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相关概念视频

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Functional Classification of Joints01:09

Functional Classification of Joints

Functional Classification of Joints
The functional classification of joints is determined by the amount of mobility between the adjacent bones. Joints are functionally classified as a synarthrosis or immobile joint, an amphiarthrosis or slightly moveable joint, or as a diarthrosis, a freely moveable joint. Fibrous and cartilaginous joints can be functionally classified as either synarthroses  or amphiarthroses, whereas all synovial joints are classified as diarthroses.
Synarthrosis
An immobile...
Development of the Limb Synovial Joints01:07

Development of the Limb Synovial Joints

Joints form during embryonic development in conjunction with the formation and growth of the associated bones. The embryonic tissue that gives rise to all bones, cartilage, and connective tissues of the body is called mesenchyme.
The mesenchymal stem cells differentiate into chondrocytes that form the hyaline cartilage, and later the cartilaginous model of the bone. This model further transforms into a bone. This process is known as endochondral ossification.
During development, the limbs...
Standards of Care II01:19

Standards of Care II

Nurses bear specific legal responsibilities under several federal statutes, including:

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关于先天性多发性关节炎的共同数据元素:一个国际框架.

Shahrzad Nematollahi1,2, Klaus Dieterich3, Isabel Filges4

  • 1School of Physical and Occupational Therapy, McGill University, Montreal, Canada.

Developmental medicine and child neurology
|March 16, 2024
PubMed
概括

为了帮助国际研究,确定了对先天性多发性关节炎 (AMC) 的标准化共同数据元素 (CDE). 这些CDE将改善数据收集和跨多站点研究的协作.

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科学领域:

  • 医学研究 医学研究
  • 遗传学 是一个遗传学.
  • 临床信息学 临床信息学

背景情况:

  • 由于缺乏标准化的数据收集,关节结症多重先天性 (AMC) 研究受到阻碍.
  • 多站点和国际研究需要共同的数据元素 (CDE) 来进行有效的数据聚合和分析.

研究的目的:

  • 建立基于共识的,标准化的常见数据元素 (CDE) 对于多发性先天性关节炎 (AMC).
  • 促进AMC多站点研究和国际临床研究.

主要方法:

  • 一种混合方法的方法,涉及焦点小组讨论和三轮修改后的Delphi调查.
  • 在来自11个国家的45名临床专家和有实践经验的个人之间达成共识.
  • 利用双层评级表来达成对CDE的共识.

主要成果:

  • 为AMC开发了321个数据元素和19个标准化措施,涵盖胎儿发育到成年.
  • 使用人类现象型本体学映射了AMC的表型特征.
  • 确定了通用治理,操作协议和可持续性计划作为促进者;有限的数据共享能力和信息基础设施作为障碍.

结论:

  • 使用CDE进行系统的数据收集将使对AMC病因学,流行病学和基因型-表型相关性进行标准化调查.
  • 拟议的CDE将促进国际合作,加强大规模研究,并促进知识翻译.
  • 实施需要解决诸如电子基础设施和数据库术语差异等障碍.