The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Primary Ciliary Dyskinesia: Diagnostic and Phenotypic Features
Abstract
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. We hypothesized that the major clinical and biologic phenotypic markers of the disease could be evaluated by studying a cohort of subjects suspected of having PCD. Of 110 subjects evaluated, PCD was diagnosed in 78 subjects using a combination of compatible clinical features coupled with tests of ciliary ultrastructure and function. Chronic rhinitis/sinusitis (n = 78; 100%), recurrent otitis media (n = 74; 95%), neonatal respiratory symptoms (n = 57; 73%), and situs inversus (n = 43; 55%) are strong phenotypic markers of the disease. Mucoid Pseudomonas aeruginosa (n = 12; 15%) and nontuberculous mycobacteria (n = 8; 10%) were present in older (> 30 years) patients with PCD. All subjects had defects in ciliary structure, 66% in the outer dynein arm. Nasal nitric oxide production was very low in PCD (nl/minute; 19 +/- 17 vs. 376 +/- 124 in normal control subjects). Rigorous clinical and ciliary phenotyping and measures of nasal nitric oxide are useful for the diagnosis of PCD. An increased awareness of the clinical presentation and diagnostic criteria for PCD will help lead to better diagnosis and care for this orphan disease.
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Highsmith, W. E., Burch, L. H., Zhou, Z., Olsen, J. C., Boat, T. E., Spock, A., Gorvoy, J. D., Quittell, L., Friedman, K. J., Silverman, L. M., et al. (1994) · New England Journal of Medicine · doi:10.1056/nejm199410133311503 · Cited by 441
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Cited by
Griffith, D. E., Aksamit, T., Brown-Elliott, B. A., Catanzaro, A., Daley, C., Gordin, F., Holland, S. M., Horsburgh, R., Huitt, G., Iademarco, M. F., et al. (2007) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200604-571st · Cited by 6,110
Allergic Rhinitis and its Impact on Asthma (ARIA) 2008*
Bousquet, J., Khaltaev, N., Cruz, A. A., Denburg, J., Fokkens, W. J., Togias, A., Zuberbier, T., Baena‐Cagnani, C. E., Canonica, G. W., Van Weel, C., et al. (2008) · Allergy · doi:10.1111/j.1398-9995.2007.01620.x · Cited by 4,729
(2005) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200406-710st · Cited by 3,203
Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines: 2010 Revision
Brożek, J. L., Bousquet, J., Baena-Cagnani, C. E., Bonini, S., Canonica, G. W., Casale, T. B., van Wijk, R. G., Ohta, K., Zuberbier, T., & Schünemann, H. J. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.06.047 · Cited by 1,813
Overview of Structure and Function of Mammalian Cilia
Satir, P., & Christensen, S. T. (2007) · Annual Review of Physiology · doi:10.1146/annurev.physiol.69.040705.141236 · Cited by 1,142
Metadata
- Authors
- Noone, P. G., Leigh, M. W., Sannuti, A., Minnix, S. L., Carson, J. L., Hazucha, M., Zariwala, M. A., & Knowles, M. R.
- Venue
- American Journal of Respiratory and Critical Care Medicine
- Publisher
- Oxford University Press (OUP)
- Published
- 2004-02-15
- Volume
- 169
- Issue
- 4
- Pages
- 459-467
- ISSN
- 1073-449X (ISSN-L)
- 1535-4970
- OpenAlex
- W2115068324
- Cited by
- 843
- References
- 1
- FWCI
- 18.26
- Type
- journal article
- Language
- en
- Open access
- closed
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- Noone, P. G., Leigh, M. W., Sannuti, A., Minnix, S. L., Carson, J. L., Hazucha, M., Zariwala, M. A., & Knowles, M. R. (2004). Primary Ciliary Dyskinesia: Diagnostic and Phenotypic Features. American Journal of Respiratory and Critical Care Medicine. https://doi.org/10.1164/rccm.200303-365oc
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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