Researchers at the National Human Genome Research Institute (NHGRI) under the National Institutes of Health have discovered possible clues to recurrent non-communicable fevers and sores that only affect children. The syndrome involves several genes, called PFAPA syndrome (periodical fever ,Family Video, aphtha, stomatitis, pharyngitis, adenitis), which may lead to new treatments. The results are published in this week’s PNAS magazine.
These discoveries are made possible by realizing commonality with other chronic inflammatory diseases, which also involve sores on the body, including common canker sores. The research shows how to solve long-standing health problems when researchers use more and more genomic data to discover new biological connections.
In 1987, researchers described for the first time a syndrome found in 12 children, which was characterized by repeated fever, painful canker sores, sore throat and lymphadenitis. The disease begins at an earlier age between 1 and 5 years. The first symptom is fever, accompanied by redness and other symptoms of sore throat. FM TV,
NHGRI clinical researcher and lead author of the study, Kalpana Manthiram, MD, said: “PFAPA syndrome is the most cyclical fever of cyclical fever. Many children have an episode of fever once a month, lasting three to three years. Five days.” “This puts a heavy burden on the family because these children cannot go to school and may be bedridden during the outbreak.”
Although PFAPA syndrome has become the most common recurrent fever syndrome among children in Western countries, the diagnosis and treatment methods are still largely primitive and insufficient. Attacks usually stop spontaneously before puberty.
Due to the nature of the disease, researchers have long believed that the answer may lie in genomics. After excluding the possibility that the syndrome was caused by a single gene mutation, they considered the possibility of involving multiple genes.
During a clinical study conducted at Vanderbilt University Medical Center from 2012 to 2015, Dr. Mansiram discovered that many cases were infected by family members. Compared with relatives of people who are not sick, the patients’ parents and siblings often have tonsils and canker sores.
The senior author of the paper, NHGRI Scientific Director Dr. Daniel Kastner, said: “But the biggest problem is that there are still no diagnostic tests for PFAPA syndrome, which usually means that the disease is underdiagnosed.” It is based on the clinical history and depends on parents and doctors’ knowledge of it. We know the time it takes to do better, and we believe that this research will create conditions for a more accurate diagnosis of the syndrome.” funny usa,
In order to understand the genes (if any) associated with the disease, Dr. Manthiram and his team looked for symptomatic commonalities between PFAPA syndrome and two other inflammatory diseases (Beceite’s disease and canker sores, which cause inflammation of blood vessels).
Every disease has a common symptom-canker sores.
The team investigated whether genetic variants known to be associated with these diseases are also present in patients with PFAPA syndrome by comparing patients with European American and Turkish ancestry diseases with the general population in the United States. They conducted a more detailed analysis of six genes closely related to Behcet’s disease and canker sores.
The closest link is to the gene IL12A, which encodes an inflammation-related protein used by the immune system. IL12A protein can act as an alarm for the immune system and trigger inflammation by activating various white blood cells. Funny UK The expression of other genes involved in the immune system is also increased in patients, such as STAT4, IL10 and CCR1-CCR3.