FindZebra在线搜索深入研究罕见疾病病例报告,使用自然语言处理
Valentin Liévin1,2, Jonas Meinertz Hansen2, Allan Lund3
1DTU Compute, Technical University of Denmark, Lyngby, Denmark.
PLOS digital health
|June 29, 2023
概括
改善罕见疾病诊断是必不可少的. 使用病例报告和临床特征的搜索引擎增强了诊断支持,尽管数据的相关性因疾病和出版日期而异.
科学领域:
- 医疗信息学 医疗信息学
- 罕见疾病 罕见疾病
- 临床决策支持 临床决策支持
背景情况:
- 早期诊断显著影响罕见疾病患者的结果和生活质量.
- 智能用户界面可以帮助医生诊断复杂的罕见疾病.
- 罕见疾病中的异质现象型往往使准确的诊断变得复杂.
研究的目的:
- 通过将PubMed.com的病例报告摘要纳入,增强罕见疾病搜索引擎FindZebra.com.
- 通过索引年龄,性别和临床特征来提高诊断特异性.
- 评估针对特定罕见疾病的增强搜索引擎的临床相关性.
主要方法:
- 扩展了FindZebra.com,包括PubMed病例报告摘要.
- 建立了Apache Solr搜索索引,提取了临床特征,年龄和性别.
- 通过使用真实世界Gaucher和Fabry病患者的结果数据进行了追溯验证.
主要成果:
- 搜索结果被认为对法布里病患者具有临床意义.
- 结果对Gaucher病患者的相关性较小,特别是来自较旧的病例报告.
- 为了解决相关性问题,实施了出版日期过器.
结论:
- 增强的搜索引擎对罕见疾病诊断,特别是对于法布里病,显示出有前途的前景.
- 在文献中对高氏病等疾病的报道和理解的差异影响了搜索的相关性.
- 添加出版日期过器可以提高该工具的实用性.
相关概念视频
Classification of Illness
7.6K
The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
7.6K
Single Nucleotide Polymorphisms-SNPs
15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K
Autoimmune Disorders
517
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
517
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Chronic Obstructive Pulmonary Disease
1.3K
COPD is defined as a heterogeneous lung condition marked by persistent respiratory symptoms such as dyspnea, cough, and sputum production, caused by abnormalities in the airways that cause airflow obstruction.
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...
1.3K
Prescription, Nonprescription and Orphan Drugs
780
Prescription drugs require a prescription from a medical practitioner and can only be obtained from a pharmacy. They have many applications, including treating pain, anxiety, and hypertension.
The misuse and addiction to prescription drugs is a growing problem that can affect people of all age groups, specifically teenagers. This can happen when prescription medications are used in ways not intended by the prescriber, such as taking someone else's prescription or using medication for...
The misuse and addiction to prescription drugs is a growing problem that can affect people of all age groups, specifically teenagers. This can happen when prescription medications are used in ways not intended by the prescriber, such as taking someone else's prescription or using medication for...
780


