IMG-70. Cerebrovascular disease in pediatric and adult patients with neurofibromatosis type 1: prevalence and characterization
Bibliographic record
Abstract
Abstract BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting approximately 1 in 3,000 individuals. It is caused by a pathogenic mutation in the NF1 gene. While NF1 primarily manifests with cutaneous and neurological symptoms, cerebrovascular involvement is observed in approximately 2,3-7,4% of adults and 2–5% of children. The most reported anomalies include moyamoya syndrome, arterial stenosis, aneurysms, and ectatic vessels. Although there is well-established association between exposure to radiotherapy and the development of moyamoya syndrome, vascular changes have also been observed in many NF1 patients without prior radiotherapy, suggesting an intrinsic pathogenic mechanism. METHOD We conducted a retrospective study of NF1 patients followed at two tertiary centers, CHU Sainte-Justine, a pediatric center and Centre Hospitalier de l’Université de Montréal (CHUM), the adult referral center. All patients had a confirmed diagnosis of NF1 based on NIH criteria. Data regarding age at diagnosis, type of cerebral malformations, presence of neurological symptoms, diagnostic imaging including magnetic resonance angiography (MRA) and time-of-flight (TOF) sequences, morbidity, and mortality were collected. RESULTS A total of 518 NF1 patients underwent brain MRI of whom 42,5% were pediatric and 57,5% were adults. 5,4% of MRIs revealed arterial vascular involvement (P=4,1%; A=6,4%). The vascular abnormalities identified included moyamoya syndrome (P=0,9%; A=1,0%), arterial stenosis (P=1,8%; A=0,6%), aneurysms (P=0,9%; A = 1,6%) and ischemic stroke sequelae (P = 0,9%; A=2,3%). Presence of neurological symptoms was described in 4,3% patients (P = 22,2%; A=10,5%), while in 85,5% cases (P = 77,8%; A = 89,5%), abnormalities were incidentally discovered on imaging. CONCLUSION Vascular abnormalities are a known complication in patients with NF1. However, systematic screening is not routinely performed although significant neurological complications can result from vascular anomalies. Further studies are needed to better understand if screening imaging is needed in the pediatric and adult population with NF1.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 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) | 0.002 | 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".