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Assessment of Ciliary Beat Pattern: Variability in Healthy Control Subjects Has Implications for Use as Test for Primary Ciliary Dyskinesia

机译:纤毛跳动模式的评估:健康对照受试者的变异性具有作为原发性纤毛运动障碍测试的意义

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FOR RELATED ARTICLE SEE PAGE 993Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of ciliary biogenesis, structure, and function. Diagnosis can be challenging. Several diagnostic tests have been used, including assessment of ciliary beat pattern by high-speed videomicroscopy, ciliary ultrastructure by transmission electron microscopy, nasal?nitric oxide measurement, and, more recently, immunofluorescence testing using a panel of antibodies and genetic testing using a panel of PCD-associated genes. All of these tests require specialized equipment and expertise for interpretation and none of these tests has the accuracy needed for a “stand?alone” diagnostic test.Consensus statements focused on diagnosis and management of PCD have been published by the European Respiratory Society (ERS) task force in 2009
机译:有关相关文章,请参见第993页。初级睫状运动障碍(PCD)是睫状生物发生,结构和功能的遗传异质性疾病。诊断可能具有挑战性。已经使用了几种诊断测试,包括通过高速视频显微镜评估睫状节律模式,通过透射电子显微镜评估睫状超微结构,一氧化二氮测定,以及最近使用一组抗体进行的免疫荧光检测和使用一组遗传检测与PCD相关的基因。所有这些测试都需要专门的设备和专业知识来进行解释,并且这些测试都没有“独立”诊断测试所需的准确性。欧洲呼吸学会(ERS)发表了有关PCD诊断和管理的共识声明。 2009年工作队

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