to assess adequacy of biopsy and motion of the cilia along with electron microscopy to examine ultrastructure.

scholarly journals Frequency and Types of Ciliary Ultrastructural Defects in Patients With Suspected Primary Ciliary Dyskinesia Symptoms Analyzed by Transmission Electron Microscopy

2021 ◽  
Author(s):  
Mitra Rezaei ◽  
Amirali Soheili ◽  
Atefeh Fakharian ◽  
Hamid Jamaati ◽  
Jahangir Ghorbani ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Infections ◽  
Descriptive Analysis ◽  
Final Diagnosis ◽  
International Consensus ◽  
Tem Analysis ◽  
Transmission Electron ◽  
Ciliary Dyskinesia

Abstract Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition of often chronic respiratory infections in early life. A useful tool for early diagnosis of such ciliary abnormalities is transmission electron microscopy (TEM). This study aimed to use TEM to examine these defects and speculate on a diagnosis.Methods: From 2017 to 2019, all referral patients with suspected PCD symptoms were included in this study. Nasal samples were taken after exclusion of further potential differential diagnosis and prepared for TEM. The final diagnosis was based on the International Consensus Guideline for reporting transmission electron microscopy results in the diagnosis of PCD. A descriptive analysis of demographic and ciliary ultrastructural data was performed by SPSS ver 21.Results: Study population consisted of 37 women and 30 men (mean age=20.34±10.7 years). The clinical presentations were as follows: bronchiectasis: 26 patients (38.8%); sinusitis: 23(34.3%); recurrent respiratory infection: 21 patients (31.3%); auditory symptoms: 5 patients (7.5%); situs inversus: 3 patients (4.4%); productive cough: 2 patients (3%); infertility: 2 patients (3%); polyposis: 1 patient (1.5%). According to TEM analysis, 12 (17%) of patients were PCD, 11 (15.7%) were indicating PCD cases, 26 (37.1%) of them had no criteria of PCD and 18 (25.7%) of cases had normal ciliary ultrastructure. Compound cilia and extra-tubule were reported in 29 (41.4%) and 31(44.3%) of patients, respectively. The outer dynein arm defect was seen in 11(16.4%) cases and the inner dynein arm (IDA) defect was seen in 20 (29.8%) cases. Two patients (3%) had microtubular disorganization.Conclusion: Bronchiectasis and sinusitis were the most common complications. The compound cilia and extra-tubule were the most prevalent TEM finding among all participants. However, the most prevalent hallmark diagnostic defects among PCD patients were ODA and IDA defects among PCD patients. Other diagnostic PCD tests should also be performed in patients in the indicating PCD group, those without PCD criteria, and normal patients with a highly suggestive history. Cell-culture, as well, should confirm IDA defects. This study highlights the fundamental need to consider ciliary defect among probable diagnoses and use TEM as a practical diagnostic tool.

scholarly journals Ciliary Feature Counter: A program for the Quantitative Assessment of Cilia to Diagnose Primary Ciliary Dyskinesia

Diagnostics ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. 524
Author(s):  
Andreia L. Pinto ◽  
Ranjit K. Rai ◽  
Claire Hogg ◽  
Thomas Burgoyne
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Quantitative Assessment ◽  
Consensus Guideline ◽  
International Consensus ◽  
Transmission Electron ◽  
Speed Up ◽  
Ciliary Dyskinesia ◽  
Ciliary Ultrastructure

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.

scholarly journals Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children

Thorax ◽  
2018 ◽  
Vol 73 (10) ◽  
pp. 980-982 ◽  
Author(s):  
Massimo Pifferi ◽  
Andrew Bush ◽  
Michele Rizzo ◽  
Alessandro Tonacci ◽  
Maria Di Cicco ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Chronic Sinusitis ◽  
Olfactory Dysfunction ◽  
Healthy Controls ◽  
Sinus Disease ◽  
Multiple Functions ◽  
Nasal Nitric Oxide ◽  
Transmission Electron ◽  
Ciliary Dyskinesia

Cilia have multiple functions including olfaction. We hypothesised that olfactory function could be impaired in primary ciliary dyskinesia (PCD). Olfaction, nasal nitric oxide (nNO) and sinus CT were assessed in patients with PCD and non-PCD sinus disease, and healthy controls (no CT scan). PCD and non-PCD patients had similar severity of sinus disease. Despite this, defective olfaction was more common in patients with PCD (P<0.0001) and more severe in patients with PCD with major Transmission Electron Microscopy (TEM) abnormalities. Only in classical PCD did olfaction inversely correlate with sinusitis and nNO. We speculate that defective olfaction in PCD is primary in nature.

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