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Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics. Shapiro AJ, et al. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. Am J Respir Crit Care Med. 2018. PMID: 29905515 Free PMC article.
Primary Ciliary Dyskinesia.
Shoemark A, Harman K. Shoemark A, et al. Semin Respir Crit Care Med. 2021 Aug;42(4):537-548. doi: 10.1055/s-0041-1730919. Epub 2021 Jul 14. Semin Respir Crit Care Med. 2021. PMID: 34261178
Other symptoms reflect the multiple roles of motile cilia in other organs and can include otitis media and hearing loss, infertility, situs inversus, complex congenital heart disease, and more rarely other syndromic features such as hydrocephalus and retinitis pigme …
Other symptoms reflect the multiple roles of motile cilia in other organs and can include otitis media and hearing loss, infertility, sit …
Human Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V. Soofi M, et al. Am J Med Sci. 2021 Sep;362(3):233-242. doi: 10.1016/j.amjms.2021.05.020. Epub 2021 May 28. Am J Med Sci. 2021. PMID: 34052215 Review.
Situs inversus totalis is mirror image reversal of thoraco-abdominal organs/great vessels. Situs ambiguus, better known as heterotaxy, is abnormal arrangement of thoraco-abdominal organs across the left-right axis excluding situs inversus totali …
Situs inversus totalis is mirror image reversal of thoraco-abdominal organs/great vessels. Situs ambiguus, better known …
Clinical care of children with primary ciliary dyskinesia.
Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT. Lucas JS, et al. Expert Rev Respir Med. 2017 Oct;11(10):779-790. doi: 10.1080/17476348.2017.1360770. Epub 2017 Aug 2. Expert Rev Respir Med. 2017. PMID: 28745925 Review.
Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for …
Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic …
Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
Wang R, Yang D, Tu C, Lei C, Ding S, Guo T, Wang L, Liu Y, Lu C, Yang B, Ouyang S, Gong K, Tan Z, Deng Y, Tan Y, Qing J, Luo H. Wang R, et al. Front Med. 2023 Oct;17(5):957-971. doi: 10.1007/s11684-023-0988-8. Epub 2023 Jun 13. Front Med. 2023. PMID: 37314648
Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous family. The patient manifested sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining analysi …
Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous …
Progress in diagnosis of primary ciliary dyskinesia.
Wei S, Xie H, Cheng Y. Wei S, et al. J Paediatr Child Health. 2022 Oct;58(10):1736-1740. doi: 10.1111/jpc.16196. Epub 2022 Sep 7. J Paediatr Child Health. 2022. PMID: 36069395 Review.
The main manifestations are bronchiectasis, chronic sinusitis and situs inversus (viscera translocation triad). Additionally, it can present as male infertility and female ectopic pregnancy. ...
The main manifestations are bronchiectasis, chronic sinusitis and situs inversus (viscera translocation triad). Additionally, …
Diagnosis and management of primary ciliary dyskinesia.
Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; National PCD Service, UK. Lucas JS, et al. Arch Dis Child. 2014 Sep;99(9):850-6. doi: 10.1136/archdischild-2013-304831. Epub 2014 Apr 25. Arch Dis Child. 2014. PMID: 24771309 Free PMC article. Review.
Nasal symptoms and respiratory distress usually start soon after birth, and by adulthood bronchiectasis is invariable. Organ laterality defects, usually situs inversus, occur in 50% of cases. The estimated prevalence of PCD is up to 1 per 10,000 births, but it is mo …
Nasal symptoms and respiratory distress usually start soon after birth, and by adulthood bronchiectasis is invariable. Organ laterality defe …
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW. Barber AT, et al. Ann Am Thorac Soc. 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. Ann Am Thorac Soc. 2023. PMID: 36342963 Free PMC article.
Results: Of 559 participants, 286 (51.2%), 215 (38.5%), and 58 (10.4%) were identified as having situs solitus, situs inversustotalis, and situs ambiguus, respectively; heterotaxy, defined as situs ambiguus with complex cardiovascular defects, was pres …
Results: Of 559 participants, 286 (51.2%), 215 (38.5%), and 58 (10.4%) were identified as having situs solitus, situs inversus …
Genetic factors contributing to human primary ciliary dyskinesia and male infertility.
Ji ZY, Sha YW, Ding L, Li P. Ji ZY, et al. Asian J Androl. 2017 Sep-Oct;19(5):515-520. doi: 10.4103/1008-682X.181227. Asian J Androl. 2017. PMID: 27270341 Free PMC article. Review.
Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive …
Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, o …
Clinical phenotypes of primary ciliary dyskinesia.
Lei C, Wang R, Yang D, Guo T, Luo H. Lei C, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 28;47(1):116-122. doi: 10.11817/j.issn.1672-7347.2022.210379. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 35545371 Free PMC article. Chinese, English.
About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. ...About 50% of patients with certain PCD-related gene variants are combined with situs inversus, …
About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital …
32 results