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电脑软件程序辨别诊断罕见疾病

Computer spots rare diseases in family photos
电脑软件程序辨别诊断罕见疾病
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2019-09-15 20:55
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电脑软件程序辨别诊断罕见疾病

Doctors faced with the tricky task of spotting rare genetic diseases in children may soon be asking parents to email their family photos. A computer program can now learn to identify rare conditions by analysing a face from an ordinary digital photograph. It should even be able to identify unknown genetic disorders if groups of photos in its database share specific facial features.

医生们常常为诊断小孩各种千奇百怪的遗传基因疾病感到棘手。不过,这种状况不久就可改变,医生们通过小孩父母电子邮件中发来的照片图像,就可确认小孩是否患病。现在有一种电脑软件程序可从数码照片中人的脸部确认小孩基因是否出现异常。电脑程序数据库储存有患者大量各种脸部照片,给鉴别潜伏的基因变异带来了强有力支持。

Rare genetic disorders are thought to affect 6 per cent of people. Genetic tests exist for the more common conditions such as Down’s syndrome, but many people with the rarer disorders never get a proper clinical diagnosis. Genetic tests aren’t available for many conditions because the gene variants that cause them haven’t been identified. This means doctors often have to rely on the pronounced facial features that occur in between 30 and 40 per cent of rare disorders to make a diagnosis, but few people are trained to recognise them.

世界上大约有6%的人患有罕见的基因疾病基因测试很有必要,如唐氏综合征, 可是很多人从未得到合适的临床诊断。没经过基因测试,就无法鉴别基因变异类型。许多医生常常不得不根据病人脸部状况进行判断。一般来说,有30%-40%的罕见病患者脸部图像会出现异常,但掌握这种技能只有少数医生。

“Clinicians skilled in the use of facial features to support diagnosis are few and far between,” says Alastair Kent, director of the charity Genetic Alliance UK. “As a result, families frequently experience long delays – years rather than months – before they receive a diagnosis for their child.”

“有能力根据病人脸部特征进行诊断治疗的临床医生为数不多。”英国慈善组织英国遗传疾病联盟(Genetic Alliance UK)主席阿拉斯泰尔·肯特(Alastair Kent)说,“许多家庭的小孩因未能得到及时诊断而耽搁治疗宝贵时间-不只是数月而是几年。”

The software developed by Christoffer Nellåker and Andrew Zisserman of the University of Oxford and their colleagues should help family doctors or general paediatricians make a preliminary diagnosis. “The idea is to offer it to health systems right across the world because all you need is a computer and a digital photo,” says Nellåker.

英国牛津大学的克里斯托弗·内拉克尔(Christoffer Nellåker)和安德鲁·齐默曼(Andrew Zisserman)及其同事开发的电脑诊断软件程序,可帮助家庭医生和儿科医生对这种疾病做出早期初步判断。内拉克尔说:“因为诊断全过程只需一台电脑和一张数码照片,这无疑是对世界的健康保障体系提供了一种新方法。”

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