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.

Home care needs assessment among caregivers of children and adolescents with osteogenesis imperfecta: a cross-sectional study
CONCLUSIONS: The findings of this study suggest that future scientific research and nursing guidance should focus on OI patients' physical training, medication management, pain relief, fracture prevention, and treatment. In addition, caregivers of patients with poor self-care ability should receive special attention in the development of interventions. This study can help with addressing the unmet home care needs of caregivers of children and adolescents with OI. It is vital to develop a personalized intervention plan based on patients' self-care ability.PMID:38641795 | PMC:PMC11027538 | DOI:10.1186/s12875-024-02367-8 (Source: Primary Care)
Source: Primary Care - April 19, 2024 Category: Primary Care Authors: Xinyi Wang Yuqing Li Yaping Zhong Min Wang Xuehua Liu Wenxuan Han Huifang Chen Ji Ji Source Type: research

Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models
AbstractOsteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular ma...
Source: Calcified Tissue International - April 19, 2024 Category: Orthopaedics Source Type: research

Home care needs assessment among caregivers of children and adolescents with osteogenesis imperfecta: a cross-sectional study
Children and adolescents with complex medical issues need home care services; however, few studies have provided insight into the unmet home care needs of the families of patients with osteogenesis imperfecta ... (Source: BMC Family Practice)
Source: BMC Family Practice - April 19, 2024 Category: Primary Care Authors: Xinyi Wang, Yuqing Li, Yaping Zhong, Min Wang, Xuehua Liu, Wenxuan Han, Huifang Chen and Ji Ji Tags: Research Source Type: research

Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: Amira Ahmed Elfituri, Manuel Joaqu ín De Nova and Mohammadamin Najirad Tags: Correction Source Type: research

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling
Conclusions and clinical relevanceOur study extends the number ofDSPP pathogenic variants and strengthens the fact thatDSPP is the most common DI causative gene irrespective of patients ’ ethnicity. In addition, we provide insights on genetic counseling issues in patients with inheritedDSPP variants taking into consideration the variable religion, culture and laws in our society. (Source: Clinical Oral Investigations)
Source: Clinical Oral Investigations - April 17, 2024 Category: Dentistry Source Type: research

Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis
ConclusionThis study provides comprehensive real-world evidence on the clinical characteristics and high medical resource utilization of OI patients in a low prevalence region like Taiwan. Early diagnosis is crucial for improving care quality and enhancing health outcomes. (Source: Osteoporosis International)
Source: Osteoporosis International - April 2, 2024 Category: Orthopaedics Source Type: research

Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles
Exp Mol Med. 2024 Apr 1. doi: 10.1038/s12276-024-01206-1. Online ahead of print.ABSTRACTA transmembrane (TMEM) protein with an unknown function is a type of membrane-spanning protein expressed in the plasma membrane or the membranes of intracellular organelles. Recently, several TMEM proteins have been identified as functional ion channels. The structures and functions of these proteins have been extensively studied over the last two decades, starting with TMEM16A (ANO1). In this review, we provide a summary of the electrophysiological properties of known TMEM proteins that function as ion channels, such as TMEM175 (KEL), ...
Source: Molecular Medicine - March 31, 2024 Category: Molecular Biology Authors: Hyunji Kang C Justin Lee Source Type: research

Medical Management for Fracture Prevention in Children with Osteogenesis Imperfecta
AbstractThere are no licensed treatments for children with osteogenesis imperfecta. Children currently receive off-label treatment with bisphosphonates, without any consistent approach to dose, drug or route of administration. Meta-analyses suggest that anti-fracture efficacy of such interventions is equivocal. New therapies are undergoing clinical trials, and it is likely that one or more will receive marketing authorisation within the next three to five years. The long-term outcome from such interventions will need to be studied carefully well beyond the period over which the clinical trials are conducted, and a consiste...
Source: Calcified Tissue International - March 29, 2024 Category: Orthopaedics Source Type: research

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
CONCLUSIONS: Mutations in the WNT1 and COL1A2 genes explain these cases of osteogenesis imperfecta.PMID:38536562 | DOI:10.1007/s11033-024-09326-7 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - March 27, 2024 Category: Molecular Biology Authors: Poonam Mehta Rahul Vishvkarma Sushil Gupta Naibedya Chattopadhyay Singh Rajender Source Type: research

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals ’ quality of life (QoL) and can be associated with increased healthcar... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 21, 2024 Category: Internal Medicine Authors: Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince and Frank Rauch Tags: Research Source Type: research

KDELR2 promotes bone marrow mesenchymal stem cell osteogenic differentiation via GSK3beta/beta-catenin signaling pathway
In conclusion, KDELR2 promotes the osteogenesis of mBMSCs by regulating the GSK3β/β-catenin signaling pathway.PMID:38470494 | DOI:10.1007/s00441-024-03884-9 (Source: Cell Research)
Source: Cell Research - March 12, 2024 Category: Cytology Authors: Xiaoyong Wu Weijun Zhang Long Long Yibo Wang Hongyu Chen Kanbin Wang Zhongxiang Wang Jinwu Bai Deting Xue Zhijun Pan Source Type: research

KDELR2 promotes bone marrow mesenchymal stem cell osteogenic differentiation via GSK3β/β-catenin signaling pathway
In conclusion, KDELR2 promotes the osteogenesis of mBMSCs by regulating the GSK3β/β-catenin signaling pathway. (Source: Cell and Tissue Research)
Source: Cell and Tissue Research - March 12, 2024 Category: Cytology Source Type: research

Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta
AbstractOsteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility largely caused by defects in structure, synthesis, or post-translational processing of type I collagen. Drugs currently used to improve skeletal health in OI were initially developed to treat osteoporosis and clinical trials are ongoing to study their effectiveness in OI adults. Additionally, novel bone-protective agents are in preclinical studies and various phases of OI clinical trials. This review summarizes current knowledge on available pharmacologic agents and current drug trials involving OI participants. A PubMed on...
Source: Calcified Tissue International - March 12, 2024 Category: Orthopaedics Source Type: research