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Primary Ciliary Dyskinesia 13

PCD


Presentation

  • Associated symptoms were present in 46% of the cases.[archbronconeumol.org]
  • Acronym CILD13 Synonyms ICS13 Immotile cilia syndrome 13 Primary ciliary dyskinesia 13 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]
  • Nine presented a neonatal respiratory distress syndrome (NRDS) of unknown cause. Six of these patients were newborns treated in the intensive care unit, one of them needed mechanical ventilation.[link.springer.com]
  • Respiratory distress in neonates, chronic suppurative lung disease, chronic serous otitis media, and chronic rhinosinusitis are the common respiratory presentations of PCD. 2 Situs inversus is present in half of PCD cases.[dovepress.com]
  • Neonates typically present with respiratory distress and rhinitis. Respiratory symptoms are present in 65–87% 1 , 14 of neonates and range from mild transient tachypnoea to significant respiratory failure requiring prolonged respiratory support.[adc.bmj.com]
Normal Hair
  • A normal hair cell is made up of 250 proteins organized around an axoneme or set of microtubules which extend from the cytoplasm to the far end of the cilium.[archbronconeumol.org]

Treatment

  • Part A/ Treatment Period 1: Placebo Part A/ Treatment Period 2: VX-371 Part B/ Treatment Period 3: VX-371 Ivacaftor Drug: VX-371 Drug: Placebo (0.17% saline) Drug: Ivacaftor Primary Outcome Measures : Safety and Tolerability assessments as determined[clinicaltrials.gov]
  • LEARN MORE TREATMENT PCD treatment requires a multi-disciplinary approach. LEARN MORE CLINICAL CENTERS Clinical centers are crucial to accelerating access to better therapies and ultimately cure(s) for individuals with PCD.[pcdfoundation.org]
  • Apply the latest treatment options in pediatric care with new chapters on pediatric sleep disorders, pediatric infectious disease, and evaluation and management of the infant airway.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Most of the centers also treat adults with cystic fibrosis, as the two diseases have some of the same treatments. In the U.S. two major centers are Chapel Hill, and National Institute of Health (NIH) in Washington, D.C.[healthunlocked.com]

Prognosis

  • Content This Book Next chapter Eosinophilic Bronchiolitis in Asthma - A Patient with Bronchial Asthma in whom Eosinophilic Bronchitis and Bronchiolitis Developed During Treatment By Yasutsugu Fukushima and Kuniyoshi Kamiya Related Book First chapter The Prognosis[intechopen.com]
  • Once bronchiectasis is established, prognosis worsens significantly.[patient.info]
  • 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]
  • 50 times before the diagnosis was made. 6 A European survey showed a median age of diagnosis of 5.3 years, lower in children with situs inversus (3.5 years vs 5.8 years). 3 Most observational studies in PCD have been cross-sectional, and knowledge of prognosis[adc.bmj.com]
  • This challenge is a problem, due to the fact that the later PCD is diagnosed, the worse the prognosis is ( 3 ).[spandidos-publications.com]

Epidemiology

  • 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]
  • Epidemiology PCD has variable reported prevalence across Europe reflecting true variability as well as differences in access to diagnostic facilities. 3 Commonly quoted figures for prevalence are between 1:4000 and 1:40 000, with the true prevalence probably[adc.bmj.com]
  • The contribution was awarded the ERS grant for ‘Best abstract in Paediatric Respiratory Epidemiology’. Funding No funding was available for this research.[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • 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]

Prevention

  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • A number of measures to prevent respiratory tract infection and irritation should be considered.[slideshare.net]
  • 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]
  • This would make it possible to initiate treatment at an early stage and to implement a program of clinical monitoring which, while they will not be able to prevent the development of the disease, would prove effective in controlling it since, as it is[archbronconeumol.org]
  • Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity of PCD.[spandidos-publications.com]

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