A case of encephalopathy following a 10k run
Bibliographic record
Abstract
We present the case of a 47-year-old man who was admitted with unexplained delirium. He had taken part in a 10km running race three days before. He was admitted to intensive care one year earlier having presented with vomiting, seizures and encephalopathy. This occurred after a road trip in the USA with frequent steakhouse visits. No definitive diagnosis was made. His sister died at 57 from a presumed encephalitis after chemotherapy for breast cancer, but the diagnosis was uncertain. On initial examina- tion the patient was delirious but neurological examination was unremarkable. Blood tests revealed a low-grade neutrophilia with a normal CRP; ammonia was high (340 micromols/L); CK was normal; plasma amino acid profile showed a high glutamine level (1237micromol/L). EEG findings were in keeping with moderate encephalopathy. Genetic testing revealed hemizygosity for the X-linked pathogenic c. 118>T p.(Arg40Cys) mutation, indicating ornithine transcarbamylase (OTC deficiency). The patient’s clinical state improved with supportive measures. He was referred to a specialist metabolic disorder clinic and has remained well. OTC deficiency is a rare but important cause of hyperammonaemic encephalopathy, which can be fatal. Targeted family history in cases of encephalopathy may be helpful. Diagnosis allows genetic counselling and successful management with straightforward methods including diet and exercise modification, dietary supplementation and “SOS” formulas for times of acute illness. We explore investiga- tion and management for under-recognised, important, causes of hyperammonaemic encephalopathy. claire.carstairs@nhs.net
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.003 |
| Research integrity | 0.004 | 0.004 |
| Insufficient payload (model declined to judge) | 0.003 | 0.002 |
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".