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Primary ciliary dyskinesia

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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
#1
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
#2
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
#3
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
#4
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
#5
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)...
March 1, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28250080/primary-ciliary-dyskinesia
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28121955/childhood-recurrent-pneumonia-caused-by-endobronchial-sutures-a-case-report
#15
Yiheng Zan, Hanmin Liu, Lin Zhong, Li Qiu, Qingfen Tao, Lina Chen
BACKGROUND: Recurrent pneumonia is defined as more than two episodes of pneumonia in one year or three or more episodes anytime in life. Common clinical scenarios leading to recurrent pneumonia include anatomical abnormalities of respiratory tract, immunodeficiency, congenital heart diseases, primary ciliary dyskinesia, etc. CASE REPORT: A school-aged girl suffered from 1-2 episodes of pneumonia each year after trachea connection and lung repair operation resulted from an accident of car crash...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#16
REVIEW
Zhe Zhou-Suckow, Julia Duerr, Matthias Hagner, Raman Agrawal, Marcus A Mall
Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung diseases such as asthma and chronic obstructive pulmonary disease (COPD), which have emerged as a leading cause of morbidity and mortality worldwide. However, the role of excess airway mucus in the in vivo pathogenesis of these diseases remains poorly understood. The generation of mice with airway-specific overexpression of epithelial Na(+) channels (ENaC), exhibiting airway surface dehydration (mucus hyperconcentration), impaired mucociliary clearance (MCC) and mucus plugging, led to a model of muco-obstructive lung disease that shares key features of CF and COPD...
January 20, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28096734/chest-ct-features-of-cystic-fibrosis-in-korea-comparison-with-non-cystic-fibrosis-diseases
#17
So Yeon Yang, Kyung Soo Lee, Min Jae Cha, Tae Jung Kim, Tae Sung Kim, Hyun Jung Yoon
OBJECTIVE: Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. MATERIALS AND METHODS: From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study...
January 2017: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/28096286/diagnosis-of-primary-ciliary-dyskinesia-potential-options-for-resource-limited-countries
#18
REVIEW
Nisreen Rumman, Claire Jackson, Samuel Collins, Patricia Goggin, Janice Coles, Jane S Lucas
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28052961/the-time-is-right-for-an-international-primary-ciliary-dyskinesia-disease-registry
#19
EDITORIAL
Kenan Haver
No abstract text is available yet for this article.
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28052956/the-international-primary-ciliary-dyskinesia-cohort-ipcd-cohort-methods-and-first-results
#20
Myrofora Goutaki, Elisabeth Maurer, Florian S Halbeisen, Israel Amirav, Angelo Barbato, Laura Behan, Mieke Boon, Carmen Casaulta, Annick Clement, Suzanne Crowley, Eric Haarman, Claire Hogg, Bulent Karadag, Cordula Koerner-Rettberg, Margaret W Leigh, Michael R Loebinger, Henryk Mazurek, Lucy Morgan, Kim G Nielsen, Heymut Omran, Nicolaus Schwerk, Sergio Scigliano, Claudius Werner, Panayiotis Yiallouros, Zorica Zivkovic, Jane S Lucas, Claudia E Kuehni
Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort).We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format...
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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