Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones. It is our aim to illustrate variability in clinical presentation of severe form of OI. As an example of personalized surgery approach we present an 11-year-old girl with OI type III. Prior to referral to our hospital, she was treated with 18 cycles of bisphosphonates as well as with several different surgical procedures. Due to no improvement in her mobility status she underwent two additional surgeries at our hospital with a 5-month interval between them. Prior to the surgery, molecular genetic analysis was performed and the clinical diagnosis of OI was confirmed. Using the Fassier-Duval intramedullary telescoping nail, we performed correction osteotomies of both femurs and lower legs in two separate settings, with a very good final result. According to our experience, the Fassier–Duval nailing system is good option, but one should pay attention to many details while performing surgery. Thus, making treatment of OI patients very personalized. In this paper we present a unique personalized approach in OI: firstly, diagnosing COL1A1 gene mutations and secondly, performing a complex two-part surgery.
Source: Journal of Pediatric Orthopaedics B - Category: Orthopaedics Tags: MISCELLANEOUS Source Type: research

Related Links:

This article is protected by copyright. All rights reserved.
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
This study reports the eighth child with OI and the homozygous mutation in COL1A2; and the first two individuals with the heterozygous p.Gly337Ser mutation in COL1A2 causing an isolated DI without OI. PMID: 32081708 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
This article is protected by copyright. All rights reserved.
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
Osteogenesis imperfecta (OI) is the term used to describe a group of rare inherited skeletal disorders characterized by a greatly increased risk of fragility fractures (1). Mutations in several genes can cause OI but the condition is most commonly caused by mutations of COLIA1 or COL1A2 resulting in the production of collagen which is abnormal or present in reduced amounts. Fractures in OI are particularly common during childhood but the elevated fracture risk continues throughout life. Bone mineral density (BMD) can be reduced in OI but the magnitude of increase in fracture risk is far greater than can be accounted for by...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Publication date: Available online 7 February 2020Source: Journal of Clinical Orthopaedics and TraumaAuthor(s): Rujuta Mehta, Uday MahajanAbstractVery few cases of simultaneous occurrence of tibial tuberosity fracture with lower pole patella and distal patellar tendon rupture type injuries have been reported in adolescent athletic age group, but its occurrence in osteogenesis imperfecta (OI)* has not been reported to the best of our knowledge in a literature search of last 5 years in the English Language. The mechanism of avulsion injury after low-velocity trauma and the underlying pathology is a unique combination in our ...
Source: Journal of Clinical Orthopaedics and Trauma - Category: Orthopaedics Source Type: research
AbstractIn osteogenesis imperfecta (OI), vertebrae brittleness causes thorax deformations and leads to cardiopulmonary failure. As sclerostin-neutralizing antibodies increase bone mass and strength in animal models of osteoporosis, their administration in two murine models of severe OI enhanced the strength of vertebrae in growing female Crtap−/− mice but not in growing male Col1a1Jrt/+ mice. However, these two studies ignored the impact of antibodies on spine growth, fracture rates, and compressive mechanical properties. Here, we conducted a randomized controlled trial in oim/oim mice, an established model of ...
Source: Calcified Tissue International - Category: Orthopaedics Source Type: research
Abstract Respiratory disease is a leading cause of mortality in patients with Osteogenesis imperfecta (OI), a connective tissue disease that causes severely reduced bone mass and is most commonly caused by dominant mutations in type I collagen genes. Previous studies proposed that impaired respiratory function in OI patients was secondary to skeletal deformities however recent evidence suggests the existence of a primary lung defect. Here, we analyzed the lung phenotype of CrtapKO mice, a mouse model of recessive OI. While we confirm changes in the lung parenchyma that are reminiscent of emphysema, we show that Cr...
Source: American Journal of Physiology. Lung Cellular and Molecular Physiology - Category: Cytology Authors: Tags: Am J Physiol Lung Cell Mol Physiol Source Type: research
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Conclusion: The analysis of the OI case revealed a possible oligogenic origin of the disease attributable to additive effects of three candidate genes, i.e. ABCA13, QRFPR, and IFTIM5.Clinical relevance: Most OI cases in humans and domestic animals reported so far are caused by distinct dominant or recessive monogenic mutations, therefore a potential oligogenic additive genetic effect is a novel finding. Furthermore, the case presented here demonstrates that cross-species genetic analyses might not always be straightforward. PMID: 31980012 [PubMed - as supplied by publisher]
Source: Veterinary Quarterly - Category: Veterinary Research Tags: Vet Q Source Type: research
ConclusionFetal MRI is a useful diagnostic tool for skeletal dyplasias and excluded the diagnosis in nearly half of referred pregnancies. In addition to providing fetal lung volumes, fetal MRI demonstrates findings of the brain in achondroplasia and thanatophoric dysplasia, of the spine in achondroplasia and achondrogenesis, of the calvarium in osteogenesis imperfecta and thanatophoric dysplasia, and of the cartilage in Kniest dysplasia.
Source: Pediatric Radiology - Category: Radiology Source Type: research
More News: Genetics | Girls | Hospitals | Orthopaedics | Osteogenesis Imperfecta (brittle bone disease) | Pediatrics