A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.
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DOI：
10.1111/cge.12409
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发表时间：
2015-03
影响因子：
3.5
通讯作者：
Sutton VR
中科院分区：
文献类型：
--
作者：
Patel RM;Nagamani SC;Cuthbertson D;Campeau PM;Krischer JP;Shapiro JR;Steiner RD;Smith PA;Bober MB;Byers PH;Pepin M;Durigova M;Glorieux FH;Rauch F;Lee BH;Hart T;Sutton VR
成骨不全（OI）是最常见的骨骼发育不良，易导致复发性骨折和骨畸形。尽管在理解OI的遗传基础方面取得了重大进展，但还没有大规模的自然史研究。为了更好地了解自然史并改善患者的护理，建立了一个联系临床研究中心（LCRC）网络。OI受试者入组了一项纵向研究，在本报告中，我们提供了最大OI受试者队列（n=544）的横断面数据。与I型和IV型OI受试者相比，III型OI受试者有更高的牙本质发育迟缓、严重脊柱侧凸和长骨畸形的患病率。尽管所有OI亚型的平均LS aBMD均较低，但更严重形式的患者骨量较低。分子检测可能有助于预测I型胶原相关性OI的亚型。对开放教育中收集良好且无偏见的数据进行分析不仅可以帮助回答与患者护理相关的问题，还可以促进假设驱动的研究，特别是在下一代测序驱动的“表型扩展”背景下。
Osteogenesis Imperfecta (OI) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities. In spite of significant advances in understanding the genetic basis of OI, there have been no large-scale natural history studies. To better understand the natural history and improve the care of patients, a network of Linked Clinical Research Centers (LCRC) was established. Subjects with OI were enrolled in a longitudinal study, and in this report, we present cross-sectional data on the largest cohort of OI subjects (n=544). OI type III subjects had higher prevalence of dentinogenesis imperfecta, severe scoliosis, and long bone deformities as compared to those with OI types I and IV. Whereas the mean LS aBMD was low across all OI subtypes, those with more severe forms had lower bone mass. Molecular testing may help predict the subtype in type I collagen-related OI. Analysis of such well-collected and unbiased data in OI can not only help answer questions that are relevant to patient care but also foster hypothesis-driven research, especially in the context of “phenotypic expansion” driven by next-generation sequencing.
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影响因子：
64.5
作者：
Morello, Roy;Bertin, Terry K.;Lee, Brendan
通讯作者：
Lee, Brendan
影响因子：
4.5
作者：
Choi JW;Sutor SL;Lindquist L;Evans GL;Madden BJ;Bergen HR 3rd;Hefferan TE;Yaszemski MJ;Bram RJ
通讯作者：
Bram RJ
影响因子：
30.8
作者：
Cabral, Wayne A.;Chang, Weizhong;Marini, Joan C.
通讯作者：
Marini, Joan C.
影响因子：
6.2
作者：
Chevrel, G;Schott, AM;Meunier, PJ
通讯作者：
Meunier, PJ
DOI：
10.1056/nejmoa0907705
发表时间：
2010-02-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Barnes AM;Carter EM;Cabral WA;Weis M;Chang W;Makareeva E;Leikin S;Rotimi CN;Eyre DR;Raggio CL;Marini JC
通讯作者：
Marini JC