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 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

The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
The objective of this study was to explore the influence of t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Amira Ahmed Elfituri, Manuel Joaqu ín De Nova and Mohammadamin Najirad Tags: Research Source Type: research

Type 1 collagen: Synthesis, structure and key functions in bone mineralization
Differentiation. 2024 Feb 28;136:100757. doi: 10.1016/j.diff.2024.100757. Online ahead of print.ABSTRACTCollagen is a highly abundant protein in the extracellular matrix of humans and mammals, and it plays a critical role in maintaining the body's structural integrity. Type I collagen is the most prevalent collagen type and is essential for the structural integrity of various tissues. It is present in nearly all connective tissues and is the main constituent of the interstitial matrix. Mutations that affect collagen fiber formation, structure, and function can result in various bone pathologies, underscoring the significan...
Source: Differentiation - March 4, 2024 Category: Research Authors: Vimalraj Selvaraj Saravanan Sekaran Anuradha Dhanasekaran Sudha Warrier Source Type: research

Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, card... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2024 Category: Internal Medicine Authors: Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone and Antonella Lo Mauro Tags: Research Source Type: research

The impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents
Conclusions: The study demonstrated that the perception of OHRQoL is similar for both adolescents and children. The oral symptom was the most relevant domain for the index among patients aged eight to fourteen years while the emotional well-being was the most impacted. Clinical Relevance : this study makes contributions by indicating that addressing dental care for children and adolescents with OI is important in clinical management and better OHRQoL for this population. (Source: Clinical Oral Investigations)
Source: Clinical Oral Investigations - February 24, 2024 Category: Dentistry Source Type: research

Surgical treatment of osteogenesis imperfecta: a summary of the incidence of femoral implant-related complications in children with Sillence type I, III and IV
ConclusionsIn our cohort, lower incidence of IRCs was observed in telescopic rod group compared with plate, Kirschner wire and elastic nail. Procedure and age of surgery were independent risk factors of fracture. Likewise, procedure and age of surgery were independent risk factors of deformity, and procedure was independent risk factors of IRC. (Source: International Orthopaedics)
Source: International Orthopaedics - February 22, 2024 Category: Orthopaedics Source Type: research