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Primary ciliary dyskinesia

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https://www.readbyqxmd.com/read/27896060/diffuse-bronchiectasis-as-the-primary-manifestation-of-endobronchial-sarcoidosis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
October 21, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27692146/primary-ciliary-dyskinesia-in-israel-prevalence-clinical-features-current-diagnosis-and-management-practices
#8
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
#9
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
#10
Eleonora Dehlink, Claire Hogg, Siobhan B Carr, Andrew Bush
INTRODUCTION: 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...
September 28, 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
#11
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
#12
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
https://www.readbyqxmd.com/read/27618201/aminoglycoside-stimulated-readthrough-of-premature-termination-codons-in-selected-genes-involved-in-primary-ciliary-dyskinesia
#13
Zuzanna Bukowy-Bieryllo, Maciej Dabrowski, Michał Witt, Ewa Zietkiewicz
Translational readthrough of premature termination codons (PTCs) induced by pharmacological compounds has proven to be an effective way of restoring functional protein expression and reducing symptoms in several genetic disorders. We tested the potential of different concentrations of several aminoglycosides (AAGs) for promoting PTC-readthrough in 5 genes involved in the pathogenesis of primary ciliary dyskinesia, an inherited disorder caused by the dysfunction of motile cilia and flagella. The efficiency of readthrough stimulation of PTCs cloned in dual reporter vectors was examined in 2 experimental settings: in vitro (transcription/translation system) and ex vivo (transiently transfected epithelial cell line)...
August 12, 2016: RNA Biology
https://www.readbyqxmd.com/read/27564672/delivery-of-alpha-1-antitrypsin-to-airways
#14
Matthias Griese, Gerhard Scheuch
Treatment with exogenous alpha-1 antitrypsin (AAT), a potent serine protease inhibitor, was developed originally for chronic obstructive pulmonary disease associated with AAT deficiency; however, other lung conditions involving neutrophilic inflammation and proteolytic tissue injury related to neutrophil elastase and other serine proteases may also be considered for AAT therapy. These conditions include bronchiectasis caused by primary ciliary dyskinesia, cystic fibrosis, and other diseases associated with an increased free elastase activity in the airways...
August 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27514592/primary-ciliary-dyskinesia
#15
REVIEW
Michael R Knowles, Maimoona Zariwala, Margaret Leigh
Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses and determination of a robust clinical phenotype, which includes neonatal respiratory distress, daily nasal congestion, and wet cough starting early in life, along with organ laterality defects...
September 2016: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/27492837/diagnosing-primary-ciliary-dyskinesia-an-international-patient-perspective
#16
Laura Behan, Audrey Dunn Galvin, Bruna Rubbo, Sarah Masefield, Fiona Copeland, Michele Manion, Bernhard Rindlisbacher, Beatrice Redfern, Jane S Lucas
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-pulmonary disease, with symptoms starting soon after birth. A European Respiratory Society (ERS) Task Force aims to address disparities in diagnostics across Europe by providing evidence-based clinical practice guidelines. We aimed to identify challenges faced by patients when referred for PCD diagnostic testing.A patient survey was developed by patient representatives and healthcare specialists to capture experience...
October 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27492829/clinical-manifestations-in-primary-ciliary-dyskinesia-systematic-review-and-meta-analysis
#17
Myrofora Goutaki, Anna Bettina Meier, Florian S Halbeisen, Jane S Lucas, Sharon D Dell, Elisabeth Maurer, Carmen Casaulta, Maja Jurca, Ben D Spycher, Claudia E Kuehni
Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all published studies on clinical manifestations of PCD patients, and to describe their prevalence and severity stratified by age and sex.We searched PubMed, Embase and Scopus for studies describing clinical symptoms of ≥10 patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity.We included 52 studies describing a total of 1970 patients (range 10-168 per study)...
October 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27486783/mutations-in-dnajb13-encoding-an-hsp40-family-member-cause-primary-ciliary-dyskinesia-and-male-infertility
#18
Elma El Khouri, Lucie Thomas, Ludovic Jeanson, Emilie Bequignon, Benoit Vallette, Philippe Duquesnoy, Guy Montantin, Bruno Copin, Florence Dastot-Le Moal, Sylvain Blanchon, Jean François Papon, Patrick Lorès, Li Yuan, Nathalie Collot, Sylvie Tissier, Catherine Faucon, Gérard Gacon, Catherine Patrat, Jean Philippe Wolf, Emmanuel Dulioust, Bruno Crestani, Estelle Escudier, André Coste, Marie Legendre, Aminata Touré, Serge Amselem
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. Affected individuals display recurrent respiratory-tract infections; most males are infertile as a result of sperm flagellar dysfunction. The great majority of the PCD-associated genes identified so far encode either components of dynein arms (DAs), which are multiprotein-ATPase complexes essential for ciliary motility, or proteins involved in DA assembly. To identify the molecular basis of a PCD phenotype characterized by central complex (CC) defects but normal DA structure, a phenotype found in ∼15% of cases, we performed whole-exome sequencing in a male individual with PCD and unexplained CC defects...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27486780/ttc25-deficiency-results-in-defects-of-the-outer-dynein-arm-docking-machinery-and-primary-ciliary-dyskinesia-with-left-right-body-asymmetry-randomization
#19
Julia Wallmeier, Hidetaka Shiratori, Gerard W Dougherty, Christine Edelbusch, Rim Hjeij, Niki T Loges, Tabea Menchen, Heike Olbrich, Petra Pennekamp, Johanna Raidt, Claudius Werner, Katsura Minegishi, Kyosuke Shinohara, Yasuko Asai, Katsuyoshi Takaoka, Chanjae Lee, Matthias Griese, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Sascha Sauer, John B Wallingford, Hiroshi Hamada, Heymut Omran
Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower airways, as well as by progressive lung failure and randomization of left-right body asymmetry. Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27478184/primary-ciliary-dyskinesia-the-patients-grow-up
#20
EDITORIAL
Claudia E Kuehni, Myrofora Goutaki, Mary Carroll, Jane S Lucas
No abstract text is available yet for this article.
August 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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