Orthopedic Surgery in Osteogenesis Imperfecta in Adults.

IF 3.3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Calcified Tissue International Pub Date : 2024-11-16 DOI:10.1007/s00223-024-01306-0
Pascal Bizot
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Abstract

Osteogenesis imperfecta is a genetic disorder, mainly characterized by bone fragility. In adult with osteogenesis imperfecta, surgical treatment may be indicated as an emergency procedure in the event of a fracture, or as a scheduled procedure in case of patient functional impairment due to many causes, such as persistent pain, complex bone deformities, and degenerative arthropathies. In all cases, a multidisciplinary approach is recommended. It is essential to consider the patient's characteristics and expectations regarding treatment, as well as the local conditions, which may be complex due to the poor bone quality, bone deformity, and the presence of hardware implanted during childhood. The procedure can be very complex and challenging and each patient is a unique case. An accurate preoperative planning is mandatory to select the appropriate surgical technique, which can be either conservative or prosthetic, and to evaluate its feasibility and the risk-benefit ratio. The aim is to improve the patient's quality of life and autonomy as long as possible.

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成人成骨不全症的矫形手术。
成骨不全症是一种遗传性疾病,主要特征是骨质脆弱。对于患有成骨不全症的成年人,如果发生骨折,手术治疗可作为紧急手术;如果患者因多种原因(如持续疼痛、复杂的骨骼畸形和退行性关节病)导致功能障碍,手术治疗可作为计划手术。在所有情况下,都建议采用多学科方法。必须考虑患者的特点和对治疗的期望,以及当地的条件,由于骨质差、骨畸形和存在童年时植入的硬件,当地条件可能很复杂。该手术可能非常复杂和具有挑战性,每个患者都是一个独特的病例。准确的术前规划对于选择合适的手术技术(可以是保守的或修复的)以及评估其可行性和风险收益比至关重要。目的是尽可能提高患者的生活质量和自主能力。
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来源期刊
Calcified Tissue International
Calcified Tissue International 医学-内分泌学与代谢
CiteScore
8.00
自引率
2.40%
发文量
112
审稿时长
4-8 weeks
期刊介绍: Calcified Tissue International and Musculoskeletal Research publishes original research and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms and clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions.
期刊最新文献
Osteogenesis Imperfecta from Bench to Bedside and from Cradle to Grave. Orthopedic Surgery in Osteogenesis Imperfecta in Adults. Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta. The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases. Validation of Ten Osteoporosis Screening Tools in Rural Communities of Taiwan.
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