Not Just Another Aspiration Pneumonia: Oculopharyngeal Muscular Dystrophy
Bibliographic record
Abstract
Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic myopathy of adulthood onset which presents as late-onset ptosis, dysphagia and family history of ptosis and dysphagia. It occurs due to the poly(A) binding nuclear protein 1 (PABPN1) gene mutation. A 75-year-old male presented with complaints of fever, cough and worsening dysphagia. His father and paternal grandfather both had a history of ptosis and dysphagia. He was febrile, tachypneic and bilateral ptosis was noticed. The chest CT revealed consolidation. A modified barium swallow showed frank tracheal aspiration. An acetylcholine receptor antibody test was negative. An electromyogram and nerve conduction study revealed a generalized myopathic process with the absence of myotonia. With a history of adult-onset bilateral ptosis and progressive dysphagia along with the positive family history of ptosis and dysphagia, there was a strong suspicion for OPMD. Genetic testing was performed, which was positive as it detected GCG expansion in the PABPN1 gene, which is associated with OPMD and thus the diagnosis of OPMD was established. Malnutrition and recurrent aspiration are potential and harmful complications that reduce the life expectancy of these patients. J Med Cases. 2017;8(12):378-380 doi: https://doi.org/10.14740/jmc2928w
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| 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 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".