Late-onset Pompe disease mimicking oculopharyngeal muscular dystrophy
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
Pompe disease is a genetic condition that results in glycogen accumulation in tissues, presenting from early infancy to late adulthood with various neurological and non-neurological features. We describe a woman in her late 70s with a slowly progressive onset (over years) of ptosis, oropharyngeal dysphagia and dysarthria, who was found to have late-onset Pompe disease. This case illustrates an atypical phenotype of late-onset Pompe disease that closely mimicked oculopharyngeal muscular dystrophy. Pompe disease is relatively easily identified using dried blood spot testing as a screening test. Enzyme replacement therapy for Pompe disease has increased the importance of its timely diagnosis, and recognising the variability in its presentation.
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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 | 0.003 |
| 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 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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 it