Recommendations for Lung Function Guidance in OsteogenesisImperfecta secure.jbs.elsevierhealth.comChecking if the site connection is securesecure.jbs.elsevierhealth.com needs to review the security of your connection before proceeding.Ray ID: 7c9a831afaa4dd81Performance & security by Cloudflare
Pleiotropic effects of a recessive Col1a2 mutation occurring in a mouse model of severe osteogenesisimperfecta. In Europe, approximately 85-90% of individuals with OsteogenesisImperfecta (OI) have dominant pathogenic variants in the Col1a1 or Col1a2 genes whilst for Asian, especially Indian and Chinese cohorts, this ratio is much lower. This leads to decreased or abnormal Collagen type I
Structural Variants in COL1A1 and COL1A2 in OsteogenesisImperfecta. OsteogenesisImperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I collagen genes, COL1A1 or COL1A2. Type I collagen is the main protein of the extracellular matrix in the skeleton
Non-invasive quantification of bone (re) modeling dynamics in adults with osteogenesisimperfecta treated with Setrusumab using timelapse HR-pQCT. Timelapse imaging using high-resolution peripheral quantitative computed tomography (HR-pQCT) has emerged as a noninvasive method to quantify bone (re)modelling. However, there is no consensus on how to perform the procedure. As part of the ASTEROID phase-2b multicenter trial, we used 29 same-day repeated scans from adults with osteogenesisimperfecta (OI) to identify a method that minimized measurement error. We evaluated input image type, registration method, segmentation mask, and for grayscale images various values for the voxel density difference considered formed or resorbed, minimum formation/resorption cluster size, and Gaussian smoothing
COL1A1 and COL1A2 Gene Variants Causing OsteogenesisImperfecta in a Major Referral Center of India. Heterozygous COL1A1 and COL1A2 gene variants are known to cause osteogenesisimperfecta (OI) in 90% of the patients in the Western and Japanese populations. Two previous Indian reports, a total of 49 patients, showed their proportion in the Indian population to be 44% and 71%. We studied
Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesisimperfecta: A cross-sectional study. Osteogenesisimperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Areal bone mineral density (BMD), evaluated by dual-energy X-ray absorptiometry (DXA), is used to assess bone
Impaired muscle parameters in adults with mild to severe types of osteogenesisimperfecta: a cross-sectional study. Impaired muscle parameters may further compromise the already compromised skeleton in individuals with OI. This cross-sectional study aimed to compare muscle function and body composition in adults with various OI types and healthy controls. Sixty-eight adults with OI (mean age 42.2
Bone microarchitecture and strength assessment in adults with osteogenesisimperfecta using HR-pQCT: normative comparison and challenges. Data on bone microarchitecture in osteogenesisimperfecta (OI) are scarce. The aim of this cross-sectional study was to assess bone microarchitecture and strength in a large cohort of adults with OI using high-resolution peripheral quantitative computed
Otic Capsule Demineralization and Hearing Outcome of Stapes Surgery for OsteogenesisImperfecta in Comparison With Otosclerosis. To assess the location/number of otic capsule demineralization and hearing outcomes of stapes surgery (SS) for osteogenesisimperfecta (OI) compared with otosclerosis (OS). This study included 11 and 181 consecutive ears from 6 and 152 patients with OI and OS
Safety and Efficacy of Denosumab in Children With OsteogenesisImperfecta-the First Prospective Comparative Study. Denosumab is a potential therapeutic agent for osteogenesisimperfecta (OI), but its efficacy and safety remain unclear in children with OI. We aimed to investigate the effects of denosumab on bone mineral density (BMD), spinal morphometry, and safety in children with OI compared
Root resorption of primary molars and dental development of premolars in children with OsteogenesisImperfecta medicated with bisphosphonates, grouped according to age and gender. Osteogenesisimperfecta (OI) is an inherited disorder characterized by bone fragility and skeletal alterations. The administration of bisphosphonates (BPs) to patients with OI reduces pain, thereby improving
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome - osteogenesisimperfecta. Bruck syndrome is an autosomal recessive form of osteogenesisimperfecta (OI) caused by biallelic variants in PLOD2 or FKBP10 and is characterized by joint contractures, bone fragility, short stature, and scoliosis. PLOD2 encodes LH2, which hydroxylates type I collagen telopeptide lysines
Bone matrix properties in adults with osteogenesisimperfecta are not adversely affected by Setrusumab - a sclerostin neutralizing antibody. Osteogenesisimperfecta (OI) is a skeletal dysplasia characterized by low bone mass and frequent fractures. Children with OI are commonly treated with bisphosphonates to reduce fracture rate, but treatment options for adults are limited. In the Phase 2b
Setrusumab for the Treatment of OsteogenesisImperfecta: 12-Month Results from the Phase 2b Asteroid Study. Osteogenesisimperfecta (OI) is a rare genetic disorder commonly caused by variants of the type I collagen genes COL1A1 and COL1A2. OI is associated with increased bone fragility, bone deformities, bone pain, and reduced growth. Setrusumab, a neutralizing antibody to sclerostin, increased
The impact of foot orthoses on gait in children with OsteogenesisImperfecta type I, III and IV - a cross-sectional study. For children with OsteogenesisImperfecta (OI), a rare genetic bone disease, walking can be difficult to carry out due to a combination of bone fragility and deformity, muscle weakness, joint hypermobility, and pain. Bisphosphonate treatment has facilitated more children
Characterization of hearing loss in pediatric patients with osteogenesisimperfecta. Osteogenesisimperfecta (OI) is a common heritable disorder affecting type 1 collagen. The sequelae of OI vary, but hearing loss is a significant complication with 46-58 % of patients having some degree of hearing loss. Previous studies have suggested patients with OI may have conductive, sensorineural, or mixed
Genetic analysis, phenotype spectrum and functional study of rare osteogenesisimperfecta caused by CRTAP Variants. Deficiency of cartilage-associated protein (CRTAP) can cause extremely rare autosomal recessive osteogenesisimperfecta (OI) type VII. We investigated the pathogenic mechanisms of CRTAP variants through functional studies on OI patient-derived bones. Two nonconsanguineous families
Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesisimperfecta. Osteogenesisimperfecta (OI) is a group of severe genetic bone disorders characterized by congenital low bone mass, deformity and frequent fractures. Type XV OI is a moderate to severe form of skeletal dysplasia caused by WNT1 variants. In this cohort study from southern direction for the treatment strategy of type XV osteogenesisimperfecta and relative low bone mass diseases such as early onset osteoporosis.
The IFITM5 mutation in osteogenesisimperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect. Osteogenesisimperfecta (OI) type V is the second most common form of OI, distinguished by hyperplastic callus formation and calcification of the interosseous membranes in addition to bone fragility. It is caused by a recurrent, dominant pathogenic variant (c.-14C
Low muscle density in children with osteogenesisimperfecta using opportunistic low-dose chest CT: a case-control study. The aim of the study was to investigate the muscle differences in children with osteogenesisimperfecta (OI) using opportunistic low-dose chest CT and to compare different methods for the segmentation of muscle in children. This single center retrospective study enrolled