Bibliographic record
Abstract
This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The historically associated Laurence-Moon syndrome includes spastic paraparesis but not the obesity and polydactyly. They are now considered separate conditions. The most common feature of Bardet-Biedl syndrome is retinal dystrophy. The appearance of the retina in the condition is quite variable with typical retinitis pigmentosa being present in only a minority of cases. The associated optic atrophy can be primary in nature and might play a role in the decreased central vision. Diagnosis of the condition is important for visual prognosis and low vision management. The renal disease often goes undetected until specific radiological testing is done after diagnosis of Bardet-Biedl syndrome. This is significant in that early death often occurs in this condition because of the renal 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 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.005 | 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".