ARKHANGELSK, November 12. /TASS/. A registry of patients with genetic features in the blood system was created in the Arkhangelsk Region, Professor Nadezhda Vorobyova of the Center for Antithrombotic Therapy at the First City Hospital told TASS.
The list contains data on more than 5,000 patients, and scientists use various methods, including artificial intelligence, the scientist said.
"We are engaged in genetic research to identify changes in genes, mutations, and gene variants responsible for an increased tendency to thrombosis in vessels of many organs: kidneys, liver, uterus, and ovaries. This determines the importance of this type of research as an interdisciplinary problem. The regional center's database contains records of more than 5,000 people, and we have identified patients with fairly rare mutations both for Russia and for global medical practice," she added.
The hospital began studying blood system anomalies in the 2000s, where the expert examined patients in the intensive care unit with severe bleeding suffering acute DIC syndrome (disseminated intravascular coagulation). This is a pathological process in the blood coagulation system, where numerous blood clots form in the vessels, and then massive bleeding occurs. DIC syndrome usually develops as a complication of serious illnesses such as trauma, sepsis, and others.
"Molecular genetic studies have revealed hereditary features in the fibrinolysis system and the discrete plasmapheresis technique in a number of patients, and we even have reduced mortality in intensive care patients with acute DIC syndrome," the professor noted.
Practical value for patients
In 2011, the region's first molecular genetic laboratory was opened at the Northern State Medical University, and a similar laboratory has been operating at the First City Hospital since 2015. Testing identifies mutations, assesses predisposition to thrombosis, clarifies risks, especially during pregnancy, to avoid complications, such as heart attacks or strokes. The method is used to mind individual characteristics of a person when treating with statin drugs, anticoagulants, antidepressants, antibiotics and other medications.
"If a person has mutations responsible for the so-called high-risk thrombophilia, then any surgical interventions, any prescription of medications should be optimized due to the patient's characteristics. This is the so-called personalized or patient-oriented medicine. In case of additional risk factors for thrombosis - injury, surgery, certain medications - we must "insure" such a patient with anticoagulants that prevent excessive thrombosis. At the same time, a person can live a regular life, though taking these drugs," she explained.
Another problem the regional center addresses is rare disorders of the blood coagulation system. Severe deficiencies of various factors may cause spontaneous bleeding.
For example, the INR laboratory indicator (international normalized ratio) shows how quickly blood clots: its high value indicates the risk of bleeding, and patients with such indicators are not accepted for elective surgery. A high INR value may occur with hypoproconvertinemia, a deficiency of blood coagulation factor VII. "This year, two such patients from the region have undergone surgery in our hospital. They had been denied planned surgical intervention for several years, and then they come to our center, we examine them, identify this rare pathology, prepare them for surgery and operate on them," the scientist said.
External factors may cause hemostasis system abnormalities. "We had a patient who had worked with rat poison for a long time, where his INR index increased, and bruises appeared. We have identified the cause - it turned out to be rat poison, and eventually everything returned to normal for that patient," she added.
Using artificial intelligence
Artificial intelligence helps analyze data from the database. But, the professor emphasized, AI will never replace a doctor. "Using artificial intelligence requires the user has own natural one," she continued. AI helps in reviewing medical literature, it may automate routine tasks to cut time for administrative work and avoid errors.
Neural networks help in evaluating genomic data to use personalized therapy. Thus, the center's doctors jointly with the university's Department of Clinical Pharmacology and Pharmacotherapy have created online calculators to assess risks of various vascular pathology conditions.
For example, there is a calculator for homocysteine - an amino acid formed in the body from methionine, and usually it is quickly processed with the help of B vitamins. With high levels of homocysteine, the walls of blood vessels are damaged, increasing the risk of heart attacks and strokes. "We have analyzed a big database of healthy people and a big database of sick people, have compared them to assess the risk for thrombosis. We have developed a program for doctors. Now we put any person's data, and the calculator shows risks of developing thrombosis," the scientist said.