Results 31 to 40 of about 16,014 (252)

Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1

BMC Proceedings, 2018
Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs.
Florian Halbeisen, Claire Hogg, Mikkel C. Alanin, Zuzanna Bukowy-Bieryllo, Francisco Dasi, Julie Duncan, Amanda Friend, Myrofora Goutaki, Claire Jackson, Victoria Keenan, Amanda Harris, Robert A. Hirst, Philipp Latzin, Gemma Marsh, Kim Nielsen, Dominic Norris, Daniel Pellicer, Ana Reula, Bruna Rubbo, Nisreen Rumman, Amelia Shoemark, Woolf T. Walker, Claudia E. Kuehni, Jane S. Lucas   +23 more
doaj   +1 more source

ciliaFA : a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software [PDF]

, 2012
Background: Analysis of ciliary function for assessment of patients suspected of primary ciliary dyskinesia (PCD) and for research studies of respiratory and ependymal cilia requires assessment of both ciliary beat pattern and beat frequency.
C O’Callaghan, CL O’Callaghan, CM Smith, CW Wilson, EE Davis, G Mantovani, JH Sisson, JJ Ballenger, JR Kennedy, M Ryser, MA Chilvers, MA Chilvers, RA Hirst, RA Hirst, RA Hirst, S Dimova, TJ Mitchell, WA Stannard, WI Lee, WS Rasband   +19 more
core   +1 more source

Outcomes of Endoscopic Sinus Surgery for Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia

International Archives of Otorhinolaryngology, 2023
Introduction Primary ciliary dyskinesia (PCD) is a rare inherited disease associated with impairment of mucociliary transport and, consequently, with a high incidence of chronic rhinosinusitis.
Diogo Barreto Plantier, Fábio de Rezende Pinna, Mary Anne Kowal Olm, Rodrigo Athanázio, Renata Ribeiro de Mendonça Pilan, Richard Louis Voegels   +5 more
doaj   +1 more source

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]

, 2016
The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina, John, Emily, Mahjoub, Moe R, Mitchell, Brian J, Moresco, James J, Silva, Erica, Spear, Philip, Yates, John R, III, Zhang, Siwei   +8 more
core   +2 more sources

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 ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +3 more sources

Sperm defects in primary ciliary dyskinesia and related causes of male infertility [PDF]

, 2020
The core axoneme structure of both the motile cilium and sperm tail has the same ultrastructural 9 + 2 microtubular arrangement. Thus, it can be expected that genetic defects in motile cilia also have an effect on sperm tail formation.
Loebinger, Michael R., Mitchison, Hannah M., Patel, Mitali, Shoemark, Amelia, Sironen, Anu   +4 more
core   +2 more sources

Health related quality of life in adult primary Ciliary dyskinesia patients in Cyprus: development and validation of the Greek version of the QOL-PCD questionnaire

Health and Quality of Life Outcomes, 2020
Background The QOL-PCD questionnaire is a recently developed Health Related Quality of Life (HRQoL) instrument for Primary Ciliary Dyskinesia. The aim of this study was to translate the adult QOL-PCD questionnaire into Greek language and to conduct ...
Phivos Ioannou, Panayiotis Kouis, Maria G. Kakkoura, Margarita Kaliva, Aristoula Toliopoulou, Kyriacos Andreou, Laura Behan, Jane S. Lucas, Vicky Papanikolaou, George Charalambous, Nicos Middleton, Panayiotis K. Yiallouros   +11 more
doaj   +1 more source

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies [PDF]

, 2017
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Abete, Afzelius, Afzelius, Afzelius, Alanin, Altenburg, Bartoloni, Behan, Bhatt, Bilton, Boaretto, Boe, Boon, Boon, Boon, Bradley, Brenner, Brown, Bush, Bush, Campbell, Carotenuto, Chang, Chang, Chernick, Cohen-Cymberknoh, Cole, Coren, Davis, Daviskas, De Benedetti, Desai, Deuse, Eastham, El-Abiad, Eliasson, Elkins, Ellerman, Fedakar, Ferkol, Ferkol, Fliegauf, Fliegauf, Flume, Fokkens, Fretzayas, Frommer, Fuchs, Gokdemir, Goutaki, Halbert, Hart, Hellinckx, Hill, Horani, Horani, Irving, Jeanson, Kartagener, Kellett, Kennedy, Kennedy, Kennedy, Kim, King, Knowles, Knowles, Knowles, Kobbernagel, Konstan, Kott, Kuehni, Kumar, Lai, Lebl, Leigh, Lucas, Lucas, Lucas, Lucas, Macchiarini, Mackerness, Madsen, Maglione, Maglione, Manna, Marks, Marthin, Marthin, Marthin, Mateos-Corral, McManus, Merveille, Mirra, Mitchison, Montella, Montella, Montella, Montella, Moore, Mossberg, Mullowney, Munro, Nakhleh, Nicolson, Noone, Noone, Oktem, Olbrich, Omran, Onoufriadis, Onoufriadis, O’Callaghan, O’Callaghan, Paff, Paff, Papon, Pasteur, Patella, Phillips, Picot, Pifferi, Potter, Prulière-Escabasse, Raidt, Rogers, Rutland, Sagel, Santamaria, Santamaria, Schwabe, Serisier, Shah, Shapiro, Shoemark, Sommer, Spagnolo, Stenbit, Stillwell, Sturgess, Svobodova, ten Berge, Valerio, Walker, Wallmeier, Werner, Werner, Wirschell, Wong, Yan-Wei, Zimmerman   +150 more
core   +1 more source

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia [PDF]

, 2016
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a
Behan, Laura, Carroll, Mary, Dimitrov, Borislav D., Evans, Hazel J., Goutaki, Myrofora, Harris, Amanda, Hogg, Claire, Kuehni, Claudia E., Lucas, Jane S., Packham, Samantha, Walker, Woolf T.   +10 more
core   +1 more source

Primary Ciliary Dyskinesia Registry [PDF]

Patient Safety and Quality Improvement Journal
Introduction:Primary ciliary dyskinesia (PCD) is a rare genetic disease that is estimated to occur in about 1 in 15,000 people. A patient registry is a well-known tool for collecting a sufficient number of patients with a rare disease to evaluate and ...
Mohammadreza Modaresi, Nasrin Jalalimanesh, Shaghayegh Rahmani   +2 more
doaj   +1 more source