keyword
MENU ▼
Read by QxMD icon Read
search

Ciliary dyskinesia

keyword
https://www.readbyqxmd.com/read/28543983/mutation-of-serine-threonine-protein-kinase-36-stk36-causes-primary-ciliary-dyskinesia-with-a-central-pair-defect
#1
Christine Edelbusch, Sandra Cindrić, Gerard W Dougherty, Niki T Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran
Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and progressive lung failure. Defects of the outer dynein arms are the most common cause of PCD. In about half of the affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor PCD subgroup including defects of the radial spokes (RS) and central pair (CP) is hallmarked by the absence of laterality defects, subtle beating abnormalities and unequivocally apparent ultrastructural defects of the ciliary axoneme, making their diagnosis challenging...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28501546/diagnosis-of-primary-ciliary-dyskinesia-when-and-how
#2
J-J Braun, N Boehm, C Metz-Favre, I Koscinski, M Teletin, C Debry
INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities. METHODS: A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice. RESULTS: Chronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD...
May 10, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28495666/how-to-use-nasal-nitric-oxide-in-a-child-with-suspected-primary-ciliary-dyskinesia
#3
Kim Simpson, Malcolm Brodlie
Measuring nasal nitric oxide (nNO) is increasingly used as part of testing for primary ciliary dyskinesia (PCD). The diagnosis of PCD is often delayed until after bronchiectasis is established and auditory damage has occurred. It is important that all paediatricians are aware of clinical features that are suggestive of PCD that should prompt diagnostic testing. nNO levels are recognised to be low in people with PCD and results generated by static chemiluminescence analysers using velum closure technique in older children have good sensitivity and specificity...
May 11, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28494707/histologic-and-ultrastructural-findings-in-dogs-with-chronic-respiratory-disease-suspected-of-ciliary-dyskinesia
#4
Ileana C Miranda, Jennifer L Granick, Anibal G Armién
Mucociliary clearance is a main defense mechanism of the respiratory tract, which can be inherently impaired in primary ciliary dyskinesia (PCD) or reversibly altered in secondary ciliary dyskinesia (SCD). Limited diagnostic test availability likely leads to misdiagnosis or underdiagnosis of PCD in animals. This study evaluated the light and transmission electron microscopy (TEM) changes in the respiratory mucosa of 15 dogs with chronic respiratory disease suspected of PCD. Necropsy was performed in 1 case and 2 dogs were used as negative controls...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28483130/assessment-of-ciliary-beat-pattern-variability-in-healthy-control-subjects-has-implications-for-use-as-test-for-primary-ciliary-dyskinesia
#5
EDITORIAL
Margaret W Leigh, Michael R Knowles
No abstract text is available yet for this article.
May 2017: Chest
https://www.readbyqxmd.com/read/28481653/accuracy-of-nasal-nitric-oxide-measurement-as-a-diagnostic-test-for-primary-ciliary-dyskinesia-a-systematic-review-and-meta-analysis
#6
Adam J Shapiro, Maureen Josephson, Margaret Rosenfeld, Ozge Yilmaz, Stephanie D Davis, Deepika Polineni, Elena Guadagno, Margaret W Leigh, Valery Lavergne
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is a rare disorder causing chronic oto-sino-pulmonary disease, generally diagnosed through evaluation of respiratory cilia ultrastructure and/or genetic testing. Nasal nitric oxide (nNO) measurement is a PCD screening test, as PCD patients have low nNO levels, but its value as a diagnostic test remains unknown. OBJECTIVE: Perform a systematic review assessing the utility of nNO measurement (index test) as a diagnostic tool compared to the reference standard of electron microscopy (EM) evaluation of ciliary defects and/or detection of biallelic mutations in PCD genes...
May 8, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28479887/long-term-outcome-of-tunisian-children-with-primary-ciliary-dyskinesia-confirmed-by-transmission-electron-microscopy
#7
Hamouda Samia, Boussetta Khadija, Hamzaoui Agnes, Khalsi Fatma, Trabelsi Ines, Jaafoura Hafedh, Tinsa Faten
BACKGROUND: Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable. OBJECTIVE: To study the long-term outcome of PCD in Tunisian children with ciliary ultra-structure defects detected by electron microscope. METHODS: Covering a period of 20 years (1996-2015), this retrospective study included all patients with definite PCD (outer dynein arms (DA) defects and/or situs inversus) and presumed PCD (other ciliary ultra-structure defects)...
December 2016: African Health Sciences
https://www.readbyqxmd.com/read/28478721/early-diagnosis-of-primary-ciliary-dyskinesia-the-role-of-the-pediatrician
#8
Michael Glenn O'Connor, James C Godfrey, Sivakumar Chinnadurai, Lisa Young
No abstract text is available yet for this article.
May 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28441829/-primary-ciliary-dyskinesia-with-hydin-gene-mutations-in-a-child-and-literature-review
#9
L L Chen, Y G Yang, J Z Wu, X R Chen
Objective: To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment. Method: To summarize and analyze the clinical data of a patient who was admitted to the first affiliated hospital of Xiamen University with primary ciliary dyskinesia in April 2014 while referring to related literature. Result: An 11 years old boy, weighting about 22 kg, had a course of more than 10 years with repeated cough, stuffy and runny nose shortly after the birth. Examinations after admission to hospital showed that he presented with visible clubbing, bilateral paranasal sinus area tenderness, pharynx posterior wall with visible yellow pussy stuff drip and bilateral lung had scattered wet rales...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28408202/airway-clearance-techniques-for-primary-ciliary-dyskinesia-is-the-cystic-fibrosis-literature-portable
#10
REVIEW
Lynne Marie Schofield, Alistair Duff, Cathy Brennan
Primary Ciliary Dyskinesia (PCD) is a rare inherited disease with impaired mucociliary clearance. Airway clearance techniques (ACTs) are commonly recommended for patients with PCD to facilitate mucus clearance, despite a lack of evidence in this group. Current physiotherapy practice in PCD is based on evidence extrapolated from the field of Cystic Fibrosis (CF). This paper focuses on the available evidence and outlines challenges in extrapolating evidence between the conditions for best clinical practice.
March 16, 2017: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28403885/lung-structure-and-function-similarities-between-primary-ciliary-dyskinesia-and-mild-cystic-fibrosis-a-pilot-study
#11
Marco Maglione, Silvia Montella, Carmine Mollica, Vincenzo Carnovale, Paola Iacotucci, Fabiola De Gregorio, Antonella Tosco, Mariarosaria Cervasio, Valeria Raia, Francesca Santamaria
BACKGROUND: Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are increasingly compared. There are no chest magnetic resonance imaging (MRI) comparative studies of PCD and CF. We assessed clinical, functional, microbiological and MRI findings in PCD and mild CF patients in order to evaluate different expression of lung disease. METHODS: Twenty PCD (15.1 years) and 20 CF subjects with mild respiratory impairment (16 years, 70% with pancreatic insufficiency) underwent MRI, spirometry, and sputum cultures when clinically stable...
April 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28395407/-the-clinical-characteristics-of-17-cases-of-primary-ciliary-dyskinesia
#12
X L Tian, S B Wang, S Y Zheng, X Li, K F Xu
Objective: To review the clinical data of cases of primary ciliary dyskinesia (PCD), and to explore the clinical characteristics for the understanding of PCD. Methods: We retrospectively summarized 17 patients with PCD diagnosed in Peking Union Medical College Hospital from Jan 2009 to Dec 2014. There were 7 male and 10 female patients, with the age from 6 to 57 years at the time of diagnosis. The mean onset age of the disease was 11.7±2.1 years, and the mean age at diagnosis was 29.5±3.5 years. We analyzed their clinical symtoms, radiologic images, pulmonary function test and the electron microscopic findings for the clinical characteristics of PCD...
April 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28361274/the-patient-s-experience-of-primary-ciliary-dyskinesia-a-systematic-review
#13
REVIEW
Laura Behan, Bruna Rubbo, Jane S Lucas, Audrey Dunn Galvin
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. The aim of this study is to critically review, analyse, and synthesise the literature in order to understand the experiences of patients with primary ciliary dyskinesia (PCD) and the impact on health-related quality of life. METHOD: MEDLINE, EBSCO, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO and EMBASE were searched according to the inclusion criteria...
March 30, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28358397/cilia-distribution-and-polarity-in-the-epithelial-lining-of-the-mouse-middle-ear-cavity
#14
Wenwei Luo, Hong Yi, Jeannette Taylor, Jian-Dong Li, Fanglu Chi, N Wendell Todd, Xi Lin, Dongdong Ren, Ping Chen
The middle ear conducts sound to the cochlea for hearing. Otitis media (OM) is the most common illness in childhood. Moreover, chronic OM with effusion (COME) is the leading cause of conductive hearing loss. Clinically, COME is highly associated with Primary Ciliary Dyskinesia, implicating significant contributions of cilia dysfunction to COME. The understanding of middle ear cilia properties that are critical to OM susceptibility, however, is limited. Here, we confirmed the presence of a ciliated region near the Eustachian tube orifice at the ventral region of the middle ear cavity, consisting mostly of a lumen layer of multi-ciliated and a layer of Keratin-5-positive basal cells...
March 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28344781/patient-specific-three-dimensional-explant-spheroids-derived-from-human-nasal-airway-epithelium-a-simple-methodological-approach-for-ex-vivo-studies-of-primary-ciliary-dyskinesia
#15
June Kehlet Marthin, Elizabeth Munkebjerg Stevens, Lars Allan Larsen, Søren Tvorup Christensen, Kim Gjerum Nielsen
BACKGROUND: Three-dimensional explant spheroid formation is an ex vivo technique previously used in studies of airway epithelial ion and water transport. Explanted cells and sheets of nasal epithelium form fully differentiated spheroids enclosing a partly fluid-filled lumen with the ciliated apical surface facing the outside and accessible for analysis of ciliary function. METHODS: We performed a two-group comparison study of ciliary beat pattern and ciliary beat frequency in spheroids derived from nasal airway epithelium in patients with primary ciliary dyskinesia (PCD) and in healthy controls...
2017: Cilia
https://www.readbyqxmd.com/read/28290230/cilia-and-ear
#16
Gioia Piatti, Maria Margherita De Santi, Sara Torretta, Lorenzo Pignataro, Daniela Soi, Umberto Ambrosetti
OBJECTIVE: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood. METHODS: Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and throat manifestations (ENT) and any surgical treatments. The ENT objectivity was annotated, and then patients were subjected to audiometric test, tympanometry, registration of otoacoustic emission, and vestibular evaluation...
April 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28289722/assessment-of-ciliary-phenotype-in-primary-ciliary-dyskinesia-by-micro-optical-coherence-tomography
#17
George M Solomon, Richard Francis, Kengyeh K Chu, Susan E Birket, George Gabriel, John E Trombley, Kristi L Lemke, Nikolai Klena, Brett Turner, Guillermo J Tearney, Cecilia W Lo, Steven M Rowe
Ciliary motion defects cause defective mucociliary transport (MCT) in primary ciliary dyskinesia (PCD). Current diagnostic tests do not assess how MCT is affected by perturbation of ciliary motion. In this study, we sought to use micro-optical coherence tomography (μOCT) to delineate the mechanistic basis of cilia motion defects of PCD genes by functional categorization of cilia motion. Tracheae from three PCD mouse models were analyzed using μOCT to characterize ciliary motion and measure MCT. We developed multiple measures of ciliary activity, integrated these measures, and quantified dyskinesia by the angular range of the cilia effective stroke (ARC)...
March 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28284321/matrix-metalloproteinases-and-airway-remodeling-and-function-in-primary-ciliary-dyskinesia
#18
Massimo Pifferi, Andrew Bush, Davide Caramella, Maria Rita Metelli, Maria Di Cicco, Martina Piras, Giulia Gherarducci, Carlo Capristo, Fabrizio Maggi, Diego Peroni, Attilio L Boner
BACKGROUND: The balance between matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) is important in the regulation of airway damage. OBJECTIVE: To evaluate whether they are important in the pathophysiology of primary and secondary ciliary dyskinesia (PCD, SCD). METHODS: We measured sputum bacteriology, lung CT changes, MMPs, TIMPs and lung function in 86 patients (51 PCD, 35 SCD) in a cross-sectional study; the 10 controls studied did not have HRCT or sputum cultures...
March 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28258742/current-and-future-approaches-to-large-airways-imaging-in-adults-and-children
#19
REVIEW
T Semple, A Calder, C M Owens, S Padley
"Large airways disease" is a catch-all phrase encompassing a wide variety of pathology affecting the trachea, main, lobar, segmental, and proximal sub-segmental bronchi. Relevant pathologies can be divided into focal or diffuse processes and many conditions have classic appearances on computed tomography (CT). We provide a review of the imaging specifics of a wide range of large airway pathologies in adult, childhood, and fetal life with examples of common and rare pathologies ranging from well-known entities such as cystic fibrosis and allergic bronchopulmonary aspergillosis to rarities such as Williams-Campbell, primary ciliary dyskinesia, and congenital high-airway obstruction syndrome (CHAOS)...
May 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28250080/primary-ciliary-dyskinesia
#20
EDITORIAL
Rebecca Butterfield
No abstract text is available yet for this article.
March 2017: Pediatrics in Review
keyword
keyword
100821
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"