Evidence mapPaperPMID 42524503Full record

ArticleJBMR plus2026

Histological and molecular characterization of bone integrity in osteogenesis imperfecta: a case series across genetic subtypes.

Zhiming Wu, Suzanne den Haan, Helen E King, Wouter H Nijhuis, Harrie Weinans, Anne J Spaans, Ralph Sakkers, Kelly Warmink

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Article in JBMR plus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Zhiming WuDepartment of Orthopaedics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.ORCID https://orcid.org/0000-0002-9764-2901
Suzanne den HaanDepartment of Orthopaedics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.ORCID https://orcid.org/0009-0006-9797-1939
Helen E KingDepartment of Earth Sciences, Utrecht University, Utrecht, 3584 CB, The Netherlands.ORCID https://orcid.org/0000-0002-1825-782X
Wouter H NijhuisDepartment of Orthopaedics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.ORCID https://orcid.org/0000-0001-6683-7549
Harrie WeinansDepartment of Orthopaedics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.ORCID https://orcid.org/0000-0002-2275-6170
Anne J SpaansDepartment of Orthopaedics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.ORCID https://orcid.org/0000-0002-4959-4562
Ralph SakkersDepartment of Orthopaedics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.ORCID https://orcid.org/0000-0002-8419-9314
Kelly WarminkDepartment of Orthopaedics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.ORCID https://orcid.org/0000-0003-4131-675X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is a genetically heterogeneous skeletal disorder characterized by bone fragility and variable clinical severity. However, how molecular defects translate into alterations of bone microstructure and composition across OI subtypes remains incompletely understood. In this case series, we systematically evaluated cortical bone integrity in patients with OI types 1, 3, 4, 6, 8, and 14 using histological and molecular approaches, including Raman spectroscopy, and compared findings with non-OI controls. Histological analyses revealed case-specific disruption of bone architecture across OI cases, where the severity of bone disorganization increased progressively from OI type 1 to types 3, 6, 8, and 14. In addition osteocyte lacunar area (Ot.Lc.Ar) was increased specifically in OI subtypes 1, 6, 8, and 14 bones, while osteocyte lacunar appearance was heterogeneous in size, shape, alignment, and spatial distribution in OI types 3, 6, 8, and 14, underscoring the case-specific alterations. Consistently, polarized light microscopy demonstrated increased green birefringence under polarized light microscopy in OI types 1 and 14 and reduced lamellar thickness in OI types 1, 6, and 8. At the molecular level, Raman spectroscopic analyses showed reduced mineral and organic matrix signals in OI bone, specifically OI type 3, indicating compromised mineralization and altered bone matrix composition. Together, these findings illustrate the potential that OI bone phenotype illustrates potential subtype-specific trends in bone microarchitecture, collagen disorganization, impaired lamellar bone formation, and deficits in bone mineral and matrix composition. This integrative analysis links genetic defects in collagen-related and non-collagen genes to multiscale alterations in bone tissue, providing mechanistic insight into OI pathophysiology and highlighting potential structural targets for individualized therapeutic strategies.

Indexed as

bone histomorphometrybone mineralizationcollagenosteogenesis imperfectaraman spectroscopy

Identifiers

PMID42524503
PMCPMC13411277

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.