Osteogenesis Imperfecta (brittle bone disease) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

The Regulatory Network of CREB3L1 and Its Roles in Physiological and Pathological Conditions
Int J Med Sci. 2024 Jan 1;21(1):123-136. doi: 10.7150/ijms.90189. eCollection 2024.ABSTRACTCREB3 subfamily belongs to the bZIP transcription factor family and comprises five members. Normally they are located on the endoplasmic reticulum (ER) membranes and proteolytically activated through RIP (regulated intramembrane proteolysis) on Golgi apparatus to liberate the N-terminus to serve as transcription factors. CREB3L1 acting as one of them transcriptionally regulates the expressions of target genes and exhibits distinct functions from the other members of CREB3 family in eukaryotes. Physiologically, CREB3L1 involves in the...
Source: International Journal of Medical Sciences - January 2, 2024 Category: Biomedical Science Authors: Ying Zhao Zhou Yu Yajuan Song Liumeizi Fan Ting Lei Yinbin He Sheng Hu Source Type: research

Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa
European Journal of Human Genetics, Published online: 15 December 2023; doi:10.1038/s41431-023-01509-3Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 15, 2023 Category: Genetics & Stem Cells Authors: Kimberly Christine Coetzer Ekkehard Z öllner Shahida Moosa Source Type: research

SA42 Project SATURN – A Real-World Evidence and Data Collaboration With Existing European Datasets in Osteogenesis Imperfecta to Support Future Therapies
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment (HTA) bodies may require data on Effectiveness, Relative Effectiveness, and Cost-Effectiveness. Healthcare systems may require data on Clinical Utility, Savings, and Budget Impact. Furthermore, the exact requirements of these bodies vary country by country, and sometimes even region to region, resulting in a patchwork of different data requirements to achieve effective patient access reimbursement. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: L. Sangiorgi, M. Boarini, I. Westerheim, R.T. Skarberg, J. Clancy, V. Wang, M. Mordenti Source Type: research

PCR250 Management of Osteogenesis Imperfecta: Self-Reported Funding Sources for Healthcare, Consumables and Services Across the EU5 and Nordics
The IMPACT Survey explored self-reported experiences of the clinical, humanistic, and economic impact of osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, bone fragility, and variable secondary features. Here we present findings on funding sources relating to healthcare, OI consumables and services in adults with OI across the EU5 and Nordic countries. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: L.L. Wekre, I. Westerheim, T. van Welzenis, C. Raggio, M.B. Bober, T. Hart, O. Semler, R. Dadzie, M. Rapoport, S. Prince, F. Rauch Source Type: research

PCR194 A Global Perspective on Self-Reported Productivity Losses Associated With Osteogenesis Imperfecta
The IMPACT Survey explored the clinical, humanistic, and economic impact of osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, bone fragility and deformities, and variable secondary features. Here we present global findings from self-reported data on productivity losses associated with OI in adults. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: I. Westerheim, T. van Welzenis, L.L. Wekre, C. Raggio, M.B. Bober, O. Semler, T. Hart, R. Dadzie, M. Rapoport, S. Prince, F. Rauch Source Type: research

PCR140 Management of Osteogenesis Imperfecta: Self-Reported Access Challenges to Consumables and Services Across the EU5 and Nordics
The IMPACT Survey explored self-reported experiences of the clinical, humanistic, and economic impact of osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, bone fragility, and variable secondary features. Here we present findings on access challenges relating to consumables and services in adults with OI across the EU5 and Nordic countries. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: T. van Welzenis, L.L. Wekre, I. Westerheim, C. Raggio, M.B. Bober, O. Semler, T. Hart, R. Dadzie, M. Rapoport, S. Prince, F. Rauch Source Type: research

Access to care among patients with osteogenesis imperfecta during the COVID-19 pandemic
CONCLUSION: While most study participants experienced delays in care, they did not report an increase in symptoms associated with OI. They also frequently utilized telehealth as a tool to see their providers. Future research should focus on the impact of changes in telehealth legislation on patients' ability to access care. As methods for care delivery evolve, the needs of people with OI and other rare diseases should be considered and prioritized.PMID:38015270 | DOI:10.1007/s11657-023-01355-2 (Source: Pain Physician)
Source: Pain Physician - November 28, 2023 Category: Anesthesiology Authors: Sara N Malina Jill C Flanagan Karen J Loechner Malinda Wu Source Type: research

Assessing type I collagen expression and quality in cellular models of osteogenesis imperfecta
Clin Genet. 2023 Nov 28. doi: 10.1111/cge.14463. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is a group of genetic disorders of bone formation characterized by soft and shorter brittle bones in affected individuals. OI is generally considered a collagenopathy resulting from abnormal expression of type I collagen. As assay system to detect the cellular level and quality of type I collagen would help in rapid and correct detection of OI from the diagnostic perspectives. Here, we report an immunofluorescence assay for detection of type I collagen in fibroblast models of OI and represented them into two broad ca...
Source: Clinical Genetics - November 28, 2023 Category: Genetics & Stem Cells Authors: Prajna Udupa Akshaykumar Nanaji Shrikondawar Akash Ranjan Debasish Kumar Ghosh Source Type: research

Access to care among patients with osteogenesis imperfecta during the COVID-19 pandemic
ConclusionWhile most study participants experienced delays in care, they did not report an increase in symptoms associated with OI. They also frequently utilized telehealth as a tool to see their providers. Future research should focus on the impact of changes in telehealth legislation on patients ’ ability to access care. As methods for care delivery evolve, the needs of people with OI and other rare diseases should be considered and prioritized. (Source: Archives of Orthopaedic and Trauma Surgery)
Source: Archives of Orthopaedic and Trauma Surgery - November 28, 2023 Category: Orthopaedics Source Type: research

Access to care among patients with osteogenesis imperfecta during the COVID-19 pandemic
ConclusionWhile most study participants experienced delays in care, they did not report an increase in symptoms associated with OI. They also frequently utilized telehealth as a tool to see their providers. Future research should focus on the impact of changes in telehealth legislation on patients ’ ability to access care. As methods for care delivery evolve, the needs of people with OI and other rare diseases should be considered and prioritized. (Source: Archives of Osteoporosis)
Source: Archives of Osteoporosis - November 28, 2023 Category: Orthopaedics Source Type: research

Protocol of a randomised trial of teriparatide followed by zoledronic acid to reduce fracture risk in adults with osteogenesis imperfecta
Introduction Osteogenesis imperfecta (OI) is a rare genetic disease associated with multiple fractures throughout life. It is often treated with osteoporosis medications but their effectiveness at preventing fractures is unknown. The Treatment of Osteogenesis Imperfecta with Parathyroid Hormone and Zoledronic Acid trial will determine if therapy with teriparatide (TPTD) followed by zoledronic acid (ZA) can reduce the risk of clinical fractures in OI. Methods and analysis Individuals aged ≥18 years with a clinical diagnosis of OI are eligible to take part. At baseline, participants will undergo a spine X-ray, and have b...
Source: BMJ Open - November 22, 2023 Category: General Medicine Authors: Hald, J. D., Keerie, C., Weir, C. J., Javaid, M. K., Lam, W., Osborne, P., Walsh, J., Langdahl, B. L., Ralston, S. H. Tags: Open access, Rheumatology Source Type: research

Genes, Vol. 14, Pages 2062: A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy & mdash;Case Report and Literature Review
Genes, Vol. 14, Pages 2062: A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy—Case Report and Literature Review Genes doi: 10.3390/genes14112062 Authors: Karolina Vankevičienė Aušra Matulevičienė Eglė Mazgelytė Virginija Paliulytė Ramunė Vankevičienė Diana Ramašauskaitė Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasou...
Source: Genes - November 10, 2023 Category: Genetics & Stem Cells Authors: Karolina Vankevi čienė Au šra Matulevičienė Egl ė Mazgelytė Virginija Paliulyt ė Ramun ė Vankevičienė Diana Rama šauskaitė Tags: Case Report Source Type: research