Bibliographic record
Abstract
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomalies/intellectual disability disorder due to deletion, or loss of material, of the distal portion of the short arm of chromosome 4. Seizures/epilepsy represents one of the main clinical challenges in 4p WHS. Epilepsy is well controlled in most WHS individuals (80%). Phenobarbital has been reported as the most effective drug against tonic-clonic seizures. About 30-40% of the deletions will not be detected by karyotype. Therefore, fluorescence in situ hybridization (FISH) with cosmid probes from the WHS critical region (WHSCR), or comparative genomic hybridization microarray (aCGH) are necessary to confirm the diagnosis. Brain magnetic resonance imaging (MRI) should be performed in all individuals with seizures, since malformation of the cerebral cortex may modify prognosis and management. A waking/sleeping video-EEG-polygraphic study, electrocardiogram [ECG], surface electromyogram [EMG]) is recommended in infancy and childhood, in order to achieve the best characterization of seizures.
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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.168 | 0.065 |
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".