Results 11 to 20 of about 16,014 (252)

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar [PDF]

Clinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab, Reem Mohamed, Adila A. Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
openalex   +2 more sources

Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

ERJ Open Research, 2021
Objectives Disease-specific, well-defined and validated clinical outcome measures are essential in designing research studies. Poorly defined outcome measures hamper pooling of data and comparisons between studies.
Florian Gahleitner, James Thompson, Claire L. Jackson, Jana F. Hueppe, Laura Behan, Eleonora Dehlink, Myrofora Goutaki, Florian Halbeisen, Ana Paula L. Queiroz, Guillaume Thouvenin, Claudia E. Kuehni, Philipp Latzin, Jane S. Lucas, Bruna Rubbo   +13 more
doaj   +1 more source

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
  +5 more sources

Primary ciliary dyskinesia [PDF]

Archives of Disease in Childhood, 2002
Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed.
Bush, A, O'Callaghan, C
openaire   +5 more sources

An international survey on nasal nitric oxide measurement practices for the diagnosis of primary ciliary dyskinesia

ERJ Open Research, 2022
Nasal nitric oxide (nNO) measurements are used in the assessment of patients suspected of having primary ciliary dyskinesia (PCD), but recommendations for performing such measurements have not focused on children and do not include all current practices.
Nicole Beydon, Thomas Ferkol, Amanda Lea Harris, Murielle Colas, Stephanie D. Davis, Eric Haarman, Claire Hogg, Emma Kilbride, Panayotis Kouis, Claudia E. Kuehni, Philipp Latzin, Diana Marangu, June Marthin, Kim G. Nielsen, Phil Robinson, Nisreen Rumman, Matthew Rutter, Woolf Walker, Jane S. Lucas   +18 more
doaj   +1 more source

DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation. [PDF]

Orphanet J Rare Dis
Zheng R, Yang W, Yan J, Guo Z, Chen W, Chen L, Xu W.   +6 more
europepmc   +3 more sources

Identification of a Novel <i>DNAAF3</i> Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD). [PDF]

Case Rep Genet
Primary ciliary dyskinesia (PCD) is a rare and heterogeneous inherited disease characterized by impaired mucociliary clearance. Patients with PCD typically present with recurrent respiratory infections resulting in the development of bronchiectasis. Even though awareness of the disease has increased over the years, PCD remains underdiagnosed.
Wirtz MM, Ebner S, Pleyers A, Firlei-Fleischmann N, Untersteiner R, Studnicka M.   +5 more
europepmc   +2 more sources

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

BMC Proceedings, 2020
Primary ciliary dyskinesia (PCD) is an inherited ciliopathy leading to chronic suppurative lung disease, chronic rhinosinusitis, middle ear disease, sub-fertility and situs abnormalities.
Laura E. Gardner, Katie L. Horton, Amelia Shoemark, Jane S. Lucas, Kim G. Nielsen, Helene Kobbernagel, Bruna Rubbo, Robert A. Hirst, Panayiotis Kouis, Nicola Ullmann, Ana Reula, Nisreen Rumman, Hannah M. Mitchison, Andreia Pinto, Charlotte Richardson, Anne Schmidt, James Thompson, René Gaupmann, Maciej Dabrowski, Pleasantine Mill, Siobhan B. Carr, Dominic P. Norris, Claudia E. Kuehni, Myrofora Goutaki, Claire Hogg   +24 more
doaj   +1 more source

Computed Tomography Evaluation of the Paranasal Sinuses in Adults with Primary Ciliary Dyskinesia

International Archives of Otorhinolaryngology, 2023
Introduction Primary ciliary dyskinesia is a rare inherited disease that results in a malfunction of mucociliary clearance and sinonasal complaints.
Diogo Barreto Plantier, Renata R. M. Pilan, Rodrigo Athanazio, Mary Anne K. Olm, Eloisa M. S. Gebrim, Richard Louis Voegels   +5 more
doaj   +1 more source

The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia [PDF]

, 2020
We welcome the correspondence from Lavie and Amirav (1), highlighting the difficulties diagnosing primary ciliary dyskinesia (PCD) and the role of high-speed video analysis (HSVA).
Haarman, Eric, Hirst, Robert A., Hogg, Claire, Jackson, Claire L., Lucas, Jane S., Nielsen, Kim G., Papon, Jean Francois, Robinson, Philip, Rubbo, Bruna, Shoemark, Amelia, Walker, Woolf T.   +10 more
core   +3 more sources