Bibliographic record
Abstract
Le syndrome du QTlong congenital (SQTL), cliniquement et genetiquement heterogene, est caracterise par un allongement de l’intervalle QT sur l’electrocardiogramme (ECG), associe a un risque de troubles du rythme ventriculaire graves (torsades de pointes ou TdP, fibrillation ventriculaire) pouvant entrainer syncopes et mort subite. Six genes pouvant etre responsables du SQTL ont ete jusqu’a present identifies. Ils codent dans la majorite des cas pour des sous‐unites de canaux sodiques ou potassiques : deux sous‐unites α de canaux potassiques ( KCNQ1 pour LQT1, KCNH2 pour LQT2), la sous‐unite α du canal sodique ( SCN5A pour LQT3), deux sous‐unites regulatrices de canaux potassiques ( KCNE1 pour LQT5 regulant KCNQ1 et KCNE2 regulant KCNH2). Des mutations dans le gene de l’ankyrine B sont associees a la forme LQT4. La gravite potentielle du pronostic justifie un depistage des sujets atteints par un ECG et un enregistrement Holter. Afin d’identifier les sujets a risque d’evenement cardiaque, ces examens associes a une recherche genetique doivent etre effectues chez les membres de la famille directe. Le defi majeur reste l’appreciation du risque de mort subite, chez un sujet encore asymptomatique. Le traitement, sauf cas particulier, repose sur la prescription de betabloquants et l’eviction des medicaments connus pour favoriser les TdP.
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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 | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.004 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.003 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.005 | 0.005 |
| Open science | 0.004 | 0.005 |
| Research integrity | 0.007 | 0.004 |
| Insufficient payload (model declined to judge) | 0.980 | 0.987 |
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; the direct Gemma label and the distilled Codex classifier agree on what is shown here.
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".