The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype
Open accessAbstract
RATIONALE: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. OBJECTIVES: To delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype. METHODS: A total of 118 participants younger than 19 years old with PCD were evaluated prospectively at six centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, and clinical phenotyping. MEASUREMENTS AND MAIN RESULTS: Clinical features included neonatal respiratory distress (82%), chronic cough (99%), and chronic nasal congestion (97%). There were no differences in clinical features or respiratory pathogens in subjects with outer dynein arm (ODA) defects (ODA alone; n = 54) and ODA plus inner dynein arm (IDA) defects (ODA + IDA; n = 18) versus subjects with IDA and central apparatus defects with microtubular disorganization (IDA/CA/MTD; n = 40). Median FEV1 was worse in the IDA/CA/MTD group (72% predicted) versus the combined ODA groups (92% predicted; P = 0.003). Median body mass index was lower in the IDA/CA/MTD group (46th percentile) versus the ODA groups (70th percentile; P = 0.003). For all 118 subjects, median number of lobes with bronchiectasis was three and alveolar consolidation was two. However, the 5- to 11-year-old IDA/CA/MTD group had more lobes of bronchiectasis (median, 5; P = 0.0008) and consolidation (median, 3; P = 0.0001) compared with the ODA groups (median, 3 and 2, respectively). Similar findings were observed when limited to participants with biallelic mutations. CONCLUSIONS: Lung disease was heterogeneous across all ultrastructural and genotype groups, but worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40.
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Self-citationPrimary Ciliary Dyskinesia: Diagnostic and Phenotypic Features
Noone, P. G., Leigh, M. W., Sannuti, A., Minnix, S. L., Carson, J. L., Hazucha, M., Zariwala, M. A., & Knowles, M. R. (2004) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200303-365oc · Cited by 843
Self-citationReference Ranges for Spirometry Across All Ages: A New Approach
Stanojevic, S., Wade, A., Stocks, J., Hankinson, J., Coates, A. L., Pan, H., Rosenthal, M., Corey, M., Lebecque, P., & Cole, T. J. (2008) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200708-1248oc · Cited by 699
Knowles, M. R., Daniels, L. A., Davis, S. D., Zariwala, M. A., & Leigh, M. W. (2013) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201301-0059ci · Cited by 517
Self-citationClinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
Leigh, M. W., Pittman, J. E., Carson, J. L., Ferkol, T. W., Dell, S. D., Davis, S. D., Knowles, M. R., & Zariwala, M. A. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181a53562 · Cited by 470
Self-citationThe dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella
Heuser, T., Raytchev, M., Krell, J., Porter, M. E., & Nicastro, D. (2009) · Journal of Cell Biology · doi:10.1083/jcb.200908067 · Cited by 351
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Becker-Heck, A., Zohn, I. E., Okabe, N., Pollock, A., Lenhart, K. B., Sullivan-Brown, J., McSheene, J., Loges, N. T., Olbrich, H., Haeffner, K., et al. (2011) · Nature Genetics · doi:10.1038/ng.727 · Cited by 334
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Cited by
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Lucas, J. S., Barbato, A., Collins, S. A., Goutaki, M., Behan, L., Caudri, D., Dell, S., Eber, E., Escudier, E., Hirst, R. A., et al. (2017) · European Respiratory Journal · doi:10.1183/13993003.01090-2016 · Cited by 698
Self-citationMotile and non-motile cilia in human pathology: From function to phenotypes
Mitchison, H. M., & Valente, E. M. (2017) · The Journal of Pathology · doi:10.1002/path.4843 · Cited by 448
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-citationGenetics and biology of primary ciliary dyskinesia
Horani, A., Ferkol, T. W., Dutcher, S. K., & Brody, S. L. (2016) · Paediatric Respiratory Reviews · doi:10.1016/j.prrv.2015.09.001 · Cited by 197
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
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Metadata
- Authors
- Davis, S. D., Ferkol, T. W., Rosenfeld, M., Lee, H.-S., Dell, S. D., Sagel, S. D., Milla, C., Zariwala, M. A., Pittman, J. E., Shapiro, A. J., Carson, J. L., Krischer, J. P., Hazucha, M. J., Cooper, M. L., Knowles, M. R., & Leigh, M. W.
- Venue
- American Journal of Respiratory and Critical Care Medicine
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-02-01
- Volume
- 191
- Issue
- 3
- Pages
- 316-324
- ISSN
- 1073-449X (ISSN-L)
- 1535-4970
- OpenAlex
- W1977173098
- Cited by
- 277
- References
- 35
- FWCI
- 15.51
- Type
- journal article
- Language
- en
- Open access
- green
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- Davis, S. D., Ferkol, T. W., Rosenfeld, M., Lee, H.-S., Dell, S. D., Sagel, S. D., Milla, C., Zariwala, M. A., Pittman, J. E., Shapiro, A. J., Carson, J. L., Krischer, J. P., Hazucha, M. J., Cooper, M. L., Knowles, M. R., & Leigh, M. W. (2015). Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype. American Journal of Respiratory and Critical Care Medicine. https://doi.org/10.1164/rccm.201409-1672oc
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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.
