Bibliographic record
Abstract
A boy was first noted to have partial optic atrophy, strabismus, cerebellar ataxia and delayed behavioural development after the age of 4 years. Subsequently he developed kyphosis and mild pes cavus; spasticity first became apparent in the legs, and a diagnosis of Behr’s syndrome was entertained. However, the disease progressed in a series of relapses with subsequent partial recovery. At 12½ years he was shown to have bilateral depression of labyrinthine function attributable to a lesion of central vestibular pathways. He had high-normal levels of blood lactate and plasma alanine and somewhat high urinary alanine output. A diagnosis of necrotizing encephalomyelopathy was made and was confirmed when the urine was shown to inhibit thiamine pyrophosphate-adenosine triphosphate phosphotransferase. During a further relapse with increased weakness impaired conduction in limb nerves was demonstrated. After slight improvement the boy’s condition deteriorated and he required respirator care and tracheostomy. Intravenous infusion of thiamine hydrochloride and thiamine propyl disulphide (15 mg/kg daily) failed to arrest the downward course. He died at 12 years 10½ months. Autopsy showed the characteristic changes of Leigh’s disease (SNE) which involved not only diencephalon and brain stem but also the optic nerves and chiasm, cerebellum, and cervical and thoracic portions of the spinal cord. The importance of considering necrotizing encephalomyelopathy in the differential diagnosis of hereditary ataxias in childhood is emphasized.
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".