Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
BACKGROUND: Dysregulation of the mammalian target of rapamycin pathway is the underlying pathogenic mechanism in tuberous sclerosis complex (TSC). Other syndromes caused by genetic alterations in this pathway frequently manifest as vascular anomalies or asymmetric overgrowth. Rarely, these features have been documented in TSC. OBJECTIVE: To collate cases of TSC with vascular anomaly or overgrowth that have been published and to assemble additional recent cases, as this finding has been underreported. METHODS: TSC cases from three pediatric dermatology referral centers on two continents were reviewed to identify individuals noted to have hemihypertrophy or vascular anomalies. RESULTS: We report five additional cases of TSC associated with vascular anomalies or overgrowth that contribute to our understanding of some of the pathways and treatments involved in vascular anomalies. CONCLUSION: Hemihypertrophy and vascular anomalies may be more frequent in the setting of TSC than previously appreciated. A common pathogenetic mechanism may tie these manifestations together.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.005 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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 it