Tech UPTechnologyThey apply artificial intelligence to detect rare diseases

They apply artificial intelligence to detect rare diseases

Artificial Intelligence (AI) refers to the branch of computing dedicated to building systems to perform tasks that generally require human intelligence. Applications are still at an early stage in medicine, but the potential is huge in several fields.

And this has been demonstrated by a pioneering project carried out jointly by Sopra Steria , the San Juan de Dios Hospital in León and the San Juan de Dios Foundation (FSJD) , who have opted for the use of AI to improve the prediction of rare diseases, and of those diseases with difficult diagnosis .

In line with this very interesting initiative, the first phase of a research project that merges technology with medical science has concluded, which pursues the objective of detecting cardiac amyloidosis , also known medically under the name of stiff heart syndrome . A total of 50 cases of heart failure were identified, from a sample of 16,500 patients.

To carry out the research, the San Juan de Dios Foundation coordinated the export of anonymized electronic medical records collected over 10 years, corresponding to around 16,000 patients.

The experts then applied a series of improvements to the analytical models and data processing, and a study was subsequently carried out on a sample of people with heart failure. Heart failure is considered a relevant diagnosis for this syndrome.

In turn, for its analysis and study, a proprietary platform was used with which to automate not only the diagnosis, but all the processes. Thus, the 50 cases detected will be evaluated by doctors from the Geriatrics Service of the San Juan de Dios de León Hospital, with the aim of verifying the presence or absence of said disease in the current diagnosis.

Not surprisingly, the results produced by the algorithm must always be confirmed by medical specialists , so that AI-based tools act as support systems for decision-making, it is the experts who must validate the final opinion (in quality of experts).

As we can see, one of the main challenges that scientists faced in this first stage of the project has been the low incidence of the disease; which, in addition, presents a series of difficulties when making the diagnosis, mainly due to the fact that many of its symptoms can be confused with other diseases and conditions related to age.

Moreover, it is estimated that between 15 to 20 percent of those affected do not really know that they have amyloidosis, while this disease would account for 3 percent of total hospital admissions, and 2.5 percent of health spending .

Thanks to the success achieved, Sopra Steria, the San Juan de Dios de León Hospital and the Foundation itself have decided to sign an agreement to continue working on the development of a useful solution to finally be able to apply it to the predictive detection of other difficult-to-diagnose medical conditions .

What is amyloidosis?

Cardiac amyloidosis is a rare , complex and difficult to diagnose disease, which can manifest itself through different symptoms. As with Alzheimer’s disease, the molecular structure of a protein changes suddenly, making it insoluble in the body. Due to this, the amyloid protein accumulates in the organs (mainly in the heart), interfering with their normal functioning.

Since the symptoms are diverse, it is common for this rare disease to be confused with other pathologies , which can end up making a proper medical diagnosis difficult, mainly due to the fact that most patients are usually over 50 years old, which makes the symptoms are confused with other age-related conditions.

Among some of the most common symptoms we can mention difficulty breathing normally and difficulty walking, which is why the person is generally referred to a cardiology service. However, as many experts agree, at that time the quality of life has already been seriously affected, since some of the patients can no longer go to work or leave home.

Also, since amyloidosis can be fatal , it is imperative that the diagnosis be made as quickly as possible. For this reason, projects such as the one carried out by Sopra Steria, the San Juan de Dios Foundation and the San Juan de Dios Hospital in León, are tremendously useful, using Artificial Intelligence as a means to facilitate diagnosis.

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