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Record W2436422853 · doi:10.1159/000114411

Necrotizing Encephalomyelopathy

2008· article· en· W2436422853 on OpenAlex
Henry G. Dunn, C. L. Dolman

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.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueEuropean Neurology · 2008
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsVancouver General HospitalUniversity of British Columbia
Fundersnot available
KeywordsMedicineAtaxiaAnesthesiaNystagmusLesionAtrophySurgeryInternal medicine

Abstract

fetched live from OpenAlex

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.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.680
Threshold uncertainty score0.548

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.011
GPT teacher head0.200
Teacher spread0.189 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it