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.

Genotype –phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta
ConclusionThe findings are valuable for accurate diagnosis and treatment of OI, mechanism exploration and prognosis judgment. Genetic profiles of OI may vary among races, but the mechanism needs to be explored. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - June 4, 2023 Category: Endocrinology Source Type: research

Transition from Pediatric to Adult Health Care in Osteogenesis Imperfecta
AbstractPurposeHere, we review issues regarding the transition from pediatric to adult-focused health care for individuals with osteogenesis imperfecta (OI).Recent FindingsThe clinical consequences of OI change during the lifespan. Fracture rates are lower in adults than in children with OI, whereas other manifestations are typically becoming more prominent in adults. The evidence base for the transition to adult health care in OI is thin, as the literature on the topic is limited to qualitative investigations on a small number of participants. A few tools to help with transition, such as a program to improve self-manageme...
Source: Current Osteoporosis Reports - June 2, 2023 Category: Orthopaedics Source Type: research

EPH138 Osteogenesis Imperfecta: Epidemiology Characteristics and Disease Burden in Two Real-World Databases
This study examines the characteristics and disease burden of OI in the United States (US) using two real-world healthcare databases. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: S. Huang, E. Yang, S. Krolczyk, L. Sansbury Source Type: research

EE29 Cost-Effectiveness Analysis and Budgetary Impact of Telescopic Rods for Treatment of Fractures and Correction of Bone Deformities in Children with Osteogenesis Imperfecta in the Brazilian Public Health System
The objective was to evaluate the efficacy, safety, cost-effectiveness and budgetary impact of telescopic rods in children with osteogenesis imperfecta in comparison with non-extensible implants for their incorporation into the Brazilian Healthcare System. (Source: Value in Health)
Source: Value in Health - June 1, 2023 Category: International Medicine & Public Health Authors: Q.C. Morais, G.M.D. Silva, C.R. Oliveira, V. Clemente, R. Lucchetta, K.C.D.F. Nakata, D.L. dos Santos, M.C.C. Fonseca Source Type: research

A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta
(Source: Indian Journal of Pediatrics)
Source: Indian Journal of Pediatrics - May 26, 2023 Category: Pediatrics Source Type: research

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones. Mutations causative of OI have been identified in over 20 genes involved in collagen folding, posttranslational modification and processing, and in bone mineralization and osteoblast development. In 2016, we described the first X-linked recessive form of OI caused by MBTPS2 missense variants in patients with moderate to severe phenotypes. MBTPS2 encodes site-2 protease, a Golgi transme...
Source: Frontiers in Endocrinology - May 25, 2023 Category: Endocrinology Source Type: research

Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis
Osteogenesis imperfecta (OI) is a group of rare inheritable disorders of connective tissue. The cardinal manifestations of OI are low bone mass and reduced bone mineral strength, leading to increased bone frag... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 24, 2023 Category: Internal Medicine Authors: Susanne Wehrli, Marianne Rohrbach and Markus Andreas Landolt Tags: Review Source Type: research

A case of osteogenesis imperfecta caused by a COL1A1 variant, coexisting with pituitary stalk interruption syndrome
Endocr J. 2023 May 12. doi: 10.1507/endocrj.EJ22-0564. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder that affects 6-7 per 100,000 populations, and pituitary stalk interruption syndrome (PSIS) is a rare congenital defect with varying degrees of pituitary hormone deficiency, affecting approximately 0.5 in every 100,000 births. Currently, only two cases of these complications have been reported. A 46-year-old male who had experienced more than 20 fractures (peripheral and vertebral) during adolescence visited our hospital for close examination. He presented with blue s...
Source: Endocrine Journal - May 14, 2023 Category: Endocrinology Authors: Takuya Kitamura Yuki Ishihara Toru Kusakabe Mika Tsuiki Kazutaka Nanba Kaho Hiroshima-Hamanaka Takumi Nomura Noriko Satoh-Asahara Akihiro Yasoda Tetsuya Tagami Source Type: research

CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signalling in osteogenesis imperfecta
Matrix Biol. 2023 May 11:S0945-053X(23)00059-8. doi: 10.1016/j.matbio.2023.05.002. Online ahead of print.ABSTRACTCa2+ is a second messenger that regulates a variety of cellular responses in bone, including osteoblast differentiation. Mutations in trimeric intracellular cation channel B (TRIC-B), an endoplasmic reticulum channel specific for K+, a counter ion for Ca2+ flux, affect bone and cause a recessive form of osteogenesis imperfecta (OI) with a still puzzling mechanism. Using a conditional Tmem38b knock out mouse, we demonstrated that lack of TRIC-B in osteoblasts strongly impairs skeleton growth and structure, leadin...
Source: Matrix Biology - May 13, 2023 Category: Molecular Biology Authors: Roberta Besio Barbara M Contento Nadia Garibaldi Marta Filibian Stephan Sonntag Doron Shmerling Francesca Tonelli Marco Biggiogera Marisa Brini Andrea Salmaso Milena Jovanovic Joan C Marini Antonio Rossi Antonella Forlino Source Type: research