Improved ways to screen for patients with Fabry disease, involving optometry in a multidisciplinary approach
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Notice bibliographique
Résumé
Purpose: Fabry disease is considered a rare disease, based on its prevalence. It is recognized, however, that there are many individuals aff ected who are unscreened. This article aims to demonstrate how optometrists can help to defi ne improved ways to screen patients aff ected by this rare metabolic disorder, in a multidisciplinary perspective. Methods: A screening model, based on continuous education for optometrists was developed. Under this model, suspect patients identifi ed by optometrists are referred to Université de Montréal's vision clinic (EOUM) for further testing and assessment. Should ocular manifestations and/or case history prove relevant to these rare diseases, a urinary test is then performed to fi nd related biomarkers. When suspicions narrow to probable Fabry disease, the subjects are referred to metabolic disorder specialists for complete DNA testing and medical follow-up of their condition. Results: Continuous education lectures were given across Quebec, reaching nearly 60% of the province’s optometrists. Sixteen months following the model's implementation, ten suspected patients were referred. Of these, two new Fabry patients were confi rmed, leading to the diagnosis of fi ve other relatives with the disease. Two additional persons, diagnosed as Fabry patients, but lost to medical follow-up for many years, were once again placed under the care of Fabry experts. To this point, because of optometric involvement, seven new patients of Fabry were diagnosed and two were brought back under experts care. Conclusion: Continuous education lectures were given across Quebec, reaching near 60% of the province’s optometrists. Sixteen months following the model's implementation, ten suspected patients were referred. Of these, two new Fabry patients were confi rmed, leading to the diagnosis of fi ve other relatives with the disease. Two additional persons, diagnosed as Fabry patients, but lost to medical follow-up for many years, were once again placed under the care of Fabry experts. To this point, because of optometric involvement, seven new patients of Fabry were diagnosed and two were brought back under experts care.
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Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,003 | 0,003 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,001 |
| Méta-épidémiologie (sens large) | 0,002 | 0,001 |
| Bibliométrie | 0,017 | 0,007 |
| Études des sciences et des technologies | 0,001 | 0,000 |
| Communication savante | 0,000 | 0,002 |
| Science ouverte | 0,001 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,002 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 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 découle