FRIDAY, May 3, 2024 -- Artificial intelligence might be able to identify patients who have rare diseases years earlier than they would typically be diagnosed, a new study says.A newly developed AI program was able to successfully identify people at risk of developing a rare immune disorder, researchers report in Science Translational Medicine.Out of a group of 100 people judged at highest risk by the AI program, 74 very likely have the disorder, researchers found.This shows that AI could potentially improve the outcomes of these folks by getting them earlier treatment, they said.“Patients who have rare diseases may face prolonged delays in diagnosis and treatment, resulting in unnecessary testing, progressive illness, psychological stresses, and financial burdens,” senior researcher Dr.

2024年5月3日，星期五——一项新的研究表明，人工智能可能能够比通常诊断出的罕见疾病早几年识别出患者。研究人员在《科学转化医学》（Science Translational Medicine）上报道，一个新开发的人工智能程序能够成功识别出有患罕见免疫疾病风险的人。研究人员发现，在人工智能项目判断出风险最高的100人中，有74人很可能患有这种疾病。他们说，这表明人工智能可以通过早期治疗来改善这些人的预后。高级研究员Dr。

Manish Butte said in a news release.“Using (AI) tools, we developed an approach to speed the diagnosis of undiagnosed patients by identifying patterns in their electronic health records that resemble those of patients who are known to have the disorders,” said Butte, a professor in pediatrics, human genetics and microbiology/immunology at the University of California, Los Angeles.Researchers focused on a collection of disorders called common variable immunodeficiency, or CVID.

曼尼什·巴特在新闻稿中说。加州大学洛杉矶分校儿科、人类遗传学和微生物学/免疫学教授巴特（Butte）说：“使用（AI）工具，我们开发了一种方法，通过识别电子健康记录中与已知患有这种疾病的患者相似的模式，来加快未确诊患者的诊断速度。”。研究人员专注于一系列称为常见可变免疫缺陷（CVID）的疾病。

These disorders often elude diagnosis for years or decades.CVID disorders are estimated to affect about 1 in 25,000 people, and typically cause antibody deficiencies and impaired immune responses, researchers said.“For every year a diagnosis is delayed, there is an increase in infections, antibiotic use, emergency room visits, hospitalizations, and missed days of work and school,” lead researcher Ruth Johnson, a fellow in biomedical informatics at Harvard Medical School, said in a news release.Not only are CVID d.

这些疾病通常多年或几十年都无法诊断。研究人员说，据估计，每25000人中就有1人患有CVID疾病，通常会导致抗体缺乏和免疫反应受损。哈佛医学院生物医学信息学研究员、首席研究员露丝·约翰逊（RuthJohnson）在一份新闻稿中表示：“每年，诊断被延误，感染、抗生素使用、急诊室就诊、住院以及缺勤和缺课的人数都在增加。”。不仅是CVID d。