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Primary ciliary dyskinesia

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https://www.readbyqxmd.com/read/28915070/value-of-transmission-electron-microscopy-for-primary-ciliary-dyskinesia-diagnosis-in-the-era-of-molecular-medicine-genetic-defects-with-normal-and-non-diagnostic-ciliary-ultrastructure
#1
Adam J Shapiro, Margaret W Leigh
Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes...
September 15, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28894478/diagnosis-of-primary-ciliary-dyskinesia-summary-of-the-ers-task-force-report
#2
Claudia E Kuehni, Jane S Lucas
KEY POINTS: Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission...
September 2017: Breathe
https://www.readbyqxmd.com/read/28891733/application-of-laboratory-and-digital-techniques-for-visual-enhancement-during-the-ultrastructural-assessment-of-cilia
#3
Josef A Schroeder
Routine diagnostic electron microscopy of primary ciliary dyskinesia (PCD) is based on the findings of ultrastructural defects of axonemal components. Assessment of the typical abnormalities can be enhanced by improving the sample preservation status using tannic acid (TA) as additive in the biopsy fixation or processing steps. Another option is the implementation of computer-assisted image analysis tools. Advancements in high-resolution 3D visualization of the axonemal structure have been noted, with great potential for the future diagnosis of inherited cilia disorders...
September 11, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28890441/haemophilus-influenzae-biofilms-in-primary-ciliary-dyskinesia-a-moving-story
#4
EDITORIAL
Amelia Shoemark
No abstract text is available yet for this article.
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28890436/primary-ciliary-dyskinesia-ciliated-airway%C3%A2-cells-show-increased-susceptibility-to-haemophilus-influenzae-biofilm-formation
#5
Woolf T Walker, Claire L Jackson, Raymond N Allan, Samuel A Collins, Michael J Kelso, Ardeshir Rineh, Nageshwar R Yepuri, Ben Nicholas, Laurie Lau, David Johnston, Peter Lackie, Saul N Faust, Jane S A Lucas, Luanne Hall-Stoodley
Non-typeable Haemophilus influenzae (NTHi) is the most common pathogen in primary ciliary dyskinesia (PCD) patients. We hypothesised that abnormal ciliary motility and low airway nitric oxide (NO) levels on airway epithelial cells from PCD patients might be permissive for NTHi colonisation and biofilm development.We used a primary epithelial cell co-culture model to investigate NTHi infection. Primary airway epithelial cells from PCD and non-PCD patients were differentiated to ciliation using an air-liquid interface culture and then co-cultured with NTHi...
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28877972/clinical-care-for-primary-ciliary-dyskinesia-current-challenges-and-future-directions
#6
REVIEW
Bruna Rubbo, Jane S Lucas
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period...
September 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28866847/successful-conservative-management-of-an-anastomotic-airway-dehiscence-at-the-left-main-bronchus-following-bilateral-cadaveric-lung-transplantation
#7
Ryo Miyata, Toyofumi F Chen-Yoshikawa, Masatsugu Hamaji, Fumiaki Gochi, Hideki Motoyama, Toshi Menju, Akihiro Aoyama, Toshihiko Sato, Makoto Sonobe, Hiroshi Date
There is a dearth of data on management of anastomotic airway dehiscence following lung transplantation. Herein we report a case of successful conservative management of an anastomotic airway dehiscence after cadaveric donor lung transplantation. A 41-year-old woman with primary ciliary dyskinesia underwent cadaveric bilateral lung transplantation without cardiopulmonary bypass. On the postoperative day 25, left pneumothorax developed and bronchoscopy demonstrated a localized anastomotic dehiscence at the left main bronchus...
September 2, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28859703/sinus-bacteriology-in-patients-with-cystic-fibrosis-or-primary-ciliary-dyskinesia-a-systematic-review
#8
Maria E Møller, Mikkel C Alanin, Christian Grønhøj, Kasper Aanæs, Niels Høiby, Christian von Buchwald
BACKGROUND: A correlation exists between the microbial flora of the upper and lower airways in patients with cystic fibrosis (CF) or with primary ciliary dyskinesia (PCD). The sinuses can function as a bacterial reservoir where gram-negative bacteria adapt to the airways and repeatedly are aspirated to and colonize the lungs according to the theory of the united (unified) airways. Whereas the pattern of bacterial flora in the lower airways has been extensively studied, the upper airways have drawn limited attention...
September 1, 2017: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/28801648/an-effective-combination-of-whole-exome-sequencing-and-runs-of-homozygosity-for-the-diagnosis-of-primary-ciliary-dyskinesia-in-consanguineous-families
#9
Ting Guo, Zhi-Ping Tan, Hua-Mei Chen, Dong-Yuan Zheng, Lv Liu, Xin-Gang Huang, Ping Chen, Hong Luo, Yi-Feng Yang
Primary ciliary dyskinesia (PCD) is clinically characterized by neonatal respiratory distress, chronic sinusitis, bronchiectasis and infertility, and situs inversus in 50% of the patients. PCD is a result of mutations in genes encoding proteins involved in ciliary function, and is primarily inherited in an autosomal recessive fashion. Diagnosis of PCD is often a challenging task due to its high clinical and genetic heterogeneities. In the present study, we attempted to use whole-exome sequencing (WES) combined with runs of homozygosity (ROH) approaches to identify the genetic defects in four Chinese consanguineous families with clinical PCD...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28790179/high-prevalence-of-ccdc103-p-his154pro-mutation-causing-primary-ciliary-dyskinesia-disrupts-protein-oligomerisation-and-is-associated-with-normal-diagnostic-investigations
#10
Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P Patel, Evelyn A Robson, Jane Hayward, Juliet Scully, Mahmoud R Fassad, William Lamb, Miriam Schmidts, Mellisa Dixon, Ramila S Patel-King, Andrew V Rogers, Andrew Rutman, Claire L Jackson, Patricia Goggin, Bruna Rubbo, Sarah Ollosson, Siobhán Carr, Woolf Walker, Beryl Adler, Michael R Loebinger, Robert Wilson, Andrew Bush, Hywel Williams, Christopher Boustred, Lucy Jenkins, Eamonn Sheridan, Eddie M K Chung, Christopher M Watson, Thomas Cullup, Jane S Lucas, Priti Kenia, Christopher O'Callaghan, Stephen M King, Claire Hogg, Hannah M Mitchison
RATIONALE: Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of primary ciliary dyskinesia in the UK South Asian population is 1:2265. Early, accurate diagnosis is key to implementing appropriate management but clinical diagnostic tests can be equivocal. OBJECTIVES: To determine the importance of genetic screening for primary ciliary dyskinesia in a UK South Asian population with a typical clinical phenotype, where standard testing is inconclusive...
August 8, 2017: Thorax
https://www.readbyqxmd.com/read/28783864/nasal-nitric-oxide-measurement-and-a-modified-picadar-score-for-the-screening-of-primary-ciliary-dyskinesia-in-adults-with-bronchiectasis
#11
J Rademacher, A Buck, N Schwerk, M Price, J Fuge, T Welte, F C Ringshausen
Background Determining the underlying diagnosis is essential for the targeted and specific treatment of bronchiectasis. Primary ciliary dyskinesia (PCD) is a rare genetic disease, which is characterized by abnormalities in ciliary structure and/or function and which may result in bronchiectasis. The disease is probably underestimated among adults with bronchiectasis due to the fact that extensive diagnostic testing is required and that the recognition of PCD is low. Objective To evaluate a feasible screening algorithm for PCD among adults with bronchiectasis...
August 2017: Pneumologie
https://www.readbyqxmd.com/read/28745925/clinical-care-of-children-with-primary-ciliary-dyskinesia
#12
Jane S Lucas, Mikkel Christian Alanin, Samuel Collins, Amanda Harris, Helle Krogh Johansen, Kim G Nielsen, Jean Francois Papon, Phil Robinson, Woolf T Walker
Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF)...
August 2, 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28726737/respiratory-tract-infections-and-the-role-of-biologically-active-polysaccharides-in-their-management-and-prevention
#13
REVIEW
Milos Jesenak, Ingrid Urbancikova, Peter Banovcin
Respiratory tract infections (RTIs) are the most common form of infections in every age category. Recurrent respiratory tract infections (RRTIs), a specific form of RTIs, represent a typical and common problem associated with early childhood, causing high indirect and direct costs on the healthcare system. They are usually the consequence of immature immunity in children and high exposure to various respiratory pathogens. Their rational management should aim at excluding other severe chronic diseases associated with increased morbidity (e...
July 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28687245/movement
#14
REVIEW
Thomas Ferkol
Primary ciliary dyskinesia is an inherited disease characterized by impaired ciliary function leading to diverse clinical manifestations, including chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and infertility. Our understanding of the complex genetics and functional phenotypes of primary ciliary dyskinesia has rapidly grown, and over 35 disease-associated genes have been identified, which segregate into genes that encode axonemal motor proteins, regulatory proteins within the cilium, and cytoplasmic proteins involved in ciliary assembly...
June 12, 2017: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28665204/primary-ciliary-dyskinesia-diagnosis-is-color-better-than-black-and-white
#15
Michael R Knowles, Margaret W Leigh
No abstract text is available yet for this article.
July 1, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28649564/primary-ciliary-dyskinesia-an-update-on-clinical-aspects-genetics-diagnosis-and-future-treatment-strategies
#16
REVIEW
Virginia Mirra, Claudius Werner, Francesca Santamaria
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28634892/lung-clearance-index-lci-is-stable-in-most-primary-ciliary-dyskinesia-pcd-patients-managed-in-a-specialist-centre-a-pilot-study
#17
S Irving, S Carr, C Hogg, M Loebinger, A Shoemark, A Bush
Primary ciliary dyskinesia is a condition in which abnormal cilia structure or function leads to reduced mucociliary clearance and obstructive lung disease. Twenty-nine patients had lung clearance index (LCI) measured in 2009 and we attempted to perform a 5-year follow-up. Only 12 patients could be re-recruited, but in this small group LCI was stable over the 5 years, which confirms previous data showing that spirometry is also stable in these patients over the medium term. The two patients with the highest LCI in 2009 had since died, despite one having relatively preserved spirometry at the time...
August 2017: Lung
https://www.readbyqxmd.com/read/28621423/roles-of-the-cilium-associated-gene-ccdc11-in-left-right-patterning-and-in-laterality-disorders-in-humans
#18
Michal Gur, Enbal Ben-Tal Cohen, Olga Genin, Abraham Fainsod, Zeev Perles, Yuval Cinnamon
Axial determination occurs during early stages of embryogenesis. Flaws in laterality patterning result in abnormal positioning of visceral organs, as manifested in heterotaxy syndrome, or complete left-right inversion as in situs inversus totalis. These malformations are often associated with ciliopathies, as seen in primary ciliary dyskinesia. We have recently described a novel mutation in the Coiled-Coil Domain-Containing 11 (CCDC11) gene associated with laterality disorders in a consanguineous family of Arab-Muslim origin with two affected siblings presenting with diverse phenotypes, one with heterotaxy syndrome and the other with non-primary ciliary dyskinesia situs inversus totalis...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28616378/primary-ciliary-dyskinesia-presenting-with-spontaneous-pneumothorax-case-report-and-review-of-the-literature
#19
Jia Hou, Yanan Zhang, Ri Gong, Xiwei Zheng, Xia Yang
BACKGROUND: Primary ciliary dyskinesia (PCD) is an autosomal recessive heterogeneous group of conditions with variable clinical findings. CASE PRESENTATION: A 36-year-old nonsmoking Chinese man present to the emergency department of our hospital with acute-onset breathlessness and sudden-onset left-sided chest pain. The patient had 6 years primary infertility and suffered from recurrent episodes of respiratory tract infections since childhood. Chest X-ray was performed, which showed a left-sided pneumothorax with lung collapse...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28596950/review-quality-of-life-in-children-with-non-cystic-fibrosis-bronchiectasis
#20
REVIEW
Anna Marie Nathan, Jessie Anne de Bruyne, Kah Peng Eg, Surendran Thavagnanam
Non-cystic fibrosis bronchiectasis (NCFB) has gained renewed interest, due to its increasing health-care burden. Annual mortality statistics in England and Wales showed that under 1,000 people die from bronchiectasis each year, and this number is increasing by 3% yearly. Unfortunately, there is a severe lack of well-powered, randomized controlled trials to guide clinicians how to manage NCFB effectively. Quality-of-life (QOL) measures in NCFB are an important aspect of clinical care that has not been studied well...
2017: Frontiers in Pediatrics
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