CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia
CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia
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DOI：
10.1183/23120541.00792-2020
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发表时间：
2021-01-01
影响因子：
4.6
通讯作者：
Lopes, Susana S.
中科院分区：
文献类型：
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作者：
Sampaio, Pedro;da Silva, Monica Ferro;Lopes, Susana S.
通过高速视频显微镜分析（HVMA）进行睫状体搏动频率（CBF）的评估是正确诊断原发性睫状体运动障碍（PCD）所需的技术之一。目前，由于缺乏开源软件，该技术广泛地通过在给定的时间窗口内视觉计数纤毛跳动来执行。我们的目标是生成用于评估CBF的开源，快速和直观的软件，在葡萄牙PCD患者和健康志愿者中进行验证。使用HVMA记录从17名成年健康志愿者和34名PCD参考受试者收集的鼻刷。通过两种不同的方法对CBF进行评价：新的半自动计算机软件CiliarMove和使用慢动作电影的手动观察方法。对患者组进行临床病史、鼻一氧化氮和透射电镜检查以诊断PCD。对8例疑似PCD患者进行遗传学分析，两种方法的相关系数为R-2=0.9895。25摄氏度时，健康对照组（n=17）获得的CBF值区间为6.18-9.17 Hz。在PCD排除组（n=16），CBF范围从6.84到10.93 Hz，在PCD组（n=18），CBF范围从0到14.30 Hz。我们提供了一个自动化的开源程序名为CiliarMove，在健康志愿者对照组，PCD排除组和PCD确认组的手动观察方法进行验证。在我们手中，仅比较CBF间期就可以在78%的病例中区分健康和PCD组。
Evaluation of ciliary beat frequency (CBF) performed by high-speed videomicroscopy analysis (HVMA) is one of the techniques required for the correct diagnosis of primary ciliary dyskinesia (PCD). Currently, due to lack of open-source software, this technique is widely performed by visually counting the ciliary beatings per a given time-window. Our aim was to generate open-source, fast and intuitive software for evaluating CBF, validated in Portuguese PCD patients and healthy volunteers.Nasal brushings collected from 17 adult healthy volunteers and 34 PCD-referred subjects were recorded using HVMA. Evaluation of CBF was compared by two different methodologies: the new semi-automated computer software CiliarMove and the manual observation method using slow-motion movies. Clinical history, nasal nitric oxide and transmission electron microscopy were performed for diagnosis of PCD in the patient group. Genetic analysis was performed in a subset (n=8) of suspected PCD patients.The correlation coefficient between the two methods was R-2=0.9895. The interval of CBF values obtained from the healthy control group (n=17) was 6.18-9.17 Hz at 25 degrees C. In the PCD-excluded group (n=16), CBF ranged from 6.84 to 10.93 Hz and in the PCD group (n=18), CBF ranged from 0 to 14.30 Hz.We offer an automated open-source programme named CiliarMove, validated by the manual observation method in a healthy volunteer control group, a PCD-excluded group and a PCD-confirmed group. In our hands, comparisons between CBF intervals alone could discern between healthy and PCD groups in 78% of the cases.