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Comparison of mental health in individuals with primary ciliary dyskinesia, cystic fibrosis, and parent caregivers.
Graziano S, Ullmann N, Rusciano R, Allegorico A, Boldrini F, Rosito L, Quittner AL, Cutrera R, Tabarini P. Graziano S, et al. Respir Med. 2023 Feb;207:107095. doi: 10.1016/j.rmed.2022.107095. Epub 2022 Dec 23. Respir Med. 2023. PMID: 36572068
INTRODUCTION: Individuals with chronic respiratory diseases and caregivers are at higher risk for depression and anxiety. Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are both rare genetic diseases, characterized by recurrent respiratory infectio …
INTRODUCTION: Individuals with chronic respiratory diseases and caregivers are at higher risk for depression and anxiety. Primary …
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL. Dell SD, et al. Ann Am Thorac Soc. 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. Ann Am Thorac Soc. 2016. PMID: 27464304 Free PMC article.
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatric patient-reported outcomes. ...Psychometric testing is underway to determine their measurement properties for evaluating clinical intervent …
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatri …
Primary ciliary dyskinesia: diagnostic and phenotypic features.
Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR. Noone PG, et al. Am J Respir Crit Care Med. 2004 Feb 15;169(4):459-67. doi: 10.1164/rccm.200303-365OC. Epub 2003 Dec 4. Am J Respir Crit Care Med. 2004. PMID: 14656747
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. ...Rigorous clinical and ciliary phenotyping and measures of nasal nitric oxide are useful for the diagnosis of PCD. ...
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/functi …
Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey.
Lam YT, Pedersen ESL, Schreck LD, Hüsler L, Koppe H, Belle FN, Clarenbach C, Latzin P; Swiss PCD research group; Kuehni CE, Goutaki M. Lam YT, et al. Swiss Med Wkly. 2022 Aug 18;152:w30221. doi: 10.4414/smw.2022.w30221. eCollection 2022 Aug 15. Swiss Med Wkly. 2022. PMID: 36041191 Free article.
CONCLUSIONS: Our study is the first to provide patient-reported data about physical activity, respiratory physiotherapy and nutrition among people with primary ciliary dyskinesia. Our results highlight that professional respiratory physiotherapy, exercise rec …
CONCLUSIONS: Our study is the first to provide patient-reported data about physical activity, respiratory physiotherapy and nutrition among …
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium; Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM. Hjeij R, et al. Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005. Am J Hum Genet. 2014. PMID: 25192045 Free PMC article.
In humans, defects in ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder of ciliary and flagellar dysmotility characterized by chronic upper and lower respiratory infections and defects in laterality. ...CCDC151 …
In humans, defects in ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder of …
Variation in treatment strategies for the eradication of Pseudomonas aeruginosa in primary ciliary dyskinesia across European centers.
Crowley S, Holgersen MG, Nielsen KG. Crowley S, et al. Chron Respir Dis. 2019 Jan-Dec;16:1479972318787919. doi: 10.1177/1479972318787919. Epub 2018 Jul 18. Chron Respir Dis. 2019. PMID: 30021461 Free PMC article.
Primary ciliary dyskinesia (PCD) is a rare disease causing motile cilia dysfunction, recurrent airway infection, and bronchiectasis. ...An online survey questionnaire was sent electronically using SurveyMonkey to 55 PCD centers in 36 European countries. Fifty …
Primary ciliary dyskinesia (PCD) is a rare disease causing motile cilia dysfunction, recurrent airway infection, and br …
Magnetic Resonance Imaging of Pulmonary and Paranasal Sinus Abnormalities in Children with Primary Ciliary Dyskinesia Compared to Children with Cystic Fibrosis.
Wucherpfennig L, Wuennemann F, Eichinger M, Schmitt N, Seitz A, Baumann I, Roehmel JF, Stahl M, Hämmerling S, Chung J, Schenk JP, Alrajab A, Kauczor HU, Mall MA, Wielpütz MO, Sommerburg O. Wucherpfennig L, et al. Ann Am Thorac Soc. 2024 Mar;21(3):438-448. doi: 10.1513/AnnalsATS.202305-453OC. Ann Am Thorac Soc. 2024. PMID: 38206973
Rationale: Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are characterized by inherited impaired mucociliary clearance leading to chronic progressive lung disease as well as chronic rhinosinusitis (CRS). ...
Rationale: Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are characterized by inherited impaired mucociliar …