A Case of Rheumatoid Arthritis Associated with<i>SMAD3</i>Gene Mutation: A New Clinical Entity?
Bibliographic record
Abstract
To the Editor: Apart from the Marfan syndrome and the Loeys-Dietz syndromes, aneurysms may occur with mutations of the SMAD3 and are associated with early osteoarthritis (OA)1. We describe a case in which a patient with the SMAD3 mutation had multiple aneurysms and rheumatoid arthritis (RA). A 65-year-old woman had had seropositive erosive RA since 1982. Her disease was severe and in 2007 required treatment with etanercept. Hand and feet radiographs showed no signs of OA. The patient was also being followed up for aneurysms in several medium-sized arteries. A left internal carotid artery aneurysm was embolized in 1998 and caused an ischemic stroke. She also had bilateral dysplastic aneurysms of the vertebral arteries and a chronic type III descending aorta dissection with a thoraco-abdominal aneurysm treated surgically in 1999. In 2008, she underwent revision surgery for a pseudo-aneurysm at the reinsertion site of the medullary arteries and opening of the left iliac aneurysm at the cannulation site. In May 2008 … Address correspondence to Dr. M. Soubrier, Service de Rhumatologie, Hôpital Gabriel Montpied, 63003 Clermont Ferrand, France. E-mail: msoubrier{at}chu-clermontferrand.fr
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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 | 0.008 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.002 | 0.003 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.014 | 0.007 |
| Insufficient payload (model declined to judge) | 0.003 | 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".