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Page 1
Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries.
Rumman N, Jackson C, Collins S, Goggin P, Coles J, Lucas JS. Rumman N, et al. Eur Respir Rev. 2017 Jan 17;26(143):160058. doi: 10.1183/16000617.0058-2016. Print 2017 Jan. Eur Respir Rev. 2017. PMID: 28096286 Free PMC article. Review.
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the …
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respirato …
The patient's experience of primary ciliary dyskinesia: a systematic review.
Behan L, Rubbo B, Lucas JS, Dunn Galvin A. Behan L, et al. Qual Life Res. 2017 Sep;26(9):2265-2285. doi: 10.1007/s11136-017-1564-y. Epub 2017 Mar 30. Qual Life Res. 2017. PMID: 28361274 Free PMC article. Review.
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. The aim of this study is to critically review, analyse, and synthesise the literature in order …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary dise …
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis.
Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V. Shapiro AJ, et al. Ann Am Thorac Soc. 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR. Ann Am Thorac Soc. 2017. PMID: 28481653 Free PMC article. Review.
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare disorder causing chronic otosinopulmonary disease, generally diagnosed through evaluation of respiratory ciliary ultrastructure and/or genetic testing. ...OBJECTIVES: To perform a systematic review …
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare disorder causing chronic otosinopulmonary disease, generally diag …
Clinical care for primary ciliary dyskinesia: current challenges and future directions.
Rubbo B, Lucas JS. Rubbo B, et al. Eur Respir Rev. 2017 Sep 6;26(145):170023. doi: 10.1183/16000617.0023-2017. Print 2017 Sep 30. Eur Respir Rev. 2017. PMID: 28877972 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. ...
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impair …
Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.
Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI. Kouis P, et al. Pediatr Res. 2017 Mar;81(3):398-405. doi: 10.1038/pr.2016.263. Epub 2016 Dec 9. Pediatr Res. 2017. PMID: 27935903 Review.
Diagnostic testing for primary ciliary dyskinesia (PCD) usually includes transmission electron microscopy (TEM), nasal nitric oxide, high-speed video microscopy, and genetics. ...Among PCD patients, a significant percentage, at least as high as 26%, is …
Diagnostic testing for primary ciliary dyskinesia (PCD) usually includes transmission electron microscopy (TEM), nasal …
A review of the etiology and clinical presentation of non-cystic fibrosis bronchiectasis: A tertiary care experience.
Satırer O, Mete Yesil A, Emiralioglu N, Tugcu GD, Yalcın E, Dogru D, Kiper N, Ozcelik U. Satırer O, et al. Respir Med. 2018 Apr;137:35-39. doi: 10.1016/j.rmed.2018.02.013. Epub 2018 Feb 24. Respir Med. 2018. PMID: 29605210 Free article. Review.
Early childhood pneumonia and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(PCD), and congenital lung pathology should be considered in the etiology. ...Through clinical investigation, including a HRCT scan of the chest, sweat tes …
Early childhood pneumonia and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(PCD), and cong …
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
Gascue C, Katsanis N, Badano JL. Gascue C, et al. Pediatr Nephrol. 2011 Aug;26(8):1181-95. doi: 10.1007/s00467-010-1697-5. Epub 2010 Nov 27. Pediatr Nephrol. 2011. PMID: 21113628 Free PMC article. Review.
Ciliary dysfunction has emerged as a common factor underlying the pathogenesis of both syndromic and isolated kidney cystic disease, an observation that has contributed to the unification of human genetic disorders of the cilium, the ciliopathies. Such grouping is u …
Ciliary dysfunction has emerged as a common factor underlying the pathogenesis of both syndromic and isolated kidney cystic disease, …
Ciliopathies: an expanding disease spectrum.
Waters AM, Beales PL. Waters AM, et al. Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Epub 2011 Jan 6. Pediatr Nephrol. 2011. PMID: 21210154 Free PMC article. Review.
However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated with this constellation of clinical features will likely be ascribed to mutations in other ciliary genes. ...Utilisation of conditional …
However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated wit …
[Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review].
Audifred-Salomón J, Barrita-Domínguez I J, Ortiz de ZA, Sánchez-Hernández H, Camacho-Cervantes A. Audifred-Salomón J, et al. Ginecol Obstet Mex. 2016 Feb;84(2):105-11. Ginecol Obstet Mex. 2016. PMID: 27290837 Review. Spanish.
On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is observed winding mean; not cut down, cavum septum pe …
On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumferen …