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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
Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. ...It is likely that evidence-based PCD-specific management guidelines and therapies will be developed in the near future. This article examines prevalence, clinical features, di …
Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. ...It is likely that evidence-based PCD-speci …
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.
Rationale: The association between organ laterality abnormalities and ciliary ultrastructural defect or genotype in primary ciliary dyskinesia is poorly understood. ...Conclusion: In primary ciliary dyskinesia, risk of a laterality …
Rationale: The association between organ laterality abnormalities and ciliary ultrastructural defect or genotype in primary …
Primary ciliary dyskinesia: A multicenter survey on clinical practice and patient management in Italy.
Ullmann N, Santamaria F, Allegorico A, Fainardi V, Borrelli M, Ferraro VA, Proietti E, Parisi GF, Romagnoli V, Lucca F, Gallucci M, Mappa L, Lelli M, Amato D, Petrarca L, Cimino G, Sacco O, Calogero C, Patria MF, Acquafredda A, Ferlisi A, Maschio M, Kantar A, Cutrera R. Ullmann N, et al. Pediatr Pulmonol. 2023 Apr;58(4):1127-1135. doi: 10.1002/ppul.26303. Epub 2023 Jan 9. Pediatr Pulmonol. 2023. PMID: 36588099
INTRODUCTION: There are no recent data on primary ciliary dyskinesia (PCD) distribution, diagnosis and treatment in Italy. ...Nasal nitric oxide, transmission electron microscopy and ciliary high-speed video microscopy are performed in 75%, 90%, and 40 …
INTRODUCTION: There are no recent data on primary ciliary dyskinesia (PCD) distribution, diagnosis and treatment in Ita …
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.
Oh J, Lee JS, Park MS, Kang YA, Cho HJ, Kim SY, Jung J, Yoon SO, Kim KW. Oh J, et al. Yonsei Med J. 2024 Jan;65(1):48-54. doi: 10.3349/ymj.2023.0238. Yonsei Med J. 2024. PMID: 38154480 Free PMC article.
PURPOSE: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population. MATERIALS AND METHODS: Forty-seven patients clinically suspected o …
PURPOSE: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of pri …
Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.
Gatt D, Shaw M, Waters V, Kritzinger F, Solomon M, Dell S, Ratjen F. Gatt D, et al. Pediatr Pulmonol. 2023 Oct;58(10):2857-2864. doi: 10.1002/ppul.26599. Epub 2023 Jul 14. Pediatr Pulmonol. 2023. PMID: 37449771
INTRODUCTION: Pulmonary exacerbation (Pex) are common in pediatric primary ciliary dyskinesia (PCD), however changes in forced expiratory volume in 1 s precent predicted (FEV1pp) during Pex are not well described. ...Lower BMI was associated with nonresponse …
INTRODUCTION: Pulmonary exacerbation (Pex) are common in pediatric primary ciliary dyskinesia (PCD), however changes in …
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.
Lei C, Yang D, Wang R, Ding S, Wang L, Guo T, Luo H. Lei C, et al. J Hum Genet. 2022 Apr;67(4):197-201. doi: 10.1038/s10038-021-00985-z. Epub 2021 Nov 24. J Hum Genet. 2022. PMID: 34815526
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a heterogeneous disease characterized by the failure of mucociliary clearance. ...High-speed video microscopy analysis (HSVA) was used to measure the nasal ciliary beating frequency and pattern in a patien …
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a heterogeneous disease characterized by the failure of mucociliary clea …
Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.
Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF. Goutaki M, et al. JAMA Otolaryngol Head Neck Surg. 2023 Jul 1;149(7):587-596. doi: 10.1001/jamaoto.2023.0841. JAMA Otolaryngol Head Neck Surg. 2023. PMID: 37166807 Free PMC article.
IMPORTANCE: Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity. ...RESULTS: A total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 [0.2-72 …
IMPORTANCE: Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about it …
Primary ciliary dyskinesia: diagnosis and standards of care.
Bush A, Cole P, Hariri M, Mackay I, Phillips G, O'Callaghan C, Wilson R, Warner JO. Bush A, et al. Eur Respir J. 1998 Oct;12(4):982-8. doi: 10.1183/09031936.98.12040982. Eur Respir J. 1998. PMID: 9817179 Free article. Review.
Primary ciliary dyskinesia (PCD) is characterized by disease of the upper and lower respiratory tract, in association with visceral mirror image arrangement in 50% of cases, due to abnormal structure and/or function of cilia. ...It is important not to confuse …
Primary ciliary dyskinesia (PCD) is characterized by disease of the upper and lower respiratory tract, in association w …
Fertility care among people with primary ciliary dyskinesia.
Schreck LD, Goutaki M, Jörger P, Dexter K, Manion M, Christin-Maitre S, Maitre B; COVID-PCD Patient Advisory Group; Kuehni CE, Pedersen ESL. Schreck LD, et al. Pediatr Pulmonol. 2024 Feb;59(2):281-290. doi: 10.1002/ppul.26743. Epub 2023 Nov 7. Pediatr Pulmonol. 2024. PMID: 37933800
INTRODUCTION: Fertility care is important for people living with primary ciliary dyskinesia (PCD) who are at increased risk of fertility problems. ...CONCLUSION: People with PCD are inconsistently referred to fertility specialists. We recommend care …
INTRODUCTION: Fertility care is important for people living with primary ciliary dyskinesia (PCD) who are at inc …
Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis.
Wijers CD, Chmiel JF, Gaston BM. Wijers CD, et al. Chron Respir Dis. 2017 Nov;14(4):392-406. doi: 10.1177/1479972317694621. Epub 2017 Mar 6. Chron Respir Dis. 2017. PMID: 29081265 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder associated with severely impaired mucociliary clearance caused by defects in ciliary structure and function. ...Further, we will discuss current and potential future treatment strategi …
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder associated with severely impaired mucociliary clear …
52 results