Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

AbstractDiagnosis and management of adult individuals with low bone mass and increased bone fragility before the age of 50 can be challenging. A number of these patients are diagnosed with mild osteogenesis imperfecta (OI) through detection ofCOL1A1 orCOL1A2 mutations; however, a clinical differentiation from early-onset osteoporosis (EOOP) may be difficult. The purpose of this study was to determine the bone microstructural differences between mild OI and EOOP patients. 29 patients showed mutations inCOL1A1 orCOL1A2 and were classified as OI. Skeletal assessment included dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and bone turnover serum analyses. Bone microstructure of 21/29 OI patients was assessed and compared to 23 age- and sex-matched patients clinically classified EOOP but without mutations in the known disease genes as well as to 20 healthy controls. In the OI patients, we did not observe an age-dependent decrease in DXAZ-scores. HR-pQCT revealed a significant reduction in volumetric BMD and microstructural parameters in the distal radius and tibia in both the OI and EOOP cohorts compared to the healthy controls. When comparing the bone microstructure of OI patients with the EOOP cohort, significant differences were found in terms of bone geometry in the radius, while no significant changes were detected in all other HR-pQCT parameters at the radius and tibia. Taken together, adult mild OI patients dem...
Source: Calcified Tissue International - Category: Orthopaedics Source Type: research

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The objective of this study was to analyse hospital incidence of osteogenesis imperfecta (OI) in Spanish hospitals and the associated medical costs from a healthcare system perspective.Methods: To this aim, a retrospective multicentre study was designed analysing admission records from patients admitted with OI in specialised care settings in Spain between 2000 and 2017. Direct medical costs were calculated based on the diagnosis-related group-based hospital payment systems, determined by the Spanish Ministry of Health.Results: Overall, 3,747 admissions were reviewed, corresponding to 998 patients, 48.20% of which were mal...
Source: Journal of Medical Economics - Category: Health Management Tags: J Med Econ Source Type: research
AbstractPurpose of ReviewThe goal of this systematic review is to analyze the effectiveness of bisphosphonates (BPs) to treat bone pain in children and adolescents who have diseases with skeletal involvement.Recent FindingsWe included 24 studies (2 randomized controlled trials, 3 non-randomized controlled trials, 10 non-randomized open-label uncontrolled studies, 8 retrospective studies, and 1 study with design not specified). The majority of included studies assessed pain from a unidimensional approach, with pain intensity the most frequently evaluated dimension. Only 38% of studies used validated tools; visual analogue s...
Source: Current Osteoporosis Reports - Category: Orthopaedics Source Type: research
In conclusion, the varian t leads to expression of truncated ZNF528 and a global change of its genomic occupancy, which in turn may lead to altered expression of target genes. ZNF528 is a novel candidate gene for bone disorders and may function as a transcriptional regulator in pathways affecting bone morphology and contribu te to the phenotype of primary osteoporosis in this family together with the COL1A2 deletion. © 2020 The Authors.Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
In conclusion, the variant leads to expression of truncated ZNF528 and a global change of its genomic occupancy, which in turn may lead to altered expression of target genes. ZNF528 is a novel candidate gene for bone disorders and may function as a transcriptional regulator in pathways affecting bone morphology and contribute to the phenotype of primary osteoporosis in this family together with the COL1A2 deletion.This article is protected by copyright. All rights reserved.
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
AbstractPurpose of ReviewOsteogenesis imperfecta (OI) is a chronic disease with few treatment options available. The purpose of this review is to provide an overview on treating OI with mesenchymal stem cells (MSC).Recent FindingsOff-the-shelf MSC have a good safety profile and exhibit multilineage differentiation potential and a low immunogenic profile and are easy to manufacture. Their ability to migrate, engraft, and differentiate into bone cells, and also to act via paracrine effects on the recipient ’s tissues, makes MSC candidates as a clinical therapy for OI. Due to their high osteogenic potency, fetal MSC off...
Source: Current Osteoporosis Reports - Category: Orthopaedics Source Type: research
In this study, we confirmed the presence of GLP-1 receptor (GLP-1R) on BMMs and RAW264.7 cells and demonstrated that GLP-1R might be important for osteoclastogenesis by increasing the expression of osteoclastogenic biomarkers after GLP-1R knockdown. In addition, we found that liraglutide treatment of both BMMs and RAW264.7 cells could inhibit osteoclast formation and bone resorption. Mechanistically, Western blotting and RT-PCR showed that liraglutide inhibited the NF-κB and MAPK signalling pathways, ultimately inhibiting the expression of nuclear factor of activated T cells (NFATc1). In addition, knocking down GLP-1...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - Category: Drugs & Pharmacology Authors: Tags: Biomed Pharmacother Source Type: research
Conclusion: The dramatic difference between the phenotypes of these 2 cases is significant because it is the largest known variability of phenotypic presentation in siblings. Previous cases of siblings with differing presentations at birth have been reported, but the extent of these differences is not as extreme as in our cases. Because Bruck syndrome presents similarly to osteogenesis imperfecta and could be clinically mistaken for a form of osteogenesis imperfecta if contractures are minimal, a reasonable focus for research efforts is the development of genetic diagnostic protocols for osteogenesis imperfecta with the go...
Source: Ochsner Journal - Category: General Medicine Tags: Ochsner J Source Type: research
Therapeutic application of extracellular vesicles for musculoskeletal repair &regeneration. Connect Tissue Res. 2020 Jun 30;:1-16 Authors: Youssef El Baradie KB, Hamrick MW Abstract Traumatic musculoskeletal injuries are common in both the civilian and combat care settings. Significant barriers exist to repairing these injuries including fracture nonunion, muscle fibrosis, re-innervation, and compartment syndrome, as well as infection and inflammation. Recently, extracellular vesicles (EVs), including exosomes and microvesicles, have attracted attention in the field of musculoskeletal regeneration....
Source: Connective Tissue Research - Category: Research Tags: Connect Tissue Res Source Type: research
Discussion: To date, these techniques have only been used in research and not in daily clinical practice. Clinical application of bone quality assessment techniques depends upon several aspects such as availability of the technique in hospitals, the existence of reference data, and a cooperative network of researchers and clinicians. The evaluation of rare metabolic bone disorders requires a repertoire of different methods, owing to their distinct bone tissue characteristics. The broader use of bone material obtained from biopsies could provide much more information about pathophysiology or treatment options and establish ...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
ABSTRACTSince a key function of Wnt1 in brain development was established early on through the generation of non ‐viableWnt1‐deficient mice, it was initially surprising thatWNT1 mutations were found to cause either early ‐onset osteoporosis (EOOP) or osteogenesis imperfecta type XV (OI‐XV). The deduced function of Wnt1 as an osteoanabolic factor has been confirmed in various mouse models with bone‐specific inactivation or over‐expression, but mice carrying disease‐causingWnt1 mutations have not yet been described. Triggered by the clinical analysis of EOOP patients carrying a heterozygousWNT1 mutation (p.R235...
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
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