Bibliographic record
Abstract
Patient 1 : A 6-year-old girl with gait disturbance was introduced by an orthopedist in 1990, before the discovery of causative genes in dopa-responsive dystonia (DRD). Although early motor development was normal, she had Trendelenburg’s symptoms resulting from a congenital dislocation of the left hip (acetabular dysplasia). In addition, she developed flexion-inversion of the left foot at the age of 3 years, which became aggravated toward the evening and was alleviated in the morning after sleep. Her postural dystonia spread to other limbs within 3 years but was more pronounced in the legs. Neurological examination also revealed symmetric hyperreflexia without extensor plantar responses, and rigid hypertonicity in the legs. Investigations, including copper metabolism and brain magnetic resonance imaging, were normal. Therapeutic trials with levodopa and tetrahydrobiopterin (BH4; the cofactor for tyrosine hydroxylase) were considered, and a lumbar puncture was performed to measure cerebrospinal fluid (CSF) pterins. She remarkably responded to low doses of levodopa but not to acute BH4 administration. After increasing the dosage of levodopa (20 mg/kg/day, without a decarboxylase inhibitor [DCI]) and undergoing an operation (acetabuloplasty) for the complicated condition, she became completely normal and was diagnosed as DRD. The diagnosis was supported by CSF data (decreased total biopterin and neopterin) and was confirmed later by genetic analysis ( 1 , 2 ). These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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.
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) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 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".