在全国样本中诊断轻链 Amyloidosis 的患者之旅:跨部分基于网络的研究
Xuelin Dou1, Yang Liu1, Aijun Liao2
1Hematology Department, Peking University People's Hospital, Beijing, China.
JMIR formative research
|November 2, 2023
概括
患有AL氨基粉症的中国患者由于各种症状而面临诊断延迟. 早期转诊到专门中心对于及时诊断和改善这种罕见疾病的管理至关重要.
科学领域:
- 血液学 血液学 血液学
- 罕见疾病 罕见疾病
- 医疗信息学 医疗信息学
背景情况:
- 系统性轻链 (AL) 氨基粉症是一种罕见的多系统性疾病,患病率高,预后不佳.
- 由于异质症状,延迟诊断是常见的.
- 缺乏关于中国AL粉样化症患者诊断旅程的真实数据.
研究的目的:
- 为了阐明AL粉样化症患者在中国的诊断旅程.
- 从患者和临床医生的角度了解诊断过程.
- 确定有助于正确及及时诊断AL粉样性粉症的因素.
主要方法:
- 分析了2204个与疾病相关的社交媒体帖子 (2008年1月至2021年4月).
- 利用机器学习进行数据收集和自然语言处理,用于变量识别.
- 手动评估和分析提取的帖子,以获得诊断见解.
主要成果:
- 报告的脏 (1459),心脏 (833),肝脏 (491) 症状最多.
- 不特定的症状,如虚弱 (252) 和 (196) 是常见的.
- 患者经常看脏病学家 (265) 和血液学家 (214),通常涉及医院间转诊.
结论:
- 中国AL氨基粉症患者经历了诊断转诊.
- 提高疾病意识和早期转诊专家中心可以减轻诊断延迟.
- 通过优化诊断途径可以实现改善患者管理.
相关概念视频
Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
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