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 CILD22 Synonyms Primary ciliary dyskinesia 22 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]

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

Flagella and cilia present the same basic structure, although flagella present different movements and some additional elements. [jped.com.br]

Associated symptoms were present in 46% of the cases. [archbronconeumol.org]

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]

[…] 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]

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]

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

The network is coordinating research from basic science to clinical care, with the ultimate goal to improve diagnosis and develop treatments that lead to improvements in long-term outcome of patients with PCD. Read more. [beatpcd.org]

The earlier diagnosis and the right treatment are both crucial to improve the prognosis of PCD. [pesquisa.bvsalud.org]

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]

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]

CpG island methylator phenotype is a strong determinant of poor prognosis in neuroblastomas. Abe M, Ohira M, Kaneda A, Yagi Y, Yamamoto S, Kitano Y, Takato T, Nakagawara A, Ushijima T. Cancer Res. 2005 Feb 1;65(3):828-34. [atlasgeneticsoncology.org]

PMID 23829175 Epigenetic silencing of BLU through interfering apoptosis results in chemoresistance and poor prognosis of ovarian serous carcinoma patients. Chiang YC, et al. Endocr Relat Cancer, 2013 Apr. [ncbi.nlm.nih.gov]

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]

A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. 1977; 297: 11-6. 4) Pedersen M, Morkassel E, Nielsen M, Mygind N. Kartagener’s Syndrome. [sisbib.unmsm.edu.pe]

The etiology of this syndrome is unknown. The cause of the epididymal obstruction is not entirely clear. [jped.com.br]

It is a genetic condition with an autosomal recessive inheritance, [1], [2] comprising a triad of situs inversus, bronchiectasis and sinusitis. [1], [2] Although Siewart first described this condition in 1904, it was Kartagener who recognized the etiological [lungindia.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]

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]

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

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]

As clinical data collection is fundamental not only for clinical care but also for registry development and studies such as cohort, interventions, genetic and epidemiological, these lessons are applicable across many other settings. [f1000research.com]

Ciliopatías Discinesia ciliar primaria y secundaria Current issues in the basic mechanisms, pathophysiology, diagnosis and management of primary ciliary dyskinesia [pdfs.semanticscholar.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]

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]

[…] function of cilia. [7], [8] Such defects are identified in approximately 90% [9] of PCD patients and involve the outer dynein arms, inner dynein arms, or both. 38% [9] of the PCD patients carry mutations of the dynein genes DNAI [10] and DNAH5. [6] Pathophysiologically [lungindia.com]

Pathophysiology Before describing the main ciliary alterations that lead to ciliary dyskinesia, we review the current knowledge about morphology and normal mucociliary function (,,). a) Normal cilium ultrastructure Cilia are cellular projections that [jped.com.br]

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]

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]

Protein coding - C9JUQ8 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA. [ensembl.org]