A Familial Occurrence of Congenital Subglottic Stenosis
Notice bibliographique
Résumé
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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Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,001 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,005 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».