Results 21 to 30 of about 9,533 (204)

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

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

Quantitative Assessment of Ciliary Ultrastructure with the Use of Automatic Analysis: PCD Quant

Diagnostics, 2021
The ciliary ultrastructure can be damaged in various situations. Such changes include primary defects found in primary ciliary dyskinesia (PCD) and secondary defects developing in secondary ciliary dyskinesia (SCD).
Andrea Felšöová, Tibor Sloboda, Lukáš Hudec, Miroslav Koblížek, Petr Pohunek, Vendula Martinů, Žofia Varényiová, Simona Kadlecová, Jiří Uhlík   +8 more
doaj   +1 more source

Primary ciliary dyskinesia: current state of the art [PDF]

, 2007
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive, and in classical form presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% cases.
Hall, Pippa, Collins, Nicola F., Hariri, Mohamed, Harcourt, Jonny, Chodhari, Rahul, Lucas, Jane, Phillips, Gill, Bush, Andrew, Copeland, Fiona, Hogg, Claire, O'Callaghan, Chriatopher   +10 more
core   +1 more source

Clinical care for primary ciliary dyskinesia: current challenges and future directions

European Respiratory Review, 2017
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major ...
Bruna Rubbo, Jane S. Lucas
doaj   +1 more source

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

ERJ Open Research, 2020
Clinical data on primary ciliary dyskinesia (PCD) are limited, heterogeneous and mostly derived from retrospective chart reviews, leading to missing data and unreliable symptoms and results of physical examinations.
Myrofora Goutaki, Jean-François Papon, Mieke Boon, Carmen Casaulta, Ernst Eber, Estelle Escudier, Florian S. Halbeisen, Amanda Harris, Claire Hogg, Isabelle Honore, Andreas Jung, Bulent Karadag, Cordula Koerner-Rettberg, Marie Legendre, Bernard Maitre, Kim G. Nielsen, Bruna Rubbo, Nisreen Rumman, Lynne Schofield, Amelia Shoemark, Guillaume Thouvenin, Hannah Willkins, Jane S. Lucas, Claudia E. Kuehni   +23 more
doaj   +1 more source

Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact [PDF]

, 2003
Although the pathophysiological defect in primary ciliary dyskinesia (PCD; Siewert's/Kartagener's syndrome) is now well characterised, there are few studies of the impact of the condition upon health function, particularly in later life.
I Christopher McManus, McManus, IC, Martin, N, Chung Eddie MK, Mitchison Hannah M, Mitchison, HM, Georgina F Stubbings, Chung, EM, Naomi Martin, Stubbings Georgina F, Martin Naomi, Hannah M Mitchison, Stubbings, GF, McManus I, Eddie MK Chung   +14 more
core   +1 more source

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Danke-Roelse, JE, Hart, S.L., Munye, Mustafa M., Scambler, PJ, Rosser, E.M., Hart, Stephen L, Beales, Philip L, Bacchelli, C, Moore, Anthony T., Chung, Eddie MK, Sloper, John J, Danke-Roelse, Jeannette E, Moore, A.T., Pals, Gerard, Beales, Philip L., Sloper, John J., Moore, Anthony T, Hogg, C, Hogg, C., Bacchelli, Chiara, Mitchison, Hannah M, Shoemark, A., Moore, AT, James, C.T., Scambler, Peter J, Chung, E.M.K., Rosser, Elisabeth M., Bacchelli, C., Shoemark, Amelia; id_orcid, Patel, M., Hogg, Claire, Onoufriadis, Alexandros, Schmidts, Miriam, Emes, R.D., Munye, Mustafa M, Hull, S., Sloper, JJ, Hull, Sarah, Beales, PL, Beales, P.L., Hart, Stephen L., Munye, MM, Schmidts, M, James, Chela T, Scambler, P.J., James, Chela T., Mitchison, H.M., nke-Roelse, J.E., Hull, S, Onoufriadis, A., Rosser, Elisabeth M, Emes, Richard D., Patel, Mitali, Pals, G., Mitchison, Hannah M., Patel, M, Pals, G, Emes, RD, Munye, M.M., James, CT, Schmidts, M., Danke-Roelse, Jeannette E., Chung, Eddie M.K., Shoemark, Amelia, Mitchison, HM, Emes, Richard D, Chung, EM, Shoemark, A, Onoufriadis, A, Sloper, J.J., Hart, SL, Rosser, EM, Scambler, Peter J.   +72 more
core   +1 more source

The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration [editorial]. [PDF]

, 2021
The BEAT-PCD ERS CRC is a large multidisciplinary network of researchers and healthcare professionals aiming to advance clinical and translational research in different areas of primary ciliary dyskinesia building upon previous collaborative ...
Kouis, Panayiotis, Gaupmann, René, Loges, Niki T, Lucas, Jane S, Lam, Yin Ting, Horton, Katie L., Dehlink, Eleonora, Lucas, Jane S., Goutaki, Myrofora, Horton, Katie L, Crowley, Suzanne, Shoemark, Amelia, ?, ?, Loges, Niki T., Roehmel, Jobst F, Shoemark, Amelia; id_orcid, Roehmel, Jobst F.   +16 more
core   +1 more source