Results 161 to 170 of about 9,533 (204)

PCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients-a multicenter derivation and external validation study. [PDF]

BMC Med
Zhou W, Wang L, Chen Q, Wang Y, Pang H, Guo A, Wu A, Liu X, Dai J, Meng S, Wang R, Yang D, Liu Y, Zhu W, Xu KF, Zhang X, Luo H, Tian X.   +17 more
europepmc   +1 more source

Case report: novel <i>DNAH11</i> compound heterozygous variants including an exon 30-54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype. [PDF]

Front Genet
Wang S, Zhang Y, Wu M, He Y, Chen S, Xu X, Lv M, Ji J, Wang Y.   +8 more
europepmc   +1 more source

Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia.

JAMA Netw Open
De Jesús-Rojas W, Guerra-Torres KP, Rosado-Ayala AJ, Acevedo-Soto EL, Ramos-Benitez MJ, Mosquera RA.   +5 more
europepmc   +1 more source

Primary Ciliary Dyskinesia: Ciliary Activity [PDF]

Acta Oto-Laryngologica, 1986
In primary ciliary dyskinesia (PCD) the cilia of the respiratory tract are immotile or they show an incoordinate, abnormal beating pattern. Consequently, mucociliary clearance is lacking. Most patients with PCD have ultrastructural abnormalities in their cilia. In some patients, however, the ciliary ultrastructure is completely normal.
van der Baan, S., Veerman, A. J., Wulffraat, N., Bezemer, P. D., Feenstra, L.   +4 more
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Primary ciliary dyskinesia

La Presse Médicale, 2023
Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD ...
Johanna Raidt, Niki Tomas Loges, Heike Olbrich, Julia Wallmeier, Petra Pennekamp, Heymut Omran   +5 more
openaire   +3 more sources

Primary Ciliary Dyskinesia

Seminars in Respiratory and Critical Care Medicine, 2021
AbstractPrimary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated PCD prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis is 1 to 13%. Due to dysfunction of the multiple motile cilia of the respiratory tract patients suffer from poor mucociliary clearance.
Shoemark, Amelia, Harman, Katharine
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Primary Ciliary Dyskinesia

Pediatrics In Review, 2017
1. Rebecca Butterfield, MD* 1. *Albany Medical Center, Albany, NY 1. 1. Stillwell PC, 2. Wartchow EP, 3. Sagel SD Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists. Stillwell PC, Wartchow EP, Sagel SD. Pediatr Allergy Immunol Pulmonol.
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Primary Ciliary Dyskinesia: A Review

Ultrastructural Pathology, 2005
The entity sinusitis, bronchiectasis, and situs inversus is since long named Kartagener syndrome. Nowadays the designation used is primary ciliary dyskinesia (PCD), which implies cilia with decreased or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis, and male infertility.
Birgitta, Carlén, Unne, Stenram
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Primary ciliary dyskinesia. Ciliopathies

Acta Otorrinolaringologica (English Edition), 2010
Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome).
Miguel, Armengot Carceller, Manuel, Mata Roig, Xavier, Milara Payá, Julio, Cortijo Gimeno   +3 more
openaire   +2 more sources