Figures
- Fig. 1—
Representative images of the ultrastructure of respiratory cilia. a) Cross-section of normal cilia showing the “9+2” microtubule doublet configuration with presence of dynein arms. b) Absence of outer dynein arms. c) Absence of both dynein arms. d) Absence of outer dynein arms and questionable inner dynein arms. e) Absence of inner dynein arms. f) Absence of inner dynein arms and axonemal disorganisation. g) Questionable inner dynein arms. h) Absence of central microtubules. Magnification ×60,000.
Tables
- Table 1—
Transmission electron microscopy(TEM) feasibility in 1,450 samples according to the age group, site of biopsy, children’s age range and year of diagnostic test
Analysis of ciliary ultrastructure by TEM Feasible Unfeasible Total Age group Child samples 562 (58.5) 403 (41.5) 965 Adult samples 424 (87.4)* 61 (12.6) 485 Site of biopsy Nose 458 (72)# 178 (28) 636 Bronchus 528 (64.8) 286 (35.2) 814 Children's age range yrs 0–4 180 (54) 153 (46) 333 5–9 177 (53) 159 (47) 336 10–17 205 (69)* 91 (31) 296 Year of diagnostic test 1985–1989 230 (72) 91 (28) 321 1990–1994 172 (63) 101 (37) 273 1995–1999 294 (69) 132 (31) 426 2000–2006 290 (67) 140 (33) 430 Data are presented as n (%) or n. #: the significant difference disappeared after adjustment for age of patients. *: p<0.05.
- Table 2—
Characteristics of the groups as defined by ciliary ultrastructure in the 820 patients with feasible transmission electron microscopy analysis
Groups p-value I II III IV Normal Heterogeneous defects Main defect Questionable ultrastructure Patients 533 (65) 15 (1.8) 245 (29) 27 (3.3) Abnormal cilia % Median 5 28.5 100# ND <0.0001 IQR 2–10 25–34 51–100 ND Range 0–20 21–42 20.5–100 ND Sex ratio F/M 0.68 0.36 0.78 0.8 ns Children/adults ratio 1.09 0.87 2.06# 1.7 <0.001 Situs inversus 28 (5.2) 1 (6.7) 78 (31.8)# 2 (7.4) <0.0001 Airway infections Isolated upper 239 (44.8) 6 (40) 1 (0.4) 4 (14.8) Isolated lower 241 (45.2) 7 (46.7) 1 (0.4) 5 (18.5) Sinopulmonary 53 (10) 2 (13.3) 243 (99.2)¶ 18 (66.7)¶ <0.001 Data are presented as n (%), unless otherwise indicated. IQR: interquartile range; F/M: female/male; ND: not determined; ns: nonsignificant. p-values are for global comparison between the four groups; if p<0.05, two-by-two comparisons were performed. #: indicates that only this group was significantly different from the other groups; ¶: indicates that the two groups were not different from each other but were significantly different from the other two groups.
- Table 3—
Phenotypic features according to the main ciliary defects as defined by transmission electron microscopy(group III, n = 245)
Main ultrastructural defect p-value ODA IDA CC Patients n 159 40 46 Associated defects IDA Normal 81 Defect 56 Questionable 22 Radial spoke Normal 9 Defect 31 Abnormal cilia % Median 100# 100# 37 <0.0001 IQR 78–100 100–100 26.7–60.2 Range 21–100 30–100 20.5–85 Sex ratio F/M 0.91 0.66 0.65 ns Children/adults ratio 2.74 3 2.83 ns Situs inversus 65 (40.9)¶ 13 (32.5) 0 (0)¶ <0.001 Patients with 100% abnormal cilia 110 (69.2) 32 (80) 0 (0)+ <0.001 Data are presented as n (%), unless otherwise indicated. ODA: outer dynein arm; IDA: inner dynein arm; CC: central complex; IQR: interquartile range; F/M: female/male; ns: nonsignificant. p-values are for global comparison between the four groups; if p<0.05, two-by-two comparisons were performed. #: indicates that the two groups were not different from each other but were significantly different from the other two groups; ¶: indicates that the two groups were different from each other and were also significantly different from the other two groups; +: indicates that only this group was significantly different from the other groups.
