Gaucher Disease: A Systematic Review and Meta-Analysis of Bone Complications and Their Response to Treatment.
Notice bibliographique
Résumé
Abstract Gaucher disease (GD) is an inherited lysosomal storage disease, which is often managed by enzyme replacement therapy (ERT). While the response to ERT is gratifying in terms of hepatosplenomegaly, cytopenias, and general well-being, the response of bony disease is very slow, and in some cases non-existent. Skeletal manifestations are the most painful and debilitating components of GD type 1, and have a negative impact on the patient’s quality of life. Whether an increase in the dose of ERT has a beneficial effect, and whether substrate reduction therapy (SRT) stabilizes and/or ameliorates bony disease, is controversial. The aim of our study was to determine whether or not there is enough evidence to make a definitive statement about the effects of ERT and SRT on bony complications of Gaucher disease. We conducted a systematic review of all studies examining the effects of ERT and SRT on bony complications of Gaucher disease published before July 2008. The studies were identified by a computerized search using Medline, Embase, The Cochrane Database of Systematic Reviews, The Cochrane Central Register of Control Trials (CCTR), and bibliographies of papers subsequently retrieved from the search. Three hundred studies were grouped according to whether they deal with the natural history of GD or therapeutic issues and 17 studies were included in the review. Meta analyses were done using a random effects model and the studies compared baseline versus after-treatment values. Quantitative Chemical Shift Imaging (QCSI) of vertebral bone marrow (BM) fat fraction, Magnetic Resonance Imaging (MRI) T1-weighted signal, semi-quantitative MRI bone marrow burden (BMB) score, and bone mineral density (BMD) Z scores of spine and femur were used to assess the effects of ERT and SRT on bony complications. Of the 4 studies that measured BM fat fraction, 3 showed that fat fraction significantly increased after ERT (Weighted Mean Difference [WMD] of 0.17, 95 % CI of 0.13 to 0.2, n= 36, p < 0.00001) and one study showed a non-significant increase in fat fraction after SRT (n = 2, p = 1.23). MRI T1-weighted signal was measured in 6 studies (5 studies on ERT and one on SRT), and 44/78 (56%) of GD1 patients were responders to ERT versus 20/78 (25.6%) who did not respond to ERT. One study showed that BM infiltration generally decreased after SRT. Of the 3 studies that measured BMB score, 2 showed that BMB score significantly decreased after ERT (WMD of −4.98, 95 % CI of −8.38 to −1.57, n= 27, p = 0.004) and one study showed a stable BMB score after SRT (n = 6, p = 0.82).The 4 studies in which BMD Z score of lumbar spine (LS) was measured showed an increase in Z score after ERT (WMD of 0.37, 95 % CI of −0.05 to 0.79, n= 54, p = 0.09) and one study showed a significant increase in LS Z score after 6 months of SRT. Of the 3 studies that measured BMD Z score of femurs, 2 showed a non-significant increase in Z score after ERT (WMD of 0.16, 95 % CI of −0.29 to 0.61, n= 43, p = 0.48) and one study showed a significant increase in femur Z score after 6 months of SRT. These studies suggest that ERT may be more effective in ameliorating BM involvement than in increasing BMD Z scores. SRT may stabilize the BM involvement and generally increase the BMD Z scores. However, further investigations are needed on the effects of SRT on bony complications of GD.
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 | 0,018 | 0,044 |
| Méta-épidémiologie (sens strict) | 0,003 | 0,002 |
| Méta-épidémiologie (sens large) | 0,024 | 0,041 |
| Bibliométrie | 0,009 | 0,010 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,003 | 0,002 |
| Science ouverte | 0,002 | 0,002 |
| Intégrité de la recherche | 0,003 | 0,002 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,004 | 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 ».