Prevalence of neurofibromatosis type 1 in patients presenting with neurofibromas of the eyelid and orbit
Bibliographic record
Abstract
Abstract Aims: This study aimed to demonstrate the prevalence of neurofibromatosis type 1 diagnosis in patients presenting with neurofibromas of eyelid and orbit and the factors associated with this disease. Materials and Methods: Charts from patients with pathology reports of neurofibroma of the eyelid and orbit from the MUHC-McGill University Ocular Pathology Laboratory from 2007 to 2022 were reviewed to find information about clinical diagnosis of neurofibromatosis type (NF) 1, sex, age, presence of Lisch nodules, and other findings. The data were analyzed with the Chi-square test and Fisher’s exact test. Results: The prevalence of NF1 in patients presenting neurofibromas of the eyelid and orbit was 47.62% in the population studied. All patients with plexiform neurofibromas and all the ones presenting Lisch nodules had an NF1 diagnosis. Conclusion: All patients with plexiform neurofibromas of the eyelid or orbit and their relatives should be investigated for NF1. Ophthalmological evaluation is essential for the identification of Lisch nodules since their presence, associated with two neurofibromas are enough to meet the criteria for NF1; therefore, the family of patients with that presentation should be clinically, and if necessary, genetically tested.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".