Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia;Desarrollo y validación de un método de análisis de la movilidad ciliar para el diagnóstico precoz de la discinesia ciliar primaria

Acta Otorrinolaringologica Espanola

Volumn 63, Issue 1, 2012, Pages 1-8

  Armengot, Miguel ^a   Bonet, Mireya ^a   Carda, Carmen ^b   Gómez, María José ^a   Milara, Javier ^a   Mata, Manuel ^a   Cortijo, Julio ^a  

^a HOSPITAL GENERAL UNIVERSITARIO DE VALENCIA   (Spain)

^b UNIVERSITY OF VALENCIA   (Spain)

Author keywords

Bronchiectasis; Ciliary beat; Dynein; Fertility; Sinus hypoplasia; Sinusitis; Situs inversus

Indexed keywords

AXONEMAL DYNEIN;

ARTICLE; CILIARY DYSKINESIA; CILIARY MOTILITY; CLINICAL ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; HUMAN; KARTAGENER SYNDROME; NOSE MUCOSA; PRIMARY CILIA DYSKINESIA; SCREENING; ULTRASTRUCTURE; VALIDATION STUDY; VIDEORECORDING; VOLUNTEER;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; EARLY DIAGNOSIS; FEMALE; HUMANS; INFANT; KARTAGENER SYNDROME; MALE; MIDDLE AGED; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 84856283273     PISSN: 00016519     EISSN: 19883013     Source Type: Journal    
DOI: 10.1016/j.otorri.2011.07.001     Document Type: Article

References (26)

1. Afzelius B.A., Mossberg B. Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome. The metabolic and molecular bases of inherited diseases 1995, 3943-3954. McGraw-Hill, New York. 7th ed. C. Scriver, A.L. Beaudet, W. Sly, D. Valle (Eds.).
2. Afzelius B. Situs inversus and ciliary abnormalities. What is the conection?. Int J Dev Biol 1995, 39:839-844.
3. Ellerman A., Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Resp J 1997, 10:2376-2379.
4. Afzelius B.A. Cilia-related diseases. J Pathol 2004, 204:470-477.
5. Jorissen M., Bertrand B., Eloy P. Ciliary dyskinesia in the nose and paranasal sinuses. Acta Otorhinolaryngol Belg 1997, 51:353-366.
6. Bush A., Chodhari R., Collins N., Copeland F., Hall P., Harcourt J., et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007, 92:1136-1140.
7. Chilvers M.A., O'Callaghan C. Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods. Thorax 2000, 55:314-317.
8. Santamaria F., de Santi M.M., Grillo G., Sarnelli P., Caterino M., Greco L. Ciliary motility at light microscopy: a screening technique for ciliary defects. Acta Paediatr 1999, 88:853-857.
9. Geremek M., Witt M. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. J Appl Genet 2004, 45:347-361.
10. Lonergan K.M., Chari R., Deleeuw R.J., Shadeo A., Chi B., Tsao M.S., et al. Identification of novel lung genes in bronchial epithelium by serial analysis of gene expression. Am J Respir Cell Mol Biol 2006, 35:651-661.
11. Salathe M., Bookman R.J. Mode of Ca2+ action on ciliary beat frequency in single ovine airway epithelial cells. J Physiol 1999, 520(Pt 3):851-865.
12. Nlend M.C., Bookman R.J., Conner G.E., Salathe M. Regulator of G-protein signaling protein 2 modulates purinergic calcium and ciliary beat frequency responses in airway epithelia. Am J Respir Cell Mol Biol 2002, 27:436-445.
13. Chilvers M.A., Rutman A., O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol 2003, 112:518-524.
14. Armengot M., Ruiz G., Romero de Avila C., Carda C., Basterra J. Diagnostic usefulness of radioisotope study of nasal mucociliary transport in patients with recurrent respiratory infections. Rev Esp med Nucl 1998, 17:21-26.
15. Armengot Carceller M., Carda Batalla C., Escribano A., Samper G.J. Study of mucociliary transport and nasal ciliary ultrastructure in patients with Kartagener's syndrome. Arch Bronconeumol 2005, 41:11-15.
16. Carlen B., Stenram U. Primary ciliary dyskinesia: a review. Ultrastruct Pathol 2005, 29:217-220.
17. Rossman C.M, Lee R.M, Forrest J.B, Newhouse M.T Nasal ciliary structure and function in patients with primary ciliary dyskinesia compared with that in normal subjects with various respiratory diseases. Am Rev Respir Dis 1984, 129:161-167.
18. Marthin J.K., Mortensen J., Pressler T., Nielsen K.G. Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia. Chest 2007, 132:966-976.
19. De Boeck K., Proesmans M., Mortelmans L., Van Billoen B., Willems T., Jorissen M. Mucociliary transport using 99mTc-albumin colloid: a reliable screening test for primary ciliary dyskinesia. Thorax 2005, 60:414-417.
20. Chilvers M.A., Rutman A., O'Callaghan C. Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults. Thorax 2003, 58:333-338.
21. de Iongh R.U., Rutland J. Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. Am J Respir Crit Care Med 1995, 151:1559-1567.
22. Rossman C.M., Forrest J.B., Lee R.M., Newhouse A.F., Newhouse M.T. The dyskinetic cilia syndrome; abnormal ciliary motility in association with abnormal ciliary ultrastructure. Chest 1981, 80(6 Suppl):860-865.
23. Pedersen M. Specific types of abnormal ciliary motility in Kartagener's syndrome and analogous respiratory disorders. A quantified microphoto-oscillographic investigation of 27 patients. Eur J Respir Dis Suppl 1983, 127:78-90.
24. Armengot M., Milara J., Mata M., Carda C., Cortijo J. Cilia motility and structure in primary and secondary ciliary dyskinesia. Am J Rhinol Allergy 2010, 24:175-180.
25. Milara J., Armengot M., Mata M., Morcillo E.J., Cortijo J. Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. Am J Rhinol Allergy 2010, 24:181-185.
26. Armengot Carceller M., Mata Roig M., Milara Payá X., Cortijo Gimeno J. Primary ciliary dyskinesia. Ciliopathies. Acta Otorrinolaringol Esp 2010, 61:149-159.