Demetriou Zachary J, Muñiz-Hernández José, Rosario-Ortiz Gabriel, Quiñones Frances M, Gonzalez-Diaz Gabriel, Ramos-Benitez Marcos J, Mosquera Ricardo A, De Jesús-Rojas Wilfredo
Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA.
San Juan Bautista School of Medicine, Caguas, PR 00725, USA.
Diagnostics (Basel). 2024 Aug 20;14(16):1814. doi: 10.3390/diagnostics14161814.
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by alterations in motile cilia function. The diagnosis of PCD is challenging due to the lack of standardized methods in clinical practice. High-speed video microscopy analysis (HSVA) directly evaluates ciliary beat frequency (CBF) in PCD. Recently, open-source ciliary analysis software applications have shown promise in measuring CBF accurately. However, there is limited knowledge about the performance of different software applications, creating a gap in understanding their comparative effectiveness in measuring CBF in PCD. We compared two open-source software applications, CiliarMove (v219) and Cilialyzer (v1.2.1-b3098cb), against the manual count method. We used high-speed videos of nasal ciliary brush samples from PCD -positive (PCD ()) patients and healthy controls. All three methods showed lower median CBF values for patients with PCD () than in healthy controls. CiliarMove and Cilialyzer identified lower CBF in patients with PCD (), similarly to the manual count. Cilialyzer, CiliarMove, and manual count methods demonstrated statistical significance (-value < 0.0001) in the difference of median CBF values between patients with PCD () and healthy controls. Correlation coefficients between the manual count values against both software methods demonstrated positive linear relationships. These findings support the utility of open-source software-based analysis tools. Further studies are needed to validate these findings with other genetic variants and identify the optimal software for accurate CBF measurement in patients with PCD.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，其特征为运动性纤毛功能改变。由于临床实践中缺乏标准化方法，PCD的诊断具有挑战性。高速视频显微镜分析（HSVA）可直接评估PCD中的纤毛摆动频率（CBF）。最近，开源纤毛分析软件应用程序在准确测量CBF方面显示出前景。然而，关于不同软件应用程序性能的了解有限，这在理解它们在测量PCD中CBF的比较有效性方面存在差距。我们将两款开源软件应用程序CiliarMove（v219）和Cilialyzer（v1.2.1 - b3098cb）与手动计数方法进行了比较。我们使用了来自PCD阳性（PCD（））患者和健康对照的鼻纤毛刷样本的高速视频。所有三种方法显示，PCD（）患者的CBF中值低于健康对照。CiliarMove和Cilialyzer识别出PCD（）患者的CBF较低，与手动计数相似。Cilialyzer、CiliarMove和手动计数方法在PCD（）患者和健康对照之间的CBF中值差异方面显示出统计学意义（-值<0.0001）。手动计数值与两种软件方法之间的相关系数显示出正线性关系。这些发现支持了基于开源软件的分析工具的实用性。需要进一步研究以用其他基因变异验证这些发现，并确定用于准确测量PCD患者CBF的最佳软件。
