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Page 1
Primary ciliary dyskinesia.
Lobo LJ, Zariwala MA, Noone PG. Lobo LJ, et al. QJM. 2014 Sep;107(9):691-9. doi: 10.1093/qjmed/hcu063. Epub 2014 Mar 19. QJM. 2014. PMID: 24652656 Review.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure and function, leading to chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. ...There are 21 known PCD causing …
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure and function, leading to chronic …
[Primary ciliary dyskinesia: a retrospective review of clinical and paraclinical data].
Beucher J, Chambellan A, Segalen J, Deneuville E. Beucher J, et al. Rev Mal Respir. 2011 Sep;28(7):856-63. doi: 10.1016/j.rmr.2011.02.014. Epub 2011 Sep 3. Rev Mal Respir. 2011. PMID: 21943530 Review. French.
INTRODUCTION: Primary ciliary dyskinesia (PCD) is an inherited disease responsible for a disruption of normal ciliary function. ...These subjects had defects in ciliary structure, 59% in the dynein arms, 35% in the central complex and 6% having …
INTRODUCTION: Primary ciliary dyskinesia (PCD) is an inherited disease responsible for a disruption of normal ciliar …
Primary ciliary dyskinesia: improving the diagnostic approach.
Leigh MW, Zariwala MA, Knowles MR. Leigh MW, et al. Curr Opin Pediatr. 2009 Jun;21(3):320-5. doi: 10.1097/MOP.0b013e328329cddb. Curr Opin Pediatr. 2009. PMID: 19300264 Free PMC article. Review.
PURPOSE OF REVIEW: The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of ciliary motility and ultrastructure; however, these tests are not readily available and have not been standardized. ...This review outlines the potent …
PURPOSE OF REVIEW: The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of ciliary motili …
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 …
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J. Dąbkowska S, et al. Prenat Diagn. 2020 Apr;40(5):612-617. doi: 10.1002/pd.5654. Epub 2020 Feb 12. Prenat Diagn. 2020. PMID: 32003477 Review.
Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). ...
Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic vari …
Teratozoospermia: spotlight on the main genetic actors in the human.
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF. Coutton C, et al. Hum Reprod Update. 2015 Jul-Aug;21(4):455-85. doi: 10.1093/humupd/dmv020. Epub 2015 Apr 17. Hum Reprod Update. 2015. PMID: 25888788 Review.
Moreover, the identification of mutations in a dynein strengthens the emerging point of view that MMAF may be a phenotypic variation of the classical forms of primary ciliary dyskinesia. Based on data from human and animal models, the MMAF phenotype seems to …
Moreover, the identification of mutations in a dynein strengthens the emerging point of view that MMAF may be a phenotypic variation of the …
The roles of cilia in developmental disorders and disease.
Bisgrove BW, Yost HJ. Bisgrove BW, et al. Development. 2006 Nov;133(21):4131-43. doi: 10.1242/dev.02595. Epub 2006 Oct 4. Development. 2006. PMID: 17021045 Review.
Cilia are highly conserved organelles that have diverse motility and sensory functions. Recent discoveries have revealed that cilia also have crucial roles in cell signaling pathways and in maintaining cellular homeostasis. ...
Cilia are highly conserved organelles that have diverse motility and sensory functions. Recent discoveries have revealed that cilia a …
The etiologies of non-CF bronchiectasis in childhood: a systematic review of 989 subjects.
Brower KS, Del Vecchio MT, Aronoff SC. Brower KS, et al. BMC Pediatr. 2014 Dec 10;14:4. doi: 10.1186/s12887-014-0299-y. BMC Pediatr. 2014. PMID: 25492164 Free PMC article. Review.
Sixty-three percent of the subjects had an underlying disorder. Infectious (17%), primary immunodeficiency (16%), aspiration (10%), ciliary dyskinesia (9%), congenital malformation (3%), and secondary immunodeficiency (3%) were the most common disease categor …
Sixty-three percent of the subjects had an underlying disorder. Infectious (17%), primary immunodeficiency (16%), aspiration (10%), …
[Molecular basis of the primary ciliary dyskinesias].
Moore A, Amselem S, Duriez B, Escudier E. Moore A, et al. Rev Mal Respir. 2004 Jun;21(3 Pt 1):521-6. doi: 10.1016/s0761-8425(04)71356-x. Rev Mal Respir. 2004. PMID: 15292844 Review. French.
INTRODUCTION: The primary ciliary dyskinesias (PCD) are rare diseases characterised by infection of the airways due to impaired muco-ciliary clearance. Half the patients have situs inversus making up Kartagener's syndrome. STATE OF THE ART: Primary cil …
INTRODUCTION: The primary ciliary dyskinesias (PCD) are rare diseases characterised by infection of the airways due to impaire …
Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.
Wang L, Zhao X, Liang H, Zhang L, Li C, Li D, Meng X, Meng F, Gao M. Wang L, et al. BMC Pulm Med. 2021 Aug 14;21(1):263. doi: 10.1186/s12890-021-01586-4. BMC Pulm Med. 2021. PMID: 34391405 Free PMC article. Review.
BACKGROUND: Kartagener syndrome is a subtype of primary ciliary dyskinesia that may exhibit various symptoms including neonatal respiratory distress and frequent infections of the lung, sinus and middle ear because of the impaired function of motile cilia. In …
BACKGROUND: Kartagener syndrome is a subtype of primary ciliary dyskinesia that may exhibit various symptoms including …
15 results