Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
Statistical Analysis
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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CAs Parameter | Baseline | T1 | T3 | T5 | T7 |
---|---|---|---|---|---|
n = 99 | n = 80 | n = 99 | n = 59 | n = 36 | |
Number (mean ± sd) | 3.6 ± 3.2 | 4.6 ± 3.5 | 6.4 ± 4.1 | 8.1 ± 4.8 | 9.6 ± 5.3 |
Area 1 (mean ± sd) | 1.159 ± 0.975 | 1.367 ± 1.178 | 1.495 ± 1.162 | 1.534 ± 1.213 | 2.130 ± 1.564 |
Perimeter 2 (mean ± sd) | 4.858 ± 3.745 | 5.320 ± 4.417 | 5.753 ± 4.652 | 5.803 ± 4.647 | 6.956 ± 4.536 |
Parameter | CAs Number | CAs Area | CAs Perimeter |
---|---|---|---|
Time | 0.8213, p < 0.0001 | 0.1047, p < 0.0001 | 0.2102, p < 0.0001 |
Age | −0.1313, p = 0.0068 | −0.0019, p = 0.8446 | 0.0514, p = 0.1736 |
Baseline value | 1.1707, p < 0.0001 | 1.1274, p < 0.0001 | 1.1012, p < 0.0001 |
Time Interval | CAs Number | CAs Area | CAs Perimeter | |||
---|---|---|---|---|---|---|
p-Value | Coefficient | p-Value | Coefficient | p-Value | Coefficient | |
Baseline vs. T1 | <0.0001 | −1.1721 | 0.0004 | −0.2427 | 0.0126 | −0.7167 |
Baseline vs. T3 | <0.0001 | −2.7677 | <0.0001 | −0.3362 | 0.0003 | −0.8943 |
Baseline vs. T5 | <0.0001 | −4.4944 | <0.0001 | −0.4637 | <0.0001 | −1.2635 |
Baseline vs. T7 | <0.0001 | −5.5130 | <0.0001 | −0.8906 | <0.0001 | −1.5382 |
T1 vs. T3 | <0.0001 | −1.5956 | 0.5015 | −0.0935 | 0.9316 | −0.1776 |
T1 vs. T5 | <0.0001 | −3.3223 | 0.0113 | −0.2210 | 0.2190 | −0.5468 |
T1 vs. T7 | <0.0001 | −4.3409 | <0.0001 | −0.6479 | 0.0697 | −0.8215 |
T3 vs. T5 | <0.0001 | −1.7268 | 0.2968 | −0.1275 | 0.5781 | −0.3692 |
T3 vs. T7 | <0.0001 | −2.7453 | <0.0001 | −0.5545 | 0.2204 | −0.6439 |
T5 vs. T7 | 0.0418 | −1.0185 | <0.0001 | −0.4270 | 0.9186 | −0.2747 |
NF-Related Sign | Patients Number | Frequency | |
---|---|---|---|
n | % | ||
Lisch nodules (at least 2) | 53 | 38 | 71.7% |
Café-au-lait macules | 50 | 50 | 100% |
Atypical freckling | 50 | 50 | 100% |
Neurofibromas (at least 2 or 1 plexiform) | 50 | 27 | 54% |
Optic pathway glioma | 50 | 18 | 34.62% |
Distinctive osseous lesions | 50 | 5 | 10% |
Type of Mutation | Frequency | |
---|---|---|
n | % | |
Missense | 8 | 16.7% |
Frameshift | 16 | 33.3% |
Splicing | 7 | 14.6% |
Deletion | 3 | 6.2% |
Nonsense | 14 | 29.2% |
Total | 48 | 100% |
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Cosmo, E.; Frizziero, L.; Miglionico, G.; De Biasi, C.S.; Bruno, M.; Trevisson, E.; Gabbiato, I.; Midena, G.; Parrozzani, R. Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study. Cancers 2022, 14, 1423. https://doi.org/10.3390/cancers14061423
Cosmo E, Frizziero L, Miglionico G, De Biasi CS, Bruno M, Trevisson E, Gabbiato I, Midena G, Parrozzani R. Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study. Cancers. 2022; 14(6):1423. https://doi.org/10.3390/cancers14061423
Chicago/Turabian StyleCosmo, Eleonora, Luisa Frizziero, Giacomo Miglionico, Chiara Sofia De Biasi, Marisa Bruno, Eva Trevisson, Ilaria Gabbiato, Giulia Midena, and Raffaele Parrozzani. 2022. "Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study" Cancers 14, no. 6: 1423. https://doi.org/10.3390/cancers14061423