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Ciliary dyskinesia

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https://www.readbyqxmd.com/read/28052961/the-time-is-right-for-an-international-primary-ciliary-dyskinesia-disease-registry
#1
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
#2
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
#3
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
#4
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-whilst-retaining-their-mucociliary-differentiation-capacity
#5
Mustafa Mohamed Munye, Amelia Shoemark, Robert A Hirst, Juliette M Delhove, Tyson V Sharp, Tristan R McKay, Chistopher 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 hypothesised that use of human BMI-1 alone would increase the proliferative potential of bronchial epithelial cells while retaining their mucociliary differentiation potential...
December 15, 2016: 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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27889361/adult-bronchiectasis-patients-a-first-look-at-the-united-states-bronchiectasis-research-registry
#9
Timothy R Aksamit, Anne E O'Donnell, Alan Barker, Kenneth N Olivier, Kevin L Winthrop, M Leigh Anne Daniels, Margaret Johnson, Edward Eden, David Griffith, Michael Knowles, Mark Metersky, Matthias Salathe, Byron Thomashow, Gregory Tino, Gerard Turino, Betsy Carretta, Charles L Daley
OBJECTIVE: We sought to describe the characteristics of adult bronchiectasis patients enrolled in the United States Bronchiectasis Research Registry (BRR). METHODS: The BRR is a database of non-cystic fibrosis bronchiectasis (NCFB) patients enrolled at 13 sites within the United States. Baseline demographic, spirometric, imaging, microbiologic, and therapeutic data were entered into a central web-based database. Patients were subsequently analyzed by the presence NTM...
November 23, 2016: Chest
https://www.readbyqxmd.com/read/27879058/sinus-surgery-can-improve-quality-of-life-lung-infections-and-lung-function-in-patients-with-primary-ciliary-dyskinesia
#10
Mikkel Christian Alanin, Kasper Aanaes, Niels Høiby, Tania Pressler, Marianne Skov, Kim Gjerum Nielsen, Helle Krogh Johansen, Christian von Buchwald
BACKGROUND: Chronic rhinosinusitis (CRS) and bacterial sinusitis are ubiquitous in patients with primary ciliary dyskinesia (PCD). From the sinuses, Pseudomonas aeruginosa can infect the lungs. METHODS: We studied the effect of endoscopic sinus surgery (ESS) on symptoms of CRS and lower airway infections in PCD patients in a prospective single-arm intervention study of ESS with adjuvant therapy using nasal irrigation with saline, topical nasal steroids, and 2 weeks of systemic antibiotics...
November 23, 2016: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/27878633/cardiopulmonary-exercise-testing-in-fontan-patients-with-and-without-isomerism-heterotaxy-as-compared-to-patients-with-primary-ciliary-dyskinesia-and-subjects-with-structurally-normal-hearts
#11
Rohit S Loomba, Michael Danduran, Kim G Nielsen, Astrid M Ring, Joshua Kovach, Robert H Anderson
Isomerism, also known as heterotaxy, is a clinical entity that impacts multiple organ systems both anatomically and functionally. The airways and lungs are involved in a great number of these patients, leading to increased sinopulmonary symptoms, increased need for oxygenation, and increased postoperative ventilatory support. Additionally, these patients often have congenital heart disease requiring Fontan palliation. What has not been previously described, and is the focus of this study, is the results of cardiopulmonary exercise testing in those who have undergone Fontan palliation with and without isomerism...
November 23, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27836958/european-respiratory-society-guidelines-for-the-diagnosis-of-primary-ciliary-dyskinesia
#12
Jane S Lucas, Angelo Barbato, Samuel A Collins, Myrofora Goutaki, Laura Behan, Daan Caudri, Sharon Dell, Ernst Eber, Estelle Escudier, Robert A Hirst, Claire Hogg, Mark Jorissen, Philipp Latzin, Marie Legendre, Margaret W Leigh, Fabio Midulla, Kim G Nielsen, Heymut Omran, Jean-Francois Papon, Petr Pohunek, Beatrice Redfern, David Rigau, Bernhard Rindlisbacher, Francesca Santamaria, Amelia Shoemark, Deborah Snijders, Thomy Tonia, Andrea Titieni, Woolf T Walker, Claudius Werner, Andrew Bush, Claudia E Kuehni
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments...
November 11, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27781089/collecting-clinical-data-in-primary-ciliary-dyskinesia-challenges-and-opportunities
#13
Israel Amirav, Mary Roduta Roberts, Huda Mussaffi, Avigdor Mandelberg, Yehudah Roth, Revital Abitbul, Anthony Luder, Hannah Blau, Soliman Alkrinawi, Micha Aviram, Marta Ben-Ami, Moshe Rotschild, Lea Bentur, David Shoseyov, Malena Cohen-Cymberknoh, Eitan Kerem, Avraham Avital, Chaim Springer, Avigdor Hevroni, Husein Dabbah, Arnon Elizur, Elie Picard, Shmuel Goldberg, Joseph Rivlin, Galit Livnat, Moran Lavie, Nael Alias, Ruth Soferman, Heike Olbrich, Johanna Raidt, Julia Wallmeier, Claudius Werner, Niki T Loges, Heymut Omran
Rationale: Primary ciliary dyskinesia (PCD) is under diagnosed and underestimated. Most clinical research has used some form of questionnaires to capture data but none has been critically evaluated particularly with respect to its end-user feasibility and utility. Objective: To critically appraise a clinical data collection questionnaire for PCD used in a large national PCD consortium in order to apply conclusions in future PCD research. Methods: We describe the development, validation and revision process of a clinical questionnaire for PCD and its evaluation during a national clinical PCD study with respect to data collection and analysis, initial completion rates and user feedback...
2016: F1000Research
https://www.readbyqxmd.com/read/27779714/whole-exome-sequencing-identification-of-novel-dnah5-mutations-in-a-young-patient-with-primary-ciliary-dyskinesia
#14
Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, Takao Fujisawa
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity of PCD. In the current study, the patient with PCD was diagnosed at nine years old following several efforts to control intractable airway symptoms. The patient experienced a chronic productive cough beginning in early childhood and had multiple episodes of pneumonia and otitis media with effusion and sinusitis...
December 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27693596/variation-of-ciliary-beat-pattern-in-3-different-beating-planes-in-healthy-subjects
#15
Celine Kempeneers, Claire Seaton, Mark A Chilvers
BACKGROUND: Digital high speed videomicroscopy(DHSV) allows analysis of ciliary beat frequency(CBF) and pattern(CBP) of respiratory cilia in 3 planes. Normal reference data use a sideways edge to evaluate ciliary dyskinesia, and calculate CBF using the time for a cilium to complete 10 beat cycles. Variability in CBF within respiratory epithelium has been described, but data concerning variation of CBP is limited in healthy epithelium. This study aims to document variability of CBP within normal samples, to compare ciliary function in 3 profiles, and CBF calculated over 5 or 10 beat cycles...
September 29, 2016: Chest
https://www.readbyqxmd.com/read/27692146/primary-ciliary-dyskinesia-in-israel-prevalence-clinical-features-current-diagnosis-and-management-practices
#16
Revital Abitbul, Israel Amirav, Hannah Blau, Soliman Alkrinawi, Micha Aviram, David Shoseyov, Lea Bentur, Avraham Avital, Chaim Springer, Moran Lavie, Dario Prais, Husein Dabbah, Nael Elias, Arnon Elizur, Shmuel Goldberg, Avigdor Hevroni, Eitan Kerem, Anthony Luder, Yehudah Roth, Malena Cohen-Cymberknoh, Marta Ben Ami, Avigdor Mandelberg, Galit Livnat, Elie Picard, Joseph Rivlin, Moshe Rotschild, Ruth Soferman, Niki T Loges, Heike Olbrich, Claudius Werner, Alexander Wolter, Martina Herting, Julia Wallmeier, Johanna Raidt, Heymut Omran, Huda Mussaffi
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is rare and its features in Israel have not been described. AIMS: to assess prevalence utilizing state-of-the-art diagnostic techniques, and describe clinical features, diagnostic and management practices in Israel. METHODS: A national multicenter study from 2012 to 2013 recruited patients diagnosed or suspected of having PCD. Diagnosis was verified using: nasal Nitric Oxide (nNO); High-speed Video Microscope Analysis (HVMA); Transmission Electron Microscopy (TEM) of cilia; Immuno-fluorescence staining (IF) for ciliary proteins, and genetic analysis...
October 2016: Respiratory Medicine
https://www.readbyqxmd.com/read/27687975/novel-roles-for-the-radial-spoke-head-protein-9-in-neural-and-neurosensory-cilia
#17
Irina Sedykh, Jessica J TeSlaa, Rose L Tatarsky, Abigail N Keller, Kimberly A Toops, Aparna Lakkaraju, Molly K Nyholm, Marc A Wolman, Yevgenya Grinblat
Cilia are cell surface organelles with key roles in a range of cellular processes, including generation of fluid flow by motile cilia. The axonemes of motile cilia and immotile kinocilia contain 9 peripheral microtubule doublets, a central microtubule pair, and 9 connecting radial spokes. Aberrant radial spoke components RSPH1, 3, 4a and 9 have been linked with primary ciliary dyskinesia (PCD), a disorder characterized by ciliary dysmotility; yet, radial spoke functions remain unclear. Here we show that zebrafish Rsph9 is expressed in cells bearing motile cilia and kinocilia, and localizes to both 9 + 2 and 9 + 0 ciliary axonemes...
September 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27680603/clinical-phenotype-and-current-diagnostic-criteria-for-primary-ciliary-dyskinesia
#18
Eleonora Dehlink, Claire Hogg, Siobhan B Carr, Andrew Bush
Primary ciliary dyskinesia (PCD) is a rare, mostly autosomal-recessive disorder of motile cilia, characterized by chronic lung disease, rhinosinusitis, hearing impairment, and subfertility. PCD is still often missed or diagnosed late since symptoms overlap with common respiratory complaints, but should be considered if one or more of the cardinal clues are present. Areas covered: We provide an overview on clinical presentations of PCD and clues for when to consider PCD, these include unexplained neonatal respiratory distress, persistent rhinitis from the first days of life, situs anomalies, or otorrhoea following tympanostomy tube insertion...
October 19, 2016: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/27637300/diagnosis-of-primary-ciliary-dyskinesia-by-a-targeted-next-generation-sequencing-panel-molecular-and-clinical-findings-in-italian-patients
#19
Francesca Boaretto, Deborah Snijders, Cecilia Salvoro, Ambra Spalletta, Maria Luisa Mostacciuolo, Mirella Collura, Salvatore Cazzato, Donatella Girosi, Michela Silvestri, Giovanni Arturo Rossi, Angelo Barbato, Giovanni Vazza
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that alters mucociliary clearance, with consequent chronic disease of upper and lower airways. Diagnosis of PCD is challenging, and genetic testing is hampered by the high heterogeneity of the disease, because autosomal recessive causative mutations were found in 34 different genes. In this study, we clinically and molecularly characterized a cohort of 51 Italian patients with clinical signs of PCD. A custom next-generation sequencing panel that enables the affordable and simultaneous screening of 24 PCD genes was developed for genetic analysis...
September 13, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27619050/a-longitudinal-evaluation-of-hearing-and-ventilation-tube-insertion-in-patients-with-primary-ciliary-dyskinesia
#20
Tobias Nicolai Andersen, Mikkel Christian Alanin, Christian von Buchwald, Lars Holme Nielsen
INTRODUCTION: Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disease, which primarily manifests with oto-sino-pulmonary symptoms. Otitis media with effusion (OME) is common from early childhood. The existing literature on OME management in PCD is conflicting. The goals of the present study were firstly to evaluate the long-term hearing in PCD patients and secondly to determine the influence of ventilation tube (VT) insertion on hearing and postoperative otorrhoea. METHODS: A longitudinal retrospective study extracting the hearing level (pure tone average (0...
October 2016: International Journal of Pediatric Otorhinolaryngology
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