Results 41 to 50 of about 4,316,090 (205)
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. +11 more
core +1 more source
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.
Lucas, J S A +3 more
core +2 more sources
Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report [PDF]
, 2017 KEY POINTS Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force ...
Lucas, Jane S +5 more
core +2 more sources
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 +13 more
doaj +1 more source
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 +10 more
core +1 more source
Primary ciliary dyskinesia: a biopsychosocial approach [PDF]
, 2016 Background: Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder associated with abnormal ciliary structure and function and characterised by progressive sinopulmonary disease. There is no ‘gold standard’ for diagnosing PCD.
Behan, Laura
core +1 more source
Primary ciliary dyskinesia in children [PDF]
Jornal de Pediatria, 2000 OBJECTIVES: To point out primary ciliary dyskinesia as a cause of chronic respiratory disease in children.METHODS: A 10 year literature review on Medline and by direct research about the subject.RESULTS AND CONCLUSIONS: Primary ciliary dyskinesia is a disorder characterized by an abnormal mucociliary clearance.
M F, Toledo, F V, Adde
openaire +2 more sources
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang +7 more
wiley +1 more source
The Emerging Genetics of Primary Ciliary Dyskinesia [PDF]
Proceedings of the American Thoracic Society, 2011 Abstract Primary ciliary dyskinesia (PCD) is an autosomal recessive, rare, genetically heterogeneous condition characterized by oto-sino-pulmonary disease together with situs abnormalities (Kartagener syndrome) owing to abnormal ciliary structure and function.
Maimoona A, Zariwala +2 more
openaire +2 more sources
Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation
Annals of the Child Neurology Society, EarlyView.ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed +5 more
wiley +1 more source