Luca Celli, Mark R Garrelfs, Ralph J B Sakkers, Mariet W Elting, Mauro Celli, Arend Bökenkamp, Cas Smits, Thadé Goderie, Jan Maerten Smit, Lothar A Schwarte, Patrick R Schober, Wouter D Lubbers, Marieke C Visser, Arthur J Kievit, Barend J van Royen, Marjolijn Gilijamse, Willem H Schreuder, Thomas Rustemeyer, Angela Pramana, Jan-Jaap Hendrickx, Max R Dahele, Peerooz Saeed, Annette C Moll, Katie R Curro-Tafili, Ebba A E Ghyczy, Chris Dickhoff, Robert A de Leeuw, Jaap H Bonjer, Jakko A Nieuwenhuijzen, Thelma C Konings, Anton F Engelsman, Augustinus M Eeckhout, Joost G van den Aardweg, Patrick J Thoral, David P Noske, Leander Dubois, Berend P Teunissen, Oliver Semler, Lena Lande Wekre, Katre Maasalu, Aare Märtson, Luca Sangiorgi, Paolo Versacci, Mara Riminucci, Paola Grammatico, Anna Zambrano, Lorena Martini, Marco Castori, Esmee Botman, Ingunn Westerheim, Lidiia Zhytnik, Dimitra Micha, Elisabeth Marelise W Eekhoff
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OI is primarily associated with collagen type I defects, responsible for the syndromic nature of the disease affecting a broad range of tissues. As such, its multisystemic complexity necessitates multidisciplinary care approaches in all patient life stages. OI treatment remains largely supportive, commonly including bisphosphonates and orthopedic surgeries, which show promise in children. Although rehabilitation programs for children exist, guidelines for adult care and especially the transition from pediatric to adult care, are lagging behind in OI care and research. The current systematic review summarizes the literature on OI patient pediatric to adult care transition experiences and compares OI transition approaches to other chronic diseases. The review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Systematic searches were conducted across multiple databases. 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引用次数: 0
摘要
成骨不全症(OI)被称为 "脆骨病",是一种罕见的遗传性疾病,其特点是骨质脆弱,通常伴有骨骼畸形和骨骼外并发症。脆骨病主要与 I 型胶原蛋白缺陷有关,这也是该病影响多种组织的综合征的原因。因此,该病具有多系统的复杂性,需要在患者的各个生命阶段采取多学科护理方法。骨质疏松症的治疗仍以支持性治疗为主,通常包括双膦酸盐和矫形手术,这在儿童中显示出前景。虽然已有针对儿童的康复计划,但成人护理指南,尤其是从儿科护理到成人护理的过渡,在开放性脊柱炎护理和研究方面仍然滞后。本系统性综述总结了有关开放性脊柱炎患者从儿科到成人护理过渡经验的文献,并将开放性脊柱炎过渡方法与其他慢性疾病进行了比较。该综述是根据《系统综述和元分析首选报告项目》(PRISMA)指南进行的。在多个数据库中进行了系统检索。检索词包括与 "OI "和 "向成人护理过渡 "相关的同义词和密切相关的短语。初步筛选包括评估文章标题,然后对摘要进行全面审查,以评估与本次综述目的的相关性。旨在缓解从儿科向成人开放性感染护理过渡的计划需要采取多方面的方法。不同医学学科(包括儿科医生、内分泌科医生、整形外科医生、心脏科医生、肺科医生、眼科医生、耳鼻喉科医生、颌面部专科医生、心理医生和医学遗传学医生)之间的合作对于满足OI患者在这一关键生命阶段的不同需求至关重要。全面的教育、准备情况评估、个性化的过渡计划和进一步的跟踪是结构化过渡框架的重要组成部分。有必要开展进一步的研究,以评估为开放性损伤患者量身定制的循序渐进过渡系统的可行性和有效性。
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
Osteogenesis Imperfecta (OI), known as "brittle bone disease," presents a rare genetic disorder characterized by bone fragility, often accompanied by skeletal deformities and extraskeletal complications. OI is primarily associated with collagen type I defects, responsible for the syndromic nature of the disease affecting a broad range of tissues. As such, its multisystemic complexity necessitates multidisciplinary care approaches in all patient life stages. OI treatment remains largely supportive, commonly including bisphosphonates and orthopedic surgeries, which show promise in children. Although rehabilitation programs for children exist, guidelines for adult care and especially the transition from pediatric to adult care, are lagging behind in OI care and research. The current systematic review summarizes the literature on OI patient pediatric to adult care transition experiences and compares OI transition approaches to other chronic diseases. The review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Systematic searches were conducted across multiple databases. Search terms encompassed synonyms and closely related phrases relevant to "OI" and "Transition to adult care". The initial screening involved the evaluation of article titles, followed by a thorough review of abstracts to assess relevance for the purpose of the current review. Programs aimed at easing the transition from pediatric to adult OI care necessitate a multifaceted approach. Collaborative efforts between different medical disciplines including pediatricians, endocrinologists, orthopedics, cardiology, pulmonology, ophthalmology, otolaryngologists, maxillofacial specialists, psychologists and medical genetics, are crucial for addressing the diverse needs of OI patients during this critical life phase. Comprehensive education, readiness assessments, personalized transition plans, and further follow-up are essential components of a structured transition framework. Further research is warranted to evaluate the feasibility and efficacy of sequential stepwise transition systems tailored to individuals with OI.
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.