Clinical characterization of a multicenter international cohort of p.A177T RNASEH2B homozygous mutated Aicardi Goutières patients: in search for prognostic factors
Bibliographic record
Abstract
Introduction This database includes the raw data on clinical characteristics of patients with Aicardi Goutières Syndrome carrying the homozygous p.A177T RNASEH2B, which is the most common variant associated to the syndrome and the variant associated to the most striking phenotypic variability. Methods Retrospective natural history study, designed to describe a cohort of patients with homozygous p.A177T RNASEH2B with variable degrees of phenotypic expression. Patients will be stratified according to disease severity in order to identify possible predictive factors of long term outcomes. Results (in brief) Our cohort confirm the significant intra-genetic cohort variability of patients carrying this specific mutation. In our case series, only few and aspecific characteristics have been found to be related to prognosis: irritability at disease onset, age at onset, presence of startle reactions
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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 | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.006 | 0.003 |
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".