相关实验视频
Updated: Jul 16, 2025

Direct Mouse Trauma/Burn Model of Heterotopic Ossification
Published on: August 6, 2015
纤维发育不良的面孔 Ossificans Progressiva:从临床伪装师的教训
Ambika Gupta1, Puneeta Mishra1, Madhumita Roy Chowdhury1
1Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mother Child Block, Ansari Nagar, New Delhi, 110029, India.
通过临床怀疑和分子检测,早期诊断Fibrodysplasia Ossificans Progressiva (FOP) 是至关重要的. 这种方法可以防止诊断延迟,避免有害的干预,改善患者的治疗结果.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 罕见疾病 罕见疾病
- 医学诊断 医学诊断 医学诊断
背景情况:
- 纤维发育性骨渐进性 (FOP) 是一种罕见的遗传性疾病,其特征是逐渐异胎骨化.
- 在FOP诊断延迟可能导致错误诊断和不必要的,有害的干预.
研究的目的:
- 为了评估FOP的自然历史.
- 确定导致FOP患者诊断延迟和阳性干预的因素.
主要方法:
- 对2012-2021年患者登记数据的回顾性审查.
- 包括疑似FOP的患者,分析临床记录,成像和分子测试.
- 随访数据收集,如果有.
主要成果:
- 分析了12名已确认FOP的患者.
- 发病的中位数年龄为1.5岁,诊断延迟的中位数为3.5岁.
- 七名患者因错误诊断而接受了侵入性手术,他们的病情恶化.
结论:
- 临床怀疑与分子检测相结合,提供了简单而准确的FOP诊断.
- 早期和准确的诊断是具有成本效益的,节省时间,并防止有毒性损害.
- 及时诊断对于管理FOP和改善患者预后至关重要.
更多相关视频
07:35Creating Rigidly Stabilized Fractures for Assessing Intramembranous Ossification, Distraction Osteogenesis, or Healing of Critical Sized Defects
Published on: April 11, 2012
07:23Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
Published on: December 3, 2016
相关概念视频
Bone Formation by Endochondral Ossification
Bone Formation by Intramembranous Ossification
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Fractures: Bone Repair
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
Growth of Cartilage and Bone Tissue
Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...