PCD Research at European Respiratory Society Congress, September 2015 PCD research was presented during ERS during 18 oral presentations, poster discussions and thematic posters. [beatpcd.org]

Written for pulmonary clinicians and scientists alike, Molecular Basis of Lung Disease: Insights from Rare Disorders is a comprehensive and invaluable nesource that sheds new light on the molecular mechanisms influencing the clinical presentation and [books.google.com]

The majority of PCD patients present with significant respiratory distress in immediate new born period. Chronic rhinosinusitis, recurrent otitis media are common clinical presentations in upper airway. [japi.org]

Associated symptoms were present in 46% of the cases. [archbronconeumol.org]

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  Chronic otitis media is common, sometimes with temporary or permanent hearing loss and impaired speech development. Most patients have recurrent sinus infections. Bronchiectasis develops in an age-dependent manner, and is nearly universal in adults. [orpha.net]

Right now, there is no way to fix faulty cilia, so treatments address the symptoms of PCD and work to improve patients’ quality of life. [childrenscolorado.org]

[…] suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnostic approaches, conventional management and treatment [books.google.com]

Treatment includes aggressive airway clearance techniques and antibiotic treatments. These steps can lead to stable lung function for years. How serious is primary ciliary dyskinesia? Cases of PCD vary greatly in severity. [stlouischildrens.org]

There is currently no cure for PCD - it is a life-long condition and Clover has to do chest physio 3 times a day along with nebulised treatments and a constant stream of oral antibiotic medications. [justgiving.com]

Management and treatment Regular clinical visits to monitor disease status are key. Aggressive treatment to improve mucus clearance is recommended. Antibiotic therapy is required and routine immunization is recommended. [orpha.net]

With modern care and abstinence from smoking, the prognosis in the immotile cilia syndrome is good. The immotile cilia syndrome clearly is a genetically heterogeneous disease, although its clinical profile is fairly uniform. [ommbid.mhmedical.com]

Prognosis The prognosis depends on timely diagnosis and appropriate treatment. Life expectancy is likely somewhat shortened, although quantitative estimates are not currently available. [orpha.net]

[…] a retrospective international cohort that assembles available datasets with clinical and diagnostic data from patients suffering from primary ciliary dyskinesia (PCD) worldwide, to answer pertinent questions on clinical phenotype, disease severity, prognosis [patientwing.com]

Treatment efficacy and prognosis are largely derived from a handful of small longitudinal studies [ 53 ], while most observational studies use a cross-sectional design. [err.ersjournals.com]

Prognosis The severity of the disease is generally perceived as less severe than that of CF, for probably multiple factors. A Danish study reported longitudinal lung function in 24 patients diagnosed with PCD. [academic.oup.com]

Children up to 18 years of age with established PCD Children with suspected PCD suggested by the following findings: Dextrocardia with respiratory symptoms Triad of chronic ear infections, sinusitis and lower airways disease Bronchiectasis of unknown etiology [sickkids.ca]

Etiology Pulmonary disease in PCD is related to defects in lung defense mechanisms due to abnormal ciliary structure and function with impaired mucociliary clearance. [orpha.net]

The immotile- cilia syndrome: a congenital ciliary abnormality as an etiological factor in chronic airway infections and male sterility. N Engl J Med 1977;297:1-6. Wanner A, Salathe M, O’Riorden TG. Mucociliary clearance in the airways. [japi.org]

In patients with PCD, levels of exhaled NO are extremely low (∼10% of normal value) even when compared to other etiologies for low exhaled NO. [academic.oup.com]

Non-cystic fibrosis bronchiectasis in children: clinical profile, etiology and outcome. Indian Pediatr (2015) 52:35–7. doi:10.1007/s13312-015-0563-8 PubMed Abstract | CrossRef Full Text | Google Scholar 34. [frontiersin.org]

Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models [books.google.com]

Research Prizes to BEAT-PCD members at European Respiratory Society Congress, September 2015 Congratulations to Panayiotis Kouis who won the Respiratory Paediatric Assembly Epidemiology prize for his abstract “Diagnostic accuracy of nasal nitric oxide [beatpcd.org]

Clinical Trial NCT02419365 - Observational patient registry The purpose of the international prospective PCD Patient Registry is to systematically measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological [patientwing.com]

Summary Epidemiology PCD has an estimated incidence of 1/15,000-1/30,000 live births, but this is probably an underestimate. Prevalence is difficult to determine. [orpha.net]

Meta-analysis of observational studies in epidemiology: a proposal for reporting. Meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. JAMA 2000; 283 :2008–12. 22. Nyaga VN, Arbyn M, Aerts M. [nature.com]

This article describes normal ciliary structure, pathophysiologic correlation, clinical characteristics, diagnostic and treatment modalities of PCD. [japi.org]

Bush Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance Thorax, 57 (2002), pp. 586-589 [31.] B. Karadag, A.J. James, E. Gültekin, N.M. Wilson, A. [apcontinuada.com]

Overall, the more that the genetics of PCD unfold, the more is revealed about the pathophysiology of the disease, the spectrum of phenotypic variation, with the notion of classic and non-classic disease emerging. 16 Table 2 PCD-associated genes in humans [academic.oup.com]

At least 32 genes have been implicated in this condition. [8] Another gene associated with this condition is GAS2L2. [9] Pathophysiology [ edit ] CT image showing situs inversus. [en.wikipedia.org]

Current issues in the basic mechanisms, pathophysiology, diagnosis and management of primary ciliary dyskinesia. Eur Respir Mon, 37 (2006), pp. 291-313 [8] U.W. Goodenough, J.E. Heuser. [archbronconeumol.org]

Although research is ongoing, and many questions remain to be answered, it is highly likely that early diagnosis, good preventive healthcare, early treatment of infections, and avoiding other risk factors, such as cigarette smoking, can help prevent PCD [lung.org]

AAF’s mission is to improve treatment, prevent, and find a cure for the disease. [uhhospitals.org]

Many genes participate in the construction of a cilium, and an error in any one of them will prevent the cilia from working properly. The inheritance in most cases is autosomal recessive. [ommbid.mhmedical.com]

A number of measures to prevent respiratory tract infection and irritation should be considered. [slideshare.net]

Protein coding - H7C3B1 - 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS. [ensembl.org]