Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by alterations in motile cilia func-tion. 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. How-ever, 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 and Cilialyzer, against the manual count method. We used videos rec-orded at high-speed of nasal ciliary brush samples from PCD patients and healthy controls. All three meth-ods showed lower median CBF values in PCD patients than healthy controls. CiliarMove and Cilialyzer identified lower CBF in PCD patients, similar to the manual count. Cilialyzer, CiliarMove and manual count demonstrated statistical significance (p-value < 0.0001) in the difference of median CBF values be-tween PCD and healthy controls. 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 op-timal software for accurate CBF measurement in PCD.

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 RSPH4A-positive (PCD (RSPH4A)) patients and healthy controls. All three methods showed lower median CBF values for patients with PCD (RSPH4A) than in healthy controls. CiliarMove and Cilialyzer identified lower CBF in patients with PCD (RSPH4A), similarly to the manual count. Cilialyzer, CiliarMove, and manual count methods demonstrated statistical significance (p-value < 0.0001) in the difference of median CBF values between patients with PCD (RSPH4A) 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.

Case: An 88-year-old woman presented with worsening right hip pain over 2 years. Radiographs were unremarkable, but magnetic resonance imaging identified a femoral neck lesion. A computed tomography–guided biopsy revealed a zellballen pattern of cells positive for chromogranin and synaptophysin. Further workup, including a metaiodobenzylguanidine scan confirmed focal uptake at the right femoral neck. After multidisciplinary discussion, and shared decision-making with the patient, conservative management was chosen. Conclusion: Primary intraosseous paragangliomas are rare, with this case representing only the second reported in femur and third in the appendicular skeleton. It underscores the importance of a multimodal diagnostic approach, individualized treatment plans, and multidisciplinary collaboration.

Background: Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by impaired mucociliary clearance, resulting in chronic respiratory complications. While exercise benefits respiratory health, its impacts on PCD remain understudied. Objective: The objective of this study was to assess how moderate aerobic exercise influences FEV1, SpO2, and nNO levels in PCD patients, with a focus on short-term post-exercise changes. Methods: This is a matched case-control pilot study involving 12 PCD patients homozygous for the RSPH4A (c.921+3_921+6del) mutation and 12 healthy controls (HC). Baseline FEV1, SpO2, and nNO levels were measured before participants underwent a six-minute exercise challenge test (ECT) on a stationary bicycle. Post-exercise measurements included FEV1 at 5, 10, 15, and 20 minutes, nNO after final spirometry, and SpO2 at 5 minutes. Results: The PCD group experienced a significant increase in SpO2 from 95.5% ± 2.1 to 97.7% ± 1.5 post-exercise (p < 0.05), while the HC group had stable SpO2 levels with a minor increase from 97.9% ± 1.5 to 98.9% ± 1.4 (p = 0.14). No significant changes in FEV1 or nNO levels were observed post-exercise in either group. One HC participant exhibited exercise-induced bronchoconstriction. Conclusion: Aerobic exercise improves oxygenation in PCD patients without adverse effects on pulmonary function or nNO levels. Further research is necessary due to the small sample size and genetic homogeneity to confirm these findings and evaluate long-term outcomes. Moreover, this pilot study highlights the safety and potential respiratory benefits of aerobic exercise in PCD patients, supporting further investigation into its role in clinical management.