VERY EARLY DIAGNOSIS AND MANAGEMENT OF CONGENITAL ERYTHROPOIETIC PORPHYRIA AT BIRTH
Bibliographic record
Abstract
Congenital erythropoietic porphyria (CEP) is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS) leading to an accumulation of non-physiological porphyrins. The exposure of accumulated porphyrins to sunlight causes severe photosensitivity, chronic intravascular hemolysis and, eventually, irreversible mutilating deformities. Several supportive therapies such as strict sun avoidance, physical sunblocks, red blood cells transfusion, hydroxyurea and splenectomy are commonly used in the management of CEP. Currently, the only available curative treatment of CEP is HSCT. We present a child with a very early diagnosis of CEP, who became the youngest successful HSCT for CEP.
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How this classification was reachedexpand
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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.003 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".