Study to Evaluate Romosozumab in Children and Adolescents With Osteogenesis Imperfecta

Condition:   Osteogenesis Imperfecta Interventions:   Drug: Romosozumab;   Dietary Supplement: Calcium;   Dietary Supplement: Vitamin D Sponsor:   Amgen Not yet recruiting
Source: - Category: Research Source Type: clinical trials

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The objective of this study was to analyse hospital incidence of osteogenesis imperfecta (OI) in Spanish hospitals and the associated medical costs from a healthcare system perspective.Methods: To this aim, a retrospective multicentre study was designed analysing admission records from patients admitted with OI in specialised care settings in Spain between 2000 and 2017. Direct medical costs were calculated based on the diagnosis-related group-based hospital payment systems, determined by the Spanish Ministry of Health.Results: Overall, 3,747 admissions were reviewed, corresponding to 998 patients, 48.20% of which were mal...
Source: Journal of Medical Economics - Category: Health Management Tags: J Med Econ Source Type: research
Authors: Mussell EA, Jardaly A, Gilbert SR Abstract BACKGROUND: Flexible intramedullary nailing (FIMN) is relatively contraindicated for pediatric length unstable femoral fractures. AIM: To evaluate FIMN treatment outcomes for pediatric diaphyseal length unstable femoral fractures in patients aged 5 to 13 years. METHODS: This retrospective study includes pediatric patients (age range 5-13 years) who received operative treatment for a diaphyseal femoral fracture at a single institution between 2013 and 2019. Length unstable femur fractures treated with FIMN were compared to treatment with other fixation meth...
Source: World Journal of Orthopaedics - Category: Orthopaedics Tags: World J Orthop Source Type: research
ConclusionRespiratory symptoms negatively impact both psychosocial wellbeing in the OI population and limit daily physical activity. These limitations occur irrespective of their OI type, age, stature, or scoliosis and reflect the dramatic impact of respiratory status on quality of life for people with OI. Future studies should examine the etiology of respiratory insufficiency in this population so guidelines for management can be established.
Source: Archives of Orthopaedic and Trauma Surgery - Category: Orthopaedics Source Type: research
Abstract Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder characterized by bone fragility and skeletal deformity. To maintain skeletal strength and integrity, bone undergoes constant remodeling of its extracellular matrix (ECM) tightly controlled by osteoclast-mediated bone resorption and osteoblast-mediated bone formation. There are at least 20 recognized OI-forms caused by mutations in the two collagen type I-encoding genes or genes implicated in collagen folding, posttranslational modifications or secretion of collagen, osteoblast differentiation and function...
Source: Cellular Signalling - Category: Cytology Authors: Tags: Cell Signal Source Type: research
Abstract Short stature is a feature when a person's height is more than 2 SDS below the corresponding mean height for a given age, gender, and population. It can be influenced by many factors essential to growth plate. Here we report a three-generation family with 13 patients affected by osteogenesis imperfecta (OI) type I, short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) or both. Panel sequencing of the proband revealed mutations in two extracellular matrix related genes: COL1A1 and ACAN. When comparing the quantitative trait, height within ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
AbstractPurpose of ReviewThe goal of this systematic review is to analyze the effectiveness of bisphosphonates (BPs) to treat bone pain in children and adolescents who have diseases with skeletal involvement.Recent FindingsWe included 24 studies (2 randomized controlled trials, 3 non-randomized controlled trials, 10 non-randomized open-label uncontrolled studies, 8 retrospective studies, and 1 study with design not specified). The majority of included studies assessed pain from a unidimensional approach, with pain intensity the most frequently evaluated dimension. Only 38% of studies used validated tools; visual analogue s...
Source: Current Osteoporosis Reports - Category: Orthopaedics Source Type: research
This study recruited a Chinese cohort of 74 AR-OI families, aiming to establish the mutation spectrum and to examine the genotypic and phenotypic correlation. We identified 82 variants including 25 novel variants and 57 HGMD reported variants in these AR-OI patients, using whole exome sequencing/panel sequencing combined with Sanger sequencing. Pathogenic mutations were found at WNT1 (n = 30, 40.54%), SERPINF1 (n = 22, 29.73%), FKBP10 (n = 10, 13.51%), CRTAP (n = 3, 4.05%), P3H1 (n = 3, 4.05%), SERPINH1 (n = 2, 2.70%), SEC24D (n = 3, 4.05%), and PLOD2 (n = 1, 1.35%) respectively. Thus, WNT1 represents the most frequent pat...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We report the change in BMD using dual-energy X-ray and peripheral quantitative computed tomography over a 2.3-year period in the proband. This case report highlights the importance of BMD studies and genetic testing in the diagnostic process for brittle bone disorders.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
CORR Insights®: Cardiopulmonary Status in Adults with Osteogenesis Imperfecta: Intrinsic Lung Disease May Contribute More Than Scoliosis. Clin Orthop Relat Res. 2020 Sep 10;: Authors: Gerdhem P PMID: 32925237 [PubMed - as supplied by publisher]
Source: Clinical Orthopaedics and Related Research - Category: Orthopaedics Authors: Tags: Clin Orthop Relat Res Source Type: research
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