Insights Into Management of Camurati-Engelmann Disease: A Case Series of Three Siblings
Bibliographic record
Abstract
Camurati-Engelmann disease (CED) is an autosomal dominant skeletal dysplasia characterized by progressive sclerosis of long bones due to a mutation in the transforming growth factor beta-1 gene. Patients experience progressive pain, weakness, and fatigability over time. There are no consensus guidelines for treatment though the use of several types of glucocorticoids, angiotensin II receptor blockers, and other therapies have been described. We present the cases of three siblings with CED managed with different treatment modalities over time (prednisone, losartan, and deflazacort). We provide objective data (pain scores, walk-test results, erythrocyte sedimentation rates) to demonstrate therapeutic efficacy. Prednisone resulted in the greatest improvement in pain; however, its use was limited by significant weight gain. Deflazacort was successful in improving pain and fatigability without the weight gain. Risks and benefits must be considered carefully as the cost of deflazacort is significantly higher than prednisone or losartan. Int J Clin Pediatr. 2020;9(4):130-134 doi: https://doi.org/10.14740/ijcp403
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| 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".