Results 31 to 40 of about 4,530,510 (207)

Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia

Emerging Infectious Diseases, 2020
Primary ciliary dyskinesia is a rare autosomal recessive disorder that causes oto-sino-pulmonary disease. We report a case of pulmonary infection related to mimivirus in a 10-year-old boy with primary ciliary dyskinesia that was identified using ...
Fatemeh Sakhaee, Farzam Vaziri, Golnaz Bahramali, Seyed Davar Siadat, Abolfazl Fateh   +4 more
doaj   +1 more source

Diagnosing primary ciliary dyskinesia [PDF]

Thorax, 2007
A nationally funded diagnostic service should lead to improved outcome The National Specialist Commissioning Advisory Group (NSCAG) has funded three centres to establish and provide a national diagnostic service for England for children and adults suspected of suffering from primary ciliary dyskinesia (PCD).
O'Callaghan, C, Chilvers, M, Hogg, C, Bush, A, Lucas, J   +4 more
openaire   +4 more sources

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

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 in Amish Communities [PDF]

, 2010
Primary ciliary dyskinesia (PCD) is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, based on clinical ...
Bowcock, Anne M., Helms, Cynthia, Hazucha, Milan J., Forsen, James, Zariwala, Maimoona A., Carson, John L., Leigh, Margaret W., Brown, David E., Molter, David, Lie, Hauw, Ferkol, Thomas W., Knowles, Michael R.   +11 more
core   +1 more source

Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia [editorial]. [PDF]

, 2020
Primary ciliary dyskinesia, a rare disease causing bronchiectasis, lacks a sound evidence base for treatment. @beatpcd proposes 1) forming a PCD European clinical trial network to address this situation and 2) conducting n-of-1 trials to access ...
Pohunek, Petr, Valiulis, Arunas, Lucas, Jane S., Kuehn, Claudia E.,, Karadag, Bulent,, Crowley, Suzanne, Zivkovic, Zorica, Bush, Andrew,, Rindlisbacher, Bernhard,, Boon, Mieke, Kuehni, Claudia E, Moreno-Galdó, Antonio, Nielsen, Kim G.,, Nielsen, Kim G., Papon, Jean-François,, Nielsen, Kim G, Leigh, Margaret,, Azevedo, Inês, Crowley, Suzanne,, Haarman, Eric,, Santamaria, Francesca,, Eber, Ernst, Priftis, Kostas,, Kötz, Karsten,, Papon, Jean-François, Eber, Ernst,, Witt, Michal, Witt, Michal,, Moreno-Galdó, Antonio,, Karadag, Bulent, Azevedo, Inês,, Boon, Mieke,, Leigh, Margaret, Bush, Andrew, Haarman, Eric, Rindlisbacher, Bernhard, Omran, Heymut,, Yiallouros, Panayiotis, Santamaria, Francesca, Mussaffi, Huda,, Yiallouros, Panayiotis,, Pohunek, Petr,, Omran, Heymut, Lucas, Jane S, Zivkovic, Zorica,, Yiallouros, Panayitakis K, Priftis, Kostas, Lucas, Jane S.,, Mussaffi, Huda, Moreno Galdó, Antonio, Kuehni, Claudia E., Kötz, Karsten, Valiulis, Arūnas,   +52 more
core   +4 more sources

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

Diagnosing primary ciliary dyskinesia: a nationally funded diagnostic service should lead to improved outcome

, 2007
Diagnosing primary ciliary dyskinesia: a nationally funded diagnostic service should lead to improved ...
Mark A. Chilvers (7582769), Claire Hogg (4913242), Jane Lucas (2822975), Andrew Bush (733603), Christopher L. O'Callaghan (7581785)   +4 more
core   +4 more sources

Primary ciliary dyskinesia: current state of the art

, 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

Temporal Stability of Ciliary Beating Post Nasal Brushing, Modulated by Storage Temperature

Diagnostics, 2023
Primary ciliary dyskinesia is a heterogeneous, inherited motile ciliopathy in which respiratory cilia beat abnormally, and some ultrastructural ciliary defects and specific genetic mutations have been associated with particular ciliary beating ...
Noemie Bricmont, Romane Bonhiver, Lionel Benchimol, Bruno Louis, Jean-François Papon, Justine Monseur, Anne-Françoise Donneau, Catherine Moermans, Florence Schleich, Doriane Calmès, Anne-Lise Poirrier, Renaud Louis, Marie-Christine Seghaye, Céline Kempeneers   +13 more
doaj   +1 more source