Bibliographic record
Abstract
Abstract Subglottic stenosis (SGS) is a rare disease defined as a narrowing of the trachea at the level of the cricoid cartilage, which can be congenital or acquired. Three out of five siblings born to third-degree consanguineous Tunisian parents presented to our center with congenital subglottic stenosis (CSGS). All children were born at term and have mild midface hypoplasia. The index case was the second-born child, a male, who was referred at age 11 years for a SGS seen during intubation for a dental procedure. Bronchoscopy confirmed a grade 3 SGS with moderate distal tracheomalacia. He had never been intubated before. He had a hoarse voice, complained of significant exertional dyspnea, had stridor during upper respiratory infections (URI), and had minor skeletal anomalies. Following several intensive care unit hospitalisations requiring non-invasive ventilation at age 13 years, several balloon dilatations were performed. Since his symptoms were refractory to the dilatations, a laryngotracheal reconstruction with anterior and posterior rib graft was performed. His latest bronchoscopy showed only a minimal SGS. The patient is now 15 years old and presents mild symptoms. The third-born child, a male, was referred when he was 2 years old for a SGS seen during intubation for the correction of a ventricular septal defect. Bronchoscopy confirmed a grade 3 SGS with a severe distal tracheomalacia. He had been previously intubated for myringotomies. He had a mildly hoarse voice and a subtle stridor during URI. At age 11 years, he complained of exertional dyspnea, with his spirometry showed a severe non-reversible obstruction. Balloon dilatations were performed but failed to improve the degree of his stenosis. The patient is now 13 years old, and his symptoms as well as his spirometry remain stable. The fourth-born child, is now a 11-year-old female and is followed for asthma. Her only symptom is mild exertion dyspnea. Her spirometry shows a moderate non-reversible obstruction, and her chest x-ray demonstrates tracheal narrowing. Given her mild symptoms, bronchoscopy has yet to be performed. On a recent skeletal dysplasia genetic panel, two variants of unknown significance not associated with CSGS were identified in the second-born child, but not in his siblings. CSGS is seen in association with certain syndromes, but no causative gene has yet been identified. Very few familial cases of CGSS have been described in the literature. Nonetheless, these familial aggregations indicate a genetic cause underlying CSGS.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".