Literature DB >> 19720631

High prevalence of primary ciliary dyskinesia in a British Asian population.

C O'Callaghan1, P Chetcuti, E Moya.   

Abstract

Determining the prevalence of primary ciliary dyskinesia (PCD) in different populations has proved difficult, with estimates varying between one in 4000 to one in 40,000. The aim of this study was to determine the incidence of PCD in a well-defined highly consanguineous Asian population in the UK. Over a 15-year period all patients suspected of having PCD in the Asian population of Bradford, UK, were tested by measurement of ciliary beat pattern, frequency and electron microscopy. The prevalence of PCD in the population studied was one in 2265. 52% of the patients' parents were first cousins. All patients had a history of chronic cough and nasal symptoms from the first year of life. 73% had a history of neonatal respiratory distress. Clinical suspicion of PCD should be high in populations in which it is possible that high levels of consanguinity may result in an increase in those with PCD. In these communities the combination of chronic cough and nasal symptoms should prompt early diagnostic testing.

Entities:  

Mesh:

Year:  2009        PMID: 19720631     DOI: 10.1136/adc.2009.158493

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  34 in total

1.  Primary ciliary dyskinesia: keep it on your radar.

Authors:  Margaret Rosenfeld; Lawrence E Ostrowski; Maimoona A Zariwala
Journal:  Thorax       Date:  2017-11-13       Impact factor: 9.139

Review 2.  Seeing cilia: imaging modalities for ciliary motion and clinical connections.

Authors:  Jacelyn E Peabody; Ren-Jay Shei; Brent M Bermingham; Scott E Phillips; Brett Turner; Steven M Rowe; George M Solomon
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2018-03-01       Impact factor: 5.464

Review 3.  The emerging genetics of primary ciliary dyskinesia.

Authors:  Maimoona A Zariwala; Heymut Omran; Thomas W Ferkol
Journal:  Proc Am Thorac Soc       Date:  2011-09

Review 4.  Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.

Authors:  Michael R Knowles; Leigh Anne Daniels; Stephanie D Davis; Maimoona A Zariwala; Margaret W Leigh
Journal:  Am J Respir Crit Care Med       Date:  2013-10-15       Impact factor: 21.405

5.  Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images.

Authors:  Mary A K Olm; João E Kögler; Mariangela Macchione; Amelia Shoemark; Paulo H N Saldiva; Joaquim C Rodrigues
Journal:  J Appl Physiol (1985)       Date:  2011-05-05

6.  Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran.

Authors:  Shakiba Hassanzadeh; Somayeh Sadeghi; Mahbube Jafari; Somayeh Najafi; Newsha Molavi; Roya Sherkat
Journal:  Ir J Med Sci       Date:  2022-04-07       Impact factor: 1.568

7.  High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Authors:  Amelia Shoemark; Eduardo Moya; Robert A Hirst; Mitali P Patel; Evelyn A Robson; Jane Hayward; Juliet Scully; Mahmoud R Fassad; William Lamb; Miriam Schmidts; Mellisa Dixon; Ramila S Patel-King; Andrew V Rogers; Andrew Rutman; Claire L Jackson; Patricia Goggin; Bruna Rubbo; Sarah Ollosson; Siobhán Carr; Woolf Walker; Beryl Adler; Michael R Loebinger; Robert Wilson; Andrew Bush; Hywel Williams; Christopher Boustred; Lucy Jenkins; Eamonn Sheridan; Eddie M K Chung; Christopher M Watson; Thomas Cullup; Jane S Lucas; Priti Kenia; Christopher O'Callaghan; Stephen M King; Claire Hogg; Hannah M Mitchison
Journal:  Thorax       Date:  2017-08-08       Impact factor: 9.139

8.  Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.

Authors:  Yuhong Guan; Haiming Yang; Xingfeng Yao; Hui Xu; Hui Liu; Xiaolei Tang; Chanjuan Hao; Xiang Zhang; Shunying Zhao; Wentong Ge; Xin Ni
Journal:  Chest       Date:  2021-02-10       Impact factor: 9.410

9.  CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia.

Authors:  Pedro Sampaio; Mónica Ferro da Silva; Inês Vale; Mónica Roxo-Rosa; Andreia Pinto; Carolina Constant; Luisa Pereira; Carla M Quintão; Susana S Lopes
Journal:  ERJ Open Res       Date:  2021-02-08

10.  Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

Authors:  Alexandros Onoufriadis; Tamara Paff; Dinu Antony; Amelia Shoemark; Dimitra Micha; Bertus Kuyt; Miriam Schmidts; Stavroula Petridi; Jeanette E Dankert-Roelse; Eric G Haarman; Johannes M A Daniels; Richard D Emes; Robert Wilson; Claire Hogg; Peter J Scambler; Eddie M K Chung; Gerard Pals; Hannah M Mitchison
Journal:  Am J Hum Genet       Date:  2012-12-20       Impact factor: 11.025

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