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Primary ciliary dyskinesia

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https://www.readbyqxmd.com/read/28441829/-primary-ciliary-dyskinesia-with-hydin-gene-mutations-in-a-child-and-literature-review
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
EDITORIAL
Rebecca Butterfield
No abstract text is available yet for this article.
March 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28246220/validation-of-a-health-related-quality-of-life-instrument-for-primary-ciliary-dyskinesia-qol-pcd
#13
Laura Behan, Margaret W Leigh, Sharon D Dell, Audrey Dunn Galvin, Alexandra L Quittner, Jane S Lucas
BACKGROUND: Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first disease-specific, health-related QOL instrument for PCD. Psychometric validation of QOL-PCD assesses the performance of this measure in adults, including its reliability, validity and responsiveness to change. METHODS: Seventy-two adults (mean (range) age: 33 years (18-79 years); mean (range) FEV1% predicted: 68 (26-115)) with PCD completed the 49-item QOL-PCD and generic QOL measures: Short-Form 36 Health Survey, Sino-Nasal Outcome Test 20 (SNOT-20) and St George Respiratory Questionnaire (SGRQ)-C...
February 28, 2017: Thorax
https://www.readbyqxmd.com/read/28230514/brush-or-scratch-which-biopsy-is-superior-for-the-ultrastructural-diagnosis-of-primary-ciliary-dyskinesia-a-retrospective-analysis
#14
Christoph Brochhausen, Andreas Mamilos, C James Kirkpatrick
No abstract text is available yet for this article.
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28230497/better-experimental-screening-and-treatment-for-primary-ciliary-dyskinesia-the-fp7-bestcilia-project
#15
K Kyriacou, P K Yiallouros, P Kouis, S I Papatheodorou, H Omran
No abstract text is available yet for this article.
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28199173/accuracy-of-immunofluorescence-in-the-diagnosis-of-primary-ciliary-dyskinesia
#16
Amelia Shoemark, Emily Frost, Mellisa Dixon, Sarah Ollosson, Kate Kilpin, Mitali Patel, Juliet Scully, Andrew V Rogers, Hannah M Mitchison, Andrew Bush, Claire Hogg
Rationale The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the UK consists of assessing ciliary function by high-speed-microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of bi-allelic disease causing mutations is also diagnostic, but many disease causing genes are unknown, and testing is not widely available outside the USA. Fluorescent antibodies to ciliary proteins are used to validate research genetic studies, but diagnostic utility in this disease has not been systematically evaluated...
February 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28180983/scoliosis-convexity-and-organ-anatomy-are-related
#17
Tom P C Schlösser, Tom Semple, Siobhán B Carr, Simon Padley, Michael R Loebinger, Claire Hogg, René M Castelein
PURPOSE: Primary ciliary dyskinesia (PCD) is a respiratory syndrome in which 'random' organ orientation can occur; with approximately 46% of patients developing situs inversus totalis at organogenesis. The aim of this study was to explore the relationship between organ anatomy and curve convexity by studying the prevalence and convexity of idiopathic scoliosis in PCD patients with and without situs inversus. METHODS: Chest radiographs of PCD patients were systematically screened for existence of significant lateral spinal deviation using the Cobb angle...
February 8, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28176794/x-linked-primary-ciliary-dyskinesia-due-to-mutations-in-the-cytoplasmic-axonemal-dynein-assembly-factor-pih1d3
#18
Chiara Olcese, Mitali P Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J Williams, Cara K Vaughan, Jane Hayward, Alice Goldenberg, Richard D Emes, Mustafa M Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean-François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M K Chung, Stylianos E Antonarakis, Michael R Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M Mitchison
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2-DNAAF4-HSP90 complex akin to the HSP90 co-chaperone R2TP complex...
February 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28152038/exome-sequencing-covers-98-of-mutations-identified-on-targeted-next-generation-sequencing-panels
#19
Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targeted NGS panels as a reference...
2017: PloS One
https://www.readbyqxmd.com/read/28122863/alternative-inert-gas-washout-outcomes-in-patients-with-primary-ciliary-dyskinesia
#20
Sylvia Nyilas, Anne Schlegtendal, Florian Singer, Myrofora Goutaki, Claudia E Kuehni, Carmen Casaulta, Philipp Latzin, Cordula Koerner-Rettberg
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 measuring time. In this study, we aimed to assess alternative indices derived from shorter washout protocols.49 patients with primary ciliary dyskinesia (mean age 14.7±6.6 years) and 37 controls (mean age 14.3±1.4 years) performed N2-MBW and double-tracer gas (DTG) single-breath washout tests...
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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