The DOI matches its Crossref record; 107 of the 107 references it cites were found in a registry or an index.
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Open accessAbstract
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no “gold standard” reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care, a systematic review of the literature, and assessment of the evidence using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. It focuses on clinical presentation, nasal nitric oxide, analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis, transmission electron microscopy, genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally, this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia.
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GRADE guidelines: 3. Rating the quality of evidence
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Towards better clinical prediction models: seven steps for development and an ABCD for validation
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GRADE guidelines: 2. Framing the question and deciding on important outcomes
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Grading quality of evidence and strength of recommendations for diagnostic tests and strategies
Schünemann, H. J., Oxman, A. D., Brozek, J., Glasziou, P., Jaeschke, R., Vist, G. E., Williams, J. W., Kunz, R., Craig, J., Montori, V. M., et al. (2008) · BMJ · doi:10.1136/bmj.39500.677199.ae · Cited by 1,782
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A Human Syndrome Caused by Immotile Cilia
Afzelius, B. A. (1976) · Science · doi:10.1126/science.1084576 · Cited by 1,257
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
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Cited by
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Wallmeier, J., Nielsen, K. G., Kuehni, C. E., Lucas, J. S., Leigh, M. W., Zariwala, M. A., & Omran, H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0209-6 · Cited by 403
Self-citationAirway Epithelial Differentiation and Mucociliary Clearance
Whitsett, J. A. (2018) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201802-128aw · Cited by 328
Motile cilia and airway disease
Legendre, M., Zaragosi, L.-E., & Mitchison, H. M. (2021) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2020.11.007 · Cited by 175
Self-citationAdvances in the Genetics of Primary Ciliary Dyskinesia
Horani, A., & Ferkol, T. W. (2018) · Chest · doi:10.1016/j.chest.2018.05.007 · Cited by 147
Metadata
- Authors
- Lucas, J. S., Barbato, A., Collins, S. A., Goutaki, M., Behan, L., Caudri, D., Dell, S., Eber, E., Escudier, E., Hirst, R. A., Hogg, C., Jorissen, M., Latzin, P., Legendre, M., Leigh, M. W., Midulla, F., Nielsen, K. G., Omran, H., Papon, J.-F., Pohunek, P., Redfern, B., Rigau, D., Rindlisbacher, B., Santamaria, F., Shoemark, A., Snijders, D., Tonia, T., Titieni, A., Walker, W. T., Werner, C., Bush, A., & Kuehni, C. E.
- Venue
- European Respiratory Journal
- Publisher
- European Respiratory Society (ERS)
- Published
- 2016-11-11
- Volume
- 49
- Issue
- 1
- Pages
- 1601090
- ISSN
- 0903-1936 (ISSN-L)
- 1399-3003
- OpenAlex
- W2554519038
- Cited by
- 698
- References
- 107
- FWCI
- 49.26
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Lucas, J. S., Barbato, A., Collins, S. A., Goutaki, M., Behan, L., Caudri, D., Dell, S., Eber, E., Escudier, E., Hirst, R. A., Hogg, C., Jorissen, M., Latzin, P., Legendre, M., Leigh, M. W., Midulla, F., Nielsen, K. G., Omran, H., Papon, J.-F., . . . Kuehni, C. E. (2017). European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. European Respiratory Journal. https://doi.org/10.1183/13993003.01090-2016
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
