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]

Acronym CILD18 Synonyms ICS18 Immotile cilia syndrome 18 Primary ciliary dyskinesia 18 with or without situs inversus Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only [uniprot.org]

Animals with reduced function of HEATR2, effected by targeted RNAi, exhibit auditory perception defects, an uncoordinated phenotype, and immotile sperm; cilia of chordotonal organs are present, but their axonemes lack both outer and inner dynein arms. [flybase.org]

• Collapse

  Dextrocardia with respiratory symptoms Triad of chronic ear infections, sinusitis and lower airways disease Bronchiectasis of unknown etiology Chronic draining ears with chronic lower respiratory tract symptoms Unexplained neonatal respiratory syndrome (eg. collapsed [sickkids.ca]

  Finally in January 2012, around her second birthday, a CT scan showed that Kylie has a collapsed middle right lung and a build-up of excess mucus in her lower left lung, called bronchiectasis. [bbc.co.uk]

  On the fourth day of life, a chest radiograph showed right upper lobe atelectasis that progressively worsened to collapse of the right lung ( Fig 1 ). [hosppeds.aappublications.org]

  The authors recommended a pediatric pulmonologist referral for a PCD assessment in patients with a combination of any two of lobar collapse on chest radiography, situs inversus, and oxygen therapy for 2 days (87% sensitivity and 96% specificity for PCD [dovepress.com]

  M ullowney et al. [ 6 ] demonstrated that the combination of lobar collapse, situs inversus and/or persistent oxygen therapy for over 2 days in term newborns with respiratory distress can accurately predict PCD. [err.ersjournals.com]

• Pathologist

  Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication [invitae.com]

• Recurrent Sinusitis

  The clinical consequences of the immotile cilia syndrome include chronic cough and expectoration, bronchiectasis, chronic rhinitis and nasal polyposis, chronic or recurrent sinusitis, and often an agenesis of the frontal sinuses. [ommbid.mhmedical.com]

  Many children experience recurrent sinusitis. In the ears, mucociliary clearance in the eustachian tubes is responsible for clearing the middle ear. Children experience recurrent otitis media, glue ear and hearing loss. [journals.rcni.com]

• Recurrent Bacterial Infection

  Recurrent bacterial infections in the lower airways and nasal passageways often lead to chronic or recurrent pneumonia, sinusitis, and otitis media. [invitae.com]

• Hunting

  Permanent damage Image caption An X-ray showing bronchiectasis in the lungs Scientists at University College London Institute of Child Health are researching the illness in more detail, funded by Action Medical Research, hunting for genetic changes that [bbc.co.uk]

• Hearing Problem

  Over half of children with PCD also have hearing problems, meaning they need hearing aids.” Long-term infections require treatment with multiple courses of antibiotics, with children sometimes needing to stay in hospital. [action.org.uk]

• Excitement

  This year is extra exciting as we are celebrating 15 years of serving the PCD community. [eventbrite.com]

  A new exciting era is cheerfully rising from genetic studies that will result in improving the outcome of affected patients. [frontiersin.org]

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]

Occasionally, despite the best treatment, it may progress to the point that a patient may need a lung transplant. [lung.org]

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]

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]

The aim is to dislodge as much of the mucus as possible and prevent it collecting in her lungs where bacteria can colonise. [bbc.co.uk]

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

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