title: Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia.
abstract: BACKGROUND
  Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnostic difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motility (Desinsoft-Bio 200). The secondary aim was to correlate nasal ciliary activity with clinical and structural abnormalities in PCD.
  
  
  METHODS
  We analysed nasal mucociliary transport, cilia ultrastructure, nasal ciliary beat frequency and beat pattern studied by high-resolution digital high-speed video in 25 cases of PCD (11 Kartagener syndrome), 27 secondary ciliary dyskinesia and 34 healthy volunteers.
  
  
  RESULTS
  Nasal mucociliary transport was defective in both primary and secondary ciliary dyskinesia. Ciliary immotility was observed only in 6 patients with Kartagener syndrome and correlated with the absence of dynein. We observed a correlation between partial dynein deficiencies and ciliary dyskinesia. Cilia activity and structure was normal in secondary ciliary dyskinesia.
  
  
  CONCLUSIONS
  Nasal mucociliary transport showed high sensitivity for PCD diagnosis with a low specificity. High-resolution digital high-speed video has a high sensitivity and specificity for diagnosing PCD. This system of video analysis is more useful than ultrastructural study and mucociliary transport for PCD screening. Dynein absence is correlated with cilia immotility and is more common in patients with Kartagener syndrome.
authors: Sección de Rinología, Servicio de Otorrinolaringología, Hospital General Universitario, Universidad de Valencia, Valencia, España. miguel.armengot@gmail.com
authors: Miguel
authors: M
authors: Armengot
authors: Mireya
authors: M
authors: Bonet
authors: Carmen
authors: C
authors: Carda
authors: María José
authors: MJ
authors: Gómez
authors: Javier
authors: J
authors: Milara
authors: Manuel
authors: M
authors: Mata
authors: Julio
authors: J
authors: Cortijo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007619:Kartagener Syndrome / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity; D055815:Young Adult