Results 91 to 100 of about 4,530,510 (207)

Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study

, 2010
Early diagnosis and treatment is considered important to prevent lung damage in primary ciliary dyskinesia (PCD)
Petersen, Nadia, Skovgaard, Lene T, Nielsen, Kim G, Marthin, June K, Nadia Petersen, June K. Marthin, Kim G. Nielsen, Lene T. Skovgaard   +7 more
core   +1 more source

Primary Ciliary Dyskinesia: A Clinical Review

Cells
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract infections, subfertility, and laterality defects.
Katherine A. Despotes, Maimoona A. Zariwala, Stephanie D. Davis, Thomas W. Ferkol   +3 more
doaj   +1 more source

LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

PLoS ONE, 2013
Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical ...
Amjad Horani, Thomas W Ferkol, David Shoseyov, Mollie G Wasserman, Yifat S Oren, Batsheva Kerem, Israel Amirav, Malena Cohen-Cymberknoh, Susan K Dutcher, Steven L Brody, Orly Elpeleg, Eitan Kerem   +11 more
doaj   +1 more source

Definition of sinonasal and otological exacerbation in patients with primary ciliary dyskinesia: an expert consensus

ERJ Open Research
Background Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in primary ciliary dyskinesia are defined, there is no definition for ear-nose-throat ...
Myrofora Goutaki, Yin Ting Lam, Andreas Anagiotos, Miguel Armengot, Andrea Burgess, Raewyn Campbell, Mathilde Carlier, Nathalie Caversaccio, Neil K. Chadha, Berat Demir, Sinan Ahmed D. Dheyauldeen, Onder Gunaydin, Amanda Harris, Isolde Hayn, Deniz Inal-Ince, Eric Levi, Trini Lopez Fernandez, Jane S. Lucas, Bernard Maitre, Anne-Lise M.L. Poirrier, Lynne Schofield, Kazuhiko Takeuchi, Christine van Gogh, Nikolaus E. Wolter, Jean-François Papon   +24 more
doaj   +1 more source

EARLY DIAGNOSIS AND TREATMENT IN PATIENT WITH A PRIMARY CILIARY DYSKINESIA (KARTAGENER SYNDROME): CASE REPORT

Архивъ внутренней медицины, 2018
Primary ciliar dyskinesia is а rare orphan disease known for its multiple and variable symptoms caused by the marked genetic heterogenity beyond. As per the abundant symptoms in pediatric patients, a frequent inflammatory diseases of both upper and lower
I. V. Rybakova, I. V. Koroleva, A. V. Khizhniak, O. V. Sidorovich, S. Iu. Elizarova   +4 more
doaj   +1 more source

Expression of nitric oxide synthases in primary ciliary dyskinesia.

, 2011
International audienceNitric oxide is believed to play a central role in nonspecific defense of upper airways. Patients with primary ciliary dyskinesia have very low concentration of nasal nitric oxide, which may contribute to the chronic upper airway ...
Jean-François Arnal, Arnal, Jean-François, Séverine Valmary, Pierre Brousset, Valmary, Séverine, Bruno Degano, Brousset, Pierre, Degano, Bruno, Serrano, Elie, Elie Serrano   +9 more
core   +1 more source

Beyond bacteria and breaking the norm: Pulmonary mucormycosis due to in a child with primary ciliary dyskinesia

Journal of International Medical Research
Primary ciliary dyskinesia is a rare autosomal recessive disorder that impairs mucociliary clearance and predisposes children to chronic respiratory infections. Invasive fungal infections caused by Lichtheimia (Absidia) corymbifera are typically confined
Abdulrahman O Alghamdi, Fawzyh J AlKhadidi, Abdulraouf H Alawur, Safiya Alkhaldi, Lura Habib, Roaa Alharbe, Abdulelah S Algethami, Nejood M Aljaed, Salma AS Abosabie, Sara A Abosabie, Naglaa M Kamal   +10 more
doaj   +1 more source

Alternative inert gas washout outcomes in patients with primary ciliary dyskinesia. [PDF]

, 2017
The lung clearance index (LCI) derived from a nitrogen multiple breath washout test (N2-MBW) is a promising tool to assess small airways disease in primary ciliary dyskinesia, but it is difficult to apply in routine clinical settings because of its long ...
Casaulta, Carmen, Latzin, Philipp, Kuehni, Claudia E, Schlegtendal, Anne, Singer, Florian, Nyilas, Sylvia, Goutaki, Myrofora, Casaulta Aebischer, Carmen, Koerner-Rettberg, Cordula, Latzin P, Koerner-Rettberg C, Nyilas S, Casaulta C, Goutaki M, Schlegtendal A, Kuehni CE, Singer F   +16 more
core   +1 more source

Bronchodilator responsiveness in children with primary ciliary dyskinesia

ERJ Open Research
Background Reversible airway obstruction is common in children with primary ciliary dyskinesia. However, the diagnostic value of adding bronchodilator (BD) response testing to routine spirometry is unclear.
Elias Seidl, Dvir Gatt, Wallace B. Wee, David Wilson, Felix Ratjen, Hartmut Grasemann   +5 more
doaj   +1 more source

Priorities and barriers for research related to primary ciliary dyskinesia

ERJ Open Research
Background Despite advances in primary ciliary dyskinesia (PCD) research, many questions remain; diagnosis is complex and no disease-specific therapies exist.
Myrofora Goutaki, Yin Ting Lam, Bruna Rubbo, James D. Chalmers, Panayiotis Kouis, Gemma Marsh, Jean-François Papon, Johanna Raidt, Phil Robinson, Laura Behan, Jane S. Lucas   +10 more
doaj   +1 more source