Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by impaired ciliary function that leads to an array of clinical manifestations including chronic bronchitis, chronic sinusitis, chronic otitis media, situs inversus (in ~50% of cases), and infertility. The underlying genetic and...
Primary Ciliary DyskinesiaJason Lobo, MD [Assistant Professor of Medicine], Maimoona A Zariwala, PhD [Associate Professor of Medicine and Laboratory Medicine], and Peadar G Noone, MD, FCCP, FRCPI [Professor of Medicine]The Division of Pulmonary Diseases, University of North Carolina Chapel Hill,...
Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting ciliary function. Genes coding for various ciliary structural proteins or cytoplasmic proteins responsible for the assembly of cilia can be mutated resulting in abnormal ciliary function. However, despite the diversity of ...
Primary ciliary dyskinesia.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. Making a definitive diagnosis is challenging, utilizing characteristic ...
Abnormal ciliary beat pattern Immunofluorescence testing of ciliary proteins Absent fluorescence of ciliary proteins in specific axonemal components NGS = next generation sequencing; nNO = nasal nitric oxide; PCD = primary ciliary dyskinesia; TEM = transmission electron microscopy; VUS = variant of uncer...
Primary ciliary dyskinesia is a genetic disorder causing dysfunctional motility of cilia and impaired mucociliary clearance, resulting in a myriad of clini
PrimaryCiliaryDyskinesiaJasonLobo,MD[AssistantProfessorofMedicine],MaimoonaAZariwala,PhD[AssociateProfessorofMedicineandLaboratoryMedicine],an..
ciliary (redirected fromPrimary ciliary dyskinesia) Thesaurus Medical Acronyms Encyclopedia Wikipedia cil·i·ar·y (sĭl′ē-ĕr′ē) adj. 1.Of, relating to, or resembling cilia. 2.Of or relating to the ciliary body and associated structures of the eye. ...
He had no immunodeficiency, allergies, cystic fibrosis and others. We concluded primary ciliary dyskinesia with heterotaxy. For the rarity of this case we decided to present it. 展开 关键词: Primary ciliary dyskinesia heterotaxy DOI: 10.1016/s0873-2159(15)30116-1 被引量: 2 年份: 2009 ...
Siewert first described the combination of situs inversus, chronic sinusitis, and bronchiectasis in 1904. However, Manes Kartagener first recognized this clinical triad as a distinct congenital syndrome in 1933.