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Table 3 Results of functional and ultrastructural evalution before and after cell culture

From: Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

   Normal values Normal ultrastructure (n = 68) Dynein deficiency (n = 90) Central pair abnormalities (n = 41) p-value for comparison between 3 groups
    Before After Before After Before After Before After
SAMPLE QUALITIY No cilia found          
  - For functional evaluation   30 (44%) 0  36 (40%) 0 15 (37%) 0 0.782 NA
  - for TEM   22 (32%) 0 27 (30%) 0 13 (32%) 0 0.948 NA
  Number of cilia counted for TEM   82 (45–114) 85 (59–132) 0.236 92 (58–160) 84 (49–129) 0.839 70 (52–126) 95 (61–125) 0.194 0.490 0.620
  Total SCD (%) <5% 10 (5–22) 1 (0–4) 0.0001 13 (7–21) 1 (0–4) 0.0001 52 (31–70)* 52 (27–68)* 0.612 0.0001 0.0001
SPECIFIC MEASUREMENTS CBF (Hz) (median-IQR) 7.9 (1.8) (mean, SD) 5.8 (0–9.6) 0 (0–6.3) 0.001 0 (0–0)* 0 (0–0)* 0.674 5 (0–6.9) 4.4 (0–5.6) 0.170 0.0001 0.0001
  N(%) of patients with normal CBF   18 (27%) 19 (28%) 4 (4%)* 11 (12%)* 14 (34%) 21 (51%) 0.0001 0.0001
  N(%) of patients with Normal coordination   17 (25%) 0 2 (2%)* 0 8 (20%) 0 0.0001 NA
  N(%) of patients with normal CBF and coordination   11 (16.2%) 0 1 (1.1%)* 0 6 (14.6%) 0 0.002 NA
  N of ODA (median-IQR) 8.4 (0.8) (mean, SD) 8.3 (7.8–8.6) 8.4 (7.9–8.7) 0.238 2.3 (1.35–4.1)* 2.4 (1.4–4.6)* 0.233 8.6 (8.3–8.9) 8.6 (8.3–8.7) 0.221 0.0001 0.0001
  N of IDA (median-IQR) 3.7 (1.4) (mean, SD) 3.2 (2.7–3.7)* 2.7 (2.3–3)* 0.001 2.9 (2.4–3.5) 2.1 (1.7–2.6) 0.0001 3.0 (1.3–3.6) 2.3 (1.1–2.7) 0.0001 0.036 0.0001
  1. Legend: Sample specifications and results of functional (CBF and coordination of ciliary activity) and structural evaluation of the cilia before and after cell culture in the 3 subgroups. Normal values are reported in the first column, based on our own laboratory references [18, 32], and updated with more recent data. Each subsequent column represents a subgroup of PCD and each column is subdivided in a first column for evaluation before cell culture (= in the biopsy) and a second column after cell culture. Individual results were compared before and after ciliogenesis (Wilcoxon signed rank test), and the result of these comparisons is marked in italic. Comparison between the 3 PCD subgroups (Kruskal-Wallis or χ2 test) is presented in the last table. If the comparison revealed a significant result, pairwise comparisons were performed and the significant outlier was identified and marked with *.
  2. CBF, ciliary beat frequency.
  3. IDA, inner dynein arm.
  4. IQR, inter quartile range.
  5. NA, not appropriate.
  6. NU, normal ultrastructure.
  7. ODA, outer dynein arm.
  8. PCD, primary ciliary dyskinesia.
  9. SCD, secondary ciliary dyskinesia.
  10. SD, standard deviation.
  11. TEM, transmission electron microscopy.