Transmission Electron Microscopy in the Diagnosis of Primary Ciliary Dyskinesia
نویسندگان
چکیده
منابع مشابه
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia.
Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis of primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results. TEM analysis performed in 1,149 patients with suspected PCD was retrospectively reviewed. Biopsies (1,450) were obtai...
متن کاملDiagnosis of primary ciliary dyskinesia*
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigatio...
متن کاملDiagnosis and management of primary ciliary dyskinesia
Primary Ciliary Dyskinesia Centre, Southampton Children’s Hospital, Southampton NHS Foundation Trust, Southampton, UK Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK Division of Services for Women and Ch...
متن کاملAccuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
RATIONALE The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unkno...
متن کاملPrimary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome.
Primary ciliary dyskinesia (PCD) is associated with abnormalities in the structure of a function of motile cilia, causing impairment of muco-ciliary clearence, with bacterial overinfection of the upper and lower respiratory tract (chronic oto-sino-pulmonary disease), heterotaxia (situs abnormalities), with/without congenital heart disease, abnormal sperm motility with male infertility, higher f...
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ژورنال
عنوان ژورنال: Upsala Journal of Medical Sciences
سال: 2006
ISSN: 0300-9734,2000-1967
DOI: 10.3109/2000-1967-010