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Ciliary dyskinesia

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https://www.readbyqxmd.com/read/28230514/brush-or-scratch-which-biopsy-is-superior-for-the-ultrastructural-diagnosis-of-primary-ciliary-dyskinesia-a-retrospective-analysis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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/28118936/etiology-of-bronchiectasis-in-a-cohort-of-2047-patients-an-analysis-of-the-spanish-historical-bronchiectasis-registry
#9
Casilda Olveira, Alicia Padilla, Miguel-Ángel Martínez-García, David de la Rosa, Rosa-María Girón, Montserrat Vendrell, Luis Máiz, Luis Borderías, Eva Polverino, Eva Martínez-Moragón, Olga Rajas, Francisco Casas, Rosa Cordovilla, Javier de Gracia
INTRODUCTION: Bronchiectasis is caused by many diseases. Establishing its etiology is important for clinical and prognostic reasons. The aim of this study was to evaluate the etiology of bronchiectasis in a large patient sample and its possible relationship with demographic, clinical or severity factors, and to analyze differences between idiopathic disease, post-infectious disease, and disease caused by other factors. METHODS: Multicenter, cross-sectional study of the SEPAR Spanish Historical Registry (RHEBQ-SEPAR)...
January 21, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28041644/mutations-in-pih1d3-cause-x-linked-primary-ciliary-dyskinesia-with-outer-and-inner-dynein-arm-defects
#15
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#16
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27979861/bmi-1-extends-proliferative-potential-of-human-bronchial-epithelial-cells-while-retaining-their-mucociliary-differentiation-capacity
#17
Mustafa M Munye, Amelia Shoemark, Robert A Hirst, Juliette M Delhove, Tyson V Sharp, Tristan R McKay, Christopher O'Callaghan, Deborah L Baines, Steven J Howe, Stephen L Hart
Air-liquid interface (ALI) culture of primary airway epithelial cells enables mucociliary differentiation providing an in vitro model of the human airway, but their proliferative potential is limited. To extend proliferation, these cells were previously transduced with viral oncogenes or mouse Bmi-1 + hTERT, but the resultant cell lines did not undergo mucociliary differentiation. We hypothesized that use of human BMI-1 alone would increase the proliferative potential of bronchial epithelial cells while retaining their mucociliary differentiation potential...
February 1, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27935903/prevalence-of-primary-ciliary-dyskinesia-in-consecutive-referrals-of-suspect-cases-and-the-transmission-electron-microscopy-detection-rate-a-systematic-review-and-meta-analysis
#18
Panayiotis Kouis, Panayiotis K Yiallouros, Nicos Middleton, John S Evans, Kyriacos Kyriacou, Stefania I Papatheodorou
BackgroundDiagnostic testing for Primary Ciliary Dyskinesia (PCD) usually includes Transmission Electron Microscopy (TEM), nasal Nitric Oxide, High Speed Video Microscopy and genetics. Diagnostic performance of each test should be assessed towards the development of PCD diagnostic algorithms. We systematically reviewed the literature and quantified PCD prevalence among referrals and TEM detection rate in confirmed PCD patients.MethodsMajor electronic databases were searched until December 2015 using appropriate terms...
December 9, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27922232/changing-epidemiology-of-non-cystic-fibrosis-bronchiectasis
#19
Semiha Bahçeci, Sait Karaman, Hikmet Tekin Nacaroğlu, Selçuk Yazıcı, Saniye Girit, Şule Ünsal-Karkıner, Demet Can
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. Patients who admitted to Behçet Uz Children Hospital between 2005 and 2015 (n=110) were retrospectively examined. The etiology of bronchiectasis was detected as; primary ciliary dyskinesia 26.4%, protracted bacterial bronchitis 22.8%, primary immune deficiency 11.8%, bronchiolitis obliterans 8...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27896060/diffuse-bronchiectasis-as-the-primary-manifestation-of-endobronchial-sarcoidosis
#20
Paul D Hiles, Kenneth R Kemp, Jean M Coviello
Sarcoidosis is an idiopathic disease that most commonly involves the lungs and is characterized by granulomatous inflammation. Bronchiectasis is one pulmonary manifestation of sarcoidosis, although it is almost always observed as traction bronchiectasis in the setting of fibrotic lung disease. A 50-year-old woman was evaluated for chronic cough and bronchiectasis with a small amount of peripheral upper lobe honeycombing and no significant pulmonary fibrosis or lymphadenopathy. After an extensive laboratory and imaging evaluation did not identify a cause of her bronchiectasis, bronchoscopy was performed to assess for primary ciliary dyskinesia and revealed a diffuse cobblestone appearance of the airway mucosa...
2017: Respiratory Medicine Case Reports
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