Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia
نویسندگان
چکیده
منابع مشابه
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spectrum of HVMA findings in PCD from grossly abnormal to very subtle. The objective of this study w...
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We thank Dr Mao and colleagues for their comments on our article in CHEST . 1 Investigations on lung transplantation are often single-center studies with limited external validity; thus, including data from two study sites strengthened our investigation. An analysis by study site showed comparable results for allograft function, and introducing study site as a variable into the Cox proportional...
متن کاملCiliary defects and genetics of primary ciliary dyskinesia.
Cilia are evolutionarily conserved structures that play key roles in diverse cell types. Motile cilia are involved in the most prominent ciliopathy called primary ciliary dyskinesia (PCD) that combines respiratory symptoms, male infertility, and, in nearly 50% cases, situs inversus. The diagnosis of PCD relies on the identification of ciliary abnormalities that mainly concern outer and/or inner...
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Primary ciliary dyskinesia (PCD) is a genetic disorder of cilia structure and function, chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. Establishing a definitive diagnosis can be challenging, requiring a compatible phenotype and detection of ciliary functional and ultra-structural defects, along with newer screening tools such as nasal nitric o...
متن کاملPrimary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2003
ISSN: 0091-6749
DOI: 10.1016/s0091-6749(03)01799-8