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Primary Ciliary Dyskinesia 23

PCD


Presentation

  • Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols.[books.google.com]
  • […] sensitivity). 1 Ambry's PCDNext testing can detect 99.9% of described mutations in the included genes listed above, when present (analytic sensitivity).[ambrygen.com]
  • Acronym CILD23 Synonyms Primary ciliary dyskinesia 23 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]
  • There is thus a great variation in the presentation of heterotaxy. Hydrocephalus This is a rare complication of PCD but has been known to occur, probably due to ciliary abnormality.[news-medical.net]
Pediatric Disorder
  • Ferkol TW and Leigh MW (2012) Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. Journal of Pediatrics 160: 366–371.[els.net]
Excitement
  • This year is extra exciting as we are celebrating 15 years of serving the PCD community.[eventbrite.com]
  • This publication arrives at a very exciting time when new genetic, imaging, and therapeutic developments are changing the field.[books.google.es]
  • A new exciting era is cheerfully rising from genetic studies that will result in improving the outcome of affected patients.[frontiersin.org]

Workup

Pseudomonas
  • LEARN MORE PCDF 15th Anniversary Celebration Variation in treatment strategies for the eradication of Pseudomonas aerugi... READ MORE With all the research being done with PCD, it is important for pulmonologists to...[pcdfoundation.org]
  • Chronic sinusitis and airway infections are prominent in this group, with organisms such as Hemophilus influenzae and Streptococcus pneumoniae at first, but with Pseudomonas aeruginosa superseding them after early childhood.[news-medical.net]
  • In the total group of PCD patients, the Pseudomonas positive patients were significantly older (n   28, median age 23.6 y) (p 0.017) and had significantly lower FEV 1 z-scores (median FEV 1 z-score 2.2) (p 0.032) than the Pseudomonas negative patients[ojrd.biomedcentral.com]
  • Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia. Respir Med. 2017 Oct;131:241-246. Werner C, Kouis P.[beatpcd.org]
  • Haemophilus influenzae, Streptococcus pneumoniae and Staphylococcus aureus are frequently found, with Pseudomonas aeruginosa and nontuberculous mycobacteria seen less frequently.[breathe.ersjournals.com]

Treatment

  • 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]
  • Research may, for example, target new treatments to aid cough clearance in PCD patients.[med.unc.edu]
  • 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]

Prognosis

  • Prognosis The prognosis depends on timely diagnosis and appropriate treatment. J Med Genet ; Otologic manifestation of the immotile cilia syndrome.[botgram.mobi]
  • […] related to ARMC4 gene prognosis reporting PUBMED functional study ARMC4 staging "Whole genome and transcriptome sequencing of match ...... " 26330360 Pubmed reporting Reported miRNA regulation of ARMC4 gastric cancer No result found. gene prognosis reporting[cis.hku.hk]
  • 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]
  • Direct analysis on the prognosis of a given mutation based on the TCGA data is possible using the cBioPortal [ 32 ].[genomemedicine.biomedcentral.com]

Etiology

  • 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

  • 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]
  • In between are chapters on cardiac embryogenesis; epidemiology; genetic syndromes associated with cardiovascular anomalies; single gene disorders; cardiac imaging; surgical and interventional therapies; and ethical considerations.[books.google.es]
  • 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]
  • 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

  • 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]
  • Using DHSV imaging, patients with PCD can be classified into 3 distinct groups on the basis of ciliary beat pattern (see Pathophysiology).[emedicine.medscape.com]
  • As the pathophysiology of CF and PCD are fundamentally different such extrapolation is unsatisfactory.[breathe.ersjournals.com]
  • 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]
  • Usually, patients are treated according expert opinion or to available evidence for CF, despite differences in the pathophysiology of the two disorders are evident.[frontiersin.org]

Prevention

  • A number of measures to prevent respiratory tract infection and irritation should be considered.[slideshare.net]
  • Protein coding - R4GN11 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.[ensembl.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]
  • Early Signs and Symptoms The clinical features in PCD are due to three contributory factors, namely: Abnormal structure, function, or assembly of cilia which prevent the clearance of mucus and bacteria from the respiratory tract, causing chronic infections[news-medical.net]
  • Early diagnosis is important in order to provide prophylactic treatment to prevent or decrease damage to the respiratory system from recurrent infections.[rarediseases.org]

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