genes primary ciliary dyskinesia
MHJ
2021-09-30
Table 1 Demographic
| Overall (N=96) |
|
|---|---|
| Sex | |
| Female | 40 (41.7%) |
| Male | 56 (58.3%) |
| Height (m) | |
| Mean (SD) | 1.57 (0.206) |
| Median [Min, Max] | 1.62 [0.910, 1.90] |
| Missing | 14 (14.6%) |
| Weight (kg) | |
| Mean (SD) | 56.7 (18.9) |
| Median [Min, Max] | 58.0 [12.1, 88.0] |
| Missing | 15 (15.6%) |
| Body Mass Index | |
| Mean (SD) | 22.2 (4.91) |
| Median [Min, Max] | 22.1 [13.6, 34.8] |
| Missing | 15 (15.6%) |
| City | |
| Campinas | 40 (41.7%) |
| Natal | 5 (5.2%) |
| Porto Alegre | 3 (3.1%) |
| São Paulo | 48 (50.0%) |
Table PCD Score
| Female (N=40) |
Male (N=56) |
Overall (N=96) |
|
|---|---|---|---|
| Unexplained neonatal respiratory distress | |||
| No | 24 (60.0%) | 31 (55.4%) | 55 (57.3%) |
| Yes | 16 (40.0%) | 24 (42.9%) | 40 (41.7%) |
| Missing | 0 (0%) | 1 (1.8%) | 1 (1.0%) |
| Early-onset, year-round wet cough | |||
| Yes | 40 (100%) | 54 (96.4%) | 94 (97.9%) |
| No | 0 (0%) | 2 (3.6%) | 2 (2.1%) |
| Early-onset, year-round nasal congestion | |||
| No | 3 (7.5%) | 3 (5.4%) | 6 (6.3%) |
| Yes | 37 (92.5%) | 53 (94.6%) | 90 (93.8%) |
| Laterality Defect | |||
| No | 15 (37.5%) | 30 (53.6%) | 45 (46.9%) |
| Yes | 25 (62.5%) | 26 (46.4%) | 51 (53.1%) |
| PCD Score | |||
| Mean (SD) | 2.95 (0.846) | 2.80 (0.796) | 2.86 (0.816) |
| Median [Min, Max] | 3.00 [1.00, 4.00] | 3.00 [1.00, 4.00] | 3.00 [1.00, 4.00] |
Table PICADAR Score
| Female (N=40) |
Male (N=56) |
Overall (N=96) |
|
|---|---|---|---|
| Full Term | |||
| No | 1 (2.5%) | 6 (10.7%) | 7 (7.3%) |
| Yes | 39 (97.5%) | 49 (87.5%) | 88 (91.7%) |
| Missing | 0 (0%) | 1 (1.8%) | 1 (1.0%) |
| Chest Symptoms in the neonatal period | |||
| No | 18 (45.0%) | 28 (50.0%) | 46 (47.9%) |
| Yes | 22 (55.0%) | 28 (50.0%) | 50 (52.1%) |
| Admitted to a Neonatal Unit | |||
| No | 32 (80.0%) | 42 (75.0%) | 74 (77.1%) |
| Yes | 8 (20.0%) | 14 (25.0%) | 22 (22.9%) |
| Situs Abnormality | |||
| No | 16 (40.0%) | 29 (51.8%) | 45 (46.9%) |
| Yes | 24 (60.0%) | 27 (48.2%) | 51 (53.1%) |
| Congenital Heart Defect | |||
| No | 36 (90.0%) | 52 (92.9%) | 88 (91.7%) |
| Yes | 4 (10.0%) | 4 (7.1%) | 8 (8.3%) |
| Persistent Perennial Rhinitis | |||
| No | 2 (5.0%) | 7 (12.5%) | 9 (9.4%) |
| Yes | 38 (95.0%) | 49 (87.5%) | 87 (90.6%) |
| Chronic Ear Symptoms | |||
| No | 14 (35.0%) | 23 (41.1%) | 37 (38.5%) |
| Yes | 26 (65.0%) | 32 (57.1%) | 58 (60.4%) |
| Missing | 0 (0%) | 1 (1.8%) | 1 (1.0%) |
| PICADAR Score | |||
| Mean (SD) | 7.70 (3.07) | 6.75 (2.66) | 7.15 (2.86) |
| Median [Min, Max] | 8.00 [1.00, 14.0] | 7.00 [1.00, 13.0] | 7.00 [1.00, 14.0] |
Figure 1. Histogram of PCD Scores (n=96)
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Figure 2. Histogram of Picadar Score (n=96)
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Figure 3A. Genes with biallelic pathogenic mutations in the sample
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Figure 3B. Genes with biallelic pathogenic mutations in patient with PCD Score 2 or higher
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Figure 3C. Genes with biallelic pathogenic mutations in patient with PCD Score 3 or higher
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Figure 4A. Treemap of Genes with biallelic pathogenic mutations in the sample of patients with PCD
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Figure 4B. Treemap of Genes with biallelic pathogenic mutations in the sample of patients with PCD and Leigh Score 3 and 4
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Leigh Clinical Score of Patients without biallelic pathogenic mutations
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