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 CILD7 Synonyms ICS7 Immotile cilia syndrome 7 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Ciliopathies share many overlapping symptoms, often making it difficult to distinguish between them based on clinical presentation alone. [invitae.com]

In cilia from PCD cells, DNAH7 was undetectable, whereas intracellular DNAH7 was clearly present. These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of PCD. [ncbi.nlm.nih.gov]

Results The clinical characteristics of these children are presented in Table I. The age at presentation ranged from 1-84 days. [jpma.org.pk]

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]

On the basis of treatment, the market is categorized into drug treatment, radiotherapy, chemotherapy, others. On the basis of drug treatment, it is further segmented into clarithromycin, erythromycin and azithromycin, and others. [openpr.com]

[…] 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]

Saline breathing treatments. Continued treatment for asthma- although at the moment the immunologist and pulmonologist think she may not even have asthma. The diagnosis today was preliminary. [forums.cysticfibrosis.com]

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]

With the resulting meta-cohort it is possible to i) describe the clinical presentation, growth and lung function over the course of life, ii) evaluate diagnostic examinations and evaluate treatments in use, and iii) evaluate long-term prognosis. [ispm.unibe.ch]

Once bronchiectasis is established, prognosis worsens significantly. [patient.info]

Treatment and prognosis The natural progression of primary ciliary dyskinesia is relatively slow compared to cystic fibrosis for example, but nonetheless, up to 25% of patients eventually develop respiratory failure 4. [radiopaedia.org]

This should be avoided, since differences in pathophysiology, morbidity, and prognosis will likely lead to problems of treatment failure and lack of adherence. [eprints.soton.ac.uk]

In one retrospective study on children with bronchiectasis in Korea, primary PCD were documented in 4.3% of patients as an underlying etiology [2]. [journals.viamedica.pl]

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]

Epidemiology, airway defense mechanisms, pathogenesis, imaging and genetic causes of bronchiectasis are discussed. Allergic bronchopulmonary aspergillosis is addressed, as well as non-tuberculous mycobacteria as a cause of bronchiectasis. [books.google.com]

Claudia Kuehni The Paediatric Respiratory Epidemiology Group studies the epidemiology of frequent and rare respiratory disorders during childhood and over the life course. [ispm.unibe.ch]

Epidemiology The incidence of the genetic disorder is 1 in 32,000 births [ 5 ]. However, higher incidences have been found in communities in which consanguineous marriages are common [ 6 ]. [patient.info]

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. [frontiersin.org]

This should be avoided, since differences in pathophysiology, morbidity, and prognosis will likely lead to problems of treatment failure and lack of adherence. [eprints.soton.ac.uk]

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]

With the chance discovery of abnormalities of spermatozoal motility in such individuals 2, a pathophysiological basis for this disorder, labelled immotile cilia syndrome, became known 3. [jpma.org.pk]

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]

View Article : Google Scholar : PubMed/NCBI 7 Narang I, Ersu R, Wilson NM and Bush A: Nitric oxide in chronic airway inflammation in children: Diagnostic use and pathophysiological significance. Thorax. 57:586–589. 2002. [spandidos-publications.com]

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]

According to the Centers for Disease Control and Prevention (2014), 9.3 million adults diagnosed with respiratory problems. [openpr.com]

Aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections have been observed to slow lung-disease progression. [sites.google.com]

Frustratingly for the patient, this can cause delays by weeks or even months, but preventing brushings which will not result in a conclusive outcome is time and cost effective for the NHS, and it prevents repeated sampling for the patient. [journals.rcni.com]

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