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Ciliary dyskinesia

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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
#1
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
#2
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
#3
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
#4
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)...
July 26, 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28579561/normal-values-of-offline-exhaled-and-nasal-nitric-oxide-in-healthy-children-and-teens-using-chemiluminescence
#13
Awen Menou, Diane Babeanu, Henry-Nicolas Paruit, Aline Ordureau, Sophie Guillard, Arnaud Christian Chambellan
Nitric oxide (NO) can be used to detect respiratory or ciliary diseases. Fractional exhaled nitric oxide (FeNO) measurement can reflect ongoing eosinophilic airway inflammation and has a diagnostic utility as a test for asthma screening and follow-up while nasal nitric oxide (nNO) is a valuable screening tool for the diagnosis of Primary Ciliary Dyskinesia (PCD). The possibility to collect airway gas samples in an offline manner offers the advantage to extend these measures and improve the screening and management of these diseases, but normal values from healthy children and teens remain sparse...
June 5, 2017: Journal of Breath Research
https://www.readbyqxmd.com/read/28577616/dnah1-gene-mutations-and-their-potential-association-with-dysplasia-of-the-sperm-fibrous-sheath-and-infertility-in-the-han-chinese-population
#14
Yanwei Sha, Xiaoyu Yang, Libin Mei, Zhiyong Ji, Xu Wang, Lu Ding, Ping Li, Shenmin Yang
OBJECTIVE: To investigate dynein, axonemal, heavy chain 1 (DNAH1) gene mutations that may be associated with dysplasia of the sperm fibrous sheath (DFS) and infertility in the Han Chinese population. DESIGN: Dysfunction of DNAH1 is known to cause multiple morphologic abnormalities of the flagella (MMAF), DFS, and infertility. Whole-exome sequencing was performed in DFS subjects and the healthy control subjects. SETTING: Not applicable. PATIENT(S): Twenty-one patients of Han ethnicity with primary infertility and diagnosed with asthenozoospermia and MMAF, but without primary ciliary dyskinesia...
June 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28552099/bacteriology-and-treatment-of-infections-in-the-upper-and-lower-airways-in-patients-with-primary-ciliary-dyskinesia-adressing-the-paranasal-sinuses
#15
Mikkel Christian Alanin
The respiratory tract is lined with motile cilia that transport respiratory mucus. Primary ciliary dyskinesia (PCD) is a chronic genetic disease caused by mutations in genes responsible for ciliary structure and function. Non-functional airway cilia impair the mucociliary clearance (MCC), causing mucostasis, lung infections and destruction, chronic rhinosinusitis (CRS) and hearing impairment. It is of paramount importance to postpone chronic lung infection mainly with Gram-negative bacteria (GNB) in patients with an impaired MCC...
May 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28543983/mutation-of-serine-threonine-protein-kinase-36-stk36-causes-primary-ciliary-dyskinesia-with-a-central-pair-defect
#16
Christine Edelbusch, Sandra Cindrić, Gerard W Dougherty, Niki T Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran
Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and progressive lung failure. Defects of the outer dynein arms are the most common cause of PCD. In about half of the affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor PCD subgroup including defects of the radial spokes (RS) and central pair (CP) is hallmarked by the absence of laterality defects, subtle beating abnormalities, and unequivocally apparent ultrastructural defects of the ciliary axoneme, making their diagnosis challenging...
August 2017: Human Mutation
https://www.readbyqxmd.com/read/28501546/diagnosis-of-primary-ciliary-dyskinesia-when-and-how
#17
J-J Braun, N Boehm, C Metz-Favre, I Koscinski, M Teletin, C Debry
INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities. METHODS: A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice. RESULTS: Chronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD...
May 10, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28495666/how-to-use-nasal-nitric-oxide-in-a-child-with-suspected-primary-ciliary-dyskinesia
#18
Kim Simpson, Malcolm Brodlie
Measuring nasal nitric oxide (nNO) is increasingly used as part of testing for primary ciliary dyskinesia (PCD). The diagnosis of PCD is often delayed until after bronchiectasis is established and auditory damage has occurred. It is important that all paediatricians are aware of clinical features that are suggestive of PCD that should prompt diagnostic testing. nNO levels are recognised to be low in people with PCD and results generated by static chemiluminescence analysers using velum closure technique in older children have good sensitivity and specificity...
May 11, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28494707/histologic-and-ultrastructural-findings-in-dogs-with-chronic-respiratory-disease-suspected-of-ciliary-dyskinesia
#19
Ileana C Miranda, Jennifer L Granick, Anibal G Armién
Mucociliary clearance is a main defense mechanism of the respiratory tract, which can be inherently impaired in primary ciliary dyskinesia (PCD) or reversibly altered in secondary ciliary dyskinesia (SCD). Limited diagnostic test availability likely leads to misdiagnosis or underdiagnosis of PCD in animals. This study evaluated the light and transmission electron microscopy (TEM) changes in the respiratory mucosa of 15 dogs with chronic respiratory disease suspected of PCD. Necropsy was performed in 1 case and 2 dogs were used as negative controls...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28483130/assessment-of-ciliary-beat-pattern-variability-in-healthy-control-subjects-has-implications-for-use-as-test-for-primary-ciliary-dyskinesia
#20
EDITORIAL
Margaret W Leigh, Michael R Knowles
No abstract text is available yet for this article.
May 2017: Chest
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