MOTOR NEURON DISEASE: A CASE OF MISGUIDED THERAPEUTIC NIHILISM
Bibliographic record
Abstract
We report the case of a 62 year old gentleman with sensorineuronal hearing loss beginning in the second decade. At the age of 40 he collapsed and was unable to walk more than a few metres. He was admitted to hospital and diagnosed with a motor neuron disease on the basis of an EMG. Examination at the time revealed bilateral deafness, facial weakness, dysphagia, dysphonia and both proximal and distal weakness. The family history was remarkable for two sisters who died of a similar condition in the second decade. In view of the combination of sensory neuronal deafness and a motor neuronopathy, a diagnosis of Brown Violetta Van Laera (BVVL) syndrome was made. A PEG tube was inserted and the patient was discharged to a nursing home for palliation. After several months, our patient discharged himself, reintroduced thickened fluids resulting in removal of the PEG tube. His clinical condition has continued to improve although he intermittently requires a wheelchair. Genetic testing of the SLC52A3 gene revealed two missense mutations (p.Glu36Lys and p.Val413Ala) confirming the clinical diagnosis of BVVL. SLC52A3 encodes a riboflavin transporter and in case series, riboflavin supplementation has halted or reversed the disease.
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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 | 0.001 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.007 | 0.003 |
| 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".