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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 35"
Page 1
Movement.
Ferkol T. Ferkol T. Paediatr Respir Rev. 2017 Sep;24:19-20. doi: 10.1016/j.prrv.2017.06.005. Epub 2017 Jun 12. Paediatr Respir Rev. 2017. PMID: 28687245 Review.
Primary ciliary dyskinesia is an inherited disease characterized by impaired ciliary function leading to diverse clinical manifestations, including chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and infertility. ... …
Primary ciliary dyskinesia is an inherited disease characterized by impaired ciliary function leading to diverse …
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.
Pathogenic variants represented 91 genes implicated in hereditary cancer, X-linked intellectual disability, primary ciliary dyskinesia, Marfan syndrome/aortic aneurysms, cardiomyopathies and arrhythmias. ...For the remaining 42 pathogenic variants, the number …
Pathogenic variants represented 91 genes implicated in hereditary cancer, X-linked intellectual disability, primary ciliary …
Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team. Ringshausen FC, et al. Lancet Respir Med. 2024 Jan;12(1):21-33. doi: 10.1016/S2213-2600(23)00226-6. Epub 2023 Aug 31. Lancet Respir Med. 2024. PMID: 37660715 Clinical Trial.
BACKGROUND: Mucociliary clearance is dysfunctional in people with primary ciliary dyskinesia, resulting in the accumulation of dehydrated mucus in the airways that is difficult to clear. ...INTERPRETATION: In this phase 2 crossover study, idrevloride in hyper …
BACKGROUND: Mucociliary clearance is dysfunctional in people with primary ciliary dyskinesia, resulting in the accumula …
Intermittent prophylactic antibiotics for bronchiectasis.
Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P. Spencer S, et al. Cochrane Database Syst Rev. 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. Cochrane Database Syst Rev. 2022. PMID: 34985761 Free PMC article. Review.
We excluded studies where participants received high dose antibiotics immediately prior to enrolment or those with a diagnosis of cystic fibrosis, allergic bronchopulmonary aspergillosis (ABPA), primary ciliary dyskinesia, hypogammaglobulinaemia, sarcoidosis, …
We excluded studies where participants received high dose antibiotics immediately prior to enrolment or those with a diagnosis of cystic fib …
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C. Shoemark A, et al. Am J Respir Crit Care Med. 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC. Am J Respir Crit Care Med. 2017. PMID: 28199173 Free PMC article.
RATIONALE: The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely …
RATIONALE: The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of ass …
Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease.
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH. Bhatt JM, et al. Otolaryngol Head Neck Surg. 2019 Nov;161(5):877-880. doi: 10.1177/0194599819874842. Epub 2019 Sep 10. Otolaryngol Head Neck Surg. 2019. PMID: 31500503
OBJECTIVES: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by abnormal respiratory cilia ultrastructure and/or function causing defective mucociliary clearance. ...Nineteen (35%) subjects underwent operative intervention, consisti …
OBJECTIVES: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by abnormal respiratory cilia ultrastr …
Diagnostic approach to primary ciliary dyskinesia: a review.
Holzmann D, Ott PM, Felix H. Holzmann D, et al. Eur J Pediatr. 2000 Jan-Feb;159(1-2):95-8. doi: 10.1007/pl00013813. Eur J Pediatr. 2000. PMID: 10653339 Review.
Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired mucociliary transport leading to respiratory disorders, hearing impairment and male infertility. ...From the literature review and our findings we conclude that ciliary in …
Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired mucociliary transport leading to respiratory …
Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.
Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN. Günaydın RÖ, et al. Int J Pediatr Otorhinolaryngol. 2023 May;168:111520. doi: 10.1016/j.ijporl.2023.111520. Epub 2023 Mar 22. Int J Pediatr Otorhinolaryngol. 2023. PMID: 36990030
OBJECTIVES: Primary ciliary dyskinesia (PCD) is a genetic disease characterized by congenital impairment of mucociliary clearance causing recurrent respiratory tract infections. ...The most common ENT manifestation was otitis media with effusion (OME) (66.1%, …
OBJECTIVES: Primary ciliary dyskinesia (PCD) is a genetic disease characterized by congenital impairment of mucociliary …
Caregiver burden in children with cystic fibrosis and primary ciliary dyskinesia.
Keniş Coşkun Ö, Gençer Atalay K, Erdem E, Karadag-Saygi E, Gökdemir Y, Karadağ B. Keniş Coşkun Ö, et al. Pediatr Pulmonol. 2019 Dec;54(12):1936-1940. doi: 10.1002/ppul.24503. Epub 2019 Aug 29. Pediatr Pulmonol. 2019. PMID: 31468736
Cystic fibrosis (CF) causes significant caregiver burden, but the current data is scarce. In the case of primary ciliary dyskinesia (PCD), even less is known. This study aims to compare the caregiver burden of the parents of patients with CF and PCD. ...RESUL …
Cystic fibrosis (CF) causes significant caregiver burden, but the current data is scarce. In the case of primary ciliary dy …
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S. Sha Y, et al. J Hum Genet. 2020 Nov;65(11):961-969. doi: 10.1038/s10038-020-0790-2. Epub 2020 Jun 18. J Hum Genet. 2020. PMID: 32555313
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent respiratory infections, nasosinusitis, tympanitis, and/or male infertility, all of which can severely impair the patient's quality of life. ...(Asp1178Asn), of the CFAP74 ( …
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent respiratory infections, nasosinu …
54 results