Title |
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
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Published in |
Orphanet Journal of Rare Diseases, January 2014
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DOI | 10.1186/1750-1172-9-11 |
Pubmed ID | |
Authors |
Mieke Boon, Anne Smits, Harry Cuppens, Martine Jaspers, Marijke Proesmans, Lieven J Dupont, Francois L Vermeulen, Sabine Van Daele, Anne Malfroot, Veronique Godding, Mark Jorissen, Kris De Boeck |
Abstract |
Primary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. To date, mutations in more than 20 different genes have been found. At present, PCD subtypes are described according to the ultrastructural defect on transmission electron microscopy (TEM) of the motile cilia. PCD with normal ultrastructure (NU) is rarely reported because it requires additional testing. Biallelic mutations in DNAH11 have been described as one cause of PCD with NU.The aim of our study was to describe the clinical characteristics of a large population of patients with PCD, in relation to the ultrastructural defect. Additionally, we aimed to demonstrate the need for biopsy and cell culture to reliably diagnose PCD, especially the NU subtype. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 3 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Scientists | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 1% |
Portugal | 1 | 1% |
Germany | 1 | 1% |
Unknown | 89 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 17 | 18% |
Researcher | 15 | 16% |
Student > Ph. D. Student | 10 | 11% |
Other | 9 | 10% |
Student > Bachelor | 9 | 10% |
Other | 15 | 16% |
Unknown | 17 | 18% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 36 | 39% |
Agricultural and Biological Sciences | 16 | 17% |
Biochemistry, Genetics and Molecular Biology | 9 | 10% |
Engineering | 3 | 3% |
Nursing and Health Professions | 2 | 2% |
Other | 7 | 8% |
Unknown | 19 | 21% |