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]

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

En el presente artículo se describe la compleja interrelación entre la variación genética y un tratamiento inespecífico apropiado del síndrome. [archbronconeumol.org]

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]

In addition, Circassia presented data from its recently completed study comparing nNO levels of known PCD subjects with healthy subjects. [circassia.com]

• Turkish

  Önerci has authored almost 200 papers in national or international journals and many book chapters, and is also the author or editor of 14 books in Turkish and three in English. [books.google.com]

• Hearing Impairment

  Upper airway symptoms include rhinosinusitis and recurrent serous otitis media with hearing impairment [ 6 ]. Situs inversus is found in approximately 50% of cases and situs ambiguous is seen in approximately 10% of cases [ 6, 7 ]. [link.springer.com]

• Headache

  Individuals with PCD may also have situs inversus or situs ambiguous, headaches or hydrocephalus. All the causative genes identified thus far have roles in the development and function of cilia and flagella. [flystocks.bio.indiana.edu]

  Symptoms of hydrocephaly include: Neurological Digestive and Urinary Movement Increased sleepiness/fatigue Nausea Altered pattern of walking (gait) Seizures Vomiting Poor coordination Headaches Loss of bladder control Generalized slowing of arm/leg movement [study.com]

  Recommendations for surgical indications arising from this review include: nasal obstruction, polyposis, headache or facial pain, medialization of the lateral nasal wall and pulmonary exacerbations associated with sinusitis refractory to medical treatment [medcraveonline.com]

• Communicating Hydrocephalus

  Complications [ 11 ] Complications include bronchiectasis, pneumonia, conductive deafness and communicating hydrocephalus. [patient.info]

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]

This network will promote research from basic science to clinical care, with the ultimate goal being to develop treatments that lead to measurable improvements in long-term outcomes of PCD patients. [ispm.unibe.ch]

Treatment for Primary Ciliary Dyskinesia Unfortunately, there is no particular treatment discovered to cure faulty airway cilia. Hence, treatment of this syndrome aims at complications and symptoms. [byjus.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]

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, 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]

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]

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

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]