Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations
Molecular Genetics and Metabolism(2023)
摘要
Prediction models, especially the FRAX®, are largely used to estimate the fracture risk at ten years, but the current algorithm does not take into account the time elapsed after a fracture. Kanis et al. recently proposed correction factors allowing to adjust the FRAX® score for fracture recency. The objective of this work was to analyze the effect of fracture recency in the FRISBEE cohort.We identified in the FRISBEE cohort subjects who sustained a validated fracture during the first 5 years following an incident MOF. We calculated their estimated 5-year risk of fracture using FRAX® uncorrected, adjusted for recency and further adjusted for the MOF/hip ratios calibration factors previously derived for the Belgian FRAX®. We compared the fracture risk estimated by FRAX® before and after these corrections to the observed incidence of validated fractures in our cohort.In our ongoing cohort, 376 subjects had a first non-traumatic incident validated MOF after inclusion; 81 had a secondary fracture during the 5 years follow-up period after this index fracture. The FRAX® score significantly under-evaluated the observed incidence of fractures in our cohort by 54.7 % (fracture rate of 9.7 %; 95 % CI, 6.8–12.9 %) if uncorrected (p < 0.001) and by 32.6 % after correction for recency (14.5 %; 95 % CI, 11.1–18.2 %) (p = 0.01). The calibration for MOF/hip ratios improved the prediction (17.5 %; 95 % CI: 13.7–21.4 %) (p = 0.2). After correcting for recency and for calibration, the predicted value was over-evaluated by 22 % (fracture rate of 26.1 %; 95 % CI, 21.6–30.5 %) but this over-evaluation was not significant (p = 0.1).Our data indicate that the correction of the FRAX® score for fracture recency improves fracture prediction. However, correction for calibration and recency tends to overestimate fracture risk in this population of elderly women.
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关键词
molecular genetics profiles,disease,molecular genetics,diagnostic,niemann-pick
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