Height prediction of individuals with osteogenesis imperfecta by machine learning.

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Abstract

[Indexed for MEDLINE] Conflict of interest statement: None of authors received any financial support that might pose a conflict of interest in connection with the submitted article. 15. J Bone Miner Res. 2024 Apr 19;39(3):271-286. doi: 10.1093/jbmr/zjae013. Bone microarchitecture and strength assessment in adults with osteogenesis imperfecta using HR-pQCT: normative comparison and challenges. Bevers MSAM(1)(2)(3), Harsevoort AGJ(4), Gooijer K(4), Wyers CE(1)(2)(5), Feenstra J(4), van Rietbergen B(3)(6), Boomsma MF(7), van den Bergh JP(1)(2)(5), Janus GJM(4). Author information: (1)Department of Internal Medicine, VieCuri Medical Center, Tegelseweg 210, 5912 BL Venlo, The Netherlands. (2)NUTRIM School for Nutrition and Translational Research In Metabolism, Maastricht University Medical Center, Minderbroedersberg 4-6, 6211 LK, Maastricht, The Netherlands. (3)Department of Biomedical Engineering, Eindhoven University of Technology, Groene Loper 3, 5612 AE, Eindhoven, The Netherlands. (4)Expert Center for adults with Osteogenesis Imperfecta, Isala, Dokter van Heesweg 2, 8025 AB, Zwolle, The Netherlands. (5)Department of Internal Medicine, Subdivision of Rheumatology, Maastricht University Medical Center, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands. (6)Department of Orthopedic Surgery, Maastricht University Medical Center, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands. (7)Department of Radiology, Isala, Dokter van Heesweg 2, 8025 AB, Zwolle, The Netherlands. Data on bone microarchitecture in osteogenesis imperfecta (OI) are scarce. The aim of this cross-sectional study was to assess bone microarchitecture and strength in a large cohort of adults with OI using high-resolution peripheral quantitative computed tomography (HR-pQCT) and to evaluate challenges of using HR-pQCT in this cohort. Second-generation HR-pQCT scans were obtained at the distal radius and tibia in 118 men and women with Sillence OI type I, III, or IV using an extremity-length-dependent scan protocol. In total, 102 radius and 105 tibia scans of sufficient quality could be obtained, of which 11 radius scans (11%) and 14 tibia scans (13%) had a deviated axial scan angle as compared with axial angle data of 13 young women. In the scans without a deviated axial angle and compared with normative HR-pQCT data, Z-scores at the radius for trabecular bone mineral density (BMD), number, and separation were -1.6 ± 1.3, -2.5 ± 1.4, and -2.7 (IQR: 2.7), respectively. They were -1.4 ± 1.5 and -1.1 ± 1.2 for stiffness and failure load and between ±1 for trabecular thickness and cortical bone parameters. Z-scores were significantly lower for total and trabecular BMD, stiffness, failure load, and cortical area and thickness at the tibia. Additionally, local microarchitectural inhomogeneities were observed, most pronounced being trabecular void volumes. In the scans with a deviated axial angle, the proportion of Z-scores 4 was significantly higher for trabecular BMD and separation (radius) or most total and trabecular bone parameters (tibia). To conclude, especially trabecular bone microarchitecture and bone strength were impaired in adults with OI. HR-pQCT may be used without challenges in most adults with OI, but approximately 12% of the scans may have a deviated axial angle in OI due to bone deformities or scan positioning limitations. Furthermore, standard HR-pQCT parameters may not always be reliable due to microarchitectural inhomogeneities nor fully reflect all inhomogeneities. Plain Language Summary: OI is a rare condition with large clinical heterogeneity. One of the major characteristics associated with OI is the increased fracture risk due to defects in bone structure and material. Data on the defects in bone structure at the micrometer level (i.e. bone microarchitecture) are scarce. Bone microarchitecture can be assessed noninvasively using HR-pQCT, but its use in OI has not extensively been described. Yet, potential challenges may arise related to among others the occurrence of short extremities and skeletal deformities in OI. We assessed bone microarchitecture and strength in 118 adults with OI types I, III, or IV using HR-pQCT with an extremity-length-dependent scan protocol. Additionally, we evaluated potential challenges of using HR-pQCT in this cohort. Our results demonstrated that predominantly trabecular microarchitecture—especially trabecular number and separation—and overall bone strength were impaired in adults with OI as compared with normative data. Furthermore, we observed various microarchitectural inhomogeneities, most pronounced being trabecular void volumes. Regarding applicability, HR-pQCT could be used without challenges in most adults with OI. However, deviations in scan region may potentially influence HR-pQCT parameters, and standard HR-pQCT analyses may not always give accurate results due to microarchitectural inhomogeneities nor fully reflect all microarchitectural inhomogeneities. © The Author(s) 2024. Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research. All rights reserved. For permissions, please email: journals.permissions@oup.com. DOI: 10.1093/jbmr/zjae013