597 Organization and provision of services for better management of inborn errors of metabolism
Notice bibliographique
Résumé
Aims Inborn errors of metabolism incidence in children is steadily increasing as metabolic knowledge, newborn screening, and testing technologies advance.1 Although specialist metabolic services are essential for the proper management, a multidisciplinary team approach should be implemented alongside the specialist services to ensure holistic paediatric care.2 This review mainly focuses on the organization and provision of services for both the prevention and management of paediatric metabolic emergencies. Methods A literature review was done to determine how the services in the UK could be better organized to improve the management of inborn errors of metabolism in the paediatric population. Results 1-Challenges of the ongoing routine care 1A-Multidisciplinary team and workforce: In his needs review assessment, Burton et al stated that the workforce required for the management of IEM diseases is not equally distributed in the UK regions. Moreover, there are no outpatient services in some UK regions i.e. east midlands.3 1B-Inadequate specialist centers with an increasing number of patients: The needs assessment review in its comprehensive report stated that the metabolic specialist centers have experienced a high flow of patients and new referrals. Figure 1 demonstrates the multidisciplinary team involved in inborn errors of metabolism management. 1C-Laboratory services: It was found that the laboratories across the UK have issues with staffing, equipment, training, and emergency out-of-hours cover. Furthermore, these problems were expected to be exacerbated with the plans to expand the newborn screening services. 1D-Patients perspectives: The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) reported that parents and children had difficulties with imprecision at diagnosis, lack of support during the course of the illness, and transition of services at the different stages. Also, patients and families felt unsupported when they had to explain the disease to their relatives.4 2-Challenges at the acute presentation 2A-Lack of knowledge: In Dublin, Ireland, the knowledge of the paediatric junior doctors regarding the acute management of metabolic emergencies was assessed and they concluded that the majority of them do not have good knowledge to adequately manage common paediatric metabolic emergencies.5 2B-Pharmacological challenges: There is less familiarity and availability of the medicines required for acute management of paediatric metabolic emergencies due to the complexity and rarity of individual inborn errors of metabolism.6 2C-Transport to PICU and intensive care services: The needs assessment review also stated that some PICUs lack metabolic service consultation which would affect the outcome. Conclusion Although the incidence of isolated inborn errors of metabolism sounds rare, they have a high incidence collectively. Proper acute management of paediatric metabolic crises is essential to ensure better outcomes and to decreases both morbidity and mortality. Therefore, the provision and organization of different aspects of care toward the management of paediatric metabolic emergencies are important. References J Res Med Sci, Pourfarzam M. Orphanet Journal of Rare Diseases, Demirdas S. Journal of Inherited Metabolic Disease, Burton H. Journal of Inherited Metabolic Disease, Khangura S. Acta Paediatrica, Hawkes C. The Journal of Pediatric Pharmacology and Therapeutics, Harthan A.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,003 | 0,017 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,001 |
| Bibliométrie | 0,002 | 0,002 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,002 | 0,002 |
| Science ouverte | 0,001 | 0,002 |
| Intégrité de la recherche | 0,002 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,037 | 0,009 |
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 ».