Results 91 to 100 of about 9,533 (204)

Kartagener Syndrome: A Rare Genetic Disorder

Journal of Nepal Medical Association, 2009
Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure ...
Kunjan Shakya
doaj   +1 more source

Multiple system atrophy in a patient with primary ciliary dyskinesia [PDF]

, 2013
We present the case of a patient with primary ciliary dyskinesia who later developed clinically probable multiple system atrophy. Multiple system atrophy is a sporadic neurodegenerative disorder clinically characterised by various combinations of ...
Siti Ayuni Binti Zakyudin
core  

Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. [PDF]

, 2000
Primary ciliary dyskinesia is a congenital condition that may cause chronic rhinitis and bronchopneumonia. Primary ciliary dyskinesia may be diagnosed by induction of ciliogenesis by use of in vitro cell culture.
Jorissen, M, Henroteaux, Marc, Jorissen, M., Beths, T., Votion, Dominique, Beths, T, Clercx, Cécile, Mc Entee, Kathleen, Votion, D, Snaps, F., Snaps, Frédéric, Peeters, Dominique, McEntee, Kathleen, Henroteaux, M   +13 more
core   +1 more source

Chapter 12. Primary ciliary dyskinesia [PDF]

, 2011
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with an incidence estimated between 1:2,000 and 1:40,000. Ciliated epithelia line the airways, nasal and sinus cavities, Eustachian tube and fallopian tubes.
Walker, W.T., J.S.A. Lucas, R. Lazor, Lucas, J.S.A., Lazor, R., W.T. Walker, C.E. Kuehni, Kuehni, C.E.   +7 more
core   +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

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

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

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

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

Changing epidemiology of non-cystic fibrosis bronchiectasis

The Turkish Journal of Pediatrics, 2016
Non-cystic fibrosis bronchiectasis again becomes a major health problem due to inappropriate antibiotic use and increasing frequency of protracted bacterial bronchitis. The aim was to determine the changes in etiology of bronchiectasis.
Semiha Bahçeci, Sait Karaman, Hikmet Tekin Nacaroğlu, Selçuk Yazıcı, Saniye Girit, Şule Ünsal-Karkıner, Demet Can   +6 more
doaj   +1 more source