Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome
Bibliographic record
Abstract
心室中隔欠損（VSD）は小児において頻度の高い先天性心疾患である．一方Brugada症候群（BrS）は心室細動や突然死を引き起こす遺伝性疾患で，中年に多く小児では稀である．日本人不整脈コホートでは20歳未満でBrSと診断された患者は36人おり，うち5人（14%）がVSDを合併していたため，われわれは彼らの臨床像や遺伝的背景を検討した．VSD合併BrS患者は，VSDのない群と比較すると早期にBrSと診断されていた（4.0±4.6 yrs vs 11.5±5.1 yrs，p＝0.004）．BrS患者36人中15人にSCN5A変異を同定したが，VSDを合併した5人は全員がSCN5A変異を有しており（R367S，R533＊，R893C，W1345C，G1743R），すべて機能喪失型変異であった．VSD患者で右側胸部誘導のST上昇が認められる場合には，BrSを疑い遺伝子検査を含む適切なスクリーニング検査を行う必要がある．
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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".