Femoral geometric parameters and BMD measurements by DXA in adult patients with different types of osteogenesis imperfecta

Kocijan, Roland; Muschitz, Christian; Fratzl‐Zelman, Nadja; Haschka, Judith; Dimai, Hans-Peter; Trubrich, A.; Bittighofer, C.; Resch, Heinrich

doi:10.1007/s00256-012-1512-4

Cited by 14 publications

(9 citation statements)

References 41 publications

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“…Wekre et al [22] investigated 90 OI patients (78 of them with the milder forms OI type I and type IV) and found that only 10 % of adults with OI had osteoporotic T scores (T ≤ − 2.5). These results are consistent with a more recent study [21] where BMD was evaluated in a cohort of 30 adults with OI with different clinical severity. The authors reported that only 10 % of the patients with OI type I had a T score in the osteoporotic range (< − 2.5) at the total hip or the trochanteric region, and only 25 % had osteoporotic values at the femoral neck.…”

Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minersupporting

confidence: 95%

“…Moreover, 40 % of patients with OI type I had a T score within normal range at the total hip and neck and 45 % at the trochanter. In contrast, in the same study, the authors reported that all individuals with OI type IV or type III had a T score of − 2.5 or below at the femoral neck and 70 % showed osteoporotic T scores at the trochanter and the total hip [21]. Studies based on pQCT measurements revealed that the volumetric BMD could be abnormally high, normal, or low, differing between radius and tibia even in the same individual [9][10][11].…”

Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minermentioning

confidence: 77%

“…DXA measurements in severe OI are often very difficult to interpret due to small bone size, severe bone deformities, vertebral compression fractures, scoliosis, surgical interventions (kyphoplasty, vertebroplasty), or prolonged immobilization [10,21]. An additional approach to get more information from densitometry is hip structure analysis (HSA).…”

Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minermentioning

confidence: 99%

“…Of note, any change in volumetric BMD (H × A is known) is the sum of changes in the volume of bone material plus in the degree of matrix mineralization [8] versus healthy controls. However, also HSA analysis in patients with OI is complicated by the fact that the right positioning of the leg might be difficult in individuals with skeletal deformations [21]. b.…”

Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minermentioning

confidence: 99%

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Knochenmasse und Mineralgehalt in Osteogenesis imperfecta

Fratzl‐Zelman

Misof

Klaushofer

et al. 2015

Wien Med Wochenschr

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The main clinical features of osteogenesis imperfecta (OI) are low bone mass and high bone fragility. While the decrease in bone mass is generally regarded as an indicator of disease severity, bone fragility appears as the hallmark of the disorder. Bone has a multiscale hierarchical structural organization and is optimized to resist to fractures. In OI, modifications at the molecular level affect the total mechanical integrity of the bone. A specific characteristic in OI is that the bone matrix is abnormally high mineralized independently of the underlying mutation or clinical severity. The increased matrix mineralization affects bone material quality, leading to increased stiffness and brittleness and making bone prone to fractures. The purpose of this review is to give further insights on bone matrix mineralization in OI and to discuss advantages and pitfalls of invasive and noninvasive imaging techniques.

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Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minersupporting

confidence: 95%

Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minermentioning

confidence: 77%

Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minermentioning

confidence: 99%

Section: Imaging Techniques Used To Assess Bone Mass and Matrix Minermentioning

confidence: 99%

See 2 more Smart Citations

Knochenmasse und Mineralgehalt in Osteogenesis imperfecta

Fratzl‐Zelman

Misof

Klaushofer

et al. 2015

Wien Med Wochenschr

Self Cite

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“…However, DXA measurements at the lumbar spine have to be excluded from analysis in case of fractures or severe scoliosis, which are present in about 50 % of patients with OI, as previously shown [38]. In these cases, aBMD can be assessed by DXL at the calcaneus.…”

Section: Discussionmentioning

confidence: 97%

Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta

et al. 2015

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AnARHGAP25variant links aberrantRac1function to early‐onset skeletal fragility

et al. 2021

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Ras homologous guanosine triphosphatases (RhoGTPases) control several cellular functions, including cytoskeletal actin remodeling and cell migration. Their activities are downregulated by GTPase-activating proteins (GAPs). Although RhoGTPases are implicated in bone remodeling and osteoclast and osteoblast function, their significance in human bone health and disease remains elusive. Here, we report defective RhoGTPase regulation as a cause of severe, early-onset, autosomal-dominant skeletal fragility in a threegeneration Finnish family. Affected individuals (n = 13) presented with multiple low-energy peripheral and vertebral fractures despite normal bone mineral density (BMD). Bone histomorphometry suggested reduced bone volume, low surface area covered by osteoblasts and osteoclasts, and low bone turnover. Exome sequencing identified a novel heterozygous missense variant c.652G>A (p.G218R) in ARHGAP25, encoding a GAP for Rho-family GTPase Rac1. Variants in the ARHGAP25 5 0 untranslated region (UTR) also associated with BMD and fracture risk in the general population, across multiple genomewide association study (GWAS) meta-analyses (lead variant rs10048745). ARHGAP25 messenger RNA (mRNA) was expressed in macrophage colony-stimulating factor (M-CSF)-stimulated human monocytes and mouse osteoblasts, indicating a possible role for ARHGAP25 in osteoclast and osteoblast differentiation and activity. Studies on subject-derived osteoclasts from peripheral blood mononuclear cells did not reveal robust defects in mature osteoclast formation or resorptive activity. However, analysis of osteosarcoma cells overexpressing the ARHGAP25 G218R-mutant, combined with structural modeling, confirmed that the mutant protein had decreased GAP-activity against Rac1, resulting in elevated Rac1 activity, increased cell spreading, and membrane ruffling. Our findings indicate that mutated ARHGAP25 causes aberrant Rac1 function and consequently abnormal bone metabolism, highlighting the importance of RhoGAP signaling in bone metabolism in familial forms of skeletal fragility and in the general population, and expanding our understanding of the molecular pathways underlying skeletal fragility.

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Femoral geometric parameters and BMD measurements by DXA in adult patients with different types of osteogenesis imperfecta

Abstract: BMD measurement in osteogenesis imperfecta patients is very critical. The combination of BMD and geometric structural measurements at the hip in osteogenesis imperfecta patients may represent an additional helpful means in estimating bone strength and fracture risk.

Cited by 14 publications

References 41 publications

Knochenmasse und Mineralgehalt in Osteogenesis imperfecta

Knochenmasse und Mineralgehalt in Osteogenesis imperfecta

Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta

AnARHGAP25variant links aberrantRac1function to early‐onset skeletal fragility

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